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Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.
Am J Med Genet A
January 2025
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients. We here describe a new case of apparently isolated HCM due to mitochondrial assembly factor gene NDUFAF1 biallelic variants (c.
View Article and Find Full Text PDFin Major Depression: Possible Association of and with Childhood Traumas.
Clin Psychopharmacol Neurosci
February 2025
Private Practice, Denizli, Türkiye.
Objective: Psychosocial and genetic factors are considered to play roles in the etiological mechanisms of major depressive disorder (MDD). The involvement of miRNAs in the etiopathogenesis of depression and childhood traumas is still unclear. This study aims to reveal potential differences in miRNA levels between patients with depression and healthy individuals and assess their connection to childhood traumas.
View Article and Find Full Text PDFExploring pathological targets and advancing pharmacotherapy in autism spectrum disorder: Contributions of glial cells and heavy metals.
Histol Histopathol
January 2025
Neuropharmacology Division, Department of Pharmacology, ISF College of Pharmacy, Moga, Punjab, India.
Autism spectrum disorder (ASD) is a globally recognized neurodevelopmental condition characterized by repetitive and restrictive behavior, persistent deficits in social interaction and communication, mental disturbances, etc., affecting approximately 1 in 100 children worldwide. A combination of genetic and environmental factors is involved in the etiopathogenesis of the disease, but specific biomarkers have not yet been identified.
View Article and Find Full Text PDFColorectal cancer: local results and significance in Hungary.
J Gastrointest Oncol
December 2024
Department of Internal Medicine, HCA Healthcare/USF Morsani College of Medicine GME, HCA Florida Blake Hospital, Bradenton, FL, USA.
Background: Colorectal cancer (CRC) causes substantial morbidity and mortality internationally. In Hungary, the incidence and mortality of CRC are among the world's highest. Fortunately, CRC is a highly preventable disease, since there is a long asymptomatic phase before neoplastic transformation.
View Article and Find Full Text PDFEffects of ionizing radiation on osteoblastic cells: In vitro insights into the etiopathogenesis of osteoradionecrosis.
Arch Oral Biol
December 2024
University of Brasília, Brasília, Laboratory of Oral Histopathology, Health Sciences Faculty, Brazil. Electronic address:
Objective: This in vitro study aimed to analyze the effects of ionizing radiation on immortalized human osteoblast-like cells (SaOS-2) and further assess their cellular response in co-culture with fibroblasts. These analyses, conducted in both monoculture and co-culture, are based on two theoretical models of osteoradionecrosis - the theory of hypoxia and cellular necrosis and the theory of the radiation-induced fibroatrophic process.
Design: SaOS-2 cells were exposed to ionizing radiation and evaluated for cell viability, nitric oxide (NO) production, cellular morphology, wound healing, and gene expression related to the PI3K-AKT-mTOR pathway.
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