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Congenital Factor VII Deficiency: A Case Study of Four Family Members.
Cureus
December 2024
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice.
View Article and Find Full Text PDFSarcoidosis presenting in a human immunodeficiency virus patient before starting antiretroviral therapy - "Granuloma paradox".
Indian J Sex Transm Dis AIDS
December 2024
Department of Dermatology and Venereology, Government T D Medical College, Alappuzha, Kerala, India.
Cardiac sarcoidosis; update for the heart failure specialist.
Curr Opin Cardiol
January 2025
Division of Cardiology, University of Ottawa Heart Institute, University of Ottawa, Faculty of Medicine, Tier 1 Clinical Research Chair in Cardiac Electrophysiology, Ottawa, ON, Canada.
Purpose Of Review: This review presents contemporary data on epidemiology, common presentations, investigations and diagnostic algorithms, treatment and prognosis. It particularly focuses on topics of most relevance to heart failure specialists, including what left ventricle (LV) function changes can be expected after treatment and outcomes to all standard and advanced heart failure therapies.
Recent Findings: Around 5% of sarcoidosis patients have clinically manifest cardiac sarcoidosis (CS), presenting with significant arrhythmias (such as conduction disturbances and ventricular arrhythmias) or newly developed unexplained heart failure.
Sarcoidosis-Like Reaction in a Patient With Psoriatic Arthritis Treated With Adalimumab.
Cureus
December 2024
Internal Medicine, Hospital Infante D. Pedro, Aveiro, PRT.
A drug-induced sarcoidosis-like reaction (DISR) is a systemic granulomatous reaction indistinguishable from sarcoidosis and is associated with the administration of a medication. It typically exhibits a temporal relationship with the initiation of the drug (an average interval of 22 months) and tends to improve upon its discontinuation. Tumor necrosis factor (TNF) antagonists, including adalimumab, have been associated with the development of DISR.
View Article and Find Full Text PDFUpregulation of HSP90α in the lungs and circulation in sarcoidosis.
Front Med (Lausanne)
January 2025
Department of Medicine, Firestone Institute for Respiratory Health, McMaster University, Hamilton, ON, Canada.
Background: Sarcoidosis is a systemic granulomatous disease of unknown cause. Natural improvement with favorable outcome is common, but a significant number of patients present with difficult to manage and progressive disease. The identification of biomarkers associated with disease activity and progression is warranted.
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