Results 31 to 40 of about 6,236 (217)

Scrotal involvement in childhood immunoglobulin A associated vasculitis

Journal of Contemporary Medicine, 2021
Aim: The aim of this study is to evaluate the demographic and clinic findings in immunoglobulin A-associated vasculitis (IgAV) patients with scrotal involvement and also to determine predictive factors for assessing the development of scrotal involvement.
Cüneyt Karagöl, Serkan Coşkun, Tuba Kurt, Elif Çelikel, Fatma Aydın, Zahide Ekici Tekin, Nilüfer Tekgöz, Müge Sezer, Melike Kaplan, Banu Acar   +9 more
doaj   +1 more source

Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study [PDF]

Iranian Journal of Medical Sciences, 2023
Background: In December 2019, an outbreak of pneumonia caused by the novel coronavirus disease 2019 (COVID-19) became a pandemic and caused a global health crisis.
Farhad Salehzadeh, Farhad Pourfarzi, Rasool Molatefi, Behzad Davarnia, Ehsan Shahbazfar, Farzad Ahmadabadi   +5 more
doaj   +1 more source

Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

Gastroenterology Research and Practice, 2021
Background. The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective. Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD ...
S. Sahin, D. Gulec, S. Günay, C. Cekic
doaj   +1 more source

OR2-002 – The risk of FMF in MEFV heterozygotes [PDF]

Pediatric Rheumatology, 2013
IntroductionFamilial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. The observation of many heterozygous patients in whom a second mutated allele was excluded led to propose that heterozygosity could be causal; however, this might often be ...
Jéru, Isabelle, Hentgen, Véronique, Cochet, Emmanuelle, Duquesnoy, Philippe, Le Borgne, Gaëlle, Grimprel, Emmanuel, Stojanovic, Katia, Karabina, Sonia, Grateau, Gilles, Amselem, Serge   +9 more
openaire   +2 more sources

Patient with FMF and Triple MEFV Gene Mutations [PDF]

Medical Archives, 2015
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks,
Salehzadeh, Farhad, Fathi, Afshin
openaire   +2 more sources

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of <i>TGFBR2</i> Variant in Loeys-Dietz Syndrome. [PDF]

DEN Open
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Sado T, Ukai S, Kurasawa S, Kono Y, Hasuda N, Iwaya M, Nakane T, Yamaguchi T, Kosho T, Nakayama Y.   +9 more
europepmc   +2 more sources

Autoinflammation due to homozygous S208 MEFV mutation [PDF]

Annals of the Rheumatic Diseases, 2019
Heterozygous mutations in the MEFV gene disrupting the Serine-242 residue in the 14-3-3 binding motif of pyrin cause Pyrin-AssociatedAutoinflammation with Neutrophilic Dermatosis (PAAND).1–5 We now describe familial autoinflammation associated with homozygous Serine-208 mutations in MEFV , the second crucial phosphorylation site of the pyrin 14-3-3 ...
Ying Hong, Ariane S I Standing, Sira Nanthapisal, Neil Sebire, Stephen Jolles, Ebun Omoyinmi, Ruud HJ Verstegen, Paul A Brogan, Despina Eleftheriou   +8 more
openaire   +3 more sources

Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective [PDF]

Pediatric Rheumatology, 2015
Background Systemic autoinflammatory diseases (SAIDs) are a group of diseases characterized by episodes of inflammation, usually manifested with fever and a variety of symptoms, including skin-rash, arthritis and abdominal pain. A clinical overlap between different SAIDs, may cause diagnosis uncertainty.
Ben-Zvi, I, Shinar, Y, Cohen, R, Grossman, C, Kukuy, O, Livneh, A   +5 more
openaire   +1 more source

P01-004 – MEFV genes and FMF [PDF]

Pediatric Rheumatology, 2013
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen in the Turks, Arabs, Armenians and Jews people characterised by recurrent episoded of fever and polyserositis and rash. Recently the definitive diagnosis of FMF determines by MEFV gene analysis.
Salehzadeh, F, Jafariasl, M, Jahangiri, S, Hosseiniasl, S   +3 more
openaire   +1 more source

Repeated Necrotizing Lymphadenitis with MEFV Gene Mutations.

Internal medicine (Tokyo, Japan), 2021
We herein report a 36-year-old man with repeated necrotizing lymphadenitis due to MEFV gene mutations. The patient's chief complaints were a fever and painful cervical lymphadenopathy. We diagnosed him with necrotizing lymphadenitis based on the pathological findings of the lymph nodes and the exclusion of other differential diseases.
Yamamura, Yuta, Furuichi, Kengo, Toyama, Tadashi, Oshima, Megumi, Ogura, Hisayuki, Sato, Koichi, Nakagawa, Shiori, Miyagawa, Taro, Kitajima, Shinji, Hara, Akinori, Iwata, Yasunori, Sakai, Norihiko, Shimizu, Miho, Ikeda, Hiroko, Toma, Tomoko, Takasawa, Kazuya, Yachie, Akihiro, Wada, Takashi   +17 more
openaire   +2 more sources