RESUMO
Despite extensive studies on the gastric microbiota, including Helicobacter pylori and non-H. pylori, the bacterial composition in children remains unknown. In this study, we analyzed the culturable gastric bacteria in stomach biopsies from 346 children aged 1-15 years affected by gastric diseases. H. pylori and non-H. pylori were identified by specific PCR and 16S rDNA sequencing, respectively. Antibiotic susceptibilities of H. pylori and non-H. pylori were tested by the E-test and disk diffusion methods, respectively. Rapid diagnosis was also performed by H. pylori-specific PCR. Twenty-two H. pylori strains were obtained from culture, and 92 biopsies were positive by H. pylori-specific PCR. The positive rate was higher in boys (40.3%) than in girls (23.3%) (P = 0.001). Resistance rates of 22 H. pylori strains were as follows: metronidazole, 86.4%; tetracycline, 22.7%; amoxicillin, 22.7%; levofloxacin, 31.8%; clarithromycin, 36.4%. Ten isolates were multidrug-resistant. Additionally, among 366 non-H. pylori strains, 204 exhibited urease activity. Non-H. pylori resistance rates were as follows: metronidazole, 94.8%; tetracycline, 26.2%; amoxicillin, 42.6%; levofloxacin, 15.3%; clarithromycin, 46.7%. Our results showed that children with gastric disorders harbor stomach bacteria with urease activity or nitrate reductase activity. Further studies will determine the effects of non-H. pylori bacteria in gastric diseases.
Assuntos
Antibacterianos/farmacologia , Microbioma Gastrointestinal , Gastropatias/microbiologia , Estômago/microbiologia , Adolescente , Criança , Pré-Escolar , Farmacorresistência Bacteriana Múltipla , Feminino , Infecções por Helicobacter/microbiologia , Infecções por Helicobacter/patologia , Helicobacter pylori/classificação , Helicobacter pylori/genética , Helicobacter pylori/isolamento & purificação , Humanos , Lactente , Masculino , Testes de Sensibilidade Microbiana , Filogenia , Estômago/patologia , Gastropatias/patologiaRESUMO
OBJECTIVES: To investigate thyroid peroxidase gene (TPO) mutations in a Chinese siblings with congenital goitrous hypothyroidism (CGH). SUBJECTS AND METHODS: The proband, his sister, and their parents were enrolled. All subjects underwent clinical examination and laboratory tests. Mutation screening of the TPO gene was performed by sequencing fragments amplified from extracted genomic DNA. RESULTS: The siblings were diagnosed as CGH with neurodevelopmental deficits. Two compound heterozygous inactivating mutations were found in the two patients: a frameshift mutation between positions 2268 and 2269 (c.2268-2269 insT) and a missense mutation at c.2089 G>A (p.G667S) of the TPO gene. Their parents, with normal thyroid hormone levels, were heterozygous for mutations c.2268-2269 insT and c.2089 G>A, respectively. The polymorphisms of c.1207 G>T, c.1283 G>C, and c.2088 C>T were detected in the family. CONCLUSIONS: CGH of the Chinese siblings was due to the TPO gene mutations (c.2268-2269 insT and c.2089 G>A). Arq Bras Endocrinol Metab. 2012;56(9):614-7.
OBJETIVOS: Investigar mutações no gene da peroxidase da tireoide (TPO) em irmãos chineses com hipotireoidismo congênito com bócio (HCB). SUJEITOS E MÉTODOS: O probando, sua irmão e seus pais foram analisados. Todos os sujeitos passaram por exames clínicos e laboratoriais. A análise para mutações do gene TPO foi feita por meio de sequenciamento de fragmentos amplificados do DNA genômico extraído. RESULTADOS: Os irmãos foram diagnosticados com HCB e déficits de desenvolvimento neurológico. Duas mutações compostas, heterozigotas, inativadoras foram observadas nos dois pacientes: uma mutação frameshift entre as posições 2268 e 2269 (c.2268-2269 insT), e uma mutação missense em c.2089 G>A (p.G667S) do gene TPO. Os pais apresentaram níveis normais de hormônios da tiroide e eram heterozigotos para mutações em c.2268-2269 insT e c.2089 G>A, respectivamente. Foram detectados polimorfismos de c.1207 G>T, c.1283 G>C, e c.2088 C>T na família. CONCLUSÕES: O HCB dos irmãos chineses foi devido a mutações no gene TPO (c.2268-2269 insT e c.2089 G>A). Arq Bras Endocrinol Metab. 2012;56(9):614-7.
Assuntos
Adolescente , Feminino , Humanos , Masculino , Adulto Jovem , Hipotireoidismo Congênito/genética , Bócio/genética , Iodeto Peroxidase/genética , Povo Asiático/genética , Mutação da Fase de Leitura/genética , Mutação de Sentido Incorreto/genética , Linhagem , Polimorfismo Genético/genética , IrmãosRESUMO
OBJECTIVES: To investigate thyroid peroxidase gene (TPO) mutations in a Chinese siblings with congenital goitrous hypothyroidism (CGH). SUBJECTS AND METHODS: The proband, his sister, and their parents were enrolled. All subjects underwent clinical examination and laboratory tests. Mutation screening of the TPO gene was performed by sequencing fragments amplified from extracted genomic DNA. RESULTS: The siblings were diagnosed as CGH with neurodevelopmental deficits. Two compound heterozygous inactivating mutations were found in the two patients: a frameshift mutation between positions 2268 and 2269 (c.2268-2269 insT) and a missense mutation at c.2089 G>A (p.G667S) of the TPO gene. Their parents, with normal thyroid hormone levels, were heterozygous for mutations c.2268-2269 insT and c.2089 G>A, respectively. The polymorphisms of c.1207 G>T, c.1283 G>C, and c.2088 C>T were detected in the family. CONCLUSIONS: CGH of the Chinese siblings was due to the TPO gene mutations (c.2268-2269 insT and c.2089 G>A).