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[PMID]:29505533
[Au] Autor:Asakura K; Yanai S; Nakamura S; Kawaski K; Eizuka M; Ishida K; Endo M; Sugai T; Migita K; Matsumoto T
[Ad] Endereço:Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Iwate Medical University.
[Ti] Título:Familial Mediterranean fever mimicking Crohn disease: A case report.
[So] Source:Medicine (Baltimore);97(1):e9547, 2018 Jan.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Familial Mediterranean fever (FMF) is the most common form of autoinflammatory disease. We report a rare case of FMF with gastrointestinal lesions mimicking Crohn disease. PATIENT CONCERNS: A 21-year-old Japanese man was referred to our institution, complaining of refractory diarrhea and weight loss of 14 kg during the past two years. He had presented with recurrent fever, abdominal pain, anal fistula and stomatitis. His father and one of his brothers had ulcerative colitis. Colonoscopy revealed longitudinal ulcers in the terminal ileum and aphthous erosions in the colorectum. Esophagogastroduodenoscopy revealed multiple linear erosions in the gastric corpus and circular erosions in the duodenal second portion. Biopsy from these lesions failed to detect epithelioid cell granulomas. DIAGNOSES: Analysis of the genomic DNA revealed compound heterozygous mutations of E148Q/L110P in exon 2 of MEFV gene, suggesting a diagnosis of FMF. INTERVENTIONS: The patient was subsequently given 0.5 mg of colchicine per day. OUTCOMES: Follow-up colonoscopy 6 months later demonstrated that both the longitudinal ulcers in the terminal ileum and aphthous lesions in the colorectum had completely disappeared. LESSONS: Our case suggests that patients with FMF possibly manifest gastrointestinal lesions mimicking Crohn disease.
[Mh] Termos MeSH primário: Doença de Crohn/diagnóstico
Febre Familiar do Mediterrâneo/diagnóstico
[Mh] Termos MeSH secundário: Colonoscopia
Diagnóstico Diferencial
Seres Humanos
Masculino
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180306
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009547


  2 / 3037 MEDLINE  
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[PMID]:29402238
[Au] Autor:Tanyildiz B; Tezcan ME; Kandemir B; Günaydin NT; Göktas E; Tangilntiz A; Arsan AK
[Ad] Endereço:Dr. Lutfi Kirdar Kartal Education and Research Hospital, Department of Ophthalmology, Semsi Denizer Caddesi, E-5, 34890, Kartal Istanbul, Turkey. buraktanyildiz@yahoo.com.
[Ti] Título:Effect of oral Colchicine on Peripapillary retinal nerve fiber layer thickness in patients with familial Mediterranean fever.
[So] Source:BMC Ophthalmol;18(1):27, 2018 Feb 05.
[Is] ISSN:1471-2415
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The purpose of this study is to investigate whether oral colchicine has an effect on peripapillary retinal nerve fiber layer (pRNFL) thickness of familial Mediterranean fever (FMF) patients. METHODS: We conducted a cross sectional study by comparing pRNFL thickness of FMF patients on colchicine (treated group), newly diagnosed colchicine naïve FMF patients (untreated group) and healthy controls. The study included 66 FMF patients and 32 healthy control subjects. Treated FMF patients were grouped according to colchicine use, duration of use and dosage. pRNFL thickness of the patients and controls were measured by using optical coherence tomography and the measurements were compared. RESULTS: No statistically significant difference was found between the pRNFL thickness in untreated group, treated group and the healthy control group (all p > 0.05). No statistically significant difference was found between pRNFL thickness in the healthy control group and FMF patients grouped according to duration or dosage of colchicine use (all p > 0.05). CONCLUSIONS: According to our study, FMF and oral colchicine use had no statistically significant effect on pRNFL thickness.
