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  • 151.
    Sobti, Ranbir Chander
    et al.
    Department of Biotechnology, Panjab University, India.
    Kler, Rupinder
    Department of Biotechnology, Panjab University, India.
    Sharma, Yash Paul
    Department of Cardiology, PGIMER, Chandigarh 160012, India.
    Talwar, Kewal Krishan
    Department of Cardiology, PGIMER, Chandigarh 160012, India.
    Singh, Neha
    Department of Biotechnology, Panjab University, India.
    Risk of obesity and type 2 diabetes with tumor necrosis factor-α 308G/A gene polymorphism in metabolic syndrome and coronary artery disease subjects2012In: Molecular and Cellular Biochemistry, ISSN 0300-8177, E-ISSN 1573-4919, Vol. 360, no 1-2, p. 1-7Article in journal (Refereed)
    Abstract [en]

    Tumor Necrosis Factor-alpha (TNF-α) has been implicated in the pathogenesis of insulin resistance and obesity. The increased expression of TNF-α in adipose tissue is known to induce insulin resistance, and a polymorphism at position -308 in the promoter region of TNF-α gene may lead to its increased transcription in adipocytes. The objective of this work was to determine the role of TNFα-308G/A gene polymorphism in metabolic syndrome (MetS) and coronary artery disease (CAD) with obesity and type 2 diabetes mellitus (T2DM). A total of 250 MetS and 224 CAD patients and 214 controls were studied. TNFα-308G/A polymorphism was detected from the whole blood genomic DNA using PCR-amplification refractory mutation system. The 2 × 2 contingency tables and multiple regression analysis were used for determining the association of genotypes with obesity and type 2 diabetes mellitus (T2DM) in MetS and CAD subjects. In CAD subjects with T2DM, the AG genotypes showed a very strong association (P < 0.0001; OR 0.194, 95%CI 0.103-0.365). In CAD subjects with obesity, the AA (P = 0.049; OR 2.449) and AG genotypes showed a strong association (P < 0.0001; OR 0.206). In both males and females, AG genotype and G allele (P < 0.0001) showed a strong association with T2DM. In MetS subjects with T2DM, there was a strong association with AG (P = 0.002; OR 4.483) as well as AA+AG genotypes (P = 0.002; OR 4.255). The AA and AG genotype (P = 0.001; OR 5.497) in males showed a strong 4.6- and 5.4-fold risks, respectively, with obesity. In females, only AG genotype showed a strong 4.5-fold risk with obesity (P = 0.001). In MetS subjects with obesity, the AA genotype (P = 0.043; OR 3.352) as well as AG showed a very strong association (P = 0.001; OR 5.011). The AG genotypes showed a high 3.5-fold risk with T2DM in females (P = 0.011). In CAD subjects, AG genotype showed a protective effect in both obese males and females (P < 0.0001). Heterozygous TNFα-308G/A gene variant may be an important risk factor for MetS with T2DM and obesity in both males and females, but may have a protective role in CAD subjects with obesity and T2DM. A allele may be an important risk factor for MetS and CAD with obesity as well as CAD subjects with T2DM.

  • 152.
    Stener-Victorin, Elisabet
    et al.
    Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Maliqueo, Manuel
    Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden / Endocrinology and Metabolism Laboratory, West Division, School of Medicine, University of Chile, Santiago, Chile.
    Soligo, M.
    Institute of Translational Pharmacology – CNR, Rome, Italy.
    Protto, V.
    Institute of Translational Pharmacology – CNR, Rome, Italy.
    Manni, L.
    Institute of Translational Pharmacology – CNR, Rome, Italy.
    Jerlhag, E.
    Institute of Neuroscience and Physiology, Department of Pharmacology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Kokosar, M.
    Institute of Neuroscience and Physiology, Department of Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Sazonova, A.
    Department of Obstetrics and Gynecology, Sahlgrenska Academy, University of Gothenburg, Sweden.
    Behre, C. J.
    Institute of Neuroscience and Physiology, Department of Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Lind, M.
    Department of Molecular and Clinical Medicine, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden.
    Ohlsson, C.
    Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Højlund, K.
    Department of Endocrinology, Odense University Hospital, Odense, Denmark.
    Benrick, Anna
    University of Skövde, School of Health and Education. Institute of Neuroscience and Physiology, Department of Physiology, Sahlgrenska Academy University, of Gothenburg, Gothenburg, Sweden.
    Changes in HbA 1c and circulating and adipose tissue androgen levels in overweight‐obese women with polycystic ovary syndrome in response to electroacupuncture2016In: Obesity Science and Practice, ISSN 2055-2238, Vol. 2, no 4, p. 426-435Article in journal (Refereed)
    Abstract [en]

    Aim

    Insulin sensitivity is ~40% lower in women with polycystic ovary syndrome (PCOS) than in controls. We tested the hypothesis that 5weeks of electroacupuncture treatment improves glucose regulation and androgen levels in overweight/obese women with PCOS.

    Material and Methods

    Seventeen women with PCOS, aged 18 to 38years, with a body mass index (BMI) ≥25 kg/m2 and diagnosed with PCOS were included in this experimental and feasibility study and subjected to five weeks of electroacupuncture treatments three times/week. The primary outcome was changes in whole‐body glucose homeostasis measured by euglycemic hyperinsulinemic clamp before and after the intervention. Secondary outcome were changes in HbA1c, circulating catecholamines, adipocyte size and adipose tissue expression of sex steroids and nerve growth factor (NGF).

    Results

    No significant change in glucose homeostasis was observed, but HbA1c decreased by 9.5% (p=0.004), circulating testosterone decreased by 22% (p=0.0007) and dihydrotestosterone decreased by 12% (p=0.007). The two vagal activity markers of plasma serotonin levels and the dopamine metabolite homovanillic acid decreased by 21% (p=0.027) and 20% (p=0.011), respectively. Adipose tissue concentrations of testosterone decreased by 18% (p=0.049), and androstenedione decreased by 13% (p=0.035), and mature NGF/proNGF ratio, a marker of sympathetic activity, increased (p=0.04). These changes occurred without changes in anthropometrics.

    Conclusion

    Five weeks of electroacupuncture treatment improves HbA1c and circulating and adipose tissue androgens in women with PCOS. This effect is mediated, at least in part, via modulation of vagal activity and adipose tissue sympathetic activity. Based on these findings, we have recently initiated a randomized controlled study (NTC02647827).

  • 153.
    Sulieman, Ibnouf
    et al.
    Department of Surgery, Division of Organ Transplant, Hamad General Hospital, Doha, Qatar.
    Elmoghazy, Walid
    Department of Surgery, Division of Organ Transplant, Hamad General Hospital, Doha, Qatar / Department of Surgery, Sohag University, Sohag, Egypt.
    El Ansari, Walid
    University of Skövde, School of Health and Education. University of Skövde, Health and Education. Department of Surgery, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar / College of Medicine, Qatar University, Doha, Qatar.
    Elaffandi, Ahmed
    Department of Surgery, Division of Organ Transplant, Hamad General Hospital, Doha, Qatar / Department of Surgical Oncology, National Cancer Institute, Cairo University, Egypt.
    Khalaf, Hatem
    Department of Surgery, Division of Organ Transplant, Hamad General Hospital, Doha, Qatar.
    Gallbladder cancer: 7-Year experience from Qatar2019In: Annals of Medicine and Surgery, ISSN 2049-0801, Vol. 44, p. 33-38Article in journal (Refereed)
    Abstract [en]

    Background: Gallbladder cancer (GC) is a relatively rare disease. To date, there are no studies describing the epidemiology of this disease in Qatar. Objective: To study the epidemiology of Gallbladder Cancer in Qatar. Methods: A retrospective analysis of the cases of GC in Hamad General Hospital in Qatar from 2009 to 2016. Results: Thirty-five patients presented with GC during the study period, 10 females (28.6%) and 25 males (71.4%). Fourteen patients (40%) were diagnosed incidentally after laparoscopic cholecystectomy, 16 (48.6%) were diagnosed pathologically, and 4 (11.4%) were diagnosed radiologically. The median age at diagnosis was 54 years (31–78). 74.3% of the disease occurred in patients less than 60 years old. Metastatic disease was discovered in 25 patients (71.4%) versus no metastasis in 10 patients (28.6%). The most common sites for metastasis were the liver (42.9%), peritoneum (25.7%), and lymph nodes (25.7%). Curative central hepatic resection was done in 8 patients (22.9%). Pathology showed adenocarcinoma in 27 patients (77.1%), neuroendocrine tumor in 3 patients (8.6%) and high-grade dysplasia in 1 patient (2.9%). No histopathology was available for 4 patients (11.4%). Twenty-eight patients (80.0%) had regular follow up, with 22 (62.9%) still alive. Six patients (17.1%) died during follow up with survival after diagnosis ranging from 42 days to 6.8 years. Conclusions: In Qatar, due to the unique demographics, GC is more common in males and younger age groups. Most of the patients present late with metastasis, but curative resection is associated with long-term survival.

  • 154.
    Sundin, Johanna
    et al.
    Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Sweden / Department of Microbiology and Immunology, Sahlgrenska Academy at University of Gothenburg, Sweden.
    Öhman, Lena
    University of Skövde, School of Health and Education. University of Skövde, Health and Education. Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Sweden / Department of Microbiology and Immunology, Sahlgrenska Academy at University of Gothenburg, Sweden.
    Simrén, Magnus
    Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Sweden / Center for Functional GI and Motility Disorders, University of North Carolina, Chapel Hill, North Carolina, USA.
    Understanding the Gut Microbiota in Inflammatory and Functional Gastrointestinal Diseases2017In: Psychosomatic Medicine, ISSN 0033-3174, E-ISSN 1534-7796, Vol. 79, no 8, p. 857-867Article, review/survey (Refereed)
    Abstract [en]

    Objective: During the last decade, experimental and observational studies have shown that patients with inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS) may have an altered intestinal microbial composition compared with healthy individuals. However, no uniform microbial signature has as yet been detected for either IBD or IBS. This review summarizes the current knowledge of microbial dysbiosis and its potential relationship to the pathophysiology in IBD and IBS. Methods: A selective review was conducted to summarize the current knowledge of gut microbiota in the pathophysiology of IBD and IBS. Results: Experimental and observational studies provide good evidence for intestinal microbial dysbiosis in subgroups of IBD and IBS. Still, no uniform disease pattern has been detected. This is most likely due to the heterogeneous nature of IBD and IBS, in combination with the effects of intrinsic and extrinsic factors. Such intrinsic factors include genetics, the gastrointestinal environment, and the host immune system, whereas extrinsic factors include early life diet, breastfeeding, and method of infant delivery. Conclusions: Recent and ongoing work to define microbial dysbiosis in IBD and IBS shows promise, but future well-designed studies with well-characterized study individuals are needed. It is likely that the microbial dysbiosis in IBD and IBS is dependent on the natural disease course of IBD and symptom pattern in IBS. Therefore, assessment of the entire microbiota along the gastrointestinal tract, in relationship to confounding factors, symptom fluctuations, and other pathophysiological factors, is needed for further understanding of the etiology of these common diseases.

  • 155.
    Sunnerhagen, Katharina S.
    et al.
    Department of Clinical Neuroscience-Rehabilitation Medicine, University of Göteborg, Sahlgrenska Hospital, Göteborg, Sweden.
    Darin, N.
    Department of Pediatrics, Sahlgrenska Academy, Göteborg University, Göteborg, Sweden.
    Tajsharghi, Homa
    Department of Pathology, Sahlgrenska Academy, Göteborg University, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska Academy, Göteborg University, Göteborg, Sweden.
    The effects of endurance training in persons with a hereditary myosin myopathy2004In: Acta Neurologica Scandinavica, ISSN 0001-6314, E-ISSN 1600-0404, Vol. 110, no 2, p. 80-86Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: To evaluate muscle performance and its consequences in eight individuals with a hereditary myopathy and the effects of an 8-week endurance training program.

    MATERIAL AND METHODS: Handgrip, muscle strength and endurance and oxygen consumption by breath-by-breath analysis during a stepless bicycle ergonometer test were evaluated. Walking, balance test and activities of daily living (ADL) were assessed, and a questionnaire for activity level and perceived symptoms was used. The design was a before-after trial in comparison with data from a control population, bicycling at 70% of maximal workload, 30 min/day, 5 days/week for 8 weeks.

