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  • 151.
    Sina, Elida
    et al.
    Leibniz Institute for Prevention Research and Epidemiology—BIPS, Bremen, Germany.
    Buck, Christoph
    Leibniz Institute for Prevention Research and Epidemiology—BIPS, Bremen, Germany.
    Jilani, Hannah
    Leibniz Institute for Prevention Research and Epidemiology—BIPS, Bremen, Germany / Institute for Public Health and Nursing Research—IPP, University of Bremen, Germany.
    Tornaritis, Michael
    Research and Education Institute of Child Health, Lefcosia, Cyprus.
    Veidebaum, Toomas
    Department of Chronic Diseases, National Institute for Health Development, Tallin, Estonia.
    Russo, Paola
    Institute of Food Sciences, National Research Council, Avellino, Italy.
    Moreno, Luis A.
    GENUD (Growth, Exercise, Nutrition and Development) Research Group, Instituto Agroalimentario de Aragón (IA2), Instituto de Investigación Sanitaria Aragón (IIS Aragón), Centro de Investigación Biomédica en Red Fisiopatología de la Obesidad y Nutrición (CIBERObn), University of Zaragoza, Spain.
    Molnar, Denes
    Department of Pediatrics, Medical School, University of Pécs, Hungary.
    Eiben, Gabriele
    University of Skövde, School of Health and Education. University of Skövde, Health and Education.
    Marild, Staffan
    Department. of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Sweden.
    Pala, Valeria
    Department of Preventive and Predictive Medicine, Fondazione IRCCS, Istituto Nazionale dei Tumori, Milan, Italy.
    Ahrens, Wolfgang
    Leibniz Institute for Prevention Research and Epidemiology—BIPS, Bremen, Germany / Faculty of Mathematics/Computer Science, University of Bremen, Germany.
    Hebestreit, Antje
    Leibniz Institute for Prevention Research and Epidemiology—BIPS, Bremen, Germany.
    Association of infant feeding patterns with taste preferences in European children and adolescents: A retrospective latent profile analysis2019In: Nutrients, ISSN 2072-6643, E-ISSN 2072-6643, Vol. 11, no 5, p. 1-16, article id 1040Article in journal (Refereed)
    Abstract [en]

    The aim was to investigate associations between the duration of infant feeding practices (FP) and taste preferences (TP) in European children and adolescents. A total of 5526 children (6-16 years old) of the I.Family study completed a Food and Beverage Preference Questionnaire to measure their preferences for sweet, fatty and bitter tastes. Mothers retrospectively reported the FPs duration in months: exclusive breastfeeding (EBF), exclusive formula milk feeding (EFMF), combined breastfeeding (BF&FMF) and the age at the introduction of complementary foods (CF). Using logistic regression analyses and latent class analysis (latent profiles of FP and CF were identified), we explored associations between profiles and TP, adjusting for various covariates, including the Healthy Diet Adherence Score (HDAS). A total of 48% of children had short durations of EBF (≤4 months) and BF&FMF (≤6 months) and were introduced to CF early (<6 months). No significant relationship was observed between the single FPs and TP, even when considering common profiles of FP. HDAS was inversely associated with sweet and fatty TP, but positively with bitter TP. Contrary to our hypotheses, we did not observe associations between FP and children’s TP later in life. Further studies with higher FP variation and longitudinal design are needed to investigate the causal associations between infant FP and taste preferences later in life. © 2019 by the authors. Licensee MDPI, Basel, Switzerland.

  • 152.
    Singh, Neha
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    Breakthrough insight into HPV infection as an emerging risk factor in prostate cancer2015In: Onkologi i Sverige, ISSN 1653-1582, no 3, p. 76-77Article in journal (Other (popular science, discussion, etc.))
  • 153.
    Singh, Neha
    et al.
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Hussain, Showket
    Division of Molecular Genetics and Biochemistry, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Bharadwaj, Mausumi
    Division of Molecular Genetics and Biochemistry, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Kakkar, Nandita
    Department of Urology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Singh, S. K.
    Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Sobti, Ranbir C.
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Overexpression of signal transducer and activator of transcription (STAT-3 and STAT-5) transcription factors and alteration of suppressor of cytokine signaling (SOCS-1) protein in prostate cancer2012In: Journal of Receptor and Signal Transduction Research, ISSN 1079-9893, E-ISSN 1532-4281, Vol. 32, no 6, p. 321-7Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Prostate cancer is a leading cause of mortality in men worldwide especially in developing countries like India. The molecular mechanisms of the oncogenic signaling pathway(s) that are involved in prostate carcinogenesis play a crucial role in disease progression and persistence. There is an important role of signal transducer and activator of transcriptions (STATs) particularly STAT-3 and STAT-5 and its negative regulator suppressor of cytokine signaling-1 (SOCS-1).

    METHODS: In the present study, the expression and localization of STAT and SOCS-1 proteins in prostate cancer by immunohistochemistry in a total of 150 formalin-fixed, paraffin-embedded human prostate tissues of different grade obtained by radical prostatectomies or transurethral resection.

