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  • 1
    Electronic Resource
    Electronic Resource
    Glomustumor (sog. Chemodektom) der Lunge (1973)
    Springer
    Virchows Archiv 359 (1973), S. 315-329 
    Details
    ISSN: 1432-2307
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei einer 88jährigen Patientin wurde bei der Obduktion als Nebenbefund ein Lungentumor beobachtet, der nach Angaben etwa 20 Jahre bestand und über 3 Jahre röntgenologisch unverändert geblieben war. Es handelt sich um eine 5 × 7 cm große, gefäßreiche, scharf abgegrenzte Geschwulst im rechten Lungenunterlappen. Das histologische Bild zeigte die typischen Strukturen eines sog. Chemodektoms oder Glomuszelltumors. Die elektronenmikroskopische Untersuchung ließ katecholaminhaltige sog. „dense cored“ Partikel erkennen, die in der fluorescenzmikroskopischen und insbesondere in der biochemischen Untersuchung als noradrenalinhaltig identifiziert werden konnten. Es ist dies nach unserer Kenntnis der vierte in der Literatur berichtete Fall eines Glomustumors der Lunge.
    Notes: Summary The autopsy of a 88-year-old female patient revealed a lung tumour as an incidental finding. This lesion had been known about for 20 years and had apparently not changed for the last 3 years. The growth was in the right lower lung, measured 5 × 7 cm and was well circumscribed and rich in vessels. The histological picture showed structures typical of a glomus tumour, a so-called chemodectoma. Electron microscopy revealed “dense cored particles” which were shown by fluorescence microscopy and biochemical investigations to contain noradrenalin. As far as we know, this is the fourth case of a glomus tumour of the lung reported in literature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00548603
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  • 2
    Electronic Resource
    Electronic Resource
    Thanatophorer Zwergwuchs (1971)
    Springer
    European journal of pediatrics 111 (1971), S. 162-174 
    Details
    ISSN: 1432-1076
    Keywords: Achondroplasia ; Thoracic Dystrophy ; Micromelic Dwarfism ; Perinatal Death
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung 1967 wurde von Maroteaux u. Mitarb. der thanatophore Zwergwuchs als eigene Form einer chondrodysplastischen Störung beschrieben. Seither wurden 47 Fälle unter dieser Diagnose publiziert. Zahlreiche weitere konnten in der Literatur nachträglich identifiziert werden. Das Krankheitsbild ist leicht zu erkennen. Die Differentialdiagnose zur klassischen angeborenen Achondroplasie (Chondrodystrophie) wird ausführlich beschrieben.
    Notes: Abstract Thanatophoric dwarfism as a distinct type of chondrodystrophy has been described in 1967 by Maroteaux et al. 47 cases with this diagnosis have since been published. Several additional cases in the literature could also be identified. Diagnosis and differentiation from achondroplasia is not difficult. An additional case is described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446431
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  • 3
    Electronic Resource
    Electronic Resource
    Das oro-facio-digitale Syndrom (1972)
    Springer
    European journal of pediatrics 112 (1972), S. 89-112 
    Details
    ISSN: 1432-1076
    Keywords: X-chromosomal Dominant Inherited Syndrome ; Oral, Facial and Digital Anomalies ; Malformations of Brain and Kidneys
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Das oro-facio-digitale Syndrom (OFD) wird an 12 eigenen Beobachtungen dargestellt. Die Häufigkeit der Symptome ergibt sich aus einer Zusammenstellung der gesamten Kasuistik bis 1971. Besonders hingewiesen wird auf Fehlbildungen des Gehirns, die in etwa einem Fünftel der Fälle beschrieben werden, und auf polycystische Veränderungen der Nieren, die in 5 von 7 obduzierten Fällen festgestellt wurden. Mindestens ein Drittel aller Kinder sterben im Kleinkindalter. Das Syndrom wird durch ein X-chromosomal dominantes Gen verursacht. Die Anlage kann sich sowohl im voll ausgebildeten Syndrom als auch möglicherweise in kaum nachweisbaren Anomalien manifestieren.
