Anatomically based comparison of the different transthoracic routes for colon ascension after total esogastrectomy

Colon interposition is the method of choice to restore the digestive tract after esogastrectomy. The aim of this study was to compare the length of the four available routes for colon transposition (posterior mediastinum route, transpleural route, substernal route and subcutaneous route) and to achieve a specific evaluation of the transpleural route. Our study was conducted with anatomical (dissection) and radiological (2D CT scan reconstructions) protocols. For both, the posterior mediastinum route was always the shortest way and the subcutaneous route was always the longest. For the anatomical results, the transpleural route and the substernal route were similar in terms of length and for the radiological study, the transpleural route was shorter than the substernal route (P < 0.001) and shorter than the subcutaneous route (P < 0.001). We demonstrated that the transpleural route was acceptable for colon transposition in term of length, and could be an alternative when the substernal route is unavailable.     

Isolated frontal sinus fungus ball: Diagnostic and therapeutic features and the role of endonasal endoscopic approach

Fungus ball (FB) is a non invasive form of fungal sinusitis that generally affects immunocompetent subjects. Isolated involvement of the frontal sinus is extremely rare. The treatment is surgical. Previously, it was based on the external approach. Recently, the endoscopic approach has been increasingly employed.We report three cases of frontal sinus fungus ball. Two patients underwent endoscopic endonasal frontal Draf type IIb sinusotomy with complete removal of the pathologic material. The third patient had an external approach due to the extensive pneumatisation of the frontal sinus, the defect in its floor and the orbital involvement. There were no intraoperative or postoperative complications. No recurrence of the disease was observed during the three, two and twelve months’ follow up period, respectively.Correct clinical and radiological diagnosis of isolated frontal sinus FB still remains a challenge. Endoscopic sinus surgery with endonasal Draf type IIb or type III frontal sinusotomy is effective for the treatment of frontal sinus FB. It is the treatment of choice and replaces the traditional external approaches.     

Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity

We determined the spectrum of beta-thalassemia (thal) mutations in 118 affected unrelated patients with different forms of beta-thal. Using a combination of reverse dot-blot analysis, denaturing gradient gel electrophoresis (DGGE), polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) and direct nucleotide sequencing, we identified the largest spectrum of beta-thal mutations so far reported in Tunisia, and to the best of our knowledge, within the Mediterranean Basin. A total of 18 distinct alleles were detected at different frequencies, with two alleles [codon 39 (C-->T) and IVS-I-110 (G-->A)] predominating all others. Seven other alleles [frameshift at codon (FSC) 6 (-A), FSC 8 (-AA), codon 30 (G-->C), IVS-I-1 (G-->A), IVS-I-2 (T-->G), IVS-I-6 (T-->C), FSC 44 (-C)] were rare, and nine alleles [-29 (A-->G), IVS-I-2 (T-->C), IVS-I-5 (G-->C), IVS-I-5 (G-->T), IVS-I-116 (T-->G), codon 37 (G-->A), IVS-II-1 (G-->A), IVS-II-745 (G-->C) and IVS-II-849 (A-->C)], albeit described elsewhere, are reported here in Tunisia for the first time. The codon 39 and IVS-I-110 mutations were the two predominant alleles occurring at frequencies of 43.8% and 10.8%, respectively. They are presumably the earliest mutations introduced into this country. The codon 39 allele could have been introduced in Tunisia during the Roman occupation. Similarly, the IVS-I-110 mutation might have been introduced by the Turkish and Phoenician influence. Both gene flow and private mutations may account for the diversity of alleles observed in Tunisia. These data provide the background for implementing prevention programs based on genetic counseling and prenatal diagnosis.     

Natural evolution of hepatitis C virus infection in hemodialysis Tunisian patients and CTLA-4 SNP's

AIM: To analyze the polymorphisms of CTLA-4 gene involved in the response against hepatitis C virus(HCV) infection.METHODS: We recruited 500 hemodialysed patients from several hemodialysis centers, all HCV-antibody positive, spread over different regions of Tunisia, as part of a national survey in 2008 conducted in the laboratory of immunology at the Charles Nicolle hospital Tunisia, classified into two groups G1(PCR+) and G2(PCR-) according to the presence or absence of viral RNA. Of these patients, 307 were followed prospectively on a viral molecular level over a period from 2002 to 2008, divided into two groups based on the persistence and viral clearance. PCR-RFLP was performed for the analysis of SNPs(+49) A/G and(+6230) G/A CTLA-4 for these 500 patients and 358 healthy controls.RESULTS: Analysis of clinical and virological charac-teristics of our cohort suggests a nosocomial infection in our hemodialysed patients with transfusion history as a primary risk factor and a predominance of genotype 1b. The haplotype analysis revealed an increase of frequencies of GG(+49)/(CT60) CTLA-4 in the entire patients group compared to controls(P = 0.0036 and OR = 1.42; 95%CI: 1.12-1.79, respectively). This haplotype is therefore associated with susceptibility to HCV infection. CONCLUSION: Our study suggests a possible role of CTLA-4 polymorphisms in the outcome of HCV infection in the Tunisian hemodialysed population.     

First case report of Cohen syndrome in the Tunisian population caused by <Emphasis Type="Italic">VPS13B</Emphasis> mutations

Background

Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. The integrity of the Golgi apparatus requires the presence of the peripheral membrane protein VPS13B that have an essential function in intracellular protein transport and vesicle-mediated sorting.

Case presentation

In this study, we performed whole exome sequencing (WES) in a Tunisian family with two young cases having developmental delay, hypotonia, autism spectrum disorder, ptosis and thick hair and eyebrows. The proposita presented also pigmentory retinopathy. Compound heterozygous mutation in VPS13B gene was detected by WES. This mutation inherited from healthy heterozygous parents, supports an unpredictable clinical diagnosis of Cohen Syndrome. The proband’s phenotype is explained by the presence of compound heterozygous mutations in the VPS13B gene. This finding refined the understanding of genotype-phenotype correlation.

Conclusions

This is the first report of a Tunisian family with Cohen syndrome mutated in the VPS13B gene.

     

Multiple endocrine neoplasia type 1 revealed by a hip pathologic fracture

Clinical Rheumatology - Multiple endocrine neoplasia type 1 is a rare autosomal inherited syndrome that affects a variety of endocrine tissues such as the parathyroid, endocrine pancreas, and...     

Development and Preliminary Evaluation of TFIB,a New Bimodal Prosthetic Group for Bioactive Molecule Labeling

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Aim of the work

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