[Wolman's disease (Wolman's syndrome)].
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Adrenal Glands↗
Biomedical subjects
G Hübner
Publications and source records attributed to G Hübner.
[Mucopolysaccharidosis I-S (Scheie's disease) (author's transl)].
Mucopolysaccharidosis I-S in two encygotic twin sisters. The disease is characterised by opacification of the cornea, hepatospenomegaly, carpal tunnel syndrome, flexion contractures of the fingers and toes, valvar heart disease, normal intelligence and essentially normal behaviour. The biochemical defect consists of deficiency of the lysosomal hydrolase alpha-L-iduronidase. Urinary dermatan-sulphate excretion is raised. The muscles are also involved:the electron microscopic revelas interstitial storage of glycosaminoglycan-like substance. There is no specific treatment.
Adult↗
[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)].
This report deals with two sisters who died with eight, respectively ten weeks under the signs of respiratory failure caused by progressive muscular weakness. Only an elevated cerebrospinal fluid protein was suspicious of an additional disturbance of the central nervous system. Muscle biopsy revealed a vacuolar myopathy. Histochemistry showed lipid storage, increased mitochondrial enzyme activity, and to a lower degree, glycogen accumulation especially in type I muscle fibers. Electron microscopy confirmed elevated lipid content in combination with increased, enlarged and abnormally structured mitochondria. Biochemical studies on muscle biopsy, in comparison with normal children, showed a significant decrease of carnitine content and an increased activity of carnitine palmityltransferase. Retrospectively from a clinical point of view this disease is suggestive of "systemic carnitine deficiency", even if some symptoms (hepatomegaly, cardiomyopathy) were not present and serum- and liver carnitine was not measured because the children died before the diagnosis of muscle carnitine deficiency was confirmed. The clinical picture of these two fatal cases is compared with another observation of muscle caritine deficiency. This child shows only a mild course of muscle disorder, but very similar morphological changes in muscle biopsy. Biochemically, there was a clear decrease in muscular carnitine, while the serum levels were in the normal range. The activity of muscular carnitine palmityltransferase was also normal.
Biopsy↗
[Muscle biopsy in progressive external ophthalmoplegia (author's transl)].
In skeletal muscle biopsies of nine patients with progressive external ophthalmoplegia of unknown origin "ragged red" fibers can be demonstrated. The occurrence of these abnormal fibers does not correlate with clinical muscle weakness, or additional signs of the ophthalmoplegia plus syndrome. Rarely, "ragged red" fibers are seen in other neuromuscular disorders but usually these are associated with various structural alterations. Numerous "ragged red" fibers in an otherwise normal muscle provide an essential criterion in establishing the diagnosis of the ophthalmoplegia plus syndrome.
Adult↗
[Behavior of the erythrocyte glucose-6-phosphate dehydrogenase in patients with functional thyroid disorders and in hyperthyroxinemic rats].
This paper deals with the activity of glucose-6-phosphate dehydrogenase in patients with hyper- and hypothyroidism as well as in hyperthyroxinaemic rats. The activity of glucose-6-phosphate dehydrogenase is enhanced in red blood cells of hyperthyreotic patients and hyperthyroxinaemic animals. The activity will be decreased to normal range in patients by administration of antithyreotic drugs, such as thiamazole. Patients with hypothyroidism exhibit decreased enzymatic activity. It is suggested that thyroid hormones stimulate the HMP-shunt in red blood cells as a defence mechanism against additional oxidative stress.
Animals↗
[Experimental study on tissue and cell reactions after implantation of xenogeneic collagen sponges (author's transl)].
164 inbred Wistar rats received subcutaneous and intraperitoneal implants of xenogeneic collagen sponges and were examined by light- and electron microscopy as well as immunohistologically, to establish tissue and cell reactions and the time of collagen reabsorption. 4 to 5 weeks after implantation the xenogeneic collagen sponge was completely absorbed. All the inflammatory and reparative reactions were non-specific. Granulation tissue appeared soon (3 days after implantation) with new synthesis of fine collagen fibrils, mainly of type III, followed by type I collagen fibers. Myofibroblasts, with intracellular evidence of myosin and collagen (Type I and III) were sporadically present in the granulation tissue after day 5 and regularly after day 10. Small scar granulomas without xenogenic collagen were detectable even 4 to 6 months after collagen implantation. Reabsorption and regression of collagen granulomas occurred faster after xenogeneic collagen implantation than after using surgical cat sutures. From the morphological point of view, there is no indication of specific sensitization against xenogeneic collagen or of a specific immunologic process.