    RESULTS: The subjects were weaker than age-matched controls. After training, the peak watt increased by almost 20% (P < 0.05). Muscle strength (flexion/extension) and isometric endurance (40% of maximum at 60 degrees ) did not change significantly. The average self-selected walking speed increased significantly (P < 0.05) from 1.25 to 1.45 m/s. Compliance was excellent and no serious adverse events occurred.

    CONCLUSION: Endurance training seems to function for this myopathy.

  • 156.
    Söderman, Mirkka
    et al.
    School of Health, Care and Social Welfare, Division of Caring Sciences and Health Care Education, Mälardalen University, Eskilstuna-Västerås, Sweden.
    Pietilä Rosendahl, Sirpa
    School of Health, Care and Social Welfare, Division of Caring Sciences and Health Care Education, Mälardalen University, Eskilstuna-Västerås, Sweden.
    Caring for Ethnic Older People Living with Dementia – Experiences of Nursing Staff2016In: Journal of Cross-Cultural Gerontology, ISSN 0169-3816, E-ISSN 1573-0719, Vol. 31, no 3, p. 311-326Article in journal (Refereed)
    Abstract [en]

    The total number of persons living with dementia is estimated to double every 20 years and ageing migrant populations are growing in several countries. There are gaps in the health and social care of people from other countries, regardless of the efforts made when someone has a dementia diagnosis; similarly, receiving care in sheltered accommodation is less common. The aim of this study was to explore and describe the nursing staff's experiences of caring for non-Swedish speaking persons living with dementia in a Finnish speaking group home in relation to a Swedish speaking group home in Sweden. 27 qualitative semi-structured interviews were analysed using qualitative content analyses. The first main category, "communication", concentrated on language abilities and deficiencies, non-verbal language, highlighting the consequences of not understanding and the benefits of a common language. The second main category, "culturally oriented activities", focused on being served traditional food, celebrating holidays at the group home, the importance of traditions and the importance of familiar music as cultural elements. The Swedish speaking nursing staff could provide qualitative and equitable care, but the challenge was greater for them than for the bilingual nursing staff who spoke the same language as the residents.

  • 157.
    Tajsharghi, Homa
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Thick and thin filament gene mutations in striated muscle diseases2008In: International Journal of Molecular Sciences, ISSN 1422-0067, E-ISSN 1422-0067, Vol. 9, no 7, p. 1259-1275Article, review/survey (Refereed)
    Abstract [en]

    The sarcomere is the fundamental unit of cardiac and skeletal muscle contraction. During the last ten years, there has been growing awareness of the etiology of skeletal and cardiac muscle diseases originating in the sarcomere, an important evolving field. Many sarcomeric diseases affect newborn children, i. e. are congenital myopathies. The discovery and characterization of several myopathies caused by mutations in myosin heavy chain genes, coding for the major component of skeletal muscle thick filaments, has led to the introduction of a new entity in the field of neuromuscular disorders: myosin myopathies. Recently, mutations in genes coding for skeletal muscle thin filaments, associated with various clinical features, have been identified. These mutations evoke distinct structural changes within the sarcomeric thin filament. Current knowledge regarding contractile protein dysfunction as it relates to disease pathogenesis has failed to decipher the mechanistic links between mutations identified in sarcomeric proteins and skeletal myopathies, which will no doubt require an integrated physiological approach. The discovery of additional genes associated with myopathies and the elucidation of the molecular mechanisms of pathogenesis will lead to improved and more accurate diagnosis, including prenatally, and to enhanced potential for prognosis, genetic counseling and developing possible treatments for these diseases. The goal of this review is to present recent progress in the identification of gene mutations from each of the major structural components of the sarcomere, the thick and thin filaments, related to skeletal muscle disease. The genetics and clinical manifestations of these disorders will be discussed.

  • 158.
    Tajsharghi, Homa
    et al.
    Departments of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Darin, Niklas
    Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Rekabdar, Elham
    Departments of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Kyllerman, Mårten
    Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Wahlström, Jan
    Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Martinsson, Tommy
    Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Departments of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)2005In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 13, no 5, p. 617-622Article in journal (Refereed)
    Abstract [en]

    We recently described a new autosomal dominant myopathy associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2). In this study, we performed mutation analysis of MYH2 in eight Swedish patients with familial myopathy of unknown cause. In two of the eight index cases, we identified novel heterozygous missense mutations in MYH2, one in each case: V970I and L1061V. The mutations were located in subfragment 2 of the MyHC and they changed highly conserved residues. Most family members carrying the mutations had signs and symptoms consisting mainly of mild muscle weakness and myalgia. In addition, we analyzed the extent and distribution of nucleotide variation in MYH2 in 50 blood donors, who served as controls, by the complete sequencing of all 38 exons comprising the coding region. We identified only six polymorphic sites, five of which were synonymous polymorphisms. One variant, which occurred at an allele frequency of 0.01, was identical to the L1061V that was also found in one of the families with myopathy. The results of the analysis of normal variation indicate that there is strong selective pressure against mutations in MYH2. On the basis of these results, we suggest that MyHC genes should be regarded as candidate genes in cases of hereditary myopathies of unknown etiology.

  • 159.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Darin, Niklas
    The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Göteborg, Sweden.
    Tulinius, Mar
    The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)2005In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 15, no 4, p. 299-302Article in journal (Refereed)
    Abstract [en]

    Mutations in SEPN1 have been associated with three autosomal recessive congenital myopathies, including rigid spine muscular dystrophy, multiminicore disease and desmin-related myopathy with Mallory body-like inclusions. These disorders constitute the SEPN1 related myopathies (SEPN-RM). On the basis of clinical and laboratory features compatible with SEPN-RM, we performed mutation analysis of SEPN1 in 11 unrelated patients and found one case with pathogenic mutations. He showed early onset axial muscle weakness and developed scoliosis with respiratory insufficiency. Muscle biopsy showed increased variability of fiber size and slight, focal increase of connective tissue. A few fibers showed mini-core changes. SEPN1 mutation analysis revealed that the patient was a compound heterozygote: a previously described insertion (713-714 insA), and a novel nonsense mutation (R439stop).

  • 160.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Fyhr, Ing-Marie
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Structural effects of the slow/b-cardiac myosin heavy chain R453C mutation in cardiac and skeletal muscle2008In: Scandinavian Cardiovascular Journal, ISSN 1401-7431, E-ISSN 1651-2006, Vol. 42, no 2, p. 153-156Article in journal (Refereed)
    Abstract [en]

    OBJECTIVES: Hypertrophic cardiomyopathy (HCM) represents an important cause of sudden cardiac death particularly in otherwise healthy young individuals. In some families, HCM is caused by distinct mutations of the cardiac beta myosin heavy chain gene (MYH7).

    DESIGN: We have analyzed the expression of the malignant MYH7Arg453Cys mutation, in cardiac and skeletal muscle, and related it to morphological alterations.

    RESULTS: Morphological investigation revealed hypertrophic cardiomyocytes but regularly arranged myofibrils. Skeletal muscle showed no sign of structural alterations.

    CONCLUSIONS: Our results indicate that cardiomyocyte hypertrophy is secondary, due to impaired function, and that the mutation causes no structural alteration in myofibrillar structure in cardiac or skeletal muscle.

  • 161.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Hammans, Simon
    Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.
    Lindberg, Christopher
    Department of Neurology, Institute of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska Hospital, Gothenburg, Sweden.
    Lossos, Alexander
    Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Clarke, Nigel F.
    Institute for Neuromuscular Research, Children’s Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
    Mazanti, Ingrid
    Cellular Pathology, Southampton General Hospital, Southampton, UK.
    Waddell, Leigh B.
    Institute for Neuromuscular Research, Children’s Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
    Fellig, Yakov
    Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Foulds, Nicola
    Wessex Clinical Genetics Services, UHS NHS Foundation Trust, Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
    Katifi, Haider
    Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.
    Webster, Richard
    Department of Neurology, Children’s Hospital at Westmead, Sydney, New South Wales, Australia.
    Raheem, Olayinka
    Neuromuscular Research Unit, Tampere University and Hospital, Tampere, Finland.
    Udd, Bjarne
    Neuromuscular Research Unit, Tampere University and Hospital, Tampere, Finland / Department of Neurology, Vasa Central Hospital, Vasa, Finland / Department of Medical Genetics, Folkhälsan Genetic Institute, Helsinki University, Helsinki, Finland.
    Argov, Zohar
    Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Oldfors, Anders
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations2014In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 22, no 6, p. 801-808Article in journal (Refereed)
    Abstract [en]

    Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, we describe for the first time the clinical and morphological characteristics of recessive myosin IIa myopathy associated with MYH2 missense mutations. Seven patients of five different families with a myopathy characterized by ophthalmoplegia and mild-to-moderate muscle weakness were investigated. Muscle biopsy was performed to study morphological changes and MyHC isoform expression. Five of the patients were homozygous for MYH2 missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation. Muscle biopsy demonstrated small or absent type 2A muscle fibers and reduced or absent expression of the corresponding MyHC IIa transcript and protein. We conclude that mild muscle weakness and ophthalmoplegia in combination with muscle biopsy demonstrating small or absent type 2A muscle fibers are the hallmark of recessive myopathy associated with MYH2 mutations.

  • 162.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska Hospital, Gothenburg, Sweden.
    Hilton-Jones, David
    Department of Neurology, West Wing, John Racliffe Hospital, Oxford, UK.
    Raheem, Olayinka
    Neuromuscular Centre, Tampere University and Hospital, Tampere, Finland.
    Saukkonen, Anna Maija
    Department of Neurology, Central Hospital of Northern Karelia, Joensuu, Finland.
    Oldfors, Anders
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska Hospital, Gothenburg, Sweden.
    Udd, Bjarne
    Neuromuscular Centre, Tampere University and Hospital, Tampere, Finland / Department of Neurology, Vasa Central Hospital, Vasa, Finland / Folkhälsan Genetic Institute, Department of Medical Genetics, Helsinki University, Helsinki, Finland.
    Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations2010In: Brain, ISSN 0006-8950, E-ISSN 1460-2156, Vol. 133, no 5, p. 1451-1459Article in journal (Refereed)
    Abstract [en]

    Striated muscle myosin heavy chain is a molecular motor protein that converts chemical energy into mechanical force. It is a major determinant of the physiological properties of each of the three muscle fibre types that make up the skeletal muscles. Heterozygous dominant missense mutations in myosin heavy chain genes cause various types of cardiomyopathy and skeletal myopathy, but the effects of myosin heavy chain null mutations in humans have not previously been reported. We have identified the first patients lacking fast type 2A muscle fibres, caused by total absence of fast myosin heavy chain IIa protein due to truncating mutations of the corresponding gene MYH2. Five adult patients, two males and three females, from three unrelated families in UK and Finland were clinically assessed and muscle biopsy was performed in one patient from each family. MYH2 was sequenced and the expression of the corresponding transcripts and protein was analysed in muscle tissue. The patients had early-onset symptoms characterized by mild generalized muscle weakness, extraocular muscle involvement and relatively favourable prognosis. Muscle biopsy revealed myopathic changes including variability of fibre size, internalized nuclei, and increased interstitial connective and adipose tissue. No muscle fibres expressing type IIa myosin heavy chain were identified and the MYH2 transcripts were markedly reduced. All patients were compound heterozygous for truncating mutations in MYH2. The parents were unaffected, consistent with recessive mutations. Our findings show that null mutations in the fast myosin heavy chain IIa gene cause early onset myopathy and demonstrate that this isoform is necessary for normal muscle development and function. The relatively mild phenotype is interesting in relation to the more severe phenotypes generally seen in relation to recessive null mutations in sarcomeric proteins.

  • 163.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Kimber, Eva
    Department of Neuropediatrics, Uppsala University Children's Hospital, Uppsala, Sweden.
    Holmgren, D.
    Division of Pediatric Cardiology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Tulinius, M.
    Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation2007In: Neurology, ISSN 0028-3878, E-ISSN 1526-632X, Vol. 68, no 10, p. 772-775Article in journal (Refereed)
    Abstract [en]

    Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin-myosin interaction. We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM. Our results demonstrate the involvement of muscle dysfunction in the pathogenesis of DA and the fact that DA2B may be caused by mutations in TPM2.