[Mh] Termos MeSH primário: Colchicina/uso terapêutico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Fibras Nervosas/efeitos dos fármacos
Células Ganglionares da Retina/efeitos dos fármacos
Moduladores de Tubulina/uso terapêutico
[Mh] Termos MeSH secundário: Administração Oral
Adulto
Estudos Transversais
Feminino
Seres Humanos
Pressão Intraocular
Masculino
Meia-Idade
Fibras Nervosas/patologia
Disco Óptico
Células Ganglionares da Retina/patologia
Tomografia de Coerência Óptica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Tubulin Modulators); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180216
[Lr] Data última revisão:
180216
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180207
[St] Status:MEDLINE
[do] DOI:10.1186/s12886-018-0698-1


  3 / 3037 MEDLINE  
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[PMID]:29224588
[Au] Autor:Akkaya-Ulum YZ; Balci-Peynircioglu B; Karadag O; Eroglu FK; Kalyoncu U; Kiraz S; Ertenli AI; Özen S; Yilmaz E
[Ad] Endereço:Department of Medical Biology, Hacettepe University, Ankara, Turkey.
[Ti] Título:Alteration of the microRNA expression profile in familial Mediterranean fever patients.
[So] Source:Clin Exp Rheumatol;35 Suppl 108(6):90-94, 2017 Nov-Dec.
[Is] ISSN:0392-856X
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Phenotypic heterogeneity in familial Mediterranean fever (FMF) disease indicated that FMF is not a simple monogenic disease. Therefore it has been suggested that epigenetic factors can be one of the reason for the variations. We undertook this study to test potential involvement of miRNAs in the pathogenesis of FMF. METHODS: miRNA array was performed on whole blood RNA samples from 6 healthy controls (-/-), 6 FMF patients (M694V/M694V), 6 carriers who displayed the disease phenotype (M694V/-) and 6 healthy carriers (M694V/-). The raw data was analysed by Multi Experiment Viewer (MeV) and candidate miRNAs were determined according to fold change (more than 2.0 or less than -2.0). The validation of differentially expressed miRNAs was done by qRT-PCR. Then we performed pathway analyses with using bioinformatics tools. RESULTS: 14 miRNAs were found to be significant among groups through the analysis with MeV. miR-20a-5p, miR-197-3p, let-7d-3p and miR-574-3p were found to be associated with inflammatory pathway related genes according to DAVID analysis. MiR-20a-5p (FDR: 0,00, FCH: 5.55) was significantly up regulated whereas miR-197-3p (FDR: 0,00, FCH: -2.27) was down regulated in homozygotes patients. Both let-7d-3p (FDR: 0.00, FCH: 28.75) and miR-574-3p (FDR: 0.00, FCH: 3.95) were up regulated in heterozygote patients group. CONCLUSIONS: We showed that there are several differentially expressed miRNAs both in homozygote and heterozygote FMF patients compared to controls and healthy carriers. Thus we suggest that these miRNAs, related with inflammatory pathways may be responsible for the expression of the disease in FMF.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/genética
MicroRNAs/genética
Transcriptoma
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Biologia Computacional
Bases de Dados Genéticas
Febre Familiar do Mediterrâneo/diagnóstico
Feminino
Perfilação da Expressão Gênica/métodos
Redes Reguladoras de Genes
Estudos de Associação Genética
Predisposição Genética para Doença
Heterozigoto
Homozigoto
Seres Humanos
Masculino
Mutação
Análise de Sequência com Séries de Oligonucleotídeos
Fenótipo
Pirina/genética
Reação em Cadeia da Polimerase em Tempo Real
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MEFV protein, human); 0 (MicroRNAs); 0 (Pyrin)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE


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[PMID]:29178647
[Au] Autor:Moradian MM; Babikyan D; Banoian D; Hayrapetyan H; Manvelyan H; Avanesian N; Sarkisian T
[Ad] Endereço:Department of Molecular Genetics, Morava Scientific & Technology Services, Glendale, California.
[Ti] Título:Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.
