Results 81 to 90 of about 75,659 (315)

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, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

The Challenges of Treating Female Soccer Players With ACL Injuries: Hamstring Versus Bone–Patellar Tendon–Bone Autograft

Orthopaedic Journal of Sports Medicine, 2020
Background: Although anterior cruciate ligament (ACL) injuries are common in female soccer players, the optimal graft option for ACL reconstruction is currently unclear.
Elise Britt MD, Ryan Ouillette BA, Eric Edmonds MD, Henry Chambers MD, Kristina Johnson ATC, OPA-C, Tracey Bastrom MA, Andrew Pennock MD   +6 more
doaj   +1 more source

Prevalence Rate of Adolescent Idiopathic Scoliosis: Results of School-based Screening in Surabaya, Indonesia [PDF]

, 2017
Introduction: Scoliosis is a lateral spinal deformity of 10 degrees or more, resulting in a C-shaped or S-shaped curve of the spine. Information about adolescent idiopathic scoliosis (AIS) prevalence rate is important not only for paediatric health care ...
Susilowati A., NIDN. 0020055507, Komang Agung Irianto Suryaningrat, NIDN. 8819130017, Dwi Purnomo S.B.   +2 more
core   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

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, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Misdiagnosing absent pedicle of cervical spine in the acute trauma setting

Orthopedic Reviews, 2015
Congenital absence of cervical spine pedicle can be easily misdiagnosed as facet dislocation on plain radiographs especially in the acute trauma setting.
Fahad H. Abduljabbar, Felipe Rossel, Anas Nooh, Peter Jarzem   +3 more
doaj   +1 more source

3D-Printed spinal orthosis in management of adolescent idiopathic scoliosis: a randomized controlled trial

, 2019
Summary: A randomized controlled trial between conventional and 3D-printed orthoses for adolescent idiopathic scoliosis (AIS) was conducted. No differences in Cobb angle were observed between groups.
Lin, YM, Wong, MS, Cheung, JPY, Cheung, KMC   +3 more
core  

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Treatment of mature/maturing AIS patients (Sanders ≥ 5) using a novel anterior scoliosis correction (ASC) Technique

Brain and Spine, 2021
Christopher Antonacci, M. Darryl Antonacci, William P. Bassett, Laury A. Cuddihy, Allison R. Haas, Janet L. Cerrone, Dominique S. Haoson, Randal R. Betz   +7 more
doaj   +1 more source

Radiation-Induced Intraspinal Chondrosarcoma: A Case Report

Global Spine Journal, 2015
Study Design Case report and review of the literature. Objective To report a unique case of an intraspinal chondrosarcoma that was diagnosed 18 years after radiotherapy for a cervical carcinoma and its remarkably unusual clinical presentation.
Peter Obid MD, Mathias Vierbuchen, Eduard Wolf, Michael Reichl, Thomas Niemeyer, Hüseyin Übeyli, Alexander Richter   +6 more
doaj   +1 more source

The Impact of Aging on the Anatomical Course of the Azygos Vein: A Retrospective, Computed Tomography Study

Clinical Anatomy, EarlyView.
ABSTRACT The azygos vein (AV) is typically described as ascending vertically to the right of the vertebral column before arching anteriorly to drain into the superior vena cava. However, a small number of studies suggest that it is found leftward in older adults.
Lauren R. Hector, Hania Paverd, Arthikkaa Thavakumar, Cecilia Brassett, Timothy J. Sadler   +4 more
wiley   +1 more source