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Biomedical subjects

T de Barsy

Publications and source records attributed to T de Barsy.

At least 19 recordsLinked to original sources
PubMed1992

Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis.

Orthotopic liver transplantation (OLT) has been proposed to treat patients with type IV glycogenosis because of early progressive cirrhosis. Reports have shown absence of disease progression in other organs after OLT and even regression of cardiac amylopectin infiltration in one case. We describe a 15-month-old child in whom a liver transplant was performed for type IV glycogenosis. There were no clinical signs of extrahepatic disease before OLT. Nine months later, the patient developed progressive cardiac insufficiency and died from cardiac failure. Because of massive amylopectin deposits, decreased myofibrils in cardiac cells, and exclusion of other causes of cardiac failure, death was attributed to amylopectionosis. Our observation contrasts with the Pittsburgh experience and suggests that cardiac amylopectionosis may progress after OLT.

Amylopectin↗
PubMed1992

[Polysaccharide amylopectin-type storage myopathy].

We report a late onset form of polysaccharide myopathy with progressive limb girdle muscles weakness, without cardiomyopathy. Muscle biopsy showed a vacuolar myopathy in type 1 fibres. The PAS positive diastase resistant deposits were made of filamentous material at electron microscopy similar to long chain glycogen. Muscle glycogen levels and glycogen metabolism enzymes were normal. Numerous abnormal mitochondrial with paracrystalline inclusions were observed around the storage material. Twelve patients with polysaccharide amylopectin-like storage myopathy have previously been reported. This disease must be distinguished from other diseases with polysaccharide accumulation such as branching enzyme deficiency and some cases of phosphofructokinase deficiency. In other disorders, no deficient enzymes in the glycogen pathway was found. Some of them show systemic storage (Lafora disease, adult polyglucosan body disease). Corpora amylacea, Bielchowsky bodies and basophilic degeneration of the myocardium represent localised depositions. A few inclusions can also be observed in hypothyroid myopathy. In polysaccharide myopathy allosteric inactivation of phosphofructokinase by a mitochondrial dysfunction is considered by analogy with cases of polysaccharide storage related to phosphofructokinase deficiency.

Aged↗
PubMed1992

[Clinical and biochemical correlations in certain metabolic myopathies].

Muscular glycogenosis is a disease resulting from genetical abnormalities altering an enzyme which is involved in glycogen metabolism. In addition to disorders of glycogenosis and glycolysis, there are other pathological processes such as alpha-glycosidase deficiency and diseases associated with abnormal polysaccharide structure. A short review of the various diseases with their particular features is reported.

Glycogen↗
PubMed1992

A European head injury evaluation chart.

In 1988, 40 experts (physicians, psychologists, social workers, lawyers, family association representatives...) coming from the E.E.C., the United States, Canada and Sweden met in Brussels to derive the guidelines for a minimal assessment of head injured people. This workshop led to a research contract between E.B.I.S. (European Brain Injury Society) and the E.E.C. Directorate for Science regarding a European evaluation document. The aims of the document are both clinical and scientific. Hence the document has to be simple, specific and feasible. The document has two parts: initial state and repeated follow-up. It ends with final comments and action plan. The first statistical data of the validation study concern mainly the link between initial severity of injury and final handicap, cognitive and behavioural troubles, familial and professional aspects of handicap.

Activities of Daily Living↗
PubMed1990

Brain glucose metabolism in postanoxic syndrome. Positron emission tomographic study.

Thirteen positron emission tomographic studies of cerebral glucose utilization were carried out in 12 patients with postanoxic syndrome due to cardiac arrest. Seven subjects were in a persistent vegetative state. The 5 other subjects were normally conscious, but disclosed focal neurological signs. When compared with normal values, mean cerebral glucose metabolism was drastically decreased (+/- 50%) in vegetative subjects, and to a lesser degree (+/- 25%) in conscious patients. The most consistent regional alterations were found in the parieto-occipital cortex (9 cases), the frontier between vertebral and carotid arterial territories, followed by the frontomesial junction (5 cases), the striatum (3 cases with dystonia), thalamus (2 cases), and visual cortex (2 cases with cortical blindness). These data suggest that brain anoxia can result in global brain hypometabolism, which appears related to the vigilance state, as well as in regional alterations preferentially located in arterial border zones.

Adult↗
PubMed1990

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.

To determine the tissue distribution of glycogen debranching enzyme, we used immunoblot analysis with a polyclonal antibody prepared against purified porcine muscle debranching enzyme. Debranching enzyme was identified in porcine brain, kidney, cardiac muscle, skeletal muscle, liver, and spleen; and in human liver, skeletal muscle, lymphocytes, lymphoblastoid cells, skin fibroblasts, cultured chorionic villi, and amniocytes. In each of these tissues the debranching enzyme band was 160 kd. To determine the molecular basis for glycogen storage disease type III at the protein level, tissues from 41 patients with glycogen storage disease type III were also subjected to immunoblot analysis. Three patients having isolated transferase deficiency with retention of glucosidase activity (type IIID disease) had nearly normal amounts of cross-reactive material. In the remaining patients (both transferase and glucosidase deficiency), debranching enzyme was either absent or greatly reduced. These latter patients included 31 with disease that appeared to involve both liver and muscle (type IIIA), four with disease that was present only in the liver (type IIIB), and three with unknown muscle status. In patients with both type IIIA and type IIIB disease, debranching enzyme protein was absent in skin fibroblasts, lymphoblastoid cells, and lymphocytes. The parents of two patients with type IIIA disease had an intermediate level of debranching enzyme protein, consistent with their presumed heterozygote state. An immunoblot analysis of cultured amniotic fluid cells from a woman whose fetus was at risk for type IIIA disease predicted an unaffected fetus; the prediction was confirmed postnatally. Thus Western blot analysis offers an alternate method of prenatal diagnosis for the most common form of glycogen storage disease type III.

Blotting, Western↗
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↗