[So] Source:Mol Genet Genomic Med;5(6):742-750, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. METHODS: In this study, we analyzed the mutations that have been reported in the MEFV gene from symptomatic FMF patients and compared their frequencies in different populations from the 1000 Genome and the Exome databases, using statistical clustering. We also analyzed the nucleotide and amino acid substitution patterns across the MEFV gene. RESULTS: We found 16 (8%) nonsynonymous mutations outside exon 10 that did not cluster with known disease-causing mutations (DCMs), due to their high frequencies in other populations. We also studied the substitution patterns for nucleotides and amino acids to determine the conserved and variable regions in the MEFV gene. In general more nonsynonymous substitutions were reported in exons 2, 3, and 10 from the FMF database (symptomatic FMF patients) compared to the 1000 Genome and the Exome databases. The same was true for amino acid (AA) substitutions where there were 1.5 times more radical (RAD) to conservative (CON) changes. However, when it came to AA substitutions exon 10 was quite conserved with a RAD/CON ratio of 0.9. In fact, we report that the most severe FMF symptoms are caused by conservative mutations in two highly conserved exon 10 regions. CONCLUSION: We found presumptive FMF-causing mutations that did not cluster with DCMs based on their allele frequencies. We also observed that the type of mutation is less likely to determine the severity of the FMF symptoms; rather it was the location of the mutations that was the determining factor.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/genética
Pirina/genética
[Mh] Termos MeSH secundário: Animais
Análise por Conglomerados
Bases de Dados Genéticas
Evolução Molecular
Éxons
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/patologia
Frequência do Gene
Seres Humanos
Polimorfismo Genético
Índice de Gravidade de Doença
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MEFV protein, human); 0 (Pyrin)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.336


  5 / 3037 MEDLINE  
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[PMID]:28466819
[Au] Autor:Mahfouz R; Kreidieh K; Khalek RA; Yazbek S
[Ad] Endereço:Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
[Ti] Título:Familial Mediterranean Fever: Observations from a pilot gene expression microarray analysis study.
[So] Source:Cell Mol Biol (Noisy-le-grand);63(3):26-28, 2017 Mar 31.
[Is] ISSN:1165-158X
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease affecting people of Mediterranean ancestry. The disease is caused by mutations in the MEFV gene located on chromosome 16p13.3. The aim of this pilot study was to assess global gene expression and identify genes and pathways involved in FMF that could be downstream to MEFV mutations or could be novel involved. EDTA blood samples were collected from 14 patients showing FMF-like symptoms and age-matched to 7 controls showing healthy conditions. Microarray was used to assess global gene expression and identify genes and pathways involved in FMF. When we compared individuals with MEFV mutations (homozygous and heterozygous) to control group, probe sets of receptor proteins HLA-DQA1 and HLA-DQB1 were significantly over expressed by 5 folds  among the patients group. Despite its limitations, this pilot study could strongly suggest that the role of HLA be investigated in the pathogenesis of MEFV mutation and as a potential moderator explaining penetrance and variation in symptoms among patient groups.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/genética
Regulação da Expressão Gênica
Predisposição Genética para Doença
Análise de Sequência com Séries de Oligonucleotídeos
[Mh] Termos MeSH secundário: Pressão Sanguínea/genética
Febre Familiar do Mediterrâneo/fisiopatologia
Feminino
Cadeias alfa de HLA-DQ/genética
Cadeias beta de HLA-DQ/genética
Seres Humanos
Masculino
Projetos Piloto
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HLA-DQ alpha-Chains); 0 (HLA-DQ beta-Chains); 0 (HLA-DQA1 antigen); 0 (HLA-DQB1 antigen)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180115
[Lr] Data última revisão:
180115
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.14715/cmb/2017.63.3.5


  6 / 3037 MEDLINE  
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[PMID]:29080837
[Au] Autor:Procopio V; Manti S; Bianco G; Conti G; Romeo A; Maimone F; Arrigo T; Cutrupi MC; Salpietro C; Cuppari C
[Ad] Endereço:Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy.
[Ti] Título:Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?
