Ramzi Zemni | Faculté De Medecine De Sousse (original) (raw)

Papers by Ramzi Zemni

Revue du Rhumatisme, Dec 1, 2022

Mycopathologia, Jan 18, 2017

According to epidemiological, clinical and mycological criteria, it has long been admitted that t... more According to epidemiological, clinical and mycological criteria, it has long been admitted that the Trichophyton mentagrophytes species includes two varieties: a zoophilic variety (var. mentagrophytes) and an anthropophilic variety (var. interdigitale) that involve the upper and the lower part of the body, respectively. The further application of molecular techniques to the characterization of dermatophyte strains showed that this classification is unreliable. The aim of our study was to assess the usefulness of PCR–RFLP (restriction fragment length polymorphism) and sequencing in the characterization of T. mentagrophytes strains taken from Tunisian patients. The study was carried out in 2008 in the laboratory of Parasitology–Mycology of Farhat Hached University Hospital, Sousse, Tunisia. A total of 133 strains were isolated from 133 patients addressed to the laboratory for dermatological lesions very evocative of dermatomycosis. Eighty strains were isolated from lesions located on the lower part of the body (onychomycosis, tinea pedis) and 53 strains from the upper part of the body (tinea capitis, tinea corporis). All strains were submitted to mycological examination (direct microscopic examination and culture on Sabouraud medium) and further investigated by using RFLP analysis of the PCR-amplified ITS1-5.8 s-ITS2 region of the ribosomal DNA and the MvaI restriction enzyme. In addition, 62 strains were further submitted to a sequencing of the ITS1-5.8 s-ITS2 region. On the basis of mycological criteria, all strains were diagnosed as T. mentagrophytes. All strains produced the same RFLP pattern and were identified as T. mentagrophytes interdigitale regardless of the location of lesions. Out of the 62 sequenced strains, 16 were found anthropophilic and 46 were zoophilic. In conclusion, all strains provisionally diagnosed as T. mentagrophytes on the basis of mycological criteria were shown to belong to T. interdigitale by using PCR–RFLP and sequencing irrespective of the site of lesions. The predominance of zoophilic strains needs further investigation.

European Journal of Human Genetics, 2012

Journal de Mycologie Médicale, 2012

Onychomycosis is one of the most prevalent dermatophytic diseases. Mycological methods used in th... more Onychomycosis is one of the most prevalent dermatophytic diseases. Mycological methods used in the conventional diagnosis may not be optimal. PCR was reported as a reliable alternative in the diagnosis of dermatophytosis. A PCR method based on the amplification of the chitin synthase 1 gene was developed. The study included 119 strains of dermatophytes and non dermatophytic fungi, eight dermatophytic reference strains and 201 nail specimens from patients with dermatophytic onyxis. DNA extraction was carried out by using the QIAamp DNA extraction kit (Quiagen). PCR positivity was based on the production of a specific 432 bp fragment. None of the investigated non dermatophytic strains was positive. Sensitivity of PCR was higher as compared to mycological examination (90.5% vs. 81.1%). PCR was positive in 31 onyxis cases with positive direct examination but negative or contaminated culture. In contrast, PCR was negative in 10 cases where both direct examination and culture were found positive. PCR is an adequate tool for the diagnosis of dermatophytic onychomycosis. It is much adapted to cases where culture is negative or contaminated by overgrowing molds, which makes the identification of the causal agent problematic.

