Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jand.2013.01.011 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.
Neurol Genet
December 2024
From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).
View Article and Find Full Text PDFHalf a Century's Quest for Seasonal Hyperacute Panuveitis (SHAPU): From Academic Curiosity to Public Health Concern.
Ocul Immunol Inflamm
January 2025
B.P. Eye Foundation, Hospital for Children Eye ENT and Rehabilitation Services (CHEERS), Bhaktapur, Nepal.
For the past 50 years, significant progress has been made in understanding Seasonal Hyperacute Panuveitis (SHAPU), a mysterious blinding disease first reported in Nepal in 1975. Predominantly affecting Nepalese children, SHAPU occurs cyclically every odd year from September to December. While initially misclassified as endophthalmitis, SHAPU is set apart by its lack of trauma or surgery, failure to grow organisms in most intraocular fluid cultures, and its hallmark presentation of a "white pupil in red eye" with an association with moth exposure.
View Article and Find Full Text PDFThe Grief of Older Parents Over the Loss of a Child: A Scoping Review.
Omega (Westport)
January 2025
Iranian Research Center on Aging, Department of Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Aging brings physical, psychological, and social changes, often accompanied by significant life events like the death of a loved one. One of the most devastating losses is the death of a child, which profoundly impacts older parents. This scoping review examines 47 studies on the effects of such grief, highlighting increased death anxiety, elevated mortality risk, psychological distress, and the role of social isolation in intensifying grief.
View Article and Find Full Text PDFMid-life anti-inflammatory metabolites are inversely associated with long-term cardiovascular disease events.
EBioMedicine
January 2025
University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Heart and Vascular Institute, UPMC, Pittsburgh, PA, USA.
Background: Preclinical data have shown that low levels of metabolites with anti-inflammatory properties may impact metabolic disease processes. However, the association between mid-life levels of such metabolites and long-term ASCVD risk is not known.
Methods: We characterised the plasma metabolomic profile (1228 metabolites) of 1852 participants (58.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!