Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Ano de publicação
Tipo de documento
Assunto da revista
País de afiliação
Intervalo de ano de publicação
1.
Rheumatol Int ; 36(4): 495-503, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26521081

RESUMO

The aim of this study was to validate the paediatric Gait, Arms, Legs, Spine (pGALS) tool for Mexican Spanish to screen Mexican paediatric population for musculoskeletal (MSK) disorders. A cross-sectional study was performed in the Paediatric Hospital of the Mexican Social Security Institute in Guadalajara, Jalisco. The validation included children and adolescents aged 6-16 years, 87 patients with musculoskeletal disorders and 88 controls without musculoskeletal disorders. The cross-cultural validation followed the current published guidelines. The average pGALS administration time was 2.9 min (SD 0.54). The internal consistency score (Cronbach's α) was 0.90 (0.89 for inflammatory and 0.77 for non-inflammatory disorders) for MSK disorders, with a sensitivity of 97 % (95 % CI 92-99 %), a specificity of 93 % (95 % CI 86-97 %), a LR+ of 14.3, and a ROC curve of 0.95 (95 % CI 0.92-0.98 %). The inflammatory disorders group had a sensitivity of 97 % (95 % CI 86-99 %), a specificity of 93 % (95 % CI 86-97 %), a LR+ of 14.2, and a ROC curve of 0.95 % (95 % CI 0.91-0.99 %). The non-inflammatory disorders group had a sensitivity of 98 % (95 % CI 89-99 %), a specificity of 93 % (95 % CI 86-97 %), and a LR+ of 14.37, with a ROC curve of 0.95 % (95 % CI 0.92-0.98 %). pGALS is a valid screening tool, fast, easy to administer, and useful for detecting musculoskeletal disorders in Mexican children and adolescents.


Assuntos
Características Culturais , Marcha , Extremidade Inferior/fisiopatologia , Doenças Musculoesqueléticas/diagnóstico , Coluna Vertebral/fisiopatologia , Inquéritos e Questionários , Extremidade Superior/fisiopatologia , Adolescente , Fatores Etários , Área Sob a Curva , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Humanos , Masculino , México/epidemiologia , Doenças Musculoesqueléticas/etnologia , Doenças Musculoesqueléticas/fisiopatologia , Valor Preditivo dos Testes , Curva ROC , Reprodutibilidade dos Testes , Tradução
2.
Autoimmunity ; 53(6): 344-352, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32597225

RESUMO

Blau syndrome (BS) is a rare, chronic autoinflammatory disease with onset before age 4 and mainly characterised by granulomatous arthritis, recurrent uveitis, and skin rash. Sporadic (also known as early-onset sarcoidosis) or familial BS is caused by gain-of-function mutations in the NOD2 gene, which encodes for a multi-task protein that plays a crucial role in the innate immune defense. We report on three Mexican patients clinically diagnosed with BS who exhibited a likely pathogenic variant in NOD2 as revealed by whole-exome sequencing (WES) and Sanger sequencing: two variants (c.1000 C > T/p.Arg334Trp and c.1538 T > C/p.Met513Thr) lie in the ATP/Mg2+ binding site, whereas the other (c.3019dupC/p.Leu1007ProfsTer2) introduces a premature stop codon disrupting the last LRR domain (LRR9) formation; all three variants are consistent with gain-of-function changes. Interestingly, all these patients presented concomitant likely pathogenic variants in other inflammatory disease-related genes, i.e. TLR10, PRR12, MEFV and/or SLC22A5. Although the clinical presentation in these patients included the BS diagnostic triad, overall it was rather heterogeneous. It is plausible that this clinical variability depends partly on the patients' genetic background as suggested by our WES results. After this molecular diagnosis and given the absence of NOD2 mutations (demonstrated in two trios) and related symptoms in the respective parents (confirmed in all trios), patients 1 and 2 were considered to have sporadic BS, while patient 3, a sporadic BS-recurrent polyserositis compound phenotype. Altogether, our observations and findings underscore the overlapping among inflammatory diseases and the importance of determining the underlying genetic cause by high-throughput methods. Likewise, this study further reinforces a pathogenic link between the here found NOD2 variants and BS and envisages potential additive effects from other loci in these, and probably other patients.


Assuntos
Artrite/genética , Proteína Adaptadora de Sinalização NOD2/genética , Sarcoidose/genética , Sinovite/genética , Uveíte/genética , Adolescente , Artrite/imunologia , Criança , Códon sem Sentido , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Domínios Proteicos/genética , Sarcoidose/imunologia , Sinovite/imunologia , Uveíte/imunologia , Sequenciamento do Exoma
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA