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1.
Eur J Clin Chem Clin Biochem ; 31(3): 121-8, 1993 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8490057

RESUMO

The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated brady-cardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Günther's disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described.


Assuntos
Hidropisia Fetal/complicações , Doenças do Prematuro/diagnóstico , Porfiria Eritropoética/diagnóstico , Porfirinas/análise , Ácido Aminolevulínico/urina , Eritrócitos/química , Fezes/química , Humanos , Recém-Nascido , Doenças do Prematuro/metabolismo , Linfócitos/química , Masculino , Mutação , Porfiria Eritropoética/complicações , Porfiria Eritropoética/metabolismo
2.
Eur J Obstet Gynecol Reprod Biol ; 16(1): 9-18, 1983 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-6195027

RESUMO

Alphafetoprotein (AFP) and concanavalin A non-reactive alphafetoprotein determination and the acetylcholinesterase (AchE) qualitative test have been performed on amniotic fluid samples from 33 normal pregnancies, 44 pregnancies with fetal malformations and 8 normal pregnancies with elevated amniotic fluid alphafetoprotein (3 false positive AFP results, 5 contaminations with fetal blood). The validities of these three tests in detecting abnormal pregnancies are compared. The usefulness of the existing complementary tests in the detection of neural tube defects in a low neural tube defect incidence area is discussed. Risk figures for open spina bifida according to the prior risk situation and the results of maternal serum AFP, amniotic fluid AFP, AchE qualitative test and ultrasound examination have been calculated.


Assuntos
Acetilcolinesterase/análise , Líquido Amniótico/análise , Meningomielocele/diagnóstico , Diagnóstico Pré-Natal/métodos , alfa-Fetoproteínas/análise , Amniocentese/métodos , Líquido Amniótico/enzimologia , Concanavalina A/farmacologia , Diagnóstico Diferencial , Reações Falso-Positivas , Feminino , Humanos , Gravidez , Valores de Referência , Risco , Ultrassonografia
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