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Biomedical subjects

R Heipertz

Publications and source records attributed to R Heipertz.

At least 37 records · Page 2Linked to original sources
PubMed1978

Juvenile Huntington chorea: clinical, ultrastructural, and biochemical studies.

A brain biopsy from a 20-year-old patient whose clinical course was marked by progressive dementia and chorea since age 10 years showed increased amounts of lipofuscin, abnormal mitochondria, and other organelles in cortical neurons, neurites, and astrocytes. Juvenile Huntington chorea was confirmed at autopsy. High levels of three histone-like proteins (molecular weight 10,000 to 16,000) in the microsomal fraction of purified neurons were found by SDS-polyacrylamide gel electrophoresis. Fatty acids were abnormal in white matter sphingomyelin. These ultrastructural and biochemical findings conformed to those established in adult Huntington chorea, thus strengthening the concept of a uniform pathologic process in adult and juvenile Huntington diseases in spite of some clinical and histologic differences.

Adolescent↗
PubMed1978

[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)].

Sphingolipidoses in infancy and adulthood and associated metabolic disturbances are caused by a recessively inherited, circumscribed lysosomal enzyme deficiency in the catabolism of various structural tissue substances. After presenting detailed methods for the quantitative assay of activities of lysosomal hydrolytic enzymes in leukocytes, serum , fibroblasts, urine and organ tissue with the aid of synthetic chromogenic and fluorescent substrates the signigicance of these methods for clinical diagnosis, for the detection of homozygote persons before developing clinical symptoms (preclinical diagnosis), for the preventive prenatal diagnosis and forthe detection of heterozygote carriers is described for the following diseases: Deficiency of hexosaminidase A and B, deficiency of beta-glucosidase, deficiency or arylsulfatase A, deficiency of alpha-galactosidase, deficiency of alpha-glucosidase.

Clinical Enzyme Tests↗
PubMed1977

The fatty acid composition of sphingomyelin from adult human cerebral white matter and changes in childhood, senium and unspecific brain damage.

A micromethod for the investigation of the fatty acid composition of sphingomyelin in presented. In the cerebral white matter of 17 normal adult brains, analyzed for reference, the predominant fatty acids are C 18:0 and C 24:1. Our results are in agreement with those of other authors. Short chained fatty acids are relatively increased in young children; this shift is typical of "immature" myelin. Similar changes are described here in old persons and cases of non-specific brain damage associated with demyelination (autolysis, chronic uremia, juvenile chorea). Sphingomyelin fatty acid composition can be considered a sensitive measure of both disturbed myelination and demyelination.

Adolescent↗
PubMed1977

Serum concentrations of clozapine determined by nitrogen selective gas chromatography.

A simple gas-liquid-chromatographic method employing a nitrogen selective detector for the quantitative determination of clozapine in serum is presented. The method involves after the addition of dibenzepine as internal standard the extraction into diethylether followed by analysis of the extract dissolved in methanol. Detector linearity was established over the range of 100-1000 ng/ml serum. Clozapine levels of 9 manic patients analysed by this method are presented and discussed. A linear relationship between daily intake (mg/kg body weight) and serum levels (ng/ml) was established.

Bipolar Disorder↗
PubMed1977

The determination of serum immunoglobulin concentrations on the basis of their light-chain antigenic properties.

A method for the measurement of light-chain determined immunoglobulin concentrations (Ig-type kappa and Ig-type lambda) in serum is described. The method is based on the principle of radial immunodiffusion. The results obtained after calibration with standarized human serum and with isolated Bence-Jones protein are closely correlated. The values for Ig-type kappa, Ig-type lambda and the kappa/lambda ratio from sera with normal concentrations of IgG, IgA and IgM are presented and some problems of calibration discussed.

Adolescent↗
PubMed1977

Evaluation of a rapid gas-chromatographic method for the simultaneous quantitative determination of ethosuximide, phenyletheylmalonediamide, carbamazepine, phenobarbital, primidone and diphenylhydantoin in human serum.

A simple and rapid gas chromatographic method for the simultaneous estimation of the anticonvulsant drugs ethosuximide, carbamazepine, phenobarbital, primidone, diphenylhydantoin and the metabolite PEMA in serum is presented. The method is based on a simple ether extraction of 1 ml serum before and after precipitation of the proteins by ammonium sulfate and injection of the extract dissolved in methanol without derivative formation. Gas chromatographic separation is performed on a highly polar acidic phase (SP 1000, a terephthalic acid modified Carbowax 20 M), for detection the instrument is equipped with a nitrogen selective detector, quantitation is performed by automatic electronic integration of peak areas in relation to the internal standard Mesantoin. The optimal approach to the gas chromatographic analysis of "problem drugs" like carbamazepine and phenobarbital is discussed, various stationary phases and support materials are compared for effectiveness with this method. In the analysis of over 800 routine serum samples as well as internal and external quality control samples this method was found to be reliable and the results reproducible.

