Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study
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
Classification, nosology and diagnostics of Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) comprises a group of heritable connective tissue disorders which has as cardinal features varying degrees of skin hyperextensibility, joint hypermobility, easy bruising and skin fragility.
Ben C J Hamel
doaj +1 more source
Are People With Joint Hypermobility Syndrome Slow to Strengthen?
To M.1, Alexander C.1,21Imperial College Healthcare NHS Trust, Department of Therapies, London, United Kingdom, 2Imperial College London, Department of Surgery and Cancer, London, United KingdomBackground: Joint Hypermobility Syndrome (JHS) is characterised by excessive flexibility and multiple joint pains, with the knee being the most common site of ...
Alexander, C, To, M
openaire +3 more sources
Joint hypermobility syndrome in a young man
Joint hypermobility syndrome (JHS) is a hereditary connective tissue disorder characterized by symptomatic generalized joint hypermobility. Other features such as luxations and subluxations, periarticular lesions and cutaneous or other organ ...
Barcelos, Anabela +3 more
core
Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder
Ehlers–Danlos syndrome (EDS)—hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints ...
Yael Gazit, Giris Jacob, Rodney Grahame
doaj +1 more source
Hypermobility syndromes in paediatrics: progressions in assessment and management [PDF]
Joint Hypermobility Syndrome (JHS) and Ehlers Danlos Syndrome-Hypermobility Type (EDS-HM) referred to collectively as Hypermobility Syndromes (HMS), are heritable disorders of connective tissue comprising symptomatic joint hypermobility predisposing to
Mooney, Alice Margaret
core
A Diagnosis of Camptodactyly With Benign Joint Hypermobility Syndrome in a Patient Presenting With Fixed Flexion Deformity of the Fingers and Striae. [PDF]
Nishanth S, Ushagowry S.
europepmc +1 more source
Joint hypermobility, increased left atrium and transaortic flood, chronic infection and astenovegetative syndrome were found more frequently in patients with connective tissue dysplasia and prognostic significant arrhythmias.
А. В. Ягода +2 more
doaj +1 more source
Effects of Benign Joint Hypermobility Syndrome on the Clinical Characteristics of Carpal Tunnel Syndrome in Females. [PDF]
Satis S, Tuna M.
europepmc +1 more source

