Base de dados : MEDLINE
Pesquisa : D12.776.220.909 [Categoria DeCS]
Referências encontradas : 763 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 77 ir para página                         

  1 / 763 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
[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


  2 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  3 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28465465
[Au] Autor:Stutz A; Kolbe CC; Stahl R; Horvath GL; Franklin BS; van Ray O; Brinkschulte R; Geyer M; Meissner F; Latz E
[Ad] Endereço:Institute of Innate Immunity, University Hospital, University of Bonn, 53127 Bonn, Germany.
[Ti] Título:NLRP3 inflammasome assembly is regulated by phosphorylation of the pyrin domain.
[So] Source:J Exp Med;214(6):1725-1736, 2017 Jun 05.
[Is] ISSN:1540-9538
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:NLRP3 is a cytosolic pattern recognition receptor that senses microbes and endogenous danger signals. Upon activation, NLRP3 forms an inflammasome with the adapter ASC, resulting in caspase-1 activation, release of proinflammatory cytokines and cell death. How NLRP3 activation is regulated by transcriptional and posttranslational mechanisms to prevent aberrant activation remains incompletely understood. Here, we identify three conserved phosphorylation sites in NLRP3 and demonstrate that NLRP3 activation is controlled by phosphorylation of its pyrin domain (PYD). Phosphomimetic residues in NLRP3 PYD abrogate inflammasome activation and structural modeling indicates that phosphorylation of the PYD regulates charge-charge interaction between two PYDs that are essential for NLRP3 activation. Phosphatase 2A (PP2A) inhibition or knock-down drastically reduces NLRP3 activation, showing that PP2A can license inflammasome assembly via dephosphorylating NLRP3 PYD. These results propose that the balance between kinases and phosphatases acting on the NLRP3 PYD is critical for NLRP3 activation.
[Mh] Termos MeSH primário: Inflamassomos/metabolismo
Proteína 3 que Contém Domínio de Pirina da Família NLR/química
Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo
Pirina/química
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Células HEK293
Seres Humanos
Camundongos
Modelos Biológicos
Modelos Moleculares
Fosforilação
Fosfosserina/metabolismo
Ligação Proteica
Domínios Proteicos
Proteína Fosfatase 2/metabolismo
Relação Estrutura-Atividade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Inflammasomes); 0 (NLR Family, Pyrin Domain-Containing 3 Protein); 0 (Nlrp3 protein, mouse); 0 (Pyrin); 17885-08-4 (Phosphoserine); EC 3.1.3.16 (Protein Phosphatase 2)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171205
[Lr] Data última revisão:
171205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1084/jem.20160933


  4 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  5 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  6 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28629316
[Au] Autor:Ozturk AR; Can T
[Ad] Endereço:Middle East Technical University, Informatics Institute, Ankara, Turkey. ahmetrasit@gmail.com.
[Ti] Título:A multiplex primer design algorithm for target amplification of continuous genomic regions.
[So] Source:BMC Bioinformatics;18(1):306, 2017 Jun 19.
[Is] ISSN:1471-2105
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Targeted Next Generation Sequencing (NGS) assays are cost-efficient and reliable alternatives to Sanger sequencing. For sequencing of very large set of genes, the target enrichment approach is suitable. However, for smaller genomic regions, the target amplification method is more efficient than both the target enrichment method and Sanger sequencing. The major difficulty of the target amplification method is the preparation of amplicons, regarding required time, equipment, and labor. Multiplex PCR (MPCR) is a good solution for the mentioned problems. RESULTS: We propose a novel method to design MPCR primers for a continuous genomic region, following the best practices of clinically reliable PCR design processes. On an experimental setup with 48 different combinations of factors, we have shown that multiple parameters might effect finding the first feasible solution. Increasing the length of the initial primer candidate selection sequence gives better results whereas waiting for a longer time to find the first feasible solution does not have a significant impact. CONCLUSIONS: We generated MPCR primer designs for the HBB whole gene, MEFV coding regions, and human exons between 2000 bp to 2100 bp-long. Our benchmarking experiments show that the proposed MPCR approach is able produce reliable NGS assay primers for a given sequence in a reasonable amount of time.
[Mh] Termos MeSH primário: Algoritmos
Primers do DNA/metabolismo
DNA/metabolismo
Reação em Cadeia da Polimerase Multiplex/métodos
[Mh] Termos MeSH secundário: DNA/química
Primers do DNA/química
Éxons
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Pirina/química
Pirina/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA Primers); 0 (MEFV protein, human); 0 (Pyrin); 9007-49-2 (DNA)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170621
[St] Status:MEDLINE
[do] DOI:10.1186/s12859-017-1716-7


