Anterior ischemic optic neuropathy associated with rickettsia conorii infection.

A 43-year-old man with fever, headache, and skin rash developed unilateral acute anterior ischemic optic neuropathy. The indirect immunofluorescence test was positive for Rickettsia conorii. Although retinal lesions have been described in Rickettsia conorii infection, this is the first reported case of ischemic optic neuropathy. This infection should be considered in a patient with nonarteritic anterior ischemic optic neuropathy with high fever or skin rash who inhabits or travels from an endemic area.     

Profile of NF-κBp(65/NFκBp50) among prostate specific antigen sera levels in prostatic pathologies

Aim

The aim of this work was to characterise the immunoexpression of NF-κB (p50/p65) in human prostatic pathologies and to study its profiles of activation among sera prostate specific antigen antigen (PSA) according the three groups: 0–4 ng/mL, 4–20 ng/mL and > 20 ng/mL.

Patients and methods

Twenty-four men with benign prostate hyperplasia (BPH); 19 men with prostate cancer (PC) and five men with normal prostates (NP). Immunohistochemical and western blot analysis was performed. Serum levels of PSA were assayed by immulite autoanalyser.

Results

In BPH and PC samples, immunoexpressions were observed for NF-κBp65 and NF-κBp50; while in NP samples, only were detected NF-κBp50. PC samples showed immunoreactions to NF-κBp65 and NF-κBp50 more intense (respectively 24.18 ± 0.67 and 28.23 ± 2.01) than that observed in BPH samples (respectively18.46 ± 2.04 and 18.66 ± 1.59) with special localisation in the nucleus. Different profiles of NF-κBp65 immunoexpressions were observed and BPH patients with sera PSA levels between 0–4 ng/mL presented a significant weak percentage compared to BPH patients with sera PSA levels between 4–20 ng/mL and > 20 ng/mL. No immunoreactions to NF-κBp65 were observed in PC patients with sera PSA levels between 4–20 ng/mL.

Conclusion

The sensibility of both NF-κB and PSA to inflammation allowed confirming the relationship between these two molecules and its involvement in prostatic diseases progression (inflammatory and neoplasic).     

Usefulness of enzyme linked immunosorbent assays species specific in the detection of Chlamydia trachomatis and Chlamydophila pneumoniae IgG antibodies in patients with genital infections or respiratory tract infections

Chlamydia trachomatis (Ct) and Chlamydophila pneumoniae (Cpn) are obligate intracellular bacteria causing genital tract infections (GTI) and respiratory tract infections (RTI), respectively. Antigenic cross-reactivity between the two species may complicate serologic diagnosis. In this study, we compared the performance of two ELISA tests in relation to microimmunofluorescence (MIF) for the detection of Ct and Cpn IgG antibodies. We also explored the degree of cross-reactivity by ELISA and MIF. Among 278 positive sera for Cpn and/or Ct IgG antibodies in the MIF, 153 were from patients with GTI and 125 were from patients with RTI. These sera were tested by our in house MIF test and by two commercial ELISA: SeroCP and SeroCT for the detection of anti-Cpn IgG antibodies and anti-Ct IgG antibodies, respectively. In sera from patients with RTI, correlation between MIF and SeroCP was 92%. The specificity of this test was 38.5%. In fact, among the 140 sera from patients with GTI and that cross-reacted in MIF, only six were confirmed by the two ELISA tests as having IgG antibodies to Ct. The correlation between MIF and SeroCT was 80%. The specificity of this test was 100%. Indeed, among the 65 sera from patients with RTI with cross-reactions in MIF, 30 sera showed a negative SeroCT test. SeroCT was highly specific and could diminish considerably the extent of cross-reactions. Whilst, SeroCP test was not specific enough to distinguish between the presence of IgG antibodies and Cpn or Ct.     

Association between -786TC polymorphism in the endothelial nitric oxide synthase gene and hypertension in the Tunisian population

Background

Nitric oxide (NO) is produced by endothelial cells and serves as a potent vasodilator. Several lines of evidence have shown that NO plays an important role in the regulation of blood pressure and regional blood flow. Recent genetic studies have shown an association between the -786TC polymorphism in the endothelial nitric oxide synthase gene (NOS3) and coronary artery diseases, but any possible association with hypertension has been controversial. In the present study, we examined a possible association between the -786TC polymorphism of the NOS3 gene and hypertension in a sample of the Tunisian population.

