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Compound heterozygous mutations (p.L68R∗37 and p.T241N) lead to abnormal protein levels and structures in hereditary FVII deficiency.
Blood Coagul Fibrinolysis
December 2024
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFRisk Factors for Co-Infections in Patients With Severe Fever With Thrombocytopenia Syndrome.
J Med Virol
January 2025
Department of Clinical Laboratory, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui Province, China.
Severe fever with thrombocytopenia syndrome (SFTS) is an emerging viral hemorrhagic fever with a high fatality rate and notable public health impact, caused by a novel phlebovirus, primarily transmitted through infected tick bites. This study aimed to assess the prevalence of co-infections among hospitalized patients with SFTS, characterize isolated pathogens, and evaluate demographics, clinical features, and laboratory variations to identify potential risk factors for co-infections. In a cohort of 78 SFTS patients categorized into co-infection and non-co-infection groups, 44.
View Article and Find Full Text PDFThe Role of Intravenous Selexipag in Managing PAH and Bridging Gaps in Oral Treatment: A Narrative Review.
Ther Clin Risk Manag
January 2025
Departments of Medicine and Cardiology, Westchester Medical Center and New York Medical College, Valhalla, NY, USA.
Pulmonary arterial hypertension (PAH) is a rare and potentially fatal condition characterized by progressive increases in blood pressure in the arteries of the lungs. Oral selexipag, approved by the Food and Drug Administration (FDA) in 2015 for the treatment of PAH, targets prostacyclin receptors on pulmonary arterial vascular smooth muscle and endothelial cells to improve blood flow through the lungs and reduce pulmonary vascular resistance. Oral selexipag is effective, but may be discontinued due to factors like side effects, emergency conditions, or inability to take oral medication, potentially leading to severe adverse events, such as rebound pulmonary hypertension and right heart failure.
View Article and Find Full Text PDFThe Importance of Clinical History in the Etiological Diagnosis of Diffuse Alveolar Hemorrhage Associated With Improper Adrenaline Use.
Cureus
December 2024
Department of Intensive Care Medicine, Centro Hospitalar Universitário de São João, Porto, PRT.
This case involves a 21-year-old male healthcare student with a medical history of HIV-1 infection for two years and anxiety disorder. He presented to the emergency department with hemoptysis and dyspnea of sudden onset. A thoracic CT scan revealed multiple bilateral nodular ground-glass opacities suggestive of diffuse alveolar hemorrhage (DAH).
View Article and Find Full Text PDFStreptococcus pyogenes M1UK Variant-Associated Sartorius Muscle Necrotizing Soft Tissue Infection: A Case Report and Literature Review.
Cureus
December 2024
Laboratory of Infectious Diseases, Graduate School of Infection Control Sciences & Ōmura Satoshi Memorial Institute, Kitasato University, Tokyo, JPN.
Necrotizing soft tissue infections (NTSIs) represent a concept of necrotizing infections involving the skin, subcutaneous tissue, fascia, and muscle, and it is a potentially fatal disease. Early exploratory incision is strongly recommended for both the diagnosis and treatment of necrotizing soft tissue infections. Treatment of necrotizing soft tissue infections requires the administration of appropriate antimicrobial agents and adequate surgical debridement.
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