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Biomedical subjects

J Pouget

Publications and source records attributed to J Pouget.

194 records · Page 11Linked to original sources
PubMed1980

[Congenital muscular dystrophy].

Four patients with typical signs of congenital muscular dystrophy (C.M.D.), as described in the literature, are reported. In two young sisters born from consanguineous parents the presenting signs were severe congenital hypotonia in one and hypotonia with arthrogryposis in the other. The two other cases were adult patients with a long standing disease, the onset haring been marked by a transient neonatal hypotonia in one and by a congenital torticollis in the other. All 4 patients had progressively increasing muscle retractions, with absent reflexes in three. C.P.K. was moderately increased in all patients. Electromyography demonstrated myopathic abnormalities in 3 cases, associated in 2 cases with misleading pseudo-neurogenic signs. MUscle biopsy showed non specific changes compatible with muscular dystrophy: fibrosis and/or fat involution was marked in all cases, while necrosis of fibers was rarely observed. Histoenzymology and morphometry confirmed the absence of lesion specificity and their results were variable from case to case. A review of 92 published cases demonstrated that the course of the disease is very variable. A fatal outcome occurs in 15% of cases, while the affection becomes worse or remains stable with about the same frequency. A progressive worsening of muscle retractions is a characteristic finding in C.M.D. Genetically, most cases are of recessive autosomic. The current nosology of C.M.D. is probably inadequate, the clinical picture including cases that are likely to be due to different mechanisms that 2 present methods of investigation cannot demonstrate.

Adult↗
PubMed1976

[Stark-Kaeser type of chronic scapulo-peroneal amyotrophy. Apropos of 10 cases].

The authors described 10 cases of scapulo-peroneal amyotrophy of spinal origin of the Stark-Kaeser type. The main characteristics are a frequently dominant autosomal heredity, onset in the muscles of the legs, scapulp-peroneal weakness and amyotrophy with extension sometimes to the bulbar muscles, areflexia without sensory disturbances, an electromyogram of the neurogenic type with a normal conduction rate, neurogenic histological aspects with normal peripheral nerve. It does not usually result in severe disability. This syndrome is related to the scapulo-peroneal or facio-scapulo-peroneal myopathies and the scapulo-peroneal neuropathies. The problem of the boundaries between these disorders and their association does not alter the fact that the concept of spinal amyotrophy of the Stark-Kaeser type should be kept as a reference group.

Adult↗
PubMedDate not supplied

Hypothesis: low Na/K-ATPase activity in the red cell membrane, a potential marker of the predisposition to diabetic neuropathy.

OBJECTIVES: The development of diabetic complications does not depend entirely on diabetes duration and control. Predisposing and aggravating factors, either constitutional or environmental, seem to play a role. We have previously observed that polyneuropathy is more frequent, of earlier onset, and more severe among North African insulin-dependent diabetic patients than among Europeans matched for sex, duration and control of diabetes. The Na/K-ATPase activity displays sex and ethnic differences and a dysfunction of this enzyme is probably involved in the pathogenesis of diabetic neuropathy. We have therefore postulated that the predisposition of some diabetic patients to develop a polyneuropathy could be related to a low Na/K-ATPase activity. DESIGN: Red cell membrane Na/K-ATPase activity was studied in European men presenting with insulin-dependent diabetes mellitus for more than 15 years. 10 patients with neuropathy were matched to 10 patients void of neuropathy on duration of diabetes and HbA1c values. Thirteen healthy European men and 13 North African men born and living in France were also studied. RESULTS: Na/K-ATPase activity was lower in patients with neuropathy (200 +/- 31 vs 289 +/- 42 nmol Pi.mg protein-1.h-1 mean +/- SD; p less than 0.05). When compared to that of 13 European healthy men, Na/K-ATPase activity was lower in the whole group of diabetic patients but appeared to be in the normal range for patients without neuropathy and decreased in those with neuropathy. The 13 North African healthy men had lower values than the European healthy men (227 +/- 46 vs 298 +/- 60 nmol Pi.mg protein -1.h-1, p less than 0.05). CONCLUSION: Red cell membrane Na/K-ATPase activity is low in insulin dependent patients with neuropathy compared to those without neuropathy. This finding probably reflects a constitutional difference. This association could be explained if red cell and nerve membrane Na/K-ATPase abnormalities behave similarly according to glycaemic control in diabetic subjects. It is suggested that the predisposition to neuropathy of North African insulin-dependent diabetic patients may be related to lower Na/K-ATPase activity. A high level of activity of this enzyme may protect from diabetic neuropathy. This enzyme activity could be a marker of predisposition towards diabetic polyneuropathy.

Adult↗
PubMedDate not supplied

[Peripheral neuropathy and cyclosporin. Apropos of 2 cases].

We report two cases of peripheral neuropathy arose during treatment with cyclosporine. The first observation was in a 24 year-old female treated because of a recent diabetes mellitus, the second in a 52 year-old male whose treatment was given after a cardiac transplantation. Chronology, clinical presentation and morphological findings on nerve biopsy were very close in both cases ans intrinsic imputability was stated as "possible" according to the method used to assess unexpected or toxic drug reaction by the French Regional Drug Monitoring Centers. It remains to confirm with similar reports the putative part played by cyclosporine as strongly suggested in ours.

Adult↗
PubMedDate not supplied

[Cauda equina syndrome with plantar perforating ulcer and neurogenic osteoarthropathies in a case of rheumatismal pelvospondylitis].

The authors report a case of ankylosing spondylitis complicated by a cauda equina syndrome presenting with a plantar perforating ulcer and lesions of neuropathic arthropathy of the foot. On the basis of an analysis of 54 cases published in the literature they review the principal aspects of this complication of ankylosing spondylitis. Neurological manifestations occur late after several decades of progression of the disease. Urinary sphincter problems are common whilst trophic disturbances remain rare. Myelography and, above all, lumbar CAT scan reveal characteristic and stereotyped anatomical lesions: widening of the dural sac in its posterior part with meningoceles eroding the posterior vertebral arch. The pathogenic mechanisms are unknown. The authors suggest that lesions may start with posterior epidural inflammation rather than a primary process of arachnoiditis as has been mentioned in earlier publications.

Aged↗
PubMedDate not supplied

CT of primary muscle diseases.

Seventy-five patients with a variety of muscular dystrophies were studied using computed tomography (CT). At least 11 slices were taken in each patient, from the forearm to the lower leg. Sufficient information was obtained to provide some CT characteristics of several dystrophies, including Duchenne muscular dystrophy, facioscapulohumeral syndrome, limb-girdle muscle myopathies, and myopathic dystrophies. CT promises to be of increasing value in these areas in the future.

Adolescent↗
PubMedDate not supplied

[Late-onset multiple sclerosis and serum monoclonal gammopathy: an incidental association?].

Four patients older than 45 years with a central nervous system demyelinating disease associated to a monoclonal gammopathy are reported. The neurologic disease met the diagnostic criteria of multiple sclerosis, with the particularity of a late onset. Monoclonal paraproteinemia was also present in the cerebrospinal fluid, associated with an intrathecal immunoglobulin synthesis. The clinical data and the course of the disease were comparable to the previous reports of late onset multiple sclerosis. A causal link between the dysglobulinemia and the neurological disease may not be demonstrated. However, such an association may underline the role of humoral processes in multiple sclerosis.

Age Factors↗