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  • 1
    Publication Date: 2013-12-18
    Description: Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with large effects on LOAD risk, we carried out whole-exome sequencing (WES) in 14 large LOAD families and follow-up analyses of the candidate variants in several large LOAD case-control data sets. A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent. Gene-based burden analyses in 4,387 cases and controls of European descent and 302 African American cases and controls, with complete sequence data for PLD3, reveal that several variants in this gene increase risk for Alzheimer's disease in both populations. PLD3 is highly expressed in brain regions that are vulnerable to Alzheimer's disease pathology, including hippocampus and cortex, and is expressed at significantly lower levels in neurons from Alzheimer's disease brains compared to control brains. Overexpression of PLD3 leads to a significant decrease in intracellular amyloid-beta precursor protein (APP) and extracellular Abeta42 and Abeta40 (the 42- and 40-residue isoforms of the amyloid-beta peptide), and knockdown of PLD3 leads to a significant increase in extracellular Abeta42 and Abeta40. Together, our genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and that PLD3 influences APP processing. This study provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4050701/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4050701/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Cruchaga, Carlos -- Karch, Celeste M -- Jin, Sheng Chih -- Benitez, Bruno A -- Cai, Yefei -- Guerreiro, Rita -- Harari, Oscar -- Norton, Joanne -- Budde, John -- Bertelsen, Sarah -- Jeng, Amanda T -- Cooper, Breanna -- Skorupa, Tara -- Carrell, David -- Levitch, Denise -- Hsu, Simon -- Choi, Jiyoon -- Ryten, Mina -- UK Brain Expression Consortium -- Hardy, John -- Trabzuni, Daniah -- Weale, Michael E -- Ramasamy, Adaikalavan -- Smith, Colin -- Sassi, Celeste -- Bras, Jose -- Gibbs, J Raphael -- Hernandez, Dena G -- Lupton, Michelle K -- Powell, John -- Forabosco, Paola -- Ridge, Perry G -- Corcoran, Christopher D -- Tschanz, Joann T -- Norton, Maria C -- Munger, Ronald G -- Schmutz, Cameron -- Leary, Maegan -- Demirci, F Yesim -- Bamne, Mikhil N -- Wang, Xingbin -- Lopez, Oscar L -- Ganguli, Mary -- Medway, Christopher -- Turton, James -- Lord, Jenny -- Braae, Anne -- Barber, Imelda -- Brown, Kristelle -- Alzheimer's Research UK Consortium -- Passmore, Peter -- Craig, David -- Johnston, Janet -- McGuinness, Bernadette -- Todd, Stephen -- Heun, Reinhard -- Kolsch, Heike -- Kehoe, Patrick G -- Hooper, Nigel M -- Vardy, Emma R L C -- Mann, David M -- Pickering-Brown, Stuart -- Kalsheker, Noor -- Lowe, James -- Morgan, Kevin -- David Smith, A -- Wilcock, Gordon -- Warden, Donald -- Holmes, Clive -- Pastor, Pau -- Lorenzo-Betancor, Oswaldo -- Brkanac, Zoran -- Scott, Erick -- Topol, Eric -- Rogaeva, Ekaterina -- Singleton, Andrew B -- Kamboh, M Ilyas -- St George-Hyslop, Peter -- Cairns, Nigel -- Morris, John C -- Kauwe, John S K -- Goate, Alison M -- 081864/Wellcome Trust/United Kingdom -- 089698/Wellcome Trust/United Kingdom -- 089703/Wellcome Trust/United Kingdom -- 100140/Wellcome Trust/United Kingdom -- 1R01AG041797/AG/NIA NIH HHS/ -- 5U24AG026395/AG/NIA NIH HHS/ -- AG005133/AG/NIA NIH HHS/ -- AG023652/AG/NIA NIH HHS/ -- AG030653/AG/NIA NIH HHS/ -- AG041718/AG/NIA NIH HHS/ -- AG07562/AG/NIA NIH HHS/ -- G0802189/Medical Research Council/United Kingdom -- G0802462/Medical Research Council/United Kingdom -- G0901254/Medical Research Council/United Kingdom -- G1100695/Medical Research Council/United Kingdom -- K01 AG046374/AG/NIA NIH HHS/ -- MC_G1000734/Medical Research Council/United Kingdom -- NIH P50 AG05681/AG/NIA NIH HHS/ -- NIH R01039700/PHS HHS/ -- P01 AG003991/AG/NIA NIH HHS/ -- P01 AG026276/AG/NIA NIH HHS/ -- P01 AG03991/AG/NIA NIH HHS/ -- P30 NS069329/NS/NINDS NIH HHS/ -- P30-NS069329/NS/NINDS NIH HHS/ -- P50 AG005133/AG/NIA NIH HHS/ -- P50 AG005681/AG/NIA NIH HHS/ -- R01 