Results 91 to 100 of about 561,973 (252)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources

Cardiac disease in systemic sclerosis: Integrating pathobiology with clinical management

Rheumatology &Autoimmunity, EarlyView.
Abstract Systemic sclerosis (SSc) is a complex autoimmune disorder in which cardiovascular involvement remains a major determinant of morbidity and mortality. Cardiac injury in SSc results from the interplay of microvascular dysfunction, immune‐mediated inflammation, and progressive interstitial and replacement fibrosis, leading to myocardial disease ...
Henry Sutanto, Betty Rachma, Yuliasih
wiley   +1 more source

Sarcoidosis presenting as granulomatous myositis in a 16-year-old adolescent [PDF]

, 2016
BACKGROUND: Sarcoidosis is a multi-system disease characterized by the presence of non-caseating epithelioid granulomas in affected tissues, including skeletal muscle.
Eutsler, Eric Eutsler, Ferguson, Cole, Kitcharoensakkul, Maleewan, Orandi, Amir B, White, Andrew J   +4 more
core   +2 more sources

Slow Transit Constipation: Pathophysiological Perspectives and Management Updates

Journal of Digestive Diseases, EarlyView.
Slow transit constipation (STC) is a complex neuromuscular disorder driven by interstitial cells of Cajal (ICCs) loss and enteric neuropathy. Diagnosis relies on objective transit testing while excluding pelvic floor dysfunction. Management follows a stepwise, phenotype‐driven approach, progressing from conventional laxatives to emerging targeted ...
Athanasios Syllaios, Stavros P. Papadakos, Alexandros Ioannou, Maximos Frountzas, Dimosthenis Michelakis, Dimitrios Patsouras, Spyridon Dritsas, Manousos‐Georgios Pramateftakis, Dimitrios Schizas   +8 more
wiley   +1 more source

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia [PDF]

, 2011
Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder.
CÔRTE, C.C., FANGANIELLO, R.D., KIMONIS, V.E., NITRINI, R., PASSOS-BUENO, M.R.   +4 more
core   +3 more sources

Paraneoplastic necrotizing myopathy in a woman with breast cancer: a case report [PDF]

, 2009
Introduction Paraneoplastic necrotizing myopathy is a rare disorder, described as a proximal, symmetrical, and rapidly progressing myopathy that is manifested as a paraneoplastic syndrome.
Silvestre Joana, Santos Luis, Batalha Vitor, del Rio Ana, Lima Carlos, Carvalho Antonio, Martins Ana, Miranda Helena, Cabral Fatima, Felix Adelia, Aleixo Ana   +10 more
core   +1 more source

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture

BMC Medical Genetics, 2016
BackgroundHuman skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I skeletal fibers and cardiac ...
Miora Feinstein-Linial, M. Buvoli, A. Buvoli, M. Sadeh, R. Dabby, R. Straussberg, I. Shelef, Daniel Dayan, L. Leinwand, O. Birk   +9 more
semanticscholar   +1 more source