Results 41 to 50 of about 9,927 (176)

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Scoliosis in an identical twin: a case report with literature review

PAMJ Clinical Medicine, 2020
Scoliosis is called the lateral angulation of the vertebra more than 10 degrees. Scoliosis is divided into two groups that is congenital and idiopathic scoliosis. Congenital scoliosis was presented in one of the two 14-year-old sisters who were identical
Serdar Toy, Sinan Yilar
doaj   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Adolescents With Idiopathic Scoliosis Are Not Osteoporotic

Spine, 2008
Case controlled study.To explore the relative effects of body mass index (BMI) and the presence or absence of adolescent idiopathic scoliosis (AIS) on bone mineral density (BMD) as evidenced by Z-scores in adolescents.Prior studies have identified adolescents with idiopathic scoliosis as having "osteoporosis" or "osteopenia," when only a small ...
Elizabeth A, Szalay, Patrick, Bosch, Richard M, Schwend, Brian, Buggie, Dan, Tandberg, Frederick, Sherman   +5 more
openaire   +3 more sources

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta, Carolina Gorodetsky, Todd M. Herrington, Angela L. Hewitt, Daniel E. Lumsden, Jennifer O'Malley, Terence Sanger   +6 more
wiley   +1 more source

The impact of sports activities on the occurrence and course of spinal deformity in patients with idiopathic scoliosis: a literature review

Хирургия позвоночника
Objective. To analyze current literature data on the relationship between sports and physical activity and the development and course of spinal deformity in adolescents with idiopathic scoliosis. Material and Methods.
S.A. Gevorgiz, D.A. Glukhov, S.O. Ryabykh, Yu.A. Fedorova, A.V. Gubin   +4 more
doaj   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source

The Results of The Surgical Treatment of Idiopathic Adolescent Scoliosis

مجله دانشکده پزشکی اصفهان, 2009
Background: Adolescent idiopathic scoliosis is the most common form of scoliosis. However, there is a little information exists about the patient satisfaction who underwent the surgery of adolescent idiopathic scoliosis. Most of the surgeons rely on the
Mohammadreza Etemadifar, Arsalan Mahmoodian, Farshad Mahnam   +2 more
doaj  

Analysis of Proximal Femoral Parameters in Adolescent Idiopathic Scoliosis

Advances in Orthopedics, 2019
Background. Assessment of the proximal femoral parameters in adolescent idiopathic scoliosis using three-dimensional radiological image reconstructions may allow better characterization than conventional techniques. Methods.
Máté Burkus, Ádám T. Schlégl, Kristóf József, Ian O’Sullivan, István Márkus, Miklós Tunyogi-Csapó   +5 more
doaj   +1 more source