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[PMID]:28603204
[Au] Autor:Yamashita Y; Matsumoto S; Hiramoto R; Komori I; Tanaka T; Nishikomori R; Heike T; Umetsu S; Inui A
[Ad] Endereço:Department of Pediatrics, Matsudo City Hospital Children's Medical Centre.
[Ti] Título:A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
[So] Source:Nihon Rinsho Meneki Gakkai Kaishi;40(2):131-137, 2017.
[Is] ISSN:1349-7413
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:We experienced a 6-year-old girl diagnosed with mevalonate kinase deficiency (MKD) who had cholestasis, anemia, and elevated inflammatory markers in neonatal period. She was admitted to our hospital because of fever and elevated inflammatory markers at 5 years 11months of age. Without using antibiotics, the fever and the inflammatory markers were spontaneously resolved. MKD was suspected from elevated serum IgD level and the recurrent febrile attacks. The genetic test revealed heterozygous mutation of p.Leu51Phe known as causative gene of MKD and p.Met 282Thr which is the novel mutation. In addition, urinary mevalonate levels increased both in afebrile and febrile periods, and mevalonate kinase activity level was very low. Prednisolone was administered on each attack, and her febrile attack has been controlled well since she was diagnosed with MKD. Fetal edema, cholestasis, anemia, elevation of inflammatory markers in her neonatal period are considered to be complications of MKD. Recurrent fever attacks compromise quality of life in patients with MKD. Children with unexplained cholestasis and anemia in neonatal period, or recurrent fever attacks with elevated inflammatory markers should be examined for MKD.
[Mh] Termos MeSH primário: Colestase/etiologia
Edema/etiologia
Deficiência de Mevalonato Quinase/complicações
Deficiência de Mevalonato Quinase/diagnóstico
[Mh] Termos MeSH secundário: Anemia/etiologia
Biomarcadores/sangue
Biomarcadores/urina
Criança
Feminino
Testes Genéticos
Seres Humanos
Imunoglobulina D/sangue
Deficiência de Mevalonato Quinase/tratamento farmacológico
Deficiência de Mevalonato Quinase/genética
Ácido Mevalônico/urina
Mutação
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Prednisolona/administração & dosagem
Febre Recorrente/etiologia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Immunoglobulin D); 9PHQ9Y1OLM (Prednisolone); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.36 (mevalonate kinase); S5UOB36OCZ (Mevalonic Acid)
[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:170613
[St] Status:MEDLINE
[do] DOI:10.2177/jsci.40.131


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[PMID]:28497352
[Au] Autor:Ozen S; Demir S
[Ad] Endereço:Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey. sezaozen@hacettepe.edu.tr.
[Ti] Título:Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient.
[So] Source:Paediatr Drugs;19(4):303-311, 2017 Aug.
[Is] ISSN:1179-2019
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD). Recent advances in our understanding of the molecular and pathophysiological basis of autoinflammatory diseases have provided new treatment strategies. Patients with periodic fever syndromes have clearly benefited from anti-interleukin (IL)-1 treatment. Colchicine is still the mainstay of FMF therapy, but IL-1 blockade is also effective if colchicine fails. Early diagnosis and effective treatment can prevent irreversible organ damage. The scope of pathogenic mutations and more targeted therapy for better management of these rare diseases remains to be defined.
[Mh] Termos MeSH primário: Doenças Hereditárias Autoinflamatórias/tratamento farmacológico
[Mh] Termos MeSH secundário: Anticorpos Monoclonais/uso terapêutico
Criança
Colchicina/uso terapêutico
Síndromes Periódicas Associadas à Criopirina/diagnóstico
Síndromes Periódicas Associadas à Criopirina/tratamento farmacológico
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre/diagnóstico
Febre/tratamento farmacológico
Doenças Hereditárias Autoinflamatórias/diagnóstico
Seres Humanos
Interleucina-1/antagonistas & inibidores
Interleucina-1/imunologia
Deficiência de Mevalonato Quinase/diagnóstico
Deficiência de Mevalonato Quinase/tratamento farmacológico
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Interleukin-1); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.1007/s40272-017-0232-6


  3 / 164 MEDLINE  
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[PMID]:28482144
[Au] Autor:Arostegui JI; Anton J; Calvo I; Robles A; Iglesias E; López-Montesinos B; Banchereau R; Hong S; Joubert Y; Junge G; Pascual V; Yagüe J
[Ad] Endereço:Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
[Ti] Título:Open-Label, Phase II Study to Assess the Efficacy and Safety of Canakinumab Treatment in Active Hyperimmunoglobulinemia D With Periodic Fever Syndrome.
