Results 151 to 160 of about 77,916 (268)

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Does the tendon retract in flexor hallucis longus muscle laceration? A cadaveric study. [PDF]

Arch Orthop Trauma Surg
Aydın M, Şahin Y, Yağar H, Çiçek F, Ceranoğlu FG, Mert A, Çınaroğlu S.   +6 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Tendinitis and tenosynovitis - A pictorial essay

Indian Journal of Radiology and Imaging, 2006
A T Kharat, A Singh, P Ranganath, V M Kulkarni   +3 more
doaj   +1 more source

Resorbable Suture Is a Suitable Surgical Repair Material in a Rat Achilles Rupture and Repair Model. [PDF]

JB JS Open Access
Gilmore NK, Orr SV, Lam SK, Christiansen BA, Baar K.   +4 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Does Tourniquet Use Affect the Length of the Hamstring Tendon in Anterior Cruciate Ligament Reconstruction? [PDF]

J Clin Med
Altunkiliç T, Ari B, Güzel İ, Boz M, İnceoglu F.   +4 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Flexor Tendon Sheath Ganglion Causing Concurrent Trigger Wrist and Carpal Tunnel Syndrome. [PDF]

Case Rep Orthop
Alsharif M, Mhannayeh A, Jabri A, Taftafa B, Alsharif R, Summak R, Saeed M, Al-Sharif A.   +7 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source