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  • 1
    ISSN: 1432-1076
    Keywords: Zellweger syndrome ; Prenatal diagnosis ; Phytanic acid ; Amniocytes ; Chorionic villous cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Histopathology 4 (1980), S. 0 
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Multinucleated inclusion-bearing giant cells diagnostic of measles infection were identified in the pulmonary alveoli of seven children post mortem. Two children with leukaemia and a third with thymic dysplasia had prolonged illnesses without typical measles exanthemata. All showed a striking proliferation of the respiratory epithelia, with formation of peribronchiolar fibro-epithelial nodules and cystic transformation of tracheo-bronchial glands. The nodular lesions contained many giant cells and were seen radiologically as multiple slowly-enlarging pulmonary opacities, a pattern which appears to be highly characteristic of measles infection in the presence of cellular immune deficiency. Two other children showed similar proliferative lesions, but had shorter illnesses with exanthemata and few tissue giant cells; these differences are attributed to the late appearance of a cellular immune response in less severe immune deficiencies. Two children who had no evidence of immune deficiencies died of acute viral alveolitis, one in the preexanthematous phase. Acute alveolitis was characterized radiologically by the rapid development of diffuse pulmonary opacification and by variable cytological features which correlated with other evidence for the presence or absence of a cellular immune response against the virus.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 83 (1976), S. 0 
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Since 1970 there has been an increase in isolations of Group B β-haemolytic streptococci from infants and mothers at the National Women's Hospital and the organism has become the major cause of fatal perinatal infection. Forty-three of 60 stillborn and liveborn infants with postmortem isolations of Group B streptococci had pneumonia and of these a minority also had meningitis and/or septicaemia. Amnionitis was found in 15 of 20 placentae examined from these patients and an ascending infection from the maternal genital tract, often through intact membranes, was considered likely in the majority. However, a review of the prenatal histories of 33 infants showed that only a minority had premonitory features such as prolonged rupture of membranes, prolonged labour or maternal fever. Thirteen of 26 liveborn infants had a birth weight less than 2500 g. The majority presented within one hour of birth with respiratory distress or apnoea and died within 48 hours of birth. Early diagnosis of Group B infection is possible if bacteriological and radiological evidence is sought in infants of low birth weight, with low Apgar scores and with early onset of respiratory distress syndrome or apnoea in addition to those having the more usual indications of intrauterine infection. Group B streptococci were carried vaginally in 9 per cent of women attending an antenatal clinic and this high carrier rate is considered to preclude prophylactic treatment.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Protein loading tests for the diagnosis of heterozygous ornithine carbamoyltransferase deficiency were performed on two occasions on an asymptomatic woman whose daughter and two infant sons died of the disease. Neither loading test produced the expected increases in urinary orotic acid excretion and studies of other pyrimidine and purine metabolites in urine and plasma did not suggest that these would provide better discrimination from non-carriers. The results probably reflect an extensive inactivation of the mutant X chromosome in liver cells and reinforce the need for caution in interpreting negative test results.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 4 (1981), S. 27-31 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Detailed biochemical studies have been carried out in a female heterozygote for ornithine carbamoyltransferase (OCT) deficiency. Increased levels of the pyrimidines, orotic acid, uridine and uracil, were observed in plasma as well as urine by utilizing an adaptation of high performance liquid chromatography (HPLC). Urinary clearances of these compounds were high, that of orotic acid indicating net secretion. Urinary uric acid clearance was also elevated, a finding attributed to the uricosuric effect of the orotic acid excreted concomitantly. The results in this child and her family are typical of OCT deficiency. They confirm considerable genetic heterogeneity in the biochemical as well as clinical expression in this defect.
    Type of Medium: Electronic Resource
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