Methods

A total of 288 unrelated Tunisian patients with hypertension and 373 normotensive subjects were included in the study. The -786TC gene polymorphism was analyzed by PCR-RFLP.

Results

A significant difference in genotype distribution and allele frequency was observed between patients and controls. Patients with hypertension had a frequency of 19.7% for CC genotype, 52.9% for TC genotype and 27.3% for TT genotype. The control had a frequency of 14.7% for the CC genotype, 47.2% for the TC genotype and 38.1% for the TT genotype (χ² = 9.09, p = 0.01). The hypertension patient group showed a significant higher frequency of the C allele compared to the controls (0.46 vs. 0.38; χ² = 8.26, p = 0.004). The odds ratio of hypertension for C vs. T allele frequencies was statistically significant 1.59 (1.14–2.21) at 95% CI, p = 0.004 in men, whereas it was non-significant in women 1.21 (0.87–1.67), p = 0.23.

Conclusion

The present study showed a significant and independent association between the -786TC gene polymorphism (presence of C allele) and hypertension in the Tunisian population.     

C(-260)T polymorphism in the promoter of CD 14 gene is not associated with myocardial infarction in the Tunisian population

Recent findings suggest that inflammation plays a role in atherosclerosis and its acute complications. Several known mechanisms may play at least a partial role in this process. One of the most likely mechanisms involves lipopolysaccharide (LPS) and its receptor, CD14. The C(− 260)T single nucleotide polymorphism (rs2569190) in the promoter region of the CD14 receptor gene has been reported to be associated with a higher risk of MI. Others studies, however, have not corroborated these findings. Considering the contradictory results, the aim of the present study was to investigate the possible association between the CD14 C(− 260)T polymorphism and the risk of MI in the Tunisian population.A total of 321 Tunisian patients with MI and 344 healthy controls were included in the study. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The frequency of TT homozygous genotype for the CD14 C(− 260)T polymorphism was 26.2% in MI patients and 27.0% in the control group. However, the genotype distribution and allele frequencies were not significantly different between MI and controls subjects. Moreover, the odds ratio for MI associated with the TT genotype failed to reach statistical significance (OR = 1.22; 95% CI: 0.85–1.77; p = 0.272).These results do not support the hypothesis that the C−260T polymorphism of CD14 gene contributes to the genetic susceptibility to MI in the Tunisian population studied.     

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX genes) localized within defined genetic intervals represent a rational strategy to identify a genetic cause of the disorder. Here, we report a Tunisian family including 3 males with severe to mild mental retardation, short stature, lean body and microcephaly; we mapped the disease to a unique interval encompassing Xp21.1-Xq21.33 (with a maximum LOD score of 0.90). Subsequent mutation analysis of genes located in this interval allowed us to identify a truncating mutation in the PQBP1 gene. This mutation is an insertion of an adenosine residue in exon 5 (c.631insA). This frameshift insertion causes premature stop codon at amino acid position 226. The observed mutation was found in all males with MR in this family. Together with previously reported observations, our data further confirm that PQBP1 gene should be tested for males showing mental retardation, short stature, lean body and microcephaly.     

Erythrocytes oxidative damage and hematological effects of 2,4,4′,5-tetrachlorodiphenyl sulfone in rats

The effects of subchronic exposure to tetrachlorodiphenyl sulfone (TCDS) on hematological parameters [white blood cells (WBC), red blood cells (RBC), mean cell volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), hemoglobin (Hb) and hematocrite (Ht) levels] were examined. Oxidative stress in erythrocytes was also assessed by measuring thiobarbituric acid reactive substances (TBARS) and enzyme antioxidant activities [superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx)]. TCDS was administered orally, dissolved in water, ad libitum to 12 female rats at 28.9 mg/kg/day for 6 or 12 weeks. Results showed that TCDS induced significant decreases in RBC, Hb, and Ht. Whereas MCV, MCH, and MCHC remain unchanged and WBC increased only in the second period of the study. Moreover erythrocyte TBARS level increased, and antioxidant enzyme (SOD, GPx, and CAT) activities decreased. We concluded that TCDS intoxication promotes erythrocyte oxidative damage and disrupt hematological constituents in rats.     

