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Biomedical subjects

K Harzer

Publications and source records attributed to K Harzer.

At least 91 records · Page 5Linked to original sources
PubMed1983

[Detection of intake of hashish in biological material].

In order to detect hashish intake, urine, blood and serum were analysed for the main components of hashish, i.e., tetrahydrocannabinol (THC), cannabidiol, cannabinol and the decomposition product of THC, THC-carboxylic acid. After extraction and silylation, the samples were analysed by gas chromatography-mass spectrometry with multiple ion detection. The Emit-st-system is used as a pretest for urine.

Cannabidiol↗
PubMed1983

Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms.

Hexosaminidase (Hex) A, B, and C/S were electrophoretically separated from cultured amniotic fluid cells, fetal brain, and white blood cells. Photographs of cellulose acetate zymograms were evaluated by reflectometric scanning. The usefulness and limitations of this rapid method were shown. Hex A was completely absent in the amniotic fluid cells of one out of three pregnancies at risk for Tay-Sachs disease, but Hex C/S was present in this case. The prenatal diagnosis of Tay-Sachs disease was made, and confirmed with the fetal material after abortion. Hex C/S was distinguishable from a residual or "heterozygous" Hex A activity. In the two other risk pregnancies, reflectometric Hex A activities were found to be 50 and 34% of control; the heterozygous stage was presumed for the fetuses.

Amniotic Fluid↗
PubMed1983

Sulfatides in prenatal metachromatic leukodystrophy.

In one 21-week-old fetus with prenatally diagnosed metachromatic leukodystrophy, galactolipid contents were determined in the forebrain cortex, cerebellum, brainstem, spinal cord, and kidney and compared to an appropriate control. Spinal cord and kidney showed the highest sulfatide accumulation as a consequence of deficient cerebroside sulfatase activity. No increase, but a measurable amount of sulfatide, was detected in the forebrain. The prenatal neural sulfatides contained a high proportion of the hydroxy fatty acid component. The galactosyl ceramides were not reduced in the early stage of the demyelinating disease.

Central Nervous System↗
PubMed1982

Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease .

In 24 pregnancies at risk for Krabbe disease (KD) monitored by amniocentesis in the 15th to 18th week, the amniocytic galactosyl ceramide beta-galactosidase activity was either lower than 11% (n = 12) or higher than 28% (n = 12) of the mean control amniocytic activity (n = 27). For the low activity group, prenatal KD diagnoses were made and the fetuses aborted. In the tissue material available from 11 of them the diagnoses were confirmed enzymatically. Three fetuses were studied electron microscopically and typical tubulo-spicular inclusions were found in the 'pre-globoid cells'. In the children already born from the group with more than 28% of amniocytic lipid beta-galactosidase activity no signs of KD were detectable. In two of the families at risk of KD, four pregnancies followed the monitored ones, but, for obscure reasons, it came to our knowledge only after the birth of these four children; enzymic studies revealed one KD patient and three unaffected children (two of them possibly heterozygous). When comparing the total sample of 12 + 1 KD cases and 12 + 3 unaffected with the theoretical 7:31 ratio for affected/unaffected offspring, a significant prevalence of affected (chi 2 = 6.86; alpha = 0.01) was found.

Amnion↗
PubMed1982

[Ultrastructural findings in 9 fetuses following prenatal diagnosis of neurolipidoses].

After positive prenatal enzymic diagnosis of different neurolipidoses therapeutic abortion was carried out in the 19th to 25th week of pregnancy. Ten delivered fetuses were studied ultrastructurally and in nine of them positive results were obtained, although in some cases one had to accept relatively poor structural conservation of fetal tissues. The ultrastructure of the quantitatively small lipid storage effects qualitatively resembled that of the postnatal stages with some exceptions of localization. In fetal GM2-gangliosidosis type 2 (variant 0) concentric membranous cytoplasmic bodies were detected in the brain cortex. In Krabbe's disease the myelinated regions of the spinal cord showed scattered storage (globoid) cells, sometimes closely related to blood vessels, which contained isolated or stranded tubular or spicular inclusions. In GM1-gangliosidosis type 1 neurons of the brain stem showed lamellar inclusions structured as zebra bodies, and splenic histiocytes exhibited numerous almost clear cytoplasmic vacuoles. In fetal metachromatic leukodystrophy the CNS including myelinated regions was essentially free of morphologic lipid storage effects. However, many kidney tubules cells contained great numbers of irregular or roughly parallel stacks of membranes. These inclusions may be equivalent to "tuffstone" bodies. In one fetus the bodies were restricted to tubular cells bearing microvilli. Fluorescent microscopy of arcus of the kidney tubule showed excess amounts of metachromatic material. Less of this material was demonstrable in the envelope layer of hepatic Glisson triangles. In the fetus with Niemann-Pick disease type C large neurons of the basal ganglia and the spinal cord were filled with membranous inclusions that were similar to myelin-shaped bodies rather than to solid membraneous bodies. The 19-weeks-old fetus with enzymically proven Gaucher disease was free of ultrastructural lipid storage effects. Most but not all of the morphological findings in the fetuses with neurolipidoses were in accordance with published results.

