Results 211 to 220 of about 5,165,603 (261)

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

Changes in the Workforce Characteristics of Providers Who Care for Adult Patients With Rheumatologic and Musculoskeletal Disease in the United States. [PDF]

Arthritis Rheumatol
Mannion ML, Xie F, FitzGerald JD, Alexander A, Mudano A, Su Y, Saag KG, Curtis JR.   +7 more
europepmc   +1 more source

Correction: Therapeutic drug monitoring of biopharmaceuticals in inflammatory rheumatic and musculoskeletal disease: a systematic literature review informing EULAR points to consider. [PDF]

RMD Open, 2022
europepmc   +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

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Ortho-digital dynamics: Exploration of advancing digital health technologies in musculoskeletal disease management. [PDF]

Digit Health
Maimaiti Z, Li Z, Li Z, Fu J, Xu C, Chen J, Chai W, Liu L.   +7 more
europepmc   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Understanding the effect of recreational drug use on bone health and musculoskeletal disease in the establishment of pain regimens. [PDF]

World J Emerg Med
Gartenberg A, Petrie A, Yen W, Cho W.
europepmc   +1 more source

Paleopathology of a putative colossosaurian caudal vertebra (Neosauropoda: Titanosauria) from the Presidente Prudente Formation, Brazil

The Anatomical Record, EarlyView.
Abstract Studies investigating paleopathologies in sauropods remain scarce despite their relative abundance in the fossil record. In this study we report new occurrence of paleopathological features, corresponding to a neoplasm found in a middle caudal vertebra (MCT.R.2120) of an advanced titanosaur from the Presidente Prudente Formation (Bauru Basin ...
Maria Luiza Peres Bertolossi, Kamila L. N. Bandeira, Roberta Veronese do Amaral, Arthur S. Brum, Rafael C. da Silva, Valéria Gallo   +5 more
wiley   +1 more source

Barriers and enablers to engagement in exercise and physical activity in non-English speaking South Asian people with chronic musculoskeletal disease. [PDF]

BMC Rheumatol
Maricar N, Yeowell G, David T, Khan B, Barton A, Hyrich KL, Hartley SE.   +6 more
europepmc   +1 more source