Background:
The exact relationship between the different TCF7L2 gene polymorphisms
and the development of diabetic nephropathy (DN) remains unclear.
Objective:
To investigate the association of TCF7L2 rs12255372 (G/T) gene polymorphism and diabetic
nephropathy (DN) in patients with type 2 diabetes (T2D).
Methods:
100 patients with T2D (50 patients without DN and 50 patients with DN) and 50 age and
sex-matched healthy controls (HC) were enrolled in the study. Genotyping for the rs12255372 (G>T)
polymorphism in the TCF7L2 gene was performed by real-time PCR.
Results:
The rs12255372 polymorphism showed a statistically significant difference between HC and
patients with and without DN in both the genotype and allele frequency. However, the rs12255372
polymorphism genotype or allele frequency was not statistically different between patients with DN
and those patients without DN. The G allele was found to be higher in patients and the T allele was
higher in HC suggesting that the G allele was the risk allele for developing T2D &DN and that the T
allele was protective.
Conclusion:
rs12255372 TCF7L2 gene polymorphism was strongly associated with type 2 diabetes
mellitus and DN. The association between rs12255372 polymorphism and DN was a mere reflection of
a complicated diabetes mellitus rather than a direct independent association.
Background
Hypoxic ischemic encephalopathy (HIE) is a major cause of mortality and morbidity in neonates. Malondialdehyde (MDH) is a colorless lipid that can be used as a marker for oxidative stress. Cranial ultrasound sensitivity and specificity in detection of neonatal HIE ought to be further investigated. This study aims to detect whether serum (MDH) can be used as an indicator for HIE severity and to assess the role of cranial ultrasound in diagnosis of HIE neurological disorders, correlating ultrasound findings to MDA levels.
Results
Statistically significant differences were found between the serum MDA levels in patients compared to controls as well as among serum MDA in patients with advancing Sarnat stages (I, II, III) P value < 0.001. Statistically significant levels of serum MDA were found in patients with ischemic US findings compared to those with normal scan; 36.4% of cases with ischemic US findings were diagnosed as Sarnat stage II while 63.6% were diagnosed with stage III with a statistically significant difference (P = 0.016).
Conclusion
Cranial ultrasound can be used for diagnosis of neonatal hypoxic ischemic insults, with lower sensitivity in mild cases and increased sensitivity in severe cases; and when combined with measuring serum MDA levels, it can be used as a diagnostic marker and as a predictor for severity of HIE.
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