[So] Source:Gene;641:279-286, 2018 Jan 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Uncertainty remains on the pathogenetic mechanisms, model of inheritance as well as genotype-phenotype correlation of FMF disease. OBJECTIVE: To investigate the impact of genetic factors on the FMF phenotype and the disease inheritance model. METHODS: A total of 107 FMF patients were enrolled. Patients were diagnosed clinically. All patients underwent genetic analysis of the FMF locus on 16p13.3. RESULTS: 9 distinct mutations were detected. Specifically, the 85.98% of patients showed a heterozygous genotype. The most common genotypes were p.Met680Ile/wt and p.Met694Val/wt. The most frequent clinical findings were fever, abdominal pain, joint pain, thoracic pain, and erysipelas-like erythema. Analysis of clinical data did not detect any significant difference in clinical phenotype among heterozygous, homozygous as well as compound homozygous subjects, further supporting the evidence that, contrary to the recessive autosomal inheritance, heterozygous patients fulfilled the criteria of clinical FMF. Moreover, subjects with p.Met694Val/wt and p.Met680Ile/wt genotype reported the most severe clinical phenotype. p.Ala744Ser/wt, p.Glu148Gln/Met680Ile, p.Met680Ile/Met680Ile, p.Met680Ile/Met694Val, p.Pro369Ser/wt, p.Met694Ile/wt, p.Glu148Gln/Glu148Gln, p.Lys695Arg/wt resulted in 100% pathogenicity. CONCLUSIONS: The existence of a "non classic" autosomal recessive inheritance as well as of an "atypical" dominant autosomal inheritance with incomplete penetrance and variable expressivity cannot be excluded in FMF.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/genética
Genes Recessivos/genética
[Mh] Termos MeSH secundário: Feminino
Estudos de Associação Genética/métodos
Loci Gênicos/genética
Genótipo
Heterozigoto
Homozigoto
Seres Humanos
Masculino
Mutação/genética
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171030
[St] Status:MEDLINE


  7 / 3037 MEDLINE  
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[PMID]:28926523
[Au] Autor:Green H; Lichtenberg S; Rahamimov R; Livneh A; Chagnac A; Mor E; Rozen-Zvi B
[Ad] Endereço:1 Department of Internal Medicine B, Rabin Medical Center, Beilinson Campus, Petah-Tikva, Israel. 2 Department of Nephrology and Hypertension, Rabin Medical Center, Beilinson Campus, Petah-Tikva, Israel. 3 Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. 4 Department of Transplantation, Rabin Medical Center, Beilinson Campus, Petah- Tikva, Israel. 5 Department of Medicine and Heller Institute of Medical Research, Sehba Medical Center, Ramat-Gan, Israel.
[Ti] Título:Familial Mediterranean Fever Is Associated With Increased Mortality After Kidney Transplantation-A 19 Years' Single Center Experience.
[So] Source:Transplantation;101(10):2621-2626, 2017 Oct.
