Familial hematological malignancies: ASXL1 gene investigation.

PURPOSE: Familial aggregation among patients with several hematological malignancies has been revealed. This emphasizes the importance of genetic factors. Only few genes predisposing to familial hematological malignancies have been reported until now due to the low occurrence. We have described in previous study PRF1 and CEBPA variants that might contribute to the background of genetic factors, which encourage us to extend our investigations to other cooperating genes. The aim of this study is to determine whether germline additional sex combs-like 1 (ASXL1) gene mutations may be involved? METHODS/PATIENTS: In this study, we investigated the candidate gene ASXL1 by direct sequencing in 88 unrelated Tunisian and French families with aggregated hematological malignancies. RESULTS: We report a new p.Arg402Gln germline missense substitution in two related Tunisian patients which has not been previously described. We identified here this variant for the first time in non-Hodgkin lymphoma. The p.Arg402Gln variant was not found in 200 control chromosomes. In silico analysis has predicted potential deleterious effect on ASXL1 protein. CONCLUSIONS: From an extended candidate genes analyzed in the field of familial hematological malignancies, ASXL1 might be involved. This variant should be considered since a potential damaging effect was predicted by in silico analysis, with a view to develop functional assay in order to investigate the biological assessment.

[Not Available]. / Diagnostic clinique et paraclinique des infections ostéoarticulaires digitales dans les brûlures thermiques de la main.

Infectious complications of finger-joints in association with hand burns are common and dominated by osteoarthritis. However, this issue has hardly ever been addressed in the literature. This ailment can either be identified while patients with extensive burns are undergoing intensive care, or during patient rehabilitation. In the former instance, it is difficult to recognize because patient sedation means the clinical signs are not obvious. In the latter phase, however, the pain, swelling (tumefaction), stiffness and radiological signs are clear. These infections should be diagnosed as soon as possible in order to preserve the function of the hand.

Celiac disease in Tunisia: serological screening in healthy blood donors.

BACKGROUND: Recent epidemiological studies in Europe and in USA using antigliadin antibodies and antiendomysium antibodies for initial screening have shown that the overall prevalence of celiac disease (CD) is about 1:200 (0.5%). AIM: To screen for CD in healthy blood donors in Tunisia. PATIENTS AND METHODS: Sera from 2500 healthy blood donors (median age: 21 years, 70% men and 30% women) were screened for IgG-antigliadin antibodies and IgA-antigliadin antibodies with an enzyme-linked immunosorbent assay. All sera with positive antigliadin antibodies were tested for antiendomysium antibodies using human umbilical cord cryosections as substrate. RESULTS: Seven healthy blood donors (median age: 21 years; four men, three women) have antiendomysium antibodies. The prevalence of antiendomysium antibodies in healthy blood donors in Tunisia is 1:355 (0.28%). CONCLUSIONS: On the basis of a high specificity of the antiendomysium antibodies, it is likely that the seven blood donors identified in this study have CD. These data suggest that CD is frequent in Tunisia.

[Evaluation of the efficacy of a carbon brace ("Corset monocoque carbone respectant la respiration" [CMCR]) preserving lung capacity to treat idiopathic scoliosis in children and adolescents: a retrospective study of 115 patients]. / Evaluation du résultat d'un corset monocoque carbone respectant la respiration (CMCR) dans la scoliose idiopathique chez l'enfant et l'adolescent: étude rétrospective sur 115 patients.

OBJECTIVES: The purpose of this retrospective study was to investigate whether treatment with a carbon brace (CMCR) stops the progression of idiopathic scoliosis in children and adolescents affected by combined or thoraco-lumbar scoliosis. METHOD: We compared clinical features (hump and vital capacity) and radiolographic data (Cobb angle, sacral slope, lumbar lordosis and thoracic kyphosis) at brace set-up and removal in 115 children and adolescents with combined or thoraco-lumbar scoliosis. The impact of the brace was evaluated in 2 subgroups: patients who started the treatment at Risser stages 0, 1 or 2 and those who started the treatment at Risser stages 3 or 4. With 95 patients, a questionnaire was used to evaluate the physical and psychological tolerance of the brace and technical difficulties during treatment with the orthosis. RESULTS: At brace set-up, the immediate angular correction was about 50% compared to the pre-brace angle; the reduction of the vital capacity was weak. After brace removal, radiographic data showed significant improvement in thoraco-lumbar scoliosis and in the lumbar curve of patients with combined scoliosis, although the thoracic curvature of the combined scoliosis was unchanged. No significant efficiency on the hump was observed. CONCLUSION: The CMCR brace can stop the progression of moderate combined or thoraco-lumbar scoliosis in growing children and adolescents, with little consequence to vital capacity, but seems to have no efficacy on the hump. This type of orthosis provides a better outcome in terms of thoracic mobility and vital capacity. The CMCR brace is indicated for children and growing teenagers with flexible, progressive scoliosis. This "mobile" brace definitely has its place in the current therapeutic arsenal.

[Hepatitis C virus antibodies in 34130 blood donors in Tunisian Sahel]. / Les anti V.H.C chez 34130 donneurs de sang du Sahel Tunisien.

Since January 6th 1994 to december 31 1997. We researched hepatitis C Virus antibodies by second and third generation ELISA in 34,130 bloods donors living in "Sahel Tunisien". 193 were positive (0.56%). Only 171 of them were secondary tested by immunoblot assay (anticore, anti NS5, anti NS3, anti NS4). Which was positive in 53 cases (30.9%); in determined (presence of only one antibody) in 78 cases (45.6%) and negative, in 40 cases (23.3%). There was a significant relation between a ratio over than 2.5 in ELISA and immunoblot positivity. Immune response to different hepatitis virus antigens were heterogeneous with predominant in determined profile. (78/171 cases). Most of donors of the last profile had either anti NS5 (32/78) or anti NS3 (33/78) and we excluded them even through usually negative in P.C.R and associated with a very low risk of contamination.

Seropositivity to hepatitis C virus in Tunisian haemodialysis patients.

The prevalence of anti-hepatitis C virus (anti-HCV) antibodies and of hepatitis B markers (HBs antigen, anti-hepatitis B core antigen) was assessed in 63 haemodialysis patients from the Tunisian Sahel. As measured by second generation ELISA assays (Ortho and Organon), the frequency of anti-HCV antibodies was 42% (27/63), while 4 patients (6.3%) were HBs Ag positive and 30 (47.6%) anti-HBc positive. Anti-HCV seropositivity was significantly correlated with duration of dialysis (p = 0.007) and number of blood transfusions (> 10 units, p = 0.0004). Among 12 subjects with a history of abnormal ALAT levels, 10 were anti-HCV positive (p = 0.0016) and the results suggest hepatitis C viral infection to be the main cause of liver disease in haemodialysis patients in Tunisia.