[So] Source:Arthritis Rheumatol;69(8):1679-1688, 2017 Aug.
[Is] ISSN:2326-5205
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the efficacy and safety of canakinumab treatment in active hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). METHODS: This was a 3-part open-label study with an initial 6-month treatment period in which patients with HIDS (n = 9) received canakinumab subcutaneously at a dose of 300 mg (or 4 mg/kg for those weighing ≤40 kg) every 6 weeks (period 1 [P1]), followed by a 6-month withdrawal period (period 2 [P2]), and then a 24-month extension treatment period with canakinumab at the same dose (period 3 [P3]). The primary end point was reduction in the frequency of attacks during treatment periods as compared to the historical period (HP; defined as the period in which patients did not receive drugs other than nonsteroidal antiinflammatory drugs and/or steroids). RESULTS: All 9 patients completed P1 and P2, whereas only 8 patients completed P3. All patients achieved a complete response during P1, and only 2 required dose adjustments. The number of attacks per patient decreased from a median of 5 (range 3-12) during the HP to a median of 0 (range 0-2) during P1. During P2, 7 of 9 patients experienced a disease flare within a median of 110 days (range 62-196) after the last canakinumab dose. Laboratory findings were normalized by day 15 of treatment and remained at normal levels throughout the study. Analysis of blood transcriptome profiles, assessed during P1, showed up-regulated levels of interferon and myeloid-related inflammatory responses in untreated patients compared to healthy controls, and these rapidly decreased following canakinumab injection, reaching levels comparable to those of healthy controls. At least 1 adverse event (AE) was detected in all 9 patients. Most of the AEs were mild in intensity, with infections being the most frequent AE. Serious AEs were reported in 4 patients. CONCLUSION: The results of this study demonstrate the efficacy and safety of canakinumab treatment to control active HIDS and to suppress inflammation-related transcriptional responses.
[Mh] Termos MeSH primário: Anticorpos Monoclonais/uso terapêutico
Deficiência de Mevalonato Quinase/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Feminino
Expressão Gênica
Seres Humanos
Interferons/genética
Interferons/imunologia
Masculino
Deficiência de Mevalonato Quinase/genética
Deficiência de Mevalonato Quinase/imunologia
Projetos Piloto
Indução de Remissão
Espanha
Resultado do Tratamento
Regulação para Cima
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE II; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 37CQ2C7X93 (canakinumab); 9008-11-1 (Interferons)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170509
[St] Status:MEDLINE
[do] DOI:10.1002/art.40146


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[PMID]:28359055
[Au] Autor:Tricarico PM; Romeo A; Gratton R; Crovella S; Celsi F
[Ad] Endereço:Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Trieste, Italy.
[Ti] Título:Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
[So] Source:Cell Physiol Biochem;41(4):1649-1660, 2017.
[Is] ISSN:1421-9778
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIMS: Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be fully elucidated. Deficiency of prenylated proteins has been hypothesized as possible MKD pathogenic mechanism. Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines. METHODS: SH-SY5Y cells were transiently transfected, with the pCMV-6 plasmid containing MVK wild type and the two mutated sequences. Protein prenylation levels were evaluated using GFP-RhoA-F to assess farnesylation, and GFP-RhoA to evaluate geranylgeranylation; autophagy was measured by evaluating LC3 and p62 protein levels, while Annexin V-FITC and Propidium Iodide staining allowed apoptosis detection. RESULTS: MVK mutants' over-expression causes decreased levels of farnesylation and geranylgeranylation, and also increased LC3 lipidation in SH-SY5Y, with concomitant p62 accumulation. Treatment with bafilomycin A1 (an inhibitor of vacuolar H+-ATPase, a late autophagy inhibitor) further increase LC3-II and p62 levels, suggesting that degradation of autophagolysosome could be impaired. SH-SY5Y, with both MVK mutants, showed apoptosis increase; the presence of N301T associated with augmented cell death. CONCLUSIONS: We hypothesize that mevalonate pathway impairment causes alteration of farnesylation and geranylgeranylation proteins and alteration of the autophagic flux; these changes can induce apoptosis, possibly more relevant in the presence of N301T mutation.