  • 164.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Kimber, Eva
    Departments of Pediatrics, Institute for Clinical Sciences, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden / Department of Neuropediatrics, Uppsala University Children's Hospital, Uppsala, Sweden.
    Kroksmark, Anna-Karin
    Departments of Pediatrics, Institute for Clinical Sciences, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden / Queen Silvia's Children's Hospital, Göteborg, Sweden.
    Jerre, Ragnar
    Department of Orthopedics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Tulinius, Mar
    Departments of Pediatrics, Institute for Clinical Sciences, Sahlgrenska Academy at Göteborg University, Göteborg, Sweden / Queen Silvia's Children's Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally2008In: Archives of Neurology, ISSN 0003-9942, E-ISSN 1538-3687, Vol. 65, no 8, p. 1083-1090Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Myosin is a molecular motor and the essential part of the thick filament of striated muscle. The expression of myosin heavy-chain (MyHC) isoforms is developmentally regulated. The embryonic isoform encoded from MYH3 (OMIM *160720) is expressed during fetal life. Recently, mutations in MYH3 were demonstrated to be associated with congenital joint contractures, that is, Freeman-Sheldon and Sheldon-Hall syndromes, which are both distal arthrogryposis syndromes. Mutations in other MyHC isoforms cause myopathy. It is unknown whether MYH3 mutations cause myopathy because muscle tissue has not been studied.

    OBJECTIVES: To determine whether novel MYH3 mutations are associated with distal arthrogryposis and to demonstrate myopathic changes in muscle biopsy specimens from 4 patients with distal arthrogryposis and MYH3 mutations.

    DESIGN: In a cohort of patients with distal arthrogryposis, we analyzed the entire coding sequence of MYH3. Muscle biopsy specimens were obtained, and in addition to morphologic analysis, the expression of MyHC isoforms was investigated at the protein and transcript levels.

    RESULTS: We identified patients from 3 families with novel MYH3 mutations. These mutations affect developmentally conserved residues that are located in different regions of the adenosine triphosphate-binding pocket of the MyHC head. The embryonic (MYH3) isoform was not detected in any of the muscle biopsy samples, indicating a normal developmental downregulation of MYH3 in these patients. However, morphologic analysis of muscle biopsy specimens from the 4 patients revealed mild and variable myopathic features and a pathologic upregulation of the fetal MyHC isoform (MYH8) in 1 patient.

    CONCLUSIONS: Distal arthrogryposis associated with MYH3 mutations is secondary to myosin myopathy, and postnatal muscle manifestations are variable.

  • 165.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Leren, Trond P.
    Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
    Abdul-Hussein, Saba
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Tulinius, Mar
    Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Brunvand, Leif
    Department of Pediatrics, Ullevål University Hospital, Oslo, Norway.
    Dahl, Hilde M.
    Department of Pediatrics, Ullevål University Hospital, Oslo, Norway.
    Oldfors, Anders
    Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden.
    Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C2010In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 47, no 8, p. 575-577Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Myosin binding protein C (MyBPC) is essential for the structure of the sarcomeres in striated muscle. There is one cardiac specific isoform and two skeletal muscle specific isoforms. Mutations in MYBPC3 encoding the cardiac isoform cause cardiomyopathy.

    METHODS AND RESULTS: We have identified an infant with fatal cardiomyopathy due to a homozygous mutation, p.R943X, in MYBPC3. The patient also had an unexpected skeletal myopathy. The patient expressed the cardiac specific MyBPC isoform in skeletal muscle at transcript and protein levels. Numerous muscle fibres expressing the mutant cardiac isoform showed structural abnormalities with disorganisation of sarcomeres and depletion of myosin thick filaments.

    CONCLUSIONS: The surprising identification of a skeletal myopathy in this patient was due to aberrant expression of mutant cardiac MyBPC in skeletal muscle.

  • 166.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Ohlsson, M.
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Palm, L.
    Department of Paediatrics Malmö, Skåne University Hospital, Malmö, Sweden.
    Oldfors, A.
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Myopathies associated with β-tropomyosin mutations2012In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 22, no 11, p. 923-933Article, review/survey (Refereed)
    Abstract [en]

    Mutations in TPM2, encoding β-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of β-tropomyosin-associated diseases and describe an additional case with a novel mutation. The manifestations of mutations in TPM2 include non-specific congenital myopathy with type 1 fibre predominance, nemaline myopathy, cap disease and distal arthrogryposis. In addition, Escobar syndrome with nemaline myopathy is a manifestation of homozygous truncating β-tropomyosin mutation. Cap disease appears to be the most common morphological manifestation. A coarse intermyofibrillar network and jagged Z lines are additional frequent changes. The dominant β-tropomyosin mutations manifest either as congenital myopathy or distal arthrogryposis. The various congenital myopathies are usually associated with moderate muscle weakness and no congenital joint contractures. The distal arthrogryposis syndromes associated with TPM2 mutations include the less severe forms, with congenital contractures mainly of the hands and feet and mild or no muscle weakness. The dominant TPM2 mutations include amino acid deletions/insertions and missense mutations. There is no clear relation between the type of mutations or the localisation of the mutated residue in the β-tropomyosin molecule and the clinical and morphological phenotype.

  • 167.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Ohlsson, Monica
    Department of Internal Medicine, Sahlgrenska University Hospital, Göteborg, Sweden.
    Lindberg, Christopher
    Department of Neurology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)2007In: Archives of Neurology, ISSN 0003-9942, E-ISSN 1538-3687, Vol. 64, no 9, p. 1334-1338Article in journal (Refereed)
    Abstract [en]

    OBJECTIVE: To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.

    PATIENTS: A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness. They had weakness in both proximal and distal muscles and facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, and micrognathia.

    RESULTS: Muscle biopsy specimens in the mother at age 57 years had shown nemaline myopathy, whereas a biopsy specimen at age 32 years had demonstrated no rods. Muscle biopsy specimens in the daughter at age 26 years had shown features of cap disease and no apparent nemaline rods. A missense mutation, Glu41Lys, in the beta-tropomyosin gene TPM2 was identified in both patients but was absent in their healthy relatives.

    CONCLUSIONS: The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance. These disorders may thus be phenotypic variants of the same genetic defect.

  • 168.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Oldfors, Anders
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Myosinopathies: pathology and mechanisms2013In: Acta Neuropathologica, ISSN 0001-6322, E-ISSN 1432-0533, Vol. 125, no 1, p. 3-18Article, review/survey (Refereed)
    Abstract [en]

    The myosin heavy chain (MyHC) is the molecular motor of muscle and forms the backbone of the sarcomere thick filaments. Different MyHC isoforms are of importance for the physiological properties of different muscle fiber types. Hereditary myosin myopathies have emerged as an important group of diseases with variable clinical and morphological expression depending on the mutated isoform and type and location of the mutation. Dominant mutations in developmental MyHC isoform genes (MYH3 and MYH8) are associated with distal arthrogryposis syndromes. Dominant or recessive mutations affecting the type IIa MyHC (MYH2) are associated with early-onset myopathies with variable muscle weakness and ophthalmoplegia as a consistent finding. Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/β cardiac MyHC (MYH7). Protein aggregation is part of the features in some of these myopathies. In myosin storage myopathy protein aggregates are formed by accumulation of myosin beneath the sarcolemma and between myofibrils. In vitro studies on the effects of different mutations associated with myosin storage myopathy and Laing distal myopathy indicate altered biochemical and biophysical properties of the light meromyosin, which is essential for thick filament assembly. Protein aggregates in the form of tubulofilamentous inclusions in association with vacuolated muscle fibers are present at late stage of dominant myosin IIa myopathy and sometimes in Laing distal myopathy. These protein aggregates exhibit features indicating defective degradation of misfolded proteins. In addition to protein aggregation and muscle fiber degeneration some of the myosin mutations cause functional impairment of the molecular motor adding to the pathogenesis of myosinopathies.

  • 169.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Macleod, Dominic P.
    Department of Respiratory Medicine, Royal London Hospital, United Kingdom.
    Swash, Michael
    Department of Neurology, Royal London Hospital, United Kingdom.
    Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy2007In: Neurology, ISSN 0028-3878, E-ISSN 1526-632X, Vol. 68, no 12, p. 962-Article in journal (Refereed)
  • 170.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Swash, M.
    Department of Neurology, Queen Mary School of Medicine, Royal London Hospital, London, UK.
    Myosin storage myopathy with cardiomyopathy2007In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 17, no 9-10, p. 725-Article in journal (Refereed)
  • 171.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Göteborg University, Sahlgrenska Hospital, Göteborg, Sweden.
    Pilon, Marc
    Chalmers University, Lundberg Laboratory, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Göteborg University, Sahlgrenska Hospital, Göteborg, Sweden.
    A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation2005In: Annals of Neurology, ISSN 0364-5134, E-ISSN 1531-8249, Vol. 58, no 3, p. 442-448Article in journal (Refereed)
    Abstract [en]

    Mutations in myosin heavy chain (MyHC) genes recently have been shown to be associated with various forms of congenital myopathies: myosin myopathies. The MyHC IIa E706K mutation is associated with congenital joint contractures, early-onset muscle weakness, and progressive course with moderate to severe muscle weakness later in life. To study the pathogenicity of this MyHC mutation, we investigated the effect of the corresponding mutation (E710K) in the major MyHC isoform (MyHC B) of the body wall muscle of the nematode Caenorhabditis elegans. Worms with null mutations in the MyHC B gene (unc-54) are severely paralyzed and depleted of thick filaments in the body wall muscle sarcomeres. unc-54 null mutants with extrachromosomal arrays of a gene construct including the entire wild-type unc-54 gene were partially rescued as determined by a motility assay and by morphological analysis of the body wall muscle. Analysis of unc-54 null mutants with extrachromosomal arrays of the unc-54 gene with the E710K mutation were severely paralyzed but showed formation of thick filaments in the body wall muscle. We conclude that the MyHC E706K (E710K in C. elegans) mutation is pathogenic and that the effect is primarily functional rather than structural because thick filaments are formed. The C. elegans model may be useful to study suspected pathogenic mutations in MyHC genes associated with human muscle diseases.

  • 172.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Sunnerhagen, Katharina Stibrant
    Department of Rehabilitation Medicine, Sahlgrenska University Hospital, Göteborg, Sweden.
    Darin, Niklas
    Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Kyllerman, Mårten
    Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Induced shift in myosin heavy chain expression in myosin myopathy by endurance training2004In: Journal of Neurology, ISSN 0340-5354, E-ISSN 1432-1459, Vol. 251, no 2, p. 179-183Article in journal (Refereed)
    Abstract [en]

    We recently described a new autosomal dominant myopathy (OMIM #605637) associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene ( MYH2), which encodes for the fast myosin isoform that is expressed in type 2A muscle fibers. There was a correlation between muscle pathology and expression of MyHC IIa. Low expression of the mutation was associated with a milder phenotype. Since physical activity influences MyHC isoform expression in normal individuals, we investigated whether endurance training can alter the expression of MyHC isoforms in patients with the MYH2 mutation. The expression of MyHC I, IIa and IIx was analysed in muscle specimens from six patients before and after an eight-week endurancetraining program by SDS-polyacrylamide gel electrophoresis and immuno-histochemistry. There was a clear and consistent shift from fast to slow MyHC isoform expression, but the training program did not result in the desired reduction of MyHC IIa, which may be due to the limited time period of training. Fiber type transition was further illustrated by the appearance of hybrid muscle fibers expressing more than one MyHC isoform after the training period. All patients showed an increase in maximal workload but no significant change in isometric muscle strength.We conclude that endurance training in patients with myosin myopathy may be an important way to alter the expression of defective MyHC isoforms.

