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  • Curvilmear, Finger-Print Inclusions  (1)
  • Diaphragmatic defect  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Céroïde-lipofuscinose neuronale (1974)
    Springer
    Acta neuropathologica 28 (1974), S. 353-359 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Familial Céroïd-Lipofuscinosis ; Batten Disease ; Late Infantile Amaurotic Idiocy ; Consanguinity ; Curvilmear, Finger-Print Inclusions
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary The authors report histochemical and electron mciroscopic data of brain biopsies in two cases of Battern's disease. The siblings affected, a male and a female, are born from consanguineous North African parents. The diagnosis of Ceroïd-Lipofuscinosis is supported by neuro-glial, endothelial and perithelial autofluorescent cell storage. By electron microscopy the abnormal cytosomes show both curvilinear and finger-print profiles; their lysosomal nature is supported by their obvious acid phosphatase activity. These lipopigment cytoplasmic inclusions are compared with those described in senile brains and in other cases of Batten's disease.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00685289
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Epidemiological study of congenital diaphragmatic defects with special reference to aetiology (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 726-729 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Diaphragmatic defect ; Prenatal diagnosis ; Aetiology ; Malformation ; Chromosomal anomaly ; Genetic syndrome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Congenital diaphragmatic defects (CDD) are easily accessible to ultrasonographic diagnosis. In spite of progress in the management of prenatally detected cases, the mortality rate for CDD remains high. The prognosis depends mainly on the severity of fetal lung hypoplasia but is also linked to the associated malformations. We report on 77 cases of CDD ascertained between 1982 and 1988 from 136 161 consecutive births in the Bouches du Rhône area. The spontaneous perinatal mortality rate was 61% with 28 early post-natal deaths and 14 stillbirths. Eight pregnancies were terminated after prenatal diagnosis. The diaphragmatic defect was associated with other congenital anomalies in 33 cases, more often among stillborn (92.8%) than liveborn infants (23.6%). A chromosomal abnormality was present in 9 cases representing 11.6% of all CDD and in 27.2% of cases with other anomalies. A Mendelian disorder was present in 9 cases (eight Fryns syndrome and one Fraser syndrome). This study underlines the necessity of a systematic work up of prenatally diagnosed cases, including fetal karyotyping and analysis of associated malformations in order to adapt the management of the pregnancy and delivery to the prognosis.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01958765
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