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Lifetime Body Mass Index Trajectories and Contrasting Lung Function Abnormalities in Mid-Adulthood: Data From the Tasmanian Longitudinal Health Study.
Respirology
January 2025
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
Background And Objective: The impact of lifetime body mass index (BMI) trajectories on adult lung function abnormalities has not been investigated previously. We investigated associations of BMI trajectories from childhood to mid-adulthood with lung function deficits and COPD in mid-adulthood.
Methods: Five BMI trajectories (n = 4194) from age 5 to 43 were identified in the Tasmanian Longitudinal Health Study.
POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.
Cancer
February 2025
Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Background: To date, 11 DNA polymerase epsilon (POLE) pathogenic variants have been declared "hotspot" mutations. Patients with endometrial cancer (EC) characterized by POLE hotspot mutations (POLEmut) have exceptional survival outcomes. Whereas international guidelines encourage deescalation of adjuvant treatment in early-stage POLEmut EC, data regarding safety in POLEmut patients with unfavorable characteristics are still under investigation.
View Article and Find Full Text PDFEarly Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFAnti-Müllerian hormone regulates ovarian granulosa cell growth in PCOS rats through SMAD4.
Int J Gynaecol Obstet
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou, Liaoning, China.
Objective: Polycystic ovary syndrome (PCOS) is a diverse condition with an unknown cause. The precise mechanism underlying ovulatory abnormalities in PCOS remains unclear. It is widely believed that malfunction of granulosa cells is the primary factor contributing to aberrant follicular formation in PCOS.
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