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Biomedical subjects

M Ben Hamida

Publications and source records attributed to M Ben Hamida.

At least 73 records · Page 4Linked to original sources
PubMed1991

Modification in the expression and localization of contractile and cytoskeletal proteins in Schwartz-Jampel syndrome.

Muscle biopsies taken from 4 patients with clinical diagnosis of Schwartz-Jampel syndrome were analyzed by enzyme-histochemical immunocytochemical and biochemical techniques. In situ distribution of the different myosin heavy chain (MHC) isoforms together with that of the cytoskeletal proteins vimentin, desmin and titin was determined in type I, type IIA, type IIB and type IIC fibers. The same muscle biopsies were analyzed for their content in myosin light chains (MLC) by two-dimensional gel electrophoresis and native myosin isoforms by pyrophosphate gel electrophoresis. The opportunity to study 4 patients of different ages, all members of the same family, permitted us to reveal several interesting features in this rare and so far poorly understood muscle pathology. (i) We observed a predominance of slow (type I) fibers in the oldest patient. (ii) Two classes of small clusters of atrophic type IIC fibers were observed. The first class corresponded to fibers which coexpressed embryonic, fetal and fast, but not slow, MHC isoforms. The fibers also displayed an abnormal distribution of desmin, vimentin and titin. The second class was composed by fibers coexpressing embryonic, fetal, fast and slow, MHC isoforms. In contrast to that observed for the first class, fibers in the second class displayed a normal pattern of expression of desmin, vimentin and titin. (iii) A familial heterogeneity was observed between the 4 patients. The pathological processes involved in the evolution of this syndrome are discussed.

Adolescent↗
PubMed1991

[Peripheral neuropathy in a sporadic case of cerebrotendinous xanthomatosis].

The authors report the case of a 22-year old man presenting with cerebrotendinous xanthomatosis who developed peripheral neuropathy. Nerve biopsy showed evidence of demyelination and remyelination, suggesting axonal degeneration. The neurological symptoms improved after treatment with chenodesoxycholic acid.

Adult↗
PubMed1991

[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias].

Based on the hereditary ataxias concepts and a large field survey, the authors analyzed 392 cases of spino-cerebellar degeneration belonging to 188 families. Two main clinical groups were identified: 227 cases of Friedreich ataxia and 74 cases of cerebellar hereditary ataxia of P. Marie type. The association in the same patient of peroneal atrophy of Charcot Marie type with Friedreich ataxia (17 cases) or P. Marie cerebellar hereditary ataxia (13 definite cases and 13 probable) was the most striking finding. "Forme fruste", incomplete form or complex form of Friedreich ataxia were present in some families while in some others there was spastic paraplegia or pure Charcot Marie Tooth disease. This clinical heterogeneity in families of spino-cerebellar degeneration is discussed.

Cerebellar Ataxia↗
PubMed1991

[Clinical and electrophysiological study of 2 familial cases of Marcus Gunn phenomenon].

Two cases of jaw-winking synkinesia or Marcus Gunn (MG) phenomenon are reported, with electromyographic and genetic studies. In the first patient a right eyelid ptosis which had been occurring since birth was associated with a bilateral MG phenomenon confirmed by electromyography. An examination of other family members revealed 3 other cases in the mother's family. The second patient had a congenital left eyelid ptosis associated with an MG phenomenon. His maternal uncle and his mother also had this "jaw-winking" synkinesia. The authors discuss the physiopathology of this complex phenomenon up to now without known neurological lesions. Concerning the genetic aspect of the MG phenomenon, they conclude that in their patients the hereditary pattern was that of an incomplete autosomal dominant trait with varied expressivity in the two families.

Adolescent↗
PubMed1991

[Schwartz-Jampel syndrome. Clinical and histopathological study of 4 cases].

Four cases of Schwartz-Jampel syndrome are reported. Clinical manifestations began in infancy with slowly progressive bone deformities, dwarfism and prominent myotonia. All patients were issued from 2 families with consanguineous healthy parents. Three among them belonged to the same sibship. Present evidence favors a recessive mode of inheritance. Nerve biopsy was normal. Muscle biopsy showed dystrophic changes with streaming of Z-lines in all four cases. Mitochondria were greatly swollen. Glycogen particles were present in the spaces between the affected myofibrils and in the swollen mitochondria. These data showed that the nerve was preserved and that the disease affected mainly voluntary muscle.