    RESULTS: A significantly strong STAT-3 expression pattern in 68% (65/95) prostate cancer cases as compared to 12% (5/55) in benign prostatic hyperplasia (BPH) controls (P < 0.001) was observed. Interestingly the SOCS-1 expression was found to be significantly elevated in prostate cancer cases (P < 0.001).

    CONCLUSIONS: The present study demonstrates overexpression of STAT-3 and STAT-5 proteins and a contrasting role of SOCS-1 in prostate cancer. These results suggest a critical association between altered expression of STAT-3 and STAT-5 with SOCS-1 and indicate its potential role as a negative regulator independent of JAK-STAT pathway in tumorigenic transformation of prostate tissue. The results of the present report focuses on the fundamental differences in major oncogenic signaling cascades between benign and malignant form of prostate tissue that plays a crucial role in prostate cancer biology.

  • 154.
    Singh, Neha
    et al.
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre. Department of Biotechnology, Panjab University, Chandigarh, India.
    Hussain, Showket
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology (ICMR), NOIDA, India.
    Kakkar, Nandita
    Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Singh, Shrawan K.
    Department of Urology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Sobti, Ranbir C.
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Bharadwaj, Mausumi
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology (ICMR), NOIDA, India.
    Implication of high risk Human papillomavirus HR-HPV infection in prostate cancer in Indian population- A pioneering case-control analysis2015In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 5, article id 7822Article in journal (Refereed)
    Abstract [en]

    Prostate cancer is the second most common cancer with sexual history as a consistent risk factor. This is the pioneering study that evaluates the frequency of HPV infection in prostate cancer in India. Ninety five (95) histopathologically confirmed cancer and fifty five (55) BPH from Indian population were analyzed for HPV infection using a pair of consensus sequence primer followed by type specific PCRs for both high-risk and low-risk HPV types. The data demonstrate HPV infection in 41% of prostate tumor biopsies and 20% in BPH. Subsequent PCR- based HPV typing using type - specific primers revealed 32% were infected with HPV type 16 whereas 6% were found to be positive for HPV type 18, while in BPH controls only 5% of the BPH controls were infected with HPV 16 and this difference was highly significant (p = 0.0004). Significant proportion of HPV infected (74%) cases belonged to stage III and IV (p < 0.001) with a high Gleason score ≥8 (p = 0.003). The study represents for the first time the incidence of HPV infection in prostate cancer in Indian population and strengthens the hypothesis that HPV infection could be one of the co factor associated with progression of prostate cancer.

  • 155.
    Singh, Neha
    et al.
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre. Department of Biotechnology, Panjab University, Chandigarh, India.
    Hussain, Showket
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Sharma, Upma
    Division of Molecular Genetics and Biochemistry, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Suri, Vanita
    Department of Obstetrics and Gynecology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Nijhawan, Raje
    Department of Cytology & Gynae. Pathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Bharadwaj, Mausumi
    Division of Molecular Genetics and Biochemistry, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Sobti, R. C.
    Department of Biotechnology, Panjab University, Chandigarh, India / Vice Chancellor BBA (Central) University, Lucknow, India.
    The protective role of the -1306C>T functional polymorphism in matrix metalloproteinase-2 gene is associated with cervical cancer: implication of human papillomavirus infection2016In: Tumor Biology, ISSN 1010-4283, E-ISSN 1423-0380, Vol. 37, no 4, p. 5295-5303Article in journal (Refereed)
  • 156.
    Singh, Neha
    et al.
    Panjab University, Chandigarh, India.
    Hussain, Showket
    Division of Molecular Genetics, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Suri, Vanita
    Department of Obstetrics and Gynaecology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Bharadwaj, Mausumi
    Division of Molecular Genetics, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Das, B. C.
    Ambedkar Centre for Biomedical Research, Delhi University, New Delhi, India.
    Sobti, R. C.
    Panjab University, Chandigarh, India.
    Abstract 2719: Aberrant expression of transcription factors STAT-3 and STAT-5 and their epigenetic control by SOCS-1 gene: The STAT signaling crosstalk in HPV coupled cervical carcinogenesis2011In: Cancer Research, ISSN 0008-5472, E-ISSN 1538-7445, Vol. 71, no 8 Suppl, article id Abstract 2719Article in journal (Refereed)
  • 157.
    Singh, Neha
    et al.
    Department of Biotechnology, Panjab University, Chandigarh, India / Centre for Stem Cell and Tissue Engineering, Panjab University, Chandigarh, India.
    Sobti, R. C.
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Suri, Vanita
    Department of Obstetrics and Gynecology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Nijhawan, Raje
    Department of Cytology and Gynae Pathology, PGIMER, Sector-12, Chandigarh, India.
    Sharma, Shweta
    Division of Molecular Genetics and Biochemistry, Institute of Cytology and Preventive Oncology (ICMR), NOIDA, India.
    Das, B. C.
    Dr. B.R. Ambedkar Research Centre for Biomedical Research (ACBR), University of Delhi (North Campus), Delhi, 110 007, INDIA.
    Bharadwaj, Mausumi
    Division of Molecular Genetics and Biochemistry, Institute of Cytology and Preventive Oncology (ICMR), NOIDA, India.
    Hussain, Showket
    Division of Molecular Genetics and Biochemistry, Institute of Cytology and Preventive Oncology (ICMR), NOIDA, India.
    Downregulation of tumor suppressor gene PML in uterine cervical carcinogenesis: impact of human papillomavirus infection (HPV)2013In: Gynecologic Oncology, ISSN 0090-8258, E-ISSN 1095-6859, Vol. 128, no 3, p. 420-6Article in journal (Refereed)
    Abstract [en]

