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Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.
J Pediatr Endocrinol Metab
January 2025
Department of Medical Genetics, Demiroglu Bilim University Faculty of Medicine, Istanbul, Türkiye.
Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.
Case Presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes.
circ-ZEB1 Enhances NSCLC Metastasis and Proliferation by Modulating the miR-491-5p/EIF5A Axis.
Anal Cell Pathol (Amst)
January 2025
Department of General Practice, Renji Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.
Circular RNAs (circRNAs), covalently closed single-stranded RNAs, have been implicated in cancer progression. A previous investigation revealed that circ-ZEB1 is expressed abnormally in liver cancer. However, the roles of circ-ZEB1 in non-small cell lung cancer (NSCLC) are unknown.
View Article and Find Full Text PDFMitigating lead acetate-induced histopathologic and physiologic disorders in rats receiving vitamin C and glutathione supplement.
Heliyon
January 2025
Zoology and Entomology Department, Faculty of Science, Arish University, North Sinai, Egypt.
The present work examines the extreme impact of lead acetate and the preventive function of co-supplementation with vitamin C and glutathione. It hypothesizes that these supplements can alleviate the poisonous effects of lead exposure. Eighty male albino rats, weighing 100 ± 15 g, were categorized into four groups: the control group, the second group receiving daily supplements of 100 mg/kg of body weight glutathione and 1 mg/100 g of body weight vitamin C orally, the third group receiving 100 mg/kg body weight of lead acetate orally daily, and the fourth group receiving similar oral dosages of lead acetate along with glutathione and vitamin C.
View Article and Find Full Text PDFEffect of elexacaftor-tezacaftor-ivacaftor on liver transient elastography, fibrosis indices and blood tests in children with cystic fibrosis.
J Cyst Fibros
January 2025
Department NEUROFARBA, University of Florence; Paediatric and Liver Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
Background: Elexacaftor-tezacaftor-ivacaftor (ETI) has significantly improved the clinical course of people with cystic fibrosis (pwCF) and eligible CFTR variants. In this study, we prospectively evaluated liver elastography, liver fibrosis indices and liver tests in children with CF aged 6-12 years started on ETI therapy.
Methods: Body mass index, sweat test, percent predicted forced expiratory volume in one second, serum markers of liver injury or portal hypertension, liver fibrosis indices, controlled attenuation parameter and liver stiffness were assessed before starting ETI and three and twelve months post-ETI, according to new international guidelines.
MAF1 inhibits hepatocarcinogenesis by fostering an immunostimulatory tumor microenvironment.
J Immunother Cancer
January 2025
State Key Laboratory of Oncology in South China, and Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, China
Background: The biological significance of MAF1, a tumor suppressor, in carcinogenesis and immune response of hepatocellular carcinoma (HCC) remains unreported. Understanding the underlying mechanisms by which MAF1 enhances anti-tumor immunity in HCC is crucial for developing novel immunotherapy strategies and enhancing clinical responses to treatment for patients with HCC.
Methods: Mice were subjected to hydrodynamic tail vein injections of transposon vectors to overexpress AKT/NRas, or c-Myc, with or without wild-type (WT) or mutant-activated (-4A) MAF1, or short-hairpin MAF1 (shMAF1).
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