Child↗
PubMed1990

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.

Forty-three patients with hereditary motor system diseases belonging to 17 families were studied. The clinical features consisted of a bilateral pyramidal syndrome, weakness with atrophy and fasciculation of the hands and/or the legs, with or without a bulbar or a pseudobulbar syndrome and without sensory disturbance. Electromyography in 31 cases (including all index cases) showed evidence of denervation. Motor and sensory nerve conduction velocity was normal; sensory nerve action potential amplitudes, examined in 11 cases, were also normal. Nerve and muscle biopsies taken in 29 cases (including all index cases) showed neurogenic atrophy in the peroneus brevis muscle and minor changes only in the superficial peroneal nerve. The mean age of onset was 12.06 (range 3-25 years), and progression was very slow. Inheritance appeared to be autosomal recessive. Depending on the clinical presentation, the patients were subdivided into three groups comprising (1) upper limb and sometimes bulbar amyotrophy with a bilateral pyramidal syndrome (17 patients: 11 familial and 6 isolated); (2) spastic paraplegia with peroneal muscular atrophy (14 patients: 11 familial and 3 isolated); and (3) a spastic pseudobulbar form (12 patients in a large kinship). These entities are discussed and compared with other cases reported in the literature.

Adolescent↗
PubMed1990

Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.

We describe a large kindred of 6 patients with a slowly progressive autosomal recessive form of giant axonal neuropathy (GAN). The propositus presented with progressive infantile onset of distal amyotrophy of 4 limbs, brisk reflexes, diffuse fasciculations, bulbar signs, and deep sensory loss in both lower limbs. The EMG and nerve biopsy showed typical hypertrophic neuritis. In 4 patients, there were giant axons filled with neurofilaments, with normal conduction velocity. In the youngest boy, the neurologic deficit was less severe, and the nerve biopsy revealed only a few unmyelinated axons filled with neurofilaments. These cases appear to represent a different genetic defect from other reported cases of GAN.

Adult↗
PubMed1990

[Opto-chiasmatic tuberculoma disclosed by unilateral exophthalmos. Clinico-pathologic study].

We report the clinico-pathological case of a 3 year-old boy who presented with progressive unilateral exophthalmos for 6 months. There was a tuberculous meningitis and at post mortem examination an opto-chiasmatic tuberculoma with features of chronic inflammation, epithelioid cells, giant cells and a tuberculoma in the left insula with features of acute inflammation.

Child, Preschool↗
PubMed1990

[Epidemiologic aspects of cerebrovascular accidents in Tunisia].

We report the results of 3 epidemiological studies of stroke in Tunisia. In Tunis urban population, the crude annual incidence rate of stroke has been estimated at 0.54/1,000 and the prevalence rate at 6 to 14/1,000. The incidence rate adjusted to population at risk (greater than or equal to 45 years old), is around 1.92/1,000. A door-to-door survey conducted in Kelibia, according to a WHO protocol, showed a prevalence rate of 7.2/1,000 when adjusted to population at risk. CT diagnosed infarction and haemorrhage and excluded non-stroke cases (10 p. 100). Cerebral haemorrhage was more frequent than in other published studies (28 p. 100).

Adolescent↗
PubMed1989

[2 cases of vascular syndrome of the cranial nerves of ischemic origin].

The authors report the cases of two patients who had sudden unilateral alternating and regressive attacks of the cranial nerves. The first patient, a 63 year old diabetic woman, suffered regressive paralysis of the right third nerve, followed two months later by paresthesia of the same side of the face, accompanied by difficulty in swallowing and dysarthria. Six months later, she developed a right facial paralysis while pharyngeal and lingual involvement entirely disappeared. Right carotid angiography revealed stenosis of the middle meningeal artery. Nine months later she developed left-sided ophthalmoplegia followed by a homolateral facial paralysis. The second patient, a 24 year old woman, developed homolateral regressive attacks of the II, V, VII and VIIb, and VIII nerves during recovery from herpes zoster of the right geniculate ganglion. Doppler studies showed inversion of the flow in the right ophthalmic artery. The pathogenesis of these multiple paralyses of the cranial nerves is discussed, a possible cause being ischaemic attacks of the vascular territories of the cranial nerves.

Adult↗
PubMed1989

[Septicemia in patients undergoing chronic hemodialysis].

