Purpose: To characterize current practices and attitudes regarding testing adolescents for carrier status.
Methods: Electronic survey of 294 genetic service providers from various professional organizations. Testing for predisposition and presymptomatic conditions was excluded from this study.
Results: Eighty-three percent of providers had received requests to test adolescents for carrier status. Of these, 84% have performed testing. Providers cited adolescent desire, sexual activity/pregnancy, and adolescent competence as the main reasons for testing. Some providers who performed testing found the current guidelines unhelpful.
Conclusion: Testing adolescents for carrier status is common for at least some conditions. The guidelines regarding genetic testing of adolescents may need to be updated to reflect current concerns and practices.
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http://dx.doi.org/10.1097/gim.0b013e3180306899 | DOI Listing |
J Cereb Blood Flow Metab
January 2025
Sheffield Institute for Translational Neuroscience, Division of Neuroscience, School of Medicine and Population Heath, University of Sheffield, Sheffield, UK.
Functional brain changes such as altered cerebral blood flow occur long before the onset of clinical symptoms in Alzheimer's disease (AD) and other neurodegenerative disorders. While cerebral hypoperfusion occurs in established AD, middle-aged carriers of genetic risk factors for AD, including APOE ε4, display regional hyperperfusion due to hypothesised pleiotropic or compensatory effects, representing a possible early biomarker of AD and facilitating earlier AD diagnosis. However, it is not clear whether hyperperfusion already exists even earlier in life.
View Article and Find Full Text PDFEnergy Clim Chang
December 2024
South China University of Technology, School of Future Technology, 777 Xingye Ave East, Panyu District, Guangzhou, Guangdong, 511442, China.
Hydrogen can be used as an energy carrier and chemical feedstock to reduce greenhouse gas emissions, especially in difficult-to-decarbonize markets such as medium- and heavy-duty vehicles, aviation and maritime, iron and steel, and the production of fuels and chemicals. Significant literature has been accumulated on engineering-based assessments of various hydrogen technologies, and real-world projects are validating technology performance at larger scales and for low-carbon supply chains. While energy system models continue to be updated to track this progress, many are currently limited in their representation of hydrogen, and as a group they tend to generate highly variable results under decarbonization constraints.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Neurology, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China.
Background And Objectives: The role of N-methyl-D-aspartate receptor 2B (GRIN2B) single nucleotide polymorphisms (SNPs) in influencing the risk and progression of Parkinson's disease (PD) is still unclear. This study aimed to assess the impact of GRIN2B genotype status on PD susceptibility and symptom progression.
Methods: We enrolled 165 individuals with sporadic PD and 154 healthy controls, all of whom had comprehensive clinical data available at the start and during follow-up.
J Nutr Sci Vitaminol (Tokyo)
January 2025
Centre for Advanced Medical Research and Training, Usmanu Danfodiyo University.
The nutritional status of fathers plays a significant role in influencing the growth, metabolism, and susceptibility to diseases in their offspring. Paternal zinc deficiency can lead to developmental programming effects on the offspring's zinc homeostasis. This study investigated the effects of paternal zinc deficiency on the zinc homeostasis of offspring in a Drosophila melanogaster (fruit fly) model.
View Article and Find Full Text PDFClin EEG Neurosci
January 2025
Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkiye.
. This study aims to characterize the clinical phenotype of a family with two siblings exhibiting neurological manifestations, utilizing whole exome sequencing (WES) to identify potential pathogenic variants within the gene. .
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