Results 71 to 80 of about 155,497 (297)
DiagnosticsBackground/Objectives: Tears are a promising source of biomarkers reflecting both ocular and systemic conditions. However, small sample volumes and low cell yields pose technical challenges in analytical workflows.
Carmen Ciavarella +6 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu +5 more
wiley +1 more source
E-REABoth Yewande Omotoso’s An Unusual Grief (2022) and Onyi Nwabineli’s Someday, Maybe (2022) address the shattering effects of grief after the sudden and tragic loss of a loved one to suicide.
Cédric COURTOIS
doaj +1 more source
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Background While treat‐to‐target urate‐lowering therapy (ULT) is endorsed as best practice in gout management, limited data exist on its impact on health‐related quality of life (HRQoL). We assessed the impact of treat‐to‐target ULT on HRQoL among participants receiving protocolized gout care, identifying factors associated with HRQoL and HRQoL change.
Austin Barry +16 more
wiley +1 more source
Au cœur des services : les larmes au travail
Perspectives Interdisciplinaires sur le Travail et la Santé, 2000 For a long time it was assumed that emotions may be left at the door of the organisations. This excessively simplifies the complexity and heterogeneity of work, leading to an underestimation of the effects of work on health.
Angelo Soares
doaj +1 more source
Knee crepitus and osteoarthritis features in young adults following traumatic knee injury
Arthritis Care &Research, Accepted Article.Objective This study explored the association between knee crepitus and the presence, and worsening, of structural osteoarthritis features and self‐reported outcomes in young adults following traumatic knee injury. Methods One‐year following anterior cruciate ligament reconstruction (ACLR), 112 participants (41 female participants; median age 28 years)
Jamon L Couch +8 more
wiley +1 more source