[Is] ISSN:1534-6080
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Current data regarding the outcome of kidney transplantation in patients with familial Mediterranean fever (FMF) who reach end-stage renal disease (ESRD) due to reactive amyloidosis A (AA) are scarce and inconclusive. METHODS: The outcomes of 20 patients with FMF and biopsy-proven AA amyloidosis that were transplanted between 1995 and 2014 were compared with 82 control patients (32 with diabetes mellitus and 50 with nondiabetic kidney disease). Major outcome data included overall patient and graft survivals. RESULTS: During a mean overall follow-up of 116.6 ± 67.5 months 11 patients (55%) with FMF died versus 26 patients (31%) in the control group. Median time of death for patients with FMF was 61 months (range, 16-81) after transplantation. Estimated 5-year, 10-year, and actuarial 15-year overall patients survival rates were 73%, 45%, and 39%, respectively, for patients with FMF, versus 84%, 68% and 63%, respectively, for the control group (P = 0.028). FMF was associated with more than twofold increased risk for death after transplantation, and with a threefold increased risk for hospitalization because of infections during the first year. Infections and cardiovascular disease were the cause of death in the majority of patients with FMF. Overall graft survival was similar between the groups. Recurrence of AA amyloidosis was diagnosed in 2 patients during the first year after transplantation. CONCLUSIONS: FMF is associated with increased risk of mortality after kidney transplantation.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/complicações
Previsões
Sobrevivência de Enxerto
Falência Renal Crônica/cirurgia
Transplante de Rim
Medição de Risco/métodos
[Mh] Termos MeSH secundário: Adulto
Febre Familiar do Mediterrâneo/mortalidade
Feminino
Seguimentos
Seres Humanos
Israel/epidemiologia
Falência Renal Crônica/etiologia
Falência Renal Crônica/mortalidade
Masculino
Meia-Idade
Estudos Retrospectivos
Fatores de Risco
Taxa de Sobrevida/tendências
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170920
[St] Status:MEDLINE
[do] DOI:10.1097/TP.0000000000001681


  8 / 3037 MEDLINE  
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[PMID]:28859624
[Au] Autor:Peces R; Afonso S; Peces C; Nevado J; Selgas R
[Ad] Endereço:Nephrology Department, La Paz University Hospital, IdiPAZ, Autonomous University, Madrid, Spain. ramon.peces@salud.madrid.org.
[Ti] Título:Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.
[So] Source:BMC Med Genet;18(1):97, 2017 Aug 31.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney. Subsequently, they were diagnosed with renal amyloidosis secondary to familial Mediterranean fever and were successfully treated with anakinra and colchicine. CASE PRESENTATION: Two brothers with familial Mediterranean fever and renal amyloidosis were the inadvertent donor and recipient, respectively, of a kidney. The recipient had presented recurrent acute febrile episodes of familial Mediterranean fever, developed nephrotic syndrome secondary to amyloidosis and needed bilateral nephrectomy and chronic dialysis. His elder brother, in apparent good health, donated his left kidney to his brother. Immediately after the kidney transplantation, both the donor and recipient presented massive proteinuria, impaired renal function and elevated serum amyloid A levels. Biopsies of the brothers' kidneys showed amyloidosis. Genetic studies thereafter revealed a homozygous variant for the MEFV gene (NM_000243.2.c.2082G > A; p.M694I) in both brothers. At this point, both the donor and recipient were treated with colchicine and anakinra, resulting in improved renal function, decreased proteinuria, undetectable serum amyloid A levels and stable renal function at 62 months of follow-up and no major adverse effects. CONCLUSIONS: In familial Mediterranean fever, analyses of the MEFV gene should be performed in potential live kidney donors from a direct family member (either between siblings or between parents and children). In addition, genetic studies are required when consanguinity is suspected between members involved in the living transplant. Finally, anakinra could be a safe adjuvant therapy combined with colchicine for patients with familial Mediterranean fever and amyloidosis, including those with successful kidney transplantation.
[Mh] Termos MeSH primário: Amiloidose/etiologia
Febre Familiar do Mediterrâneo/complicações
Nefropatias/etiologia
Transplante de Rim
[Mh] Termos MeSH secundário: Adulto
Amiloidose/diagnóstico
Colchicina/uso terapêutico
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre Familiar do Mediterrâneo/genética
Homozigoto
Seres Humanos
Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico
Nefropatias/cirurgia
Masculino
Meia-Idade
Mutação
Pirina/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Interleukin 1 Receptor Antagonist Protein); 0 (MEFV protein, human); 0 (Pyrin); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170902
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0457-9


  9 / 3037 MEDLINE  
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[PMID]:28859329
[Au] Autor:Knieper AM; Klotsche J; Lainka E; Berger T; Dressler F; Jansson AF; Rietschel C; Oommen PT; Berendes R; Niehues T; Neudorf U; Foell D; Wittkowski H; Kallinich T
[Ad] Endereço:Pediatric Pneumology and Immunology, Charité University Medicine Berlin.
[Ti] Título:Familial Mediterranean fever in children and adolescents: factors for colchicine dosage and predicting parameters for dose increase.
