In a Spanish region with a population of one million, we screened 371 mentally retarded males, who had no previous diagnosis for fragile X [fra(X))] syndrome. Fifty-three of the 371 males were fra(X) positive. Of these 44 of 362 or 12.1% were unrelated. Family studies identified a large number of obligate carriers and women at risk for being carriers who were given genetic counseling including prenatal diagnostic information. Considering the age of the carriers and the fertility rate, 23 affected males could be born to these women. The prevention potential of this program suggests that it is highly cost-effective.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320430151 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A systematic review of reports on aquatic envenomation: are there global hot spots and vulnerable populations?
J Venom Anim Toxins Incl Trop Dis
December 2024
Department of Tropical Medicine, Medical Microbiology and Pharmacology, John A. Burns School of Medicine, University of Hawai'i at Mānoa, Honolulu, Hawaii, United States.
Envenomation by aquatic species is an under-investigated source of human morbidity and mortality. Increasing population density along marine and freshwater coastlines increases these incidents. Specific occupational groups - including commercial fishery workers, fisherfolk, marine tourism workers, and researchers - rely on aquatic resources for their livelihood.
View Article and Find Full Text PDFThe HIPRA-HH-2 was a multicentre, randomized, active-controlled, double-blind, non-inferiority phase IIb clinical trial comparing the immunogenicity and safety of the PHH-1V adjuvanted recombinant vaccine as a heterologous booster against homologous booster with BNT162b2. Interim results demonstrated strong humoral and cellular immune response against the SARS-CoV-2 Wuhan-Hu-1 strain and the Beta, Delta, and Omicron BA.1 variants up to day 98 post-dosing.
View Article and Find Full Text PDFRacial/Ethnic inequality & contemporary disparities in mortgage lending.
PLoS One
January 2025
Department of Sociology, The Ohio State University, Columbus, Ohio, United States of America.
Research over the past two decades has noted significant racial/ethnic wealth inequalities-inequalities with important implications for life chances and institutional access. Home ownership is as a foundational element of such inequality with broad consequences for exposure to crime, quality of public safety services, and access to healthcare, education, and employment. Building on earlier scholarship that has tended to focus on specific forms of mortgages, we draw in this article on over 1.
View Article and Find Full Text PDFEpidemiological trends and healthcare disparities in onychomycosis: An analysis of the All of Us research program.
PLoS One
January 2025
Division of Dermatology, Department of Medicine, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Onychomycosis is a common, difficult to treat nail disorder. Our objective was to explore disparities in current clinical management practices for onychomycosis in patients from underrepresented groups and with specific comorbidities. We conducted a cross-sectional study using the All of Us (AoU) research program.
View Article and Find Full Text PDFKnowledge and Use of Menthol-Mimicking Cigarettes Among Adults in the US.
JAMA Netw Open
January 2025
Division of Intramural Research, National Institute on Minority Health and Health Disparities, Bethesda, Maryland.
Importance: Cigarette companies have been introducing synthetic cooling agent menthol-mimicking cigarettes into the US marketplace as menthol cigarette bans are implemented. These cigarettes may reduce the public health benefits of menthol cigarette bans.
Objective: To examine the epidemiology of the use of synthetic cooling agent menthol-mimicking cigarettes among adults in the US.
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!