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(1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that mutations in Nk2 homeobox5 (

Introduction: Lung cancer was considered to be rare at the beginning of the 20th century, but it has now reached almost epidemic proportions. It is the leading cause of cancer deaths in developed countries and is also rising at alarming rates in developing countries. Introduction: Coronavirus disease 2019 (COVID-19) is an emerging viral infection without any approved treatment. Investigational therapies for COVID-19 may cause clinically important drug-drug interactions (DDIs). We aimed to study drug-drug interactions (DDIs) and their risk factors in hospitalised COVID-19 patients. Aim: The aim of our study is to establish an effect on serum levels of vascular endothelial growth factor (VEGF) after surgery in lung cancer patients. Methods:This was a prospective study. For the estimation of VEGF, 50 lung cancer patients were studied. Both preoperative and postoperative levels of VEGF were estimated for all subjects. Blood samples were obtained from all cases both preoperatively and postoperatively (four weeks after surgery). Blood samples of 100 age and sex matched healthy controls were collected from the Outpatient Departments of SKIMS to establish normal serum VEGF levels. Conclusion: Our findings show that serum VEGF levels are higher as the tumor stage progresses and tumor size increases, which explains the lower serum VEGF levels observed by us in the operable patient group.

(1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that mutations in Nk2 homeobox5 (NKX2-5) and actin alpha cardiac muscle1 (ACTC1) genes play a key role in CHDs such as atrial and ventricular septum defects. Therefore, the present study evaluates the role of key hotspot mutations in NKX2-5 and ACTC1 genes of congenital cardiac septal defect (CCSD) in ethnic Kashmiri population. (2) Methods: A total of 112 confirmed CHD patients were included in the current study, of which 30 patients were evaluated for mutational analysis for hotspot mutations of NKX2-5 and ACTC1 genes. The total genomic DNA was extracted from the samples (cardiac tissue/blood) and were subjected to amplification for NKX2-5 (exon 1 and 2), and ACTC1 (exon 2) genes by using PCR specific primers to analyze the hotspot mutations in respective exons. The amplified products obtained were sent to Macrogen Korea for sequencing by Sanger’s method. (3) Results: Our results confirmed that not a single mutation was found in either hotspot exon 1 and 2 of NKX2-5 and exon 2 of ACTC1 in the patients included in the current study. Interestingly, a novel synonymous nucleotide variation leading to G > C transversion (GCG > GCC) was found in exon 2 of NKX2-5 gene of CCSD patient. (4) Conclusions: The current findings demonstrated the role of NKX2-5 and ACTC1 in cardiac development. The study will provide an insight in understanding the genetic etiology and highlights the role of newly identified mutations in patients with CDS’s in ethnic Kashmiri population. In silico findings revealed amino acid changes, splice site variation and the creation of new site. Furthermore, the study warrants complete screening of genes involved in CCSDs.

Background: Congenital heart diseases (CHD) are relatively common with a prevalence ranging from 3.7 to 17.5 per 1000 live births. Little is known about genetic link with respect to congenital heart disease. Iroquoise (Irx) homeobox genes have been widely studied and their expression in both developing and adult heart. Author tried to study the role of irx4 and irx5 genes in structural congenital heart disease, keeping the focus on study reported by Cheng Z et al.Methods: Author studied reported mutation site sequences in 25 various congenital heart disease patients and control healthy relatives of patients. It is a unique study and there has not been such a study reported in literature till date. Besides comparison with healthy related controls, author took cardiac tissue biopsy in patients while doing corrective cardiac surgery. However, blood samples were taken from controls due to ease of feasibility.Results: Although, there were no sequence variations in the studied exon regions, but author got a base pair sequence change at 6 bp intron region, which is near the exon splice site in irx4 gene. Besides two ASD patient’s male children (one child each) had ASD prompting us to believe some role of sex linkage. However later needs pedigree analysis and sex chromosome studies for further analysis.Conclusions: Gene sequence in the Kashmiri population is unique. There is possibility of role of irx genes in CHD. ASD might have sex linkage in some.

Background: Right ventricular (RV) dysfunction is a significant cause of morbidity and mortality after surgical correction of RVOT obstruction including tetralogy of Fallot (TOF). Transatrial repair avoids a ventriculotomy (in contrast to the transventricular approach) emphasizing maximal preservation of RV structure and function. We have adopted this technique as less traumatic for the right ventricle. This study evaluates the early surgical results of our approach.Methods: Between January 2005 to January 2014, 77 consecutive patients with RVOT obstruction were referred to our unit for surgical therapy. Of these, 14 were unsuitable for repair and underwent aortopulmonary shunting. In the remaining 63 patients (mean age of 2.67±0.38 years), complete transatrial/transpulmonary repair was performed. Previously placed shunts (four patients) were taken down. In all cases, subpulmonary resection and ventricular septal defect (VSD) closure were accomplished transatrially. In 51 patients, the main pulmonary artery was augmented with an autologous pericardial patch.Results: There were 7 (9%) deaths in this series. No patient required permanent pacemaker. Median ICU and hospital stay were 91 hours and 14 days, respectively. At median follow up of 54 (mean 51±12) months, all patients are asymptomatic, with no significant residual lesion.Conclusions: Transatrial/transpulmonary repair of TOF is associated with remarkably low morbidity and mortality in our early experience.