Genetic Diversity of in Germany and Global Relations of Its Genetic Background.

This is the first study to explore the genetic diversity and population structure of domestic water buffalo () in Germany and their potential relations to herds in other parts of Europe or worldwide. To this end, animals from different herds in Germany, Bulgaria, Romania, and Hungary were genotyped and compared to genotypes from other populations with worldwide distribution and open to the public. The pilot study analyzed population structure, phylogenetic tree, and inbreeding events in our samples.

[Primary and secondary prevention of cardiovascular events through hormone replacement therapy (HRT)].

A recently (2002) published, randomised, double blind placebo controlled trial of hormone replace ment therapy (HRT), the Women's Health Initiative (WHI), is not consistent with the decrease in cardiovascular disease under CEE/HPA seen in observational primary prevention studies like the Nurses' Health Study. Baseline characteristics of participants like age, body mass index, years since menopause and preexistent cardiovascular diseases may be responsible for the lack of benefit seen in this trial. Clinical outcome data of HRT from randomised trials in secondary prevention of cardiovasular diseases are limited.

Quitting cigarette smoking results in a fast improvement of in vivo oxidation injury (determined via plasma, serum and urinary isoprostane).

Isoprostanes (IP) have been identified as reliable markers of in vivo oxidation injury. Recently, in vascular tissue and blood as well as urine of cigarette smokers, increased IP values have been discovered. We examined 47 adults (26 males, 21 females; aged 30-66 years), admitted to a cardiovascular unit on an outpatient basis, with various risk factors but without any sign of manifestation of atherosclerosis.

Adult metachromatic leukodystrophy. III. Clinical course, final stages and first biochemical results.

Continuing the previously published clinical development of a case of adult metachromatic leukodystrophy (MLD), we now describe the terminal phase and death (at 46 years of age) of our patient. The final phase was characterized clinically by progression of generalized peripheral neuropathy, advanced extrapyramidal and pyramidal tract symptomatology, dementia and brainstem dysfunction. First biochemical results show a moderate relative increase (3- to 5-fold) of sulfatides in the frontal lobe white matter but not in the cortex.

Cerebrospinal fluid lipids in demyelinating disease. I. Sphingolipids.

The lipid composition of CSF, serum and lymphocytes from patients without demyelinating disease (controls) as well as from patients with acute and chronic MS is analyzed. Individual lipid fractions are isolated by TLC and their fatty acid composition determined. Lipid and fatty acid composition of normal CSF resembles the results found in lymphocytes and it is deduced that CSF lipids are derived mainly from lymphocytes rather than white matter (myelin) or serum.

Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B).

Two brothers, aged 40 and 38 years, suffered from dysplastic features, coarse facies, bone and skeletal abnormalities, deformities of spine, and joint impairments. Body heights were 168 and 164 cm, respectively. Enlargement of liver and spleen, cardiac insufficiency, marked corneal clouding, and hernias were absent.

Basic findings and current developments in sphingolipidoses.

Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.

Diagnostic significance of myeloperoxidase assay in neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome).

In 13 patients with morphologically established juvenile neuronal ceroid lipofuscinosis and 13 controls, the activity of leukocyte peroxidase (myeloperoxidase) was determined under various conditions: Measurement of water-soluble enzyme, the buffer-soluble enzyme, and the leukocyte homogenate; application of phosphate buffer (pH7.0) and borate buffer (pH7.6); employment of 9mM, 28mM, and 55mMp-phenylenediamine as hydrogen donor; and measurement of the specific enzyme extinction at 10, 60, and 180 seconds.

Interaction of nitrofurantoin with diphenylhydantoin.

Left-sided motor seizures in a patient with an operated brain tumor were controlled with 300 mg/d DPH. The introduction of antimicrobial therapy with nitrofurantoin caused a fall of serum DPH levels and the recurrence of seizures, at the same time serum gammaGT values were increased. These changes were reversible after nitrofurantoin treatment was terminated.

An improved and simple micro-method of sphingomyelinase assay in leukocytes and urine.

A simple one-vial-method was developed for the quantitative determination of sphingomyelinase activity in human leukocytes and urine, using [14C-methyl] sphingomyelin. The measured activities of healthy control persons show a higher scatter in (n=50) urine (1.2 +/- 0.

The ultrastructure of the retina in adult metachromatic leukodystrophy.

A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. Light microscopy of the retina showed strong acid phosphatase activity in both enlarged ganglionic cells and pigment epithelial cells.

Fatty acid composition of myelin lipids (cerebrosides, sulphatides and sphingomyelin) from normal human sural nerve, and changes in peripheral neuropathy.

Fatty acids of cerebrosides, sulphatides and sphingomyelin from normal human sural nerve, by comparison with brain, show a diminution of long-chained fatty acids as well as unsaturated fatty acids. The findings in brachial plexus are intermediate. In cases of peripheral neuropathy from various causes sphingomyelin fatty acid composition reveals pronounced loss of long-chained fatty acids, a phenomenon that is probably unspecific and may be associated with all forms of demyelination.

[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.

Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease).

The retina of a 9-month-old boy afflicted with biochemically proven type II glycogenosis contained abundant lysosomal glycogen. This was present in almost every cell type and occasionally associated with lipofuscin in choroidal macrophages. Lysosomal glycogen was absent from melanocytes and pigment epithelial cells.

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.

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.

Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy.

In a 13-year-old neurologically healthy boy from a family with adult-onset of metachromatic leukodystrophy (MLD) showing arylsulfatase A-deficiency in the adult, sural nerve biopsy probably was performed 2-3 decades before clinical manifestation of the disease could be expected. Ultrastructurally 4 basic types of inclusion bodies in Schwann cells could be demonstrated (pleo-morphic "zebra body"-like inclusions, double-lamellated inclusions, "tuff-stone"-like inclusions, granular osmiophilic inclusions). Additionally, endoplasmatic reticulum, mitochondria and lysosomes showed marked alterations.

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.