Anticonvulsants↗
PubMed1977

Discrimination of elevated immunoglobulin concentrations in CSF due to inflammatory reaction of the central nervous system and blood-brain-barrier dysfunction.

Inflammatory reactions of the central nervous system (CNS) are diagnosed by the determination of elevated immunoglobulin concentrations in cerebrospinal fluid (CSF) due to local production of immunoglobulins. However, unspecific disturbances of the blood-brain-barrier (BBB) can also cause an increase of CSF immunoglobulin concentration as a result of filtration from blood serum. The methods described here attempt a more precise characterization of immunoglobulins in CSF and to define that portion of CSF immunoglobulin derived from the CNS. Albumin and the immunoglobulin fractions IgG, IgA and IgM are determined in serum and CSF. The ratio of albumin in serum and CSF is taken as an indicator of BBB function. By the determination of quotients an overproportional immunoglobulin elevation in CSF as expression of an inflammatory reaction of the CNS can be detected. Methodological problems and the definition of normal ranges are discussed.

Albumins↗
PubMed1977

Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state.

In a 5-year follow-up of a case of adult metachromatic leukodystrophy, already diagnosed in the preclinical stage, the development of the symptoms of this disease could be studied in detail: initially, lack of drive, emotional lability and depressive mood. At the same time, pain in the arms and beginning gait disturbance. Later, impairment of memory and concentration, disorientation, inadequate behavior and progression of gait disturbance. Finally spastic atactic gait with small steps and dyspractic components, coordination disturbances with writing dysfunction, fast dysarthric speech, hyperkinetic activity, compulsory emotional outbursts and progressive dementia. Only minor neurological signs such as reflex abnormalities. In the EEG, slight slowing of frequencies compared to earlier tracings. Increasing diminution of nerve conduction velocity in the lower limbs. Only minor increase of CSF protein (51 mg%). In spite of normal vision, evoked visual potentials abnormal, response of optical and electrical blink reflexes delayed. Imperfect filling of gallbladder. No significant quantitative changes of the biochemical parameters compared with the findings made 5 years earlier (excretion of urinary sulfatides, diminished activity of arylfulfatase A in urine and leukocytes).

Adult↗
PubMed1977

[Exchange of aromatically bound halogen for OH- and SCH3-groups in metabolising clozapine in the human organism (author's transl)].

8-Chloro-11-(4-methyl-1-piperazinyl)-5H-dibenzo-(b,e)(1,4)-diazepine (clozapine, 1) is metabolized in humans by exchange of the aromatic halogen for a hydroxy- or a methylthio-group (compounds 2 and 3). Further metabolites are the N-demethyl derivatives of 2 and 3, the compounds 4 and 5. In addition a clozapine metabolite with the structure 6 with an oxidized piperazine ring was found. The presence of a metabolite with an oxidized sulfur atom is suggested. Possible ways for the formation of these metabolites are discussed.

Clozapine↗
PubMed1977

[Treatment of manic psychosis with clozapine (author's transl)].

Between January 1974 and June 1975 52 in-patients with mania were treated with Clozapine. In one half of the patients this was the only drug throughout. It was so far thought to be indicated mainly for schizophrenics. Its main action mostly was immediate (partly on the first or second day) and was characterised by initial sedation and subsequent improvement of increased motivation and flight of ideas. On the basis of our present experience Clozapine appears to be superior in the treatment of mania in its main and side effects. Patients prefer it often because of the absence of extrapyramidal side-effects. The in-patient treatment was on average much shorter with Clozapine than with other drugs. These first observations demand further tests for this specific indication.

Adolescent↗
PubMed1976

The fatty acid composition of major glycosphingolipids (cerebrosides and sulfatides) in human cerebral white matter measured by a simple micromethod.

A micromethod for the investigation of the fatty acid composition of myelin glycosphingolipids (cerebrosides and sulfatides) suitable for general application in the investigation of neurological disorders, especially demyelinating diseases, is presented. Using the lipids extracted from 1 g of material these are freed of phospholipids by Florisil column chromatography and separated by thin-layer chromatography into 2 cerebroside and sulfatide fractions which are analyzed individually. The results obtained from the white matter of 13 normal adult brains are distributed within a narrow range which is most pronounced for the group of long chain fatty acids. Our results also agree with those quoted from literature.

Adolescent↗
PubMed1976

Human leukocyte peroxidase: activity of a soluble and membrane-bound enzyme form in normal persons and patients with neuronal ceroid-lipofuscinosis.

