Alexander disease, or hypoproconvertinemia is a rare autosomic recessive coagulation disorder. The features include familial and/or personal history of bleeding, with an abnormal prothrombin period and a normal activated partial thromboplastin period. Coagulation and genetic studies allow subclassification with prognosis incidence for this disease. The authors report on a case of one family with Alexander disease.
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Metabolomics
January 2025
Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Background: Gestational exposure to non-persistent endocrine-disrupting chemicals (EDCs) may be associated with adverse pregnancy outcomes. While many EDCs affect the endocrine system, their effects on endocrine-related metabolic pathways remain unclear. This study aims to explore the global metabolome changes associated with EDC biomarkers at delivery.
View Article and Find Full Text PDFAnn Vasc Surg
January 2025
Division of Vascular Surgery and Endovascular Therapy, Keck Medical Center of University of Southern California. 1520 San Pablo Street HCT 4300, Los Angeles, California, 90033. Electronic address:
Objectives: This study assessed the association between chronic obstructive pulmonary disease (COPD) severity and postoperative mortality among patients undergoing thoracic endovascular aortic repair (TEVAR) and complex endovascular aortic repair (CEVAR).
Methods: A retrospective review of the Vascular Quality Initiative database identified elective TEVAR and CEVAR cases from 2013-2022 with endograft proximal landing zone ≥2 for thoracic or complex abdominal aortic disease. Symptomatic disease, ruptures, and urgent/emergent surgeries were excluded.
Medicina (Kaunas)
January 2025
Department of Plastic, Reconstructive and Hand Surgery, Burn Unit, Klinikum Nuremberg Hospital, Paracelsus Medical University, Breslauer Str. 201, 90471 Nuremberg, Germany.
: Toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS) are rare yet life-threatening dermatologic conditions characterized by severe skin and mucous membrane involvement. Accurate prognostic systems are crucial for clinical management to assess disease severity and predict outcomes. The primary objective of this study was to assess the epidemiological characteristics and clinical outcomes of patients with Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN), and SJS/TEN overlap over a 17-year period at a specialized burn center.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, 17671 Athens, Greece.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is the leading cause of liver-related morbidity and mortality. Although the invasive liver biopsy remains the golden standard for MASLD diagnosis, Magnetic Resonance Imaging-derived Proton Density Fat Fraction (MRI-PDFF) is an accurate, non-invasive method for the assessment of treatment response. This study aimed at developing a Polygenic Risk Score (PRS) to improve MRI-PDFF prediction using UK Biobank data to assess an individual's genetic liability to MASLD.
View Article and Find Full Text PDFAnimals (Basel)
January 2025
Clinic for Ruminants with Ambulatory and Herd Health Services, Centre for Clinical Veterinary Medicine, Ludwig-Maximilians-University, 80539 Munich, Germany.
Prepartum vaccinations against neonatal calf diarrhea pathogens are administered in late pregnancy to provide passive immunity to calves through protective colostral antibodies. Potential non-specific effects of the vaccine on maternal innate immune responses and disease susceptibility during the sensitive transition period have not been addressed so far. In this retrospective study, data from 73,378 dairy cows on 20 farms in Germany were analyzed, using linear mixed-effects regression, quantile regression, and decision-tree-algorithms, to investigate the effects of prepartum vaccination on mammary health and milk yield by comparing non-vaccinated and vaccinated transition periods.
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