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Biomedical subjects

H Reichmann

Publications and source records attributed to H Reichmann.

At least 163 records · Page 9Linked to original sources
PubMed1992

Enzyme activity analyses along ragged-red and normal single muscle fibres.

Mitochondrial myopathies are morphologically characterized by ragged-red fibres (RRF). Serial cross-section revealed that the ragged-red appearance was only focal. This is in agreement with a partial cytochrome c oxidase (COX) deficiency in chronic progressive external ophthalmoplegia (CPEO). Since most of these patients show deletions of the mitochondrial genome single fibre analyses were performed determining COX and succinate dehydrogenase (SDH) in serial muscle sections from two patients with CPEO. High SDH activity was demonstrated in RRF; in contrast COX activity was lower in RRF in a patient, possibly representing a focal assembly of mitochondria with deletions in their genomes. The variation of enzyme activities along the muscle fibre was especially high in RRF. This study presents the first quantitative evidence that enzyme activities vary considerably along fibres in muscle from patients with a mitochondrial myopathy.

Adult↗
PubMed1992

Neurological long-term follow-up in left atrial myxoma: are late complications frequent or rare?

Neurological manifestations were analysed in 13 patients with left atrial myxoma confirmed by histological study. In this group, 6 patients had neurological complaints at initial presentation, 5 had cardiac symptoms, and 4 patients presented with signs of systemic disease. CT was performed in 10 and MRI in 7 patients. There were signs of ischaemic or haemorrhagic infarction (6 of 12) and one lesion suggestive of myxoma metastasis; other findings mainly comprised non-specific white matter lesions revealed by MRI. Neurological follow-up 0.5-8 years after tumour resection revealed no delayed neurological complications, follow-up CT and MRI findings were not suggestive of lesions acquired after operation. It is suggested that this rare condition of cardiac myxoma should be suspected in young patients with CNS symptoms or signs lacking cerebrovascular or cardiovascular risk factors and should be included in the differential diagnosis of vasculitis. With timely diagnosis and resection of the cardiac tumour the long-term prognosis can be considered improved.

Adult↗
PubMed1992

A mild juvenile variant of type IV glycogenosis.

The mild juvenile form of type IV glycogenosis, confirmed by a profound deficiency of the brancher enzyme in tissue specimens is reported from three Turkish male siblings who, foremost, suffered from chronic progressive myopathy. Muscle fibers contained polyglucosan inclusions of typical fine structure i.e. a mixture of granular and filamentous glycogen. They reacted strongly for myophosphorylase, but were resistant to diastase. These inclusions were ubiquitinated and reacted with antibody KM-279 which previously has been shown to bind to Lafora bodies, corpora amylacea and polyglucosan material in hepatic and cardiac cells of type IV glycogenosis as well as polyglucosan body myopathy without brancher enzyme deficiency. Our findings confirm that although rate, a mild form of type IV glycogenosis is marked by polyglucosan inclusion not only in myofibers, but also in smooth muscle and sweat gland epithelial cells. This further implies that when polyglucosan inclusions are observed within myofibers it is mandatory to examine the muscle tissue for brancher enzyme activity since the brancher enzyme activities in circulating erythrocytes and leucocytes were normal in all three affected siblings and their parents. Therefore, it can be concluded that the patients reported on here represent a variant form of type IV glycogenosis, in which the defect is limited to muscle tissue. This further indicates that there are several different types of type IV glycogenosis with variable clinical manifestations.

Child↗
PubMed1991

Quantitative succinate dehydrogenase analysis in normal and ragged-red muscle fibers.

Single fiber analyses were performed in normal and diseased muscle by means of a high-resolution microphotometric method. We investigated the activity distribution of a mitochondrial marker enzyme, succinate dehydrogenase, within single muscle fibers. We differentiated between the central and the subsarcolemmal region. Both normal muscle fibers, and ragged-red fibers from patients with a mitochondrial myopathy showed significantly higher succinate dehydrogenase activities in the subsarcolemmal region. Since the fibers' supply of oxygen is accomplished by diffusion from capillaries located close to the sarcoplasmic membrane our results are of functional importance.

