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https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#1
Pulukool Sandhya, Shamsudheen Karuthedath Vellarikkal, Aswin Nair, Rowmika Ravi, John Mathew, Rijith Jayarajan, Anoop Kumar, Ankit Verma, Ambily Sivadas, Debashish Danda, Sridhar Sivasubbu, Vinod Scaria
Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c...
February 17, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28207965/is-colchicine-more-effective-to-prevent-pfapa-episodes-in-mefv-variants
#2
Muhammed Gunes, Sukru Cekic, Sara Sebnem Kilic
BACKGROUND: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized with fever episodes lasting for about three to six days, once every three to eight weeks. METHODS: Clinical and laboratory data of patients with PFAPA syndrome between January 2010 and December 2014 followed up at a tertiary pediatric care hospital were reviewed. RESULTS: Four-hundred children (256 male, 144 female), the mean age at diagnosis was 4...
February 16, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28197346/allogeneic-transplant-in-elane-and-mefv-mutation-positive-severe-cyclic-neutropenia-review-of-prognostic-factors-for-secondary-severe-events
#3
Onyemaechi N Okolo, Emmanuel Katsanis, Seongseok Yun, Candace Y Reveles, Faiz Anwer
Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection. Case...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28194777/familial-mediterranean-fever-patients-with-hidradenitis-suppurativa
#4
Secil Vural, Mustafa Gundogdu, Nihal Kundakci, Thomas Ruzicka
BACKGROUND: Hidradenitis suppurativa (HS) has recently been described as a component of two autoinflammatory syndromes: PASH (pyoderma gangrenosum, acne, and HS) and PAPASH (pyoderma gangrenosum, acne, pyogenic arthritis, and HS). These associations together with others such as inflammatory bowel diseases suggest that defects in autoinflammatory pathways may play a role in the pathogenesis of HS. OBJECTIVES: To describe clinical and genetic characteristics of two unrelated patients with HS and familial Mediterranean fever (FMF)...
February 14, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28191008/the-nlrp3-and-pyrin-inflammasomes-implications-in-the-pathophysiology-of-autoinflammatory-diseases
#5
REVIEW
Carlos de Torre-Minguela, Pablo Mesa Del Castillo, Pablo Pelegrín
Inflammasomes are multiprotein complexes that critically control different aspects of innate and adaptive immunity. Among them we could highlight the release of pro-inflammatory cytokines that induce and maintain the inflammatory response. Usually, inflammasomes result from oligomerization of a nucleotide-binding domain-like receptor (NLR) after sensing different pathogenic or endogenous sterile dangerous signals; however, other proteins such as absent in melanoma 2, retinoic acid-inducible gene I, or pyrin could also form inflammasome platforms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28183565/minimum-effective-fluid-volume-of-colloid-to-prevent-hypotension-during-caesarean-section-under-spinal-anesthesia-using-a-prophylactic-phenylephrine-infusion-an-up-down-sequential-allocation-study
#6
Christian Loubert, Pierre-Olivier Gagnon, Roshan Fernando
STUDY OBJECTIVE: The aim of this study was to de termine the minimum effective fluid volume (MEFV) of hydroxyethyl starch 130/0.4 (HES) infused in a preload fashion which would prevent hypotension in 50% of parturients undergoing caesarean section. A secondary objective was to measure the hemodynamic effect of fluid loading on the subjects. DESIGN: This is a prospective, double-blinded, dose-finding study using an up-down sequential allocation design. SETTING: In the operating room...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28165838/microarray-analysis-of-circulating-micrornas-in-familial-mediterranean-fever
#7
Taizo Wada, Tomoko Toma, Yusuke Matsuda, Akihiro Yachie, Saori Itami, Yoshihiro Taguchi, Yoshiki Murakami
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. Mutations in exon 10 are associated with typical FMF phenotypes, whereas the pathogenic role of variants in exons 2 and 3 remains uncertain. Recent evidence suggests that circulating microRNAs are potentially useful biomarkers in several diseases. Therefore, their expression was assessed in FMF. METHODS: The subjects were 24 patients with FMF who were between attacks: 8 with exon 10 mutations (group A), 8 with exon 3 mutations (group B), and 8 without exon 3 or 10 mutations (group C)...
February 6, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28154935/-role-of-genetics-in-familial-mediterranean-fever
#8
REVIEW
T Kallinich, B Orak, H Wittkowski
Familial Mediterranean fever (FMF) is caused by mutations within the Mediterranean fever (MEFV) gene. These gain of function mutations lead to an increased activation of the inflammasome pyrin with a subsequent disproportional proinflammatory reaction. Classically, in FMF patients two pathogenic mutations affecting both alleles are found in the molecular genetic analysis; however, it is well known that the phenotype can also be caused either by mutations with lower penetrance or unknown significance. Furthermore, in a significant number of patients only one or even no MEFV mutations can be detected...
February 2, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28134085/digenic-mefv-tnfrsf1a-autoinflammatory-syndrome-with-relapsing-aseptic-neutrophilic-meningitis-and-chronic-myelitis
#9
Anne Murarasu, Catherine Dodé, Guillaume Sarrabay, Isabelle Klein, Thomas Papo, Karim Sacré
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January 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28040706/familial-mediterranean-fever-associated-diseases-in-children
#10
Z Birsin Özçakar, Nilgün Çakar, Nermin Uncu, Banu Acar Çelikel, Fatoş Yalçınkaya
BACKGROUND: MEditerranean FeVer (MEFV) gene encodes for the pyrin protein and a mutated pyrin is associated with a prolonged or augmented inflammation. Hence, various diseases were reported to be associated with familial Mediterranean fever (FMF) or carriers of MEFV mutations. However, systematic evaluation of all associated diseases in children with FMF has not been done previously. AIM: The aim of this study was to investigate the frequency and type of FMF-associated diseases in children...
