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Biomedical subjects

J F Pellissier

Publications and source records attributed to J F Pellissier.

At least 19 recordsLinked to original sources
PubMed1992

Polymyalgia rheumatica and mitochondrial myopathy: clinicopathologic and biochemical studies in five cases.

PURPOSE: The coexistence of mitochondrial myopathy and polymyalgia rheumatica without giant cell arteritis is an interesting association. The frequency of this association was assessed in a prospective study. PATIENTS AND METHODS: Muscle biopsy specimens were obtained from 15 patients with polymyalgia rheumatica. When ragged red fibers (RRF) were observed, histochemical, ultrastructural, and biochemical studies were performed. RESULTS: In five cases, we found the typical appearance of mitochondrial myopathy, with the presence of numerous RRF. Histochemical and biochemical results confirmed these mitochondrial myopathies, showing miscellaneous deficiencies of mitochondrial respiratory chain enzymes. CONCLUSION: Persistence of histologic and biochemical abnormalities after steroid treatment in two patients seems to indicate that a subclinical mitochondrial myopathy preceded polymyalgia rheumatica. How a mitochondrial myopathy could induce or facilitate the emergence of a polymyalgia rheumatica remains unknown.

Aged↗
PubMed1992

Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies.

In order to evaluate the developmental status of myofibers in 3 cases of adult centronuclear myopathies (CNM) with type I predominance, we searched for the expression of (a) developmentally regulated cytoskeleton proteins (myosin heavy chains (MHC), vimentin, desmin), and (b) cell surface molecules (neural cell adhesion molecules isoforms, NCAM). Desmin intermediate filaments were overexpressed in some fibers with centrally located nuclei and radially organized. Muscle fibers do not express vimentin. These findings were not observed in muscle biopsies from disease controls with numerous central nuclei. Few myofibers (less than 5%) expressed developmental MHC together with either embryonic NCAM or adult NCAM and rare fibers only expressed adult NCAM. Most of the remaining fibers neither expressed NCAM nor developmental MHC but were slow MHC positive. These features do not favor the hypothesis of a general arrest of muscle fiber maturation in adult CNM. It is more likely that fibers undergo a very slow developmental process with a long delay of innervation as shown by some fibers with NCAM expression. Nevertheless, innervation appears to be successful, as suggested by the large number of NCAM negative fibers. Moreover, the abnormal myofiber distribution could be related to this functional disturbance of innervation.

Adult↗
PubMed1992

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.

Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria. The boy died at the age of 7 weeks. In the second case hypotonia, severe cardiomyopathy, cyclic neutropenia, lactic acidosis and 3-methylglutaconic aciduria occurred. The boy died at the age of 27 months. The third case presented at the age of 16 months as an acute hypokinetic hypertrophic cardiomyopathy with transient hypotonia and mild lactic acidosis. Spontaneous clinical remission occurred. In all cases muscle biopsy was performed. Morphological studies failed to show ragged-red fibers but there was lipid storage myopathy and decreased cytochrome c oxidase activity. Biochemical studies confirmed the cytochrome c oxidase deficiency in muscle in all cases. It was associated with complex I III deficiency in case 1 and with severe deficits of all respiratory chain complexes in case 2. Post-mortem studies in case 1 indicated that complex IV was reduced in the liver but not in the heart and quantitative analysis of mtDNA revealed a depletion in muscle. Cases 1 and 2 shared some clinical features with fatal infantile myopathy associated with cytochrome c oxidase deficiency, while case 3 displayed a very unusual clinical presentation. The histochemical enzyme reaction of cytochrome c oxidase is useful for the diagnosis of mitochondrial myopathy because ragged-red fibers may be lacking. Finally, biochemical measurement of the different mitochondrial respiratory chain complexes is required because multiple defects are frequent and occasionally related to mtDNA depletion.

Abnormalities, Multiple↗
PubMed1992

A homologue of dystrophin is expressed at the blood vessel membrane of DMD and BMD patients: immunological evidence.

Muscles from Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) patients were analysed using monoclonal and polyclonal antibodies raised against different regions of the dystrophin molecule. On blot, two of the antibodies detected a protein of Mr 400K in muscle extracts from all patients, including a BMD patient with a deletion which spanned more than 40% of the central rod domain of the Xp21 encoded dystrophin. Immunocytochemical labelling of tissue sections from the same patients showed that the same two antibodies labelled a protein at the surface membrane of smooth muscle fibers in blood vessels of both BMD and DMD muscles. Thus we have demonstrated a 400K blood vessel-associated protein, which is immunologically homologous with dystrophin, for at least two epitopes from the carboxy terminal and the central rod domains must be encoded by another gene than the dystrophin gene.