AG011380/AG/NIA NIH HHS/ -- R01 AG030653/AG/NIA NIH HHS/ -- R01 AG035083/AG/NIA NIH HHS/ -- R01 AG039700/AG/NIA NIH HHS/ -- R01 AG041718/AG/NIA NIH HHS/ -- R01 AG041797/AG/NIA NIH HHS/ -- R01 AG042611/AG/NIA NIH HHS/ -- R01 AG044546/AG/NIA NIH HHS/ -- R01-AG035083/AG/NIA NIH HHS/ -- R01-AG042611/AG/NIA NIH HHS/ -- R01-AG044546/AG/NIA NIH HHS/ -- R01-AG11380/AG/NIA NIH HHS/ -- R01-AG18712/AG/NIA NIH HHS/ -- R01-AG21136/AG/NIA NIH HHS/ -- R01AG21136/AG/NIA NIH HHS/ -- R25 DA027995/DA/NIDA NIH HHS/ -- U24 AG021886/AG/NIA NIH HHS/ -- U24 AG026395/AG/NIA NIH HHS/ -- U24AG21886/AG/NIA NIH HHS/ -- WT089698/Wellcome Trust/United Kingdom -- ZIA AG000950-11/Intramural NIH HHS/ -- ZO1 AG000950-10/AG/NIA NIH HHS/ -- ZO1AG000950-11/AG/NIA NIH HHS/ -- Canadian Institutes of Health Research/Canada -- England -- Nature. 2014 Jan 23;505(7484):550-4. doi: 10.1038/nature12825. Epub 2013 Dec 11.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. ; 1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [3]. ; 1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2]. ; Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. ; 1] Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK [2] Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA. ; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. ; Department of Medical and Molecular Genetics, King's College London, 16 De Crespigny Park, London SE5 8AF UK. ; MRC Sudden Death Brain Bank Project, University of Edinburgh, South Bridge, Edinburgh EH8 9YL UK. ; 1] Institute of Psychiatry, King's College London, 16 De Crespigny Park, London SE5 8AF, UK [2] Neuroimaging Genetics, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Queensland 4006, Australia. ; Institute of Psychiatry, King's College London, 16 De Crespigny Park, London SE5 8AF, UK. ; Istituto di Genetica delle Popolazioni - CNR, Trav. La Crucca, 3 - Reg. Baldinca - 07100 Li Punti, Sassari, Italy. ; Department of Biology, Brigham Young University, Provo, Utah 84602, USA. ; 1] Department of Mathematics and Statistics, Utah State University, Logan, Utah 84322, USA [2] Center for Epidemiologic Studies, Utah State University, Logan, Utah 84322, USA. ; 1] Center for Epidemiologic Studies, Utah State University, Logan, Utah 84322, USA [2] Department of Psychology, Utah State University, Logan, Utah 84322, USA. ; 1] Center for Epidemiologic Studies, Utah State University, Logan, Utah 84322, USA [2] Department of Psychology, Utah State University, Logan, Utah 84322, USA [3] Department of Family Consumer and Human Development, Utah State University, Logan, Utah 84322, USA. ; 1] Department of Family Consumer and Human Development, Utah State University, Logan, Utah 84322, USA [2] Department of Nutrition, Dietetics, and Food Sciences, Utah State University, Logan, Utah 84322, USA. ; Department of Human Genetics, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. ; 1] Alzheimer's Disease Research Center, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA [2] Department of Neurology, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. ; Department of Psychiatry, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. ; Human Genetics, School of Molecular Medical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK. ; Queen's University Belfast, University Road, Belfast BT7 1NN, UK. ; Royal Derby Hospital, Uttoxeter Road, Derby, DE22 3NE, UK. ; University of Bonn, Regina-Pacis-Weg 3, 53113 Bonn, Germany. ; University of Bristol, Tyndall Avenue, Bristol, City of Bristol BS8 1TH, UK. ; University of Leeds, Woodhouse Lane, Leeds, West Yorkshire LS2 9JT, UK. ; University of Newcastle, Newcastle upon Tyne, Tyne and Wear NE1 7RU, UK. ; University of Manchester, Oxford Road, Manchester, Greater Manchester M13 9PL, UK. ; University of Oxford (OPTIMA), Wellington Square, Oxford OX1 2JD, UK. ; 1] Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Avenida Pio XII, 55. 31008 Pamplona, Navarra, Spain [2] Department of Neurology, Clinica Universidad de Navarra, School of Medicine, University of Navarra Avenida Pio XII, 36. 