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Biomedical subjects

M Ben Hamida

Publications and source records attributed to M Ben Hamida.

At least 91 records · Page 5Linked to original sources
PubMed1987

Pyrimidine pathways enzymes in human tumors of brain and associated tissues: potentialities for the therapeutic use of N-(phosphonacetyl-L-aspartate and 1-beta-D-arabinofuranosylcytosine.

The activities of aspartate transcarbamylase (de novo pyrimidine biosynthesis pathway) and of deoxycytidine kinase as well as deoxycytidine deaminase (salvage pyrimidine biosynthesis pathway) were determined in extracts prepared from 40 brain tumors of different types in comparison with extracts from normal nervous tissues. Aspartate transcarbamylase, which is undetectable in normal brain tissue, is present in all tumor samples and in some cases rises to very high activities. Deoxycytidine kinase activity is present in all tissues but its level is generally higher in tumors. Deoxycytidine deaminase is present in all the tissues which were analyzed, although its activity is lower in some of the tumor samples. 1-beta-D-Arabinofuranosylcytosine is a substrate for both deoxycytidine kinase and deaminase in all the samples used except one. These results suggest some potential for the utilization of 1-beta-D-arabinofuranosylcytosine and N-(phosphonacetyl)-L-aspartate in the treatment of brain tumors.

Aspartate Carbamoyltransferase↗
PubMed1987

[Multiminicore disease in a rigid spine syndrome].

The case of a 15 year-old girl, who had difficulties in walking from early childhood is reported. The clinical picture was that of the rigid spine syndrome, spine rigidity being associated with retractions and diffuse amyotrophy of the upper limbs. Histochemical and ultra-structural studies of the muscle showed typical multiminicores. The multiminicore myopathy has not particular clinical features. In the rigid spine syndrome various histological changes can be found. For these reasons, we think that the rigid spine syndrome should be classified within the group of congenital myopathies.

Adolescent↗
PubMed1986

[Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence].

The genetic analysis of 101 genealogical trees of families with spinocerebellar heredo-degeneration enabled the authors to specify the transmission inheritance for each clinical type. Autosomic recessive transmission has been observed for Friedreich's ataxia (68 out of 69 families), Pierre-Marie's heredo-ataxia (15 families) and familial spastic paraplegia (2 families). A dominant mode of transmission has been observed in 13 families affected by familial spastic paraplegia (Strumpell-Lorrain) and in only one family with Friedreich's ataxia (an intermediate or incomplete form). It has also been observed that the consanguinity rate among this group of families is very high compared with that of the general tunisian population (25%). Marriage between cousins occurs in 75% of the cases of Friedreich's ataxia, in 78% of the cases of Pierre-Marie's heredo-ataxia and in only 61% of familial spastic paraplegia of Strumpell-Lorrain. The authors have come to the conclusion that the recessive autosomic transmission of the spino-cerebellar heredo-degenerative diseases are closely related to a high consanguinity rate.

Cerebellar Diseases↗
PubMed1984

[Fragile X and autistic mental retardation].

Indeed 1 to 6% of the mental defects are corresponding to the type described by H. Renpenning et al. (1962): long narrow face, bad hem of outturned large ears, blue pale irides; macro-orchidism; mental retardation, quietness, and language's primary defect. 5-60% of their free-folic acid cultured (G.R. Sutherland, 1977) venous lymphocytes show a recessive fragility of the X long arms, in or between q27-28 bands (H. A. Lubs, 1969). It is more difficult to find this chromosomal abnormality among female carriers, even if not too much aged. Only some of these cases (W. T. Brown, 1982) do autistic psychoses, whose origin or expression is the mental defect. We relate two personal cases of it - besides with a large span, as in the so-called "normal" case related by M.G. Daker (1981).

Adult↗
PubMed1984

[Charcot's disease and juvenile amyotrophic lateral sclerosis].

The authors studied 102 clinical observations of patients presenting the symptoms of amyotrophic lateral sclerosis (Charcot's disease). Two distinct groups were discerned from an analysis of the ages of onset: the first group, comprising 20 patients, represents the juvenile form, with onset before the age of 30. The second group (82 patients) represents the classic form of Charcot's disease. Generally speaking, the adult group is identical to that reported in the literature since Charcot first described amyotrophic lateral sclerosis. The incidence is greater in males. Hyperproteinorachia is frequent. No local etiologic cause has been identified. The apparent incidence of the disease in the regions of Tunis and Nabeul is 0,45 per 100 000 inhabitants per year. The juvenile form is characterized by a relative frequency of the familial form (30 p. 100), a possible association with particular sensory symptoms, and a slow evolution. Hypoproteinorachia is relatively frequent. The authors discuss the relations between these two groups of amyotrophic lateral sclerosis. Are they two different expressions of the same disease, or are they two different diseases?

Adult↗
PubMed1983

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.

The authors reported a large study of 93 children presenting a severe form of progressive muscular dystrophy. The first clinical symptoms were noticed between 3 to 12 years. The atrophy affects, predominantly, the girdle and truncal muscles. The hypertrophy of the calves is almost consistent. The progression of the disease is severe, often like that the Duchenne type. In most of the cases, inability to walk occurs between 10 and 20 years. The serum creatine kinase activity is markedly high in the first stages of the disease. There is a necrotic regenerative pattern at muscle biopsy, associated with a marked type 1 predominance. The disease appears to be inherited as an autosomal recessive trait, with equal distribution among the two sexes. There is a marked variability in the intensity of symptoms and in the severity of the course of the disease from one sibling to another, and from one family to another. This disease is frequent in Tunisia and seems to be related to the high degree of consanguinity in this country.

