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Biomedical subjects

G Hübner

Publications and source records attributed to G Hübner.

At least 145 records · Page 8Linked to original sources
PubMed1983

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.

Two newborn female siblings fell ill with apathy, failure of suckling and a generalized progressive muscular hypotonia. Death occured at the age of 7 weeks, obviously caused by impairment of respiratory musculature. Biochemical studies in one child revealed carnitine deficiency especially in skeletal muscle; hepatic encephalopathy was absent. Both children had a generalized hyperaminoaciduria, an unusual finding in primary carnitine deficiency. Besides fatty metamorphosis of the liver, bilateral hydroureters and tubular calcifications of both kidneys, morphological studies showed a generalized lipid storage myopathy which predominated in Type-I-fibres and was accentuated in the muscles of the neck. Enzymehistochemical electron microscopy in longterm frozen muscle demonstrated that cytochrome-c-oxidase activity was absent not only in myopathic but also in most of the morphological unchanged muscle fibres. Only some fibres and endothelial cells displayed normal activity of mitochondria. Biochemically no cytochrome aa3 (cytochrome-c-oxidase) could be found in skeletal muscle; cytochrome b was almost undetectable. --In newborns with fatal lipid storage myopathy and carnitine deficiency it seems necessary to look for additional defects in the respiratory chain. Enzyme histochemical electron microscopy is a sensitive method in identifying cytochrome-c-oxidase even after a 12 months period of storage.

Carnitine↗
PubMed1983

Mitochondrial cardiomyopathy with involvement of skeletal muscles.

In this report we describe an idiopathic hypertrophic cardiomyopathy in a 21 month old infant girl; who died shortly after a small surgical intervention for cardiovascular failure. Fine structural investigation disclosed an extreme increase of often abnormally structured and enlarged mitochondria and a great loss of myofibrils in the heart muscle cells. Furthermore, mitochondrial hyperplasia was observed focally in all skeletal muscles investigated. The pathogenesis of this mitochondriopathy in heart and skeletal muscle is unknown. It might be a consequence of a functional mitochondrial defect with compensatory hyperplasia of mitochondria. Differential diagnosis of this very rare infantile cardiomyopathy from the myopathies of storage diseases, typical hypertrophic cardiomyopathy and carnitine defiency is discussed, as is the distinction from the oncocytic or so-called histiocytic transformation of heart muscle cells. Methological hints for diagnostic procedures are given.

Autopsy↗
PubMed1983

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study.

In skeletal muscle biopsies of 8 patients with progressive external ophthalmoplegia combined light and fine structural cytochemical studies of cytochrome-c-oxidase revealed the absence of the enzyme in single fibres with or without accumulation of abnormal mitochondria. However, some fibres showed abnormal mitochondria without any deficiency of the enzyme. In one case with only slight mitochondrial proliferation the existence of the enzyme defect was the most remarkable finding. The occurrence of the enzyme defect obviously does not depend on concomitant structural alterations of the chondriom. The results are consistent with an acquired mitochondrial injury leading to a gradual loss of enzyme activity either earlier (with or without a minimal reactive mitochondrial proliferation) or later (after a phase of mitochondrial proliferation) in the course of the disease. Focal lack of cytochrome-c-oxidase activity is apparently a constant feature of the syndrome; it therefore may be not only of pathogenetic but also of diagnostic importance and in this connection cytochemical-fine-structural demonstration of cytochrome-c-oxidase is a valuable method. In contrast to the biochemical approach it allows not only the detection but also the exact anatomical localization of single fibre defects.

Biopsy↗
PubMed1983

Rhabdomyoma of the eyebrow region: a light- and electron microscopic study of a recurrent rhabdomyoma of fetal type.

A rhabdomyoma in the region of the right eyebrow in a 9-year-old boy is reported, which recurred 7 months after surgery. A local excision was performed, and the patient is free of disease 6 years later. Rhabdomyomas are exceedingly rare tumors. Hitherto only three unequivocal cases of orbital rhabdomyomas have been observed. A rhabdomyoma of the eyebrow region has to our knowledge not been described. Local excision is sufficient. In particular, a differential diagnosis of rhabdomyosarcoma has to be excluded.

Child↗
PubMed1983

A rapid procedure for the preparation of highly purified pyruvate decarboxylase from brewer's yeast.

A rapid purification procedure for pyruvate decarboxylase (E.C. 4.1.1.1.) from fresh cells of brewer's yeast (Saccharomyces carlsb.) is reported. The preparation of a crude enzyme (30-45 U/mg) by the use of fractionation steps with protamine sulfate, acetone, and ammonium sulfate takes about 6-7 h. A stable pyruvate decarboxylase (70-85 U/mg) was obtained from such preparations after purification on CM Sephadex C 50 after another 2-3 h. Stability and structural properties are compared for enzymes prepared from fresh and dried yeast.

Carboxy-Lyases↗
PubMed1982

[Quantitative determination of CO2-resorption from thermo-indifferent carbon dioxide mineral-water baths through human skin].

