Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.
J Assist Reprod Genet
January 2025
Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Genetics, Reproduction and Development, Centre for Medical Genetics, Laarbeeklaan 101, 1090, Brussels, Belgium.
Purpose: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis.
View Article and Find Full Text PDFRethinking the residual approach: leveraging statistical learning to operationalize cognitive resilience in Alzheimer's disease.
Brain Inform
January 2025
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.
Cognitive resilience (CR) describes the phenomenon of individuals evading cognitive decline despite prominent Alzheimer's disease neuropathology. Operationalization and measurement of this latent construct is non-trivial as it cannot be directly observed. The residual approach has been widely applied to estimate CR, where the degree of resilience is estimated through a linear model's residuals.
View Article and Find Full Text PDFThe BLM-TOP3A-RMI1-RMI2 proximity map reveals that RAD54L2 suppresses sister chromatid exchanges.
EMBO Rep
January 2025
Department of Biochemistry, University of Toronto, 1 King's College Circle, Toronto, ON, M5S 1A8, Canada.
Homologous recombination is a largely error-free DNA repair mechanism conserved across all domains of life and is essential for the maintenance of genome integrity. Not only are the mutations in homologous recombination repair genes probable cancer drivers, some also cause genetic disorders. In particular, mutations in the Bloom (BLM) helicase cause Bloom Syndrome, a rare autosomal recessive disorder characterized by increased sister chromatid exchanges and predisposition to a variety of cancers.
View Article and Find Full Text PDFSleeve Gastrectomy and Gastric Bypass Impact in Patient's Metabolic, Gut Microbiome, and Immuno-inflammatory Profiles-A Comparative Study.
Obes Surg
January 2025
Coimbra Institute for Clinical and Biomedical Research (iCBR) Area of Environment, Genetics and Oncobiology (CIMAGO), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Background: Bariatric surgery is the most long-term effective treatment option for severe obesity. The role of gut microbiome (GM) in either the development of obesity or in response to obesity management strategies has been a matter of debate. This study aims to compare the impact of two of the most popular procedures, sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (GB), on metabolic syndrome parameters and gut bacterial microbiome and in systemic immuno-inflammatory response.
View Article and Find Full Text PDFEffect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae infection.
Eur J Pediatr
January 2025
Department of Pediatrics, Ganzhou People's Hospital, No. 16 Meiguan Avenue, Zhanggong District, Ganzhou, 341000, Jiangxi Province, China.
Unlabelled: This research aimed to describe the effect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae (MP) infection. This study was a retrospective analysis in which 110 children with chronic cough caused by MP infection were divided into two groups based on different treatment methods: 58 cases in the control group treated with azithromycin dry suspension and 52 cases in the intervention group treated with azithromycin dry suspension and fluticasone propionate inhalation aerosol. Lung function, inflammatory factors, immune indicators, laboratory-related indicators, adverse reactions, and therapeutic effects were compared between the two groups.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!