  • 173.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.
    Thornell, Lars-Eric
    Department of Integrative Medical Biology, Section for Anatomy, Umeå University, Umeå.
    Lindberg, Christopher
    Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.
    Lindvall, Björn
    Neuromuscular Unit, University Hospital, Linköping, Sweden.
    Henriksson, Karl-Gösta
    Neuromuscular Unit, University Hospital, Linköping, Sweden.
    Oldfors, Anders
    Department of Pathology, Neuromuscular Center, Sahlgrenska University Hospital, Göteborg, Sweden.
    Myosin storage myopathy associated with a heterozygous missense mutation in MYH72003In: Annals of Neurology, ISSN 0364-5134, E-ISSN 1531-8249, Vol. 54, no 4, p. 494-500Article in journal (Refereed)
    Abstract [en]

    Myosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/beta-cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles. Numerous missense mutations in the globular head of slow/beta-cardiac MyHC are associated with familial hypertrophic cardiomyopathy. We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. The myopathy was characterized by muscle weakness and wasting with onset in childhood and slow progression, but no overt cardiomyopathy. Slow, oxidative, type 1 muscle fibers showed large inclusions consisting of slow/beta-cardiac MyHC. The features were similar to a previously described entity: hyaline body myopathy. Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease.

  • 174.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Thornell, L.-E.
    Department of Anatomy, Umeå University, Umeå, Sweden.
    Darin, Niklas
    Department of Pediatrics, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Martinsson, T.
    Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Kyllerman, M.
    Department of Pediatrics, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Wahlström, J.
    Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Oldfors, Anders
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age2002In: Neurology, ISSN 0028-3878, E-ISSN 1526-632X, Vol. 58, no 5, p. 780-786Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: The authors recently described a new autosomal dominant myopathy (OMIM 605637 inclusion body myopathy 3) associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene (MyHC IIa, Human Gene Map [HGM] locus MYH2). Young patients showed minor changes in their muscle biopsies, although dystrophic alterations and rimmed vacuoles with 15- to 20-nm tubulofilaments identical to those in sporadic inclusion body myositis (s-IBM) were observed in some of the adult (especially older) patients. The current study was undertaken to investigate the relation between expression of the mutant MyHC IIa and pathologic changes in muscle.

    METHODS: The expression of MyHC IIa in nine muscle specimens from six individuals carrying the mutation was analyzed by immunohistochemistry, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and a new reverse transcriptase--PCR method to measure the relative abundance of the various MyHC transcripts.

    RESULTS: Young patients with muscle weakness and minor pathologic changes in muscle expressed MyHC IIa at undetectable levels. MyHC IIa was expressed at high levels in adults with a progressive clinical course and dystrophic muscle changes. In these cases, a large number of muscle fibers were hybrids with expression of more than one MyHC isoform. Both MyHC IIa alleles were equally expressed. The relative level of MyHC IIa transcripts exceeded that of the corresponding protein, indicating an increased turnover of mutated protein. MyHC IIa expression was a consistent finding in muscle fibers with rimmed vacuoles.

    CONCLUSIONS: The clear correlation between pathologic changes and expression of MyHC IIa indicates that defects in MyHC may lead not only to muscle weakness but also to muscle degeneration. The consistent expression of MyHC IIa in muscle fibers with rimmed vacuoles indicates that the breakdown of sarcomeric proteins is a key element in the pathogenesis of rimmed vacuoles of s-IBM type.

  • 175.
    Takahashi, Yuki
    et al.
    Karolinska Inst, Stockholm, Sweden / Japanese Red Cross Toyota Coll Nursing, Aichi, Japan.
    Jonas, Wibke
    Karolinska Inst, Stockholm, Sweden / Univ Toronto, Canada.
    Ransjo-Arvidson, Anna-Berit
    Karolinska Inst, Stockholm, Sweden.
    Lidfors, Lena
    Swedish University of Agricultural Sciences, Skara, Sweden.
    Uvnäs Moberg, Kerstin
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre. Swedish University of Agricultural Sciences, Skara, Sweden.
    Nissen, Eva
    Karolinska Institutet, Stockholm, Sweden.
    Weight loss and low age are associated with intensity of rooting behaviours in newborn infants2015In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 104, no 10, p. 1018-1023Article in journal (Refereed)
    Abstract [en]

    Aim: Little is known about the developing breastfeeding behaviour of newborn infants. This study describes infants' prebreastfeeding behaviour during the second day of life and explores possible associations with infant characteristics. Methods: We studied 13 mothers and healthy full-term infants after normal births. At 2448 hours of life, the newborns were placed in skin-to-skin contact with their mothers for breastfeeding and were video-filmed. The order, frequency and duration of predefined infant prefeeding behaviours and suckling were coded and analysed using computer-based video software. Results: Prefeeding behaviours occurred in the following order: rooting, hand to mouth movements, licking of the nipple and hand to breast to mouth movements. The infants started to suckle at a median of one to two minutes. Rooting was the most common behaviour, observed in 12 infants. The duration of rooting movements during the last minute before breastfeeding was inversely related to neonatal age (p = 0.001) and positively related to neonatal weight loss (p = 0.02) after birth. Conclusion: Infants exhibited a distinct sequence of prefeeding behaviours during the second day of life, and our findings suggest that rooting movements were governed by mechanisms involved in the regulation of food intake and weight gain.

  • 176.
    Tap, Julien
    et al.
    Danone Nutricia Research, Palaiseau, France / French National Institute for Agricultural Research (INRA) MetaGenoPolis, Jouy en Josas, France.
    Derrien, Muriel
    Danone Nutricia Research, Palaiseau, France.
    Törnblom, Hans
    Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden / Centre for Person-Centered Care, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Brazeilles, Rémi
    Danone Nutricia Research, Palaiseau, France.
    Cools-Portier, Stéphanie
    Danone Nutricia Research, Palaiseau, France.
    Doré, Joël
    French National Institute for Agricultural Research (INRA) MetaGenoPolis, Jouy en Josas, France.
    Störsrud, Stine
    Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Le Nevé, Boris
    Danone Nutricia Research, Palaiseau, France.
    Öhman, Lena
    University of Skövde, School of Health and Education. Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden / Department of Microbiology and Immunology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Simrén, Magnus
    Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden / Centre for Person-Centered Care, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden / Center for Functional GI and Motility Disorders, University of North Carolina, Chapel Hill, North Carolina, USA.
    Identification of an Intestinal Microbiota Signature Associated With Severity of Irritable Bowel Syndrome2017In: Gastroenterology, ISSN 0016-5085, E-ISSN 1528-0012, Vol. 152, no 1, p. 111-123.e8Article in journal (Refereed)
    Abstract [en]

    BACKGROUND & AIMS: We have limited knowledge about the association between the composition of the intestinal microbiota and clinical features of irritable bowel syndrome (IBS). We collected information on the fecal and mucosa-associated microbiota of patients with IBS and evaluated whether these were associated with symptoms.

    METHODS: We collected fecal and mucosal samples from adult patients who met the Rome III criteria for IBS at secondary or tertiary care outpatient clinics in Sweden, as well as from healthy subjects. The exploratory set comprised 149 subjects (110 with IBS and 39 healthy subjects); 232 fecal samples and 59 mucosal biopsy samples were collected and analyzed by 16S ribosomal RNA targeted pyrosequencing. The validation set comprised 46 subjects (29 with IBS and 17 healthy subjects); 46 fecal samples, but no mucosal samples, were collected and analyzed. For each subject, we measured exhaled H2 and CH4, oro-anal transit time, and the severity of psychological and gastrointestinal symptoms. Fecal methanogens were measured by quantitative polymerase chain reaction. Numeric ecology analyses and a machine learning procedure were used to analyze the data.

    RESULTS: Fecal microbiota showed covariation with mucosal adherent microbiota. By using classic approaches, we found no differences in fecal microbiota abundance or composition between patients with vs without IBS. A computational statistical technique-like machine learning procedure allowed us to reduce the 16S ribosomal RNA data complexity into a microbial signature for severe IBS, consisting of 90 bacterial operational taxonomic units. We confirmed the robustness of the intestinal microbial signature for severe IBS in the validation set. The signature was able to discriminate between patients with severe symptoms, patients with mild/moderate symptoms, and healthy subjects. By using this intestinal microbiota signature, we found IBS symptom severity to be associated negatively with microbial richness, exhaled CH4, presence of methanogens, and enterotypes enriched with Clostridiales or Prevotella species. This microbiota signature could not be explained by differences in diet or use of medications.

    CONCLUSIONS: In analyzing fecal and mucosal microbiota from patients with IBS and healthy individuals, we identified an intestinal microbiota profile that is associated with the severity of IBS symptoms.

    TRIAL REGISTRATION NUMBER: NCT01252550.

  • 177.
    Theurich, Melissa Ann
    et al.
    LMU - Ludwig-Maximilians-Universität Munich, Div. Metabolic and Nutritional Medicine, Dr. von Hauner Children's Hospital, Munich, Germany.
    Davanzo, Riccardo
    Department of Mother and Child Health, ASM-Matera and Task Force on Breastfeeding, MOH, Rome, Italy.
    Busck-Rasmussen, Marianne
    Danish Committee for Health Education, Copenhagen, Denmark.
    Díaz-Gómez, N. Marta
    Instituto de Tecnologías Biomédicas (ITB) and Centro de Investigaciones Biomédicas de Canarias (CIBICAN), Universidad de La Laguna, Spain.
    Brennan, Christine
    Breastfeeding Promotion Foundation, Bern, Switzerland.
    Kylberg, Elisabeth
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Bærug, Anne
    Norwegian National Advisory Unit on Breastfeeding, Oslo, Norway.
    McHugh, Laura
    Health Service Executive, Ennis, Ireland.
    Weikert, Cornelia
    German Federal Institute for Risk Assessment, Department of Food Safety, Berlin, Germany.
    Abraham, Klaus
    German Federal Institute for Risk Assessment, Department of Food Safety, Berlin, Germany.
    Koletzko, Berthold
    LMU - Ludwig-Maximilians-Universität Munich, Div. Metabolic and Nutritional Medicine, Dr. von Hauner Children's Hospital, Munich, Germany.
    Breastfeeding Rates and Programs in Europe: A Survey of 11 National Breastfeeding Committees and Representatives2019In: Journal of Pediatric Gastroenterology and Nutrition - JPGN, ISSN 0277-2116, E-ISSN 1536-4801, Vol. 68, no 3, p. 400-407Article in journal (Refereed)
    Abstract [en]

    INTRODUCTION: Among the world's regions, the WHO European Region has the lowest rates of exclusive breastfeeding at age 6 months with around 25%. Low rates and early cessation of breastfeeding have important adverse health consequences for women, infants and young children. Protecting, promoting and supporting breastfeeding are a public health priority.

    OBJECTIVES: National breastfeeding data and monitoring systems among selected European countries and the WHO European Region are compared. Mechanisms for the support, protection and promotion of breastfeeding are reviewed and successes and challenges in implementation of national programs are presented.

    METHODS: National representatives of national breastfeeding committees and initiatives in eleven European countries, including Belgium, Croatia, Denmark, Germany, Ireland, Italy, The Netherlands, Norway, Spain, Sweden and Switzerland, participated in a standardized survey. Results are evaluated and compared in a narrative review.

    RESULTS: Variation exists in Europe on breastfeeding rates, methodology for data collection and mechanisms for support, protection and promotion of breastfeeding. Directly after birth, between 56 and 98 % of infants in all countries were reported to receive any human milk, and at 6 months 38-71% and 13-39 % of infants to be breastfed or exclusively breastfed, respectively. National plans addressing breastfeeding promotion, protection and support exist in 6 of the 11 countries.

    CONCLUSIONS: National governments should commit to evidence-based breastfeeding monitoring and promotion activities, including financial and political support, to improve breastfeeding rates in the Europe. Renewed efforts for collaboration between countries in Europe, including a sustainable platform for information exchange, are needed.

  • 178.
    Thorstensson, Stina
    et al.
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Claesson, Amanda
    Mölndal labour ward, Sahlgrenska University Hospital, Göteborg, Sweden.
    Packalen, Anna
    Kvinnokliniken, Skaraborgs Sjukhus Skövde, Sweden.
    Hertfelt Wahn, Elisabeth
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Ekström, Anette
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Validating the Mother-to-Infant Relation and Feelings' scale by first-time mothers' descriptions three months after birth2014In: Journal of Women's Health, Issues & Care, ISSN 2325-9795, Vol. 3, no 6, article id 1000173Article in journal (Refereed)
  • 179.
    Tilevik, Diana
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    Long-term effects of penicillin resistance and fitness cost on pneumococcal transmission dynamics in a developed setting2016In: Infection Ecology & Epidemiology, ISSN 2000-8686, E-ISSN 2000-8686, Vol. 6, article id 31234Article in journal (Refereed)
    Abstract [en]

    Background: The increasing prevalence of penicillin non-susceptible pneumococci (PNSP) throughout the world threatens successful treatment of infections caused by this important bacterial pathogen. The rate at which PNSP clones spread in the community is thought to mainly be determined by two key determinants; the volume of penicillin use and the magnitude of the fitness cost in the absence of treatment. The aim of the study was to determine the impacts of penicillin consumption and fitness cost on pneumococcal transmission dynamics in a developed country setting.

