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Biomedical subjects

H W Goedde

Publications and source records attributed to H W Goedde.

At least 199 records · Page 11Linked to original sources
PubMed1976

A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome.

A method is described which enables prenatal diagnosis of Lesch Nyhan Syndrome (HGPRT deficiency) to be made within 7-10 days. The procedure is based on the direct cultivation of amniotic cells in microtest II plates; the HGPRT reaction is performed in individual wells containing between 500 to 10,000 cells, and is followed by separation of the radioactive reaction products by means of microchromatography on 3 cm x 5 cm PEI plates. This method permits determination of the actual HGPRT enzyme activity of the cell lines.

Amniotic Fluid↗
PubMed1976

Linkage studies between HL-A and GPT polymorphisms and other genetic markers.

The phenotypes of 56 families with 126 children from the Hamburg area as well as gene frequencies and segregation of the genetic markers GPT, AP, ADA, AK, PGM1, PGM3, 6-PGD, CHE, C3, Gc, Tf, Hp and Cp were studied. In regard to linkage, the informative families were correlated to the results of HL-A and GPT typing. The linkage was tested according to the sequential test by MORTON (1955). See article. For other gene loci, linkage to the HL-A or GPT system could not be proved. But the positive lod scores of HL-A/GPT, HL-A/AP and GPT/6-PGD may give indication for linkage.

Alanine Transaminase↗
PubMed1976

[Succinyldicholin sensitivity resulting from genetically determined serumcholinesterase variants].

Prolonged apnea after succinyldicholin is a pharmacogenetic phenomenon. Estimation of genetically determined cholinesterase variants of patients with a prolonged apnea after succinyldicholin or in patients with cholinesterase deficiency respectively are described. The importance of atypical cholinesterase phenotypes in anaesthesia and the possibility of a therapy of prolonged apnea are mentioned. Biochemical data of atypical cholinesterase variants as cause of the prolonged degradation of succinyldicholin as well as formal genetic aspects of cholinesterase polymorphism are discussed.

Alleles↗
PubMed1975

[Lip prints--variability and genetics (author's transl)].

In a sample of 500 persons, including 76 families with 133 children, 22 mono- and 17 dizygote twins, lip prints were prepared for the study of variability and genetical basis of ridge-pattern in the region of mucous membrane lips. Taking 4 classes of pattern with different ridge-branching as a basis we observed more frequently branched pattern at the upper lip and mainly simple pattern at the lower lip. About 30% of the lip-prints showed whirling figures--at the upper lip simple and median, at the lower lip double and paramedian. Investigations during several months showed stability against environmental factors. The results of twins, families and mother(father)-child combinations proved a genetical basis of lip-prints. Applications of cheiloscopy to genetical investigations are reported.

Adolescent↗
PubMed1975

Studies on the polymorphism of C3, Tf and Bg in Down's syndrome and other diseases.

The distribution of phenotypes C3, Ff and Bg was investigated in sera of patients with Down's syndrome, oligophrenia, Wilson's disease and heart infarct. Quantitative determination of the concentration of C3 and C4 components of human complement was also carried out in these patients. The results are compared to healthy controls and are discussed with already reported data from other authors. Despite differences in the percentage distribution of various phenotypes in the patients' sera as compared to that of the controls, no statistically significant association could be established.

Complement C3↗
PubMed1975

[Quantitative determination and phenotyping of ceruloplasmin in morbus Wilson (author's transl)].

Sera of 17 patients with Wilson's disease and of 48 relatives were investigated as to a possible correlation between ceruloplasmin phenotypes and Wilson's disease. The control group included 727 healthy subjects. The results of the quantitative determination of ceruloplasmin confirmed the overlapping in the groups of so-called heterozygotes and controls known from the literature. The ceruloplasmin phenotypes in starch gel electrophoresis we observed were of the most common phenotype Cp BB in the patients as well as in the controls. Therefore, patients with Wilson's disease also show the normal Cp-phenotypes.

Adult↗
PubMed1975

[Alpha-antitrypsin deficiency in infancy].