[So] Source:Rheumatology (Oxford);56(9):1597-1606, 2017 Sep 01.
[Is] ISSN:1462-0332
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objectives: The aim was to analyse factors influencing the individual colchicine dose in children with FMF, to evaluate the impact of dose adjustment on the clinical course and inflammation and to identify clinical parameters and biomarkers that predict dose increase in the near future. Methods: Data from 409 paediatric FMF patients (4566 visits) derived from the national auto-inflammatory diseases registry were analysed. Serum concentrations of S100 molecules were determined by ELISA. Results: The age-dependent colchicine dose is influenced by the present genotype. The body surface area is the anthropometric parameter that correlates best with the applied dosages. Colchicine introduction and dose increase lead to significant reduction of clinical symptoms and inflammation. During established colchicine therapy, an increase of one single biomarker increases the likelihood of a dose increment in the next 12 months with a factor of 1.62-1.94. A combination of biomarkers including S100 molecules increases this odds ratio up to 4.66 when analysing all patients and up to 7.27 when analysing patients with a high risk of severe disease. Conclusion: Colchicine therapy is currently guided mainly by the occurrence of clinical symptoms and serological inflammation. Other factors, such as the genotype, the body surface area and biomarkers, will help to manage colchicine therapy in a more individualized fashion. The additional analysis of S100 molecules as sensitive biomarkers will help to identify patients at risk for dose increases in the near future.
[Mh] Termos MeSH primário: Colchicina/administração & dosagem
Febre Familiar do Mediterrâneo/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Fatores Etários
Antropometria/métodos
Biomarcadores/sangue
Superfície Corporal
Criança
Pré-Escolar
Colchicina/efeitos adversos
Colchicina/uso terapêutico
Relação Dose-Resposta a Droga
Esquema de Medicação
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/genética
Feminino
Genótipo
Seres Humanos
Masculino
Prognóstico
Sistema de Registros
Proteínas S100/sangue
Índice de Gravidade de Doença
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (S100 Proteins); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170927
[Lr] Data última revisão:
170927
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170902
[St] Status:MEDLINE
[do] DOI:10.1093/rheumatology/kex222


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[PMID]:28800602
[Au] Autor:Zhong L; Song H; Wang W; Li J; Ma M
[Ad] Endereço:Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
[Ti] Título:MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis.
[So] Source:PLoS One;12(8):e0182967, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. METHODS: Two investigators independently searched the literature regarding the association of MEFV with AS in the PubMed, EMBASE, Web of Science, and Scopus databases. They independently selected eligible articles and then extracted data from the included studies. The associations between MEFV mutations and AS risk were assessed with odds ratios (ORs) and 95% confidence intervals (95% CI). Further analyses were conducted with STATA 12.0 software (Stata Corp.; College Station, Texas, USA). RESULTS: Four mutations (E148Q, M680I, M694V and V726A) were genotyped in 869 AS cases and 879 controls from the 8 eligible studies. Of the four mutations, M694V (pooled OR: 3.330, 95% CI: 2.129-5.208) was found to be associated with AS through overall analysis. However, the other mutations demonstrated no relation with AS (pooled ORs: 1.295, 1.258, 1.778; 95% CI: 0.886-1.891, 0.688-2.298 and 0.938-3.371). No significant publication bias was discovered in the meta-analysis. CONCLUSIONS: The present study indicates that the MEFV M694V mutation may contribute to the pathogenesis of AS. The associations between the other mutations and AS need to be validated with more relevant and well-designed studies.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/genética
Predisposição Genética para Doença
Mutação
Pirina/genética
Espondilite Anquilosante/genética
[Mh] Termos MeSH secundário: Adulto
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/imunologia
Feminino
Expressão Gênica
Seres Humanos
Masculino
Razão de Chances
Pirina/imunologia
Espondilite Anquilosante/diagnóstico
Espondilite Anquilosante/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Nome de substância:
0 (MEFV protein, human); 0 (Pyrin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170812
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0182967



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