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Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Am J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Blue light promotes conjunctival epithelial-mesenchymal transition and collagen deposition through ITGB4.
Ecotoxicol Environ Saf
December 2024
Department of Ophthalmology, the First Affiliated Hospital of Zhejiang University, Hangzhou, Zhejiang Province, China. Electronic address:
The increasing prevalence of LED technology heightened blue light (BL) exposure, raising concerns about its long-term effects on ocular health. This study investigated the transcriptomic response of conjunctiva to BL exposure, highlighting potential biomarkers for conjunctival injury. We exposed human conjunctival epithelial cells and C57BL/6 mice to BL to establish in vitro and in vivo models and identified the responsive genes in mice's conjunctiva to BL exposure by RNA sequencing transcriptome analysis.
View Article and Find Full Text PDFThe prognostic significance of stress-phenotyping for stroke incidence: the Malmö Diet and Cancer Study.
Stress
December 2025
Technology Transfer and Innovation-Support Office, North-West University, Potchefstroom, South Africa.
Background: Self-reported mental stress is not consistently recognized as a risk factor for stroke. This prompted development of a novel algorithm for stress-phenotype indices to quantify chronic stress prevalence in relation to a modified stroke risk score in a South African cohort. The algorithm is based on biomarkers adrenocorticotrophic hormone, high-density lipoprotein cholesterol, high-sensitive cardiac-troponin-T, and diastolic blood pressure which exemplifies the stress-ischemic-phenotype index.
View Article and Find Full Text PDFMolecular Characterization of δβ Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India.
Int J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFFamilial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Lipids Health Dis
December 2024
Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310052, China.
Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.
Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.
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