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J Pouget

Publications and source records attributed to J Pouget.

At least 145 records · Page 8Linked to original sources

[Immunocytochemical study of the inflammatory forms of facioscapulohumeral myopathies and correlation with other types of myositis].

The inflammatory forms of facioscapulohumeral myopathies are rare. In a series of 52 cases, six patients had these types. Only four cases could be investigated with immunochemical staining (immunoperoxidase). Monoclonal antibodies reactive for B cells, T4 cells, T8 cells, natural killer cells were used for cell typing. Macrophages were identified by the acid phosphatase reaction. Nine muscles have been used as controls: 3 normal muscles, 3 polymyositis and 3 dermatomyositis. In all these inflammatory myopathies T cells were the most abundant cells. NK cells were rare. In inflammatory FSH-D and in polymyositis the infiltrates were principally endomysial, whereas T8 lymphocytes were more abundant than T4 lymphocytes; it was the contrary in the perivascular and perimysial sites of accumulation. In dermatomyositis the infiltrates were especially perivascular. In this site of accumulation T4 was twice abundant than T8, B cells and macrophages were also very abundant. In the endomysium the T8 cells were more numerous than T4 cells. It seems that the inflammatory forms of FSH-D should be considered as an inflammatory myopathy. In these forms a polymyositis should be associated with the dystrophy. These forms could be considered as an association of a polymyositis and a muscular dystrophy, but the circumstances of their appearance and their non-response to corticosteroid administration remain to be determined.

Adolescent↗

[Carbamazepine-sensitive neuromyotonia and Charcot-Marie-Tooth disease of the neuronal type].

Following an anti-smallpox vaccination a 17 year-old boy developed spontaneous muscular activity with cramps and fasciculations in the lower limbs. There was distal amyotrophy of the lower limbs and pes cavus. Clinical signs suggested a cholinergic hyperfunction. EMG showed a significant spontaneous activity and was neurogenic in the lower limbs. Nerve conduction velocities were consistent with axonal damage. Muscular biopsy showed aspects of chronic denervation. Neuromyotonia disappeared with carbamazepine treatment. This case can be added to the reported associations of neuromyotonia and Charcot-Marie-Tooth disease. Such cases are an additional argument for the axonal origin of neuromyotonia.

Adolescent↗

[Linkage studies in Emery-Dreifuss muscular dystrophy].

We report linkage studies between Emery-Dreifuss muscular dystrophy (EDMD) and polymorphic probes from the long arm of chromosome X in two pedigrees. The results don't show significant linkage but are consistent with previous localisation of EDMD in Xq28. Further studies will be necessary to apply molecular biology to genetic counselling and prenatal diagnosis of this disease.

DNA Probes↗

Peripheral neuropathy in myotonic dystrophy: a nerve biopsy study.

Sural nerve biopsies from 13 unselected myotonic dystrophy patients and 6 normal controls were studied morphometrically. The myelinated fiber density was reduced in 11 of the 13 myotonic dystrophy patients, with preferential loss of large myelinated fibers. Unmyelinated fiber densities and diameters were normal. Teased fiber studies commonly revealed focal areas of remyelination and abnormal wrinkling of the myelin sheath. Measurement of internodal length disclosed features of both axonal regeneration and focal demyelination-remyelination. These findings are consistent with a chronic axonopathy of moderate severity, possibly due to axonal atrophy.

Adult↗

Myotonic dystrophy: defective oxidative burst of polymorphonuclear leukocytes.

Because myotonic dystrophy (MD) is an autosomal dominant multisystemic disorder affecting plasma membrane, we have studied the oxidative burst of PMNs. The PMA and fMet-Leu-Phe-stimulated superoxide generation is defective in the patient group as compared to controls: the response is both delayed and low. The kinetic parameters of the NADPH oxidase complex are not affected. We have not found any abnormalities in the membrane potential changes. In addition, the cytosolic protein kinase C (PKC) activity of resting PMNs is similar in MD patients and controls, and the translocation of protein kinase C in response to PMA is not impaired. The decrease of the oxidative response of PMNs from MD patients may be related to an abnormality of the environment of the NADPH oxidase.

Adult↗

[X-linked bulbo-spinal neuronopathy. Kennedy's syndrome].

Kennedy's syndrome is usually classified among the progressive spinal amyotrophies. Scarce reports suggest the involvement of the peripheral nerves. Five cases are reported here with a decrease of the sensory potential amplitude. A pathological study in 4 of these cases showed lesions of the sensory nerve. The notion of neuronopathy is discussed because it underlines the physiological unity of the cellular body and of the axon and the difficulty to separate the reciprocal damage in certain pathological cases. It would be excessive to equate clinical and experimental cases in which the onset of the disease involves either the cellular body or the axon.

Adult↗

[Neuroendocrine syndrome: pseudomyopathic spinal amyotrophy with gynecomastia related to the X chromosome. Kennedy's syndrome. 3 cases].

Three new cases of X chromosome-linked spinal muscular atrophy associated with gynaecomastia are reported. They were concordant with the description given in about 15 published reports: predominantly proximal muscle weakness and atrophy, fasciculations in the face and tongue, areflexia and slowly progressive course. In two of our patients nerve biopsy showed axonal lesions. All these patients had gynaecomastia. The relationship between the neurological and endocrine syndromes is discussed, but no firm conclusion can yet be drawn.