Adult↗
PubMed1992

Ectopic intrapelvic medulloepithelioma: case report.

A primary extraspinal medulloepithelioma with lung metastases is reported. The tumour was located in the presacral area. Microscopically, it showed typical features of medulloepithelioma with focal ependymal differentiation. Medulloepitheliomas are malignant tumours of primitive neuro-epithelium usually involving the cerebral hemispheres. This report demonstrates their possible extraspinal presacral occurrence. By immunohistochemistry, neuron-specific-enolase, S100 protein, vimentin, cytokeratin and glial fibrillary acidic protein were found in some tumour cells. Electron microscopy demonstrated poorly differentiated cells forming stratified epithelium resting on a basal lamina and short junctional complexes at the apical pole. Ultrastructural evidence of ependymal differentiation was observed. Presacral medulloepithelioma may arise from undifferentiated embryonic cells forming the presacral remnants of the neurenteric canal.

Adolescent↗
PubMed1992

31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies.

Two patients with mitochondrial encephalomyopathy due to complexes I and IV deficiencies received 150 mg/d of coenzyme Q10 (CoQ). We studied them with a bicycle ergometer exercise test and 31P NMR spectroscopy before and after 10 months of treatment. Before treatment, we observed a low phosphocreatine/inorganic phosphate (PCr/P(i)) resting value along with abnormally high resting lactate concentration. During exercise, there was a pronounced acidosis with delayed kinetics of postexercise recovery for blood lactate, pH, PCr, and PCr/P(i) ratio. Oxygen uptake during exercise was reduced while the lowering of the ventilatory threshold indicated an early activation of glycolysis. After treatment, the bicycle ergometer exercise test indicated a significant improvement with a decrease in resting blood lactate level, an increase in oxygen consumption during exercise, and an increase in the kinetics of lactate disappearance during the recovery period. A shift of the ventilatory threshold to higher workload was present. 31P NMR spectroscopy confirmed the improvement, showing a significant increase in the PCr/P(i) ratio at rest and in the kinetics of recovery for pH, PCr, and PCr/P(i) ratio following exercise in patient 1. For patient 2, we observed a less pronounced acidosis correlated with a lesser amount of Pi produced during exercise. These observations indicate an improvement of mitochondrial function and a shift from high to low glycolytic activity in both patients consequent to CoQ treatment.

Adolescent↗
PubMed1992

[Expression of adhesion molecules N.CAM, L1 and HNK1 epitope by medulloblastoma].

Twelve medulloblastomas were screened for their expression of adhesion molecules L1, N.CAM isoforms and HNK1 epitope by Western blotting and immunohistochemistry. Highly sialylated N.CAM isoforms were distinguished from total N.CAMs by using a monoclonal antibody (anti-MenB) specifically recognizing high polymers of 2-8 linked neuraminic acid. All tumors expressed HNK1 epitope, N.CAM and its highly sialylated isoforms on their surface membrane. L1 adhesion molecule was detected by immunohistochemistry in only one medulloblastoma. This spectrum of expression of cell surface adhesion molecules distinguishes medulloblastomas from other primitive neuroectodermal tumors. Medulloblastomas share some immunological features with post-mitotic cells forming the external granular layer of the cerebellum. Western blotting analysis of cerebrospinal fluid (CSF) samples with anti-MenB antibody enabled us to detect highly sialylated N.CAM in some samples. The presence of this antigen in CSF appears to correlate with meningeal spreading of medulloblastomas and could help monitoring chemotherapeutic treatment.

Antibodies, Monoclonal↗
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

[Chronic polyradiculoneuritis. 25 cases].

