Ramzi Zemni

Multiplex PCR assay for the detection of common dermatophyte nail infections

Onychomycosis is one of the most prevalent dermatophytic diseases. Mycological methods used in the conventional diagnosis may not be optimal. Multiplex (MX) PCR was reported as a reliable alternative. Dermatophyte gene sequence records were used to design a MX PCR for detection and identification of dermatophytes in nail specimens. A MX PCR method based on the amplification of the chitin synthase 1 and internal transcribed spacer genes was developed. The study included 93 strains of dermatophytes and non‐dermatophytic fungi, six dermatophytic reference strains and 201 nail specimens from patients with dermatophytic onyxis. DNA extraction directly from nail samples was carried out by using the QIAamp DNA extraction kit (Quiagen). A set of primers was designed and their specificity was assessed. MX PCR detected the causal agent in specimens from which Trichophyton rubrum and T. interdigitale grew in culture and also identified a dermatophyte species in an additional 32 specimens that were negative in microscopy and culture. None of the investigated non‐dermatophytic strains was positive. Sensitivity of MX PCR was higher as compared to mycological examination (97% vs. 81.1%). MX PCR for direct detection of dermatophytes from nail samples yielded mixed flora in 32.8% of samples. MX PCR proved sensitive and adequate for the diagnosis of dermatophytic onychomycosis. It is much adapted to cases where culture is negative or contaminated by overgrowing moulds, which makes the identification of the causal agent problematic.

Sousse: extreme genetic heterogeneity in North Africa

The male genetic landscape of the territory currently known as Tunisia is hampered by the scarcity of data, especially from cosmopolitan areas such as the coastal city of Sousse. In order to alleviate this lacuna, 220 males from Sousse were examined, for the first time, for more than 50 Y-chromosome single-nucleotide polymorphisms (Y-SNPs) markers and compared with 3099 individuals from key geographically targeted locations in North Africa, Europe and the Near East. The paternal lineages observed belong to a common set of Y haplogroups previously described in North Africa. In addition to the prominent autochthonous North African E-M81 haplogroup which is exclusively represented by its subclade E-M183 (44.55% of Y-chromosomes), a number of Near Eastern Neolithic lineages including E-M78, J-M267 and J-M172 account for 39% of the Y-chromosomes detected. Principal component analysis based on haplogroup frequencies, multidimensional scaling based on Rst genetic distances and analyses of molecular variance using both Y-chromosome short tandem repeat haplotypes and Y-SNP haplogroup data revealed that the Tunisian and North African groups, as a whole, are intra- and inter-specific diverse with Sousse being highly heterogeneous.

Lack of association between PADI4 polymorphisms and rheumatoid arthritis in the Tunisian population

Joint Bone Spine - In Press.Proof corrected by the author Available online since mercredi 28 mars 2012

Sousse, tunisia: tumultuous history and high y-str diversity

In the present study, 17 Y‐chromosomal STR (Y‐STR) loci were typed in 218 unrelated males from Sousse, Central‐East Tunisia, to evaluate forensic and population genetic applications of the data. A total of 154 different haplotypes were identified, 127 (82.5%) of which were unique, with the most frequent haplotype occurring in 14 individuals (6.4%). The locus diversity ranged from 0.2050 at DYS392 to 0.8760 at DYS385. The haplotype diversity at the 17‐loci resolution was calculated to be 0.9916, while the corresponding values for the extended (11 loci) and minimal (9 loci) haplotypes were estimated at 0.9735 and 0.9710, respectively. Comparison with 29 regional and global populations using correspondence analysis, neighbor joining (NJ) tree, and Rst genetic distance revealed that the Sousse population is highly diverse. This finding is consistent with historical data. Furthermore, the results of this study indicate a distinct genetic substructure among Tunisian populations. In conclusion, the present study demonstrated that the 17 Y‐STRs analyzed are highly informative for individual identification, parentage analysis, and population genetic studies.

Role of CYP1A1 (T6235C) polymorphism and cigarette smoking in the development of coronary heart disease in Tunisian population.

Coronary heart disease (CHD) is now the leading cause ofdeath worldwide: each year, 3.8 million men and 3.4 millionwomen die from CHD (World Health Organization 2008).The main causal risk factors of CHD include hypertension,dyslipidemia, diabetes mellitus and smoking. According tothe World Health Organization, tobacco use is the majorcause of many of the world’s top fatal diseases includingcardiovascular disease (World Health Organization 2008).Cigarette smoking can initiate atherogenesis, the major causeof developing CHD. There is evidence that mutagens suchas polycyclic aromatic hydrocarbons (PAHs) and aromaticamines found in tobacco smoke increase the development ofatherosclerotic lesions in experimental animals (Ramos andMoorthy 2005).Several reports have suggested that the metabolic acti-vation of PAHs by cytochrome P450 (CYPs), includingCYP1A1 is a necessary step for PAH-induced atheroscle-rosis. CYP1A1 is the main metabolizing enzyme of PAHs(Qiang and Lu 2007) that generates a highly electrophilicdiol-epoxide metabolite capable of creating DNA adducts(Jacquet

Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation

Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome. The results showed the presence of a double mutation in 1 patient: p.R306C and c.1461+98insA, which create a new hypothetical polyadenylation site in the 3′UTR of the MECP2 gene. We also detected in another patient a new variant c.1461+92C>G in the 3′UTR located previous to 34 bp from the polyadenylation site with a score of 4.085. This variation is located in a hypothetical splicing enhancer with a score of 1.96277 according to the ESE finder program. In the remaining 5 patients, we found 2 common mutations: p.T158M in 4 individuals and p.R168X in only 1 girl.

Association of the IL-10 receptor A536G (S138G) loss-of-function variant with recurrent miscarriage.

We investigated the association of interleukin‐10 receptor (IL10R1) loss‐of‐function variant A536G/S138G with recurrent pregnancy loss (RPL).

REL polymorphisms and rheumatoid arthritis in the Tunisian population.

Joint Bone Spine - In Press.Proof corrected by the author Available online since mercredi 28 mars 2012