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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.
Hemophagocytic Lymphohistiocytosis Secondary to Visceral Leishmaniasis: A Case Report.
Cureus
December 2024
Internal Medicine, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT.
Hemophagocytic lymphohistiocytosis (HLH) is a rare clinical entity characterized by fever, constitutional symptoms, and hepatosplenomegaly associated with the presence of hemophagocytosis in the bone marrow and other organs. Visceral leishmaniasis (VL) is a severe zoonotic disease hypoendemic in Portugal, particularly in the Alto Douro region. We report the case of a 21-year-old female patient with a recent diagnosis of human immunodeficiency virus (HIV) infection, stage C3, in the context of severe pneumonia, who presented to the emergency department with fever, erythematous rash on the upper limbs and trunk, choluria and jaundice, one week after starting antiretroviral therapy (ART).
View Article and Find Full Text PDFAflatoxin B and fumonisin B exposure and adverse birth outcomes in HIV-infected and HIV-uninfected women from Harare, Zimbabwe.
Drug Chem Toxicol
January 2025
Immunology Unit, Department of Laboratory, Diagnostic and Investigative Sciences, Faculty of Medicine and Health Sciences, University of Zimbabwe, Harare, Zimbabwe.
Aflatoxin B (AFB1) and fumonisin B (FB1) are toxic secondary products of fungi that frequently contaminate staple crops in resource-limited settings. Antenatal AFB1 and FB1 exposure may cause adverse birth outcomes. We conducted a retrospective substudy nested in a case-control cohort of HIV-infected and HIV-uninfected women ≥20 weeks gestation from Harare, Zimbabwe.
View Article and Find Full Text PDFBactrim-Induced Hepatotoxicity.
Cureus
November 2024
Cardiology, University of Arizona College of Medicine, Phoenix, USA.
Sulfamethoxazole/trimethoprim (SMX/TMP) is a commonly used antimicrobial agent for treating common bacterial infections such as urinary tract infection (UTI), combined with doxycycline for community-acquired methicillin-resistant (MRSA), and invaluable in pneumonia (PJP), previously classified as . Of its known adverse reactions, hepatotoxicity rarely comes to mind, but indeed, it is a recognized but very rare adverse reaction that may lead to liver failure in adults and even rarer in children. We present a case of hepatotoxicity in a 43-year-old male patient on no prior medication who developed jaundice and highly elevated liver enzymes one week after the administration of Bactrim for the treatment of UTI in association with prostatism, symptoms of decreased urinary force due to obstruction of flow through the prostate gland.
View Article and Find Full Text PDFBilirubin: Photophysical and photochemical properties, phototherapy, analytical methods of measurement. A short review.
Biophys Chem
December 2024
International Scientific and Practical Center of Tissue Proliferation, st. Prechistenka, 14/19, Moscow 119034, Russia.
Bilirubin, a yellow bile pigment, plays an important role in the body, being a potent antioxidant and having anti-inflammatory, immunomodulatory, cytoprotective, and neuroprotective functions. This makes bilirubin promising as a therapeutic and diagnostic agent in biomedicine. However, excess bilirubin is toxic and should be removed from the body.
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