Results 141 to 150 of about 1,143 (221)

Abstracts from the 2026 Congress of the Scandinavian Society of Anesthesiology and Intensive Care Medicine, Reykjavik, Iceland, June 10–12, 2026

Acta Anaesthesiologica Scandinavica, Volume 70, Issue 9, October 2026.
wiley   +1 more source

N‐Terminal Variant p.Ala2Val in X‐Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post‐Translational Modification and Nucleolar Localization

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Major symptoms of dyskeratosis congenita. Predicted nuclear localization site at N‐terminus of DKC1 protein. Comparison of nuclear localization for DKC1 showing normal localization for wild‐type versus disruption of localization for p.Ala2Val. ABSTRACT Background Dyskeratosis congenita (DKC) is typically characterized by the triad of abnormal cutaneous
Taimoor I. Sheikh, John B. Vincent
wiley   +1 more source

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]

BMC Neurol
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source

Novel Clinical and Neurophysiological Insights in Neonatal‐Onset 3‐Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
This report expands the limited available data on type VIII 3‐methylglutaconic aciduria (MGCA8), a neurodegenerative disorder which involves biallelic pathogenic variants of HTRA2 gene. The mutation of this gene leads to mitochondrial dysfunction and altered apoptosis regulation, especially in the brain.
Barbara Belmessieri, Sara Brunetti, Laura Malerba, Paola Martelli, Lucio Giordano, Massimo Plumari, Edoardo Errichiello, Patrizia Accorsi   +7 more
wiley   +1 more source

Postural Tremor Caused by Hirayama Disease Mimicking Essential Tremor. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Xie N, Sun Q, Yang G.
europepmc   +1 more source

Prevalence of Chronic Pain and Associated Factors Among Nursing Students in Heilongjiang Province, China: A Cross‐Sectional Study

Nursing Open, Volume 13, Issue 8, August 2026.
ABSTRACT Aim This study explored the prevalence and potential factors influencing chronic pain and provided increased theoretical and practical support for future studies on nursing students from a novel perspective. Design This study applied a cross‐sectional study design.
Siqi Liu, Yujin Xie, Zhengxi Chen, Xiwei Chen, Lei Cao, Yue Qin, Mei Yin, Yang Fu, Lei Shi   +8 more
wiley   +1 more source

Genotype-phenotype correlations in 18 European patients with heterozygous <i>KIF1A</i> variants: key considerations for assessing <i>KIF1A</i> variant causality. [PDF]

Front Med (Lausanne)
Uhrova Meszarosova A, Galiart E, Lassuthova P, Kolokotronis K, Seidl B, Musilova A, Peckova A, Takacsova A, Vyhnalkova E, Grecmalova D, Vlckova E, Skutilova V, Steindl K, Rauch A, Stettner GM, Safka Brozkova D.   +15 more
europepmc   +1 more source

Impact of Intermittent Positive Pressure Breathing on Thoracic Growth in Children With Type 1 Spinal Muscular Atrophy

Pediatric Pulmonology, Volume 61, Issue 8, August 2026.
ABSTRACT Introduction The emergence of new disease‐modifying treatments for type I spinal muscular atrophy (SMA I) has led to a paradigm shift in the respiratory management of these patients. Accompanying pulmonary and thoracic growth appears to be a key factor in their morbidity and mortality. The role of Intermittent Positive Pressure Breathing (IPPB)
Charlotte Thébault, Sophie Denamur, Gilles Thomas, Audrey Barzic, Elsa Schwartz, Maëlle Dupuis, Marie‐Christine Nougues, Arnaud Isapof, Guillaume Aubertin, Jessica Taytard   +9 more
wiley   +1 more source

Using Latent Representations to Link Disjoint Longitudinal Data for Mixed‐Effects Regression

Statistics in Medicine, Volume 45, Issue 18-19, August 2026.
ABSTRACT Many rare diseases offer limited established treatment options, leading patients to switch therapies when new medications emerge. To analyze the impact of such treatment switches within the low sample size limitations of rare disease trials, it is important to use all available data sources.
Clemens Schächter, Maren Hackenberg, Michelle Pfaffenlehner, Félix B. Tambe‐Ndonfack, Thorsten Schmidt, Astrid Pechmann, Janbernd Kirschner, Jan Hasenauer, Harald Binder   +8 more
wiley   +1 more source

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series. [PDF]

Eur J Pediatr
Piastra M, Zito G, Orr AM, Picconi E, Ferrari V, Pezza L, Marzano L, Morena TC, De Rosa G, Onesimo R, Fedele MC, Tempera A, Genovese O, Racca F, Varone A, Spinazzola G, De Luca D, De Sanctis R, Pane M, Mercuri E, Conti G.   +20 more
europepmc   +1 more source