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Biomedical subjects

F Chapon

Publications and source records attributed to F Chapon.

At least 55 records · Page 3Linked to original sources
PubMed1995

[Celiac disease in adults revealed by sensory-motor neuropathy].

Central or peripheral nervous system complications are occasionally observed in adult patients with celiac disease. Several mechanisms have been proposed including vitamin deficiency, vascular inflammation and a direct effect of gluten intolerance. Typical nerve fiber damage due to demyelinization has been suggested. We observed a 65-year old woman with a right peroneal nerve palsy superimposed on a diffuse peripheral neuropathy who was found to have folic acid deficiency which in turn led to the diagnosis of adult celiac disease. Electrophysiological and histological studies demonstrated a predominantly demyelinating peripheral neuropathy which responded first to parenteral folic acid supplementation and second to a gluten-free diet. The mechanisms of peripheral nerve damage in adult celiac disease are briefly discussed and the possible role of folic acid deficiency is emphasized.

Aged↗
PubMed1995

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.

Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17p11.2 (CMT 1a). Micromutations were found in the gene for peripheral myelin protein 22 (PMP22) located in the duplicated region of CMT 1a, and in the peripheral myelin protein zero (PO) located on chromosome 1q21-q23 (CMT 1b). We have characterized two new mutations in the PO gene in two french families presenting CMT disease. Both mutations occur in the extracellular domain of the PO protein. One mutation is a de novo mutation and is from paternal origin.

Base Sequence↗
PubMed1995

Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study.

Muscle biopsy samples from five patients with cytoplasmic body myopathy (CBM) were investigated by immunohistochemical (antibodies to desmin, actin, dystrophin, spectrin, alpha actinin and utrophin), immunoelectron microscopic (antibodies to desmin, actin and dystrophin) and biochemical (desmin, dystrophin, actin and utrophin western blots) methods. Using immunofluorescence it was shown that the centers of cytoplasmic bodies (CB) were stained by anti-actin, anti-utrophin and three different anti-dystrophin antibodies. The peripheries were labeled by the anti-desmin antibody. Moreover, fibers containing CB showed a markedly increased staining of their entire sarcoplasm with the anti-desmin antibody. Using immunoelectron microscopy it was shown that anti-dystrophin antibodies selectively stained the external limit of the central granular region. Anti-desmin antibody labeled the filamentous halo, and anti-actin antibody stained the central core and the radiating filaments. Biochemical studies showed storage of desmin and dystrophin, both of normal molecular weight. Our results suggest that CBM should be considered along with a wider group of intermediate filament pathologies that include desmin-storage myopathies.

Antibodies↗
PubMed1995

[Myositis ossificans progressiva].

BACKGROUND: Myositis ossificans progressiva is a rare progressive disease of connective tissue with a poor prognosis. CASE REPORT: A 16 year-old girl suffered from lameness of her right leg associated with inguinal swelling. Progressive aggravation of pain with extension of swelling to the posterior part of her thigh required an X-ray examination which showed hip dysplasia and calcifications around the hip. Angiography was normal; a diagnosis of hematoma was suggested by scannography and bone scintigraphy, but biopsy showed features of nodular fasciitis. The association of progressive ectopic ossification to malformation of the big toe led to diagnosis of myositis ossificans progressiva. CONCLUSIONS: Congenital malformations, most commonly of big toes and thumbs, are important for distinguishing myositis ossificans progressiva from other diseases of muscle.

Adolescent↗
PubMed1995

[Demonstration of a specific profile of pathological Tau proteins in frontotemporal dementia cases].

We compared samples of different brain areas from patients with Alzheimer's disease (AD), progressive supranuclear palsy (PSP), controls subjects and from 4 patients who met the clinical and pathological criteria for frontotemporal dementia (FTD), using a Western blot analysis. We used polyclonal antibodies directed against Tau proteins and the monoclonal antibody AD2 for the immunodetection of the pathological Tau proteins which are the basic components of neurofibrillary degeneration. In the PSP and AD cases, we respectively detected the abnormal Tau proteins 64 and 69 and the Tau proteins 55, 64, and 69, systematically associated with bands and smears, corresponding to catabolic products or aggregates of these abnormal Tau proteins. In FTD cases, the abnormal Tau proteins 55, 64 and 69 were also detected in the frontal and temporal poles from the autopsied case and in the cortical biopsies. However, the profiles were different because smears and proteolytics products of Tau proteins were absent. There was no detection of abnormal Tau proteins in control brain homogenates and in biopsies from patients with other neurodegenerative disorders such as spongiform encephalopathies or primitive gliosis. These results demonstrate that pathological Tau proteins are produced during FTD degenerating process, despite the absence of neurofibrillary lesions.

