The Cu/Zn superoxide dismutase +35A/C (rs2234694) variant correlates with altered levels of protein carbonyls and glutathione and associates with severity of COPD in a Tunisian population

Chronic obstructive pulmonary disease (COPD) is a major cause of mortality that has been associated with inflammation and oxidative stress. The purpose of the present case–control study was to determine the relationships between oxidative stress-related genetic variants and the risk and severity of COPD, as well as, the influence of these variants on inflammatory and oxidative stress parameters. Genotyping of superoxide dismutase 1 (SOD1) + 35 A/C (rs2234694), catalase [A-21T (rs7943316), C-262T (rs1001179)] and glutathione peroxidase 1 (reduced glutathione (GSH)-Px1) 198Pro/Leu (rs1050450) was carried out in 143 patients with COPD and 216 healthy controls using PCR-RFLP. Serum levels of IL-6 and TNF-α were determined by enzyme-linked immunosorbent assays (ELISA), while the levels of reduced GSH, total antioxidant status (TAS), H₂O₂, lipid peroxides (TBARS) and protein carbonyls (PCs) were determined using spectrophotometric methods. We also evaluated the activities of GSH-Px, catalase, and superoxide dismutase (SOD) in both plasma and erythrocytes. We did not observe significant differences in the genotype and allele frequencies of chosen variants between COPD patients and healthy controls. A significant correlation was retrieved between the SOD1?+?35A/C variant and disease severity (odds ratios (OR) = 0.15, p?=?0.04). In addition, patients having the +35AC genotype presented increased plasma levels of GSH and a reduced level of PCs (p?=?0.03, p?=?0.04, respectively). The present data highlighted the important role of antioxidant enzymes and their genetic variants in the oxidative stress-mediated pathogenesis and progression of COPD.     

Lyme borreliosis situation in North Africa

Many epidemiological studies were conducted for studying Lyme borreliosis (LB) which represents a new global public health problem. It is now the most common vector-borne disease in Europe and North America. The causative agent Borrelia burgdorferi sl is a bacterial species complex comprising 12 delineated and named species. In North Africa, few studies based on clinical and serological features, have suggested that LB could occur. Indeed, recent studies conducted in Tunisia, Algeria and Morocco have showm that Ixodes ricinus is present in cooler and humid area of these regions. These studies also revealed that this species is a vector of B. burgdorferi sl with high prevalence of infection. Using IFI and PCR tests, the mean rate of Borrelia-infection ranged from 50 to 60% in I. ricinus adult collected in Tunisia and Morocco and from 30 to 40% in nymphs; in contrast, the prevalence in larvae is less than 2.5%. Several strains of B. burgdorfer were isolated from adult and nymph I ricinus collected in Tunisia and Morocco. The identification of these strains and DNAs directly extracted from Ixodes was done by PCR-RFLP and sequence analysis. The results showed that B. lusitaniae (genotypes Poti B2 and Poti B3) is the predominant species circulating in I. ricinus in Tunisia and Morocco, B. garinii and B. burgdorferi ss and B lusitaniae were also present but very rare. These results provide the evidence for the existence of B. burgdorferi sl in North Africa; however, the impact of LB in the human population seem to be negligible and the seroprevalence of Borrelia in forest workers (considered as population at high risk) in Tunisia is less than 4%.     

Genotype identification of Enterocytozoon bieneusi isolates from stool samples of HIV-infected Tunisian patients

The microsporidian species Enterocytozoon bieneusi is a major cause of chronic diarrhea and malabsorption in patients with AIDS. Genotyping was performed on seven E. bieneusi strains for the first time in Tunisia. All the strains were isolated from stool samples of humans with immunodeficiency virus (HIV) infection. Analysis of the ribosomal RNA gene internal transcribed spacer (rDNA ITS) allowed the identification of three distinct genotypes previously described in other studies. Genotypes D and B were characterized in four and two respectively. The Peruvian genotype (Peru 8) was detected in the last isolate. These results indicate a genetic diversity in E. bieneusi strains from HIV Tunisian patients and suggest the coexistence of both zoonotic and anthroponotic route of transmission.     

