Results 101 to 110 of about 1,143 (221)

A detailed analysis of the effects of body parameters on motor function and fine motor skills measured at one-year intervals in patients with spinal muscular atrophy. [PDF]

BMC Pediatr
Gajewska E, Sobieska M, Bieniaszewska A, Sowińska A, Michalska J, Steinborn B.   +5 more
europepmc   +1 more source

Ferroptosis: Newly Emerged Regulator for Human Disease

MedComm, Volume 7, Issue 9, September 2026.
Ferroptosis is a key regulated cell death pathway closely involved in cancers, neurodegenerative disorders, acute organ injuries, and cardiovascular and chronic metabolic diseases, representing a promising therapeutic target for diverse human illnesses.
Dandan Xiao, Lin Ye, Tianqi Jiang, Mengyuan Liu, Yuxia Zhou   +4 more
wiley   +1 more source

Administration practice and adherence of nusinersen in adults with 5q-spinal muscular atrophy in China: an ambispective multicenter study. [PDF]

BMC Neurol
Yao X, Dai Y, Zhu W, Zhao Y, Shang H, Meng Q, Liu Y, Yu L, Hong D, Chen J, Shen L, Chen W, Chen K, Zhang L, Mai M, Cui L.   +15 more
europepmc   +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study. [PDF]

Clin Genet
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Batista EC, Zanoteli E, Fonseca HAR, Polido GJ, Saute JAM, Ortega AB, Junior MCF, Oliveira ASB, de Souza PVS, Giannetti JG, Pessoa ALS, de Queiroz Campos Araújo AP, Neves MFT, da Silva RTB, Monfardini F, Dos Santos GP, Dos Santos Sampaio B, Moia DF, Júnior FG, de Piano LPA, de Albuquerque CSN, Duarte FM, Aparecida Rodrigues Sant'Anna V, Pereira M, de Bortoli Livramento J, Vicente Pereira Soares R, Pedrosa DA, Teich V, Rizzo LV, Berwanger O, de Andrade JBC, Silva GS.   +31 more
europepmc   +2 more sources

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Serum creatinine to cystatin C ratio as a biomarker for monitoring motor-function in children with spinal muscular atrophy treated with nusinersen: a retrospective cohort study. [PDF]

BMC Neurol
Zhang YY, Wang J, Cui ZQ, Ma K.
europepmc   +1 more source

Impact of Institutional Protocol on Urinary Catheter Outcome Measures in Orthopedic Children Treated With Epidural Analgesia

Pediatric Anesthesia, Volume 36, Issue 9, Page 1089-1095, September 2026.
ABSTRACT Background Epidural analgesia is commonly used for pain control after major lower‐limb orthopedic surgery in children, but it is associated with a risk of postoperative urinary retention. Consequently, urinary catheters are often placed and left in situ for the full duration of epidural analgesia, despite the potential risks of prolonged ...
Idan Katz, Tomer Talmy, Dor Barami, Tal S. Beckmann, Barry Danino, Yotam Lior, Margaret Ekstein   +6 more
wiley   +1 more source

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3. [PDF]

Eur J Pediatr
Rochman M, Shay Levanon D, Amirav I, Be'er M, Cahal M, Besor O, Fattal-Valevski A, Lavie M.   +7 more
europepmc   +1 more source

Prenatal Genomics for Sonographers: Enhancing Confidence, Communication, and Clinical Care

Sonography, Volume 13, Issue 3, September 2026.
ABSTRACT Genomic medicine is advancing rapidly, bringing significant changes to prenatal care and expanding the role of health professionals. As clinicians responsible for performing prenatal ultrasounds which may detect fetal anomalies and ultimately lead to genetic diagnoses, sonographers should have an understanding of genomic concepts to support a ...
Deborah Wye, Laura Gerhardy, Noha Elserafy   +2 more
wiley   +1 more source

Hirayama Disease in a Young Male: A Case Report. [PDF]

JNMA J Nepal Med Assoc
Paudel S, Rokaha PS, Rokaha PS, Karki L, Thapa P.   +4 more
europepmc   +1 more source