Animals↗
[Diagnostic value of muscle biopsy findings in myotonic dystrophy (Curschmann-Steinert) (author's transl)].
By histological, enzyme histochemical, histometrical and ultrastructural studies of 15 muscle biopsies from patients with myotonic dystrophy the typical morphological picture of a myopathy with multiple internal nuclei, sarcoplasmic masses and ring fibers can be shown only in 7 cases with very severe or prolonged clinical course. There is fiber degeneration under the sarcolemma which corresponds to findings in myopathies caused by hypothyroidism. Type-I-fiber-atrophy, which is thought to be an early morphological sign of the disease. can be demonstrated in our material only in proximal muscle groups, especially biceps muscle, whereas tibialis anterior muscle shows a slight focal atrophy of both mean fiber types, which is not helpful for differential diagnosis. Therefore in early cases of myotonic dystrophy which are not clarified by clinical and electromyographic investigation, a biopsy of biceps muscle should be done. Advanced cases as a rule can be confirmed by EMG without muscle biopsy. The morphological differential diagnosis of type-I-fiber-atrophy and the similarities of fiber degeneration under the sarcolemma in myotonic dystrophy as well as in myopathy caused by hypothyroidism are discussed.
Biopsy↗
Malignant tumor of humerus with features of "adamantinoma" and Ewing's sarcoma.
This female patient was born in 1935 and died in 1976 with a malignant bone tumor involving the proximal humerus following multiple local recurrences, axillary lymph node metastases, and pulmonary metastases. Histologically, over the course of time, there was an increase in features of an atypical Ewing's sarcoma, at the expense of findings of a typical, extra-cranial so-called adamantinoma. In contrast to another report, our case showed neither epithelial nor endothelial features on fine structural examination, but rather primitive mesenchymal cells, as is described for Ewing's sarcomas.
Adult↗
[Small angle X-ray scattering studies on the structure and symmetry of yeast pyruvate decarboxylase in solution].
The holo-enzyme of the pyruvate decarboxylase EC 4.1.1.1 isolated from brewer's yeast was studied by small-angle X-ray scattering. The point-group symmetry 222 deduced from electron microscopic investigations was confirmed for molecules in solution. The best approximation of the overall shape of the enzyme was reached by an homogeneous triaxial ellipsoid, with the half-axes of a = 2.47 nm, b = 5.08 nm and c = 8.0 nm. The ellipsoid is halved vertical to the a-axis, and both halves are turned from each other by about 30 degrees. As an explanation of the existence of four binding sites for Mg2+ and thiamine pyrophosphate on the dimeric molecule the hypothesis of a gene duplication is discussed.
Binding Sites↗
[Bioptic diagnosis of Crohn's disease and ulcerative colitis (author's transl)].
A diagnostic flow diagramm is presented which allows to differentiate Crohn's disease from ulcerative colitis. Colorectal biopsies do allow to make the diagnosis of Crohn's disease even if granulomas are absent. Intact goblet cells in the presence of neutrophil infiltration of the mucosa as well as discontinuous and disproportionate inflammatory changes are the most useful diagnostic criteria in the histology of Crohn's disease. Assessment of these histological abnormalities in carefully orientated and sectioned biopsy specimens is possible in most cases. This diagnostic scheme has been tested by four pathologists independently.
Colitis, Ulcerative↗
Hydrophobic binding of phenoxyacetic and phenylacetic acids to horseradish peroxidase and human serum albumin: structure-activity relationships.
Studies of protein binding in homologous series of drugs are of great interest for drug research. Apparent binding constants of phenoxyacetic and phenylacetic acids to horseradish peroxidase and to human serum albumin are evaluated by NMR studies and an optical method. These constants are good parameters to describe hydrophobic interactions, and the results are in a good agreement with our protein binding model described previously.
Chemical Phenomena↗
[Studies of the consecutive hydrolysis of dipeptidyl-4-(phenylazo)-phenylamides by an aminopeptidase from Brassica napus].
The relatively alanine-specific amino peptidase from Brassica napus hydrolyzes dipeptidyl-4-(phenylazo)-phenylamide according to a consecutive mechanism. Enzyme-kinetic studies of dipeptidyl-4-(phenylazo)-phenylamides carried out by means of spectrometrical procedures of measurement are only possible when the increase in the concentration of the fission product p-aminoazobenzene is recorded. For assessing the kinetic parameters of the intermediary steps of the hydrolysis of dipeptidyl-4-(phenylazo)-phenylamides a function is derived describing the dependence of the concentration of fission products of p-aminoazobenzene on reaction time. The satisfactory correspondence of the kinetic parameters calculated for the intermediary-originating substrate L-ala-4-(phenylazo)-phenylamide as substrate demonstrates the applicability of the procedure described in the present paper.
