Melatonin ingestion before intradialytic exercise improves immune responses in hemodialysis patients

International Urology and Nephrology - The present study aimed to investigate the effects of melatonin (MEL) intake on systemic inflammation and immune responses during intradialytic exercise....     

Tendon thickening in dialysis-related joint arthritis is due to amyloid deposits at the surface of the tendon

Objectives

Beta-2-microglobulin (β2M) dialysis-related amyloidosis (DRA), a disabiliting joint disease, has been initially reported in patients under long-term dialysis. The incidence and prevalence has significantly decreased with the improvement in dialysis techniques. Here, we attempted to clarify the clinical and MRI features to improve the diagnosis.

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.     

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.