31008 Pamplona, Spain [3] CIBERNED, Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain. ; Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Avenida Pio XII, 55. 31008 Pamplona, Navarra, Spain. ; University of Washington, 325 Ninth Avenue, Seattle, Washington 98104-2499, USA. ; The Scripps Research Institute, La Jolla, California 3344 North Torrey Pines Court, La Jolla, California 92037, USA. ; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, Ontario M5T 2S8, Canada. ; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1014, 35 Lincoln Drive, Bethesda, Maryland 20892, USA. ; 1] Department of Human Genetics, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA [2] Alzheimer's Disease Research Center, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA [3] Department of Neurology, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA. ; 1] Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, Ontario M5T 2S8, Canada [2] Cambridge Institute for Medical Research, and the Department of Clinical Neurosciences, University of Cambridge, Hills Road, Cambridge CB2 0XY, UK. ; 1] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Pathology and Immunology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. ; 1] Pathology and Immunology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Department of Neurology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [3] Knight ADRC, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA. ; 1] Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [2] Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [3] Department of Neurology, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [4] Knight ADRC, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA [5] Department of Genetics, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24336208" target="_blank"〉PubMed〈/a〉
    Keywords: African Americans/genetics ; Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/*genetics/metabolism ; Amyloid beta-Peptides/metabolism ; Amyloid beta-Protein Precursor/metabolism ; Brain/metabolism ; Case-Control Studies ; Europe/ethnology ; Exome/genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Genetic Variation/*genetics ; Humans ; Male ; Peptide Fragments/metabolism ; Phospholipase D/deficiency/*genetics/metabolism ; Protein Processing, Post-Translational/genetics ; Proteolysis
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 2
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    Nature Publishing Group (NPG)
    Publication Date: 2012-02-24
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Cooper, Barry -- England -- Nature. 2012 Feb 22;482(7386):465. doi: 10.1038/482465a.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉School of Mathematics, University of Leeds, Leeds LS2 9JT, UK. pmt6sbc@leeds.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22358814" target="_blank"〉PubMed〈/a〉
    Keywords: *Algorithms ; Animals ; Artificial Intelligence ; Brain/physiology ; *Computer Simulation ; Computers/history ; History, 20th Century ; Humans ; Mathematics/history ; Morphogenesis ; Quantum Theory/history
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 3
    Publication Date: 2018-05-02
    Description: Purpose: Colorectal cancer is the third most common cancer worldwide, causing approximately 700,000 deaths each year. The majority of colorectal cancers begin as adenomas. Definitive screening for colorectal adenomas is currently accomplished through colonoscopy but, owing largely to costs and invasiveness, is typically limited to patient groups at higher risk by virtue of age or family history. We sought to determine if blood-based small RNA markers could detect colorectal adenoma. Experimental Design: We applied high-depth small RNA sequencing to plasma from a large ( n = 189) cohort of patients, balanced for age, sex, and ancestry. Our analytical methodology allowed for the detection of both microRNAs and other small RNA species. We replicated sequencing results by qPCR on plasma samples from an independent