    Methods: An individual-based network model based on real-life demographic data was constructed and applied in a developed country setting (Sweden). A population structure with transmission of carriage taking place within relevant mixing groups, i.e. families, day care groups, school classes, and other close contacts, was considered to properly assess the transmission dynamics for susceptible and PNSP clones. Several scenarios were simulated and model outcomes were statistically analysed.

    Results: Model simulations predicted that with an outpatient penicillin use corresponding to the sales in Sweden 2010 (118 recipes per 1,000 inhabitants per year), the magnitude of a fitness cost for resistance must be at least 5% to offset the advantage of penicillin resistance. Moreover, even if there is a fitness cost associated with penicillin resistance, a considerable reduction of penicillin usage appears to be required to significantly decrease the incidence of PNSP in a community.

    Conclusion: The frequency of PNSP clones is hard to reverse by simply reducing the penicillin consumption even if there is a biological cost associated with resistance. However, because penicillin usage does promote further spread of PNSP clones, it is important to keep down penicillin consumption considering future resistance problems.

  • 180.
    Timpka, Toomas
    et al.
    Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
    Schyllander, Jan
    Swedish Civil Contingencies Agency, Karlstad, Sweden.
    Stark Ekman, Diana
    University of Skövde, School of Health and Education. University of Skövde, Health and Education. School of Public Health Sciences, Walden University, Minneapolis, MN, USA.
    Ekman, Robert
    Department of Architecture, Chalmers University of Technology, Gothenburg, Sweden.
    Dahlström, Örjan
    Department of Behavioural Sciences and Learning, Linköping University, Linköping, Sweden.
    Hägglund, Martin
    Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
    Kristenson, Karolina
    Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
    Jacobsson, Jenny
    Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
    Community-level football injury epidemiology: traumatic injuries treated at Swedish emergency medical facilities2018In: European Journal of Public Health, ISSN 1101-1262, E-ISSN 1464-360X, Vol. 28, no 1, p. 94-99Article in journal (Refereed)
    Abstract [en]

    Background: Despite the popularity of the sport, few studies have investigated community-level football injury patterns. This study examines football injuries treated at emergency medical facilities using data from three Swedish counties.

    Methods: An open-cohort design was used based on residents aged 0-59 years in three Swedish counties (pop. 645 520). Data were collected from emergency medical facilities in the study counties between 1 January 2007 and 31 December 2010. Injury frequencies and proportions for age groups stratified by sex were calculated with 95% confidence intervals (95% CIs) and displayed per diagnostic group and body location.

    Results: Each year, more than 1/200 person aged 0-59 years sustained at least one injury during football play that required emergency medical care. The highest injury incidence was observed among adolescent boys [2009 injuries per 100 000 population years (95% CI 1914-2108)] and adolescent girls [1413 injuries per 100 000 population years (95% CI 1333-1498)]. For female adolescents and adults, knee joint/ligament injury was the outstanding injury type (20% in ages 13-17 years and 34% in ages 18-29 years). For children aged 7-12 years, more than half of the treated injuries involved the upper extremity; fractures constituted about one-third of these injuries.

    Conclusions: One of every 200 residents aged 0-59 years in typical Swedish counties each year sustained a traumatic football injury that required treatment in emergency healthcare. Further research on community-level patterns of overuse syndromes sustained by participation in football play is warranted.

  • 181.
    Toto, Robert D.
    et al.
    University of Texas Southwestern Medical Center, Dallas, TX, USA.
    Goldenberg, Ronald
    LMC Diabetes & Endocrinology, Thornhill, ON, Canada.
    Chertow, Glenn M.
    Stanford University School of Medicine, CA, USA.
    Cain, Valerie
    Bogier Clinical and IT Solutions, Raleigh, NC, USA.
    Stefánsson, Bergur V.
    Late-stage Development, Cardiovascular, Renal and Metabolism, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
    Sjöström, Carl David
    Late-stage Development, Cardiovascular, Renal and Metabolism, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
    Sartipy, Peter
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre. Late-stage Development, Cardiovascular, Renal and Metabolism, BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden.
    Correction of hypomagnesemia by dapagliflozin in patients with type 2 diabetes: A post hoc analysis of 10 randomized, placebo-controlled trials2019In: Journal of diabetes and its complications, ISSN 1056-8727, E-ISSN 1873-460X, Vol. 33, no 10, article id 107402Article in journal (Refereed)
    Abstract [en]

    Aims: Hypomagnesemia (serum magnesium [Mg] <0.74 mmol/L [<1.8 mg/dL]) is commonly observed in patients with type 2 diabetes (T2D). This study investigated the effect of treatment with dapagliflozin 10 mg on Mg concentrations in patients with T2D. Methods: In this post hoc analysis, we used pooled data from 10 placebo-controlled studies of dapagliflozin over 24 weeks of treatment in patients with T2D. We evaluated the change in Mg in patients receiving dapagliflozin vs. placebo overall, and in subgroups with baseline hypomagnesemia and normal/hypermagnesemia (≥0.74 mmol/L [≥1.8 mg/dL]). We determined the proportion of patients with baseline hypomagnesemia who achieved Mg ≥0.74 mmol/L (≥1.8 mg/dL). Results: A total of 4398 patients with T2D were included. The mean change from baseline to week 24 in Mg was significantly larger with dapagliflozin vs. placebo; difference, 0.06 mmol/L (95% confidence interval [CI]: 0.05, 0.06). The proportion of patients with Mg within the population reference range after 24 weeks of treatment was significantly higher with dapagliflozin vs. placebo; difference, 47.8% (95% CI: 41.4, 53.9). The proportion of patients displaying hypermagnesemia did not increase with dapagliflozin treatment. Conclusions: Treatment with dapagliflozin 10 mg resulted in correction of Mg concentrations in patients with T2D and hypomagnesemia. 

  • 182.
    Trigo Algar, Antonio Rafael
    University of Skövde, School of Humanities and Informatics.
    Serious Games For Overcoming Phobias: The Benefits of Game Elements2014Independent thesis Advanced level (degree of Master (One Year)), 10 credits / 15 HE creditsStudent thesis
    Abstract [en]

    This thesis analyses the benefits of applying game elements to a Virtual Reality application for overcoming phobias, with a special focus on acrophobia, i.e. the fear of heights. Two different prototypes using the Oculus Rift head-mounted display were developed with a gradually exposure to heights. Both prototypes shared the same acrophobic scenario, but one included extra features from games such as engagement, motivation or goals. Twenty-four participants, divided into two groups of twelve, with moderate aversion to heights tested the prototypes. The participants’ heart rate and the time that they looked down from high altitudes were also measured and evaluated. The study showed slightly higher results regarding motivation for the prototype which included the additional game elements. Future studies should include a different head-mounted display, which would allow a longer time of play without motion sickness, and the participation of people diagnosed with acrophobia.

  • 183.
    Ulfenborg, Benjamin
    et al.
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    Jurcevic, Sanja
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    Lindelöf, Angelica
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    Klinga-Levan, Karin
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    Olsson, Björn
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    miREC: a database of miRNAs involved in the development of endometrial cancer2015In: BMC Research Notes, ISSN 1756-0500, E-ISSN 1756-0500, Vol. 8, no 1, article id 104Article in journal (Refereed)
    Abstract [en]

    Background

    Endometrial cancer (EC) is the most frequently diagnosed gynecological malignancy and the fourth most common cancer diagnosis overall among women. As with many other forms of cancer, it has been shown that certain miRNAs are differentially expressed in EC and these miRNAs are believed to play important roles as regulators of processes involved in the development of the disease. With the rapidly growing number of studies of miRNA expression in EC, there is a need to organize the data, combine the findings from experimental studies of EC with information from various miRNA databases, and make the integrated information easily accessible for the EC research community.

    Findings

    The miREC database is an organized collection of data and information about miRNAs shown to be differentially expressed in EC. The database can be used to map connections between miRNAs and their target genes in order to identify specific miRNAs that are potentially important for the development of EC. The aim of the miREC database is to integrate all available information about miRNAs and target genes involved in the development of endometrial cancer, and to provide a comprehensive, up-to-date, and easily accessible source of knowledge regarding the role of miRNAs in the development of EC. Database URL: http://www.mirecdb.orgwebcite.

    Conclusions

    Several databases have been published that store information about all miRNA targets that have been predicted or experimentally verified to date. It would be a time-consuming task to navigate between these different data sources and literature to gather information about a specific disease, such as endometrial cancer. The miREC database is a specialized data repository that, in addition to miRNA target information, keeps track of the differential expression of genes and miRNAs potentially involved in endometrial cancer development. By providing flexible search functions it becomes easy to search for EC-associated genes and miRNAs from different starting points, such as differential expression and genomic loci (based on genomic aberrations).

  • 184.
    Uvnäs-Moberg, Kerstin
    et al.
    University of Agriculture (SLU), Uppsala, Sweden.
    Ekström-Bergström, Anette
    University of Skövde, School of Health and Education. University of Skövde, Health and Education. Department of Health Sciences, University West, Trollhättan, Sweden.
    Berg, Marie
    Institute of Health and Care Sciences, University of Gothenburg, Sweden / Centre for Person-Centred Care, University of Gothenburg, Sweden.
    Buckley, Sarah
    School of Public Health, University of Queensland, Brisbane, Australia.
    Pajalic, Zada
    Faculty of Health Sciences, Oslo and Akershus University, College of Applied Sciences, Oslo, Norway.
    Hadjigeorgiou, Eleni
    Faculty of Health Sciences, Cyprus, University of Technology, Limassol, Cyprus.
    Kotłowska, Alicja
    Faculty of Health Sciences with Subfaculty of Nursing, Institute of Maritime and Tropical Medicine, Medical University of Gdańsk, Gdańsk, Poland.
    Lengler, Luise
    Midwifery Research and Education Unit, Hannover Medical School, Hannover, Germany.
    Kielbratowska, Bogumila
    Faculty of Medical Sciences, Medical University of Gdańsk, Gdańsk, Poland.
    Leon-Larios, Fatima
    Faculty of Nursing, Physiotherapy and Podiatry, University of Seville, Seville, Spain.
    Magistretti, Claudia Meier
    Department of Social Work Center for Health Promotion and Social Participation, Lucerne University of Applied Sciences and Arts, Luzern, Switzerland.
    Downe, Soo
    Research in Childbirth and Health (ReaCH) Group, University of Central Lancashire, Preston, United Kingdom.
    Lindström, Bengt
    Norwegian University of Science and Technology, Trondheim, Norway.
    Dencker, Anna
    Institute of Health and Care Sciences, University of Gothenburg, Sweden / Centre for Person-Centred Care, University of Gothenburg, Sweden.
    Maternal plasma levels of oxytocin during physiological childbirth: A systematic review with implications for uterine contractions and central actions of oxytocin2019In: BMC Pregnancy and Childbirth, ISSN 1471-2393, E-ISSN 1471-2393, Vol. 19, no 1, article id 285Article, review/survey (Refereed)
    Abstract [en]

    Background: Oxytocin is a key hormone in childbirth, and synthetic oxytocin is widely administered to induce or speed labour. Due to lack of synthetized knowledge, we conducted a systematic review of maternal plasma levels of oxytocin during physiological childbirth, and in response to infusions of synthetic oxytocin, if reported in the included studies. Methods: An a priori protocol was designed and a systematic search was conducted in PubMed, CINAHL, and PsycINFO in October 2015. Search hits were screened on title and abstract after duplicates were removed (n = 4039), 69 articles were examined in full-text and 20 papers met inclusion criteria. As the articles differed in design and methodology used for analysis of oxytocin levels, a narrative synthesis was created and the material was categorised according to effects. Results: Basal levels of oxytocin increased 3-4-fold during pregnancy. Pulses of oxytocin occurred with increasing frequency, duration, and amplitude, from late pregnancy through labour, reaching a maximum of 3 pulses/10 min towards the end of labour. There was a maximal 3- to 4-fold rise in oxytocin at birth. Oxytocin pulses also occurred in the third stage of labour associated with placental expulsion. Oxytocin peaks during labour did not correlate in time with individual uterine contractions, suggesting additional mechanisms in the control of contractions. Oxytocin levels were also raised in the cerebrospinal fluid during labour, indicating that oxytocin is released into the brain, as well as into the circulation. Oxytocin released into the brain induces beneficial adaptive effects during birth and postpartum. Oxytocin levels following infusion of synthetic oxytocin up to 10 mU/min were similar to oxytocin levels in physiological labour. Oxytocin levels doubled in response to doubling of the rate of infusion of synthetic oxytocin. Conclusions: Plasma oxytocin levels increase gradually during pregnancy, and during the first and second stages of labour, with increasing size and frequency of pulses of oxytocin. A large pulse of oxytocin occurs with birth. Oxytocin in the circulation stimulates uterine contractions and oxytocin released within the brain influences maternal physiology and behaviour during birth. Oxytocin given as an infusion does not cross into the mother's brain because of the blood brain barrier and does not influence brain function in the same way as oxytocin during normal labour does. 

