STUDY OF KCNJ11 GENE MUTATIONS IN ASSOCIATION WITH MONOGENIC DIABETES OF INFANCY AND RESPONSE TO SULFONYLUREA TREATMENT IN A COHORT STUDY IN EGYPT.

INTRODUCTION: KCNJ11 gene activating mutations play a major role in the development of neonatal diabetes mellitus (NDM). KCNJ 11 gene encodes the Kir 6.2 subunit of ATP- sensitive potassium channel which is a critical regulator of pancreatic beta-cell insulin secretion. AIM: To study KCNJ11 gene mutations in infants with NDM and the effect of sulfonylurea treatment on the glycemic control in patients with KCNJ11 gene mutation. SUBJECTS AND METHODS: Thirty infants with NDM were screened for KCNJ11 gene mutations by DNA sequencing, insulin therapy was replaced by sulfonylurea treatment in patients with mutations. RESULTS: R201C heterozygous mutation was found in one patient who was successfully shifted from insulin therapy to sulfonylurea treatment, while E23k, I337V, and S385C polymorphisms were detected in 14 patients. CONCLUSION: Screening for KCNJ 11 gene mutations could lead to identification of patients with mutations who can be successfully shifted from insulin therapy to sulfonylurea treatment improving their quality of life.

Strategies of making TiO2 and ZnO visible light active.

In modern purification techniques employing semiconductor mediated photooxidation of toxic substances, zinc oxide (ZnO) and titanium dioxide (TiO2) are the most widely used metal oxides due to their unique blend of properties. However, the band edges of these semiconductors lie in the UV region which makes them inactive under visible light irradiation. Researchers have been interested in the modification of electronic and optical properties of these metal oxides for their efficient use in water and air purification under visible light irradiation. Visible light activity has been induced in TiO2 and ZnO by surface modification via organic materials/semiconductor coupling and band gap modification by doping with metals and nonmetals, co-doping with nonmetals, creation of oxygen vacancies and oxygen sub-stoichiometry. This paper encompasses the progress and developments made so far through these techniques in the visible light photocatalysis with TiO2 and ZnO. Recently, nitrogen doping in titania has been extensively carried out and therefore somewhat detailed discussion in this respect has been presented. Visible light activation of titania clusters encapsulated in zeolite-Y by nitrogen doping and incorporation of dye or organic sensitizers inside the zeolite framework, has also been highlighted in this review.

Study of substance P, renin and aldosterone in chronic liver disease in Egyptian children.

UNLABELLED: Substance P is the most powerful endogenous vasodilator peptide produced by the enteric nervous system and partly cleared by the liver. Failure of the diseased liver to metabolize a vasodilator substance may be responsible for the rebound increased plasma level of vasoconstrictor intestinal peptide. AIM: To investigate the plasma level of Substance P and to study its relationship to aldosterone and plasma renin activity changes occurring in pediatric patients with chronic liver disease. METHODS: Forty patients with chronic liver disease and 10 healthy children were tested for AST, ALT, total and direct bilirubin, creatinine, aldosterone, plasma renin activity and plasma level of Substance P. RESULTS: The plasma level of Substance P was increased in all patients with chronic liver disease (119.5+/-68.2 pg/ml) compared to controls (16.2+/-4.6 pg/ml). The aldosterone concentration and plasma renin activity were significantly higher in patients [(84.1+/-38.3 ng/dl) and (11.1+/-7.3 ng/ml/h)] than controls [(8.2+/-3.9 ng/dl) and (2.0+/-1.1 ng/ml/h)]. The highest level of Substance P and aldosterone were observed in glycogen storage disease patients. CONCLUSION: Substance P was found to be increased in chronic liver disease patients; this increase was accompanied by an increase of aldosterone and plasma rennin activity. This correlation raises its potential use as a prognostic marker in chronic liver diseases.