[Implication of platelet-activating factor receptor A224D mutation in susceptibility to relapsing-remitting multiple sclerosis: A Tunisian population study]. / Implication de la mutation A224D du récepteur de facteur activateur des plaquettes dans la susceptibilité à la forme rémittente de la sclérose en plaques : étude d'une population tunisienne.

AIM OF THE STUDY: Platelet-activating factor interacts with its specific receptor and mediates leucocytes transmigration into central nervous system and expression of HLA molecules on antigens-presenting cells. These features are the major characteristics of multiple sclerosis pathology. In the present study, we investigated the role of platelet-activating factor receptor A224 mutation in the susceptibility to relapsing-remitting form of MS in a Tunisian population. PATIENTS AND METHODS: Forty-seven multiple sclerosis patients and 72 healthy controls were genotyped for platelet-activating factor receptor A224D mutation using polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: We used three models of inheritance: the codominant, dominant and recessive models. Our results showed a predisposing effect of platelet-activating factor receptor 224D variant on susceptibility to relapsing-remitting multiple sclerosis (30% vs 48.1%, OR [IC 95%]=2.04 [1.04-3.99], P=0.023). Our results were also consistent with a dominant model of inheritance when comparing mild genotype (AA) with carriers of one or two copies of mutant allele (AD+DD) (55.7% vs 31.9%, OR [IC 95%]=2.92 [1.34-6.81], P=0.006). No effect of this mutation was shown when considering the age at disease onset, disease severity or gender. CONCLUSION: This first study reports an implication of platelet-activating factor receptor A224D mutation in the susceptibility to relapsing-remitting multiple sclerosis in Tunisian population. Further studies will be necessary to confirm the dominant role of PAFR A224D mutation and to elucidate the effect of this mutation on platelet-activating factor/platelet-activating factor receptor pathways.

[Cerebral venous thrombosis: Prospective etiological study of 26 Tunisian patients]. / La thrombose veineuse cérébrale : étude étiologique prospective de 26 patients tunisiens.

PURPOSE: The aim of the present study is to provide a clinical and etiological analysis of cerebral venous thrombosis (CVT) in the Tunisian population. METHODS: This is a prospective monocentric study including 26 patients referred to the Neurology Department of the Military Hospital of Tunis between January 2005 and January 2008. The diagnosis of CVT was confirmed in all patients by magnetic resonance imaging (MRI) and angiography. The clinical and biological risk factors of cerebral venous thrombosis were analyzed. The average follow-up was 18 months (range six to 30). The outcome was assessed clinically with the modified Rankin scale and with MRI. RESULTS: Mean age was 38.26 years, predominantly females (sex-ratio 4.2). The clinical onset was acute in 88.46% of the cases. Headache was the most common inaugural sign (84.6%). Lateral and superior longitudinal sinuses were the most commonly involved with equal frequency (61.53%). Parenchymal lesions were frequently noted (77%), especially hemorrhagic infarcts (46.15%). The causes of CVT were variable and usually combined (85%). Specifically, thrombophilia and obstetric-gynecological causes were predominant with a prevalence of 61.5 and 42.3%, respectively. Septic causes (38.46%) are also frequent, mainly oral infections (27%). Outcome was favorable in 77% of patients given heparin therapy, followed by oral anticoagulants and antibiotics as needed. CONCLUSION: Our Tunisian population presented distinct clinical features compared with previous studies, including a high frequency of thrombophilia and gyneco-obstetrical disorders as well as infectious causes.

Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies.

Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGE) that account for about 5-10% of all types of epilepsies. The first putative locus termed EJM1 is on the human leucocyte antigen (HLA-II) region of chromosome 6p21.3. Interestingly, the EJM1 region includes the Transporter associated with antigen processing 1 (TAP-1) gene encoding the TAP-1, and previous studies have reported associations between HLA-II polymorphisms and different types of epilepsy. In this study, we report an association between two TAP-1 functional polymorphisms the I333V and the D637G and most common IGE in Tunisian population, but we fail to find significant results in Caucasian with JME.

[The ABO system polymorphism in Tunisian blood donors]. / Polymorphisme ABO dans une population de donneurs de sang tunisiens.

The present survey was carried out in the Military Center of Blood Transfusion from January 1998 to December 2001. 63,375 blood donors were concerned coming from different regions of Tunisia. Gene frequencies were found as follows: O = 0.686, A = 0.196 and B = 0.120. Important variations are observed between different regions of the country. The comparison with other countries' results traces the history of the Tunisian population, Tunisia being a strategic point in the Mediterranean region.