Results 61 to 70 of about 1,253,968 (181)
Knee Surgery, Sports Traumatology, Arthroscopy, Volume 34, Issue 10, Page 3746-3760, October 2026.Abstract Purpose This study assessed the association between (1) annual and (2) cumulative surgeon volume and patient‐reported outcome measures (PROMS) after hip arthroscopic surgery for femoroacetabular impingement syndrome (FAIS) using data from the UK Nonarthroplasty hip registry (NAHR).
Richard Holleyman +8 more
wiley +1 more source
GATA3 haplo-insufficiency causes human HDR syndrome
Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformafions. Studies in patients with 10p deletions have defined two non-overlapping regions
Bilous RW; Van Esch H; Holdaway I; Shaw NJ; Fryns J-P; Van De Ven W; Thakker RV; Devriendt K; Groenen P; Nesbit MA; Schuffenhauer S; Lichtner P; Vanderlinden G; Harding B; Beetz R
core +4 more sources
Annals of Saudi Medicine, 2015 Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy ...
Ilham Ratbi +6 more
doaj +1 more source
Violence during pregnancy amplifies fear of childbirth: A nationwide cohort study in Finland
International Journal of Gynecology &Obstetrics, Volume 175, Issue 2, Page 1012-1019, November 2026.Abstract Objective This study examined the association between fear of childbirth (FOC) and exposure to violence during pregnancy, identified using diagnoses based on the International Classification of Diseases, 10th Revision. Methods This population‐based cohort study included 1 177 569 births in Finland between 2000 and 2020.
Raakel Viheroksa +5 more
wiley +1 more source
CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia
The Journal of Gene Medicine, Volume 28, Issue 10, October 2026.In this study, the identity of fibroblast cells isolated from the patient was identified using several methods. Then, the sgRNA3‐pX459 plasmid together with ssODN was transfected into fibroblast cells with a transfection efficiency of 49.64%. Finally, the entry of ssODN donor into fibroblast cells was confirmed using PCR‐RFLP and PAGE methods. ABSTRACT
Shokoufeh Yazdanparast +4 more
wiley +1 more source
Turkish Journal of Nephrology, 2019 HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. Haploinsufficiency of GATA3 on chromosome 10p15 is implicated in the pathogenesis of the syndrome.
Ebru Sevinç OK +6 more
doaj
GATA3 maintains the quiescent state of cochlear supporting cells by regulating p27kip1
Scientific Reports, 2021 Haplo-insufficiency of the GATA3 gene causes hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome. Previous studies have shown that Gata3 is required for the development of the prosensory domain and spiral ganglion neurons ...
Jiadong Xu +8 more
doaj +1 more source
Case report: a case of hypoparathyroidism–sensorineural deafness–renal dysplasia syndrome
Frontiers in GeneticsThis article reports a case of a young woman who was admitted to the hospital with “sudden convulsions for 3 h.” She was diagnosed with hypoparathyroidism and found to have sensorineural deafness and left renal agenesis. A diagnosis of hypoparathyroidism–
Jinyan Yang +5 more
doaj +1 more source
Numerical simulation of multifracture HDR geothermal reservoirs
, 2021 This paper presents a three-dimensional (3D) numerical model of multifracture hot dry rock (HDR) systems using coupled thermo-hydro-mechanical (THM) modelling processes.
Rosalind A. Archer +3 more
core +1 more source
Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome
Case Reports in Nephrology, 2013 Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15.
Nasrollah Maleki +3 more
doaj +1 more source