Aminopeptidases↗
[Hydroxyethyl starch (HAS 450/0.7) in human plasma and liver. Course of concentration and histological changes].
In 12 patients 1,000 ml hydroxyethyl starch (Mw 450,000, degree of substitution 0.7) was infused intravenously. A liver biopsy was performed in 10 patients undergoing abdominal surgery 30 minutes to 28 days after the infusion. The liver tissue was investigated by light and electron microscopy. The plasma level of hydroxyethyl starch decreased to 4.8% of the initial concentration 28 days after the infusion (Anthron method). Single intracellular vacuoles were shown by electron microscopy 30 minutes after the end of infusion in Kupffer's cells only. However, 6 to 28 days after infusion intracellular vacuoles were demonstrated in parenchymal liver cells, Kupffer's cells, interstitial histiocytes and to a lesser degree in the cells of the small bile ducts. The pathogenic importance of the portracted elimination from the plasma and the liver storage is unknown.
Adult↗
The mechanism of substrate activation of pyruvate decarboxylase: a first approach.
The sigmoidal shape of the curve for v[S], characteristic of pyruvate decarboxylase, indicates that the catalytic activity of this enzyme is regulated by the substrate. The enzyme, which is inactive in the absence of its substrate, is activated not only by 2-oxo acids but also by 2-oxo acid amides, which cannot act as a substrate of the enzyme. Whilst the dissociation constant of the enzyme-activator complex depends on the electrophilic nature of the carbonyl group, the catalytic activity reached at saturation concentrations of the activator species is independent of the structure of the activator molecules. The mechanism of activation which proceeds via two reversible steps could be evaluated exactly by stopped-flow techniques. The kinetic parameters of the activation and deactivation reaction were estimated and the validity of the equations derived which describe the activation kinetics could be proved by comparing them with the measured data. Using glyoxylic acid as an irreversibly binding active-site marker, it could be shown that addition of the substrate to the enzyme-bound thiamin diphosphate is the step of the catalytic mechanism whose rate is controlled by the substrate (activator) molecule.
Carboxy-Lyases↗
[On the morphology of the hyalin cartilage under immobilization and remobilization (author's transl)].
Structural degenerative changes in the hyaline cartilage of joints induced by immobilization are well known. To find out whether these changes are reversible, the right knee-joint from rabbits was immobilized by extra-articular fixation for 2 or 4 weeks, respectively. In 8 animals the joints were then remobilized for 6 months. Cartilage of the joints was investigated by light microscopy, scanning- and transmission electron microscopy. Already after 2 weeks of immobilization changes in the superficial layer of the cartilage were obvious; after 4 weeks all components of the cartilage tissue were involved in a degenerative process. These changes progressed in the 6-month period in which the joint was remobilized. At the end of the experiment the morphology of the cartilage tissue was comparable to the structural aspect of a typical arthrosis. It is concluded that an external immobilization of a joint which comprises also a pressure on the surface of the cartilage cannot be considered as a harmless procedure. It is recommended to be very cautious with the indication of a therapeutical immobilization of a joint and, if necessary, to use it as short as possible.
Animals↗
[Solitary plasmacytoma of the scapula and clavicle].
A 59 year old female patient with a large solitary medullary plasmocytoma of two years duration of the right scapula and clavicle is presented. The patient refused operation and received telecobalt radiation therapy. The palpable swelling and pain disappeared. Bone marrow puncture, blood and urine analyses were quite normal. An individualized therapeutic procedure is recommended for such cases.
Bone Neoplasms↗
Two-center mechanism for the oxidative decarboxylation of pyruvate by the pyruvate decarboxylating component of the pyruvate dehydrogenase complex of pigeon breast muscle.
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Animals↗
[Splenic cysts: clinical aspects, diagnosis and differential diagnosis].
328 patients were splenectomized from 1967 until 1976. In this period only 4 splenic cysts were observed and operated. Three cysts were posttraumatic and one was of lymphatic origin. The case history and diagnostic management is reported with special reference to preoperative angiography and differential diagnosis. There were no postoperative complications observed.
Adult↗