[Mh] Termos MeSH primário: Apoptose
Autofagia
Deficiência de Mevalonato Quinase/metabolismo
Modelos Biológicos
Prenilação de Proteína
[Mh] Termos MeSH secundário: Animais
Linhagem Celular Tumoral
Macrolídeos/farmacologia
Deficiência de Mevalonato Quinase/genética
Deficiência de Mevalonato Quinase/patologia
Proteínas Associadas aos Microtúbulos/genética
Proteínas Associadas aos Microtúbulos/metabolismo
Mutação
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Fosfotransferases (Aceptor do Grupo Álcool)/metabolismo
Ratos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (LC3 protein, rat); 0 (Macrolides); 0 (Microtubule-Associated Proteins); 88899-55-2 (bafilomycin A1); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.36 (mevalonate kinase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170621
[Lr] Data última revisão:
170621
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170331
[St] Status:MEDLINE
[do] DOI:10.1159/000471235


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[PMID]:27906774
[Au] Autor:Aksentijevich I; McDermott MF
[Ad] Endereço:aInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA bNIHR National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (NIHR-LMBRU) and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, UK.
[Ti] Título:Lessons from characterization and treatment of the autoinflammatory syndromes.
[So] Source:Curr Opin Rheumatol;29(2):187-194, 2017 Mar.
[Is] ISSN:1531-6963
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE OF REVIEW: The list of genes associated with systemic inflammatory diseases has been steadily growing because of the explosion of new genomic technologies. Significant advances in the past year have deepened our understanding of the molecular mechanisms linked to inflammation and elucidated insights on the efficacy of specific therapies for these and related conditions. We review the molecular pathogenesis of four recently characterized monogenic autoinflammatory diseases: haploinsufficiency of A20, otulipenia, a severe form of pyrin-associated disease, and a monogenic form of systemic juvenile idiopathic arthritis. RECENT FINDINGS: The scope of autoinflammation has been broadened to include defects in deubiquitination and cellular redox homeostasis. At the clinical level, we discuss the biological rationale for treatment with cytokine inhibitors and colchicine in respective conditions and the use of interleukin-1 antagonism for diagnostic and therapeutic purposes in the management of undifferentiated autoinflammatory disorders. SUMMARY: Gene discoveries coupled with studies of molecular function provide knowledge into the biology of inflammatory responses and form the basis for genomically informed therapies. Diseases of dysregulated ubiquitination constitute a novel category of human inflammatory disorders.
[Mh] Termos MeSH primário: Antirreumáticos/uso terapêutico
Colchicina/uso terapêutico
Doenças Hereditárias Autoinflamatórias/tratamento farmacológico
Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico
Moduladores de Tubulina/uso terapêutico
[Mh] Termos MeSH secundário: Artrite Juvenil/tratamento farmacológico
Artrite Juvenil/genética
Endopeptidases/genética
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre Familiar do Mediterrâneo/genética
Haploinsuficiência
Doenças Hereditárias Autoinflamatórias/genética
Seres Humanos
Deficiência de Mevalonato Quinase/tratamento farmacológico
Deficiência de Mevalonato Quinase/genética
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Proteínas/genética
Pirina/genética
Proteína 3 Induzida por Fator de Necrose Tumoral alfa/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antirheumatic Agents); 0 (Interleukin 1 Receptor Antagonist Protein); 0 (LACC1 protein, human); 0 (MEFV protein, human); 0 (Proteins); 0 (Pyrin); 0 (Tubulin Modulators); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.36 (mevalonate kinase); EC 3.4.- (Endopeptidases); EC 3.4.- (gumby protein, human); EC 3.4.19.12 (TNFAIP3 protein, human); EC 3.4.19.12 (Tumor Necrosis Factor alpha-Induced Protein 3); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170720
[Lr] Data última revisão:
170720
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE
[do] DOI:10.1097/BOR.0000000000000362


  6 / 164 MEDLINE  
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[PMID]:27723279
[Au] Autor:Ozen S; Kuemmerle-Deschner JB; Cimaz R; Livneh A; Quartier P; Kone-Paut I; Zeft A; Spalding S; Gul A; Hentgen V; Savic S; Foeldvari I; Frenkel J; Cantarini L; Patel D; Weiss J; Marinsek N; Degun R; Lomax KG; Lachmann HJ
[Ad] Endereço:Hacettepe University, Ankara, Turkey.
