Genetic Defects in Children with Cardiac Anomalies/Malformations: Noonan and CFC Syndromes.

Cardiac defects presenting in childhood show significant phenotypic and genetic heterogeneity. With availability of advanced genetic technologies, these can be detected early using specialized testing. Prenatal testing is currently feasible with improved ultrasonography and fetal echocardiography. Here, we report two cases of Noonan's and cardiofaciocutaneous syndromes in patients seen in the genetic unit of a tertiary care center presenting with cardiac defect with or without developmental delay, short stature, and dysmorphism. In these conditions, there is also increased risk of malignancy such as juvenile myelomonocytic leukemia. With the advent of next-generation sequencing, definitive diagnosis and counseling is possible in this group of conditions.

Serum Homocysteine Could Be Used as a Predictive Marker for Chronic Obstructive Pulmonary Disease: A Meta-Analysis.

Background: Serum homocysteine (Hcy) level is inversely related with concentration of folic acid, which is an essential micronutrient for metabolism and energy homeostasis. Serum concentrations of Hcy have been reported to have strong correlation with smoking, which is a major risk factor for pathogenesis of chronic obstructive pulmonary disease (COPD) irrespective of ethnicity and gender. Therefore, we performed a systematic review based meta-analysis to evaluate the overall contribution of Hcy in COPD. Method: Published literature on association of serum Hcy with COPD were obtained through conventional web search and eligible literature were selected based on stringent inclusion/exclusion criteria. Continuous variable data was presented as mean and standard deviation. The variable data was analyzed using RevMan 5 statistical tool to meta-analyze mean differences (MD) with 95 % CI for case-control studies. Result: Four case-control studies met the inclusion criteria for this study. A total of 145 COPD subjects and 107 healthy controls were analyzed. Elevated serum homocysteine concentration was found to induce risk for COPD (MD = 3.05). Conclusion: Molecular role of Hcy in COPD pathogenesis or prognosis is not clear but existing literature suggests that smoking disturbs folic acid metabolism and promotes Hcy accumulation. This study suggested the contribution of Hcy in COPD pathogenesis. However, large scale prospective cohort study and replication studies with more power are warranted to confirm the results.