PubMed HealthSearch

Biomedical subjects

H Ritter

Publications and source records attributed to H Ritter.

At least 19 recordsLinked to original sources

Temperature gradient gel electrophoresis: rapid detection of alpha-1-antitrypsin deficiency carriers.

The homozygous state of the alpha-1-antitrypsin (alpha 1AT) deficiency variant Z is associated with severe liver damage in early childhood and progressive lung emphysema in adulthood. A single base transition (G to A in codon 342) in exon V is causing the severe disease. The Glu342 to Lys342 mutation can be detected conventionally by isoelectric focusing (IEF) or on the DNA level by the newly developed method of temperature gradient gel electrophoresis (TGGE). It is the aim of this study to describe the TGGE technique, to compare the results with conventional IEF, and to discuss its efficiency for different diagnostic applications.

Alleles

Genetic studies of antithrombin III with IEF and ASO hybridization.

Antithrombin III (AT III) was analyzed by two different methods. Isoelectric focusing was used to screen 3 different populations (southwest Germans, Portuguese, Xavante Indians). The same variant was detected both in the German and the Portuguese populations with frequencies of 0.007 and 0.00024, respectively. Further characterization of this variant was performed by allele specific oligonucleotides. By this means, it was possible to identify the variant as AT III Dublin, originally found in 4 Irish families.

Antithrombin III

Polymorphism of alanine aminotransferase (E.C.2.7.6.1): common and rare alleles.

Gene frequencies of common and rare GPT alleles derived from an investigation of 1139 unrelated, healthy individuals from southwestern Germany are given. GPT typing was performed by means of horizontal starch gel electrophoresis in a Tris-histidine x HCl buffer system. In addition, a new electrophoretic variant, GPT9, is described. The frequencies of the GPT alleles observed were calculated as: GPT1, 0.4987; GPT2, 0.4686; GPT1M, 0.022; GPT0, 0.005; GPT3, 0.0022; GPT4, 0.0025; GPT8, 0.0005; GPT9, 0.0005.

Alanine Transaminase

Human mitochondrial glutamic-oxaloacetic-transaminase, GOTM: formal genetics.

The polymorphism of human GOTM was investigated in red blood cells by means of routine starch gel electrophoresis. The formal model of two common alleles, GOTM1 and GOTM2, at an autosomal locus GOTM was confirmed by examination of 640 mother-child pairs. The frequency of GOTM1 in this sample from southwestern Germany was calculated to be 0.981 +/- 0.003.

Alleles

Human pancreatic amylase polymorphism: formal genetics and population genetics.

The genetically determined polymorphism of human pancreatic amylase (E.C. 3.2.1.1), AMY2, is demonstrated in serum specimens by agarose gel electrophoresis. We investigated 325 mother-child pairs and 2594 unrelated individuals from southwestern Germany. This study confirms the formal hypothesis of two common alleles AMY1/2, AMY2/2 and possibly two rare alleles AMY3/2, AMY4/2 at an autosomal locus AMY2. The frequency of the AMY1/2 allele was calculated as 0.951; AMY3/2 and AMY4/2 seem to have a frequency of 0.001 in this sample.

Alleles

Initial experiences with a total knee prosthesis implanted without bone cement.

Prosthetic loosening and stem fractures have been the most frequently encountered complications of knee arthroplasties using the Guepar Hinged prothesis. The insufficient intramedullary fixation of the stem and the use of cement in the femur and tibia are primarily responsible for these complications. In our clinic, we have used an altered Guepar Hinged prothesis since 1975. The femoral and tibial stems are lengthened with medullary nails, resulting in stems with high bending and torsional stress capacities. The fixation strength of these special long stems in the medullary cavities is such that we no longer use cement for this prosthesis. The initial results of our cementless implantation of these special long-stem knee prostheses, and the advantages of this method are reported.

Arthritis

[Isotope methods in the diagnosis of venous disease. I. Methods of radionuclide venography (author's transl)].

The method of radionuclide venography is best determined by the localisation and type of suspected venous abnormality. The authors describe four methods using 99mTc microspheres and 99mTc-pertechnetate. Correlation of the isotope and angiographic findings in 150 patients indicated an accuracy of 90% for the isotope methods. The risks of radionuclide venography are discussed. Isotope venography is recommended as a simple, non-invasive technique.

Arm

[Isotope methods in the diagnosis of venous disease. II. Results of radionuclide venography (author's transl)].

The frequency of scintigraphic findings in the presence of thromboses, post-thrombotic changes and in normal veins, was determined in 150 patients. The results of radionuclide venography and contrast venography in these patients have been compared. Abnormalities in veins can be detected by radionuclide venography with a high degree of accuracy. Differentiation between acute and chronic thrombosis and post-thrombotic changes can only be made by invasive contrast venography.

Adult

[Isotope methods in the radiological diagnosis of venous disease. II. Indications and accuracy (author's transl)].

Radiological diagnostic methods for the diagnosis of abnormalities of veins were discussed in the light of 1,683 contrast venograms and isotope examinations in 650 patients with acute and chronic diseases of veins. For patients with increased thrombotic risks, the 125 I-fibrinogen test is recommended as a sensitive and simple method. Where there are symptoms of venous thrombosis, radionuclide venography, together with other noninvasive methods, may be used for establishing whether there are indications for contrast venography. These may also provide evidence of previous pulmonary emboli. These methods should also be used where there is clinical suspicion of previous pulmonary emboli. Non-invasive isotope methods have proved to be sensitive techniques for preliminary examinations and for follow-up. Contrast venography is necessary if definitive treatment is planned.

Acute Disease

[99mTc marking of gel foam for catheter embolisation (author's transl)].

A simple method is described for marking gel foam particles with 99mTc after reduction of the pertechnetate. This is carried out in the Luer lock syringe to be used for the injection. After embolisation and control angiography, the patient is placed under a scintillation camera. The position of the embolising material can then be demonstrated scintigraphically. In six patients marked emboli were found to be correctly placed. In another patient undergoing a second embolisation for a renal tumour, particles were found in the peripheral circulation.

Angiography

[Fusiform arterial dilations of the vessels of the posterior cranial fossa].

In a 28-year-old woman with symptomatic cerebral convulsions, vertebral angiography showed two spindle-like dilatations which are probably located in the vascular province of the A. cerebelli superior. The EEG showed convulsive activities, the PEG a beginning hydrocephalus. Neurological findings and fundoscopy were normal. Lues could be ruled out. Differentiation from a cerebral phlebectasia, which is also rare, was reliably possible. An association between the vascular dilatations and the convulsions is not assumed.

Adult

PGM1 subtyping by means of acid starch gel electrophoresis.

'PGM1 subtyping' can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different cathodal mobilities of PGM1-gene products, the allelic superscripts for PGM1 were designated as 1F, 1S, and 2F, 2S, respectively. Gene frequencies of a population sample from Southwestern Germany are presented. They fit in well with other, previously published data on this matter.

Electrophoresis, Starch Gel