Results 91 to 100 of about 33,369 (222)

DAPSONE AS AN ALTERNATIVE THERAPY IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER [PDF]

open access: yes
Objective: Familial Mediterranan Fever is an hereditary autoinflammatory disease that presents with recurrent febrile attacks and poly serositis. Colchicine is the only known treatment in this diease.
جهانگیری, سپیده   +2 more
core  

Analysis Of Mefv Gene Alternatively Spliced Transcripts Expression Patterns In Cell Culture Models [PDF]

open access: yes, 2014
Tez (Yüksek Lisans) -- İstanbul Teknik Üniversitesi, Fen Bilimleri Enstitüsü, 2013Thesis (M.Sc.) -- İstanbul Technical University, Institute of Science and Technology, 2013Ailevi Akdeniz Ateşi (AAA), bölgemizdeki görülme sıklığı 1/200 ila 1/1073 arasında
Abacı, İrem
core  

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain   +2 more
wiley   +1 more source

Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study

open access: yesGlobal Pediatric Health
Familial Mediterranean fever (FMF) is an autosomal recessive disorder, particularly common in the Mediterranean area. Mutations in the MEVF gene cause it. AA Amyloidosis is the most severe complication of FMF leading to chronic renal failure. We describe
Souhaila El Gazzane MD   +8 more
doaj   +1 more source

A neglected disease of humans: a new focus of visceral leishmaniasis in Bakool, Somalia. [PDF]

open access: yes, 2008
Visceral leishmaniasis (VL) was observed in children in Bakool region, Somalia, an area where VL has not been reported before. We describe the extent of the problem in this war- and famine-stricken area.
Boelaert, M   +5 more
core   +1 more source

International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor–Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome [PDF]

open access: yes, 2016
Objective: Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the diagnostic pathway and treatments at tertiary centers for familial Mediterranean fever (FMF), tumor ...
Cantarini, L   +19 more
core   +2 more sources

A Comparative study: feature and clinical progress of Familial Mediterranean Fever to clinical manifestation onset in 1st decade of life and upper decades [PDF]

open access: yes
BACKGROUND: Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent episode of serositis attack, commonly involving the abdomen, chest or joint, typically accompanied by fever and elevated acute phase reactants ...
حبیب زاده, شهرام   +2 more
core  

Understanding diversity of human innate immunity receptors: analysis of surface features of leucine-rich repeat domains in NLRs and TLRs. [PDF]

open access: yes, 2009
BackgroundThe human innate immune system uses a system of extracellular Toll-like receptors (TLRs) and intracellular Nod-like receptors (NLRs) to match the appropriate level of immune response to the level of threat from the current environment.
Godzik, Adam, Istomin, Andrei Y
core   +4 more sources

Biological compatibility between two temperate lineages of brown dog ticks, Rhipicephalus sanguineus (sensu lato) [PDF]

open access: yes, 2018
Background: The brown dog tick Rhipicephalus sanguineus (sensu stricto) is reputed to be the most widespread tick of domestic dogs worldwide and has also been implicated in the transmission of many pathogens to dogs and humans.
Capelli, Gioia   +8 more
core   +2 more sources

Canakinumab as rescue therapy in familial Mediterranean fever refractory to conventional treatment

open access: yesDrug Design, Development and Therapy, 2015
Mirella Alpa, Dario Roccatello Centro di Ricerche di Immunopatologia e Documentazione su Malattie Rare (CMID), Struttura Complessa Direzione Universitaria di Immunologia Clinica, Università di Torino e Ospedale G Bosco, Torino, ItalyAbstract ...
Alpa M, Roccatello D
doaj  

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