RESUMO
No disponible
Assuntos
Criança , Humanos , Disgenesia da Tireoide/complicações , Disgenesia da Tireoide/diagnóstico , Gastroenterite/genética , Gastroenterite/metabolismo , Leucopenia/genética , Acondroplasia/genética , Acondroplasia/metabolismo , Romênia/etnologia , Disgenesia da Tireoide/metabolismo , Disgenesia da Tireoide/patologia , Gastroenterite/complicações , Gastroenterite/diagnóstico , Leucopenia/metabolismo , Acondroplasia/complicações , Acondroplasia/patologiaAssuntos
Cabelo/anormalidades , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/genética , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Mutação , Osteocondrodisplasias/congênito , RNA Longo não Codificante , Pré-Escolar , Humanos , Lactente , Masculino , Técnicas de Diagnóstico Molecular , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Fenótipo , Doenças da Imunodeficiência PrimáriaRESUMO
Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.
Assuntos
Metabolismo dos Carboidratos , Genótipo , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mães , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/metabolismo , Polimorfismo de Nucleotídeo Único , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Homocisteína/sangue , Humanos , Incidência , Defeitos do Tubo Neural/epidemiologia , Gravidez , Fatores de Risco , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/genética , Disrafismo Espinal/metabolismo , Adulto JovemAssuntos
Cromossomos Humanos X/genética , Anormalidades Congênitas/genética , Mosaicismo , Adolescente , Canal Anal/anormalidades , Mapeamento Cromossômico , Cloaca/anormalidades , Deficiências do Desenvolvimento/genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Reto/anormalidades , Reto/patologia , Aberrações dos Cromossomos SexuaisRESUMO
OBJECTIVE: Nosocomial Candidiasis in low birth weight (LBW) infants have increased. Toxic side effects limit the use of conventional Amphotericin B for treatment of fungal infections. The liposomal forms have lowered this risk considerably, even at higher doses. Our aim was to evaluate treatment response to liposomal Amphotericin B in neonates with Candidiasis. PATIENTS AND METHODS: Fifteen neonates diagnosed both clinically and biologically of Candidiasis infection and who were treated with liposomal Amphotericin B from June 1994 through July 1997 were included. Duration of treatment, when culture became negative, secondary effects, complications, other medication, basal pathology and clinical course were analyzed. RESULTS: Mean gestational age was 36 +/- 6 weeks and 60% were preterm. Mean age at diagnosis was 13.4 days. Eleven patients presented sepsis (1 C. Sp., 9 C. albicans and 1 C. parapsilosis). They were treated with liposomal Amphotericin B, starting dose 0.5-1 mg/kg/day). One patient had associated 5-fluorocytosine. Cultures became negative at approximately 13 days and mean duration of therapy was 21.13 days. Seven patients showed additional bacterial infections. Side effects during treatment were anemia and hypotension. CONCLUSIONS: Liposomal Amphotericin B has been effective in the treatment of Candidiasis without toxic signs that can be attributed solely to the medication.
Assuntos
Anfotericina B/administração & dosagem , Antibacterianos/administração & dosagem , Antifúngicos/administração & dosagem , Candidíase/tratamento farmacológico , Infecção Hospitalar/tratamento farmacológico , Fatores Etários , Peso Corporal , Portadores de Fármacos , Quimioterapia Combinada , Flucitosina/administração & dosagem , Idade Gestacional , Humanos , Recém-Nascido , Lipossomos , Fatores de Risco , Fatores de TempoRESUMO
The organization for the diagnosis, treatment and follow-up of the children with malignancies at the Hospital Infantil "Virgen del Rocio", are described. There is a Tumor Committee made up by two pediatrics oncologist, two pediatrics surgeons, one pathologist, one radiotherapist, one pediatric psiquiatrist and one social worker. The Oncology Section of the Hospital is made up by one pediatric oncologist and one registerers nurse (A.T.S.) and several clinical assistants.
Assuntos
Neoplasias/terapia , Comitê de Profissionais , Pessoal Técnico de Saúde , Pré-Escolar , Administração Hospitalar , Humanos , Controle de Qualidade , Qualidade da Assistência à Saúde , EspanhaRESUMO
Nine cases of congenital syphilis were observed by the authors during the last three years. 120,000 records were collected during this period. Several remarks are made on to-days views on etiology; clinical features and serologic diagnostic tests currently in use, as well as about treatment.
Assuntos
Sífilis Congênita/diagnóstico , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Penicilinas/uso terapêutico , Sorodiagnóstico da Sífilis , Sífilis Congênita/tratamento farmacológicoRESUMO
A new case of the Smith-Lemli-Opitz Syndrome is reported, associated with a type of congenital cardiopathy not described previously in this syndrome.
