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E Rupprecht

Publications and source records attributed to E Rupprecht.

At least 55 records · Page 3Linked to original sources
PubMed1984

[Metachondromatosis. Report of a family with 4 cases].

Metachondromatosis is a hereditary dominant condition, which was differentiated from multiple hereditary cartilaginous exostoses by Maroteaux in 1971. We observed a family with 4 patients in 3 generations. The condition manifested in early childhood, showed a spontaneous regression after cessation of growth, and could be diagnosed with certainty by radiological signs. We found multiple tiny periarticular calcifications, small exostoses especially on the short tubular bones, and enchondromatous bone changes. The vertebral column takes part in the bone dysplasia. In addition, our patients show deformities of nails and teeth.

Adolescent↗
PubMed1982

[Short rib-polydactyly syndrome of the Saldino-Noonan type in 2 siblings].

Two stillborn female siblings with short rib-polydactyly syndrome type I (Saldino-Noonan) are described. Besides the characteristic narrow thorax, the pronounced micromelia and a severe dysplasia of the skeleton, a series of organic malformations have been found, in particular in the gastro-intestinal tract and in the urogenital system. The clinical, radiological and anatomo-pathological differences between the four presently known types of the SRP syndrome are described. The importance of postmortem X-ray diagnosis and of genetic counseling (autosomal recessive transmission) is emphasized.

Abnormalities, Multiple↗
PubMed1982

[Diagnosis and course of congenital lobar emphysema].

Within 20 years 22 children with congenital lobar emphysema were observed. 13 children were infants, 9 were already older than a year, thus, clearly deviating from the age structure reported in literature. 15 children underwent an operation, in 2 children the alterations disappeared completely respectively partially. One child prematurely born died before operation. The upper lobe was concerned most frequently (11 times), followed by the right upper lobe (6 times) and the right middle lobe (4 times). Bronchoscopy was showing in surprising frequency a stenosis of the trachea (2 times) respectively of the main bronchus (7 times). In 13 of 15 cases bronchographically investigated the displacement and compression of the adjacent lobar bronchi were predominant. The regression of the emphysema observed in a x-ray picture series initially with an "opaque lung" and later on with spontaneous disappearance of the lobar emphysema is more fully described. In the opinion of the authors the analysis of their cases is justifying a change in the conception concerning age structure and urgency of surgery. Bronchological examination is considered of importance for differential diagnostics especially to delimit cystic pulmonary alteration.

Aging↗
PubMed1980

[Experiences with oral N-acetyl-cysteine treatment in children suffering from cystic fibrosis (author's transl)].

A clinical test with the oral use of Fluimucil was performed by ourselves: Forty-two children, who had been in stable condition for 8--10 years under inhalation therapy with Mucosolvin, were treated for a period of 6 months with Fluimucil used orally. We compared the clinical, bronchoscopic and lung function finding s before and after the 6-month period. In the case of 7 children the oral treatment had to be discontinued and replaced by a resumption of inhalation therapy after 6 to 12 weeks on an account of an exacerbation of the lungstate. The bronchoscopic studies showed results worse in 44% of the cases, unchanged in 22%, and improved in 34%. For lung-function the figures were 31%, 51% and 18% respectively. We can conclude from our results that it is not possible to replace inhalation therapy by an oral treatment for all children with cystic fibrosis. We can, however, surmise that such a treatment will be possible for 50--60% of the children and this must be considered as a significant step forward in the care of these children.

Acetylcysteine↗
PubMed1978

[The respirophonogram as a means of drug screening (author's transl)].

Respirophonography is an objective method of measuring respiratory and adventicious sounds. Current techniques make a perfect, albeit somewhat tedious registering of these respiratory murmurs possible, which can then be analysed for frequency. In this paper the method is investigated for its applicability to drug screening and proved satisfactory in a double blind trial and a pilot study. During treatment with secretolytic drugs the pathological respiratory sounds change or cease. In the respirophonogram this is recognisable by the fact that the volume peaks are either displaced to another frequency area or that they disappear altogether. The frequency range 100--500 Hz is the most significant as far as the respiratory murmurs are concerned. The concepts familiar to the clinician experienced in auscultation are set out in an unaccustomed way in the frequency-volume diagram. The respirophonogram offers the advantage that it can be documented and that findings can therefore be compared objectively. From the point of view of the clinician respirophonography is despite its far reaching perfection already attained, still technically in a preliminary stage.

Adult↗
PubMed1977

Isolation of mutants conditionally blocked in the biosynthesis of the 3-deoxy-D-manno-octulosonic-acid--lipid-A part of lipopolysaccharides derived from Salmonella typhimurium.

A procedure is described for the selection of conditional 3-deoxy-D-manno-octulosonic-acid--Lipid A mutants which depends on temperature sensitivity for both synthesis of complete lipopolysaccharide and for growth. Using this procedure new types of mutants were isolated which cease growth and accumulate lipid A precursors following a shift to nonpermissive temperatures. All precursor molecules differ in their charge as judged by DEAE-cellulose chromatography. While they all contain glucosamine, phosphate and 3-hydroxymyristic acid, they lack detectable 3-deoxy-D-manno-octulosonic acid (dOclA) as well as the nonhydroxylated fatty acids of the complete lipid A structure. Three mutants proved to be conditionally defective in dOclA metabolism, whereas one seems to be blocked at a relatively early step in lipid A synthesis. The phenotypes of all these mutants appear to be due to single mutations by reversion analysis and by characterization of the temperature-resistant revertants. Studies of these mutants may shed light on the essential role of the complete dOclA--lipid A part of lipopolysaccharides in membrane function.