  • 185.
    Vestman, C.
    et al.
    Department of Dialysis, Skaraborgs Hospital, Skövde, Sweden.
    Hasselroth, M.
    Department of Dialysis, Skaraborgs Hospital, Skövde, Sweden.
    Berglund, Mia
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Freedom and Confinement: Patients' Experiences of Life with Home Haemodialysis2014In: Nursing Research and Practice, ISSN 2090-1429, E-ISSN 2090-1437, article id 252643Article in journal (Refereed)
    Abstract [en]

    Patients with chronic end stage renal disease need dialysis to survive; however, they also need a treatment that suits their life situation. It is important that healthcare providers provide reliable, up-to-date information about different dialysis treatment options. Since home haemodialysis is a relatively new treatment, it is necessary to gather more knowledge about what the treatment entails from the patient’s perspective. The aim of this study was to describe patients’ experiences of having home haemodialysis. To gain access to the patients’ experiences, they were asked to write narratives, which describe both their good and bad experiences of life with the treatment. The narratives were analysed with a qualitative method. The results of this analysis are subdivided into five themes: freedom to be at home and control their own treatment, feeling of being alone with the responsibility, changes in the home environment, need for support, and security and well-being with home haemodialysis. The conclusion is that home haemodialysis provides a certain level of freedom, but the freedom is limited as the treatment itself is restrictive. In order to improve patients’ experiences with home haemodialysis, more research based on patients’ experiences is needed and it is necessary to involve the patients in the development of the care.

  • 186.
    Vixner, Linda
    et al.
    Department of Women’s and Children’s Health, Division of Reproductive Health, Karolinska Institutet, Stockholm, Sweden / School of Health and Social Studies, Dalarna University, Sweden.
    Mårtensson, Lena
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Schytt, Erica
    Department of Women’s and Children’s Health, Division of Reproductive Health, Karolinska Institutet, Sweden / Centre for Clinical Research Dalarna, Falun, Sweden.
    Acupuncture with manual and electrical stimulation for labour pain: a two month follow up of recollection of pain and birth experience2015In: BMC Complementary and Alternative Medicine, ISSN 1472-6882, E-ISSN 1472-6882, Vol. 15, no 1, article id 180Article in journal (Refereed)
  • 187.
    Vixner, Linda
    et al.
    Department of Women’s and Children’s Health, Division of Reproductive Health, Karolinska Institutet, Stockholm, Sweden / School of Health and Social Studies, Dalarna University, Falun, Sweden.
    Schytt, Erica
    Department of Women’s and Children’s Health, Division of Reproductive Health, Karolinska Institutet, Stockholm, Sweden / Centre for Clinical Research Dalarna, Falun, Sweden.
    Stener-Victorin, Elisabet
    Department of Physiology, Sahlgrenska Academy, Institute of Neuroscience and Physiology, University of Gothenburg, Sweden.
    Waldenström, Ulla
    Department of Women’s and Children’s Health, Division of Reproductive Health, Karolinska Institutet, Stockholm, Sweden.
    Pettersson, Hans
    Department of Clinical Science and Education, Södersjukhuset Karolinska Institutet, Stockholm, Sweden.
    Mårtensson, Lena B.
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Acupuncture with manual and electrical stimulation for labour pain: a longitudinal randomised controlled trial2014In: BMC Complementary and Alternative Medicine, ISSN 1472-6882, E-ISSN 1472-6882, Vol. 14, article id 187Article in journal (Refereed)
    Abstract [en]

    Background: Acupuncture is commonly used to reduce pain during labour despite contradictory results. The aim of this study is to evaluate the effectiveness of acupuncture with manual stimulation and acupuncture with combined manual and electrical stimulation (electro-acupuncture) compared with standard care in reducing labour pain. Our hypothesis was that both acupuncture stimulation techniques were more effective than standard care, and that electro-acupuncture was most effective.

    Methods: A longitudinal randomised controlled trial. The recruitment of participants took place at the admission to the labour ward between November 2008 and October 2011 at two Swedish hospitals . 303 nulliparous women with normal pregnancies were randomised to: 40 minutes of manual acupuncture (MA), electro-acupuncture (EA), or standard care without acupuncture (SC). Primary outcome: labour pain, assessed by Visual Analogue Scale (VAS). Secondary outcomes: relaxation, use of obstetric pain relief during labour and post-partum assessments of labour pain. The sample size calculation was based on the primary outcome and a difference of 15 mm on VAS was regarded as clinically relevant, this gave 101 in each group, including a total of 303 women.

    Results: Mean estimated pain scores on VAS (SC: 69.0, MA: 66.4 and EA: 68.5), adjusted for: treatment, age, education, and time from baseline, with no interactions did not differ between the groups (SC vs MA: mean difference 2.6, 95% confidence interval [CI] -1.7-6.9 and SC vs EA: mean difference 0.6 [95% CI] -3.6-4.8). Fewer number of women in the EA group used epidural analgesia (46%) than women in the MA group (61%) and SC group (70%) (EA vs SC: odds ratio [OR] 0.35; [95% CI] 0.19-0.67).

    Conclusions: Acupuncture does not reduce women’s experience of labour pain, neither with manual stimulation nor with combined manual and electrical stimulation. However, fewer women in the EA group used epidural analgesia thus indicating that the effect of acupuncture with electrical stimulation may be underestimated.

    These findings were obtained in a context with free access to other forms of pain relief.

  • 188.
    Vondracek, Petr
    et al.
    Department of Pediatric Neurology, University Hospital and Masaryk University, Brno, Czech Republic.
    Hermanova, Marketa
    Department of Pathology, University Hospital and Masaryk University, Brno, Czech Republic.
    Vodickova, Kristina
    Department of Pediatric Ophtalmology, University Hospital and Masaryk University, Brno, Czech Republic.
    Fajkusova, Lenka
    Department of Molecular Biology and Gene Therapy, University Hospital and Masaryk University, Brno, Czech Republic.
    Blakely, Emma L.
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    He, Langping
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    Turnbull, Douglass M.
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    Taylor, Robert W.
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK.
    Tajsharghi, Homa
    Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI2007In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 11, no 6, p. 381-384Article in journal (Refereed)
    Abstract [en]

    We report a sporadic case of congenital muscular dystrophy (CMD) in a 13-year-old girl with early manifestation of muscle weakness and hypotonia, severe contractures, bulbar syndrome, progressive external ophtalmoplegia, and white matter changes on magnetic resonance imaging (MRI) of the brain, but no mental defect. Serum creatine kinase (CK) level was normal. Muscle biopsy revealed a dystrophic picture with a prominent inflammatory infiltrate mimicking inflammatory myopathy-typical histological findings in CMD. Immunostaining showed normal expression of merosin, alpha and beta-dystroglycans. Mutation analyses of calpain3, dysferlin, and SEPN1 genes were negative. An electron microscopy revealed the accumulation of abnormally enlarged mitochondria located under the sarcolemma. Measurement of respiratory chain enzyme activities did not reveal any biochemical defect and mitochondrial genetic studies, including sequencing of the entire mitochondrial genome, were unremarkable. Phenotypic presentation of our patient is very unusual and differs considerably from other CMD variants.

  • 189.
    Wallander, Marit
    et al.
    Department of Medicine Huddinge, Karolinska Institute, Stockholm, Sweden / Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Center for Bone Research at the Sahlgrenska Academy, University of Gothenburg, Sweden.
    Axelsson, Kristian F.
    Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Center for Bone Research at the Sahlgrenska Academy, University of Gothenburg, Sweden / Department of Orthopaedic Surgery, Skaraborg Hospital, Skövde, Sweden.
    Lundh, Dan
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Lorentzon, Mattias
    Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Center for Bone Research at the Sahlgrenska Academy, University of Gothenburg, Sweden / Geriatric Medicine, Institute of Medicine, The Sahlgrenska Academy, Sahlgrenska University Hospital, Sweden.
    Patients with prostate cancer and androgen deprivation therapy have increased risk of fractures: a study from the fractures and fall injuries in the elderly cohort (FRAILCO)2019In: Osteoporosis International, ISSN 0937-941X, E-ISSN 1433-2965, Vol. 30, no 1, p. 115-125Article in journal (Refereed)
    Abstract [en]

    Summary: Osteoporosis is a common complication of androgen deprivation therapy (ADT). In this large Swedish cohort study consisting of a total of nearly 180,000 older men, we found that those with prostate cancer and ADT have a significantly increased risk of future osteoporotic fractures. Introduction: Androgen deprivation therapy (ADT) in patients with prostate cancer is associated to increased risk of fractures. In this study, we investigated the relationship between ADT in patients with prostate cancer and the risk of incident fractures and non-skeletal fall injuries both compared to those without ADT and compared to patients without prostate cancer. Methods: We included 179,744 men (79.1 ± 7.9 years (mean ± SD)) from the Swedish registry to which national directories were linked in order to study associations regarding fractures, fall injuries, morbidity, mortality and medications. We identified 159,662 men without prostate cancer, 6954 with prostate cancer and current ADT and 13,128 men with prostate cancer without ADT. During a follow-up of approximately 270,300 patient-years, we identified 10,916 incident fractures including 4860 hip fractures. Results: In multivariable Cox regression analyses and compared to men without prostate cancer, those with prostate cancer and ADT had increased risk of any fracture (HR 95% CI 1.40 (1.28–1.53)), hip fracture (1.38 (1.20–1.58)) and MOF (1.44 (1.28–1.61)) but not of non-skeletal fall injury (1.01 (0.90–1.13)). Patients with prostate cancer without ADT did not have increased risk of any fracture (0.97 (0.90–1.05)), hip fracture (0.95 (0.84–1.07)), MOF (1.01 (0.92–1.12)) and had decreased risk of non-skeletal fall injury (0.84 (0.77–0.92)). Conclusions: Patients with prostate cancer and ADT is a fragile patient group with substantially increased risk of osteoporotic fractures both compared to patients without prostate cancer and compared to those with prostate cancer without ADT. We believe that this must be taken in consideration in all patients with prostate cancer already at the initiation of ADT. 

