Average consanguinity (alpha) of 20 large regional or national samples derived from Roman Catholic Dispensations or state archives shows a strong negative relationship with latitude (r = -0.738; P less than 0.001) which seems best explained by cultural-historical factors. Isolates show no such pattern and are more variable in their inbreeding levels. Two-way analysis of variance shows the sample division by population size to be significant, the division by geography to be not significant, with no significant interaction between the two factors. In a one-way analysis of variance only the mainstream samples showed significant geographic differences (P less than 0.001). There is no such geographic association in Japan which has greater cultural and historical homogeneity. The clinical patterning in average consanguinity may bias frequency estimates of rare alleles, including genetic disorders.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1080/03014468600008541 | DOI Listing |
J Neurol
December 2024
Department of Pediatric Neurology, Centre for Neuromuscular Disorders, C-TNBS, University Duisburg-Essen, Essen, Germany.
Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.
View Article and Find Full Text PDFHealthcare (Basel)
October 2024
Department of Pharmacy, King Khalid University Hospital, P.O. Box 7805, Riyadh 11472, Saudi Arabia.
Sickle cell anemia (SCD) is a relatively uncommon health condition in many countries, but it is prevalent in Saudi Arabia mainly due to the high incidence of consanguineous marriages. Regrettably, there are elevated rates of vaso-occlusive crises (VOCs) and blood transfusions, leading to poor quality of life and significant financial strain. This study aimed to assess the frequency of blood transfusions, out-of-pocket expenditures (OOPEs), and health-related quality of life (HRQoL) in SCD patients.
View Article and Find Full Text PDFOrphanet J Rare Dis
October 2024
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil.
Arch Endocrinol Metab
October 2024
Universidade Estadual de Campinas Faculdade de Ciências Médicas e Hospital de Clínicas Departamento de Pediatria CampinasSP Brasil Departamento de Pediatria, Faculdade de Ciências Médicas e Hospital de Clínicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and analyze their clinical and molecular characteristics.
Subjects And Methods: The study included all patients with a clinical presentation of WS following up between 1991 and 2022 with early-onset diabetes mellitus and other WS signs and symptoms. A retrospective analysis was conducted, including patients' age, sex, consanguinity, age at symptom onset, diagnosis of diabetes mellitus, optic atrophy, diabetes insipidus, neurological and psychiatric disorders, hearing loss, urinary disorders, hypogonadism, and molecular analysis.
PLoS One
September 2024
North Medical Tower Hospital, Arar, Saudi Arabia.
Childhood and adolescent overweight and obesity are one of the most serious public health challenges of the 21st century. A range of genetic, family, and environmental factors, and health behaviors are associated with childhood obesity. Developing models to predict childhood obesity requires careful examination of how these factors contribute to the emergence of childhood obesity.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!