Essential tremor (ET) is the most prevalent movement disorder. It is unknown to what extent ET clusters within families, and the role of genetic susceptibility in etiology of ET has not been adequately investigated at the population level. The problem is largely methodological, with few well-designed studies. The Washington Height-Inwood Genetic Study of ET, begun in 1955, is designed to investigate the genetics of ET using a methodology that has not been applied to ET research to date. Part of the design includes a new set of clinical and electrophysiological diagnostic criteria for ET; the present paper describes this novel study design.
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http://dx.doi.org/10.1159/000109681 | DOI Listing |
Int J Pediatr Otorhinolaryngol
January 2025
Otorhinolaryngology Department, Faculty of Medicine, Menoufia University, Menoufia, Egypt; Medicine and Surgery Program, Menoufia National University, Menoufia, Egypt. Electronic address:
Purpose: Familial Mediterranean fever (FMF) is the most prevalent genetic autoinflammatory disease worldwide. There are several novel advancements in pathophysiology, genetic testing, diagnosis, comorbidities, disease-related damage, and treatment strategies. This study aimed to assess the effect of tonsillectomy on FMF disease severity and activity.
View Article and Find Full Text PDFAnn Intern Med
January 2025
Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, and Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Gac Med Mex
January 2025
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara.
Background: The usefulness of circulating free DNA (cfDNA), nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) as potential biomarkers in cancer remains controversial.
Objective: To determine the concentration of cfDNA and plasma nDNA and mtDNA levels in breast cancer (BC) patients.
Material And Methods: This study included a total of 86 women (69 patients with BC and 17 women as a control group).
Gac Med Mex
January 2025
School of Medicine, Pontificia Universidad Javeriana.
Background: In Colombia, gastric cancer is fifth in incidence (12.8 cases per 100,000) and third in mortality (9.9 cases per 100,000).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!