Adolescent↗
PubMed1983

[Autosomal recessive severe, proximal myopathy in children, common in Tunisia].

The genetic clinical, biological and histological study in five families with a muscular dystrophy are reported. The disease appears to be progressive, affecting both sexes, beginning often in infancy, severe at least in one of the siblings and variable from one case to the other. Hypertrophy of the calves, and weakness of the limb girdle as well as the trunk is present. CPK are much increased. Muscle biopsy shows active degeneration and regeneration. The genetic transmission is suggested to be autosomal recessive. Peculiar attention is drawn to the high incidence (75 per cent) of consanguinity of these cases.

Adolescent↗
PubMed1982

[Degenerative type profile of cerebrospinal fluid electrophoresis in myopathies (author's transl)].

Normal CSF proteins electrophoresis has been compared to 74 cases of progressive muscular dystrophies : 29 cases of Duchenne type, 3 cases of Becker type, 8 cases of limb girdle dystrophies, and 34 cases of severe muscular dystrophies with autosomal recessive heredity (Duchenne like). A degenerative profile type of electrophoresis was frequent, and it is characterized by a decrease of the total proteins and an increase of pre-albumins.

Adolescent↗
PubMed1981

[Peroneal atrophy in Tunisia. Study of 70 cases, pure or associated with other heredodegenerative diseases].

Seventy cases of hereditary peripheral neuropathy of Charcot-Marie-Tooth type have been studied. One group of 40 cases from 30 families had a pure peripheral neuropathy, the other 30 from 20 families having other associated inherited nervous defects. The classification of Dyck and Lambert (1968) modified by Dyck (1975) was used, but it proved difficult to distinguish pure types and transitional forms were common. Histological criteria appeared more reliable than clinical features and were the most constant finding within a given family. In forms associated with other abnormalities a hypertrophic and a neuronal form could be distinguished but similar difficulties in classification were encountered as the mode of genetic transmission, age of onset, clinical features and nerve conduction velocity were comparable in the two groups. Discrepancies between electrophysiological and histological findings may result from examining motor nerves with the former technique and sensory with the latter. Despite subdivision there is still a sharp distinction between the various forms of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Déjerine-Sottas. The genetic pattern is complicated by the frequent association with other inherited abnormalities.

Charcot-Marie-Tooth Disease↗
PubMed1980

[Degenerative changes in cerebrospinal fluid electrophoresis recordings during spinocerebellar hereditary degenerative disorders. A study of 111 cases (author's transl)].

The authors describe the results of electrophoresis studies of 111 cerebrospinal fluids from 110 patients with various spinocerebellar degenerative diseases (58 cases of Friedreich's disease, 14 of Pierre-Marie's ataxia, 12 of Strumpell-Lorrain paraplegia, 23 cerebellar atrophies, and 4 cases of Roussy-Levy disease). The degenerative profile of the electrophoresis findings were characterized by an overall reduction in CSF proteins, an increase in pre-albumin, and a reduction in gammaglobulin, and this was noted in 82 cases (73.8 p. 100). Low levels (less than or equal to 0.17 g/l) of proteins were observed in 19 cases (17.1 p. 100), and increased pre-albumin in 43 cases (38.7 p. 100). Reduced gammaglobulin was present in 20 cases (18.0 p. 100), and the cerebrospinal fluid was normal in only 29 cases (26.1 p. 100). These modifications could result from a particular type of physiopathological process of cell degeneration in the nervous system.

Atrophy↗
PubMed1980

[Hereditary degenerative spinocerebellar diseases in Tunisia with manometric studies in bladder disorders (author's transl)].

During a survey conducted in Tunisia in 1978, 204 cases of hereditary degenerative spinocerebellar diseases were discovered among members of 117 families. The cases included 109 patients with Friedreich's ataxia, 28 with Piere Marie's heredo-ataxia, 20 with Strumpell-Lorrain's disease, and 47 with intermediary forms. The latter group included incomplete forms of Friedreich's and Pierre Marie's diseases. The onset or progression of the disease was linked to a febrile episode in 25 p. cent of the cases. Emphasis is placed on the presence of bladder sphincter disorders in approximately one third of the patients with Friedreich's or Pierre Marie's diseases. Manometric studies in 17 cases demonstrated the presence of normal bladders in 4 cases, hypertonicity of the bladder in 5 patients, and hypesthesic retention-type bladders in 5 other cases. In 3 patients the disorder was difficult to classify. These results show that sphincter disorders should not constitute a criterium for exclusion of the diagnosis of spinocerebellar degeneration.

Adolescent↗
PubMed1979

[Sydenham's chorea in Tunisia: a report on 65 cases (author's transl)].

Sydenham's chorea was observed in 65 patients in Tunisia during the period 1971-1976. The average age of onset was 10.8 years, and girls were affected twice as often as boys. Sydenham's chorea is a seasonal disorder; it usually develops between the months of november and march, and its frequency is closely related to that of Bouillaud's disease. A study of the past history of infections disease or rheumatic disorder (ARF), and biological tests for inflammation (sedimentation rate, blood fibrin levels, antistreptolysins O, and culture of throat swabs), showed that it is possible to distinguish cases of true chorea occurring alone from those in which it is associated with a rheumatic affection. These facts are discussed in the light of the data published in the literature. The authors conclude that sydenham's chorea and acute rheumatic fever are but two unrelated expressions of a streptococcal infection. Anti-inlammatory treatment with corticoids, therefore, is only indicated in the presence of signs of rheumatic affection.

Adolescent↗