Search PubMed⌕ Search

Biomedical subjects

A Mrabet

Publications and source records attributed to A Mrabet.

44 records · Page 3Linked to original sources
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↗
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↗
PubMedDate not supplied

Prevalence of epilepsy in Kelibia, Tunisia.

A door-to-door survey was made in Kelibia, Tunisia to determine the prevalence of major neurologic disorders, including epilepsy. The survey was made according to a World Health Organization (WHO) protocol (1981). All individuals responding positively to the screening tool were examined by a neurologic team using well-defined diagnostic criteria. One hundred forty-one individuals, alive on prevalence day (July 1, 1985), were identified as having active epilepsy, giving a crude prevalence ratio of 4.04 per 1,000 and an age-adjusted (on WHO population) prevalence ratio of 3.64 per 1,000. Prevalence ratios increase with age (in children and young adults with the highest prevalence ratio at approximately 20 years) and decrease after 40 years. The most frequently identified type was generalized convulsive seizures (93%). The most frequently associated conditions were cerebral palsy and mental retardation.

Adolescent↗
PubMedDate not supplied

Childhood diabetic neuropathy: a clinical and electrophysiological study.

Clinical diabetic neuropathy in childhood is rare, but electrophysiological involvement of the peripheral nerve is more frequent. We assessed clinically and electrophysiologically the peripheral nervous system of 69 children and adolescents suffering from diabetes mellitus (DM). The mean age of the patients was 12.8 years and the mean age at onset of DM was 6.8 years with a mean disease duration of 6.3 years. Seven patients (10%) had clinical neuropathy of which ankle jerk reflex abolition was the most frequent sign. Twenty patients (29%) had a neurophysiological neuropathy prevalently affecting the lower limbs. Peripheral neuropathy was correlated with patient age, older age at onset, duration of DM, height and poor glycaemic control.

Action Potentials↗