Cell Compartmentation↗
PubMed1991

Stroke-like episodes in familial mitochondrial encephalomyopathy: clinical and biochemical aspects.

Acute episodes of focal neurological dysfunction are a well-recognized complication of the mitochondrial encephalomyopathies. Because of rapid remission, biochemical tests and other diagnostic procedures are mostly performed after the acute phase. We report the case of a patient suffering from mitochondrial disease manifesting primarily with seizures, progressive deafness and dementia, who experienced multiple stroke-like episodes. Other members of the family with evidence of mitochondrial dysfunction are presented briefly. EEG and biochemical findings in the acute stage are correlated with clinical symptoms, showing characteristics distinct from the chronic illness. The possible involvement of dietary factors in the provocation of stroke-like episodes is discussed and regulation of glucose intake suggested as a strategy in the prevention of stroke-like episodes.

Adult↗
PubMed1991

Enzyme activities of fatty acid oxidation and the respiratory chain in chronically stimulated fast-twitch muscle of the rabbit.

Fast-twitch tibialis anterior muscle of the rabbit was subjected to chronic low-frequency (10 Hz, 10 h/day) stimulation for different time periods up to 28 days. Total cellular activities of carnitine:palmitoyl-CoA transferase, crotonase, 3-hydroxyacyl-CoA dehydrogenase, 3-keto-acyl-CoA thiolase, citrate synthase, NADH:cytochrome c oxidoreductase, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase were measured in contralateral and stimulated muscles at various times. With the exception of crotonase, which increased only 1.6-fold after 28 days of stimulation, the other enzymes increased in parallel displaying 3-fold elevated absolute activities. These results, by supporting and extending our previous findings, indicate that the expression of the enzymes of the main metabolic systems of aerobic substrate oxidation, i.e. the citric acid cycle, the fatty acid oxidation and the respiratory chain, is regulated in a coordinate manner.

Animals↗
PubMed1991

Myopathy in Williams-Beuren syndrome.

Williams-Beuren syndrome (WBS) is a disorder of unknown aetiology. The classical features of the syndrome include a typical ('elfin') facies, mental retardation and heart defects. Myopathy has not so far been part of the spectrum of WBS. We studied six patients with WBS aged 3-25 years, five of whom showed clinical and morphological evidence of myopathy. The clinical manifestations of myopathy included hypotonia in infancy, walking delay, joint contractures, scoliosis, and increased exhaustion on exertion. These symptoms were present in variable expression but part of a typical postural pattern. Examination of muscle biopsies showed lipid storage in four patients and increased variability of fibre size in three. In one patient a muscle biopsy gave normal results. Biochemical investigation in four patients with morphological evidence of lipid storage in muscle revealed muscle carnitine deficiency in three. In addition, enzyme activities of fatty acid beta-oxidation were low in one of two specimens tested. It is concluded that a clinically relevant myopathy is part of the multi-system manifestation of WBS and a clinical trial of carnitine supplementation is justified.

Adult↗
PubMed1991

Coordinate enzymatic activity of beta-oxidation and purine nucleotide cycle in a diversity of muscle and other organs of rat.

1. Most mammalian muscles consist of a mixture of different muscle fiber types. 2. We analyzed various muscles with different percentages of slow and fast fibers in addition to other organs of rat for enzyme activities of beta-oxidation and the purine nucleotide cycle (PNC). 3. According to the content of slow-twitch fibers all enzymes of beta-oxidation were high in activity whereas enzymes of the purine nucleotide cycle were low. 4. Amongst all enzymes of beta-oxidation, crotonase showed the highest activity. 5. In heart muscle, enzyme activities of beta-oxidation were even higher than in m. soleus which consists almost exclusively of slow-twitch type I fibers. 6. Measurements of all three enzymes involved in the purine nucleotide cycle revealed high activities in muscles predominantly composed of fast-twitch fibers. 7. It was always adenylate deaminase which revealed the highest activity. 8. Heart muscle showed low activities for enzymes of PNC.

