Results 41 to 50 of about 2,012 (138)

Rethinking Delivery Timing in Prenatally Diagnosed Spinal Muscular Atrophy: A Case Report With 2‐Year Follow‐Up

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective We describe the clinical course and outcome of a prenatally diagnosed infant with spinal muscular atrophy (SMA) treated immediately after early‐term birth and highlight considerations regarding delivery timing and neonatal management. Methods This male infant had a family history of SMA type 1A.
Emilie Groulx‐Boivin, Olivier Fortin, Simon Thebault, Unain Ansari, Victoria Nixon, Ariane Belzile, Richard Brown, Jarred Garfinkle, Maryam Oskoui   +8 more
wiley   +1 more source

Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis

Orphanet Journal of Rare Diseases
Background Spinal muscular atrophy (SMA) is a genetic neuromuscular disease associated with progressive loss of motor function. Risdiplam, a daily oral therapy, was approved in the United States for the treatment of SMA. Risdiplam’s effectiveness depends
Anish Patel, Walter Toro, Min Yang, Wei Song, Raj Desai, Mingchen Ye, Nadia Tabatabaeepour, Omar Dabbous   +7 more
doaj   +1 more source

Disease‐specific body composition patterns in children with cerebral palsy and spinal muscular atrophy

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Spinal muscular atrophy (SMA) and cerebral palsy (CP) are severe neurological conditions characterized by neurodegeneration and non‐progressive brain injury, respectively, both profoundly affecting the nutritional status in children.
Giulia Fiore, Sara Vizzuso, Ramona De Amicis, Barbara Borsani, Mireia Escudero‐Marín, Alessandra Mari, Francesca Destro, Hatim Azaryah, Chiara Mastella, Anna Mandelli, Laura Stabilini, Alessandra Bosetti, Francesca Izzo, Elena Zoia, Eleonora Bonaventura, Lorenzo Norsa, Davide Tonduti, Gloria Pelizzo, Cristina Campoy, Simona Bertoli, Gianvincenzo Zuccotti, Elvira Verduci   +21 more
wiley   +1 more source

Paradoxical increase of neurofilaments in SMA patients treated with onasemnogene abeparvovec-xioi

Frontiers in Neurology, 2023
Background/ObjectiveNeurofilament light chain (NfL) has been proposed as a biomarker reflecting disease severity and therapy response in children with spinal muscular atrophy type 1 and 2 (SMA1 and 2). The objective of this study was to examine how serum
Marina Flotats-Bastardas, Lisa Bitzan, Charlotte Grell, Kyriakos Martakis, Kyriakos Martakis, Benedikt Winter, Michael Zemlin, Claudia D. Wurster, Zeljko Uzelac, Claudia Weiß, Andreas Hahn   +10 more
doaj   +1 more source

The Impact of Common Medications on Male Fertility: An Updated Systematic Review

Andrology, EarlyView.
ABSTRACT Background Compared with those of cytotoxic treatments, the potential effects of common medications on the fertility of men trying to conceive currently or planning to conceive in the future are less well described. The use of common medications may modify the gonadotropic axis, spermatogenesis, and epididymal maturation or alter male ...
Lina Jebli, Salomé Gallissian, Roxanne Barèges, Félicia Fournier, Catherine Metzler‐Guillemain, Ségolène Prades, Fanny Magnan‐Sebag, Jeanne Perrin   +7 more
wiley   +1 more source

Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study

Neurology and Therapy
Introduction Risdiplam, an oral splicing modifier for the survival motor neuron-2 gene (SMN2), is approved for treating spinal muscular atrophy (SMA).
Kayoko Saito, Toshio Saito, Reiko Arakawa, Yasuhiro Takeshima, Hisahide Nishio, Yuka Ishikawa, Masahisa Katsuno, Takahiko Tsumuraya, Hiromitsu Kawata, Yuki Miyano, Hirofumi Komaki   +10 more
doaj   +1 more source

Diverging Safety Signals: A Trend Analysis of Suspected Adverse Drug Reactions Reporting for Spinal Muscular Atrophy Therapies in the European Union

Neurology International
Background/Objectives: The approval of disease-modifying therapies has significantly improved outcomes for patients with spinal muscular atrophy (SMA), yet their long-term safety profiles remain under continuous evaluation.
Andrej Belančić, Petar Mas, Ivana Stević, Dinko Vitezić, Slobodan Janković   +4 more
doaj   +1 more source

2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia

Frontiers in Pediatrics, 2021
Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored.
Fahad A. Bashiri, Fahad A. Bashiri, Mohamad-Hani Temsah, Mohamad-Hani Temsah, Khalid Hundallah, Fahad Alsohime, Fahad Alsohime, Yazed AlRuthia, Yazed AlRuthia   +8 more
doaj   +1 more source

Selective modulation of NaV channel gating counteracts aberrant hyperexcitability and rescues motor function and survival in a model of spinal muscular atrophy

British Journal of Pharmacology, EarlyView.
Background and Purpose Spinal muscular atrophy (SMA) is a motor neuron disease caused by SMN1 gene loss, leading to reduced survival motor neuron (SMN) protein and progressive motor neuron degeneration. Although SMN‐restoring therapies improve outcomes, residual disease burden and non‐curative efficacy underscore the need for complementary treatments ...
Fernanda C. Cardoso, Jessica A. I. Muller, Yougang Zhang, Jean Giacomotto   +3 more
wiley   +1 more source

Effectiveness and safety of Risdiplam for types 1–3 spinal muscular atrophy in a single center

BMC Neurology
Background Risdiplam has demonstrated efficacy in various types of 5q-spinal muscular atrophy (SMA) during clinical trials, yet real-world data remain limited.
Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li   +6 more
doaj   +1 more source