    OBJECTIVES: Cervical cancer is a leading gynecological cancer in Indian women and is caused due to infection with high risk human pappilloma virus (HR-HPV) 16 and 18. It has been well documented that PML (promyelocytic leukemia) enhances viral infectivity and plays a crucial role in antiviral response mechanisms. The aim of the present study was to evaluate the role of PML gene with context to HPV infection in cervical carcinogenesis.

    METHODS: The expression pattern of PML was analyzed by western blotting and immunohistochemistry in a total of 170 fresh surgically resected cervical tissue specimens comprising precancer (n=12), cancer (n=118) and normal controls (n=40) recruited from PGIMER, Chandigarh, India. HPV status was analyzed by L1 consensus PCR followed by type specific PCR for HR-HPV types 16 and 18 and low risk types 6 and 11.

    RESULTS: A significant downregulation of PML protein was observed in the majority of cervical cancer and precancer cases 68% (89/130) compared to normal controls. The loss of expression pattern of PML gene was significantly increased with severity of disease both clinically and pathologically (p<0.001). HPV infection was detected in the majority of cancer cases 96% (113/118) and in 83% (10/12) of precancer lesions whereas no infection could be detected in normal controls. Interestingly, all the 68% (89/130) cervical cancer cases that showed downregulation of PML were HPV infected (p=0.0001).

    CONCLUSION: Taken together, these observations suggest that the downregulation of PML gene and its synergism with HPV infection may play an important role and may serve as a new marker for early diagnosis and therapeutic intervention for cervical carcinogenesis.

  • 158.
    Skalkidou, Alkistis
    et al.
    Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
    Sundström Poromaa, Inger
    Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
    Iliadis, Stavros I.
    Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
    Huizink, Anja
    University of Skövde, School of Health and Education. University of Skövde, Health and Education. Section of Clinical Developmental Psychology, Vrije Universiteit Amsterdam, Netherlands.
    Hellgren, Charlotte
    Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.
    Freyhult, Eva
    Department of Medical Science, National Bioinformatics Infrastructure Sweden, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Comasco, Erika
    Department of Neuroscience, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
    Stress-related genetic polymorphisms in association with peripartum depression symptoms and stress hormones: A longitudinal population-based study2019In: Psychoneuroendocrinology, ISSN 0306-4530, E-ISSN 1873-3360, Vol. 103, p. 296-305Article in journal (Refereed)
    Abstract [en]

    Individual differences in the response of the stress system to hormonal changes during pregnancy and the postpartum period render some women susceptible to developing depression. The present study sought to investigate peripartum depression and stress hormones in relation to stress-related genotypes. The Edinburgh Postnatal Depression Scale was used to assess peripartum depressive symptoms in a sample of 1629 women, followed from pregnancy week seventeen to six months postpartum. Genotypes of ninety-four haplotype-tag single nucleotide polymorphisms (SNPs) in sixteen genes of the hypothalamus-pituitary-adrenal axis pathway were analyzed and data on psychosocial and demographic factors was collected. In sub-studies, salivary cortisol awakening response in gestational week 35–39, salivary evening cortisol levels in gestational week 36 and postpartum week 6, and blood cortisol and cortisone levels in gestational week 35–39 were analyzed. SNP-set kernel association tests were performed at the gene-level, considering psychosocial and demographic factors, followed by post-hoc analyses of SNPs of significant genes. Statistically significant findings at the 0.05 p-level included SNPs in the hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1) gene in relation to self-rated depression scores in postpartum week six among all participants, and serpin family A member 6 (SERPINA6) gene at the same time-point among women with de novo onset of postpartum depression. SNPs in these genes also associated with stress hormone levels during pregnancy. The present study adds knowledge to the neurobiological basis of peripartum depression by systematically assessing SNPs in stress-regulatory genes and stress-hormone levels in a population-based sample of women. © 2019 Elsevier Ltd