cohort ( n = 140). Results: We found several small RNA species with significant associations to colorectal adenoma, including both microRNAs and non-microRNA small RNAs. These associations were robust to correction for patient covariates, including age. Among the adenoma-associated small RNAs, two, a miR-335-5p isoform and an un-annotated small RNA, were validated by qPCR in an independent cohort. A classifier trained on measures of these two RNAs in the discovery cohort yields an AUC of 0.755 (0.775 with age) for adenoma detection in the independent cohort. This classifier accurately detects adenomas in patients under 50 and is robust to sex or ancestry. Conclusions: Circulating small RNAs (including but not limited to miRNAs) discovered by sequencing and validated by qPCR identify patients with colorectal adenomas effectively. Clin Cancer Res; 24(9); 2092–9. ©2018 AACR .
    Print ISSN: 1078-0432
    Electronic ISSN: 1557-3265
    Topics: Medicine
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  • 4
  • 5
    ISSN: 1432-1106
    Keywords: Temporomandibular ; Joint ; Biomechanics ; Gender ; Nociception
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Chronic pain in the temporomandibular (TM) joint is predominantly manifested in women. We examined biomechanical and neural factors that could contribute to this differential representation. Relationships between jaw rotation, soft tissue strains and soft tissue forces were examined in the goat TM joint. Strains were minimal until the jaw was rotated beyond the normal range of motion (7.25 deg). There were no significant differences in rotation-strain patterns in males and females. Stress developed as strains were introduced by jaw rotation. Gender differences were observed. Males manifested higher failure loads (15.94±1.98 and 11.37±2.02 N, for males and females respectively) and higher elastic stiffness than females (5.62±1.19 N/mm and 1.64±0.31 N/mm, for males and females respectively). Recordings were made from cell bodies in the trigeminal ganglion whose distal processes innervated the retrodiscal tissue of the temporomandibular joint of the goat (n=48). Nociceptor reactivity was characterized with respect to the capacity to transduce mandibular rotation (rotation-interval functions;n=29). On the basis of established relationships between rotation, strain and tissue forces, rotation-interval functions were transformed into strain-interval and force-interval functions. Comparisons were made between nociceptor properties grouped by gender. No differences in properties were observed when nociceptors were characterized with respect to jaw rotation; however, gender differences were obtained when nociceptor reactivity was characterized with respect to retrodiscal strains or forces. Consistent with smaller failure loads, nociceptors of retrodiscal tissues of females manifested a smaller range (1.12 vs 4.33 N), force to average (1.51 vs 4.64 N), force to minimum (0.95 vs 2.48 N) and force to asymptotic discharge (2.07 vs 6.81 N). Consistent with lower elastic stiffness, nociceptors of female tissues manifested higher average strain (54.4% vs 41.9%) and peak strain (74.0% vs 58.1%) to asymptotic discharge relative to those sampled from male tissues. The implications of these findings for TM joint injury and chronic pain are considered.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    World journal of surgery 9 (1985), S. 930-937 
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Cet article est consacré au lymphome de l'intestin grÊle. Bien que centré sur le lymphome primitif (dit lymphome de type occidental) il concerne également le lymphome qui traduit une manifestation d'une maladie immunoproliférative de l'intestin (qualifié de lymphome de type méditerranéen) et ce à partir d'une expérience de 7 malades présentant une maladie coeliaque. Ce second type et la maladie associée de la chainealpha sont également étudiés en s'attachant à souligner les éléments distinctifs qui les séparent du lymphome primitif.
