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Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
Turk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFPre-emptive treatment for cytomegalovirus viraemia to prevent cytomegalovirus disease in solid organ transplant recipients.
Cochrane Database Syst Rev
January 2025
Cochrane Kidney and Transplant, Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, Australia.
Background: Cytomegalovirus (CMV) is a significant cause of morbidity and death in solid organ transplant recipients. Pre-emptive treatment of patients with CMV viraemia using antiviral agents has been suggested as an alternative to routine prophylaxis to prevent CMV disease. This is an update of a Cochrane review first published in 2006 and updated in 2013.
View Article and Find Full Text PDFUlcerative and Cytomegalovirus Colitis Associated with Fournier's Gangrene: A Case Report.
Middle East J Dig Dis
October 2024
Department of Gastroenterology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Fournier gangrene is a rare but severe complication of ulcerative colitis, characterized by necrotizing fasciitis affecting the genital and perineal regions. We present a case of a 53-year-old man with a history of ulcerative colitis and cytomegalovirus (CMV) colitis who developed Fournier gangrene, an exceptionally uncommon occurrence in this patient population. The patient initially presented with intense pain, swelling, and skin discoloration in the genital area, accompanied by systemic symptoms, including fever.
View Article and Find Full Text PDFBeyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.
Turk Arch Pediatr
January 2025
Division of Allergy and Immunology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Türkiye.
Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.
View Article and Find Full Text PDFPredictors of cytomegalovirus corneal endotheliitis postcorneal transplantation.
Br J Ophthalmol
December 2024
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Kyoto, Japan.
Purpose: This study was designed to investigate risk factors for the development of cytomegalovirus (CMV) corneal endotheliitis following corneal transplantation.
Methods: We retrospectively analysed 1225 corneal transplants for bullous keratopathy between 2011 and 2021. 31 cases who were administered the treatment of CMV corneal endotheliitis preoperatively were excluded, and 1194 cases were analysed for risk factors for the development of CMV corneal endotheliitis following corneal transplantation.
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