  • 190.
    Wallander, Märit
    et al.
    Department of Medicine Huddinge, Karolinska Institute, Stockholm, Sweden / Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Center for Bone Research at the Sahlgrenska Academy, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden.
    Axelsson, Kristian
    Department of Orthopaedic Surgery, Skaraborg Hospital, Skövde, Sweden / Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Center for Bone Research at the Sahlgrenska Academy, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden.
    Nilsson, Anna G.
    Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Center for Bone Research at the Sahlgrenska Academy, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden.
    Lundh, Dan
    University of Skövde, School of Bioscience.
    Lorentzon, Mattias
    Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Center for Bone Research at the Sahlgrenska Academy, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden.
    Type 2 Diabetes and Risk of Hip Fractures and Non-Skeletal Fall Injuries in the Elderly - A Study from the Fractures and Fall Injuries in the Elderly Cohort (FRAILCO)2017In: Journal of Bone and Mineral Research, ISSN 0884-0431, E-ISSN 1523-4681, Vol. 32, no 3, p. 449-460Article in journal (Refereed)
    Abstract [en]

    Questions remain about whether the increased risk of fractures in patients with type 2 diabetes (T2DM) is related mainly to increased risk of falling or to bone-specific properties. The primary aim of this study was to investigate the risk of hip fractures and non-skeletal fall injuries in older men and women with and without T2DM. We included 429,313 individuals (80.8 ± 8.2 years (mean ± SD), 58% women) from the Swedish registry "Senior Alert" and linked the data to several nation-wide registers. We identified 79,159 individuals with T2DM (45% with insulin (T2DM-I), 41% with oral antidiabetics (T2DM-O), and 14% with no antidiabetic treatment (T2DM-none)), and 343,603 individuals without diabetes. During a follow-up of approximately 670,000 person-years we identified in total 36,132 fractures (15,572 hip fractures) and 20,019 non-skeletal fall injuries. In multivariable Cox-regression models where the reference group was patients without diabetes and the outcome was hip fracture, T2DM-I was associated with increased risk (adjusted Hazard Ratio (HR) [95% CI] 1.24 [1.16-1.32]), T2DM-O with unaffected risk (1.03 [0.97-1.11]) and T2DM-none with reduced risk (0.88 [0.79-0.98]). Both the diagnosis of T2DM-I (HR 1.22 [1.16-1.29]) and T2DM-O (HR 1.12 [1.06-1.18]) but not T2DM-none (1.07 [0.98-1.16]) predicted non-skeletal fall injury. The same pattern was seen regarding other fractures (any, upper arm, ankle and major osteoporotic fracture) but not for wrist fracture. Subset-analyses revealed that in men, the risk of hip fracture was only increased in those with T2DM-I but in women, both the diagnosis of T2DM-O and T2DM-I were related to increased hip fracture risk. In conclusion, the risk of fractures differs substantially among patients with T2DM and an increased risk of hip fracture was primarily seen in insulin-treated patients, while the risk of non-skeletal fall injury was consistently increased in T2DM with any diabetes medication. This article is protected by copyright. All rights reserved.

  • 191.
    Wark, Landon
    et al.
    Cell Biology, University of Manitoba, CancerCare Manitoba, Winnipeg, Canada / Department of Human Anatomy and Cell Sciences, University of Manitoba, Winnipeg, Canada.
    Klonisch, Thomas
    Department of Human Anatomy and Cell Sciences, University of Manitoba, Winnipeg, Canada / Medical Microbiology and Infectious Diseases, Department of Oncology, University of Calgary, Calgary, Alberta, Canada.
    Awe, Julius
    University of Skövde, School of Health and Education. Cell Biology, University of Manitoba, CancerCare Manitoba, Winnipeg, Canada / Department of Clinical Genetics, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    LeClerc, Cecile
    Cell Biology, University of Manitoba, CancerCare Manitoba, Winnipeg, Canada.
    Dyck, Brandon
    Cell Biology, University of Manitoba, CancerCare Manitoba, Winnipeg, Canada.
    Quon, Harvey
    Department of Oncology, University of Calgary, Calgary, Alberta, Canada / CancerCare Manitoba, Winnipeg, Manitoba, Canada / Tom Baker Cancer Centre, Calgary, Alberta, Canada.
    Mai, Sabine
    Cell Biology, University of Manitoba, CancerCare Manitoba, Winnipeg, Canada / Department of Human Anatomy and Cell Sciences, University of Manitoba, Winnipeg, Canada / Department of Oncology, University of Calgary, Calgary, Alberta, Canada.
    Dynamics of three-dimensional telomere profiles of circulating tumor cells in patients with high-risk prostate cancer who are undergoing androgen deprivation and radiation therapies2017In: Urologic Oncology, ISSN 1078-1439, E-ISSN 1873-2496, Vol. 35, no 3, p. 112.e1-112.e11Article in journal (Refereed)
    Abstract [en]

    Introduction: Accurate assessment and monitoring of the therapeutic efficacy of locally advanced prostate cancer remains a major clinical challenge. Contrary to prostate biopsies, circulating tumor cells (CTCs) are a cellular source repeatedly obtainable by blood sampling and could serve as a surrogate marker for treatment efficacy. In this study, we used size-based filtration to isolate and enumerate CTCs from the blood of 20 patients with high-risk (any one of cT3, Gleason 810, or prostate-specific antigen>20 ng/ml), nonmetastatic, and treatment-naive prostate cancer before and after androgen deprivation therapy (ADT) and radiation therapy (RT).

    Materials and methods: We performed 3D telomere-specific quantitative fluorescence in situ hybridization on isolated CTCs to determine 3D telomere profiles for each patient before and throughout the course of both ADT and RT.

    Results: Based on the distinct 3D telomere signatures of CTC before treatment, patients were divided into 3 groups. ADT and RT resulted in distinct changes in 3D telomere signatures of CTCs, which were unique for each of the 3 patient groups.

    Conclusion: The ability of 3D telomere analysis of CTCs to identify disease heterogeneity among a clinically homogeneous group of patients, which reveals differences in therapeutic responses, provides a new opportunity for better treatment monitoring and management of patients with high-risk prostate cancer. 

  • 192.
    Warrén-Stomberg, Margareta
    et al.
    University of Skövde, Department of Health Sciences.
    Haljamäe, Hengo
    Department of Anaesthesiology and Intensive Care, Sahlgrenska University Hospital, Göteborg.
    Acute pain services2003In: Current Anaesthesia and Critical Care, ISSN 0953-7112, E-ISSN 1532-2033, Vol. 14, no 5-6, p. 211-215Article in journal (Refereed)
    Abstract [en]

    An interdisciplinary acute pain service (APS) team seems the most attractive clinical organization model for postoperative pain management (POPM) to fulfil the intentions of pain management guidelines in practice. The specific knowledge of anaesthesiologists in the use of drugs and techniques for pain alleviation is of specific importance. Therefore, the anaesthetist is usually the team leader and works together with nurses in the postanaesthesia care unit (PACU), acute pain nurses (APN) and surgical ward nurses. A nurse-based anaesthesiologist supervised type of APS seems in several respects to be a suitable model for POPM in clinical practice.

  • 193.
    Wengström, Y.
    et al.
    Department of Neurobiology, Care Science and Society, Division of Nursing, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden / Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
    Bolam, K. A.
    Åstrand Laboratory of Work Physiology, The Swedish School of Sport and Health Sciences, Stockholm, Sweden / School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Australia.
    Mijwel, S.
    Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Sundberg, C. J.
    Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden / Unit for Bioentrepreneurship, Karolinska Institutet, Solna, Sweden.
    Backman, M.
    Department of Neurobiology, Care Science and Society, Division of Nursing, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden / Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
    Browall, Maria
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Norrbom, J.
    Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Rundqvist, H.
    Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden.
    Optitrain: a randomised controlled exercise trial for women with breast cancer undergoing chemotherapy2017In: BMC Cancer, ISSN 1471-2407, E-ISSN 1471-2407, Vol. 17, article id 100Article in journal (Refereed)
    Abstract [en]

    Background: Women with breast cancer undergoing chemotherapy suffer from a range of detrimental disease and treatment related side-effects. Exercise has shown to be able to counter some of these side-effects and improve physical function as well as quality of life. The primary aim of the study is to investigate and compare the effects of two different exercise regimens on the primary outcome cancer-related fatigue and the secondary outcomes muscle strength, function and structure, cardiovascular fitness, systemic inflammation, skeletal muscle gene activity, health related quality of life, pain, disease and treatment-related symptoms in women with breast cancer receiving chemotherapy. The second aim is to examine if any effects are sustained 1, 2, and 5 years following the completion of the intervention and to monitor return to work, recurrence and survival. The third aim of the study is to examine the effect of attendance and adherence rates on the effects of the exercise programme. Methods: This study is a randomised controlled trial including 240 women with breast cancer receiving chemotherapy in Stockholm, Sweden. The participants are randomly allocated to either: group 1: Aerobic training, group 2: Combined resistance and aerobic training, or group 3: usual care (control group). During the 5-year follow-up period, participants in the exercise groups will receive a physical activity prescription. Measurements for endpoints will take place at baseline, after 16 weeks (end of intervention) as well as after 1, 2 and 5 years. Discussion: This randomised controlled trial will generate substantial information regarding the effects of different types of exercise on the health of patients with breast cancer undergoing chemotherapy. We expect that dissemination of the knowledge gained from this study will contribute to developing effective long term strategies to improve the physical and psychosocial health of breast cancer survivors.

  • 194.
    Wennström, Berith
    et al.
    Department of Anaesthesia, Skaraborg Hospital, Kärnsjukhuset, 541 85 Skövde, Sweden / Institute of Health and Care Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Törnhage, Carl-Johan
    Department of Pediatrics, Skaraborg Hospital, Skövde, Sweden.
    Nasic, Salmir
    Centre for Research and Development, Skaraborg Hospital, Skövde, Sweden.
    Hedelin, Hans
    Centre for Research and Development, Skaraborg Hospital, Skövde, Sweden / Department of Urology, Skaraborg Hospital, Skövde, Sweden.
    Bergh, Ingrid
    University of Skövde, School of Life Sciences.
    The perioperative dialogue reduces postoperative stress in children undergoing day surgery as confirmed by salivary cortisol2011In: Pediatric Anaesthesia, ISSN 1155-5645, E-ISSN 1460-9592, Vol. 21, no 10, p. 1058-1065Article in journal (Refereed)
    Abstract [en]

    Aim: To evaluate the efficacy of 'the perioperative dialogue (PD)' by analyzing salivary cortisol, in 5- to 11-year-old children undergoing day surgery. Background: To deal with anxiety prior to investigations and/or procedures, children need to be confident and informed about what is going to happen. Therefore, intervention strategies should be initiated before admission to hospital. Methods and materials: Children (n = 93), 79 boys and 14 girls, scheduled for elective day surgery requiring general anesthesia were randomly recruited into three groups: (i) standard perioperative care (n = 31), (ii) standard perioperative care including preoperative information (n = 31), and (iii) the PD (n = 31). Saliva was sampled for cortisol analysis at specific time points during the pre- and perioperative procedures. Results: The children who received the PD had significantly lower (P = 0.003) salivary cortisol concentrations postoperatively. Moreover, it continuously decreased during the day of surgery compared with the other two groups (P < 0.01). Among the children who received analgesics, the PD group received significantly less morphine (P = 0.014) related to body-weight: the mean dose was 0.1 mg.kg(-1) (n = 9) in the control group vs 0.04 mg.kg(-1) (n = 6) in the PD group. Irrespective of group, there was a positive correlation between the children's morphine consumption and salivary cortisol concentration (r = 0.56; P = 0.038). The W-B scale score was higher in the group that received morphine (median = 3 vs median = 1; P = 0.001). Conclusions: The PD's caring, continuity, and on-going dialogues were associated with low concentrations of salivary cortisol postoperatively and reduced morphine consumption and thus appears to be a valuable complement to standard perioperative care in children undergoing day surgery.

