Biomedical subjects

Amel Mrabet

Publications and source records attributed to Amel Mrabet.

6 recordsLinked to original sources

PubMed2005

[Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases].

This is a retrospective study about 49 cases of xeroderma pigmentosum (XP). The goal was to determine the clinical features of XP in Tunisia. Our study revealed the predominance of a moderate form. Malignant skin tumors showed early. Squamous cell carcinoma (SCC) remainsed the most frequent skin malignancy in all clinical forms. Neurological abnormalities were more frequent in the moderate form. Mental retardation and peripheral neuropathy were the most common signs.

Adolescent↗

PubMed2004

Health-related quality of life of people with epilepsy compared with a general reference population: a Tunisian study.

PURPOSE: The goal of the study was to assess the health-related quality of life (HRQOL) of persons with epilepsy (PWE) by using the short form survey 36 (SF-36), to compare it with that of a control group and to detect factors influencing it. METHODS: We collected clinical and demographic data and information on health status by using the Arabic translation of the SF-36 questionnaire from two groups: (a) 120 PWE consulting our outpatient clinic during a period of 4 months, and (b) 110 Tunisian citizens, representative of the Tunisian general population, as a control group. RESULTS: The mean age of PWE group was 32.74 years, and 45.5% were men. Idiopathic generalized epilepsies were observed in 44.5% of cases, and symptomatic partial epilepsies, in 30%. The most commonly prescribed drug was sodium valproate (VPA). For the SF-36, PWE had lower scores than the control group for only three subscales: general health perception, mental health, and social functioning. Seizure frequency, time since last seizure, and the antiepileptic drug (AED) side effects were the most important variables influencing the HRQOL among PWE. Seizure-free adults have HRQOL levels comparable to those of the control group. Sociodemographic variables had no influence on the SF-36 subscales. CONCLUSIONS: HRQOL is impaired in Tunisian PWE. The influencing factors identified in this study differ from the previously published data. Several possible reasons such as family support and cultural and religious beliefs are proposed to explain these cross-cultural differences. A larger study should be conducted to verify such findings.

Adolescent↗

PubMed2004

[Mesial temporal lobe epilepsy. Nine case reports].

INTRODUCTION: Mesiotemporal epilepsy (MTLE) is a clinical syndrome characterised by the association of a history of febrile seizures, a homogenous clinical presentation of seizures, temporal interictal and ictal EEG recordings and an underlying pathology that is mesial sclerosis. MTLE is the most common type of medically intractable partial epilepsy with a drug-resistance in 90% of cases. OBJECT: The aim of this study is to describe the clinical, EEG and MRI findings of 9 patients with MTLE attending the outpatient clinic of Charles Nicolle Hospital. RESULTS: The median age of our study population was 30 years. A history of febrile seizures was found in 5 patients. Hippocampal atrophy was found in all the cases right in 4 cases and left in 5 cases. Drug-resistance was observed in 7 patients. No patient underwent surgery. CONCLUSION: It is important in front of medically intractable partial epilepsy to evoke MTLE, to confirm the diagnosis with neuro-imaging and to propose an interdisciplinary therapeutic approach including neurologists, epileptologists and neurosurgeons.

Adult↗

PubMed2002

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy common in Finland and North Africa, and less common in Western Europe. ULD is mostly caused by expansion of a dodecamer repeat in the cystatin B gene ( CSTB) promoter. We performed a haplotype study of ULD chromosomes (ULDc) with the repeat expansion. We included 48 West European Caucasian (WEC) and 47 North African (NA) ULDc. We analysed eight markers flanking CSTB(GT10-D21S1890-D21S1885-D21S2040-D21S1259- CSTB-D21S1912-PFKL-D21S171) and one intragenic variant in the CSTB 3' UTR (A2575G). We observed a founder effect in most of the NA ULD patients, as 61.7% of the NA ULDc (29/47) shared the same haplotype, A1 (1-1-A-1-6-7), for markers D21S1885-D21S2040-A2575G-D21S1259-D21S1912-PFKL. Moreover, if we considered only the markers D21S1885, D21S2040, A2575G and D21S1259, 43 of the 47 NA ULDc shared the same alleles 1-1-A-1, haplotype A. As previously shown, the WEC ULDc were heterogeneous. However, the Baltic haplotype, A3 (5-1-1-A-1-1), was observed in ten WEC ULDc (20.8%) and the CSTB 3'UTR variant, which we called the Alps variant, was observed in 17 ULDc (35.4%). Finally, as almost all NA patients, like Scandinavian patients, were of the haplotype A, we assumed that there was an ancient common founder effect in NA and Baltic ULD patients. We estimated that the putative most recent common ancestral ULD carrier with this haplotype A must have existed about 2,500 years ago (100-150 generations). Finally, this work provides evidence for the existence of only a small number of founder mutations in ULD.

3' Untranslated Regions↗

PubMed2002

[Cerebral venous thrombosis and Behcet's disease].

Behcet's disease is a chronic relapsing multisystem disorder of unknown etiology. Neurological complications are frequent, occurring in 10 to 49% of cases. We report 4 cases with Behcet's disease (3 females and 1 male) who had symptomatic intracranial hypertension due to cerebral venous sinus thrombosis within a mean delay of 2 years. The mean age at onset was 31 years and the mean age on referral was 39.5 years. The predominant manifestation in our series were headache, papilledema, seizures and pyramidal syndromes. CT Scan showed non specific abnormalities in all of them and the sinus venous thrombosis was confirmed by MRI in 3 cases. The authors emphasize on the importance of MRI with angio MRI for the diagnosis, the outcome and the evaluation of the cerebral venous thrombosis after treatment.

Adult↗

PubMed2002

[School failure and epilepsy: a case-control study].

School difficulties and educational inadequacy usually correlate with the child's epilepsy. The target of our study is to discover the most precocious possible the epilepsy and to prevent educational failure in the population of children from 6 to 15 years old. We have carried out a retrospective study on 162 children of an educational age. This population was made up of 100 epileptic children followed over a period of 3 years (1995-1997) and a witness group made up of 62 children selected from brothers and sisters of the study group, with the same sex in default of the opposed sex who are educated. We have noted that at the same age between children from the group of study and children from the witness group. The class of study was significantly inferior in the group of study: the educational average class is 4th against 5th in the witness group P = 0.11. The difference was about one year. The difference of educational results was significant. For the last educational year, the educational mark was 8.99/20 in the group of study against 12/20 in the witness one. P < 10-5. For the last educational semester, the educational mark was 9.5/20 in the group of study against 11.9/20 in the witness group. (P = 3 x 10(-4)).

Adolescent↗