RESUMO
This is a case report of the Rett syndrome in a girl with normal general and psychomotor development during the first 12 mos. Afterwards developmental stagnation and retrogression appeared which led within one yr to dementia, autism, loss of purposeful hand use, truncal ataxia and apraxia of gait. Characteristic stereotypic movements of the hands occurred, and, furthermore, rhythmic truncal balancing and episodic hyperpnea. At 2 yrs, neurological examination showed slight hypertonia and hyperreflexia of the legs without extensor plantar signs, there was relative microcephaly, and visceral examination was normal. The diagnosis was made on the basis of clinical signs: all laboratory investigations were negative except EEG which showed unspecific modifications. We didn't find hyperammonemia. No progression of the symptoms appeared in the 15 mos following the diagnosis.
Assuntos
Deficiência Intelectual/diagnóstico , Transtornos Neurocognitivos/diagnóstico , Comportamento Estereotipado , Apraxias/diagnóstico , Ataxia/diagnóstico , Desenvolvimento Infantil , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Microcefalia/diagnóstico , SíndromeRESUMO
Auto-Fi Dade has been used for thromboplastin time, activated partial thromboplastin time, fibrinogen determination and a few determinations of factors V, VII + X, II and VIII. The results of the thromboplastin time, using Dade Tromboplastin or thromboplastins from two other commerical firms, show a coefficient of variation (CV) ranging from 1.11 to 3.43% for short times and 1.97 to 2.64% for longer times.
Assuntos
Testes de Coagulação Sanguínea/instrumentação , Afibrinogenemia/sangue , Autoanálise , Fator VIII/normas , Fibrinogênio/normas , Humanos , Fosfatidiletanolaminas , TromboplastinaAssuntos
Hiperplasia Suprarrenal Congênita , Aldosterona/sangue , Hidroxiprogesteronas/sangue , 17-Cetosteroides/urina , Adolescente , Hiperfunção Adrenocortical/sangue , Hiperfunção Adrenocortical/tratamento farmacológico , Hormônio Adrenocorticotrópico , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Hidrocortisona/uso terapêutico , Lactente , Masculino , Prednisolona/uso terapêutico , Pregnanotriol/urina , RadioimunoensaioRESUMO
According to a radioimmunological method modified in our laboratory we determined plasma aldosterone levels under standardized conditions in children of different age from 2 weeks to 14 years, in women undergoing uncomplicated vaginal delivery, and in the cord blood of the corresponding newborn babies. Furthermore, the effect of different stimulating factors (ACTH, salt restriction, severe vomiting, fever) in children was studied. In mothers and cord blood we found 68.6 +/- 39.3 ng/100 ml and 75.5 +/- 37.4 ng/100 ml, respectively. In the first two years of life there is a decrease in plasma aldosterone levels to the relatively constant concentration at the age of 2 to 14 years (7.3 +/- 4.7 ng/100 ml). The age groups 2 weeks to 1 year, 1 to 2 years and 2 to 14 years all show significant differences. A correlation of age (first two years of life) and plasma aldosterone level could be shown (correlation coefficient -0.50 according to Pearson). The stimulation results are comparable with literature data concerning adults. The mechanism of stimulation by vomiting and fever is discussed.
Assuntos
Aldosterona/sangue , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez , RadioimunoensaioRESUMO
An accurate and relatively simple radioimmunoassay for the determination of aldosterone concentration in peripheral plasma has been developed, 0.5-2.0 ml plasma with added [1,2-3H]aldosterone is extracted with dichloromethane. Purification of the extract is achieved by thin later chromatography in the system benzene-acetone 1:1. Recovery of [1,2-3H] aldosterone is 58 +/- 6 (SD)%. Bound and free fractions are separated by dextran-coated charcoal. The intra-assay reproducibility is 8.8% and the inter-assay reproducibility varies from 11.4-16.1%. The sensitivity of the assay for a 5 ml plasma sample can be put at 0.2 ng/100 ml. Normal values determined in 52 healthy children of different age groups are presented. Furthermore the aldosterone stimulating effect of low sodium diet (17 children), severe and prolonged vomiting (19 children) and synthetic ACTH (10 children) has been studied by our modified method.
Assuntos
Aldosterona/sangue , Cromatografia em Camada Fina/métodos , Radioimunoensaio/métodos , Adolescente , Hormônio Adrenocorticotrópico/farmacologia , Aldosterona/isolamento & purificação , Aldosterona/metabolismo , Criança , Pré-Escolar , Dieta Hipossódica , Humanos , Sódio/farmacologia , VômitoRESUMO
The cortisol secretion rate was determined in 18 children according to a modified and simplified method. In 7 cases the determination was repeated after stimulation with synthetic ACTH. 12 of these children suffered from diseases which may affect glucocorticoidsteroid production and the remaining 6 children served as normal controls. In some cases the plasma 11-hydrocorticoid level and urinary excretion of 17-ketogenic steroids were additionally determined. Differences in adrenal function were noted in 2 patients with congenital adrenal hyperplasia (one of the salt-losing type, the other nonsalt-losing type) and 5 patients with adrenal insufficiency. A normal cortisol secretion rate was found in 3 children with diverse disturbances of carbohydrate metabolism, as well as in a child with subtotal adrenalectomy. The clinical value of the determination of the cortisol secretion rate is discussed and was found to be a more reliable indicator of glucocorticoid activity than other parameters.