  • 159.
    Skillbäck, Tobias
    et al.
    Department of Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden / Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
    Delsing, Louise
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre. Department of Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
    Synnergren, Jane
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre.
    Mattsson, Niklas
    Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden / Department of Neurology, Skåne University Hospital, Lund, Sweden.
    Janelidze, Shorena
    Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden.
    Nägga, Katarina
    Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden.
    Kilander, Lena
    Department of Public Health and Caring Sciences/Geriatrics, Uppsala University, Uppsala, Sweden.
    Hicks, Ryan
    Discovery Sciences, IMED Biotech Unit, AstraZeneca, Mölndal, Sweden.
    Wimo, Anders
    Centre for Research and Development, Uppsala University/County Council of Gävleborg, Gävle, Sweden / Division for Neurogeriatrics, Department of Neurobiology, Care Sciences, and Society (NVS), Center for Alzheimer Research, Karolinska Institutet, Huddinge, Sweden.
    Winblad, Bengt
    Division for Neurogeriatrics, Department of Neurobiology, Care Sciences, and Society (NVS), Center for Alzheimer Research, Karolinska Institutet, Huddinge, Sweden / Department Geriatric Medicine, Karolinska University Hospital, Huddinge, Sweden.
    Hansson, Oskar
    Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden / Department of Neurology, Skåne University Hospital, Lund, Sweden.
    Blennow, Kaj
    Department of Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden / Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
    Eriksdotter, Maria
    Department Geriatric Medicine, Karolinska University Hospital, Huddinge, Sweden / Division of Clinical Geriatrics, Department of Neurobiology, Care Sciences, and Society (NVS), Center for Alzheimer Research, Karolinska Institutet, Huddinge, Sweden.
    Zetterberg, Henrik
    Department of Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden / Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden / Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom / UK Dementia Research Institute at UCL, London, United Kingdom.
    CSF/serum albumin ratio in dementias: a cross-sectional study on 1861 patients2017In: Neurobiology of Aging, ISSN 0197-4580, E-ISSN 1558-1497, Vol. 59, p. 1-9Article in journal (Refereed)
    Abstract [en]

    A connection between dementias and blood-brain barrier (BBB) dysfunction has been suggested, but previous studies have yielded conflicting results. We examined cerebrospinal fluid (CSF)/serum albumin ratio in a large cohort of patients diagnosed with Alzheimer's disease (AD, early onset [EAD, n = 130], late onset AD [LAD, n = 666]), vascular dementia (VaD, n = 255), mixed AD and VaD (MIX, n = 362), Lewy body dementia (DLB, n = 50), frontotemporal dementia (FTD, n = 56), Parkinson's disease dementia (PDD, n = 23), other dementias (other, n = 48), and dementia not otherwise specified (NOS, n = 271). We compared CSF/serum albumin ratio to 2 healthy control groups (n = 292, n = 20), between dementia diagnoses, and tested biomarker associations. Patients in DLB, LAD, VaD, MIX, other, and NOS groups had higher CSF/serum albumin ratio than controls. CSF/serum albumin ratio correlated with CSF neurofilament light in LAD, MIX, VaD, and other groups but not with AD biomarkers. Our data show that BBB leakage is common in dementias. The lack of association between CSF/serum albumin ratio and AD biomarkers suggests that BBB dysfunction is not inherent to AD but might represent concomitant cerebrovascular pathology.

  • 160.
    Sobti, R. C.
    et al.
    Department of Biotechnology, Panjab University, Chandigarh 160014, India.
    Singh, Neha
    Department of Biotechnology, Panjab University, Chandigarh 160014, India.
    Hussain, Showket
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Suri, Vanita
    Department of Obstetrics and Gynaecology, Post Graduate Institute of Medical Education and Research, Chandigarh 160014, India.
    Bharti, A. C.
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology (ICMR), Noida, India.
    Das, B. C.
    Division of Molecular Oncology, Institute of Cytology and Preventive Oncology (ICMR), Noida, India / Ambedkar Centre for Biomedical Research, Delhi University, Delhi, India.
    Overexpression of STAT3 in HPV-mediated cervical cancer in a north Indian population2009In: Molecular and Cellular Biochemistry, ISSN 0300-8177, E-ISSN 1573-4919, Vol. 330, no 1-2, p. 193-9Article in journal (Refereed)
    Abstract [en]

    The constitutively activated STAT family members, particularly STAT3, have been shown to possess transforming properties, and are strongly correlated with tumor development and progression. STAT3 transmits signals from many cytokines and growth factors to target genes in the nucleus through the Jak/Stat signaling pathway. HPV is the main etiological factor in the development of cervical cancer. In the current study, the expression of STAT3 was analyzed in various stages of HPV-mediated cervical carcinogenesis. Tissue biopsies from 100 patients with cervical cancer of different stages and normal tissues from patients undergoing hysterectomy were selected for studying the HPV status and STAT3 expression. HPV status of each corresponding biopsy was analyzed by PCR and typing. The mRNA expression was analyzed by reverse-transcriptase polymerase chain reaction (RT-PCR). HPV infection was detected in majority of cases: 75% (9/12) in precancer, 85% (34/40) stage I & II, and 95% (36/38) in stage III & IV of cervical cancer cases by L1 PCR. Further sub typing revealed HPV16 in 100% (9/9) of L1 positives in precancerous & 90% (63/70) in different stages of cancer. Significant level of STAT3 mRNA expression was predominantly found in cervical cancer cases as compared to normal controls (P = 0.001). We also found a significant correlation of STAT3 expression in cases infected with HPV (P = 0.001). Our results indicate a potentially interactive effect between HPV 16/18 and transcriptional activation of STAT3 gene in cervical carcinogenesis. To our knowledge, this is the first such study to be reported from India. Further investigations are needed to determine the influence of STAT3 expression on cervical carcinogenesis and its possible interaction with HPV infection status.

