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Biomedical subjects

D Pongratz

Publications and source records attributed to D Pongratz.

At least 145 records · Page 8Linked to original sources
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↗
PubMed1981

[Reducing body myopathy--ultrastructure and classification (author's transl)].

Reducing body myopathy is a very rare progressive muscular disease. Apart from a non-specific circumscribed muscle fiber degeneration it displays muscle fiber inclusions which have reducing properties as a typical morphological feature. The nosological classification of the disease is not settled. A case in a 15 years old girl is reported. She suffered from a progressive muscular weakness and atrophy and in a muscle biopsy regressive changes were obvious. Furthermore, multiple eosinophilic muscle fiber inclusions were also observed, which exhibited reducing properties. They consist of electron dense granules with a diameter of 12--16 nm. Since a sister of the patient has suffered for many years from a clinically and morphologically similar muscle disease, reducing body myopathy apparently belongs to the group of congenital myopathies with structural abnormalities. Muscle fiber inclusions with reducing properties also occur in another myopathy, in which they structural and histochemical differ widely from those found in reducing body myopathy. The reducing body myopathy is better named after its typical morphological property, the granular inclusions. It is proposed to name it "granular body myopathy".

Adolescent↗
PubMed1980

[Ultrastructural and clinical studies in "inclusion body myositis" (author's transl)].

A non-hereditary slowly progressive neuromuscular disease occuring in a 39-year-old male, consisting of an asymmetrical wasting of the muscles of the shanks, is reported. Neither clinical nor electromyographic criteria can safely distinguish whether a primary neurogenic or a primary myogenic process is causally involved. The initial rise in serum CPK-activity indicates a myopathic origin. The lightmicroscopic aspect of the muscle-biopsy shows a muscular atrophy which resembles a primary neurogenic pattern with grouped clusters of atrophic fibers as well as a myopathic or rather myositic tissue-pattern with randomly scattered atrophic fibers. In addition there are numerous vacuoles which are equivalent to concentric lamellae of dense material in electronmicroscopy. Numerous fibrillary inclusions as well in the cytoplasm as in the cell-nucleus correspond to typical alterations in the so-called "inclusion body myositis". The disease is critically discussed as a nosological entity among neuromuscular disorders.

Adult↗
PubMed1980

[Value of myometric findings in the morphological differential diagnosis of neuromuscular disorders (author's transl)].

This report deals with morphometric investigations of muscle biopsies using a semiautomatic manual analysis system. Examples for differential diagnostic value of metric results are described: 1) Different distribution curves of muscle fibers are helpful in differentiating between two important groups of muscle diseases, chronic polymyositis and muscular dystrophy. 2) Some groups of disorders (e.g. interstitial myositis, neurogenic atrophy) may be subtyped by metric data. 3) Several diseases (e.g. myotonic dystrophy) are characterized by selective atrophy of one fiber type only in distinct muscle groups.

Biopsy↗
PubMed1979

[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↗
PubMed1979

[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↗
PubMed1979

[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↗
PubMed1979

[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↗
PubMed1976

[Congenital centronuclear myopathy. Two morphological variants in one family (author's transl)].

This report deals with a family in which the mother and her two daughters suffer from a congenital, slowly progressive neuromuscular disease. Histological, histochemical and ultrastructural observations of the mother's muscle biopsy reveal the characteristics of the centronuclear myopathy. In this case central nuclei and pericentronuclear abnormalities of muscle fibers are found in almost all fibers. Biopsies obtained of the two daughters show alterations especially of type I-fibers, which often are smaller than normal. The presence of these two forms of centronuclear myopathy in one family indicates that these may be only different morphological types of states of one illness. Additionally, other structural findings (rod bodies, core like regions) emphasize the similarities with other congenital slowly progressive myopathies (nemaline myopathy, central core disease).

Adenosine Triphosphatases↗
PubMed1976

An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.

Report of a 20 months old child showing a mild form of glycogenosis type II (POMPE, 1932) with preferential involvement of skeletal muscle. First muscle biopsy reveals, on light microscopic examination, only a mild vacuolar myopathy. By PAS-staining pathologic glycogen storage can be shown. Glycogenosis type II is proved by ultrastructural and biochemical studies of muscle tissue obtained by a second biopsy. Consequently in all cases of a floppy infant syndrome with myopathic features it is necessary to obtain tissue for biochemical and ultrastructural analysis and to carry out these techniques if by light microscopic examination a vacuolar myopathy with increase of glycogen is found.

Adenosine Triphosphatases↗