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Intrinsic Muscle Stem Cell Dysfunction Contributes to Impaired Regeneration in the mdx Mouse.
J Cachexia Sarcopenia Muscle
February 2025
Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Canada.
Background: Duchenne muscular dystrophy (DMD) is a devastating disease characterized by progressive muscle wasting that leads to diminished lifespan. In addition to the inherent weakness of dystrophin-deficient muscle, the dysfunction of resident muscle stem cells (MuSC) significantly contributes to disease progression.
Methods: Using the mdx mouse model of DMD, we performed an in-depth characterization of disease progression and MuSC function in dystrophin-deficient skeletal muscle using immunohistology, isometric force measurements, transcriptomic analysis and transplantation assays.
Genetic Variants Associated With Preeclampsia and Maternal Serum sFLT1 Levels.
Hypertension
December 2024
Department of Obstetrics and Gynaecology, School of Clinical Medicine, University of Cambridge, United Kingdom. (J.A.M., U.S., F.G., E.C., D.S.C.-J., G.C.S.S.).
Background: Elevated maternal serum sFLT1 (soluble fms-like tyrosine kinase 1) has a key role in the pathophysiology of preeclampsia. We sought to determine the relationship between the maternal and fetal genome and maternal levels of sFLT1 at 12, 20, 28, and 36 weeks of gestational age (wkGA).
Methods: We studied a prospective cohort of nulliparous women (3968 mother-child pairs).
Molecular characterization and antimicrobial susceptibility for 62 isolates of from children.
Front Microbiol
December 2024
Hebei Key Laboratory of Pathogens and Epidemiology of Infectious Diseases, HeBei Provincial Center for Disease Control and Prevention, Shijiazhuang, China.
Background: Pertussis is a highly contagious respiratory disease caused by (BP). Despite global control of pertussis cases through the Expanded Programme on Immunization (EPI), there has been a significant increase in the incidence of pertussis in recent years, characterized by a "resurgence" in developed countries with high immunization rates as well as a comparable reemergence in certain areas of China. We aim to explore the genotypes and antimicrobial susceptibility of circulating BP from children in Hebei.
View Article and Find Full Text PDFPEAR1, PON1, CYP2C19, CYP1A2 and F2R Polymorphisms are Associated with MACE in Clopidogrel-Treated Patients with Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention.
Pharmgenomics Pers Med
December 2024
Department of Cardiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, People's Republic of China.
Objective: The objective of this study was to evaluate the impact of clopidogrel-related gene polymorphisms on the occurrence of recurrent thrombotic events and cardiovascular death in patients with acute coronary syndrome (ACS) following percutaneous coronary intervention (PCI).
Methods: We conducted genotype testing for 26 specific loci mapped to 18 clopidogrel-associated genes in ACS patients who had undergone PCI and were receiving dual antiplatelet therapy only involving clopidogrel. We documented major adverse cardiovascular events (MACE) and clinical endpoints, analyzing the effect of genetic polymorphisms on treatment outcomes.
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.
Front Genet
December 2024
Bioinformatics Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
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