Data on 113,913 liveborn children from a hospital in Guadalajara, Jalisco (Mexico), were analysed for birth defects (BD); mutation rates were calculated for sporadic aneuploidy, chromosome aberrations and dominant gene mutations. The results showed a general incidence of 13.92 BD cases per 1000 liveborns, of which 1.64% were chromosomal abnormalities, 1.50% were aneuploid, 0.14% were structural chromosome aberrations and 3.23% were dominant gene mutations. The mutation rates were 8.20 x 10(-4) chromosomal abnormalities, 7.5 x 10(-4) aneuploidies, 7.0 x 10(-5) chromosome aberrations and 1.61 x 10(-3) dominant gene mutations/gamete/generation, respectively. The lethality rate was 15.32% of the liveborns with BD. The described findings estimate the incidence of new human mutants detected at birth in a sample of the Mexican population. They show that the rate for some aneuploidies are similar to those found in other populations previously reported in the literature but the rates of chromosome and dominant gene mutations were different.
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http://dx.doi.org/10.1016/0027-5107(90)90105-d | DOI Listing |
Funct Integr Genomics
January 2025
Department of Zoology, University of Gour Banga, Malda, 732103, India.
Rice (Oryza sativa L.), Poaceae family, forms staple diet of half of world's population, and brinjal (Solanum melongena L.), an important solanaceous crop, are consumed worldwide.
View Article and Find Full Text PDFFront Immunol
January 2025
Beijing Traditional Chinese Medicine Office for Cancer Prevention and Control, Xiyuan Hospital, China Academy of Chinese Medical Science, Beijing, China.
Background: The body of research on tumor-infiltrating lymphocytes (TILs) is expanding rapidly; yet, a comprehensive analysis of related publications has been notably absent.
Objective: This study utilizes bibliometric methodologies to identify emerging research hotspots and to map the distribution of tumor-infiltrating lymphocyte research.
Methods: Literature from the Web of Science database was analyzed and visualized using VOSviewer, CiteSpace, Scimago Graphica, R-bibliometrix, and R packages.
Heliyon
January 2025
Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay Batyr Ave 53, Astana, 010000, Kazakhstan.
Epilepsy is one of the most common neurological disorders affecting approximately 50 million people worldwide. It impacts people of all genders and ages, but evidence suggests a higher incidence rate in children and the elderly. Given that childhood epilepsy has the risk of causing developmental epileptic encephalopathy, which is associated with intellectual, behavioral, and/or motor disabilities, proper assessment of children with new-onset epilepsy at an early stage is essential to prevent threats affecting neurodevelopmental processes.
View Article and Find Full Text PDFCurr Microbiol
January 2025
Fisheries and Marine Resources Technology Discipline, Khulna University, Khulna, 9208, Bangladesh.
Infections caused by antibiotic-resistant bacteria (ARB) result in an estimated 1.27 million human deaths annually worldwide. Surface waters are impacted by anthropogenic factors, which contribute to the emergence and spread of ARB in the aquatic environment.
View Article and Find Full Text PDFTumori
January 2025
IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy.
Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome.
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