[Ti] Título: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.
[So] Source:Arthritis Care Res (Hoboken);69(4):578-586, 2017 Apr.
[Is] ISSN:2151-4658
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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 necrosis factor receptor-associated periodic syndrome (TRAPS), and mevalonate kinase deficiency (MKD)/hyperimmunoglobulinemia D syndrome (HIDS). METHODS: PFS specialists at medical centers in the US, the European Union, and the eastern Mediterranean participated in a retrospective chart review, providing de-identified data in an electronic case report form. Patients were treated between 2008 and 2012, with at least 1 year of followup; all had clinical and/or genetically proven disease and were on/eligible for biologic treatment. RESULTS: A total of 134 patients were analyzed: FMF (n = 49), TRAPS (n = 47), and MKD/HIDS (n = 38). Fever was commonly reported as severe across all indications. Other frequently reported severe symptoms were serositis for FMF patients and elevated acute-phase reactants and gastrointestinal upset for TRAPS and MKD/HIDS. A long delay from disease onset to diagnosis was seen within TRAPS and MKD/HIDS (5.8 and 7.1 years, respectively) compared to a 1.8-year delay in FMF patients. An equal proportion of TRAPS patients first received anti-interleukin-1 (anti-IL-1) and anti-tumor necrosis factor (anti-TNF) biologic agents, whereas IL-1 blockade was the main choice for FMF patients resistant to colchicine and MKD/HIDS patients. For TRAPS patients, treatment with anakinra versus anti-TNF treatments as first biologic agent resulted in significantly higher clinical and biochemical responses (P = 0.03 and P < 0.01, respectively). No significant differences in responses were observed between biologic agents among other cohorts. CONCLUSION: Referral patterns and diagnostic delays highlight the need for greater awareness and improved diagnostics for PFS. This real-world treatment assessment supports the need for further refinement of treatment practices.
[Mh] Termos MeSH primário: Antirreumáticos/uso terapêutico
Produtos Biológicos/uso terapêutico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre/tratamento farmacológico
Doenças Hereditárias Autoinflamatórias/tratamento farmacológico
Deficiência de Mevalonato Quinase/tratamento farmacológico
Padrões de Prática Médica/tendências
Reumatologia/tendências
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Diagnóstico Tardio/tendências
Registros Eletrônicos de Saúde
Europa (Continente)/epidemiologia
Febre Familiar do Mediterrâneo/diagnóstico
Febre Familiar do Mediterrâneo/epidemiologia
Febre Familiar do Mediterrâneo/genética
Feminino
Febre/diagnóstico
Febre/epidemiologia
Febre/genética
Doenças Hereditárias Autoinflamatórias/diagnóstico
Doenças Hereditárias Autoinflamatórias/epidemiologia
Doenças Hereditárias Autoinflamatórias/genética
Seres Humanos
Lactente
Masculino
Deficiência de Mevalonato Quinase/diagnóstico
Deficiência de Mevalonato Quinase/epidemiologia
Deficiência de Mevalonato Quinase/genética
Meia-Idade
Valor Preditivo dos Testes
Encaminhamento e Consulta/tendências
Estudos Retrospectivos
Índice de Gravidade de Doença
Fatores de Tempo
Resultado do Tratamento
Estados Unidos/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Antirheumatic Agents); 0 (Biological Products)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161011
[St] Status:MEDLINE
[do] DOI:10.1002/acr.23120


  7 / 164 MEDLINE  
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[PMID]:27079959
[Au] Autor:Flores Robles BJ; Peiró Callizo ME; Sanabria Sanchinel AA; Fernández Díaz C
[Ad] Endereço:Servicio de Reumatología, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España. Electronic address: aldolsa@hotmail.com.
[Ti] Título:Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever.
[Ti] Título:Deficiencia de mevalonato quinasa (síndrome de hiper-IgD) y solapamiento con mutación de fiebre mediterránea familiar..
[So] Source:Reumatol Clin;13(1):57, 2017 Jan - Feb.