By means of mass spectrometric precision analysis of the natural variation of the 12C/13 relation in carbon dioxide of different provenience we contrive to pursue quantitatively the penetration of CO2 from the water of natural containing carbonic acid mineral baths (mineral springs Bad Elster) into the human body (skin--blood--expiratory air). First experiments confirm that in a bath of 21 or 20 minutes duration must be reckoned with a quantity of approximately equal to 24 ml . min-1 . m-2 of resorbed carbon dioxide and that the size of the basic metabolic rate of the bathing patient as well as the CO2 concentration of the bath water have an influence on the resorption process as well as on the measurement. On the other hand, the unspecific effect of the bath activating metabolism itself does not lead to a simulation of increased resorption rates. The borderline value for the penetration of CO2 through the skin seems to be 1.0 g . 1-1, i.e. within the region of the alkali reserve of the blood. The examinations are carried on.

Adult↗
PubMed1982

Extracardiac rhabdomyoma: report of different types with light microscopic and ultrastructural studies.

Five extracardiac rhabdomyomas were studied by light and electron microscopy: two of the adult type, two of the fetal type, and one of the female genital tract type. The three types can be distinguished histologically and ultrastructurally. Adult type rhabdomyomas are encapsulated and reveal histologically closely packed, large tumor cells with granular or vacuolated cytoplasm and only scant stroma. Electron microscopically, myofibrils are haphazardly arranged with rodlike Z-band material. Sometimes a sarcomeric arrangement of myofibrils is seen. The tumor cells are packed with mitochondria bearing lamellar inclusions. Fetal type rhabdomyomas contain a mixture of muscle cells in different stages of differentiations; the amount of stroma is increased. The myofilaments are usually disorganized and in only a few cells is rodlike Z-band material found. The cytoplasm reveals few mitochondria. In the rhabdomyoma of the female genital tract, the tumor cells are large and resemble more mature muscle fibers; the stroma is abundant and the myofilaments are usually arranged in an orderly fashion. Generally, the prognosis for rhabdomyomas is good. Metastases are not known. Two of the five rhabdomyomas studied recurred. One rhabdomyoma was found at autopsy. Embryonal rhabdomyosarcoma must be considered in differential diagnosis particularly for fetal type rhabdomyoma.

Abdominal Neoplasms↗
PubMed1982

[Mitochondrial cardiomyopathy with a high degree of heart muscle hypertrophy].

Because of cardiomyopathy with concomitant cardiac hypertrophy, a 21 month-old girl died 7 days following operative closure of a cleft palate. The cardiomyopathy was due to an excessive increase of enlarged and abnormally structured mitochondria. Similar mitochondrial change were found in the skeletal muscles (Mitochondrial Myopathy).

Cardiomyopathy, Hypertrophic↗
PubMed1982

[Serum cholesterol and liver deiodase activity in rats of different body composition after low or high fat diet. Effect of a feeding change in fat-rich to fat-poor diet and the reverse or of an iodine deficient diet].

Male Wistar rats with an average age of 28 weeks received diets high (HFD: 50% fat) or low (LFD: 3% fat) in fat content. Rats were restricted on iodine intake by feeding pure diets without iodine addition. The relative degree of iodine shortage of rats was estimated by 131I-uptake. PB131I and ETR. Serum cholesterol, whole body lipid content and liver deiodinase activity of LFD (control)- and HFD-rats were analyzed. A change of diet feeding from high to low fat content and vice versa took place to discriminate the effect of diet fat from body fat content of rats on serum cholesterol and deiodinase activity. HFD fed rats with high body fat content showed at iodine restriction the same serum cholesterol concentration as relative lean LFD-animals. Post feeding change from diet rich to poor on fat and vice versa at 4 weeks the obese animals have lost body fat only 10-20% at calorie restriction and exhibit higher serum cholesterol levels and equal liver deiodinase activity as lean, now fat rich fed control animals. Heavy HFD-rats fed on fat rich diet for 22 weeks have approximately two times higher liver lipid content as light LFD-animals. Because liver lipid content and deiodinase activity between light LFD- and heavy HFD-rats before and after change of diet feeding are equal, a relation between liver lipid content and enzyme activity is discussed.

Animals↗
PubMed1981

[Morphological and biochemical studies on glycogenosis type V (McArdle) (author's transl)].

This report deals with structural and biochemical studies of muscle biopsies from six patients with glycogenosis type V (McArdle). From a morphological point of view in four cases the typical findings of vacuolar myopathy with glycogen storage especially under the sarcolemma can be demonstrated. One biopsy shows only mild structural changes which without additional biochemical analysis could be overlooked. In one case signs of recovery phase after rhabdomyolysis predominate the storage myopathy. Biochemical studies in all cases show an elevated glycogen content (2.5-4.23%). Only the from a clinical point of view most expressive patient with recurrent episodes of rhabdomyolysis exhibits a glycogen storage over 5%. All cases additionally show an absence or highly reduction of phosphorylase activity. Apart from the most expressive clinical course the extent of morphological and biochemical findings is not clearly correlated. Therefore if clinical signs suggest the diagnosis of glycogenosis type V it appears necessary to perform additional biochemical examination of muscle biopsy independent from the degree of morphological anomalies.

Adolescent↗