Results 91 to 100 of about 184,621 (397)
Rapidly increasing incidence in scoliosis surgery over 14 years in a nationwide sample
European spine journal, 2018 PurposeSevere scoliosis is primarily managed with surgery. This cohort study describes the incidence of surgically treated scoliosis among Swedish youth and young adults, stratified by age, sex, scoliosis type, and surgical approach and identifies ...
J. Heideken, M. Iversen, P. Gerdhem
semanticscholar +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Inheritance and genetics in idiopathic scoliosis [PDF]
, 2015 Idiopathic scoliosis is the most common spine deformity, affecting approximately 3% of children and adolescents. Its aetiology is still unknown. However, relatives of individuals with idiopathic scoliosis have a higher risk of developing scoliosis ...
Grauers, Anna
core +1 more source
Adolescent idiopathic scoliosis
British medical journal, 1991 #### Summary points Scoliosis is a three dimensional deformity of the spine defined as a lateral curvature of the spine in the coronal plane of more than 10°.1 It can be categorised into three major types—congenital, syndromic, and idiopathic ...
F. Altaf +3 more
semanticscholar +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran +3 more
wiley +1 more source
Perioperative Benefits of a 3D Printed Spine Biomodel in the Setting of Congenital Scoliosis Surgery
Surgical Techniques DevelopmentThe spine community is continuously adding to its armamentarium of intraoperative techniques for visualization and instrumentation of the spine. Recently, three-dimensional printed spine models were introduced for use in preoperative planning, surgical ...
Dean C. Perfetti +3 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić +4 more
wiley +1 more source