Results 31 to 40 of about 30,903 (207)
Advanced Science, EarlyView.Herein we report a boron‐based pyrazole, (Borsantrazole ‐ a small molecule that selectively targets oxidative stress) that significantly increases survival, reduces weight loss, delays disease onset, and affects global protein changes in the SOD1‐G37R mouse model of ALS.
Nitesh Sanghai +9 more
wiley +1 more source
Frontiers in SurgeryObjectiveTo investigate the choice of treatment options and long-term orthopedic results of congenital kyphosis in children due to anterior vertebral bone bridges.MethodsThe clinical data of children with congenital kyphosis due to anterior vertebral ...
Ke Xu +7 more
doaj +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
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Relationship Between Kyphosis and Postoperative Gastroesophageal Reflux After Proximal Gastrectomy
Annals of Gastroenterological SurgeryAim The prevalence of kyphosis is increasing with increasing life expectancy. One of the most notable gastrointestinal complications is gastroesophageal reflux disease (GERD) in patients with kyphosis.
Takaomi Ozawa +9 more
doaj +1 more source
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 +6 more
wiley +1 more source
EVALUATION OF CERVICAL LORDOSIS IN PATIENTS WITH ADOLESCENT IDIOPATHIC SCOLIOSIS
Coluna/ColumnaIntroduction: In healthy individuals and in patients with adolescent idiopathic scoliosis (AIS), the curvature of the cervical spine varies greatly, with approximately 36-40% of AIS patients having kyphosis of the cervical spine.
LUIS ANTONIO MEDEIROS MOLITERNO +6 more
doaj +1 more source
Хирургия позвоночника, 2022 Objective. To perform comparative analysis of posterior stabilization methods combined with cement vertebroplasty and osteoplasty with deproteinized bone allograft in the treatment of uncomplicated burst fractures of the vertebral bodies associated with ...
Viktor V. Rerikh, Vladimir D. Sinyavin
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source