Clinical, histological (including electron-microscopic), immunohistochemical and genetic studies were performed on two infants with alpha1-antitrypsin deficiency. The clinical picture was one of neonatal biliary stasis. Liver biopsies revealed multiple cytoplasmic acidophilic bodies within many cells of the liver parenchyma which were strongly periodic acid-Schiff-positive, diastase-resistant and stained selectively with fluorescein-labelled rabbit antihuman alpha1-antitrypsin. Ultrastructurally, the bodies were situated within enlarged cisterns of the endoplasmatic reticulum. Both infants were of the protease inhibitor (Pi) phenotype ZZ, having inherited on PiZ gene from each parent. Results of Pi typing of both families were consistent with an autosomal co-dominant inheritance. Both infants are clinically well except for slight hepatomegaly at one year of age. But transaminase and gamma-glutamyl transpeptidase activities have remained elevated.

Adult↗
PubMed1975

Rapid determination of hypoxanthine-guanine-phosphoribosyl transferase in human fibroblasts and amniotic cells.

A micromodification of the method of HGPRT and APRT assay is described, which measures the incorporation of 14C hypoxanthine and 14C adenine into cultured skin fibroblasts and amniotic cells grown on microtiter plates. Only about 10000 cells are needed per assay. By this method HGPRT deficient cells can be easily distinguished from normal cells. Investigations with respect to the effect of substrate concentrations and time of incubation have been carried out on some normal fibroblast cell lines, amniotic cell lines and 3 Lesch-Nyhan cell lines. Another modified method is described for quantitative determination of HGPRT activity by means of radio thin-layer chromatography.

Adenine↗
PubMed1975

Biochemical, immunological and genetic studies in leprosy. I. Changes in serum lactate dehydrogenase isoenzymes, creatine phosphokinase and aldolase activity in different forms of leprosy.

Serum lactate dehydrogenase isoenzymes, creatine phosphokinase and aldolase activity were determined in healthy control subjects and in lepromatous and tuberculoid leprosy patients from Ethiopia. Sera from lepromatous patients showed a higher total LDH activity compared with control subject. The values for tuberculoid leprosy patients were similar to those of controls. Sera from normal healthy controls showed a higher proportion of LDH-H form (72%) while lepromatous leprosy patient's sera exhibited a higher proportion of LDH-M form (55%). Tuberculoid leprosy patients showed a pattern similar to that of healthy controls. A possible significance of these observations is discussed. No significant variations were observed in fructose-1,6-diphosphate aldolase activity within the different types of disease and controls. Although creatine phosphokinase levels in different types of leprosy decreased significantly from those of normal healthy, it falls within the reported variation of the activity in normal sera.

Creatine Kinase↗
PubMed1975

Biochemical, immunological and genetic studies in leprosy. II. Profile of immunoglobulins, complement components and C-reactive protein in sera of leprosy patients and healthy controls.

Various classes of immunoglobulins (IgA, IgM, IgG, IgD and IgE), complement components (C3 and C4) and C-reactive protein (CRP) were estimated in sera from normal healthy controls and leprosy (lepromatous and tuberculoid) patients from Ethiopia. Higher levels of IgA, IgM, IgG and IgD were found in lepromatous leprosy compared with normal healthy people while in tuberculoid leprosy only IgM, IgG and IgD levels were increased. Borderline leprosy patients showed increase in IgG level only. Although an increase in IgE was noted in lepromatous leprosy, it was not significant; the variations in IgE levels could be due to different socioeconomic background and exposure to intestinal parasites. C3 component was significantly reduced in leprosy patients compared with healthy controls while no difference in C4 component was observed. The results point towards an involvement of the "alternate pathway". A positive test against C-reactive protein antiserum was given by about 20% of the normal healthy controls while more than 60% lepromatous and tuberculoid leprosy patients were CRP positive. The results are discussed in relation to the status of immunoglobulins and complement components in leprosy and possible factors (environmental and genetic) which might affect them.

C-Reactive Protein↗
PubMed1975

Biochemical, immunological and genetic studies in leprosy. III. Genetic polymorphism of C3 and immunoglobulin profile in leprosy patients, healthy family members and controls.

148 members from 30 families (64 children) from Ethiopia, where one of more persons were affected with leprosy, were investigated for genetic polymorphism of C3, serum concentration of ss1C/ss1A-globulin and immunoglobulins A, G and M using high voltage agarose electrophoresis, immunoelectroassay and single radial immunodiffusion techniques respectively. The results are compared with related healthy controls. No association between C3 phenotypes and leprosy could be established through family studies. C3 concentration was, however, lower in leprosy patients. Difficulties and drawbacks of such studies with small families are discussed.

Adult↗