During investigation of HLA types among children exposed to diphenylhydantoin (DPH) in utero, we found no evidence of a distortion in haplotype sharing among affected sib pairs. Unexpectedly, however, we found a marked increase in the proportion of all sib pairs (not just affected ones) sharing maternal haplotypes. Among 14 two child families, 12 shared the maternal haplotype (expected would be seven); among families with more than two children the distortion was also pronounced. This finding, if verified in future studies, could indicate that something in the mothers, whether DPH use during pregnancy, or some genetic factor associated with seizures, or some effect of the seizures themselves, may be leading to non-random segregation of HLA haplotypes in their offspring.
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http://dx.doi.org/10.1136/jmg.25.10.698 | DOI Listing |
Nat Commun
January 2025
Laboratory of Molecular Translational Medicine, Center for Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, China.
Pubertal timing is highly variable and is associated with long-term health outcomes. Phenotypes associated with pubertal timing include age at menarche, age at voice break, age at first facial hair and growth spurt, and pubertal timing seems to have a shared genetic architecture between the sexes. However, puberty phenotypes have primarily been assessed separately, failing to account for shared genetics, which limits the reliability of the purported health implications.
View Article and Find Full Text PDFReprod Sci
January 2025
Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Medical School, Fudan University, Shanghai, 200237, China.
The maintenance of early pregnancy is a complex and distinctive process, primarily characterized by critical reproductive events such as embryo implantation, trophoblasts differentiation, decidualization, and extravillous trophoblasts (EVTs) invasion etc. However, dysregulation of these essential reproductive processes can result in various pregnancy complications, including recurrent miscarriage, preeclampsia, and fetal growth restriction etc. Notably, these complications exhibit an interconnected regulatory network that suggests shared underlying pathophysiological mechanisms.
View Article and Find Full Text PDFJ Evol Biol
January 2025
School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, NR4 7TJ, UK.
In ovipositing animals, egg placement decisions can be key determinants of offspring survival. One oviposition strategy reported across taxa is laying eggs in clusters. In some species, mothers provision eggs with diffusible defence compounds, such as antimicrobials, raising the possibility of public good benefits arising from egg clustering.
View Article and Find Full Text PDFMod Rheumatol
January 2025
Inflammation and Immunology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto-shi, Kyoto, 602-8566, Japan.
Objectives: To update the Japan College of Rheumatology Clinical Practice Guidelines for the Management of Rheumatoid Arthritis (CPG for RA).
Methods: The recommendations were developed based on the evidence published until the end of June 2022 using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE). The steering committee, CPG panel, systematic review (SR) group, and SR support team were organised.
Sci Rep
January 2025
Animal Health, ICAR-National Research Centre on Pig, Rani, Guiwahati, 781131, Assam, India.
This research aimed to characterize the mitochondrial genome of the Ghoongroo (GH) pig, a notable breed in India, along with its crossbred varieties, to elucidate their matrilineal components, evolutionary history, and implications for conservation. Seven pigs (5 GH, 2 crossbred, namely Rani and Asha) were sequenced for complete mitochondrial genome, while 24 pigs (11 GH, 6 Rani, and 7 Asha) were sequenced for the complete D-loop of the mitochondrial genome. The genome size of these pigs was determined to be 16,690 bp.
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