Adult↗
PubMed1994

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

Hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and PC with myotonia permanens are closely related muscle disorders of genetic origin due to allelic mutations in the muscle sodium channel gene, SCN4A. Seven families of French origin with hyperPP were studied. Five of these had the Thr704Met mutation, but 2 families, genetically linked to SCN4A, failed to show any of the known mutations of SCN4A. Correlations between the phenotype and the genotype were made for patients with the Thr704Met mutation. All 12 patients over 30 years old with the Thr704Met mutation presented muscle weakness due to degeneration of muscle fibers in addition to periodic paralysis. Only approximately 12.5% of patients with the Thr704Met mutation presented with clinical myotonia and about 50% with hyperkalemia. One family with PC displayed the Gly1306Val mutation with a phenotype similar to the one already reported for this mutation. Five families with either PC or PC with myotonia permanens had the Thr1313Met mutation indicating that the severity of myotonia and its permanence were variable. Two mutations of SCN4A were found to be predominant in these 13 families: the Thr704Met and the Thr1313Met mutations. Only 2 families with the Thr704Met mutation and 3 families with the Thr1313Met shared the same SCN4A haplotype determined with intragenic dinucleotide repeats. Recurrent mutations of SCN4A may contribute to the predominance of these two mutations in the French population.

Adolescent↗
PubMed1993

Recurrent oligodendroglioma diagnosed with 11C-L-methionine and PET: a case report.

A benign oligodendroglioma was removed in a young patient who had temporal epileptic seizures. He then became free of any fit until 15 months after the operation, when he developed seizures progressively less controlled by therapy. All investigations were normal (including CT scan and MRI) except a PET study which showed a high uptake of 11C-L-methionine in the area of the previous tumor. The second operation revealed that this area was indeed a tumor recurrence. We briefly discuss the potential usefulness of PET for the follow-up of low grade gliomas.

Adolescent↗
PubMed1992

[Familial parkinsonian syndrome with athymhormia and hypoventilation].

Five cases of parkinsonism with athymhormia observed in a single family are reported. Death caused by central respiratory disorders occurred after 6 to 8 years of progressive course. In 2 cases with autopsy, there was a severe neuronal loss predominant in the substantia nigra. Other brain stem nuclei (locus coeruleus, dorsal motor nucleus of the vagus nerve, nucleus of the tractus solitarius) were involved, as well as the striatum, pallidum and frontal cortex. No Lewy body was seen. In the surviving patient, positron emission tomography demonstrated, 4 years after the onset, a bilateral frontal hypometabolism. This disease is a rare variety of familial parkinsonism of dominant inheritance, already reported in 2 Canadian families by Perry et al. (1975) and Purdy et al. (1978) and in a family of West Virginia by Roy et al. (1988). The respiratory disorders can be explained by the involvement of the dorsal medullary nuclei. The peculiar neuropsychological disorder and motor slowing are best accounted for by the functional impairment of both motor and limbic striato-pallido-thalamo-frontal loops.

Cerebral Cortex↗
PubMed1992

[Diffuse cerebral gliomatosis. An anatomoclinical case].

A 52-year old man had a generalized seizure followed by progressive memory disturbances, affective changes, right hemiplegia and aphasia. He died 4 years later after a period of coma. Neuropathological findings included slight cortical atrophy, pallor of the centrum ovale, and infiltration of the cortex and subcortical white matter by neoplastic glial cells, with neither major neuronal loss nor spongiosis. Microglial rod cells were observed. The gliomatosis extended within the thalamus and subthalamic area on both sides, whereas the brain stem was much less involved. The spinal cord and peripheral nerves were not examined. Abnormal glial cells were stained by the glial fibrillary acid protein, which confirms the astrocytic differentiation of the tumoral cells.

