Results 21 to 30 of about 32,855 (128)

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

Zika Virus Inoculation During Pregnancy Impaired Maternal Care and Altered Prolactin and Corticosterone Levels in Rats

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Zika virus (ZIKV) is an Orthoflavivirus known for its teratogenicity and for causing congenital Zika syndrome (CZS) in the offspring, but recent studies suggest a negative impact on maternal brain health and behavior following gestational ZIKV inoculation.
Meirylanne Gomes‐da‐Costa, Adriana Souza dos Santos, Anna Luísa Lothhammer Bohn, Bruna Carolina de Castro Saturnino, Gabrielle Batista de Aguiar, Gabriela Barth Jacobs, Chris Krebs Danilevicz, Ana Paula Muterle Varela, Thais Fumaco Teixeira, Paulo Michel Roehe, Lenir Orlandi Pereira   +10 more
wiley   +1 more source

Measures of Juvenile Fibromyalgia: Pain and Symptom Assessment Tool (PSAT), PROMIS® Pain Interference, Anxiety and Depression scales, Functional Disability Inventory (FDI) and Pediatric Quality of Life (PedsQL) 3.0 Rheumatology Module

Arthritis care & research, 2020
Juvenile fibromyalgia (JFM) is a chronic and debilitating noninflammatory musculoskeletal pain syndrome that is typically diagnosed in adolescence. There are no specific medical tests or disease markers to diagnose the condition, and classification is ...
Morgan Daffin, Robert C. Gibler, S. Kashikar-Zuck   +2 more
semanticscholar   +1 more source

Effectiveness of a Low‐Intensity Self‐Guided Psychoeducational Intervention for Individuals Waitlisted for Specialised Eating‐Disorder Treatment: A Randomised Controlled Trial

European Eating Disorders Review, Volume 34, Issue 4, Page 1089-1098, July 2026.
ABSTRACT Objective Gaining access to evidence‐informed treatment for eating disorders (EDs) is challenging, and this creates interest in the possible benefits of self‐help treatment methods. We investigated the effectiveness of receiving evidence‐informed self‐guided psychoeducation, delivered to individuals while on a waitlist for specialised ED care.
Linda Booij, Barbara Barth, Micaël Thériault, Bronwyn Raykos, Peter McEvoy, Howard Steiger   +5 more
wiley   +1 more source

Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?

Clinical and Public Health Guidelines, Volume 3, Issue 3, July 2026.
ABSTRACT Introduction Developing Clinical Practice Guidelines (CPGs) is resource‐intensive, making it essential to prioritise those CPG projects that are most needed. One of the rules pertains to prevalence, which excludes virtually all guideline development for rare diseases. Still, guidance is needed for their management.
Iméze J. Hieltjes, Charlotte M. W. Gaasterland, Marieke Hermsen, Anne Marie van Wermeskerken, Ilse van Herk, Johanna H. van der Lee   +5 more
wiley   +1 more source

The B-lymphoblastoid model in Barth syndrome.

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
Barth Syndrome (BTHS) is an ultra-rare, X-linked mitochondrial disorder caused by a variety of different mutations in the cardiolipin remodeling gene TAFAZZIN that results in cardiac and skeletal myopathy, as well as immunological deficits.
John Z Chan, M. Tomczewski, Antonia N Berdeklis, R. E. Duncan   +3 more
semanticscholar   +1 more source

Aberrant TMPRSS6‐Protease Regulation of Disease Mutant HCN4–KCNE1 Channel Complex Depends on the KCNE1‐G38S Polymorphism

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
TMPRSS6‐mediated cleavage of the HCN4–KCNE1 channel complex may modulate disease phenotype in a KCNE1 genotype‐dependent manner. ABSTRACT The sinoatrial node pacemaker channel HCN4 plays a central role in cardiac automaticity, and disease‐associated variants can predispose to atrial arrhythmias.
David Linhoff, Minay Mertens, Ricarda Zimmermann, Stefan Peischard, Christoph Brenker, Thomas Budde, Sven Meuth, Christos Gatsogiannis, Annika Lüttjohann, Liudmila Sosulina, Jürgen Hescheler, Nathalie Strutz‐Seebohm, Guiscard Seebohm   +12 more
wiley   +1 more source

Validation of the Chinese Version of the 16-Item Negative Symptom Assessment

Neuropsychiatric Disease and Treatment, 2020
Purpose The Negative Symptom Assessment-16 (NSA-16) is an instrument with significant validity and utility for assessing negative symptoms associated with schizophrenia. This study aimed to validate the Chinese version of the NSA-16. Patients and Methods
Bingjie Huang, Yong Wang, Qi Miao, Xin Yu, Chengcheng Pu, C. Shi   +5 more
semanticscholar   +1 more source

Evaluating Continuous Glucose Monitoring (CGM) Derived Glucose Variability in Athletes Clinically Diagnosed With Relative Energy Deficiency in Sport (REDs)

European Journal of Sport Science, Volume 26, Issue 6, June 2026.
ABSTRACT Relative Energy Deficiency in Sport (REDs) is a multifactorial condition with significant long‐term health and performance implications. Acute low energy availability (LEA) may suppress glucose levels, particularly nocturnally; however, this has not been investigated in athletes with clinically diagnosed REDs.
Penelope A. Matkin‐Hussey, Dane F. Baker, Gregory R. Cox, Vernon Coffey, Amy‐Lee Bowler, Sarah Beable, Megan Ogilvie, Katherine E. Black   +7 more
wiley   +1 more source

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

Orphanet Journal of Rare Diseases, 2019
BackgroundBarth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy.
B. Hornby, Rebecca McClellan, L. Buckley, K. Carson, Tiffany Gooding, H. Vernon   +5 more
semanticscholar   +1 more source