RESUMO
The aim of this study was to analyze the association of different clinical contributors of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. A total of 110 children with hypoxic-ischemic encephalopathy and 128 control children were selected for this study. Association of gender, gestational age, birth weight, Apgar score, cranial ultrasonography, and magnetic resonance imaging findings with genotypic data of six haplotype-tagging single nucleotide polymorphisms and the most commonly investigated rs1800779 and rs2070744 polymorphisms was analyzed. The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and they had the most severe brain damage. Increased incidence of the TT genotype of the NOS3 rs1808593 SNP was found in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage. The probability of brain damage was twice as high in children with the TT genotype than in children with the TG genotype of the same polymorphism. Furthermore, the T allele of the same polymorphism was twice as frequent in children with lower Apgar scores. This study strongly suggests associations of NOS3 gene polymorphism with intensity of brain damage and severity of the clinical picture in affected children.
Assuntos
Peso ao Nascer , Dano Encefálico Crônico/genética , Hipóxia-Isquemia Encefálica/genética , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético/genética , Distribuição de Qui-Quadrado , Pré-Escolar , Feminino , Frequência do Gene , Genótipo , Idade Gestacional , Humanos , Hipóxia-Isquemia Encefálica/patologia , Lactente , Recém-Nascido , Modelos Logísticos , Imageamento por Ressonância Magnética , Masculino , Polimorfismo de Nucleotídeo Único/genética , Reação em Cadeia da Polimerase em Tempo Real , Índice de Gravidade de DoençaAssuntos
Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Proteínas de Transporte/genética , Anormalidades Craniofaciais/genética , Transtornos do Crescimento/genética , Deficiência Intelectual/genética , Peptídeos e Proteínas de Sinalização Intracelular , Mutação , Proteínas Nucleares/genética , Processamento Alternativo/genética , Análise Mutacional de DNA , Feminino , Histona Metiltransferases , Histona-Lisina N-Metiltransferase , Humanos , Masculino , Dados de Sequência Molecular , Núcleo Familiar , Valor Preditivo dos TestesRESUMO
BACKGROUND: Schönlein-Henoch syndrome (SHS) or anaphylactic purpura in childhood is the result of pathologic and immunologic responses to different antigens. These antigens could induce the formation of immune complexes responsible for vasculitis and their precipitation on the endothelium of small blood vessels. Purpuric bruises, hematuria, hematemesis, melena, or hematochesis may suggest coagulation disturbances. Increasing bleeding tendency may suggest platelet function disturbance. To examine the qualitative function of platelets in children with SHS, we decided to analyze its aggregation function. METHODS: Using the Born method of testing, we analyzed platelet aggregation in 24 children with SHS. RESULTS: Based on the aggregograms examined, we observed that most patients had abnormal aggregation curves, in which platelets demonstrated a block of release of the endogenous ADP, with or without disaggregation. CONCLUSIONS: One clinical symptom of SHS appearing in most patients is a mild or increased tendency toward bleeding. On measuring induced aggregation of platelets in children with SHS, we observed that the qualitative function of platelets was disturbed.
Assuntos
Vasculite por IgA/sangue , Agregação Plaquetária , Testes de Função Plaquetária , Difosfato de Adenosina/metabolismo , Difosfato de Adenosina/farmacologia , Plaquetas/efeitos dos fármacos , Plaquetas/metabolismo , Criança , Pré-Escolar , Epinefrina/farmacologia , Feminino , Humanos , Masculino , Agregação Plaquetária/efeitos dos fármacosRESUMO
The Schinzel-Giedion syndrome is an infrequently described malformation syndrome, mainly characterized by a profound mental deficiency, a typical face including a midface hypoplasia, urogenital abnormalities, and minor radiographic features. Death prior to two year of age is the rule. A boy with typical features of the syndrome is described. He died at the age of 21 months. This is the first case of this syndrome reported from Croatia. The recurrence in only one of the 20 families, does not firmly sustain an autosomal recessive pattern of inheritance, although this still remains possible.