Mycoses, 2012

Onychomycosis is the most frequently encountered nail disease and may be difficult to diagnose an... more Onychomycosis is the most frequently encountered nail disease and may be difficult to diagnose and treat. The objective of this study was to determine the prevalence, the clinical and mycological characteristics of onychomycosis in central Tunisia. It is a retrospective study performed over a 22-year period (1986-2007). It included 7151 patients (4709 women and 2442 men) with suspected fingernails and ⁄ or toenails onychomycosis. The patients were referred to the Mycology-Parasitology Laboratory of Farhat Hached hospital in Sousse for mycological examination. Both direct microscopy and culture of the nail material were performed to diagnose and identify the causative fungal species. Onychomycosis was confirmed in 78.6% of investigated patients (5624 ⁄ 7151). The positivity rate was higher in women as compared with men. In both men and women, fingernails were most frequently involved than toenails. No significant relation was found between gender and toenails onychomycosis, whereas fingernails were frequently involved in women. As far as aetiological agents are considered, dermatophytes, yeast and moulds were responsible for 49.9%, 47.4% and 2.7% of onyxis cases respectively. In fingernail infections, yeast were the most frequent fungi (83.6%), Candida albicans being the leading species (51.6%). In contrast, in toenail infections, dermatophytes were more frequent (74.1%). Trichophyton rubrum was by far the dominant species (88.1%). Yeast were observed more frequently in women whereas dermatophytes were more common in men. Moulds were involved in 4.2% of cases. The most frequent species were Aspergillus sp. and Chrysosporium sp. Onychomycosis is a frequent disease in central Tunisia. T. rubrum is the predominant agent in toenails infection and yeast, mainly C. albicans, in fingernails onychomycosis.

International Journal of Immunogenetics

Behçet's disease (BD) is a chronic auto inflammatory disorder of unknown aetiology. Recently,... more Behçet's disease (BD) is a chronic auto inflammatory disorder of unknown aetiology. Recently, the dysregulation of interleukin‐21 receptor (IL‐21R) has been incriminated in different autoimmune and auto‐inflammatory diseases, such as systemic lupus erythematous, rheumatoid arthritis, and type 1 diabetes. Herein, we aimed to investigate the association of two Il‐21R gene polymorphisms with BD. IL‐21R rs2214537 and IL‐21R rs2285452 genotypings were investigated in a cohort of 110 adult patients with BD and 116 age and gender unmatched healthy controls. Genotyping was performed by mutagenically separated polymerase chain reaction with newly designed primers. IL‐21R rs2285452 genotypes and alleles distribution were statistically different between patients with BD and controls. GA and AA genotypes carrying the minor A allele were more frequent in patients with BD than in healthy controls (37.3% and 11.8% vs. 23.3% and 3.4%, respectively). The minor A allele was associated with an inc...

International Journal of Dermatology and Skin Care, 2019

Clinical Rheumatology, 2022

Little is known about genes predisposing to systemic bone loss (SBL) in rheumatoid arthritis (RA)... more Little is known about genes predisposing to systemic bone loss (SBL) in rheumatoid arthritis (RA). Therefore, we examined the association between SBL and variants of genes playing a critical role in both immune response and bone homeostasis among patients with RA. IRAK-1 rs3027898, IRAK-2 rs3844283, IRAK-2 rs708035, IFIH1 rs1990760, CD40 rs48104850, TNFAIP3 rs2230926, and miR146-a rs2910164 were genotyped in 176 adult RA patients. Bone mineral density (BMD) was measured using dual-energy X-ray absorptiometry (DXA). Low BMD was observed in 116 (65.9%) patients. Among them, 60 (34.1%) had low femoral neck (FN) Z score, 72 (40.9%) had low total femur (TF) Z score, and 105 (59.6%) had low lumbar spine (LS) Z score. Among all the SNPs assessed, only CD40 rs4810485 was found to be associated with reduced TF Z score with the CD40 rs4810485 T allele protecting against reduced TF Z score (OR = 0.40, 95% CI = 0.23–0.68, p = 0.0005). This association was confirmed in the multivariate logistic ...