Adult↗
PubMed1981

[Prenatal diagnosis of Gaucher's disease (author's transl)].

Gaucher's disease type I was diagnosed prenatally in one case. Using radiomarked natural lipid substrate the enzyme defect was demonstrated in amniotic cells cultured after amniocentesis in the 16th week of pregnancy. Rest activity of cerebroside beta-glucosidase was around 6% of control activity. After termination of pregnancy in the 19th week the diagnosis was confirmed in the fetus by demonstration of lack of enzyme activity in fetal fibroblasts and liver tissue. Enzyme levels of cerebroside beta-glucosidase in blood leucocytes of the couple who decided on termination of the pathological pregnancy were found compatible with but no proving the heterozygote state of Gaucher's disease. In the future the enzyme defect of affected probands should be determined early and as precisely as possible.

Abortion, Induced↗
PubMed1981

Genetic variation of hexosaminidase A and arylsulfatase A activity. Correlation study in amnio-maternal pairs of cultured cells.

Pairs of cultured amniotic cells and maternal fibroblasts ("feto-maternal pairs") were studied for hexosaminidase A (HXA) and arylsulfatase A (ASA) activity. These lysosomal enzyme activities are genetically deficient in Tay-Sachs disease and metachromatic leukodystrophy, respectively. After HXA was standardized by relating it to hexosaminidase B (HXB) activity, a feto-maternal correlation coefficient of r = 0.51 (n = 32; 95% confidence limits 0.197-0.73) was found for the HXA/HXB activity quotients. This coefficient was near the 0.5 value theoretically valid for mother-child pairs, suggesting that the studied activities reflect essentially the genetic variability. The studies of ASA revealed a high variability of individual activities, which was reduced in two steps: (1) The ASA activity was related to the mean of two lysosomal reference enzyme activities, total hexosaminidase and acid beta-galactosidase. (2) Since the square root of ASA activity was found to follow more closely the variation of the reference activities, the square root of ASA activity over the mean reference activity was taken as a more standardized measure of ASA activity, and the quotient was treated statistically. Positive feto-maternal correlation of standardized ASA activity was obtained after the elimination of three pairs with extreme values. A correlation coefficient of 4 = 0.42 (n - 26; 95% confidence limits 0.039-0.695) resulted. The implications of these correlation studies for the problem of heterozygote identification by quantitative enzyme assays in families deficient in HXA and ASA activity were considered.

Adult↗
PubMed1981

[Niemann-Pick disease type C (subacute neurovisceral lipidosis). Problems of altered sphingomyelinase activity in the brain (author's transl)].

One fetus (20 weeks old) and two postnatal cases with Niemann-Pick disease type C (a group of unclear neurovisceral lipidoses characterized by foam cells in the bone marrow and sometimes supranuclear ophthalmoplegia) were studied with respect to the pH-dependency of brain sphingomyelinase activity. A distinct reduction of activity in the pH 5 range of the fetus was contrary to an almost normal pH profile in the postnatal cases including the sibling of the fetus. The sphingomyelinase anomaly does not seem to reflect the genetic defect, since it is paralleled by a similar anomaly of glucocerebrosidase activity. A pathologic subcellular localization of more than one lipid hydrolasis is discussed.

Axons↗
PubMed1981

[Infantile and late-onset type of globoid cell leucodystrophy in one family (author's transl)].

Globoid cells leucodystrophy was diagnosed by specific enzyme assays in two siblings of one family. A male infant presented the typical symptoms of hyperirritability and progressive loss of psychomotor functions beginning at the age of 4 months. The progression of the disease lead to decerebration and death at 19 months of age. The elder sister had a normal development until her third year, when she developed exclusively symptoms of peripheral neuropathy. Up to the moment there are no symptoms of cortical function loss.

Age Factors↗
PubMed1980

Enzymic diagnosis in 27 cases with Gaucher's disease.

A method is described for the assay of glucosyl ceramide beta-glucosidase (glucocerebrosidase) in white blood cells, cultured fibroblasts and amniotic cells, and in tissue homogenates. Glucosyl ceramide extracted from Gaucher spleen and labelled by catalytically adding tritium to the ceramide double bonds was used as the substrate in the presence of pure sodium cholate as detergent. The specificity of the test was established by demonstrating the enzyme deficiency in 25 cases with Gaucher's disease type 1 and 2. In two prenatal cases quantitative liver lipid analysis showed that glucosyl ceramide storage starts in Gaucher fetuses when they are about 20 weeks old.

Clinical Enzyme Tests↗
PubMed1980

Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B.

A 2 year-old non-Jewish boy had muscle hypertonia, a black cherry spot, dementia, and seizures. His skin biopsy showed membranous cytoplasmic bodies in axonal terminals and zebra body-like inclusions in Schwann cells. Biochemically, a deficiency of Hex A and two separate Hex B peaks indicated a type 1 (B variant, Tay Sachs) like subvariant of GM2-gangliosidosis.

Axons↗