Prognostic value of immunohistochemical expression profile of epidermal growth factor receptor in urothelial bladder cancer.

We studied epidermal growth factor receptor (EGFR) expression profile in urothelial bladder carcinoma (UBC) which is a complex and heterogeneous disease with a large spectrum of histological aspects and deadly potential. Using immunohistochemistry (IHC), all GI tumors and pTa cases showed a low expression profile of EGFR. However, we note that when the stage of disease is advanced, tumors over-express EGFR. Indeed, 5% and 25% of GII and GIII tumors over-expressed EGFR, respectively. Further, 0% of pTa, 9,5% of pT1, 15% of pT2, 50% of pT3, and 90% of pT4 tumors were shown to be high EGFR expression (HEE). Moreover, we found a statistically significant correlation between the EGFR over-expression and grade and stage (P < 0.05). Thus, EGFR over-expression could be a potential prognostic marker to predict poor outcome in Tunisian patients with UBC.

[Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases]. / Diagnostic biochimique et moléculaire de l'hyperoxalurie primaire de type 1: étude tunisienne à propos de 15 cas.

BACKGROUND: The primary type 1 hyperoxaluria (HP1) is the most frequent and severe form of the primary hyperoxaluriae. It is related to an enzymatic deficit in alanine glyoxylate aminotransferase (AGT). It is a recessive autosomic disease. Rare in Europe, it is responsible for 13% of the end stage renal failure in the Tunisian child. AIM: The aim of this work is to evaluate the biological and molecular examinations contributing with the early diagnosis and the follow-up of the HP1 patients and to test their response to pyridoxin. PATIENTS AND METHODS: A prospective study of 15 children who have oxaluria lower than 500 µmol/l and normal renal function is carried out. The cristalluria study, oxaluria and the glycolate-glycerate urinary ratio were carried out on all the patients. The so-called mutation maghrebean T853 (Ile244 Thr) was detected by direct sequencing of the exon 7 gene AGXT. The response to pyridoxin was tested among 13 patients. RESULTS: The oxaluria concentration was greater or equal to 1000 µmol/l in nine cases (60%) and ranging between 600 and 1000 µmol/l in the remaining cases. The oxaluria flow was significantly high depending on the age. The glycolaturia was high among eight patients (57%). In 61,5% of the cases, the most frequent crystalline species was whewellite (C1). The "maghrebin" mutation was identified in nine patients at the heterozygous state, showing 25% allelic frequency. The response to pyridoxin was observed in the 13 tested cases. CONCLUSION: The HP1 is frequent in our country from where the need for an early diagnosis. The use of simple biochemical tools such as the study of the cristalluria, the morphological analysis of stones and the oxaluria allow to direct the diagnosis towards a HP1, confirmed by the glycolaturia determination. The molecular biology is required in the atypical forms.

[Urinary stones in Tunisian children, based on series of 187 cases]. / La lithiase urinaire chez l'enfant tunisien. Etude à propos de 187 cas.

OBJECTIVE: The aim of this study is to define epidemiologic and structural particularities of urinary stones in Tunisian children. PATIENT AND METHODS: Between 1995 to 2007, 187 stones of Tunisian children were studied. Structural analysis was performed by infrared spectrophotometry. RESULTS: We analyzed 187 stones from 122 boys and 65 girls. Their age ranged from two months to 18 years. Our study shows a male predominance with a sex ratio of 1,88. Stones were renal in 64.8%, ureteral in 20.6% and 14.6% were vesical. Whewellite was the main component (49,2% of stones) with a female predominance. Among phosphatic stones, carbapatite was in the lead (10.7%) followed by struvite (7%), which predominate in male. CONCLUSION: The epidemiological profile of urinary stones in children in Tunisia is situated between that observed in developed countries and that observed in developing countries.

Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation.

The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of cystic fibrosis (CF) is highly heterogeneous in our population, the study of haplotype association with normal and CF chromosomes could be very helpful in cases where one or both mutations remain unidentified. In this study, we analysed with PCR-RFLP and capillary electrophoresis some extra (pJ3.11, KM19 and XV2C) and intragenic (IVS8CA, IVS17bTA and IVS17bCA) polymorphic markers in 50 normal and 10 Tunisian patients carrying the rare E1104X mutation in order to determine the haplotype associated with this mutation. For the extragenic markers, 8 haplotypes were identified. The most frequent of them are the 221 and 112 accounting for 80% of total haplotypes. For the intragenic markers, five haplotypes were present on the E1104X chromosomes. One of them 16-31-13 accounted for 50%. To our knowledge, this is the first work to be interested to the haplotypes linked to the E1104X mutation. This preliminary study of haplotypes could be a helpful method to determine the molecular lesions responsible of this pathology.