Juvenile hyaline fibromatosis: a case report.

Juvenile hyaline fibromatosis is a rare, hereditary disease with distinct clinical and histopathological features. Clinically, it presents with gingival hypertrophy, pappulonodular skin lesions and joint contractures. Bone involvement is usually an uncommon finding. We report a case of a 2-year-old patient, daughter of consanguineous parents, who presented since the age of 2 months with impairment of mental development, multiple joint contractures, motion limitation and nodules on the scalp. The calvarian lesions were surgically removed, and histopathological examination concluded to juvenile hyaline fibromatosis.

Clinicopathologic characteristics of colorectal cancer with microsatellite instability.

Colorectal cancer (CRC) can be classified according to the level of microsatellite instability (MSI) exhibited by the tumor. The aim of this study was to determine MSI status in CRC from Tunisia and to identify clinical and pathological characteristics of MSI-H tumors. Microsatellite status was determined by polymerase chain reaction amplification using standard markers (BAT25, BAT26, D2S123, D5S346 and D17S250, the Bethesda panel) in 44 CRC cases. Molecular results were correlated with pathological and clinical features. Six CRC cases (13.8%) showed high-level instability (MSI-H), 14 cases had low level instability (MSI-L), and the remainders were stable (MSS). Immunohistochemical analysis showed loss of MSH2 protein in 3 cases among the 6 MSI-H tumors, whereas no silencing of MLH1 or MSH6 was found in any case. Significant differences in age and family history of cancers were observed between MSI-H and MSS/MSI-L groups (p=0.01 and p=0.002). However, statistical analysis showed that there were no significant differences between MSI-H and MSS/MSI-L tumors in terms of tumor location, lymph node involvement and stage of disease. Regarding histological features, MSI-H tumors were more likely to be poorly differentiated (p=0.003), to have a medullary pattern (p=0.005), and to harbor increased numbers of peritumoral lymphocytes (p=0.001). These findings indicate that careful observation of the tumor morphology can assist in the identification of unstable colorectal cancers requiring molecular investigations.

[Analysis of glycosylated A1c hemoglobin by liquid phase chromatography and immunoagglutination]. / Dosage de l'hémoglobine glycosylée A1c par chromatographie en phase liquide et par immunoagglutination.

Glycated hemoglobin A1c assay is performed using HPLC on cation exchange TSK SP 5 PW column. Separation is obtained in 10 minutes using graduated elution with sodium chloride and Bis-Tris buffer. Hb A1c is resolved from the other hemoglobins (F, A0 and S). Reproductibility of method is quite good and correlated with an immunologic method (DCA 2000).

[Manipulations in genetic engineering. Consequences and fields of application]. / Les manipulations en génie-génetique. Incidences et domaines d'application.

The genetic engineering permits to produce useful proteins. Authors describe some aspects of cloning strategies and the principal applications in medical, industrial and agricultural domains.