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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 PDFDemographic Features, Diagnoses and Real-World Clinical Management of Uveitis in Japan.
Ocul Immunol Inflamm
January 2025
Department of Ophthalmology, Kyorin University School of Medicine, Tokyo, Japan.
Purpose: This study aimed to investigate demographic features, diagnoses of uveitis (intraocular inflammation), and real-world clinical practice in the use of local and systemic therapies for patients with uveitis in Tokyo, Japan.
Methods: Clinical records of 1,174 consecutive new patients (480 males, 694 females) referred to the Kyorin Eye Center, Kyorin University Hospital between January 2011 and December 2018 were retrospectively reviewed.
Results: Mean age at presentation was 52.
Cytomegalovirus Infection in an Immunocompetent Host Presenting as Hemophagocytic Lymphohistiocytosis.
Eur J Case Rep Intern Med
December 2024
Department of Internal Medicine, Hospital de Santa Maria, ULS de Santa Maria, Lisbon, Portugal.
Unlabelled: Cytomegalovirus (CMV) is a human herpes virus with a worldwide seroprevalence of 60-100%, mainly known to cause severe life-threatening disease in immunocompromised patients. In immunocompetent hosts (IMCh), CMV causes a self-limiting mononucleosis-like infection, and severe pictures are less recognized. We report a case of a previously healthy 62-year-old woman evaluated in the Internal Medicine outpatient clinic for 3 weeks of progressive fatigue, generalised inflammatory arthralgias, hypogastric discomfort and daily persistent fever.
View Article and Find Full Text PDFReal-world cost-effectiveness analysis of thymoglobulin versus no induction therapy in kidney transplant recipients at low risk of graft loss.
J Bras Nefrol
January 2025
Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo, SP, Brazil.
Background: A new induction therapy strategy of a single 3 mg/kg dose of rabbit antithymocyte globulin (r-ATG) showed a lower incidence of acute rejection.
Methods: The objective of this study was to use real-world data to determine the incremental cost-effectiveness ratio (ICER) of r-ATG induction for the prevention of acute rejection (AR) in the first year following kidney transplantation and for kidney graft survival over 1, 4, and 10 years of post-transplantation from the perspective of the national public healthcare system. A Markov state transition model was developed utilizing real-world data extracted from medical invoices from a single center.
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