RESUMO
Four cases of newborn infants whose mothers had a low urinary oestrogen excretion during pregnancy are reported. Placental sulphatase deficiency in placental insufficiency were excluded by a dehydroepiandrosterone sulphate loading test. Postnatally, they developed a clinical picture characterized by an inappropriate secretion of cortisol which, by the results of an adrenocorticotrophic hormone stimulation test, appeared to be due to an impairment of adrenocorticotrophic hormone secretion. The prenatal and postnatal steroid metabolism is discussed.
Assuntos
Hormônio Adrenocorticotrópico/metabolismo , Doenças do Sistema Endócrino/metabolismo , Estrogênios/urina , Doenças Fetais/metabolismo , Gravidez , Hormônio Adrenocorticotrópico/sangue , Hormônio Adrenocorticotrópico/farmacologia , Adulto , Feminino , Feto/metabolismo , Idade Gestacional , Humanos , Recém-Nascido , MasculinoRESUMO
A positive ferric chloride reaction was found at routine examination of the urine of a 14 year old mentally normal girl, admitted for complaints of headache and other meningitis-like symptoms. It turned out that she excreted permanently increased amounts of phenylpyruvic, phenyllactic and o-hydroxyphenylacetic acids, but phenylacetic acid (free plus conjugated) was normal. Fasting serum phenylalanine was not increased nor was urinary phenylalanine. On loading with L-phenylalanine (100 mg/kg) a normal serum phenylalanine response followed, but urinary phenylpyruvic, phenyllactic and o-hydroxyphenylacetic acids increased further. Phenylacetic acid responded too, but remained in the normal range. In addition to the above-mentioned abnormalities the urine contained a still unidentified abnormal acid, which also increased after loading with phenylalanine. Her 12 year old healthy sister showed the same chemical abnormality. Two older brothers and the parents had normal excretions. The enzyme defect has not been identified. As a possibility the defective decarboxylation of phenylpyruvic acid is proposed.
Assuntos
Fenilalanina/metabolismo , Fenilcetonúrias/genética , Adolescente , Adulto , Benzoatos/urina , Criança , Creatinina/urina , Feminino , Humanos , Lactatos/urina , Masculino , Fenilacetatos/urina , Ácidos Fenilpirúvicos/metabolismo , Tirosina/sangueRESUMO
The article discusses the results of an investigation by Doppler ultrasound on newborn infants, who were admitted at the neonatal intensive care unit of the 'Onze Lieve Vrouwe Gasthuis' at Amsterdam. The 'pulsatility index' (PI) of the Aa cerebri anteriores was measured in five groups of infants. The results of this investigation may contribute to a better understanding of the patho-physiology of asphyxia and intra-cranial hemorrhages in neonates. Further it appears that this method has a certain diagnostic and prognostic value concerning intra-ventricular hemorrhages. There is also evidence that increasing cerebral volume can be detected by this method.
Assuntos
Asfixia Neonatal/diagnóstico , Hemorragia Cerebral/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Ultrassonografia , Artérias Cerebrais , Ventrículos Cerebrais , Feminino , Humanos , Recém-Nascido , Doenças do Prematuro/diagnóstico , Masculino , Ultrassom/instrumentaçãoAssuntos
Eritrócitos/enzimologia , Deficiência de Glucosefosfato Desidrogenase/sangue , Doenças do Prematuro/sangue , Transfusão de Sangue , Etnicidade , Deficiência de Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/terapia , Humanos , Lactente , Recém-Nascido , MasculinoAssuntos
Nanismo/congênito , Nanismo/diagnóstico por imagem , Nanismo/patologia , Feminino , Humanos , Úmero/patologia , Recém-Nascido , RadiografiaRESUMO
Cerebral blood flow velocity (C.B.F.V.) was estimated in 49 newborn babies by calculating the pulsatility-index (P.I.) of the anterior cerebral arteries (A.C.A.) using Doppler ultrasound. We studied the changes in P.I. of the A.C.A. in relation to the clinical condition in three full-term babies with evidence of cerebral edema (in one patient proved by autopsy) due to perinatal asphyxia. There was a relation between the level of consciousness and the P.I.; a low P.I. (a sign of arterial vasodilatation) occurred with a low level of consciousness, while higher P.I. values (reduced vasodilatation) were detected when improvement of consciousness occurred. The following explanation is given: cerebral edema causes an increase of intracranial pressure and venous obstruction. The cerebral perfusion decreases and cerebral function changes; stupor and coma occur. By vasodilatation the resistance of the cerebral arteries is lowered; the C.B.F.V. increases in an attempt to restore cerebral perfusion. The vasodilation is reflected in the low P.I. values, as we found in our three patients.
Assuntos
Asfixia Neonatal/complicações , Edema Encefálico/etiologia , Circulação Cerebrovascular , Adulto , Asfixia Neonatal/fisiopatologia , Velocidade do Fluxo Sanguíneo , Feminino , Humanos , Recém-Nascido , Doenças do Prematuro/fisiopatologia , Pressão Intracraniana , Masculino , Fatores de Tempo , Resistência VascularRESUMO
A case of Plasmodium vivax malaria in a 3-months-old-infant, born in the Netherlands from an Indian mother, is described. The infant was admitted the day after birth with a febrile illness of unknown origin and suffered thereafter from recurrent anaemia and hepatosplenomegaly. P. vivax was also found in the peripheral blood film of the mother. The concept of congenital transmission was also supported by the early presence of specific IgM-class antibodies in the serum of the infant. This is the first case reported from the Netherlands.