Clinical Rheumatology, 2019

Introduction Interleukin-1 receptor-associated kinases (IRAKs) are serine-threonine kinases invol... more Introduction Interleukin-1 receptor-associated kinases (IRAKs) are serine-threonine kinases involved in toll-like receptor and interleukin-1 signaling pathways. They play a key role in inflammation and innate immunity. IRAKs have been previously incriminated in autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis and inhibition of IRAKs has been recently regarded as a potential therapeutic strategy for SLE. Objectives The aim of the present study was to test the association between IRAK2 rs708035 and rs3844283 with SLE. Material and methods IRAK2 rs708035 and rs3844283 were genotyped by mutagenically separated polymerase chain reaction (MS-PCR) in 142 SLE patients and 149 age-and gender-matched controls. Results The hyperfunctional IRAK2 rs708035 A allele was more frequent among SLE patients than controls (62.9% versus 54.7%, p = 0.046). IRAK2 rs3844283 C allele was present in 66.5% of patients and 75.5% of controls. The CC genotype was the most frequently exhibited genotype. It was carried by 45.1% of patients with SLE and 57.7% of controls. The G allele was associated with an increased risk of SLE (OR = 1.54, 95%, CI = 1.07-2.22, p = 0.017). IRAK2 rs708035 and IRAK2 rs3844283 were in linkage disequilibrium (D′ = 0.64). The AG haplotype was more frequently observed in SLE patients than in controls (0.292 versus 0.194, p = 0.008). Conclusion This study for the first time ever reveals the association of IRAK2 rs708035 and IRAK2 rs3844283 and the corresponding haplotypes with SLE. Our findings give additional rationale to target IRAKs in the treatment of SLE. Key Points • IRAK2 rs708035 A allele is more frequent in SLE patients than in controls and IRAK2 rs3844283 G allele is associated with SLE susceptibility. • These two alleles are in linkage disequilibrium. • The AG haplotype is associated with SLE.

Clinical Rheumatology, 2018

Objectives This study was aimed to investigate the association of the single nucleotide polymorph... more Objectives This study was aimed to investigate the association of the single nucleotide polymorphism of tumor necrosis factor receptor associated factor 6 (TRAF6), rs540386, with low bone mineral density (BMD) among patients with rheumatoid arthritis (RA). Methods TRAF6 rs540386 genotyping was performed by mutagenically separated PCR in a cohort of 188 (23 men, 165 women, median age, 56.2 years) adult RA patients and 224 age and gender-matched controls. BMD was measured using dual-energy Xray absorptiometry (DXA) (Lunar Prodigy advance scans, GE Healthcare, USA). Results Among the RA patients, 64 (55 women, 9 men) had low BMD comprising of 57 patients with osteoporosis and 7 with osteopenia. Whereas TRAF6 rs540386 was not associated with RA susceptibility, it was however found to be a risk factor for reduced lumbar spine Z-score in the recessive model (OR = 3.34, 95% CI = (1.01-11.00), p = 0.038). This association was confirmed further in the multivariate logistic regression analysis taking into account several potential confounding factors (OR = 3.34 (1.01-11.00), p = 0.048). In addition, mean total femur Z-score was found to be reduced in TT patients when compared to CC + CT patients (− 1.30 ± 1.32 versus − 0.60 ± 1.05, p = 0.034). No association between TRAF6 rs540386 and local bone damage was observed. Conclusions This study for the first time ever demonstrated an association between a genetic variant of TRAF6 and low BMD among patients with RA. Further investigations are needed to elucidate the exact role of this variant. Keywords Bone mineral density. Mutagenically separated polymerase chain reaction (MS-PCR). Osteoporosis. Rheumatoid arthritis. rs540386. Tumor necrosis factor receptor associated factor 6 (TRAF6)

Journal of pediatric endocrinology & metabolism : JPEM, Jan 27, 2017

Enteroviral infections have long been suspected in having a role in β cell destruction and theref... more Enteroviral infections have long been suspected in having a role in β cell destruction and therefore leading to the onset of clinical type 1 diabetes (T1D). The frequency of enterovirus (EV)-related T1D in North Africa is still unknown. The aim of the present study was to investigate the relationship between infection with EV and T1D in Tunisia. A total of 95 T1D patients (41 children and 54 adults) and 141 healthy control subjects (57 children and 84 adults) were tested for the presence of EV-RNA by a highly sensitive nested reverse transcription-polymerase chain reaction (RT-PCR) method. EV-RNA was detected more frequently in plasma from diabetic patients than in plasma of controls (31.6% vs. 7.8%, p<0.0001; OR=5.45; 95% CI 2.44-12.43). RT-PCR revealed positive in 53.7% of T1D children and 14.8% of T1D adults. There was a statistically significant difference between children and adults with T1D (p<0.0001). Positivity of EV-RNA according to the time after the occurrence of th...