  7 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28539550
[Au] Autor:Ogita C; Matsui K; Kisida D; Yazaki M; Nakamura A; Kaku S; Makino H; Tadokoro R; Azuma K; Tsuboi K; Tani M; Tamura M; Yoshikawa T; Morimoto M; Nishioka A; Sekiguchi M; Azuma N; Kitano M; Tsunoda S; Sawai H; Sano H
[Ad] Endereço:Division of Rheumatology, Department of Internal Medicine, Hyogo College of Medicine.
[Ti] Título:A retrospective analysis of 7 cases of familial mediterranean fever.
[So] Source:Nihon Rinsho Meneki Gakkai Kaishi;40(1):21-27, 2017.
[Is] ISSN:1349-7413
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:BACKGROUND: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time. PATIENTS AND METHODS: We examined cases in which symptoms considered periodic seizures were repeated, excluding autoimmune diseases, infectious diseases, and malignant tumors. In both cases, genetic analysis is performed as auxiliary diagnosis. RESULTS: Seven cases satisfied the Tel-Hashomer criteria criteria and MEFV gene mutation was detected. Everyone was a female, and half had seizure symptoms at menstruation. Even though there is a difference in the amount of colchicine to be used, either one is effective. CONCLUSION: In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo
[Mh] Termos MeSH secundário: Adulto
Colchicina/administração & dosagem
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre Familiar do Mediterrâneo/genética
Febre Familiar do Mediterrâneo/fisiopatologia
Feminino
Seres Humanos
Mutação
Periodicidade
Pirina/genética
Estudos Retrospectivos
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (MEFV protein, human); 0 (Pyrin); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171015
[Lr] Data última revisão:
171015
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.2177/jsci.40.21


  8 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28483595
[Au] Autor:Cekin N; Akyurek ME; Pinarbasi E; Ozen F
[Ad] Endereço:Department of Medical Biology, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
[Ti] Título:MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever.
[So] Source:Gene;626:9-13, 2017 Aug 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Familial Mediterranean fever is a common hereditary disease in Turkey. To date, different mutational spectrum of MEFV gene was observed in studies carried out in different regions of Turkey but in most of these studies association of clinical symptoms of FMF to mutant genotypes have not been investigated in details. Here we report the MEFV gene variations in exons 2, 3, 5 and 10 and their relations to major clinical symptoms of FMF in 514 unrelated (245 males and 269 females) Turkish patients. MEFV mutations were found in 45% (n=230) of patients and 55% (n=284) of patients did not have any mutations. One hundred and thirty-seven (60%) patients were heterozygous, 57 (24.7%) patients were compound heterozygous, 33 (14%) patients were homozygous and 3 (1.3%) patients were having a complex genotype. Allele frequencies of MEFV mutations were M694V (48%), E148Q (18%), M680I (15%), V726A (12.5%), P369S (3.3%), R761H (0.9), K695R (0.9), E148V (0.9) and A744S (0.5%). Abdominal pain (76%) and fever (58%) were two most seen complications among patients followed by arthritis (28%) and chest pain (19%). Almost all major clinical symptoms of FMF were higher in patients with one or more M694V or M680I mutant allele. In contrast, patients having E148Q or V726A mutant allele showed fewer clinical FMF symptoms. Patients with P369S have higher abdominal pain, chest pain and fever than expected. Arthritis was high in K695R heterozygous genotype. One hundred and eighteen patients were carrying more than one polymorphic allele. The most common polymorphism was R202Q (13%). In addition, a novel heterozygous polymorphism at 564th nucleotide (C>T) of exon2 were found in 2 patients.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/genética
Mutação de Sentido Incorreto
Pirina/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Artrite/etiologia
Artrite/genética
Estudos de Casos e Controles
Criança
Pré-Escolar
Éxons
Febre Familiar do Mediterrâneo/complicações
Febre Familiar do Mediterrâneo/diagnóstico
Feminino
Heterozigoto
Homozigoto
Seres Humanos
Masculino
Taxa de Mutação
Dor/etiologia
Dor/genética
Fenótipo
Polimorfismo de Nucleotídeo Único
Turquia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MEFV protein, human); 0 (Pyrin)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170727
[Lr] Data última revisão:
170727
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170510
[St] Status:MEDLINE


