Results 221 to 230 of about 75,659 (315)

Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy:the critical role of LBX

, 2014
Lopez-Martin, Sara, Dietrich, Susanne, Fernandez-Mayoralas, Daniel Martin, Wotton, Karl R., Fernandez-Perrone, Ana Laura, Cigudosa, Juan C., Suela, Javier, Fernandez-Jaen, Alberto, Castellanos, Maria Del Carmen, Calleja-Perez, Beatriz   +9 more
core   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Comment on: "Analgesic effects of bilateral ultrasound-guided erector spinae plane block versus patient-controlled intravenous analgesia in correction surgery for idiopathic scoliosis: study protocol for a randomized controlled trial". [PDF]

Perioper Med (Lond)
Sethuraman RM.
europepmc   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, Volume 92, Issue 6, Page 1552-1566, June 2026.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

An Update on Pain Management in Pediatric Spine Surgery. [PDF]

Curr Rev Musculoskelet Med
Kiani SN, Bach K, Kwok V, Swarup I.
europepmc   +1 more source

A Novel Decomposition‐Based Growth Model for Simulating Stress‐Modulated Spinal Growth

International Journal for Numerical Methods in Biomedical Engineering, Volume 42, Issue 6, June 2026.
This study introduces the first decomposition‐based finite‐strain growth model for a simplified Functional Spinal Unit, where growth occurs simultaneously with mechanical loading. The approach eliminates the major physical inconsistency of sequential methods—growth in an artificial stress‐free configuration—while preventing mesh distortion and ...
Serhat Onur Çakmak, Ercan Gürses
wiley   +1 more source

Comprehensive Evaluation of Gait Analysis and Kinematics in Adult Degenerative Scoliosis Using Wearable Motion Capture Technologies. [PDF]

Sensors (Basel)
Çıklaçandır S, Kaya I.
europepmc   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, Volume 67, Issue 6, Page 3199-3210, June 2026.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Prevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study. [PDF]

PLoS One
Wakoya R, Afework M, Worku A, Dandena F, Bolongaro S, Nunn T.   +5 more
europepmc   +1 more source