Adult↗

[Electromyographic aspects of inclusion body myositis. Macro-electromyographic study].

Histological and electrophysiological features in cases of inclusion body myositis are often difficult to interpret, suggesting either a "myogenic" or a "neurogenic" disorder. One case of inclusion body myositis is described. Conventional needle electromyography recording was interpreted as "neurogenic": abundant fibrillation potentials and positive sharp waves, reduced interference pattern, polyphasic-high amplitude-long duration motor unit potentials. Macro-EMG was performed in quadriceps muscle. Fibre density was normal and median value of the amplitude of macro motor unit potentials was increased, suggesting a larger size of motor units. Morphologic and electrophysiologic features indicate compensatory and regeneration mechanisms resulting in an increase of motor unit during the course of inclusion body myositis. This can explain atypical electromyographic and morphologic data in this disease.

Adult↗

[Critical study of radiculomedullary and neuromuscular complications of ankylosing spondylitis].

Medullo-radicular and neuro-muscular involvements of ankylosing spondylarthritis, often reported in an analytic fashion in the literature, deserve to be the subject of a critical study. Various neurological manifestations secondary to exceptional atlo-occipital and sometimes axis-atlas subluxations and medullary lesions as well as syndromes of the cauda equina. The medullary lesions have an epidural origin (3 cases in the literature, 2 cases from the authors) or are secondary to a spondylodiscitis (4 cases in the literature) or secondary to both (1 case reported by the authors). As for syndromes of the cauda equina the authors report 3 cases to be added to the 55 published previously. It concerns always old spondylarthritis. The lesions combine posterior diverticula and lesions of the lamina. The treatment is usually ineffective. A special case is represented by forms with trophic disorders. More debatable are the radicular lesions, which, except for intercostal pain, should be linked to local pain. Electromyographic abnormalities are of no significance. Alterations of the paravertebral muscles viewed on the scanner X have, for now, an uncertain significance. Finally, various associations, without significance such as multiple sclerosis, diffuse muscular lesions and the classic spondylotic pseudo-tabes, should be rejected.

Adult↗

[Tomaculous neuropathy. A histopathological study and electroclinical correlates in 10 cases].

Among 980 sural nerve biopsies, the nerves of 10 patients showed a great number of focal sausage-shaped thickenings of the myelin sheaths and were investigated by light and electron microscopy, teasing and quantitative studies. Single teased nerve fibres revealed myelin thickening in more than 25 p. 100 of internodes. This condition defined the tomaculous neuropathy and differed from other degenerative or toxic neuropathies which displayed a small number of internodes with myelin thickenings, in less than 5 p. 100. Segmental demyelination and remyelination were found in 12 p. 100 to 65 p. 100 of myelinated fibres. Tomaculous swellings were observed in the internodes of these fibres. Except axonal constriction within the sausage-shaped thickenings, no fibers with axonal degeneration was observed. The density of myelinated and unmyelinated fibres was normal. The loss of large myelinated fibres was interpreted as resulting from the myelinic changes. Clinical and electrophysiological data were similar in the ten cases of tomaculous neuropathies and in hereditary neuropathy with liability to pressure palsies, i.e.: autosomal dominant inheritance, higher incidence in males, recurrent nerve trunck and/or brachial plexus involvement related to compression, slowing of nerve conduction velocities in clinically affected and unaffected nerves more pronounced in anatomical narrow sites and increased F wave latencies. One patient (case 10) showed a mixed sensory motor progressive neuropathy but signs of widespread neuropathy were noted in more advanced cases. A great number of tomaculous swellings of myelin sheaths is considered as a specific but non constant change of hereditary neuropathy with liability to pressure palsies.

Electrophysiology↗

[Muckle-Wells syndrome or association of joint pain attacks, urticarial outbreaks and sensory deafness?].

The Muckle and Well's syndrome corresponding to a transmission of the autosomic dominant type, combines bouts of urticaria, episodes of arthralgias to a shrinking of the ear and a sensory deafness. Sometimes, it evolves into a renal amylosis. Sometimes, as the case presented here, it combines multiple malformations. Its place in nosology is imprecise. It is, at the same time, close to systemic urticaria, sensory deafness, amylosis and specially amylosis of the periodic disease. But the common link between the various elements of the syndrome remains undetermined, for the time being.

Abnormalities, Multiple↗

[Nosological study of 25 cases of chronic monomelic amyotrophy].

The term benign monomelic amyotrophy embraces several types of juvenile amyotrophy of a limb progressing in two stages: first, constitution, then stabilization. Cases reported are in fact heterogeneous and require separation into categories. The cases presented here include: 1) true benign amyotrophy (4 cases); 2) localized forms of chronic sporadic (7 cases) or familial (2 cases) spinal amyotrophy; 3) developmental anomalies and phacomatosis (5 cases); 4) affections of inflammatory origin (4 cases); 5) cases classified as of uncertain but possibly central (1 case) or myosclerotic (1 case) origin, or with the single anomaly of type II fibres (1 case). Obviously that for differential diagnosis to be accurate diagnostic steps differ according to the site of lesions of the predominance upper or lower limbs.

Adolescent↗