Results 161 to 170 of about 261,948 (310)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances. [PDF]

MedComm (2020)
Ma X, Yinwang E, Chai X, Wang F, Chen Z, Wang S, Zhou H, Xue Y, Lei J, Chen F, Li H, Chen S, Zhao S, Wang K, Chen L, Gao J, Ye Z, Lin N.   +17 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Correction: World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO 2025). [PDF]

Aging Clin Exp Res
europepmc   +2 more sources

Meteorosensitivity of patients with rheumatic musculoskeletal diseases. [PDF]

PLoS One
Walker UA, Nettermann K, Walker S, Streeter A, Jaeger VK.   +4 more
europepmc   +1 more source

Dosing Interval Extension of Dupilumab in CRSwNP: Five‐Year Real World Outcomes

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a persistent, often Type 2‐mediated inflammatory disease that markedly impairs quality of life. While dupilumab provides rapid improvement, there is limited evidence on long‐term outcomes beyond 2 years, and the clinical impact of dosing‐interval extension remains unclear.
Nicholas J. Campion, Dioni‐Pinelopi Petsiou, Florian C. Fally, Karina Berbalk, Noah F. Melamed, Aldine Tu, Christina Morgenstern, Fana Alem Kidane, Mohammed Zghaebi, Linda Liu, Minghao Pan, Tina J. Bartosik, Victoria Stanek, Katarina Gangl, Julia Eckl‐Dorna, Sven Schneider   +15 more
wiley   +1 more source

Glucagon-like peptide-1: a critical link between gut microbiota dysbiosis and degenerative musculoskeletal diseases. [PDF]

Gut Microbes
Yang W, Hao C, Wang N, Xie J, Zhou B, Yang Z, Zheng A, Wei J, Li C, Xie C, Li H, Lei G, Zeng C.   +12 more
europepmc   +1 more source

Psychosocial factors at work, musculoskeletal disorders and the implementation of guidelines principles

The burden placed on society as a result of musculoskeletal disorders is substantial, requiring effective management especially in an occupational context. Recent occupational health guidelines recommend addressing potentially detrimental psychosocial
Bartys, Serena
core  

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source