    Notes: Abstract The oro-facial-digital syndrome (OFD) is documented by 12 personal observations. The frequency of the symptoms is given in a table based upon a review of all cases up to 1971. Attention is focussed on malformations of the brain, which were found in one fifth of all cases, and on polycystic anomalies of the kidney seen in 5 out of 7 autopsied cases. At least one third of all children die during early infancy. The syndrome is caused by an X-chromosomal dominant gene. Its expressivity covers the complete syndrome as well as minor dysplasias.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00491969
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  • 4
    Electronic Resource
    Electronic Resource
    Robinow syndrome with parental consanguinity (1989)
    Springer
    European journal of pediatrics 148 (1989), S. 652-653 
    Details
    ISSN: 1432-1076
    Keywords: Robinow syndrome ; Mesomelic dwarfism ; Consanguinity ; Genetic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe the clinical features of Robinow syndrome in the first child of a consanguineous Turkish couple. This observation supports the view that severe vertebral anomalies are a feature of the autosomal-recessive form of Robinow syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441525
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  • 5
    Electronic Resource
    Electronic Resource
    Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 301-302 
    Details
    ISSN: 1432-1076
    Keywords: Median cleft face syndrome ; Frontonasal dysplasia ; Holoprosencephaly ; Agenesis of the corpus callosum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A premature female infant had the characteristic features of the median cleft face syndrome in association with holoprosencephaly, agenesis of the corpus callosum, hydrocephalus and choanal atresia. Whereas the nervous system is rarely affected in patients with the median cleft face syndrome, severe mental retardation has been reported in three previously published cases and is suggested in our own patient. All had an associated agenesis of the corpus callosum.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00716480
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  • 6
    Electronic Resource
    Electronic Resource
    Polysyndaktylie, verkürzte Gliedmaßen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms? (1971)
    Springer
    European journal of pediatrics 111 (1971), S. 118-138 
    Details
    ISSN: 1432-1076
    Keywords: Multiple Malformations ; Cleft Lip ; Polydactyly ; Syndactyly ; Genital Anomalies ; Anomalies of the Extremities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bericht über 4 perinatal verstorbene Neugeborene mit medianer Oberlippenspalte, exzessiver Polysyndaktylie, verkürzten Rippen und Gliedmaßen, Genitalmißbildungen, Anomalien der Epiglottis und Mißbildungen innerer Organe. In der Literaturkasuistik fanden wir 13 gleichartige und 19 ähnliche Fälle, die wahrscheinlich einem eigenen, bisher unerkannten Syndrom zugehörig sind. Dieses Syndrom kann von 12 morphologisch mehr oder minder ähnlichen Syndromen abgegrenzt werden. Die Ätiologie ist unbekannt.
