Results 31 to 40 of about 1,232,690 (211)

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders

HGG Advances, 2022
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number.
Maribel Vazquez, Jack Chovanec, Jiwon Kim, Thomas DiMaggio, Joshua D. Milner, Clair A. Francomano, Christina A. Gurnett, Marco Ritelli, Marina Colombi, Jonathan J. Lyons   +9 more
doaj   +1 more source

Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

, 2016
Patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective tissue disorder causes pain remains unclear although previous studies suggested it shares similar
A. Pepe, F. Camerota, G. Cruccu, LEONE, CATERINA, Celletti, C, Pepe, A, R. Baron, LA CESA, SILVIA, Baron, R, M. Di Franco, CRUCCU, Giorgio, A. Truini, DI STEFANO, GIULIA, Castori, M, M. Castori, S. La Cesa, G. Di Stefano, C. Celletti, DI FRANCO, Manuela, TRUINI, ANDREA, Camerota, F., C. Leone   +21 more
core   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers–Danlos syndrome – hypermobility type

, 2017
Aim: To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers–Danlos syndrome–hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population.
Anne Maree Krahe, Nicholson, Leslie Lorenda, Roger David Adams, Adams, Roger David, Krahe, Anne Maree, Leslie Lorenda Nicholson   +5 more
core   +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

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Outcomes of Capsular Plication as Part of Hip Arthroscopic Management for Surgically Identified Microinstability Are Comparable to Outcomes in Matched Controls

Arthroscopy, EarlyView.
Purpose To compare 2‐year minimum outcomes of hip arthroscopic management with capsular plication in patients with microinstability with propensity‐matched controls. Methods We searched primary hip arthroscopies undertaken between August 2009 and December 2020 from a single‐surgeon database, excluding those with lateral center‐edge angle <18°, for ...
Catherine J. Bacon, Rowan P. Auchterlonie, Rebecca M. Woodward, Gen L. Foo, Man Lu, Abbey C. Lissaman, Matthew J. Brick   +6 more
wiley   +1 more source

Long COVID and hypermobility spectrum disorders have shared pathophysiology

Frontiers in Neurology
Hypermobility spectrum disorders (HSD) and hypermobile Ehlers–Danlos syndrome (hEDS) are the most common joint hypermobility conditions encountered by physicians, with hypermobile and classical EDS accounting for >90% of all cases.
Ravindra Ganesh, Bala Munipalli
doaj   +1 more source

On the question of the syndrome of hypermobility of joints

Bolʹ, Sustavy, Pozvonočnik, 2012
This article presents the diagnostic criteria of the syndrome of joint hypermobility,  the complications of this syndrome, described therapeutic measures.
V.V. Povoroznyuk, E.I. Podlianova
doaj   +1 more source

Periportal Capsulotomy Shows Promising Short‐Term Outcomes Compared With an Interportal Capsulotomy for the Treatment of Femoroacetabular Impingement Syndrome in Borderline and Dysplastic Female Patients

Arthroscopy, EarlyView.
Purpose To compare patient‐reported outcomes (PROs) and revision rates between borderline and dysplastic women who underwent an interportal capsulotomy approach versus a capsular sparing periportal capsulotomy approach for the treatment of femoroacetabular impingement syndrome. Methods Female patients with a lateral center edge angle ≤25° who underwent
Benjamin T. Johnson, Allan K. Metz, Zoe D. Trutner, Charles L. Holliday, Keaton Andra, Collin D. R. Hunter, Stephen K. Aoki   +6 more
wiley   +1 more source