Human leukocytes contain a peroxidase fraction soluble in 0.1 M phosphate buffer and an insoluble peroxidase component with 10--15 times higher specific activity which can be extracted by 0.1 M phosphate buffer + 0.2% Triton X-100 + 0.2% sodium taurocholate and sonication. Both enzyme components have been estimated spectrophotometrically with the substrate hydrogen peroxide (final concentration 1 mM) and the hydrogen donor p-phenylenediamine (final concentration 28-55 mM) within the first 60 sec. The pH-optimum of the soluble and membrane-bound leukocyte peroxidase is at pH 7.0 with a second smaller peak at pH 5.5. Using 0.2 M boric acid/0.05 M sodium borate buffer (pH 7.6) instead of phosphate buffer a 40%-50% increase of enzyme activity can be achieved. In two patients with the juvenile form of neuronal ceroid-lipofuscinosis (type Spielmeyer-Vogt) the activity of soluble leukocyte peroxidase was considerably reduced, in one patient with the late infantile form (type Jansky-Bielschowsky) the activity was just below the normal range, and in two patients with the adult form (type Kuf) activity was normal. In all patients the activity of membrane-bound leukocyte peroxidase was not significantly altered. Only one of four heterozygotes for the juvenile type had deficient values of the soluble enzyme. The variability of the peroxidase findings in patients and carriers with neuronal ceroid-lipofuscinosis make it uncertain whether this represents the primary enzymic defect.

Adolescent↗
PubMed1976

Human saliva peroxidase: microanalytical isoelectric fractionation and properties in normal persons and in cases with neuronal ceroid-lipofuscinosis.

Human saliva contains a high peroxidase activity that can be estimated spectrophotometrically with the hydrogen donor p-phenylenediamine and the substrate hydrogen peroxide from 20 mul of material. The pH optimum of the enzyme with citrate-phosphate buffer is 5.5. After microanalytical isoelectric fractionation 3 main isoenzyme components at pI 8.6, 6.5 and 4.3, and a number of isoenzyme subfractions at pI 9.5, 7.3 and 3.8 are detectable. In 3 patients with the juvenile form of neuronal ceroid-lipofuscinosis (type Spielmeyer-Vogt), in which a deficiency of leukocyte peroxidase had been reported by other authors, both the total activity of saliva peroxidase and the activity of individual isoenzymes were found to be within normal limits. These findings are not consistent with a generalized peroxidase deficiency in this disease.

Ceroid↗
PubMed1975

[Differential diagnosis of congenital lipidoses by lipid analyses of body fluids, biopsy and autopsy tissue].

1. Presentation of the commomly used procedures for the extraction and separation of total lipids, glycolipids and phosholipids from fresh and formalin-fixed organs tissues (brain, liver, spleen, kidney) as well as from serum, CSF and urine. II. Description of the qualitative and quantitative analysis of individual lipid fractions (glycolipids, gangliosides, phospholipids, neutral lipids) by thin-layer chromatograhy and photodensitometry. III. Results of investigations performed on biopsy material, autopsy material, serum and urine in the following diseases: 1. Infantile, juvenile and adult Gaucher's disease: accumulation of glucocerebroside in liver and spleen. 2. Infantile and adult Niemann-Pick disease: accumulation of sphingomyelin in liver, spleen, kidney and lung. 3. Fabry's disease: increased urinary excretion of trihexosyl-ceramide and dihexosyl-ceramide. 4. Infantile and adult metachromatic leukodystrophy: accumulation of sulfatides in the central and peripheral nervous system and kidney, increased urinary excretion of sulfatides. 5. Austin's variant of metachromatic leukodystrophy: besides an increase of sulfatides in the white matter of brain accumulation of glycolipids in the cerebral cortex. 6. Tay-Sachs disease (GM2-gangliosidosis): cerebral accumulation of GM2-ganglioside and trihexosylceramide (enzyme variant B), additional visceral accumulation (liver, spleen, kidney) of tetrahexosyl-ceramide = globoside (enzyme variant 0). 7. Infantile generalized GM1-gangliosidosis: cerebral (and visceral) accumulation of GM1-ganglioside and tetrahexosyl-ceramide. 8. Late infantile GM1-gangliosidosis: Cerebral accumulation of GM1-ganlioside and tetrahexosylceramide. 9. GM3-gangliosidosis (lactosyl-ceramidosis): neuronal accumulation of lactosyl-ceramide, GM2-ganglioside and GM3-ganglioside. 10. Refsum's disease: demonstration of phytanic acid esters of cholesterol in serum.

Autopsy↗