  • 195.
    Widström, Ann-Marie
    et al.
    Division of Reproductive and Perinatal Health Care, Department of Woman's and Children's Health, Karolinska Institutet, Retzius väg 13 A, 171 77 Stockholm, Sweden.
    Lilja, Gunilla
    Division Nursing, Department of Neurobiology, Care Science and Society, Karolinska Institutet, S-17177 Stockholm, Sweden.
    Aaltomaa-Michalias, P.
    Södersjukhuset, Stockholm, Sweden.
    Dahllöf, A.
    Södersjukhuset, Stockholm, Sweden.
    Lintula, M.
    Karolinska University Hospital, Stockholm, Sweden.
    Nissen, Eva
    University of Skövde, School of Life Sciences.
    Newborn behaviour to locate the breast when skin-to-skin: a possible method for enabling early self-regulation2011In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 100, no 1, p. 79-85Article in journal (Refereed)
    Abstract [en]

    Aim: The aim of this study was to provide a more detailed analysis of the infant’s behavioural sequence that begins immediately after birth and terminates with grasping the nipple, suckling and then falling asleep. Method:Twenty-eight full-term infants were videotaped immediately after birth. A video protocol was developed to examine infant behaviours identified from five random videotapes. Results:When birth crying had stopped, the babies showed a short period of relaxation and then successively became alert. They went through an ‘awakening phase’, an ‘active phase’ with movements of limbs, rooting activity and looking at the mother’s face, a ‘crawling phase’ with soliciting sounds, a ‘familiarization phase’ with licking of the areola, and a ‘suckling phase’ and last a ‘sleeping phase’. Five factors related to the time spent to locate the breast: more number of looks at the breast 10–20 min after birth (p < 0.0001); and exposure to meperidine (p = 0.0006) related to increased time. Early start of crawling (p = 0,0040); increased number of ‘soliciting sounds’ (p = 0.0022); and performing hand–breast–mouth movements (p = 0.0105) related to shorter time. Conclusion:  Inborn breastfeeding reflexes were depressed at birth, possibly because of a depressed sensory system. It is hypothesized that when the infant is given the option to peacefully go through the nine behavioural phases birth cry, relaxation, awakening, activity, crawling, resting, familiarization, suckling and sleeping when skin-to-skin with its mother this results in early optimalself-regulation.

  • 196.
    Yang, Lie
    et al.
    Sichuan Univ, W China Hosp, Inst Digest Surg, Chengdu 610064, Sichuan Prov, Peoples R China / Sichuan Univ, W China Hosp, State Key Lab Biotherapy, Chengdu 610064, Sichuan Prov, Peoples R China / Linkoping Univ, Dept Oncol & Clin & Expt Med, SE-58185 Linkoping, Sweden .
    Zhang, Hong
    University of Skövde, The Systems Biology Research Centre. University of Skövde, School of Life Sciences.
    Zhou, Zong-Guang
    Sichuan Univ, W China Hosp, Inst Digest Surg, Chengdu 610064, Sichuan Prov, Peoples R China / Sichuan Univ, W China Hosp, State Key Lab Biotherapy, Chengdu 610064, Sichuan Prov, Peoples R China .
    Yan, Hui
    Sichuan Univ, W China Hosp, Inst Digest Surg, Chengdu 610064, Sichuan Prov, Peoples R China / Sichuan Univ, W China Hosp, State Key Lab Biotherapy, Chengdu 610064, Sichuan Prov, Peoples R China .
    Adell, Gunnar
    Karolinska Univ Hosp, Dept Oncol, Stockholm, Sweden.
    Sun, Xiao-Feng
    Sichuan Univ, W China Hosp, Inst Digest Surg, Chengdu 610064, Sichuan Prov, Peoples R China / Sichuan Univ, W China Hosp, State Key Lab Biotherapy, Chengdu 610064, Sichuan Prov, Peoples R China / Linkoping Univ, Dept Oncol & Clin & Expt Med, SE-58185 Linkoping, Sweden .
    Biological Function and Prognostic Significance of Peroxisome Proliferator-Activated Receptor delta in Rectal Cancer2011In: Clinical Cancer Research, ISSN 1078-0432, E-ISSN 1557-3265, Vol. 17, no 11, p. 3760-3770Article in journal (Refereed)
    Abstract [en]

    Purpose: To investigate the expression significance of PPAR beta/delta in relation to radiotherapy (RT), clinicopathologic, and prognostic variables of rectal cancer patients. Experimental Design: We included 141 primary rectal cancer patients who participated in a Swedish clinical trial of preoperative RT. Tissue microarray samples from the excised rectal cancers and the adjacent or distant normal mucosa and lymph node metastases were stained with PPAR delta antibody. Survival probability was computed by the Kaplan-Meier method and Cox regression model. The proliferation of colon cancer cell lines KM12C, KM12SM, and KM12L4a was assayed after PPAR delta knockdown. Results: PPAR delta was increased from adjacent or distant normal mucosa to primary cancers, whereas it decreased from primary cancers to lymph node metastases. After RT, PPAR delta was increased in normal mucosa, whereas it decreased in primary cancers and lymph node metastases. In primary cancers, the high expression of PPAR delta was related to higher frequency of stage I cases, lower lymph node metastasis rate, and low expression of Ki-67 in the unirradiated cases, and related to favorable survival in the cases either with or without RT. The proliferation of the KM12C, KM12SM, or KM12L4a cells was significantly accelerated after PPAR delta knockdown. Conclusions: RT decreases the PPAR delta expression in primary rectal cancers and lymph node metastases. PPAR delta is related to the early development of rectal cancer and inhibits the proliferation of colorectal cancer cells. Increase of PPAR delta predicts favorable survival in the rectal cancer patients either with or without preoperative RT. Clin Cancer Res; 17(11); 3760-70. (C)2011 AACR.

  • 197.
    Zare, Zahra
    et al.
    Department of Statistics and Epidemiology, Faculty of Health, Tabriz University of Medical Sciences, Iran.
    Sadeghi-Bazargani, Homayoun
    Road Traffic Injury Research Center, Tabriz University of Medical Sciences, Iran.
    Ranjbar, Fatemeh
    Research Center of Psychiatry and Behavioral sciences, Tabriz University of Medical Sciences, Tabriz, Iran.
    Stark Ekman, Diana
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Farahbakhsh, Mostafa
    Health Services Management Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
    Maghsoudi, Hemmat
    Department of Surgery, Sina Burn Center, Tabriz University of Medical Sciences, Iran.
    Ekman, Robert
    Department of Architecture and Civil Engineering, Chalmers University of Technology, Gothenburg, Sweden.
    Nasiri, Farideh
    Sociologist at Tabriz University of Medical Sciences, Iran.
    Psychometric Properties of a New Instrument for Assessing Irrational Thoughts in Burn Victims (Scale of Irrational Thoughts After Burn Injuries)2017In: Journal of Burn Care & Research, ISSN 1559-047X, E-ISSN 1559-0488, Vol. 38, no 5, p. e834-e841Article in journal (Refereed)
    Abstract [en]

    The objective of this study was to develop and evaluate a scale for assessing irrational thoughts among burned patients. The present study was mixed (qualitative-methodologic) which was performed in several stages such as investigating similar or related scales, interviewing with patients and psychologists. Content validity was calculated by modified KAPPA basis on relevance and clarity. The reliability of the scale was measured using internal consistency and the test-retest method. To determine the construct validity, exploratory factor analysis approach using maximum likelihood extraction with varimax rotation was conducted. A total of 329 burned patients were recruited from Tehran, Tabriz, and Kermanshah provinces of Iran. Modified kappa scores were 0.80 and 0.91 for relevance and clarity of the items included in scale. The Cronbach alpha for overall scale, subscale 1, and subscale 2 were 0.89, 0.88, and 0.8, respectively. Test-retest reliability was also acceptable (intraclass correlation coefficient = 0.80). The best solution from the maximum likelihood analysis of the 39 items of the scale revealed two factors corresponding to the two subscales with 14 items that subscale 1 (self-acceptance) consisted of 10 statements accounting for 60% of the variance (eigenvalue = 5.04) and subscale 2 (distastefulness and pity) consisted of four statements accounting for 40% of the variance (eigenvalue = 1.53). The scale reflects acceptable levels of validity and reliability in assessing the irrational thoughts among Iranian patients. Moreover, the testing populations of both patients with burned faces and patients with other burned body parts indicates that the scale may also be applicable for patients' burn disfigurements on any part of their bodies.

  • 198.
    Zare, Zahra
    et al.
    Tabriz University of Medical Sciences, Tabriz, Iran.
    Sadeghi-Bazargani, Homayoun
    Tabriz University of Medical Sciences, Tabriz, Iran.
    Stark Ekman, Diana
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Ranjbar, Fatemeh
    Tabriz University of Medical Sciences, Tabriz, Iran.
    Ekman, Robert
    Chalmers University of Technology, Göteborg, Sweden.
    Farahbakhsh, Mostafa
    Tabriz University of Medical Sciences, Tabriz, Iran.
    Maghsoudi, Hemmat
    Tabriz University of Medical Sciences, Tabriz, Iran.
    Cognitive Distortions as Trauma-Specific Irrational Beliefs Among Burn Patients2019In: Journal of Burn Care & Research, ISSN 1559-047X, E-ISSN 1559-0488, Vol. 40, no 3, p. 361-367Article in journal (Refereed)
    Abstract [en]

    Burn injuries are most certainly stressful events, particularly when permanent disfigurement is a result. This situation can lead to the onset of irrational beliefs which can in turn lead to long-term psychological problems such as depression, anxiety, shame, guilt, posttraumatic stress, etc. The objective of this study is to explore the irrational beliefs among burn patients and its correlates in an Iranian sample. This cross-sectional study included 329 patients who had experienced disfigurement, as result of burn injuries. In order to assess irrational beliefs, a Scale for Irrational Thoughts after Burning was used. To identify correlated variables with irrational beliefs, both bivariate and multivariate analysis methods were conducted. In multivariate linear regression, forward strategy was used for building the model. The results of bivariate analysis showed that the location of the burn on bodies (body parts generally exposed in social environment or parts culturally perceived as sensitive areas of body), marital status, urbanities, age group, geographical areas, etiology of burning, and intent of injury had significant relationships with irrational beliefs (P < .05). Using forward linear regression, gender, marital status, geographical areas, etiology of burning, body burn by location (body parts generally exposed in social environment or parts culturally perceived as sensitive areas of body), and intent of injury had significant correlation with irrational beliefs. The models predicted 15.5% (P < .001) of irrational beliefs. Considering to irrational beliefs and development of facilities for screening is necessary. Moreover, consultation with mental health experts after burn injuries is highly recommended. 

  • 199.
    Zhang, Hong
    et al.
    University of Skövde, School of Life Sciences. University of Skövde, The Systems Biology Research Centre.
    Wang, Da-Wei
    University of Skövde, School of Life Sciences. University of Skövde, The Systems Biology Research Centre. Department of Stomatology, The Third Hospital of Hebei Medical University, Hebei, China.
    Adell, Gunnar
    Department of Oncology, Karolinska University Hospital, Karolinska, Sweden.
    Sun, Xiao-Feng
    Division of Oncology, Department of Clinical and Experimental Medicine, Faculty of Heath Science, Linköping University, Sweden .
    WRAP53 is an independent prognostic factor in rectal cancer- a study of Swedish clinical trial of preoperative radiotherapy in rectal cancer patients2012In: BMC Cancer, ISSN 1471-2407, E-ISSN 1471-2407, Vol. 12, p. 294-Article in journal (Refereed)
    Abstract [en]

    Background: Expression of WRAP53 protein has oncogenic properties and it is up regulated in several types of tumors. Methods: We examined expression of WRAP53 protein in rectal cancers and analyzed its relationship to the response to preoperative radiotherapy and patient survival. The WRAP53 protein was examined by immunohistochemistry in normal mucosa, primary tumors and lymph node metastases from 143 rectal cancer patients participated in a Swedish clinical trial of preoperative radiotherapy. Results: Frequency of WRAP53 protein expression was increased in primary rectal cancer compared to the normal mucosa (p < 0.05). In non-radiotherapy group positive WRAP53 in primary tumors (p = 0.03, RR, 3.73, 95% CI, 1.13-11.89) or metastases (p = 0.01, RR, 4.11, 95% CI, 1.25-13.14), was associated with poor prognosis independently of stages and differentiations. In radiotherapy group, positive WRAP53 in the metastasis correlated with better survival (p = 0.04). An interaction analysis showed that the correlations of WRAP53 with the prognostic significance with and without radiotherapy in the metastasis differed (p = 0.01). In the radiotherapy group, expression of WRAP53 in metastases gave a better outcome (p = 0.02, RR, 0.32, 95% CI, 0.13-0.84), and an interaction analysis showed significance between the two groups (p = 0.01). Conclusion: WRAP53 may be a new biomarker used to predict prognosis and to select suitable patients for preoperative radiotherapy.

  • 200.
    Åberg, Malin
    et al.
    University of Skövde, School of Health and Education.
    Joelsson, Josefine
    University of Skövde, School of Health and Education.
    Kvinnliga patienters upplevelse under pågående behandling av bröstcancer.: En kvalitativ studie av bloggar2016Independent thesis Basic level (university diploma), 10 credits / 15 HE creditsStudent thesis
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