Twenty-five patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) were studied in order to define the clinical, biological, electrophysiological and pathological features of this disease. There were 11 men and 14 women ranging in age from 15 to 82 years. The average follow-up was 43 months. Patients fulfilled the criteria laid down by Dyck et al. (1975), except that progression of weakness was at least 2 months and not 6. Fourteen patients had a progressive course and 11 a relapsing one. Weakness was almost constant (24/25), sensory impairment was present in 22/25 with deep sensation predominantly impaired. Areflexia was observed in all patients. A history of previous infection or other possible precipitating event was given by 7 patients. Cerebrospinal fluid examination showed a raised total protein count in 22 cases. Electrophysiological examination revealed a slowing down of nerve conduction velocities to an extent compatible with a demyelinating process in 23 cases; 2 patients only had prolongation of F-waves. Sural nerve biopsy was less informative: inflammatory process--the most specific finding--was observed in only 3 out of 20 biopsies. Six patients had benign forms or spontaneous remission, the others were treated with corticosteroids or with immunosuppressive drugs. Most patients (64%) recovered very well. Only one died during the time of study. Eight other patients were treated with high-dose intravenous immunoglobulins and 4 of them improved with administrations at regular intervals to maintain the benefits observed. The occurrence of CIDP in association with other conditions is reviewed and we discuss its nosological position among the acquired demyelinating neuropathies.

Adolescent↗
PubMed1992

[Segmental dystonia and mitochondrial encephalomyopathy].

A 55 year-old male experienced a dystonia of the right upper limb followed by a ptosis with complete ophthalmoplegia and cataract. He developed a sensory neuropathy and personality changes. Ragged-red fibers were found on muscle biopsy. There was a major defect in complex III and IV activity.

Blepharoptosis↗
PubMed1992

[Inclusion body myositis and neuromuscular diseases with rimmed vacuoles].

A retrospective study of 40 patients with various neuromuscular disorders and more than 3 muscle fibers with rimmed vacuoles has been performed. Two subgroups of patients were distinguished according to the presence or absence of inflammatory exudates. In the first group (14 patients), inflammatory exudates were observed and numerous fibers showed partial invasion. Abnormal filamentous inclusions (16-18 nm in diameter) were found by electron microscopy in muscle fibers cytoplasm and/or nuclei. The diagnosis of inclusion body myositis (IBM) was made in these cases. They presented with insidious proximal muscle weakness and were not improved by immunosuppressive therapy. Immunohistological studies demonstrated T lymphocytes predominance, only few natural killer and B lymphocytes. The number of T8 lymphocytes was high in endomysial sites while T4 were more numerous in perivascular exudates. Abnormal membranous expression of class I MHC antigens was observed on muscle fibers lying near the inflammatory exudates. In the second group of cases (26 patients), no inflammatory exudate was observed. This group of neuromuscular diseases with rimmed vacuoles was heterogeneous. In 10 cases, abnormal filamentous inclusions (16-18 nm in diameter) were observed in rimmed vacuoles. However, this ultrastructural feature did not help in distinguishing subgroups. Various neuromuscular disorders were observed in this group: oculopharyngeal muscular dystrophy (12 cases with IBM like filaments in 4 cases), chronic spinal atrophy (5 cases with IBM like filaments in 3 cases), post poliomyelitis syndrome (2 cases with IBM-like filaments in one), muscle glycogenosis with IBM like filaments (2 cases), hereditary limb girdle myopathy or distal myopathy (3 cases) and 1 patient clinically presenting with polymyositis and another with cramps and myalgias. No abnormal sarcolemmal expression of class I MHC was found in this group. The pathogenesis of IBM is discussed. Besides T cell mediated cytotoxicity, denervation may be involved. The nature of the abnormal 16-18 nm filamentous inclusions remains unknown. These filaments are not IBM specific.

Adult↗
PubMed1992

[Axonal neuropathy and salazosulfapyridine: slow-acetylator phenotype].

We report a case of an axonal sensorimotor neuropathy involving salazosulphapyridine in a slow-acetylator patient with ulcerative colitis. Rather than hypersensitivity the mechanism of the neuropathy can be assumed to be toxicity. The role played by the respective different metabolites in the occurrence of this uncommon side effect is uncertain.

Acetylation↗
PubMed1992

Central neurocytomas. Critical evaluation of a small-cell neuronal tumor.