Pathologie Et Biologie, 1998

Revue du Rhumatisme, 2012

Mycoses, 2013

Onychomycosis is one of the most prevalent dermatophytic diseases. Mycological methods used in th... more 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.

Journal of Human Genetics, 2014

on Mental Retardation study 5,7 L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive ne... more on Mental Retardation study 5,7 L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involved in the oxidation of LGA to the alpha 2-ketoglutarate. LGA has been proposed as an endo-and exogenous cytotoxic organic acid that induces free radical formation and generation of reactive oxygen species (ROS). In this report, we analyzed 14 L2HGA patients belonging to six unrelated consanguineous families the south of Tunisia. The patients were diagnosed with L2HGA disease confirmed on the presence of high level of LGA in urine. We analyzed the L2HGDH gene in all probands and identified the same c.241A4G homozygous mutation, which was previously reported in Tunisia. We also used intragenic single nucleotide length polymorphisms (SNPs) and two extragenic microsatellites flanking the L2HGDH gene to confirm the founder effect of c.241A4G mutation in the 14 studied cases. In addition, we carried out the measurement of the oxidative stress parameters in the plasma of L2HGA patients which revealed a significant increase in the malondialdehyde levels (MDA), a biomarker of lipid peroxydation, and the reduced glutathione (GSH). A diminution of the antioxidant enzyme activities including superoxide dismutase (SOD), glutathione peroxidase (GPx), was also observed.

Clinical Genetics, 2001

We describe a female infant with severe abnormal phenotype with a de no6o partial duplication of ... more We describe a female infant with severe abnormal phenotype with a de no6o partial duplication of the short arm of the X chromosome. Chromosome painting confirmed the origin of this X duplication. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) was performed with YAC probes, further delineating the breakpoints. The karyotype was 46, X dup(X)(p11-p21.2).Cytogenetic replication studies showed that the normal and duplicated X chromosomes were randomly inactivated in lymphocytes. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated and they are phenotypically apparently normal relatives of phenotypically abnormal males having dupX. Therefore, in this case, there is functional disomy of Xp11-p21.2 in the cells with an active dup(X), most likely resulting in abnormal clinical findings in the patient.

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology, 2014

Genetic Testing and Molecular Biomarkers, 2017

Background: Rheumatoid arthritis (RA) is characterized by the production of an array of proinflam... more Background: Rheumatoid arthritis (RA) is characterized by the production of an array of proinflammatory cytokines through the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) signaling pathway. The interleukin-1 receptor (IL-1R) and Toll-like receptors contain a common cytoplasmic motif the Toll/ IL-1R (TIR) homology domain. This motif is required for NF-kB activation. IL-1R-associated kinase 1 (IRAK1) is a key adapter molecule recruited during the signaling cascade of the TIR. Its gene expression is regulated by the micro-RNA (miR)-146a. Objective: We investigated the role of the IRAK1 single-nucleotide polymorphism (SNP) rs3027898 (IRAK1 rs3027898) and the miR-146a SNP rs2910164 (miR-146a rs2910164) in Tunisian patients with RA and their association with C reactive protein (CRP), rheumatoid factor (RF), anticyclic citrullinated peptide (anti-CCP) antibodies, and erosion. Patients and Methods: In a cohort of 172 adult RA patients and 224 matched controls, IRAK1 rs3027898 genotyping was determined by mutagenically separated polymerase chain reaction (MS-PCR) with newly designed primers, and miR-146a rs2910164 genotyping was determined by restriction fragment length polymorphism PCR (RFLP-PCR). Results: The IRAK1 rs3027898 A allele was detected in 67% of RA patients and 70% of controls indicating that it is not associated with RA in codominant, dominant, or recessive models even after stratification by age and gender. The miR-146a rs2910164 G allele was detected in 76% of RA patients and 68% of controls, thus the C allele confers some protection based on a dominant model [CC+GC (odds ratio (95% confidence interval) = 0.6 (0.3-0.9), p = 0.03)]. No association with CRP, RF, anti-CCP, or erosion was found for either SNPs. Conclusion: The IRAK1 rs3027898 was not associated with RA, whereas the C allele of miR-146a rs2910164 was found to be protective. Functional studies are required to investigate the exact role of miR-146a rs2910164 during RA.