    Notes: Abstract 4 newborn babies dying shortly after birth exhibited severe malformations including median cleft lip, excessive polysyndactyly, short ribs and limbs, genital abnormalities, and anomalies of epiglottis and visceral organs. 13 nearly identical cases were found in the literature. In addition, 19 similar cases have been described. They all probably represent a separate, previously unrecognized syndrome. This peculiar association of congenital malformations can be clearly delineated from 12 syndromes, which share more or less similar features. The etiology is unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446428
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  • 7
    Electronic Resource
    Electronic Resource
    Pathologisch-anatomische VerÄnderungen der Rattenlunge nach endotrachealer Injektion von Methylsilikonöl (1973)
    Springer
    International archives of occupational and environmental health 31 (1973), S. 277-293 
    Details
    ISSN: 1432-1246
    Keywords: Rats ; Methylsilicon oil ; Endotracheal ; Lung changes ; Ratten ; Methylsilikonöl ; Endotracheal ; LungenverÄnderungen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Nach endotrachealer Injektion von Methylsilikonöl, das in der Industrie vorwiegend in Form von Sprays weite Anwendung findet, kommt es bei der Ratte zu einer heftigen intraalveolÄren Makrophagenreaktion und nach einigen Wochen zur Bronchitis und Peribronchitis. Ein Teil der Tiere verstirbt an einer abszedierten Pneumonie, bei den anderen kommt es zur Ausheilung mit septaler Fibrose. Die KlÄrung der Lunge von Methylsilikonöl erfolgt wahrscheinlich ganz oder überwiegend auf dem mucociliÄren Weg. Eine interstitielle Ablagerung des eingebrachten Materials sowie eine Speicherung in anderen Organen wurde nicht beobachtet. Die intraalveolÄren Makrophagen sind sehr gro\ und enthalten neben Lamellenkörpern Vesikel unterschiedlicher Grö\e, von denen angenommen wird, da\ sie Methylsilikonöl enthalten. In den Alveolen werden neben einem feinkörnigen amorphen Material lamellÄre und vorwiegend reichlich tubulÄre, gitterförmige Myelinstrukturen beobachtet. Von den letzteren ist anzunehmen, da\ sie mit dem alveolÄren Surfactant in Zusammenhang stehen.
    Notes: Summary Methylsilicon oil is frequently used in industry in sprays. Endotracheal injection of this material is followed by a pronounced-intra-alveolar macrophage reaction in rats. Over several weeks bronchitis and peribronchitis develop. Some of the animals die of necrotizing pneumonia, others recover with septal fibrosis. Methylsilicon oil is cleared from the lung via the mucociliary route. Neither interstitial storage of the injected material nor accumulation in other organs is noted. The intra-alveolar macrophages are very large and besides lamellar bodies contain vesicles of various sizes, which presumably assume contain methylsilicon oil. In the alveoli an amorphous material is observed and also lattice-like lamellar and tubular structures thought to be connected with the surfactant material.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00539032
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  • 8
    Electronic Resource
    Electronic Resource
    Experimental calcium oxalate retinopathy compared with cystine- and tyrosine-induced retinal damage (1986)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 224 (1986), S. 414-418 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Subcutaneously administered calcium chloride and dibutyloxalate solutions produce calcium-oxalate retinopathy in rabbits that is demonstrable ophthalmoscopically and histologically, with remarkable impairment of the electroretinogram, whereas orally administered cystine seems to be inefficient. Orally administered tyrosine induces transitory pathological ERG signals in rabbits.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02173355
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  • 9
    Electronic Resource
    Electronic Resource
    Experimentally induced cystine keratopathy in rabbits (1986)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 224 (1986), S. 443-446 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract l-Cystine was administered orally to albino and nonalbino rabbits in order to study cystine-induced corneal lesions. Contact and noncontact specular microsccopy revealed opaque preendothelial structures similar to those found in benign cystinosis in humans. Light microscopy showed cytoplasmatic vacuoles in the basal cell layer of the corneal epithelium. Using scanning electron microscopy, increased desquamation of the corneal epithelial cells and massive deposition of proteinic material on the surface of the corneal endothelium were demonstrated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02173360
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  • 10
    Electronic Resource
    Electronic Resource
    Experimentally induced calcium oxalate keratopathy in rabbits (1986)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 224 (1986), S. 447-451 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a period of 21 days, six subcutaneous injections of calcium chloride and dibutyloxalate solution produced a flecklike, polymorphous corneal opacity and a slight stromal clouding in chinchilla rabbits, as seen with the slit lamp. In front of the endothelium, opaque structures could be seen with the specular microscope. New Zealand white rabbits showed only a diffuse corneal clouding. Light microscopy revealed a reticular alteration of the cytoplasm in the basal layers of the corneal epithelium primarily in chinchilla bastard rabbits. In central corneal areas an irregular structure of the basal epithelial cells and a papillalike alteration of the stromal-epithelial border was seen. In the endothelium an increased formation of vacuoles was observed in both species. Scanning electron microscopy demonstrated endothelial cell loss.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02173361
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