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Biomedical subjects

H G Benkmann

Publications and source records attributed to H G Benkmann.

At least 19 recordsLinked to original sources
PubMed1978

Creatine kinase isoenzyme patterns in Duchenne muscular dystrophy.

Serum creatine kinase isoenzymes were studied in 41 patients suffering from Duchenne type muscular dystrophy and 20 mothers of patients (carriers) by cellulose acetate electrophoresis. Both the MM and MB types were found in all cases of Duchenne type dystrophy patients, and in carriers with highly elevated total creatine kinase activity BB was not observed above the detection limits of the methods used. However, a so-called atypical CK--BB band has been demonstrated.

Creatine Kinase↗
PubMed1978

[Malignant hyperthermia during the 13th general anaesthesia (author's transl)].

We report a case of malignant hyperthermia in a man of 41 years during his 13th general anaesthesia. All previous anaesthetics were quite normal. Musculoskeletal abnormalities and increased CPK-levels are to be found in some members of the patient's family. The combined use of suxamethonium and halothane might have caused the development of malignant hyperthermia. As a concept of the aetiology of the syndrome the case history indicates that it may be stress-related.

Adult↗
PubMed1977

Activity of creatine kinase isoenzyme MB in serum and red cell acetylcholinesterase variants in patients with Duchenne muscular dystrophy.

Activity of creatine kinase isoenzyme MB in serum and variants of red cell acetylcholinesterase were determined in patients with Duchenne muscular dystrophy, in other forms of Dystrophy and in family members of Duchenne patients and healthy controls. Creatine kinase isoenzyme MB was observed only in all cases of DMD as well as variants of red cell acetylcholinesterase characterized by so-called inhibitor numbers. Carriers of Duchenne muscular dystrophy can be distinguished from Duchenne patients and healthy controls by estimation of Acetylcholinesterase variants.

Acetylcholinesterase↗
PubMed1977

Genetic studies in Ecuador: acetylator phenotypes, red cell enzyme and serum protein polymorphisms of Shuara Indians.

Population genetic studies of Shuara Indians in Ecuador are performed for GPT, AP, PGM1, Ak, EsD, 6-PGD, Hp, Gc, C3, Bg, ChE, Tf, Pi, Bf phenotypes, IgG, IgA, IgM, C3, C3-proactivator, C4 levels and acetylator phenotypes. Some systems having a polymorphism in many other populations showed a lack of some of those alleles in the population under study (C3, ChE, Tf, AK and almost absent 6-PGD, Bg, Bf).

Acetylation↗
PubMed1977

The use of serum cholinesterase in succinylcholine apnoea.

Fifteen patients demonstrating unexpected prolonged apnoea lasting several hours after succinylcholine have been treated by a new preparation of human serum cholinesterase. Adequate spontaneous respiration was re-established in an average period of ten minutes after the injection. In 12 patients biochemical genetic examinations confirmed the presence of an atypical serum cholinesterase. In three patients none of the usual variants were found. It is therefore supposed that other unknown variants of serum cholinesterase exist which cannot hydrolyze succinylcholine. The use of serum cholinesterase in succinylcholine apnoea provided considerable relief to both patient and anaesthetist.

Adolescent↗
PubMed1977

Red cell enzyme polymorphisms in different populations of Afghanistan.

In four population groups of Afghanistan, the Pushtu, Tajik, Hazara, and Usbek, the red cell enzymes EsD, GPT, AcP, PGM1, ADA, AK, and 6PGD were studied. Significant differences in frequency occurred between the Hazara and others in 6PGD, PGM1, and AK system, and between the Pushtu and others in the ADA system.

Acid Phosphatase↗
PubMed1977

The acetylator polymorphism in four populations of Afghanistan.

Studies of the acetylator polymorphism in Pushtoons, Tajiks, Hazaras and Usbeks living in Afghanistan revealed a lower frequency of the allele ACS in the last two populations. The results were compared with those of other populations. The importance of this polymorphism for therapy and a possible relation to the use of alkaloids in form of spices and drugs is discussed.

Acetyltransferases↗
PubMed1977

Serum protein polymorphisms in four populations of Afghanistan.

Gene frequencies of the serum proteins third component of complement (C3) transferrin (Tf), haptoglobin (Hp), group specific component (Gc), serum cholinesterase (E1), alpha1-antitrypsin (Pi), beta2-glycoprotein I (Bg), and ceruloplasmin (Cp) in the Tajiks, Pushtoons, Hazaras, and Usbeks in Afghanistan were reported. Rare variants were observed in the C3, Tf, and Pi systems.

Afghanistan↗
PubMed1976

Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan.

The C3 phenotype distribution was studied in 4 different populations from Afghanistan. The gene frequencies of C3S allele were: Tajiks (0,8547), Pushtoons (0.8812), Hazaras (0.9036) and Osbeks (0.8530). These values were significantly higher than in European populations studied previously. No significant differences were found between the mean serum levels of C3, C4 and C3-proactivator among 4 population groups. A higher concentration of IgG, IgA and IgM was observed in Afghanistan sera than reported for Europeans.

Afghanistan↗
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

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↗