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Biomedical subjects

H Pilz

Publications and source records attributed to H Pilz.

At least 19 recordsLinked to original sources
PubMed1979

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.

Fabry Disease↗
PubMed1979

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. Both patients had signs of cervical and lumbar radiculopathy and cervical myelopathy (tetraspastic syndrome). Vacuoles, acid phosphatase-positive granules, and metachromatic inclusions were found in peripheral lymphocytes; granulocytes and monocytes contained azurophilic hypergranulation. By electron microscopy, clear membrane-bound vacuoles were noted in lymphocytes (but not in neurtrophils), fibroblasts, Schwann cells, mural cells of the vasculature, and epidermal cells. Leukocytes, urine, and cultured skin fibroblasts revealed a deficiency of arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase). The 6-year-old daughter of one of the patients has an intermediate level of this enzyme. Fibroblasts exhibited a constant intracellular accumulation of 35S-labeled mucopolysaccharides. The urine of one of the brothers showed an abnormal mucopolysacchariduria; in both, the presence of urinary dermatan sulfate could be demonstrated. These findings conform to the mild B variant of Maroteaux-Lamy syndrome with high longevity.

Adult↗
PubMed1978

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. Both increased DPH metabolism or impaired absorption could be responsible for this effect. The concomittant increase of gammaGT could be interpreted as indirect evidence of hepatic enzyme induction with increased metabolism of DPH. It is important to note the possibility of such interaction so that better anticonvulsant control can be achieved.

Humans↗
PubMed1978

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. Demyelination of both optic nerves was not noted. Ultrastructurally, membranous lysosomal residual bodies were confined to ganglionic cells. We found lipofuscin material in pigment epithelial cells, but also within metachromatic leukodystrophy-specific residual bodies of ganglionic cells. The presence of lipofuscin represents the "wear-and-tear" phenomenon, possibly enhanced by the metachromatic leukodystrophy.

Acid Phosphatase↗
PubMed1978

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. No degeneration of any cell layer was noted. The ubiquitous accretion of lysosomal glycogen resembles the widespread distribution of lipopigments in canine neural ceroid lipofuscinosis, another lysosomal disorder.

Glycogen↗
PubMed1978

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. A significant difference between mean values for patients and controls could not be established. In both groups, single individuals exhibited definitely increased or reduced enzyme concentrations, leaving us, however, without an adequate explanation for these observations. Our studies indicate that determination of myeloperoxidase has no value in establishing the diagnosis of neuronal ceroid-lipofuscinoses.

Adolescent↗
PubMed1978

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 +/- 0.5 nmol/h . ml urine) than in (n=9) leukocytes (2.15 +/- 0.35 nmol/h . mg protein). Long term tests showed that the enzyme activities in urine can best be correlated to the 24-h-creatinine excretion. A distinct loss of enzyme activity was found in dialyzed urine starting at about the third day; this did not occur in undialyzed urine. The method also shows good reproducibility in micro-tests. It is therefore suitable for screening tests (urine of persons suffering from Niemann Pick disease) and for the prenatal diagnosis of sphingomyelinosis. For one out of two children with symptoms of sphingomyelinosis (hepatosplenomegaly, mental retardation, and neurological deterioration) the diagnosis was confirmed by morphological examination of tissues obtained by biopsy. In both cases leukocytes and urine revealed normal sphingomyelinase activity. These biochemical results in conjunction with the clinical and morphological picture were indicative of type C Niemann-Pick disease.

Adult↗
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

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

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. Advanced damage of myelin was only rarely seen, but initial segmental demyelination was a common finding. These early pathological changes in chronic MLD are thought to represent a subcellular metabolic insufficiency of Schwann cells in this disease.

Adolescent↗
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

Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle.

Sural nerve biopsy in a 44-year-old woman with adult metachromatic leukodystrophy (MLD) confirmed by deficient arylsulfatase-A activity, showed a reduction in the number of large and small myelinated axons, and sparse metachromatic material. Ultrastructurally, the latter consisted of various types of residual bodies including the tufaceous and prismatic forms typical of MLD. In the striated muscle, large amounts of regular lipofuscin but no MLD-characteristic inclusions were encountered. Inclusion-bearing mitochondria in the muscle appeared to be an incidental finding.

Adult↗