  9 / 763 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28340799
[Au] Autor:Karakose S; Erdogmus S; Akturk S; Tuzuner A; Sengul S; Keven K
[Ad] Endereço:Department of Nephrology, Ankara Training and Research Hospital, Ankara, Turkey. Electronic address: suleymankarakose@yahoo.com.
[Ti] Título:Is There a Long-Term Risk for Donors With Heterozygous MEFV Mutation After Kidney Donation?
[So] Source:Transplant Proc;49(3):399-402, 2017 Apr.
[Is] ISSN:1873-2623
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disorder manifested severely by systemic amyloidosis. It has been hypothesized that heterozygous carriers may also have susceptibility to certain symptoms or even diseases. Because the living kidney donors of patients with FMF are generally relatives of the kidney recipients, there is a high possibility that the donors will have a heterozygous mutation of the FMF gene. The goal of this study was to investigate the long-term kidney function of donors who are carriers of the Mediterranean fever (MEFV) gene. METHODS: The medium- to long-term outcomes of 12 asymptomatic donors were compared with MEFV gene carriers and 24 non-FMF recipients' donors. RESULTS: Heterozygous carriers and the control group were similar with respect to age, sex, and follow-up period. The preoperative estimated glomerular filtration rate and 24-hour urine proteinuria levels were similar in the MEFV carrier and control groups. Four years after the donation, both groups had similar estimated glomerular filtration rates, but the change in 24-hour urine protein was statistically higher in the MEFV carrier group, and no significant change was observed in the control group (P = .004). At the end of the follow-up period, neither overt proteinuria nor kidney failure was seen in either group. CONCLUSIONS: This study showed that the medium- to long-term results of the kidney donors who are carriers of the MEFV gene seem to be safe. However, there was more of a tendency for an increase in proteinuria in the MEFV gene carriers compared with control subjects, which necessitated further long-term care for these donors.
[Mh] Termos MeSH primário: Heterozigoto
Doadores Vivos
Mutação
Proteinúria
Pirina/genética
[Mh] Termos MeSH secundário: Adulto
Febre Familiar do Mediterrâneo/genética
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Complicações Pós-Operatórias
Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MEFV protein, human); 0 (Pyrin)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170529
[Lr] Data última revisão:
170529
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170326
[St] Status:MEDLINE


  10 / 763 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
[PMID]:28260482
[Au] Autor:Tatar E; Uslu A; Simsek C; Aykas A; Bozkaya G; Imamoglu C
[Ad] Endereço:Department of Nephrology, Izmir Bozyaka Education and Research Hospital, Izmir, Turkey.
[Ti] Título:Late Diagnosis of E148Q Mutation-Positive Familial Mediterranean Fever in a Kidney Transplant Patient With Fever of Unknown Origin: A Case Report.
[So] Source:Exp Clin Transplant;15(Suppl 1):261-264, 2017 Feb.
[Is] ISSN:2146-8427
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Fever of unknown origin is a rare condition after solid organ transplant and is generally associated with atypical infections (eg, tuberculosis, fungal infections) and/or lymphoproliferative disorders. Here, we present a kidney transplant patient with a late diagnosis of E148Q mutation-positive familial Mediterranean fever as the cause of fever of unknown origin. A 22-year-old female patient with a previous history of 4 years of hemodialysis and unknown primary renal disease received a deceased-donor kidney transplant at our center 5 years previously. She had an uneventful course in the first 3 years following transplant. After this period, she was hospitalized 3 times during a 4-month period with fever, nausea, vomiting, and atypical abdominal pain. At that time, hemogram results were unremarkable, except for mild leukocytosis and slightly elevated acute-phase reactants; blood, urine, and throat cultures were negative, and there were no remarkable findings on imaging tests. Fever was controlled within 48 hours by administering empiric ampicillin-sulbactam therapy and discontinuing immunosuppressive treatment except steroids. Three successive hospital admissions owing to similar complaints suggested periodic fever syndrome, and therapy with 1 g/day colchicine led to an excellent clinical response with no recurrence of fever or other symptoms. An FMF gene mutation analysis revealed heterozygous E148Q mutation positivity. Continuing the current treatment regimen, the patient did well during at approximately 1.5 years of follow-up. In the Mediterranean region population, familial Mediterranean fever should be considered in the diagnosis of fever of unknown origin in patients who have undergone renal transplant. E148Q mutation-positive familial Mediterranean fever has a subclinical course and renal manifestations that differ from AA amyloidosis during childhood and may be responsible for de novo familial Mediterranean fever after renal transplantation.
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/genética
Febre de Causa Desconhecida/genética
Transplante de Rim/efeitos adversos
Mutação
Pirina/genética
[Mh] Termos MeSH secundário: Colchicina/uso terapêutico
Análise Mutacional de DNA
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Feminino
Febre de Causa Desconhecida/diagnóstico
Febre de Causa Desconhecida/tratamento farmacológico
Predisposição Genética para Doença
Seres Humanos
Fenótipo
Fatores de Risco
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MEFV protein, human); 0 (Pyrin); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170307
[St] Status:MEDLINE



página 1 de 77 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde