Results 1 to 10 of about 6,842,722 (107)

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado-Joseph Disease Presenting as Charcot-Marie-Tooth Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We report a 60‐year‐old Chinese woman with Machado–Joseph disease (MJD/SCA3), initially managed as Charcot–Marie–Tooth disease due to distal sensory loss, pes cavus, and areflexia. Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary ...
Lim ECN, Lim CED.
europepmc   +3 more sources

Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia, Laura Kus, Erika Sipos, Nathaniel Heintz, Kert Mätlik   +4 more
wiley   +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

Thermophysiological and perceptual responses to exercise heat stress in people with cystic fibrosis on Elexacaftor/Tezacaftor/Ivacaftor

Experimental Physiology, EarlyView.
Abstract The objective of this study was to investigate thermophysiological and perceptual responses to exercise heat stress in people with cystic fibrosis (pwCF) on Elexacaftor/Tezacaftor/Ivacaftor (ETI) versus healthy controls, and to explore their lived experiences of heat stress.
Lauren J. Clayton, Jo Corbett, Anthony I. Shepherd, Heather Massey, Don S. Urquhart, Neil Maxwell, Gary Connett, Mark Allenby, Julian Legg, Thomas Daniels, Zoe L. Saynor   +10 more
wiley   +1 more source

Persistent endothelial dysfunction is associated with exercise intolerance in adults despite preserved myocardial work 3 years after SARS‐CoV‐2 infection

Physiological Reports, Volume 14, Issue 19, October 2026.
Adults with Long COVID exhibited impaired aerobic capacity and persistent endothelial dysfunction despite preserved myocardial function approximately 3 years after SARS‐CoV‐2 infection. The association between flow‐mediated dilation (FMD) and exercise capacity suggests a potential contribution of peripheral vascular dysfunction to exercise intolerance.
Carla Cristina de Araújo Alves, Cássia da Luz Goulart, Luciana D'Ávila, Beatriz Helena Ernesto de Souza Silva, Igor Machado Alves, Brena Vitória Souza Aguiar, Claudia Conde, Ricardo Stein, Gerson Cipriano Jr.   +8 more
wiley   +1 more source

Availability of Cancer Screening Across HIV Treatment Sites in the IeDEA Consortium

International Journal of Cancer, Volume 159, Issue 6, Page 1477-1489, 15 September 2026.
In recent years, incorporating comprehensive cancer screening strategies into routine HIV care has gained growing attention. This survey of 220 sites providing HIV care across 41 countries shows that cervical cancer screening has increased in availability over time.
Rachael A. Pellegrino, Bryan E. Shepherd, Sanjay Pujari, Valeria Fink, Gad Murenzi, Miriam Nakalembe, Sally B. Coburn, Eliane Rohner, Antoine Jaquet, Caroline Lade, Brenda Crabtree Ramirez, Kathryn Anastos, Aggrey Semeere, Lesley S. Park, Limpho Mokone, Simon Boni, I Ketut Agus Somia, Emilia M. Jalil, Adebola Adedimeji, Omenge Orang'o, Michael J. Silverberg, Kumbirai Pise Quarter, Eugène Messou, Jeremy Ross, Eduardo Gotuzzo, Patricia Lelo, Helen Byakwaga, Oliver Ezechi, Jonathan Euvrard, Fernanda Maruri, Chad J. Achenbach, Jessica L. Castilho, on behalf of International epidemiology Databases to Evaluate AIDS (IeDEA)   +32 more
wiley   +1 more source

Mechanistic role of biochar as a geobiochemical amendment: Mitigating abiotic stress and enhancing soil–plant interactions

Soil Science Society of America Journal, Volume 90, Issue 5, September/October 2026.
Abstract Abiotic stressors, including drought, salinity, and heavy metal contamination, pose escalating threats to global food security, challenges further exacerbated by climate change and progressive soil degradation. As a strategic geochemical amendment, biochar is increasingly proposed to enhance soil resilience and agricultural sustainability ...
Waqas Haider, Qudrat Ullah, Muhammad Qasim, Md. Nahid Mahmud, Irfan Haidri, Muhammad Ali Amir, Rashid Abbas Khan, Tauqeer Ahmed Qadri, Amjid Khan   +8 more
wiley   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1370-1378, July 2026.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Two Decades of DNA Methylation Shifts Reveal Epigenomic Responses to Environmental Change in Wild Salmo salar From Its Southernmost Populations

Molecular Ecology, Volume 35, Issue 13, July 2026.
ABSTRACT Atlantic salmon (Salmo salar) populations have been declining across the North Atlantic, with southern populations, including those in rivers draining into the southwestern Bay of Biscay, showing some of the strongest impacts. These rivers mark the species' southernmost distribution limit and are highly vulnerable to global change stressors ...
Alvaro Gutierrez‐Rodriguez, Carmen Blanco‐Fernandez, Eva Garcia‐Vazquez, Gonzalo Machado‐Schiaffino   +3 more
wiley   +1 more source

The psychological experience of living at risk of an autosomal dominant neurological condition: A scoping review

Alzheimer's &Dementia: Behavior &Socioeconomics of Aging, Volume 2, Issue 2, June 2026.
Abstract As our understanding of genetic risk and the availability of genetic testing increases, consideration of the psychological impact of living at risk for an autosomal dominant neurological condition (ADNC) becomes more pertinent. A systematic search of PsycINFO, MEDLINE, and Web of Science was run to identify studies exploring the psychological ...
Rhianna Brien, Simon Mead, Marc Tibber, Edgar Chan   +3 more
wiley   +1 more source