Results 131 to 140 of about 195,033 (306)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
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 +4 more
wiley +1 more source
THE ROLE OF PREVIOUS ANTERIOR CRUCIATE LIGAMENT INJURY ON THE VARIABILITY OF JOINT KINEMATICS AND COORDINATION DURING A MATCH SPECIFIC LAND-CUT TASK [PDF]
, 2012 This study compared the movement and coordination variability of the previously injured leg of ACL injured subjects (ACLr, n=9), against their non-injured leg and a control (nACL, n=9) leg.
Breen, S, Harrison, AJ, Kenny, IC
core
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source
Simultaneous anterior and posterior dislocation of hips: a case report and review of literature
Chinese Journal of Traumatology, 2012 【Abstract】The presence of anterior hip dislocation along with contralateral posterior hip dislocation in the ab-sence of other major traumas is a distinctly rare injury pattern. We report such a case, along with a review of previous cases.
Gupta Vinay +4 more
doaj
Animal Models and Experimental Medicine, EarlyView.The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu +7 more
wiley +1 more source
Arthroscopy TechniquesHip arthroscopy is widely used for treating conditions such as femoroacetabular impingement (FAI) and labral tears. Traditionally, traction has been considered essential during hip arthroscopy to provide adequate working space for procedures in the ...
Lingchao Ye, M.D. +9 more
doaj +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Directed differentiation of pluripotent stem cells into functional pancreatic β cells have emerged as a promising strategy for the radical treatment of type 1 diabetes, with preclinical and early clinical evidence demonstrating reversal of hyperglycemia and insulin independence.
Zifan Li, Yu Kang, Yuyu Niu
wiley +1 more source