    Abstract: Resumen Este artículo revisa el tema del linfoma intestinal. Aunque se hace énfasis principal en el linfoma intestinal primario del tipo “Occidental,” también se discute el tópico relativo al linfoma en la enfermedad celiaca. Se presenta un estudio sobre nuestra experiencia reciente con 7 pacientes con linfoma en enfermedad celiaca. También se revisan la enfermedad inmunoproliferativa del intestino delgado (linfoma “Mediterráneo”) y la enfermedad de cadena α asociada, con énfasis en sus diferencias con el tipo “Occidental” de linfoma primario del intestino delgado.
    Notes: Abstract This paper reviews small intestinal lymphoma. Although a major emphasis is placed on primary small intestinal lymphoma of the “Western” type, the important topic of lymphoma in celiac disease is discussed. Our own recent experience of 7 patients with lymphoma in celiac disease is presented. The lymphoma of immunoproliferative small intestinal disease (“Mediterranean” lymphoma) and the associated α-chain disease are also reviewed, with emphasis on the differences from the “Western” type of primary small intestinal lymphoma.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    ISSN: 1433-9285
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-9285
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Data from a survey of school-age children in Mannheim are used to test the hypothesis that two forms of mental retardation — the ‘pathological’ and the ‘subcultural’ — can be differentiated on the basis of intelligence tests. The findings indicate that this dichotomy is an over-simplification, since frequency of neurological and other organic impairments is inversely related to intelligence level over a fairly wide range. The best cut-off point for screening purposes, in discriminating between severe or moderately severe retardation (usually pathological), on the one hand, and mild retardation (usually subcultural), on the other, corresponds roughly to IQ 50. Use of higher thresholds tends to increase misclassification and to yield less reliable prevalence rates. Classification of children in the IQ-range 50–70 as mentally handicapped (severely or moderately mentally retarded) appears to be subject to social-class bias, and hence could be selectively disadvantageous for children from lower social-status families. can walk, at best, only with some help.
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  • 9
    ISSN: 1432-0533
    Keywords: Dog ; Muscle pathology ; Muscular dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The clinical and morphological features of a congenital myopathy in a young male golden retriever dog were studied. Muscle biopsies at 4 and 8 months of age were examined with light and electron microscopy. Clinical features included early onset of generalized muscle weakness with selective muscle atrophy and hypertrophy, splaying of the limbs, stiff gait, and marked elevation of serum creatine kinase (CK). An electromyograph revealed spontaneous electrical activity characterized by sustained high-frequency activity, which was not abolished by neuromuscular blockade. Morphologically there was marked hypercontraction and segmental necrosis of muscle fibers with phagocytosis and regeneration. Ultrastructurally, dilatation of sarcoplasmic reticulum was the most consistent feature associated with early fiber degeneration. No abnormalities were noted in the central or peripheral nervous system. Progression of the disease was evident at 8 months. It was concluded that the findings are consistent with a dystrophic process of primary muscle origin. The probable genetics and comparison to other animal models of muscular dystrophy and to Duchenne dystrophy are discussed.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-0533
    Keywords: Peripheral nerves ; Dog diseases ; Transplantation ; Schwann cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Segments of peripheral nerve from dogs with canine inherited hypertrophic neuropathy (CIHN) were transplanted to the transected sciatic nerve of immuno incompetent mice. Regenerating mouse axons penetrated the grafts and were myelimated by dog Schwann cells. In grafts collected 3 or more months after transplantation, filamentous or granular material, identical to that occurring in nerves of affected dogs, accumulated in myelinating Schwann cells. Demyelinated fibers were only rarely found in grafted segments of affected nerve. Neither filamentous accumulations nor demyelination were observed in grafts of control canine nerve. These results indicate that CIHN is associated with a defect in Schwann cell function, and the abnormal accumulations of filaments suggest that the defect may be in the cytoskeleton. The rarity of demyelination in grafts suggests that some factor in addition to the Schwann cell defect is required to precipitate myelin destruction.
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