[Is] ISSN:1885-1398
[Cp] País de publicação:Spain
[La] Idioma:eng; spa
[Mh] Termos MeSH primário: Febre Familiar do Mediterrâneo/diagnóstico
Deficiência de Mevalonato Quinase/diagnóstico
Mutação
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Pirina/genética
[Mh] Termos MeSH secundário: Criança
Febre Familiar do Mediterrâneo/complicações
Febre Familiar do Mediterrâneo/genética
Marcadores Genéticos
Homozigoto
Seres Humanos
Masculino
Deficiência de Mevalonato Quinase/complicações
Deficiência de Mevalonato Quinase/genética
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Genetic Markers); 0 (MEFV protein, human); 0 (Pyrin); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.36 (mevalonate kinase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160416
[St] Status:MEDLINE


  8 / 164 MEDLINE  
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[PMID]:26758946
[Au] Autor:Muller AL; Freed DH
[Ti] Título:Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signaling Pathway.
[So] Source:Curr Mol Pharmacol;10(1):6-12, 2017.
[Is] ISSN:1874-4702
[Cp] País de publicação:United Arab Emirates
[La] Idioma:eng
[Ab] Resumo:Inhibition of hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase by pharmaceuticals, commonly referred to as statins, has proven to be an effective and efficient way in reducing cholesterol levels in patients. As a result of this intervention, mevalonate production, formed during cholesterol synthesis, is inhibited. Mevalonate is the precursor to a variety of crucial downstream products, including those involved with the mitochondrial electron transport chain, and localized activation of small GTPases. Statins have also been observed to induce changes of the immune system, favouring a reduced proinflammatory phenotype. However, near complete cessation of mevalonate and its downstream products have severe pro-inflammatory consequences as evident by patients suffering from mevalonate kinase deficiency who have increased inflammasome activity. It is evident that mevalonate production is a pivotal component of normal homeostatic cell processing, especially in maintaining a muted inflammatory response.
[Mh] Termos MeSH primário: Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia
Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico
Ácido Mevalônico/metabolismo
Transdução de Sinais
[Mh] Termos MeSH secundário: Colesterol/metabolismo
GTP Fosfo-Hidrolases/metabolismo
Seres Humanos
Hidroximetilglutaril-CoA Redutases/metabolismo
Inflamação/fisiopatologia
Deficiência de Mevalonato Quinase/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors); 97C5T2UQ7J (Cholesterol); EC 1.1.1.- (Hydroxymethylglutaryl CoA Reductases); EC 3.6.1.- (GTP Phosphohydrolases); S5UOB36OCZ (Mevalonic Acid)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170628
[Lr] Data última revisão:
170628
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160114
[St] Status:MEDLINE
[do] DOI:10.2174/1874467209666160112125805


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[PMID]:28129677
[Au] Autor:Azizi G; Khadem Azarian S; Nazeri S; Mosayebian A; Ghiasy S; Sadri G; Mohebi A; Khan Nazer NH; Afraei S; Mirshafiey A
[Ad] Endereço:Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran AND Research Centre for Immunodeficiencies, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Título:Monogenic Auto-inflammatory Syndromes: A Review of the Literature.
[So] Source:Iran J Allergy Asthma Immunol;15(6):430-444, 2016 Dec.
[Is] ISSN:1735-1502
[Cp] País de publicação:Iran
[La] Idioma:eng
[Ab] Resumo:Auto-inflammatory syndromes are a new group of distinct hereditable disorders characterized by episodes of seemingly unprovoked inflammation (most commonly in skin, joints, gut, and eye), the absence of a high titer of auto-antibodies or auto-reactive T cells, and an inborn error of innate immunity. A narrative literature review was carried out of studies related to auto-inflammatory syndromes to discuss the pathogenesis and clinical manifestation of these syndromes. This review showed that the main monogenic auto-inflammatory syndromes are familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), Blau syndrome, TNF receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), and pyogenic arthritis with pyoderma gangrenosum and acne (PAPA). The data suggest that correct diagnosis and treatment of monogenic auto-inflammatory diseases relies on the physicians' awareness. Therefore, understanding of the underlying pathogenic mechanisms of auto-inflammatory syndromes, and especially the fact that these disorders are mediated by IL-1 secretion stimulated by monocytes and macrophages, facilitated significant progress in patient management.