Aldehyde-Lyases↗
PubMed1977

[Induction of malformations by N-methyl-N-nitrosourea (MNU) (author's transl))].

UNLABELLED: After observing multiple malformations in a stillborn infant whose mother was in contact with MNU during pregnancy, the inhalation of evaporated MNU solution or diazomethane was regarded as a possible cause. An attempt was made to reproduce the same conditions in experiments with rats. MATERIAL AND METHODS: The experiments were carried out with 46 pregnant rats yielding 370 fetuses. With the aid of an atomizer a solution of 50 mg MNU was atomized in a container of 12 liters. In each test up to 3 rats were exposed for 30 min (group A1). In other groups (B1--3) rats placed into the same container breathed diazomethane which was produced by dropping NaOH on MNU. During this experiment, rats were apathetic and their respiration was accelerated. In group C1--9, MNU was injected intraveneously or intraperitoneally. Animals which had no contact neither with complete MNU nor with its decomposition products served as control (group D1). Rats were killed at the 21st day of pregnancy. After laparotomy, fetuses were weighed and fixed in Bouin's solution or in ethanol. Fetuses were examined macroscopically. Afterwards the head and the trunk were dissected. In a number of cases the skeleton was stained with alizarin red S. RESULTS: Malformations that affected the skeleton and the central nervous system could be found only in those experiments in which rats were exposed to the complete teratogenic agent. By means of external inspection microcephalia, micrognathia, cleft palate, micromelia, syn- and polydactylia, lordosis and skoliosis of the spinal column as well as deviations of the extremities were observed. Above this, by bone preparation by alizarin red S malformations of the skull (micrognathia, aplasia of the zygomatic bone) hypoplasia and deformations of the clavicula, scapula, ribs as well as of bones of the extremities were found. MNU led to complex malformations in the central nervous system comprising microencephalia, hydrocephalus as well as defects of the septum pellucidum and the corpus callosum. Frequency and spectrum of malformations depended on the dosage and the age of pregnancy. As the embryotoxic activity was relatively low at day 13 and as malformations were observed in all cases, this day proved to be most effective one. In contrast to the application of MNU, after inhalation of diazomethane malformations did not occur. However, as a toxic effect a significant increase in dead fetuses and a reduction of the body weight was registered. After inhalation of atomized MNU solution, neither malformations nor toxic injuries could be observed. The experiments do not support the hypothesis, that anomalies found in the stillborn infant are caused by mother's contact with MNU. As demonstrated, in most cases it is very difficult to prove any interrelationship between a chemical agent and the occurrence of malformations in man. Therefore, similar observations should be published even if the connection cannot be ascertained exactly, for only by an accumulation of related cases a positive correlation can be verified.

Animals↗
PubMed1977

[Unilateral aplasia and hypoplasia of pulmonary artery in childhood (author's transl)].

In the light of 8 observations, made by the authors, vasoanomalies underlying the syndrome of the unilateral hyperlucent lung are discussed in their correlation to homolateral bronchial lesions. There were 3 cases with unilateral aplasia of the pulmonary artery in which the unilateral hyperlucency was found always on the healthy side. In these cases there was a normal bronchogram on both sides. The vascularization by the bronchial arteries causes characteristic changes both in the X-ray-picture and endoscopy. Hypoplasia of the pulmonary artery occurring simultaneously with hyperlucency of the affected side of the lung was found in five cases, 4 times in connection with homolateral, severe, diffuse deforming bronchitis and bronchiectases and 1 case with congenital bronchus stenosis. There is the opinion that besides a congenital form of the hypoplasia of the pulmonary artery a (virus?) --pneumonia, acquired in early childhood, can lead to a pulmonary hypoplasia and a bronchopulmonary dysplasia. The diagnosis can be made only after several special examinations performed in a multi-step system. The significance of the lung scintigraphy within the scope of this complex diagnostics is especially emphasized. Indication for surgery should be made very cautiously. Antibiotic long-term therapy and dsipensary care are considered to be essential.

Adolescent↗
PubMed1976

Impaired ganglioside synthesis in rat liver after D-galactosamine administration in vivo.

D-Galactosamine reduces the hepatic content of uridine phosphates, UDP-galactose, and UDPglucose due to an accumulation of UDP-amino sugars; this deficiency can result in severe hepatocellular damage. Alterations of glycosphingolipid synthesis in the early phase of this pathogenic process were studied by measurements of the incorporation of labeled galactose into glycosphingolipids of rat liver. [1-14C]Galactose was injected 2 h after galactosamine administration and the specific radioactivities of the glycosphingolipid precursors, UCPgalactose and UDPglucose, were determined. The specific radioactivity of UDPgalactose, when integrated over the whole period of radioactive synthesis, was four times higher in the galactosamine-treated animals than in the controls; the corresponding ratio of UDPglucose was 0.85. The pattern of the glycosphingolipids isolated from the livers of normal and galactosamine-treated rats resembled that described by Siddiqui and Hakomori (1970, Cancer Res. 30, 2930-2936); GL1, GM3,GM1, GD1, and a small amount of GT could be characterized. The specific radioactivities of glucose and galactose obtained from individual glycosphingolipids were determined in normal and galactosamine-treated livers. The synthesis of the glycosphingolipids was calculated using the respective data of the UDPhexoses. The labeling of glucosylceramide (GL1) was not altered and only a small change of GM3 could be detected; the synthesis of gangliosides GM1 and GD1, however, was inhibited by 95% or more between 4 and 6 h after galactosamine administration.

Animals↗