  • 161.
    Sobti, R. C.
    et al.
    Department of Biotechnology, Panjab University, Sector-14, Chandigarh, India.
    Singh, Neha
    Department of Biotechnology, Panjab University, Sector-14, Chandigarh, India.
    Hussain, Showket
    Division of Molecular Genetics and Biochemistry, Institute of Cytology & Preventive Oncology (ICMR), I-7, Sector-39, Noida, India.
    Suri, Vanita
    Department of Gynaecology and Obstetrics, PGIMER, Sector-12, Chandigarh, India.
    Nijhawan, Raje
    Department of Cytology & Gynae Pathology, PGIMER, Sector-12, Chandigarh, India.
    Bharti, A. C.
    Division of Molecular Oncology, Institute of Cytology & Preventive Oncology (ICMR), I-7, Sector-39, Noida, India.
    Bharadwaj, Mausumi
    Division of Molecular Genetics and Biochemistry, Institute of Cytology & Preventive Oncology (ICMR), I-7, Sector-39, Noida, India.
    Das, B. C.
    Dr. B.R. Ambedkar Research Centre for Biomedical Research (ACBR), University of Delhi, (North Campus), Delhi, India.
    Aberrant promoter methylation and loss of suppressor of cytokine signalling-1 gene expression in the development of uterine cervical carcinogenesis2011In: Cellular Oncology, ISSN 2211-3428, E-ISSN 2211-3436, Vol. 34, no 6, p. 533-43Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Cervical cancer is a leading cause of cancer related deaths in women worldwide caused due to infection of high-risk human papillomaviruses. As JAK/STAT signalling pathway has been shown to play an important role during carcinogenesis, we studied the role of silencing of Suppressor of Cytokine Signalling-1 (SOCS-1) gene, a negative regulator of JAK/STAT pathway in cervical cancer.

    METHODS: The expression pattern of SOCS-1 mRNA and protein was analyzed in different stages of cervical tumor biopsies while normal cervical tissues served as controls. RT-PCR, immunohistochemistry and methylation-specific PCR (MSP) were performed to assess the expression pattern and promoter methylation of SOCS-1 gene in a total of 120 fresh surgically resected cervical tissue specimens comprising precancer (n = 12), cancer (n = 78) and normal controls (n = 30).

    RESULTS: Compared with expression of SOCS-1 in normal tissues, 64% of the tumor tissues expressed either undetectable or reduced expression. Aberrant promoter methylation of SOCS-1 was found in 61% of the cervical tumor tissues. SOCS-1 expression and methylation were significantly associated with severity of the disease (p < 0.01).

    CONCLUSION: We demonstrate for the first time the transcriptional inactivation of SOCS-1 gene due to hypermethylation and synergism with HPV infection which may play an important role in cervical carcinoma.

  • 162.
    Sobti, Ranbir C.
    et al.
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Singh, Neha
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Hussain, Showket
    Division of Molecular Genetics and Biochemistry, Institute of Cytology & Preventive Oncology (ICMR), Noida, India.
    Suri, Vanita
    Department of Gynaecology and Obstetrics, PGIMER, Chandigarh, India.
    Bharadwaj, Mausumi
    Division of Molecular Genetics and Biochemistry, Institute of Cytology & Preventive Oncology (ICMR), Noida, India.
    Das, Bhudev C.
    Dr. B.R. Ambedkar Research Centre for Biomedical Research (ACBR), University of Delhi, India.
    Deregulation of STAT-5 isoforms in the development of HPV-mediated cervical carcinogenesis2010In: Journal of Receptor and Signal Transduction Research, ISSN 1079-9893, E-ISSN 1532-4281, Vol. 30, no 3, p. 178-188Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: Cervical cancer is the second most common cancer and is leading cause of cancer related deaths in women worldwide. High Risk-Human papillomavirus (HPV) types play an important role in cervical carcinogenesis. Considering the important role of signal transducer and activator of transcription-5 (STAT-5), an important member of JAK/STAT family which plays a crucial role in various cancers and HPV as a key mediator in the development of cervical carcinogenesis, the purpose of the current study was to examine the possible relationship between HPV infection and expression of STAT-5 gene isoforms in cervical cancer.

    METHODS: A total of 120 fresh cervical tissue specimens comprising precancer (n = 12), cancer (n = 78) and normal controls (n = 30) were analyzed for HPV infection and expression pattern of STAT-5 mRNA (both isoforms STAT-5a and STAT-5b) and protein in different stages of cervical carcinoma biopsies by reverse-transcriptase-PCR, western blotting and immunohistochemistry.

    RESULTS: A significantly increased expression of STAT-5 was detected in most of the cervical tumors (P < 0.001), whereas it was almost undetectable in normal controls. Also the study of relative contribution of STAT-5 isoforms revealed a higher expression pattern of STAT-5b and was associated with severity of the disease. On the contrary, STAT-5a was found to be significantly downregulated in cervical tumor tissues (P < 0.001). HPV infection was found in 90% of the cervical cancer cases and was significantly associated with STAT-5 overexpression (P = 0.001).

    CONCLUSIONS: We observed for the first time the differential expression pattern of STAT-5 isoforms in cervical cancer and that STAT-5 may play an important role in the progression of HPV-mediated cervical cancer.