AMP Deaminase↗
PubMed1991

Adult onset lipid storage in gastric mucosa and skeletal muscle fibers associated with gastric pain, progressive muscle weakness and partial deficiency of cytochrome C oxidase.

We report on the first case, a 21-year-old man, with partial deficiency of cytochrome c oxidase, lipid storage myopathy and concomitant lipid storage in the gastric mucosa affecting chief, parietal, and argentaffine cells as well as interstitial macrophages. The clinical symptoms consisted of increasing muscle weakness, cramps of the legs, and severe gastric pain that was resistant to treatment. Muscle biopsy specimens showed severe lipid storage in muscle fibers. Enzyme histochemistry revealed partial deficiency of cytochrome c oxidase (COX) with scattered non-reactive fibers among a majority of COX-positive fibers whereas biochemical analysis of muscle homogenates resulted in no corresponding defect of mitochondrial enzymes. Gastric biopsy specimens showed similarly to muscle fibers an extensive accumulation of lipid droplets in the chief cells, HCl producing parietal cells, macrophages, neutrophilic and eosinophilic leucocytes, and to a lesser degree also in argentaffine cells and unmyelinated axons of the gastric mucosa. The lipid droplets were associated with an insignificant increase in the number and size of mitochondria although paracristalline mitochondrial inclusions were neither noted in muscle fibers nor in cells of the gastric mucosa. These findings resemble those in multisystem triglyceride storage disease although the clinical signs were not reminiscent of this disease, and indicate that among the clinically heterogeneous group of cytochrome c oxidase deficiencies lipid storage may not be confined to muscle, but can affect the gastric mucosa as well.

Adult↗
PubMed1991

Myopathies and cardiomyopathies: histochemical and biochemical analyses.

The most frequent muscle diseases affecting the heart are muscular dystrophies and myotonic dystrophy. Apart from congenital heart diseases, various metabolic disorders are characterized by cardiac involvement. Potent candidates are carnitine deficiency, beta-oxidation deficiencies, and mitochondrial myopathies such as Kearns-Sayre syndrome. A typical example of an anaerobic metabolic myopathy causing cardiomyopathy is acid maltase deficiency. For diagnosis, ECG and echocardiography as well as cardiac catheterization should be performed and, if indicated, a heart muscle biopsy should be carried out. Diagnosis of the underlying disease should be possible from skeletal muscle biopsy. Besides routine staining, histology should include specific stainings for glycogen, lipids and mitochondrial activity or dystrophin. If certain histochemical abnormalities are found indicating a metabolic disorder, biochemistry is helpful for final diagnosis.

Cardiomyopathies↗
PubMed1991

Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.

Kearns-Sayre syndrome has been associated with large heteroplasmic mitochondrial DNA deletions and morphological alterations at the cytological level. We have measured the activities of different respiratory chain complexes in 3 patients presenting mitochondrial DNA deletions and found no close correlation between gene deletions and enzymatic activities. These data, therefore, point out the importance of analyses at the mitochondrial DNA level in such mitochondrial disorders because gross biochemistry may miss any defect.

Adult↗
PubMed1990

Subnormal carnitine levels and their correction in artificially fed patients from a neurological intensive care unit: a pilot study.

Primary and secondary carnitine deficiency syndromes are characterized by myopathy, encephalopathy and hepatopathy. We measured plasma levels of free and esterified carnitine in 20 patients from our neurological intensive care unit who required intravenous or tube feeding. After 2-3 weeks 19 patients showed a 30%-60% decrease in the levels of serum free and total carnitine. As soon as oral feeding was recommenced, carnitine levels quickly returned to normal. These data suggest the need for new carnitine-enriched feeding fluids, which are presently under investigation.

Adolescent↗