Results 211 to 220 of about 249,915 (344)
Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 more
wiley +1 more source
Rapid Ventricular Pacing for Landing Zone Precision During Thoracic Endovascular Aortic Arch Repair: A Case Series. [PDF]
, 2017 Bokoch, Michael P +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
Principi zbrinjavanja ratnih povreda grudnog koša [PDF]
Vojnosanitetski Pregled, 2002 Stepić Vladislav +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt +4 more
wiley +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
REVISION PROCEDURES IN THE SURGICAL TREATMENT OF THORACIC AND LUMBAR SPINE INJURIES
, 2015 А. А. Афаунов +4 more
openalex +2 more sources
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
wiley +1 more source
Alterations in gut microbiota and metabolites contribute to postoperative sleep disturbances
Animal Models and Experimental Medicine, EarlyView.In this study, we classified postoperative patients into poor sleepers (PS) and good sleepers (GS) based on the bispectral index (BIS), and transplanted their fecal microbiota to pseudo‐germ‐free rats to analyze the sleep changes in rats and the potential mechanism.
Hui Zhong +7 more
wiley +1 more source