  • 163.
    Sobti, Ranbir Chander
    et al.
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Askari, Marjan
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Nikbakht, Mohsen
    Department of Experimental Medicine and Biotechnology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Singh, Neha
    Department of Biotechnology, Panjab University, Chandigarh, India.
    Sharma, Suresh C.
    Department of Radiotherapy and Oncology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
    Abitew, Abayneh Munshea
    Department of Zoology, Punjab University, Chandigarh, India.
    Genetic variants of EGFR (142285G>A) and ESR1 (2014G>A) gene polymorphisms and risk of breast cancer2012In: Molecular and Cellular Biochemistry, ISSN 0300-8177, E-ISSN 1573-4919, Vol. 369, no 1-2, p. 217-25Article in journal (Refereed)
    Abstract [en]

    Breast cancer is one of the most common cancers in women worldwide. The estrogen receptor alpha (ESR1) and epidermal growth factor receptor (EGFR) have been known to play a vital role in development and progression of breast cancer. The aim of the present study was to determine the relationship, if any, between genetic polymorphism in (ESR1) 2014G>A (T594T) and (EGFR) 142285G>A (R521K) with risk of breast cancer and the prognosis in a heterogeneous North Indian population that is known for its diverse ethnicity. A case-control study in a total of 300 individuals comprising of 150 breast cancer patients and 150 normal controls was performed. PCR-RFLP was employed for genotyping. The G/A heterozygous genotype EGFR R521K, was slightly higher in cases (56.7 %) than in controls (48.3 %) (P = 0.20). The results indicated that EGFR polymorphism does not show any significant association with breast cancer in this population. On the other hand, the mutant A/A genotype ESR1 codon 594, showed a 6.4-folds risk for breast cancer and this association was highly significant (P = 0.00) as compared to wild GG genotype, the heterozygous G/A genotype also showed a significant association with disease (P = 0.00, OR = 2.03). In addition, the frequency of A allele was also higher in cases (36 %) than in controls (19 %) and a highly significant difference was observed with wild G allele (63.3 % in cases and 6.6 % in controls). This clearly indicates that there appears to be an influence of ESR1 codon 594 genotypes on genetic susceptibility to breast cancer. Further a significantly higher risk was observed in individuals who had diabetes {OR = 3.04 (1.68-5.50), P = 0.00} and females with ESR polymorphism in pre-menopause patients that had undergone menopause above the age of 50 years {OR = 3.58 (1.86-6.90), P < 0.05}. The different ethnic backgrounds and geographical locations have complimented the present genotypic analysis and have highlighted the influence of ethnicity, race and geographic location in genetic predisposition to breast cancer.

  • 164.
    Sobti, Ranbir Chander
    et al.
    Department of Biotechnology, Panjab University, 160014 Chandigarh, India.
    Berhane, Nega
    Department of Biotechnology, University of Gondar, Gondar, Ethiopia.
    Melese, Shiferaw
    Department of Mathematics, University of Gondar, Gondar, Ethiopia.
    Mahdi, Salih Abdul
    Department of Biotechnology, Panjab University, 160014 Chandigarh, India.
    Gupta, Libsy
    Department of Biotechnology, Panjab University, 160014 Chandigarh, India.
    Thakur, Hitender
    Department of Biotechnology, Panjab University, 160014 Chandigarh, India.
    Singh, Neha
    Department of Biotechnology, Panjab University, 160014 Chandigarh, India.
    Impact of XPD gene polymorphism on risk of prostate cancer on north Indian population2012In: Molecular and Cellular Biochemistry, ISSN 0300-8177, E-ISSN 1573-4919, Vol. 362, no 1-2, p. 263-8Article in journal (Refereed)
    Abstract [en]

    Prostate cancer is the second most diagnosed cancer in men next to skin cancer in the developed world. Risk of disease varies most prominently with age, ethnicity, family history, and diet. Genetic polymorphism of some genes has been implicated in increasing the risk. The XPD (Xeroderma pigmentosum group D) gene codes for a DNA helicase involved in transcription and nucleotide excision repair. The aim of this study is to evaluate the effect of XPD 751 Lys/Gln polymorphism on risk of prostate cancer on north Indian patients. Blood sample from 150 prostate cancer patients, 150 from Prostate Hyper Plasia and equal number of samples from healthy control groups was collected from North India. The polymerase chain reaction and restrictive fragment length polymorphism techniques were implemented. Statistically non-significant increase risk of prostate cancer was observed with patients having Gln/Gln genotype (OR 1.62, 95% CI).

  • 165.
    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.

  • 166.
    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).

  • 167.
    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.

  • 168.
    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.

  • 169.
    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.

