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Cross-trait multivariate GWAS confirms health implications of pubertal timing.
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 PDFClinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.
Transl Pediatr
December 2024
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.
View Article and Find Full Text PDFMarginal mandibular branch of the facial nerve - anatomical peculiarities and clinical aspects.
Folia Morphol (Warsz)
January 2025
Department of Oral and Maxillofacial Surgery and Oral Implantology "Arsenie Gutan", Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, Republic of Moldova.
Background: The expanding number of parotid ablations, reconstructive and aesthetic surgeries of the head and neck, considerably increased the risk of the marginal mandibular branch (MMB) injury. The purpose of our study was to determine the anatomical peculiarities of the MMB depending on the facial nerve branching pattern (FNBP), gender and cephalometric type.
Materials And Methods: The MMB was dissected on 75 hemiheads of adult embalmed cadavers.
Inhibition of emotional faces in clinical and subclinical depression.
J Psychiatr Res
January 2025
Department of Psychology, University of Stirling, Stirling, FK9 4LA, UK.
Impaired inhibition of emotional material is an important cognitive component of depression. The current aim was to determine if participants with major depression (MDD) and/or subclinical depression (dysphoria) exhibit impaired inhibition of sad faces on a face-word variant of the Stroop task. Study 1: patients with MDD (n = 28) and healthy controls (n = 32) were presented with positive and negative words superimposed across happy, sad, and neutral faces.
View Article and Find Full Text PDFThe evolving threat of new pathogen variants in the face of global environmental changes poses a risk to a sustainable crop production. Predicting and responding to how climate change affects plant-pathosystems is challenging, as environment affects host-pathogen interactions from molecular to the community level, and with eco-evolutionary feedbacks at play. To address this knowledge gap, we studied short-term within-host eco-evolutionary changes in the pathogen, , on resistant and susceptible pepper in the open-top chambers (OTCs) under elevated Ozone (O) conditions in a single growing season.
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