Primary and isolated cutaneous precursor B-lymphoblastic lymphoma in an infant.

Cutaneous lesions may represent the initial sign of various neoplasms in children, including histiocytosis, neuroblastomas, and lymphomas. Primary cutaneous lymphoblastic lymphomas are rare and involve mostly the B-cell phenotype. Herein, we report a case of isolated, primary B-lymphoblastic lymphoma in a 7-month-old infant and emphasize the importance of early diagnosis.

Theses defended at Tunis Faculty of Medecine from 2004 to 2005: Scientific become and predictive factors of publications.

INTRODUCTION: Several theses are supported, every year, in the Faculty of Medicine of Tunis but their scientific become is this day unknown. The most part of specialities have not bibliometric data. OBJECTIVES: This work had for objectives to study the still unknown future of theses of Tunis Faculty of Medecine during 2004-2005, in terms of publication in indexed reviews and to determine the predictive factors of their publication. METHODS: This was a descriptive bibliometric study of theses supported at the Tunis Faculty of Medicine between January 1st, 2004 and december 31st, 2005. The data collected concerned :number of theses, involved specialities, discipline, type of theses, type of study, number of studied cases (<25 ou  25), methodology of the work, identity of the student, the director as well as the number and the rank of one or several directors. The productivity of the various specialities was estimated by two indicators: Ratio thesis-teacher and index of becoming theses. The publication of the theses has been sought in engines "Medline" and "scopus. Predictive factors for publication were sought. RESULTS: Six hundred and thirteen theses were supported, including 57.7% belonged to the medical disciplines. The attributed mention was "very honorable with the congratulations of the jury" in 71,0% of cases and "very honorable with the congratulations of the jury and the proposal at the price of thesis " in 24,0% of the cases. Thirteen comma four pourcent (13.4%) was the rate of publication. These theses were published when the attributed mention was "very honorable with the congratulations of the jury and the proposal at the price of thesis "(p=0.05), when the discipline was community (p <10-3), and when the study was of epidemiological type (p=0.05).The ratio theses-teacher- year was lower than 1 in 70% of cases and the index of becoming theses varied from 0 and 18.7 across all disciplines. The thesis were published in half of the cases in the the review"La Tunisie Médicale". The median of citation was 2 [0-66 citations]. The publication was found thanks to the name of the student which appeared as author in 61.0% of the theses. The student was first author in 12 cases (24.5%). CONCLUSION: The rate of publication of theses of Tunis Faculty of Medecine during 2004-2005 aws little raised by 13.4%. This rate should be considered as a basic figure with regard to wich will be compared the future impact of courses made at present in our Faculty.

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of the XPC mRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.