[Mh] Termos MeSH primário: Doenças Hereditárias Autoinflamatórias/imunologia
Interleucina-1/imunologia
Macrófagos/imunologia
Monócitos/imunologia
[Mh] Termos MeSH secundário: Acne Vulgar/tratamento farmacológico
Acne Vulgar/genética
Acne Vulgar/imunologia
Antirreumáticos/uso terapêutico
Artrite/tratamento farmacológico
Artrite/genética
Artrite/imunologia
Artrite Infecciosa/tratamento farmacológico
Artrite Infecciosa/genética
Artrite Infecciosa/imunologia
Síndromes Periódicas Associadas à Criopirina/tratamento farmacológico
Síndromes Periódicas Associadas à Criopirina/genética
Síndromes Periódicas Associadas à Criopirina/imunologia
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre Familiar do Mediterrâneo/genética
Febre Familiar do Mediterrâneo/imunologia
Doenças Hereditárias Autoinflamatórias/tratamento farmacológico
Doenças Hereditárias Autoinflamatórias/genética
Seres Humanos
Imunidade Inata/imunologia
Infliximab/uso terapêutico
Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico
Deficiência de Mevalonato Quinase/tratamento farmacológico
Deficiência de Mevalonato Quinase/genética
Deficiência de Mevalonato Quinase/imunologia
Pioderma Gangrenoso/tratamento farmacológico
Pioderma Gangrenoso/genética
Pioderma Gangrenoso/imunologia
Sinovite/tratamento farmacológico
Sinovite/genética
Sinovite/imunologia
Uveíte/tratamento farmacológico
Uveíte/genética
Uveíte/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antirheumatic Agents); 0 (Interleukin 1 Receptor Antagonist Protein); 0 (Interleukin-1); B72HH48FLU (Infliximab)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170129
[St] Status:MEDLINE


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[PMID]:27856657
[Au] Autor:van der Meer JW; Simon A
[Ad] Endereço:Department of Medicine and Nijmegen Institute for Infection, Inflammation and Immunity, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands jos.vandermeer@radboudumc.nl.
[Ti] Título:The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.
[So] Source:Rheumatology (Oxford);55(suppl 2):ii23-ii29, 2016 Dec.
[Is] ISSN:1462-0332
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes partly overlap (with fever and acute phase response), but also differ between the various syndromes (e.g. regarding fever pattern, episodic vs chronic inflammation and accompanying clinical signs). In recent years, the genetic basis of quite a number of these relatively rare and mostly hereditary disorders has been elucidated. These genetic defects lead to either enhanced production of inflammatory mediators or to a lack of inhibition of these components of the innate immune system. Among these dysregulated inflammatory mediators, the pro-inflammatory cytokine IL-1ß stands out. Hence, targeted treatment with blockers of IL-1 action, such as recombinant IL-1 receptor antagonist (IL-1Ra, anakinra) and mAb against IL-1ß has met with impressive clinical results. In this article, hyper-IgD syndrome is discussed in more detail, based on 30 years of experience with this syndrome.
[Mh] Termos MeSH primário: Interleucina-1beta/imunologia
Deficiência de Mevalonato Quinase/imunologia
[Mh] Termos MeSH secundário: Anticorpos Monoclonais/uso terapêutico
Anticorpos Monoclonais Humanizados/uso terapêutico
Antirreumáticos/uso terapêutico
Colchicina/uso terapêutico
Febre Familiar do Mediterrâneo/tratamento farmacológico
Febre Familiar do Mediterrâneo/genética
Febre Familiar do Mediterrâneo/imunologia
Febre Familiar do Mediterrâneo/fisiopatologia
Doenças Hereditárias Autoinflamatórias/tratamento farmacológico
Doenças Hereditárias Autoinflamatórias/genética
Doenças Hereditárias Autoinflamatórias/imunologia
Doenças Hereditárias Autoinflamatórias/fisiopatologia
Seres Humanos
Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico
Deficiência de Mevalonato Quinase/tratamento farmacológico
Deficiência de Mevalonato Quinase/genética
Deficiência de Mevalonato Quinase/fisiopatologia
Terapia de Alvo Molecular
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Moduladores de Tubulina/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Antibodies, Monoclonal, Humanized); 0 (Antirheumatic Agents); 0 (IL1B protein, human); 0 (Interleukin 1 Receptor Antagonist Protein); 0 (Interleukin-1beta); 0 (Tubulin Modulators); 37CQ2C7X93 (canakinumab); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.36 (mevalonate kinase); QX3JU54GYQ (gevokizumab); SML2Y3J35T (Colchicine)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE



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