A case of Kearns–Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes,buccal mucosa and hair follicles

Kearns–Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with typical features of KSS. Long-range PCR amplification of the mtDNA in different tissues from this patient showed multiple mitochondrial deletions: two novel 9.768 and 7.253 kb deletions spanning respectively nucleotides 6124–15,893 and 8572–15,826 associated with the common 4.977 kb deletion.     

L’ischémie du gland: une complication de la circoncision sous bloc pénien

Dorsal penile nerve block is a common procedure and can provide effective analgesia after penile surgery. Ischaemic complications are rare and generally result from trauma or inadvertent administration of vasoconstrictor solutions. We describe a case of glans penis ischaemia in a 15-year-old male after dorsal penile nerve block with lidocaine 2% and bupivacaine 5% for circumcision. The event occurred nearly 12 hours after the procedure. This was successfully treated with intravenous infusion of lloprost (a PGI2 analogue) and oral administration of pentoxifylline. The appearance returned to normal after 72 hours. This rare complication associated with circumcision and dorsal penile nerve block is reviewed and discussed.     

Epizootic equine influenza in Tunisia

The authors describe an equine influenza epizootic that occurred in Tunisia during February and March 1998 in the regions of Tozeur, Sousse and Tunis. They relate the symptoms, the different stages of diagnosis and the serological results.     

Molecular Diagnostic and Prognostic Subtyping of Gliomas in Tunisian Population

It has become increasingly evident that morphologically similar gliomas may have distinct clinical phenotypes arising from diverse genetic signatures. To date, glial tumours from the Tunisian population have not been investigated. To address this, we correlated the clinico-pathology with molecular data of 110 gliomas by a combination of HM450K array, MLPA and TMA-IHC. PTEN loss and EGFR amplification were distributed in different glioma histological groups. However, 1p19q co-deletion and KIAA1549:BRAF fusion were, respectively, restricted to Oligodendroglioma and Pilocytic Astrocytoma. CDKN2A loss and EGFR overexpression were more common within high-grade gliomas. Furthermore, survival statistical correlations led us to identify Glioblastoma (GB) prognosis subtypes. In fact, significant lower overall survival (OS) was detected within GB that overexpressed EGFR and Cox2. In addition, IDH1R132H mutation seemed to provide a markedly survival advantage. Interestingly, the association of IDHR132H mutation and EGFR normal status, as well as the association of differentiation markers, defined GB subtypes with good prognosis. By contrast, poor survival GB subtypes were defined by the combination of PTEN loss with PDGFRa expression and/or EGFR amplification. Additionally, GB presenting p53-negative staining associated with CDKN2A loss or p21 positivity represented a subtype with short survival. Thus, distinct molecular subtypes with individualised prognosis were identified. Interestingly, we found a unique histone mutation in a poor survival young adult GB case. This tumour exceptionally associated the H3F3A G34R mutation and MYCN amplification as well as 1p36 loss and 10q loss. Furthermore, by exhibiting a remarkable methylation profile, it emphasised the oncogenic power of G34R mutation connecting gliomagenesis and chromatin regulation.     

La gangrène des organes génitaux externes de I’homme: Facteurs de risque et de pronostic

The objective of this study, based on 20 cases of necrotizing fasciitis of the male genitalia, is to identify the risk factors and prognostic factors of this disease. Most cases of necrotizing fasciitis of the male genitalia occurred in elderly men with a poor socio-economic level including 9 diabetics. There was no identifiable cause in 8 cases (Fournier’s gangrene). All patients underwent surgical excision and systematic antibiotic therapy. This series comprised 5 deaths (25%) in patients over the age of 69 years with extensive lesions and a very poor general state on admission. The outcome of survivors was favourable after a prolonged hospital stay (mean stay: 1 month). The clinical context therefore appears to play an essential role in the development of this disease and its subsequent prognosis, which could be improved by rapid and appropriate prevention and treatment.     

A novel m.3395A > G missense mutation in the mitochondrial ND1 gene associated with the new tRNA m.4316A > G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A > G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A > G located in the residue A54 of the tRNA^Ile gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.     

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations: m.3395A>G (Y30C) occurring in a highly conserved aminoacid of the ND1 gene and the m.4316A>G located in the residue A54 of the tRNA(Ile) gene. These 2 novel variations were absent in 150 controls. All these variants may act synergistically and exert a cumulative negative effect on heart function to generate the cardiomyopathy.