  • 170.
    Sánchez, Stella M.
    et al.
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina / Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina / Departamento de Física, Facultad de Cs. Exactas y Naturales, Universidad de Buenos Aires, Argentina.
    Duarte-Abritta, Bárbara
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina.
    Abulafia, Carolina
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina / Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina / Institute for Biomedical Research (BIOMED), Pontifical Catholic University of Argentina, Argentina.
    De Pino, Gabriela
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina / Escuela de Ciencia y Tecnología, Universidad Nacional de San Martín, Argentina / Laboratorio de Neuroimágenes, Departamento de Imágenes, Fundación FLENI, Argentina.
    Bocaccio, Hernan
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina / Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina / Departamento de Física, Facultad de Cs. Exactas y Naturales, Universidad de Buenos Aires, Argentina.
    Castro, Mariana N.
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina / Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina / Departamento de Fisiología, Facultad de Medicina, Universidad de Buenos Aires, Argentina / Departamento de Salud Mental, Facultad de Medicina, Universidad de Buenos Aires, Argentina.
    Sevlever, Gustavo E.
    Departamento de Neuropatología y Biología Molecular, Fundación FLENI, Argentina.
    Fonzo, Greg A.
    Institute of Early Life Adversity Research, Department of Psychiatry, University of Texas at Austin, United States.
    Nemeroff, Charles B.
    Institute of Early Life Adversity Research, Department of Psychiatry, University of Texas at Austin, United States.
    Gustafson, Deborah R.
    University of Skövde, School of Health and Education. University of Skövde, Health and Education. Department of Neurology, State University of New York University Downstate Medical Center, United States.
    Guinjoan, Salvador M.
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina / Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina / Departamento de Fisiología, Facultad de Medicina, Universidad de Buenos Aires, Argentina / Departamento de Salud Mental, Facultad de Medicina, Universidad de Buenos Aires, Argentina / Servicio de Psiquiatría, Fundación FLENI, Argentina / Neurofisiología I, Facultad de Psicología, Universidad de Buenos Aires, Argentina.
    Villarreal, Mirta F.
    Grupo de Investigación en Neurociencias Aplicadas a las Alteraciones de la Conducta, Instituto de Neurociencias FLENI-CONICET, Argentina / Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina / Departamento de Física, Facultad de Cs. Exactas y Naturales, Universidad de Buenos Aires, Argentina.
    White matter fiber density abnormalities in cognitively normal adults at risk for late-onset Alzheimer´s disease2020In: Journal of Psychiatric Research, ISSN 0022-3956, E-ISSN 1879-1379, Vol. 122, p. 79-87Article in journal (Refereed)
    Abstract [en]

    Tau accumulation affecting white matter tracts is an early neuropathological feature of late-onset Alzheimer’s disease (LOAD). There is a need to ascertain methods for the detection of early LOAD features to help with disease prevention efforts. The microstructure of these tracts and anatomical brain connectivity can be assessed by analyzing diffusion MRI (dMRI) data. Considering that family history increases the risk of developing LOAD, we explored the microstructure of white matter through dMRI in 23 cognitively normal adults who are offspring of patients with Late-Onset Alzheimer’s Disease (O-LOAD) and 22 control subjects (CS) without family history of AD. We also evaluated the relation of white matter microstructure metrics with cortical thickness, volumetry, in vivo amyloid deposition (with the help of PiB positron emission tomography -PiB-PET) and regional brain metabolism (as FDG-PET) measures. Finally we studied the association between cognitive performance and white matter microstructure metrics. O-LOAD exhibited lower fiber density and fractional anisotropy in the posterior portion of the corpus callosum and right fornix when compared to CS. Among O-LOAD, reduced fiber density was associated with lower amyloid deposition in the right hippocampus, and greater cortical thickness in the left precuneus, while higher mean diffusivity was related with greater cortical thickness of the right superior temporal gyrus. Additionally, compromised white matter microstructure was associated with poorer semantic fluency. In conclusion, white matter microstructure metrics may reveal early differences in O-LOAD by virtue of parental history of the disorder, when compared to CS without a family history of LOAD. We demonstrate that these differences are associated with lower fiber density in the posterior portion of the corpus callosum and the right fornix.

  • 171.
    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.

  • 172.
    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.

  • 173.
    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.

  • 174.
    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).

  • 175.
    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.

  • 176.
    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.

  • 177.
    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.

  • 178.
    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.

  • 179.
    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.

  • 180.
    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.

  • 181.
    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.

  • 182.
    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.

  • 183.
    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.

  • 184.
    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)
  • 185.
    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)
  • 186.
    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.

  • 187.
    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.

  • 188.
    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.

  • 189.
    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.

  • 190.
    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.

  • 191.
    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.

  • 192.
    Tapp, Eve
    University of Skövde, School of Health and Education.
    Kommunikation med sjuksköterskor vid vård av maligna hematologiska sjukdomar: En enkätstudie om patienters upplevelser2019Independent thesis Basic level (degree of Bachelor), 10 credits / 15 HE creditsStudent thesis
    Abstract [en]

    Background: Malignant hematologic diseases can occur both among children and the elderly. Successful communication is a central part of satisfying and safe person-centered care, hence nurses need to be informed about how patients experience communication with nurses. Aim and objectives: To examine patients’ experience of communication with nurses during their hospital stay while being treated for malignant hematologic diseases. Method: Quantitative design with qualitative elements - a prospective cross-sectional study where data comprised a patient questionnaire survey of their treatment in a hematology ward at a hospital in Western Sweden. Results: Patients were overall satisfied with the communication with nurses; however, signs of insufficient nursing staff and stress were eminent. Patients desired more time for conversations with nurses. Occasionally other patients were present in shared patient rooms while private matters were discussed with nurses and doctors. Discussion: Integrity emerges as an important aspect, as conversations with nurses in shared patient rooms can leave patients exposed. Conclusion: Larger comparable reoccurring studies are needed to outline patients’ experiences of communication with nurses in different wards, to get a clear perception of what can be improved and how. This research would provide consistency and improvements related to communication between patients and nurses.