Between March 1982 and March 1986, 11 out of 72 patients (15%) undergoing chronic hemodialysis in a Tunisian hemodialysis unit developed septicaemia. The causative organism was a staphylococcus aureus in 8 patients, and the main portal of entry was the dialysis catheter (6/8). Septic pulmonary metastasis were observed in 3 cases. REmoval of the dialysis catheter and antibiotic therapy led to recovery in 7 cases. The 4 fatalities were attributed to respiratory failure in 3 cases and septic shock in one case. These results indicate that the prognosis of septicaemia in hemodialysis patients is poor.

Adult↗
PubMed1988

[Chronic proximal spinal amyotrophies in Tunisia. Clinical, genetic, epidemiologic and histopathologic study].

The results of a clinical, pathological, genetic and epidemiological study of 101 cases of chronic proximal spinal muscular atrophy are reported. Ages at onset allow to distinguish clearly an infantile, a juvenile and an adult groups. The infantile and juvenile groups comprising 93 p. 100 of the patients, were characterized by onset before the age of 20 (54 p. 100 before age 5) and by a large intra- and interfamilial clinical variability. The severity of the disease was unrelated either to sex or the sporadic or familial nature of the disease. On the other hand it was closely related to age at onset and to the pathology of the muscles. There seems to be no genetic heterogeneity in this group. Inheritance is of the autosomal recessive type in the great majority of cases. Certain sporadic cases may be due to a dominant mutation or to a phenocopy, as suggested by segregation analysis. The adult group, comprising 6 patients, included 4 cases of autosomal dominant inheritance without consanguinity of the parents, and one case of dominant inheritance.

Adolescent↗
PubMed1987

Hypertrophic neuropathy in spinocerebellar degeneration. Morphological study of the superficial peroneal nerve in fourteen cases.

Fourteen patients belonging to eight families were studied. At least one member of each family presented a clinical picture of spinocerebellar degeneration (SCD) and lowered motor nerve conduction velocity (MNCV). Muscular atrophy of the Charcot-Marie-Tooth type was found in 11 cases. The average MNCV of the median nerve was less than half the value in the controls (P less than 0.001). Morphometric analysis of the superficial peroneal nerve showed a considerable reduction (P less than 0.001) in myelinated fibres, primarily those of large diameter (P less than 0.001), a high average density of onion bulb formations, and a large percentage (P less than 0.001) of teased fibres showing aspects of segmental demyelination, with or without remyelination. These results indicate the presence of a hypertrophic neuropathy (HN) associated with the SCD. In most cases, this HN bore the electrophysiological and morphological features of type I hereditary motor and sensory neuropathy. In certain cases, however, there was an individual and intra-familial discordance of the electrophysiological and histological aspects, which may correspond to a difference in phenotypic expression, or to mutant genes. It is possible that a single disease is involved, assuming the clinical appearance of both SCD and HN, the biochemical support of which remains to be determined.

Adolescent↗
PubMed1987

Morphometric study of the sensory nerve in classical (or Charcot disease) and juvenile amyotrophic lateral sclerosis.

Analysis of the superficial peroneal nerve sampled in 9 cases of classical amyotrophic lateral sclerosis (classical ALS, Charcot disease) and compared with 8 age-matched controls showed a very significant reduction of all myelinated fibres (P less than 0.001), affecting small-diameter (P less than 0.01) and large-diameter (P less than 0.02) fibres. Moreover, the small-diameter unmyelinated fibres were very significantly reduced (P less than 0.001) and the large-diameter fibres were highly increased (P less than 0.01). These results suggest a phenomenon of chronic axonal degeneration. Analysis of the same nerve in 7 patients suffering from juvenile ALS and compared with 4 age-matched controls showed a significant reduction (P less than 0.05) of myelinated fibres. The small-diameter and overall unmyelinated fibres were not significantly reduced while the large-diameter fibres, were significantly increased (P less than 0.01). The same analysis of 4 patients presenting an early-onset ALS compared with 3 controls showed lesions of a severity half-way between that of the classical and the juvenile form. Our study showed that the lesions of the sensory nerve are of the same type in classical ALS and in juvenile ALS, but of differing severity. The nosologic place of juvenile ALS compared with classical ALS and with heredodegenerative diseases of the nervous system is discussed.

Adolescent↗