Results 111 to 120 of about 1,722 (231)

Humanising Child Death: The Creation and Subsequent Development of Children's Palliative Care as a Distinct Clinical, Educational and Research Speciality

Journal of Advanced Nursing, EarlyView.
Jane Noyes
wiley   +1 more source

Deletion of a Pax1 Sex‐Associated Genomic Region Associated With Adolescent Idiopathic Scoliosis Leads to Disc Degeneration, Instability, and Vertebral Rotation in Mice

JOR SPINE, Volume 9, Issue 2, June 2026.
Overview of the effects of Pax1‐SAR deletion on gene expression, IVD degeneration, and resultant scoliotic‐like curvature between sexes. Proposed mechanism of sex‐dependent changes in gene expression in females (right) and males (left), resulting in sex‐dependent disc degeneration and scoliotic phenotypes.
Edward C. Moody, Emma M. Wade, Shuji Mizumoto, Jeremy McCallum‐Loudeac, Megan J. Wilson   +4 more
wiley   +1 more source

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1089-1095, June 2026.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

Risdiplam Add‐On Therapy Following Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy and 2 SMN2 Copies: A Multi‐Center Case Series

Muscle &Nerve, Volume 73, Issue 6, Page 1164-1171, June 2026.
ABSTRACT Introduction/Aims Three disease‐modifying therapies are approved for individuals with spinal muscular atrophy (SMA); however, data concerning the combination of these therapies remain limited. This study aimed to evaluate the safety and efficacy of add‐on risdiplam in children who had experienced clinical deterioration despite gene therapy ...
Corinna Stoltenburg, Klaus Goldhahn, Arpad von Moers, Angela M. Kaindl, Claudia Weiß   +4 more
wiley   +1 more source

Dystrophinopathy with a DMD exon 49–50 deletion in a female patient who developed schizophrenia: An autopsy case

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 2, June 2026.
Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Shusei Arafuka, Youta Torii, Ayako Miwa, Itaru Kushima, Hirotaka Sekiguchi, Hiroshige Fujishiro, Chikako Habuchi, Hiroaki Miyahara, Yosuke Kawai, Ran Wei, Katsushi Tokunaga, Norio Ozaki, Mari Yoshida, Shuji Iritani, Yasushi Iwasaki, Masashi Ikeda   +15 more
wiley   +1 more source

Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre. [PDF]

Acta Myol
Cesarone E, Picillo E, Scutifero M, Passamano L, Nigro V.   +4 more
europepmc   +1 more source

Vitamin D Status and Supplementation and the Functional Outcomes of Human Musculoskeletal Tissues: A Stratified Systematic Review

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aim This systematic review examined associations between vitamin D status and/or supplementation and functional outcomes (e.g., strength, performance, falls), with secondary reporting of biomechanical endpoints of human muscle, tendon, and bone.
Mohammad Soltani, Ali Fatahi, Fatemeh Heidari   +2 more
wiley   +1 more source

Chronic Pain: Epidemiology, Pathophysiology, and Clinical Management

MedComm, Volume 7, Issue 5, May 2026.
The multidimensional nature of chronic pain is illustrated through four interconnected domains. (Left) Epidemiology and Global Burden: Chronic pain affects approximately one in five individuals globally, contributing to a rising trend in disability‐adjusted life years (YLDs) and a significant socioeconomic impact.
Zhihao Shang, Zijiao Tian, Zhaoquan Wang, Zerui Yang, Ziyao Wang, Zikang Wang, Ziqing Wang, Xingyuan He, Yu Yan, Yuanfeng Gong, Siyuan Xu, Xinyi Li, Guihua Tian   +12 more
wiley   +1 more source

Impact of Home-Based Respiratory Physiotherapy in Nusinersen-Treated Patients with Spinal Muscular Atrophy. [PDF]

Adv Ther
Be'er M, Shperling L, Rochman M, Amirav I, Cahal M, Lavi R, Sadot E, Lior Y, Lavie M.   +8 more
europepmc   +1 more source

Assessing Internal States In Children With Neuromuscular Disorders Through An Oral Narrative Task. [PDF]

Clin Neuropsychiatry
Cristofani P, Ruffini C, Buchignani B, Astrea G, Noli B, Magozzi B, Pecini C, Battini R.   +7 more
europepmc   +1 more source