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Biomedical subjects

T de Barsy

Publications and source records attributed to T de Barsy.

At least 37 records · Page 2Linked to original sources
PubMed1990

Neuronal ceroid-lipofuscinosis: preferential metabolic alterations in thalamus and posterior association cortex demonstrated by PET.

Regional brain glucose utilisation was investigated with positron emission tomography (PET) and fluorodeoxyglucose (FDG) in four siblings with neuronal ceroid-lipofuscinosis. A consistent pattern was found, namely a decrease of glucose utilisation in all grey structures but more marked at the level of the thalamus and posterior association cortex. The severity of metabolic anomalies was correlated with the degree of clinical impairment and with disease duration; they were the most severe in the oldest patient, who was also the most affected clinically, intermediate in two others, and minimal in the subject with the shortest period of development of the disease. These observations suggest that PET is useful for the definition of anatomical targets of metabolic diseases and for the investigation of their pathophysiology.

Age Factors↗
PubMed1990

Event-related potentials and cognitive functions in epileptic treated patients.

Antiepileptic drugs as well epilepsy itself are known to induce some cognitive impairment. Thirty-six epileptic patients under unchanged and reduced therapy conditions were followed from a clinical (seizures' evaluation, reaction times [RTs], memory tests) and neurophysiological (EEG, BAEPs, ERPs) point of view, weekly as inpatients (mean stay 8.9 weeks) and after 1 and 3 months as outpatients. This study showed on one hand no clear correlation between RTs and ERPs components, and on the other hand an improvement of the most complex RT after reduction of polytherapy or stabilization of seizures by the introduction of carbamazepine-CR in newly treated patients. These data suggest that in epileptic patients there exists a slowing of cognitive processes between the stimulus evaluation time and the motor response and that this step is improved when a reduced but efficient therapy is given.

Adolescent↗
PubMed1990

[Intolerance to exercise caused by carnitine palmitoyltransferase deficiency].

Exercise intolerance with slight myalgia worsened by a cold environment resulted in the diagnosis of CPT deficiency in a young boy with no family history. Recurrent myoglobinuria is not the hallmark of such a deficit. Biochemical examination of muscle biopsy in suggestive situations is the way to diagnosis. Concomitant myoadenylate deficiency in this patient could represent a precipitating factor. Partial CPT deficiency in all the patients reported was first explained through the mechanism of intra mitochondrial fatty acid transport but raises questions about the regulation of CPT synthesis.

Acyltransferases↗
PubMed1988

[Cardiomuscular lysosomal glycogenosis in adults without known enzyme deficiency. A cause of familial myocardiopathy and lysosomal glycogen overload with normal acid maltase].

An unusual form of familial myocardiopathy is reported. The disease affected siblings entering adulthood and presented as subclinical skeletal muscle and patent cardiac muscle lesions. Quadriceps muscle biopsy performed in a young man who subsequently died of cardial failure revealed excessive lysosomal glycogen storage, as in type II glycogenosis, but biochemistry showed normal enzymatic activity. In a sister with hypertrophic myocardiopathy only leucocytes were examined; they also showed normal enzymatic activity. Other clinical manifestations of this form of familial myocardiopathy are hypoglycaemia and moderate skeletal muscle involvement. At histology, the image is that of Pompe's disease, but the acid maltase level is normal. The condition seems to be transmitted as an autosomal dominant trait.

Adult↗
PubMed1987

Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies.

A histochemical assay was routinely performed of myoadenylate deaminase (MAD) in muscle biopsy specimens. MAD was absent in 13 cases, i.e. 2.9% of the specimens. In 10 cases the deficiency was confirmed biochemically. The diagnoses in the 13 patients were: polyneuropathy (n = 5), infantile spinal muscular atrophy (n = 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy, polymyositis, myotonic dystrophy and hyperornithinaemia with gyrate atrophy of the retina. In contrast, 35 unrelated patients presenting with exercise-related muscle cramps or pains showed normal histochemical MAD activity. The biopsy specimens in all of these patients were essentially normal and in none of them was the diagnosis of a neuromuscular disease made. The results failed to confirm the association of MAD deficiency with aches, cramps and pains or exertional myalgia.

AMP Deaminase↗
PubMed1986

The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.

