The results from the research into the association between polymorphisms of genes-candidates for individual radiosensitivity and the frequency and spectrum of cytogenetic abnormalities are analyzed. The study was conducted among Siberian Group of Chemical Enterprises healthy employees exposed to professional irradiation in a dose range of 100-300 mSv. Genotyping of DNA samples from 96 employees was carried out by oligonucleotide microarray: "Cancer_SNP_Panel GT-17-211" ("Illumina") containing 1, 421 SNP-markers (Single Nucleotide Polymorphisms) of 406 genes. The standard cytogenetic analysis was performed in the entire examined group. We have also analyzed the association of these SNP with the frequencies of aberrant cells and following chromosomal aberrations: single chromatid fragments, chromatid exchanges, paired fragments, dicentric, ring and frequencies, translocations. We have found that 40 SNP (rs1800389, rs1051690, rs2392221, rs1041163, rs2114443, rs6083, rs1760904, rs4986894, rs488133, rs7462102, rs11249938, rs34206126, rs33945943, rs34324628, rs5742694, rs978458, rs5742667, rs2373721, rs2162679, rs889162, rs2233679, rs2010457, rs2873950, rs1574154, rs10934500, rs4688046, rs10934503, rs4624596, rs2288729, rs4227, rs1367696, rs751087, rs1269486, rs1149901, rs1800404, rs887477, rs696405, rs751087, rs81 92284, rs312016) are associated with the frequency of different types of chromosomal abnormalities (p-value with FDR of Benjamini-Hochberg--equal less than 0.05). 24 SNP (underlined) are associated with more than one type of chromosome abnormalities. In the future, we are going to confirm the results in further studies on the cohort of more than 600 persons.
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http://dx.doi.org/10.7868/s0869803113020069 | DOI Listing |
Mol Biol Evol
January 2025
Department of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85721, USA.
Low-pass genome sequencing is cost-effective and enables analysis of large cohorts. However, it introduces biases by reducing heterozygous genotypes and low-frequency alleles, impacting subsequent analyses such as model-based demographic history inference. Several approaches exist for inferring an unbiased allele frequency spectrum (AFS) from low-pass data, but they can introduce spurious noise into the AFS.
View Article and Find Full Text PDFJ Acquir Immune Defic Syndr
January 2025
Department of Psychiatry and Behavioral Sciences, Weill Institute for Neurosciences, University of California-San Francisco, School of Medicine, San Francisco, California 675 18th Street, San Francisco, CA 94107.
Background: People with schizophrenia spectrum disorders are at elevated risk of HIV, and people with both HIV and schizophrenia are at elevated risk of death compared to individuals with either diagnosis alone. Limited research has assessed the HIV care cascade, and in particular retention in care, among people with HIV (PWH) and schizophrenia in the U.S.
View Article and Find Full Text PDFSports Med Open
January 2025
Department of Physical Education, Tongji University, Shanghai, 200000, China.
Background: While the effects of sleep deprivation on cognitive function are well-documented, its impact on high-intensity endurance performance and underlying neural mechanisms remains underexplored, especially in the context of search and rescue operations where both physical and mental performance are essential. This study examines the neurophysiological basis of sleep deprivation on high-intensity endurance using electroencephalography (EEG). In this crossover study, twenty firefighters were subjected to both sleep deprivation (SD) and normal sleep conditions, with each participant performing endurance treadmill exercise the following morning after each condition.
View Article and Find Full Text PDFVet Res Commun
January 2025
Department of Veterinary Medicine and Animal Sciences, University of Milan, Lodi, 26900, Italy.
South American camelids (SACs), particularly llamas (Lama glama) and alpacas (Vicugna pacos) are gaining popularity in Europe. Initially valued for their fiber and land management capabilities, these animals are now also kept for animal therapy, outdoor activities, and as companion animals. Despite their close interactions with humans and other animals, there is limited research on the transmission of microbes or antimicrobial resistance genes from SACs.
View Article and Find Full Text PDFHernia
January 2025
Center for Perioperative Optimization, Department of Surgery, Herlev Hospital, University of Copenhagen, Herlev, Denmark.
Purpose: The AFTERHERNIA Project aims to shift the focus of hernia surgery towards patient-reported outcomes by examining the impact of surgical methods and long-term complications on a national level. Groin and ventral hernia repairs are common surgical procedures with significant impact on patient quality of life and healthcare costs. Most large-scale studies focus on clinical outcomes like reoperation and readmission rates, rather than patient-reported outcomes.
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