RESUMO
BACKGROUND/AIM: The single nucleotide polymorphisms (SNPs) rs2282978 (CDK6), rs2425019 (MMP24), rs8081612 (MAP3K3), rs2871865 (IGF1R) and rs3782415 (SOCS2) were among the SNPs most strongly associated with height in a meta-analysis of 47 genome-wide association studies (GWAS) involving 114,223 adults from six ethnic groups. The present study aimed to examine associations between these SNPs and height in Brazilian children. METHODS: Cross-sectional heights of 1,008 healthy unrelated 4.4- to 9.7-year-old children were evaluated. All genotypes were determined by allele-specific polymerase chain reactions. Height standard deviation scores (SDS) were generated for this population and regressed on allele counts. Linear regressions were performed to estimate the effect of individual SNPs or a polygenic allelic score on height. RESULTS: The T allele of rs8081612 (MAP3K3), the C allele of rs2871865 (IGF1R) and the G allele of rs2425019 (MMP24) were significantly associated with a 0.091-SDS greater height (95% CI 0.089-0.093, p = 0.001) by polygenic analysis. The mean height SDS difference between children with 2 'tall' alleles and children with 4 'tall' alleles was 0.24 SDS (95% CI 0.05-0.43, p = 0.01). The observed allelic effect is consistent with that found in previous GWAS. CONCLUSIONS: Polymorphisms in MAP3K3, MMP24 and IGF1R act additively on height in children of an admixed population. These results demonstrate the importance of these loci for children's height.
Assuntos
Estatura/genética , Loci Gênicos , MAP Quinase Quinase Quinase 3/genética , Metaloproteinases da Matriz Associadas à Membrana/genética , Polimorfismo de Nucleotídeo Único , Receptores de Somatomedina/genética , Alelos , Brasil , Criança , Pré-Escolar , Estudos Transversais , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Masculino , Receptor IGF Tipo 1RESUMO
Foi realizado estudo retrospectivo de nove casos de raiva internados em um hospital de Fortaleza, Brasil. Autópsia foi realizada em todos os casos. As idades variaram de 3 a 81 anos. Todos foram agredidos por cães. O tempo entre o acidente e a admissão hospitalar variou de 20 a 120 dias (média de 45 ± 34 dias). O tempo de internamento variou de 1 a 9 dias (média de 5.5 ± 3.1 dias). Os sinais e sintomas observados foram febre, hidrofobia, aerofobia, agitação, desorientação, dispnéia, sialorréia, vômitos, oligúria, faringite, dor e hipoestesia no local da mordida, cefaléia, síncope, tosse, hematêmese, midríase, hematúria, constipação, dor cervical e priapismo. Em três de seis pacientes (50%) foi encontrada evidência de insuficiência renal aguda, definida como creatinina > 1.4 mg/dL. Os achados de autópsia do tecido renal foram congestão glomerular leve a moderada e congestão capilar peritubular leve a intensa. Necrose tubular aguda foi encontrada em dois casos. Estes achados são inespecíficos, de modo que a instabilidade hemodinâmica, causada por disfunção autonômica, hidrofobia e desidratação podem ser considerados como responsáveis pela insuficiência renal aguda na raiva.
Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Criança , Pré-Escolar , Cães , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Injúria Renal Aguda , Mordeduras e Picadas/complicações , Raiva/complicações , Injúria Renal Aguda , Brasil , Glomérulos Renais/patologia , Necrose Tubular Aguda/etiologia , Necrose Tubular Aguda/patologia , Necrose , Estudos Retrospectivos , Raiva/patologia , Raiva/transmissão , Índice de Gravidade de DoençaRESUMO
A retrospective study was conducted in nine patients with rabies admitted to a hospital of Fortaleza, Brazil. Autopsy was performed in all cases. The ages ranged from three to 81 years and six were males. They all were bitten by dogs. The time between the accident and the hospital admission ranged from 20 to 120 days (mean 45 +/- 34 days). The time until death ranged from one to nine days (mean 3.3 +/- 5.5 days). The signs and symptoms presented were fever, hydrophobia, aerophobia, agitation, disorientation, dyspnea, sialorrhea, vomiting, oliguria, sore throat, pain and hypoesthesia in the site of the bite, headache, syncope, cough, hematemesis, mydriasis, hematuria, constipation, cervical pain and priapism. In three out of six patients, there was evidence of acute renal failure, defined as serum creatinine > or = 1.4 mg/dL. The post-mortem findings in the kidneys were mild to moderate glomerular congestion and mild to intense peritubular capillary congestion. Acute tubular necrosis was seen in only two cases. This study shows some evidence of renal involvement in rabies. Histopathologic findings are nonspecific, so hemodynamic instability, caused by autonomic dysfunction, hydrophobia and dehydration must be responsible for acute renal failure in rabies.