December 30, 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28018446/familial-mediterranean-fever-presenting-as-fever-of-unknown-origin-in-korea
#11
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28001092/familial-mediterranean-fever-with-p369s-r408q-exon3-variant-in-pyrin-presenting-as-symptoms-of-pfapa
#12
Keiko Yamagami, Tomoyuki Nakamura, Ryota Nakamura, Yusuke Hanioka, Kaori Seki, Hiroshi Chiba, Keiko Kobayashi, Kazunaga Agematsu
Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms has been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made...
December 21, 2016: Modern Rheumatology
https://www.readbyqxmd.com/read/27998728/il-1%C3%AE-and-caspase-1-drive-autoinflammatory-disease-independently-of-il-1%C3%AE-or-caspase-8-in-a-mouse-model-of-familial-mediterranean-fever
#13
Deepika Sharma, Bhesh Raj Sharma, Peter Vogel, Thirumala-Devi Kanneganti
Mutations in the gene encoding pyrin are associated with autoinflammatory disorder Familial Mediterranean Fever (FMF). A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv(V726A/V726A)) was generated to model human FMF. This mouse strain shows an autoinflammatory disorder that is prevented by genetic deletion of IL-1 (IL-1) receptor or apoptosis-associated speck-like protein containing a caspase activation and recruitment domain (ASC). ASC-mediated cell death leads to the release of IL-1α and IL-1β, both of which signal through IL-1 receptor...
February 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/27994174/evidence-of-digenic-inheritance-in-autoinflammation-associated-genes
#14
Vassos Neocleous, Stefania Byrou, Meropi Toumba, Constantina Costi, Christos Shammas, Christina Kyriakou, Violetta Christophidou-Anastasiadou, George A Tanteles, Adamos Hadjipanayis, Leonidas A Phylactou
Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possible mutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek-Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#15
REVIEW
Giusyda Tarantino, Susanna Esposito, Laura Andreozzi, Benedetta Bracci, Francesca D'Errico, Donato Rigante
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene...
December 15, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27957452/molecular-analysis-of-mefv-gene-polymorphisms-and-mutations-in-iranian-azeri-patients-with-rheumatoid-arthritis
#16
Alireza Khabbazi, Farideh Zolrahim, Mehrdad Asghari Estiar, Ebrahim Sakhinia, Sousan Kolahi
No abstract text is available yet for this article.
October 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/27956278/the-m694i-m694i-genotype-a-genetic-risk-factor-of-aa-amyloidosis-in-a-group-of-algerian-patients-with-familial-mediterranean-fever
#17
Djouher Ait-Idir, Bahia Djerdjouri, Faiza Bouldjennet, Rowaida Z Taha, Hatem El-Shanti, Rawda Sari-Hamidou, Ghalia Khellaf, Mustapha Benmansour, Mohamed Benabadji, Farid Haddoum
Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end-stage renal disease in untreated patients. The data about the renal AA-amyloidosis secondary to FMF are scarce in North African countries and non-existent in Algeria. We aimed to investigate the MEFV mutations associated with this complication in an Algerian patient cohort...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27943240/autoinflammation-in-pyoderma-gangrenosum-and-its-syndromic-form-pash
#18
A Marzano, G Damiani, I Ceccherini, E Berti, M Gattorno, M Cugno
BACKGROUND: Pyoderma gangrenosum (PG) is a rare skin disease characterized clinically by ulcers with undermined borders, and histologically by neutrophil-rich infitrates. PG may occur alone, in syndromic forms or associated with systemic diseases as inflammatory bowel diseases and hematological or rheumatological disorders. OBJECTIVES: Although some autoinflammatory diseases present with PG, to date, a specific genetic background related to autoinflammation has not been proven for PG...
December 10, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27942211/computer-quantification-of-angle-of-collapse-on-maximum-expiratory-flow-volume-curve-for-diagnosing-asthma-copd-overlap-syndrome
#19
Wei Wang, Mengshuang Xie, Shuang Dou, Liwei Cui, Wei Xiao
BACKGROUND: In a previous study, we demonstrated that asthma patients with signs of emphysema on quantitative computed tomography (CT) fulfill the diagnosis of asthma-COPD overlap syndrome (ACOS). However, quantitative CT measurements of emphysema are not routinely available for patients with chronic airway disease, which limits their application. Spirometry was a widely used examination tool in clinical settings and shows emphysema as a sharp angle in the maximum expiratory flow volume (MEFV) curve, called the "angle of collapse (AC)"...
2016: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/27899005/angle-%C3%AE-of-greater-than-80%C3%A2-at-the-start-of-spirometry-may-identify-high-quality-flow-volume-curves
#20
Ningfang Lian, Li Li, Weiying Ren, Zhilong Jiang, Lei Zhu
BACKGROUND AND OBJECTIVE: The American Thoracic Society (ATS) and European Respiratory Society (ERS) emphasize a satisfactory start in maximal expiratory flow-volume (MEFV) curves and highlight subjective parameters: performance without hesitation and expiration with maximum force. We described a new parameter, angle β for characterization of the start to the MEFV curve. METHODS: Subjects completed the MEFV curve at least three times and at least two curves met ATS/ERS quality...
November 29, 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
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