RESUMO
To investigate the frequencies of C677T polymorphism in MTHFR gene and G80A polymorphism in RFC gene in obese and no obese Tunisian children and to assess their relation with homocysteine [tHcy], folate and vitamin B12 levels. We have studied 31 obese compared to 22 no obese children. tHcy was assessed by fluorescence-immunoassay ; folate and vitamin B12 by radioimmunoassay. C677T and G80A mutations were detected using pyrosequencing. There were no differences in tHcy levels between obese and no obese, [10,34 +/- 4,86micro moll/l vs11,00 +/- 4,26micro moll/l]. We found no difference for the allelic frequencies of the C677T polymorphism [29.03% vs 30.95%] and of the G80A polymorphism [64.52% vs 59.52%]. Mean levels of tHcy, folic acid and vitamin B12 were not significantly different according to MTHFR and RFC genotypes. We demonstrated no difference in tHcy, folates, vitamin B12 levels and allelic frequencies of C677T and G80A polymorphisms in MTHFR and RFC genes between obese and no obese Tunisian children. These two polymorphisms don't seem to have any impact on homocysteine, folate and vitamin B12 status in the two populations
RESUMO
The aim of this report is to determine frequency and clinical characteristics of Congenital lobar emphysema [CLE] at Children's Hospital of Tunis Cases of CLE managed between January the 1st 1994 until December the 31 St 2004 were reviewed. Amongst 31 cases of cystic pulmonary malformations we report 17 CLE. They were 12 males and 5 females. The mean age at diagnosis was 41/2 months [20 days, 22 months] Symptoms were progressive respiratory distress [n=11]; recurrent attacks of dyspnea [n=5] pulmonary infection [n=1]. Chest X ray and CT scans showed hyper aeration of the affected lobes. Three patients had two affected lobes. CLE was associated to bronchogenic cyst [n=2] and to congenital cardiac anomalies [n=3]. All patients underwent lobectomy. Post operative course was uneventful in 16 children. CLE is an uncommon cause of respiratory distress in neonates and infants. CLE is the most common cystic pulmonary malformation in our institution