RESUMO
A newborn Japanese girl with Kabuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of Kabuki syndrome. On sequence analysis she was found to have a novel heterozygous KMT2D mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when Kabuki syndrome patients have convulsion or other non-specific symptoms. Diazoxide may help to improve hypoglycemia in patients with Kabuki syndrome complicated with hyperinsulinemic hypoglycemia.
Assuntos
Anormalidades Múltiplas/genética , Hiperinsulinismo Congênito/genética , Proteínas de Ligação a DNA/genética , Diazóxido/uso terapêutico , Face/anormalidades , Doenças Hematológicas/genética , Proteínas de Neoplasias/genética , Deleção de Sequência , Doenças Vestibulares/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/tratamento farmacológico , Glicemia , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/tratamento farmacológico , Deficiências do Desenvolvimento/genética , Feminino , Doenças Hematológicas/diagnóstico , Doenças Hematológicas/tratamento farmacológico , Humanos , Recém-Nascido , Análise de Sequência de DNA , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/tratamento farmacológicoRESUMO
BACKGROUND: It is important to clarify the quality of life (QOL) of the asthmatic children and their guardians. METHOD: We studied asthmatic patients treated at 359 institutes in Kyusyu and Okinawa, Japan, with QOL questionnaire 2 times in 2001. In the first study, 2906 patients were recruited and 2935 patients were in the 2nd study, and 1563 patients were in both study. RESULT: There was a statistically significant relationship, between the QOL and the clinical symptoms in the last 2 weeks, between the QOL and the severity of asthmatic symptoms, and between the patients' or their guardians' QOL and recognition of symptoms. There was a statistically significant relationship between the QOL answered by patients and those by guardians. More significant relationship of QOL between patients' and guardians' was seen in the patients with asthmatic attack or in the severe group, especially in schoolchildren. CONCLUSION: Asthmatic control is important for improvement of QOL. Because correlation is significant in QOL between parent and child especially in schoolchildren, asthmatic control is particularly important.
Assuntos
Asma/psicologia , Relações Pais-Filho , Qualidade de Vida , Adolescente , Adulto , Asma/tratamento farmacológico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Pais/psicologia , Índice de Gravidade de Doença , Inquéritos e QuestionáriosRESUMO
A 5-day-old newborn baby presented with skin eruption, oral vesicles, and fever. His mother developed skin eruption at the same time, and his four-year-old sister was diagnosed with hand-foot-mouth disease 1 week before his delivery. Enterovirus 71 was isolated from cerebrospinal fluid that showed mild pleocytosis. This rare case of virology documented perinatal enterovirus 71 infection recovered without sequelae.