Brain↗
PubMed1991

Meningioma of the third ventricle. Computed tomography and magnetic resonance imaging.

Meningiomas of the third ventricle are rare intracranial neoplasms. We reported such a case in a 42 years old man without clinical evidence of increased intracranial pressure. Computed tomography (CT) and magnetic resonance imaging (MRI) demonstrated the tumour sitting in the superior and anterior part of the third ventricle, bulging into the lateral ventricles. CT was more effective than MRI in the demonstration of calcifications whereas MRI proved to be superior in delineation of the tumour and its relation with surrounding structures.

Adult↗
PubMed1991

[Accidental poisoning with podophyllin: a case with study of peripheral nerve].

A 53 year-old veterinary surgeon accidentally ingested 0.8 g of podophyllin. Twelve hours later, he was deeply comatose, with clinical and EMG signs of extensive axonal sensorimotor and autonomic peripheral neuropathy. In addition, transient bone marrow and hepatic toxicity occurred. The coma lasted 2 weeks. Systemic and neurological disturbances started to improve at 3 months post-onset, but the patient died four months later from gastro-intestinal bleeding. Sural nerve biopsy showed loss of myelinated fibers and signs of axonal degeneration with type E teased fibers. The cytoplasm of Schwann and endothelial cells was vacuolated and swelled. Diffuse interstitial aedema was noted. Podophyllin acts as a spindle poison, binds microtubular proteins and inhibits axoplasmic flow.

Accidents↗
PubMed1991

[Spinal lipoma associated with a neuromuscular hamartoma. Report of one case].

A 6 year-old boy with urinary incontinence, sensory loss and spastic weakness in lower limbs underwent surgical repair for low-lying spinal cord ending in an intradural lipoma. Within the lipoma, bundles and fascicles of striated muscles fibers were intimately associated with nerve fibers. This extremely rare histological appearance has been reported as benign "triton tumor". Our case allows a discussion of its histogenesis.

Child↗
PubMed1990

[Neonatal nemaline myopathy with favorable outcome].

A case of neonatal nemaline myopathy without respiratory distress is reported in a neonate. Its relatively benign course allowed survival without major complications. The discovery of a "central core disease" myopathy in her asymptomatic father confirms the relation between both entities.

Female↗
PubMed1989

Regional cerebral blood flow during comprehension and speech (in cerebrally healthy subjects).

Regional cerebral blood flow (rCBF) was measured by the xenon-133 inhalation method in 10 cerebrally healthy subjects at rest and during linguistic activation tests. These consisted of a comprehension test (binaural listening to a narrative text) and a speech test (making sentences from a list of words presented orally at 30-s intervals). The comprehension task induced a moderate increase in the mean right CBF and in both inferior parietal areas, whereas the speech test resulted in a diffuse increase in the mean CBF of both hemispheres, predominating regionally in both inferior parietal, left operculary, and right upper motor and premotor areas. It is proposed that the activation pattern induced by linguistic stimulation depends on not only specific factors, such as syntactic and semantic aspects of language, but also the contents of the material proposed and the attention required by the test situation.

Adult↗
PubMed1989

Infarct of the anterior limb of the right internal capsule causing left motor neglect: case report and cerebral blood flow study.

A sixty-nine year old hypertensive man had left motor neglect following an infarct of the anterior limb of the right internal capsule. He also had left auditory extinction on verbal dichotic listening and a sligh constructional apraxia. Regional cerebral blood flow (CBF) was measured at rest with Xenon 133 inhalation and was found to be slightly decreased in a diffuse fashion. Motor activation of the right hand resulted in an increase of CBF in the contralateral superior rolandic area, whereas no such increase was found during motor activation of the left hand. This lack of cortical CBF increase on contralateral motor activation is interpreted as a consequence of the failure of some corticosubcortical connexions involved in motor arousal. The specifically dynamic appearance of regional CBF abnormalities, i.e. during selective activation as opposed to rest measurements, is consistent with the functional character of neglect.

Aged↗