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Familial Mediterranean fever in Romania: a case report and literature review.
Front Pediatr
January 2025
Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania.
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever and systemic inflammation, most prevalent in Eastern Mediterranean populations. Rare in regions like Romania, FMF presents diagnostic challenges and risks severe complications if untreated. We report a 7-year-old Romanian girl, from a non-classical ethnic background, with recurrent febrile episodes and elevated inflammatory markers.
View Article and Find Full Text PDFProteinase 3 (PR3)-Positive Perinuclear Anti-neutrophil Cytoplasmic Antibodies (pANCA) Vasculitis With Concurrent Invasive Aspergillosis Infection.
Cureus
January 2025
Adult Critical Care, St George's University Hospitals NHS Foundation Trust, London, GBR.
Anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitides are a group of rare diseases that cause inflammation of small to medium vessels. They comprise granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA). As the signs and symptoms are varied, the diagnosis of vasculitis is complex and challenging; however, there are type-specific clinical presentations that can be factored into the existing classification criteria.
View Article and Find Full Text PDFCase Report: Novel variants cause atypical adenosine deaminase 2 deficiency.
Front Genet
January 2025
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Case Presentation: A girl aged 2 years and 5 months presented to the hospital with chief complaints of intermittent fever and weakness of the left limb for more than 1 month. The child had transient urticaria appearing on her face for 5 days. The inflammatory biomarkers were significantly increased.
View Article and Find Full Text PDFNodular Hidradenoma With Atypical Features in a Young Patient: A Case Report.
Cureus
December 2024
Saudi Internal Medicine Residency Training Program, Ministry of Health, Jeddah, SAU.
Eccrine acrospiromas, also known as hidradenomas, are rare benign tumors that develop from the eccrine sweat glands. Hidradenoma is a multilobular, nonencapsulated, well-circumscribed dermal nodule that may involve the epidermis and extend into the subcutaneous fat. The etiology and prevalence of nodular hidradenoma are not well defined, but it is noted that it can occur spontaneously or traumatically.
View Article and Find Full Text PDFCutaneous Presentation Mimicking Tuberculosis as an Initial Indicator of Hairy Cell Leukemia: A Case Report.
Cureus
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Internal Medicine, Hospital de Braga, Braga, PRT.
Hairy cell leukemia (HCL) is a rare and slow-progressing lymphoid disorder commonly presenting with splenomegaly and cytopenias. The diagnosis can be challenging due to its nonspecific clinical presentation, frequently resembling other diseases. We report the case of a 48-year-old male patient, whose initial diagnostic hypotheses included cutaneous tuberculosis and reactive arthritis, but the diagnosis was confirmed as HCL after further investigation, including flow cytometry.
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