Three female cases of the "rigid spine" syndrome are reported and associated with different nosological entities. One patient was affected by congenital muscular dystrophy and one by a morphological pattern of fibre type disproportion with type I atrophy. The third patient showed very peculiar morphological changes on a muscle biopsy specimen resembling a vacuolar myopathy, which is rarely described in association with the rigid spine syndrome. The importance of an adequate investigation of the rigid spine syndrome and the recognition of the presence or absence of cardiomyopathy, if there is to be correct genetic counselling, is discussed.

Adolescent↗
PubMed1985

Muscle carnitine deficiency in old age. Case report and therapeutic results.

A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay. Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later. Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully.

Aged↗
PubMed1985

Nucleolar activation and vacuolation in embryo radicle cells during early germination.

The activation of the nucleolus of primary root cells of Sinapis alba embryos during the first 72 h of germination was monitored by autoradiographic, ultrastructural and microstereological methods. Autoradiographs showed that within 48 h, the nucleolus progressively resumed the capacity to synthesize pre-rRNA molecules at a high rate. In quiescent embryos the nucleolus was small, compact and composed of mixed granular and fibrillar components. Within the first 6 h of germination a strong nucleolar vacuolation occurred, accompanied by a decrease in the volume of the nucleolus and a concomitant high loss of its ribonucleoproteins (RNPs). From 6 to 24 h, nucleolar vacuolation decreased to reach a stable level. During this last period the volume of the nucleolus increased by the accumulation of the fibrillar component resulting from a slow pre-rRNA processing. At 24 h the nucleolus presented a predominantly fibrillar texture. After 24 h, nucleolus growth continued but was due to the accumulation of the granular component, indicating that pre-rRNA processing occurred at a higher rate than during the first day of germination. From 48 h the nucleolus was composed of well-delineated granular and fibrillar areas. Dense nucleolus-associated chromatin as well as fibrillar centres were always observed during the whole period of observation. In addition, previous studies on the nucleolus of radicle cells of Zea mays embryo during early germination were completed by studying changes in the nucleolar volume and in the density of pre-ribosomal subunits of the granular component. On the basis of the data obtained with both species we suggest that a possible function for the nucleolar vacuoles is the increase in the nucleolus-nucleoplasm exchange interface in response to a rapid increase in the output of nucleolar RNPs. The nucleolar growth pattern during early germination is also discussed.

Autoradiography↗
PubMed1983

Idiopathic recurrent myoglobinuria and persistent weakness.

The case of an adolescent with idiopathic recurrent myoglobinuria is reported. The following features are emphasized: (1) persistence of limb weakness and elevated CK levels between the attacks, (2) a constant myopathic pattern in EMG, and (3) chronic morphologic abnormalities of myopathy in two muscle biopsies. All known causes of myoglobinuria were investigated and ruled out.

Adolescent↗
PubMed1981

Polysaccharide (amylopectin-like) storage myopathy histochemical ultrastructural and biochemical studies.

A case of an adult polysaccharide myopathy is reported in a patient with progressive muscular atrophy and weakness of limb girdles. Histochemistry and electron microscopy showed in some muscle fibers, a storage material composed of amylopectin-like filaments. Biochemical results were normal and no enzyme deficiency was found. This case is compared with three other published cases. Pathological conditions with amylopectin or amylopectin-like storage material are reviewed.

Amylopectin↗
PubMed1981

Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.

Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase deficiency. Whereas AMP-deaminase has been shown to play an essential role in the regulation of adenine nucleotide metabolism in the liver, its physiological function in muscle remains uncertain.

AMP Deaminase↗
PubMed1981

[A study of the abnormal polysaccharide in a child with type IV glycogen storage disease (author's transl)].

In type IV glycogen storage disease, the abnormal storage material is a partially amylase-resistant, PAS-positive polysaccharide and a deficiency of the branching enzyme is present in virtually all cases studied so far. Electron microscopic, biochemical and enzymatic studies were carried out in a child presenting with the clinical and histological features of this disease. Electron microscopic study showed the amylase-resistant material to be fibrillar and poorly soluble in buffers. Iodine spectrum analysis indicated that the lambda max of the liver polysaccharide was between that of normal glycogen and that of typical type IV glycogen. Branching enzyme activity was not detectable in the patient's leucocytes but was close to normal in the liver and clearly detectable in cultured fibroblasts. These results suggest that the absolute value of the deficiency of the branching enzyme in the liver of patients with type IV glycogen storage disease could be questioned. Alternatively this patient as well as another one reported in the literature could be considered as subtypes of the disease in whom liver and fibroblast branching enzyme activity remains detectable in vitro.