Http Www Theses Fr, 2002

Le retard mental, defini par une baisse significative du fonctionnement intellectuel general (QI&... more Le retard mental, defini par une baisse significative du fonctionnement intellectuel general (QI<70), represente, par son incidence (10 a 25/1000 naissances), un veritable probleme de sante publique qui reste encore meconnu et peu etudie. Diverses etudes epidemiologiques ont montre que la frequence des retards mentaux inexpliques est plus grande chez les garcon que chez les filles avec un sexe ratio moyen de 1,6 en moyenne. On admet actuellement que 25 a 50% des retard mentaux inexpliques seraient lies a des genes du chromosome X dont le nombre est estime actuellement a 50 a 100 genes dont dix ont ete deja identifies. La non-specificite du phenotype " retard mental " combinee avec une forte heterogeneite genetique s'opposent au cumul des resultats et donc a l'obtention d'un lod score significatif permettant une localisation assez fine (intervalle de liaison de petite taille) du locus responsable de la maladie. C'est pourquoi nous avons combine des etudes genetiques a l'etude de translocations equilibrees X ; Autosomes qui nous permettent de cibler directement le locus d'interet. Grâce a cette demarche, nous avons reduit les intervalles physiques pour la region du chromosome X contenant les points de cassure de la t(X ;3) et la t(X ;17) associees a des retards mentaux syndromiques. Le criblage de deux genes candidats pour la t(X ;4) associee a un retard mental n'a pas permis de mettre en evidence des mutations morbides. En revanche, grâce a la meme strategie, nous avons pu impliquer le gene TM4SF2, desorganise par la t(X ;2)(p11. 4 ;p21) dans une forme familiale de retard mental non specifique. Si l'identification de nouveaux genes impliques dans le retard mental reste donc un objectif essentiel pour le diagnostic et le conseil genetique, les etudes de nouvelles voies de signalisation impliquees dans le developpement de fonctions intellectuelles devraient contribuer a une meilleure comprehension de la physiopathologie des retard mentaux.

Cytochrome P450 1A2 (CYP1A2) enzyme plays an important role in the homeostasis of the cardiovascu... more Cytochrome P450 1A2 (CYP1A2) enzyme plays an important role in the homeostasis of the cardiovascular system through the metabolism of endogenous molecules such as arachidonic acids which have cardioprotective effects and exogenous molecules like tobacco chemicals that have atherogenic effects. The objective of this study was to evaluate the association between the functional polymorphism CYP1A2 -163A>C (rs762551) and coronary heart disease (CHD) in the Tunisian population and to determine whether the C allele confer a lower risk of CHD among smokers. We investigated a total of 400 controls and 379 coronary heart disease patients including 261 subjects with myocardial infarction (MI) and 118 with angina to validate this association. The results did not show any significant association between CYP1A2 -163A>C polymorphism and CHD or MI. However, the homozygous genotype CC of the single nucleotide polymorphism (SNP) -163A>C was found to be significantly associated with angina (...

Revue du Rhumatisme, Dec 1, 2022

Mycopathologia, Jan 18, 2017

European Journal of Human Genetics, 2012

Journal de Mycologie Médicale, 2012

Mycoses, 2012

International Journal of Immunogenetics

International Journal of Dermatology and Skin Care, 2019

Clinical Rheumatology, 2022

Clinical Rheumatology, 2019

Clinical Rheumatology, 2018

Journal of pediatric endocrinology & metabolism : JPEM, Jan 27, 2017

Pathologie Et Biologie, 1998

Revue du Rhumatisme, 2012

Mycoses, 2013

Onychomycosis is one of the most prevalent dermatophytic diseases. Mycological methods used in th... more 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.

Journal of Human Genetics, 2014

Clinical Genetics, 2001

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology, 2014

Genetic Testing and Molecular Biomarkers, 2017

Http Www Theses Fr, 2002