  • 193.
    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.

  • 194.
    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)
  • 195.
    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.

  • 196.
    Tilevik, Diana
    et al.
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Pernestig, Anna-Karin
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Ljungström, Lars
    Department of Infectious Diseases, Skaraborg Hospital , Skövde, Sweden.
    Clinical routine biomarkers in combination for early identification of patients with bacterial sepsis2019Conference paper (Refereed)
  • 197.
    Tilevik, Diana
    et al.
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Tilevik, Andreas
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Saxenborn, Patricia
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Fagerlind, Magnus
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Lubovac-Pilav, Zelmina
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Pernestig, Anna-Karin
    University of Skövde, School of Bioscience. University of Skövde, Systems Biology Research Environment.
    Enroth, Helena
    Department of Clinical Microbiology, Unilabs AB, Skövde, Sweden.
    Using next-generation sequencing to study biodiversity in Klebsiella spp. isolated from patients with suspected sepsis2019Conference paper (Refereed)
  • 198.
    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.

  • 199.
    Toffaha, Ali
    et al.
    Department of General Surgery, Hamad Medical Corporation, Doha, Qatar.
    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.
    Elaiwy, Orwa
    Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar.
    Obaid, Munzir
    Department of General Surgery, Hamad Medical Corporation, Doha, Qatar.
    Al-Yahri, Omer
    Department of General Surgery, Hamad Medical Corporation, Doha, Qatar.
    Abdelazim, Sherif
    Department of General Surgery, Hamad Medical Corporation, Doha, Qatar.
    First sliding Amyand hernia harbouring appendicular schistosomiasis: Case report2019In: International journal of surgery case reports, ISSN 2210-2612, E-ISSN 2210-2612, Vol. 63, p. 143-146Article in journal (Refereed)
    Abstract [en]

    Introduction: Amyand's hernia (AH) is rare, schistosomiasis of the appendix is very uncommon, and both conditions coexisting together is an extremely rare event. Pre-operative diagnosis of each of the two conditions is usually difficult. To the best of our knowledge, the current paper is first to report both these two conditions in coexistence. Presentation of case: A 31-year old man who had no comorbidities was admitted electively as a day case of non-complicated right indirect inguinal hernia. Further history and physical examination were unremarkable. Intraoperatively the patient was found to have right sliding AH with appendicular schistosomiasis (AS). The patient underwent Lichtenstein repair of the hernia with appendectomy. On follow up he was referred to infectious disease clinic, and the post-operative course was uneventful. Conclusions: Intraoperative identification of non-typical hernia sac before its opening should alert the surgeon to the possibility of sliding hernia and the presence of an organ as a part of the sac. Rare causes of appendicular masses like schistosomiasis granuloma should be considered in endemic areas or immigrants from these areas, despite the difficulty of preoperative diagnosis. Management should follow general guidelines of appendectomy, hernia repair and dealing with the associated pathology if present. 

  • 200.
    Toffaha, Ali
    et al.
    Department of General Surgery, Hamad Medical Corporation, Doha, Qatar.
    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.
    Ramzee, Ahmed Faidh
    Department of General Surgery, Hamad Medical Corporation, Doha, Qatar.
    Afana, Mohammad
    Department of Internal Medicine, Hamad Medical Corporation, Doha, Qatar.
    Aljohary, Hesham
    Department of General Surgery, Hamad Medical Corporation, Doha, Qatar.
    Rare presentation of primary varicella zoster as fatal fulminant hepatitis in adult on low-dose, short-term steroid: Case report2019In: Annals of Medicine and Surgery, ISSN 2049-0801, Vol. 48, p. 115-117Article in journal (Refereed)
    Abstract [en]

    Background: Varicella zoster virus presents clinically as primary (chickenpox) or secondary (herpes zoster) infection. Cutaneous and extracutaneous dissemination may occur, usually in immunocompromised patients. VZV hepatitis that progresses to fulminant hepatic failure is very rare and fatal. To the best of our knowledge, 9 cases have been reported to date, of which 7 were in immunocompromised adults, and only one patient was on short duration steroid therapy. Presentation of case: We present a 26-year old man who was admitted initially with acute abdomen as query persistent biliary colic. Later, he showed clinical and laboratory findings of VZV hepatitis that progressed rapidly despite maximal medical ICU support and he expired on day 3 of admission. Conclusions: Acute VZV infection may present as fulminant hepatitis. The presentation may initially be challenging for the diagnosis and should be considered if the patient has been in contact with a sick case. Low dose corticosteroid could carry a risk for fatal VZV fulminant hepatitis and should be used very cautiously especially with VZV patients’ contacts. Further causative relationships remain to be established. 

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