ABSTRACT
Nephroblastoma is the most frequent renal tumor in childhood population. Rarely, it can occur in adults. In this case, the diagnosis is frequently challenging for pathologists. No standard guidelines are available for this neoplasm in adults. It needs multidisciplinary collaboration for optimal management. Herein we report a 26-year-old man presenting with a non-metastatic right nephroblastoma. He underwent a radical nephrectomy. He is currently in complete remission after a follow-up of 18 months.
ABSTRACT
BACKGROUND: Hyperhomocysteinemia is known as an independent-risk factor for coronary-artery disease (CAD). However, the effect of homocystein metabolic enzymes polymorphisms on CAD is still controversed. We investigated the relation between homocystein metabolic key enzymes polymorphisms, homocystenemia and coronary stenosis in a Tunisian population. METHODS: Samples were collected from 251 CAD patients documented by angiography. Genotyping were performed for C677T methylene-tetrahydrofolate reductase (MTHFR), A2756G methionine-synthase (MS) and 844ins 68 cystathionine-beta-synthase (CBS). We measured fasting plasma tHcy, folate and vitamin B12. RESULTS: There was significant increase in homocysteinemia for homozygous genotypes of C677T MTHFR (p<0.001) and A2756G MS (p=0.01), but not for 844ins68 CBS (p=0.105). Potential confounders adjusted odds-ratios for significant coronary stenosis, associated with MTHFR TT, MS GG and CBS insertion, were respectively 1.78 (p=0.041); 2.33 (p=0.036) and 0.87 (p=0.823). The effect of mutated MTHFR genotype was more pronounced on homocysteinemia (21.4+/-9.1 micromol/L; p<0.001) and coronary stenosis (OR=2.73; p=0.033) at low folatemia (< or =6.1 ng/mL). CONCLUSION: MTHFR TT and MS GG genotypes increase tHcy concentration and coronary stenosis risk, especially with low folatemia.
Subject(s)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Coronary Stenosis/genetics , Cystathionine beta-Synthase/genetics , Homocysteine/metabolism , Hyperhomocysteinemia/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Genetic , Female , Homocysteine/blood , Humans , Male , Middle Aged , Risk Factors , TunisiaABSTRACT
OBJECTIVES: The aim of this study was to evaluate infantile cryptosporidiosis prevalence in central Tunisia. POPULATION AND METHODS: Stool samples from 34,020 immunocompetent children were investigated for oocysts through a 12-year study. RESULTS: Cryptotosporidia were detected in 0.32% (108) of samples. Ninety three per cent of children were less than five years old. Incidence was much higher in summer and autumn. Leading clinical symptoms were diarrhea, fever and vomiting. Symptoms spontaneously resolved in all patients. In three cases, infection was asymptomatic. CONCLUSION: Data analysis indicate that cryptosporidiosis is not uncommon in diarrheic central Tunisian children.