We report herein the clinical and pathological features of 20 patients with central neurocytomas. Investigations for various differentiation antigens and cell type-specific markers were performed by immunohistochemistry using paraffin-embedded tissue. In addition, the expression of L1 adhesion molecule and of the various N.CAM (neural cell adhesion molecule) isoforms were investigated by immunoblotting studies in two frozen specimens. Central neurocytomas are clinically characterized by their intraventricular localization, occurrence in young adults, and good prognosis. It rarely occurs in patients over 50, but such cases have a poor prognosis. Total surgical excision is the best treatment. Radiotherapy is appropriate if surgery is incomplete or contraindicated. Histologically, central neurocytomas display the following features: an oligo-like pattern, usually associated with large fibrillary rosettes or perivascular arrangement, and a rich endocrine-type vasculature. Central neurocytomas have a remarkably homogeneous antigenic profile. GFAP expression is only found in scattered reactive astrocytes, S100 protein in reactive astrocytes and rare tumor cells. Among the pan-neuroendocrine markers, central neurocytomas always express neuron-specific enolase; they frequently express synaptophysin but never chromogranin A. Synaptophysin is the most reliable immunohistological marker for central neurocytomas; however, immunoreactivity could be lost with long formalin fixation. In these cases, electron microscopy is used to support the neuronal nature of the tumor cells. The expression of L1 adhesion molecule and the isoform 180 of N.CAM, indicates that central neurocytomas are formed by cells committed to neuronal phenotype. Nevertheless, advanced neuronal differentiation may be absent, as suggested by the persistence of embryonic N.CAM, the nonexpression of neurofilament proteins, and the absence of mature synapses in numerous cases. Central neurocytomas and neuroblastomas share some biochemical properties, but their respective clinicopathological features and biological behavior are dramatically different.

Adolescent↗
PubMed1992

[Inflammatory myalgic syndrome and muscular mitochondrial abnormalities: 4 cases].

Histologic and biochemical anomalies of muscle mitochondria were identified in four patients with predominantly rhizomelic myalgia clinically suggestive of an inflammatory disease but inconsistent biologic evidence of inflammation. This clinical pattern was initially suggestive of atypical polymyalgia rheumatica and could not be ascribed to any other disease. To explain this combination of anomalies, several hypotheses can be put forward, including coincidence, aging, and nonspecific mitochondrial anomalies resulting from immunologic or inflammatory disease. The speculation that these patients have an autonomous syndrome cannot be outruled but should be considered with caution. A therapeutic trial with coenzyme Q is under way.

Aged↗
PubMed1992

[Post-poliomyelitis syndrome: 29 cases].

The post-polio syndrome refers to new neuromuscular symptoms developed by some patients many years after recovery from acute poliomyelitis. Several groups were separated: musculo-skeletal symptoms (different from a new spinal cord disease), infraclinical signs (EMG), post-polio muscular atrophy (new lower motor neuron objective signs) with several subgroups: cramps and fasciculations, benign focal weakness and atrophy (in previously affected muscles or in unaffected muscles), progressive spinal muscular atrophy. The following examination were performed in some cases, but not all, in this retrospective study: muscle CT scan, conventional electromyography (EMG), quantifying-EMG, macro-EMG and single-fiber EMG. The serum titers of neutralising antibodies to polio virus type 1, type 2 and type 3 were negative. No oligoclonal bands were found in the CSF from 6 patients screened by electrophoresis immunoelectrophoresis. Serum creatine kinase or aldolase was high in 6 patients. The same unusual features in this syndrome were observed on muscle biopsies: muscular hypertrophy and interstitial eosinophils; two patients had rimmed vacuoles in the muscle fibers.

Adult↗
PubMed1992

Telomeric association of chromosomes in human meningiomas.

In six cases of meningiomas, a karyotype with monosomy 22 and telomeric associations has been observed. The histopathological and cytogenetic correlations showed that the tumors with these chromosomal abnormalities were of a fibroblastic type and presented a certain degree of anaplasia. The relationship between telomeric association and malignancy is discussed.

Chromosomes, Human↗
PubMed1992

[Non hypertrophic amyloid myopathy with muscular inflammation in plasma cell dyscrasia].

The case of a 41 year old woman with amyloid myopathy is reported. Clinical involvement consisted of limb girdle muscle weakness, mild scapular muscle atrophy and dysphagia. In contrast with the published cases, abnormal firmness, pseudohypertrophy of the musculature and macroglossia were absent. Muscle biopsy showed endo- and perimysial amyloid deposits but also inflammatory infiltrates. Inflammatory cells typing was studied by immunocytochemical methods and revealed a predominant T-helper cell infiltration. Free kappa light chains were present in serum and urine. Serum immunoglobulin levels were reduced. Bone marrow examination revealed mild plasmocytosis without abnormal cells. Immunofluorescence and immunoperoxidase techniques for identification of the type of amyloid fibrils showed positivity with antisera to kappa light chains. A 4-year follow-up revealed a progressive worsening of muscle weakness despite immunosuppressive treatment. No malignant plasmocytosis occurred. The unusual inflammatory muscle infiltration observed in this case may suggest an associated polymyositis.

Adult↗