1,4-alpha-Glucan Branching Enzyme↗
PubMed1980

The retina in Lafora disease: light and electron microscopy.

Lafora bodies are described in the retina of a 16 year old female who died five years after the onset of a typical familial progressive myoclonus epilepsy which was diagnosed as Lafora disease by brain biopsy and by autopsy findings. The patient was the offspring of consanguinous parents who had three affected siblings out of nine. The fine structure and distribution of Lafora bodies, which represent a specific non-lysosomal cell storage disorder, is reported for the first time in the human retina. The nature of the abnormal material in the Lafora bodies, which are identical to those present in the brain, heart and liver tissues in the same patient and in her brother, is discussed according to their iodide spectrum. In this respect, Lafora disease might be related to the inborn errors of carbohydrate metabolism and its relationship with Type IV Glycogenosis (Anderson's disease) must be verified by further investigations.

Adolescent↗
PubMed1979

Uncommon case of type II glycogenosis.

The authors report an uncommon case of type II glycogenosis. An 8-year-old boy developed a slow progressive myopathy. Biopsy of skeletal muscle showed scarce lesions under the optic microscope but in 50% of the fibers the presence of vacuoles filled with glycogen under the electron microscope. Ultrastructural analysis of fibroblasts in culture showed numerous vacuoles filled with glycogen, characteristic of type II glycogenosis. Enzymatic analysis revealed that acid-alpha-glucosidase activity was normal in muscle tissues but deeply deficient in leukocytes and fibroblasts in culture. This is, as far as we know, the first case with such a discrepancy in the distribution of the enzymatic activity, and it underlines the necessity of investigating several tissues in atypical cases.

Biopsy↗
PubMed1976

Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study.

Acid maltase deficiency is described in non-identical adult twins. The onset of the disease can be traced into late infancy; the clinical picture is one of severe muscular dystrophy; respiratory insuficiency was the cause of death in one case. The autopsy showed the central nervous system, heart and liver to be spared. Glycogen filled vacuoles are found in skin, mesenchymal cells, small nerves and skeletal muscles. The light microscopic study of 9 different muscles showed extremely variable involvement ranging from normal appearance to overt vacuolization. A 6--20% residual acid alpha-glucosidase activity was found in visceral organs, cultured fibroblasts and in some skeletal muscles. No satisfactory explanation can be given why this generalized acid alpha-glucosidase deficiency produces a selective involvement of skeletal muscles. If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein. From our study and from a similar report in the literature (de Barsy et al., 1975), it appears that a combined approach of light microscopy, electron microscopy and biochemical analysis (determination of acid alpha-glucosidase) is necessary to make a diagnosis of AMD in adults.

Adult↗
PubMed1976

A morphologic and biochemical study of the fate of antibody-bearing liposomes.

The effect of the intravenous administration of gamma-globulins, entrapped or not within liposomes, was investigated in rodent liver. Desialation of gamma-globulins did not influence significantly their uptake by this organ. Fluorescein-labeled nonspecific gamma-globulins and antibodies raised against the lysosomal acid alpha-glucosidase were entrapped within two types of liposomes. The administration of negatively charged liposomes made of lecithin, cholesterol, and dicetylphosphate was badly tolerated. Positively charged liposomes, in which dicetylphosphate was replaced by stearylamine, allowed a considerably higher yield of entrapment and were well tolerated by the animals. Approximately half of the fluorescent gamma-globulins were recovered in the liver, and evidence is presented for the intralysosomal localization of positively charged liposomes, both in the reticuloendothelial cells and in the hepatocytes. A striking difference exists, nevertheless, in the appearance of the two types of cells, 1 hour and 7 1/2 hours after injection. The specific antibodies never inhibited more than 50% of the activity of liver acid alpha-glucosidase, and there was no significant modification in the glycogen content of this organ. This work points to the influence of the composition of liposomes, in determining the entrapment of proteins, the toxicity, the uptake by the liver, and the distribution of these lipidic spherules in the different types of cells. This factor will have to be taken into account if liposomes are to be used as vectors in the treatment of lysosomal storage diseases.

Animals↗