Results 91 to 100 of about 19,422 (224)
Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study
Experimental Physiology, EarlyView.Abstract Internal carotid artery (ICA) dissection is a rare and potentially devastating cause of cerebral ischaemia, initiated by an intimal tear or rupture of the vasa vasorum, that can lead to an intraluminal thrombus, vascular stenosis, occlusion, or dissecting aneurysm formation.
Damian M. Bailey +14 more
wiley +1 more source
Hypermobile Ehlers-Danlos Syndrome during Pregnancy, Birth and Beyond: A Review of Midwifery Care Considerations [PDF]
, 2018 The Ehlers-Danlos Syndromes (EDS) are an underdiagnosed group of conditions with implications and risks associated with childbearing. Those with EDS suggest that healthcare professionals have a lack of awareness in this area, and consequently describe ...
Pearce, Gemma +2 more
core +2 more sources
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
Physiotherapy Intervention for Joint Hypermobility in Three Cases with Heritable Connective Tissue Disorders [PDF]
, 2010 peer reviewedIntroduction: In Joint Hypermobility Syndromes, chronic pain is the most disabling symptom. Its origin can be multiple (i.e. subluxations, sprains, pathologies of tendons, ligaments, peripheral nerves, multiple operations).
Crielaard, Jean-Michel +5 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
High Prevalence of Hypermobility and Benign Joint Hypermobility Syndrome (BJHS) in Oman [PDF]
, 2007 PURPOSE: To ascertain the prevalence of hypermobility and BJHS in a female patient population with musculoskeletal pain and compare the associated features with a pain free control group.
Clark, Carol J., Simmonds, Jane V.
core
The association between generalized joint hypermobility and active horizontal shoulder abduction in 10–15 year old competitive swimmers [PDF]
, 2016 BACKGROUND: Increased shoulder mobility and Generalised Joint Hypermobility (GJH) are assumed to be predisposing risk factors for shoulder injuries. The association between GJH and shoulder mobility among competitive swimmers is unknown.
Birgit Juul-Kristensen +5 more
core +3 more sources
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source