Nephrotoxic effect of tetradifon in rats: A biochemical and histomorphometric study

The effects of subchronic exposure to tetradifon on biochemical related kidney toxicological parameters [creatinine (CRT), urea, and uric acid (UA)] were examined. Oxidative stress in kidney tissue was also assessed by measuring vitamin C (VitC) content and antioxidant enzyme activities [superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx)]. Tetradifon was administered orally to 12 rats at a cumulative dose of 24.3 mg/kg for 12 weeks. Twelve additional rats, no treated, have served as control. Control and treated animals were sacrificed after 6 or 12 weeks. For each group, kidneys were examined for morphometric changes. Results showed that tetradifon induced significant increases in CRT and urea, and decrease in UA. Morphometrically, while mean glomerular volume decreased percentage of sclerosed glomeruli increased in treated rats. Index of interstitial fibrosis was significantly higher. Moreover, renal antioxidant enzyme (SOD and GPx) activities and VitC content decreased. We concluded that tetradifon possessed nephrotoxic by promoting kidney morphometric and functional damage and depleting renal antioxidant defense system in rats.     

Polymorphisms of the NOS3 gene in Tunisian patients with Behçet's disease

Behçet's disease (BD) is a multisystem inflammatory disease characterized by recurrent orogenital ulceration, ocular inflammation and skin lesions. Reduced plasma nitric oxide (NO) levels in patients with BD have been implicated in the development of the endothelial abnormalities and thrombotic complications occurring in these patients. Polymorphisms in the endothelial nitric oxide synthase gene (NOS3) have been inconsistently associated with BD. This inconsistency may derive from population stratification secondary to ethnic diversity, and consideration limited to only one rather than combinations of polymorphisms. We studied three genetic variations in the NOS3 gene: a single nucleotide polymorphism in the promoter region ?786T>C, in exon 7 (Glu298Asp), and a variable number of tandem repeats in intron 4 (4a4b) of the NOS3 gene in 100 unrelated Tunisian patients with BD and 148 healthy controls. In addition, we also examined the association of NOS3 gene haplotypes with BD. Analyses of the Glu298Asp, ?786T>C and 4a4b polymorphisms were made by the polymerase chain reaction (PCR) restriction fragment length polymorphism technique and PCR genotyping, respectively. The distribution of the Glu298Asp genotype differed significantly between patients with BD and controls (P = 0.01). Allele Asp298 was significantly more frequent in patients with BD than in controls (P = 0.005, OR = 1.70, 95% CI 1.14–2.54). In contrast, distribution of alleles and genotypes of ?786T>C and 4a4b polymorphisms was not different between the control and BD group. However, the frequency of Asp‐T‐4b haplotype was significantly higher in patients with BD than in healthy controls. By gender, the signification remained only for heterozygous men (P = 0.03) and homozygous women (P = 0.02). These results suggest that Glu298Asp polymorphism of the NOS3 gene is associated with BD susceptibility in Tunisian patients.     

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever

OBJECTIVES: To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Tunisian patients. PATIENTS AND METHODS: This study was performed in the Genetic Department of Tunis University Hospital. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV gene was performed in the Human Genetic Laboratory of the "Faculté de Medecine de Tunis" for 8 mutations including the 5 most common known mutations M694V, V726A, M694l, M680l, and E148Q. The tests performed were polymerase chain reaction (PCR) restriction-digestion for M694V, V726A, M680l, R761H, E148Q; amplification refractory mutation system for A744S, M694l; and PCR-electrophoresis assay for l692del. RESULTS: Of the 139 unrelated patients investigated, 61 (44%) had 1 or 2 mutations. In 78 (56%) probands no mutation was identified: 28 patients were homozygous; 16 were compound-heterozygous; 2 had complex alleles; and 17 had only 1 identifiable mutation. Of the mutations, M680l, M694V, M694l, V726A, A744S, R761H, l692DEL, and E148Q accounted for 32, 27, 13, 5, 3, 1, 1, and 18%, respectively. CONCLUSION: The profile of the MEFV gene mutations in the Tunisian population is concordant with other Arab populations but with some differences. M680l is the most common mutation, while V726A, the commonest mutation among Arabs, is rare in our population.