ABSTRACT
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.
ABSTRACT
Background: Patients with normal pulmonary function tolerate removal of an entire lung without respiratory problems. In patients witth impaired pulmonary function, post resectional function is of importance for the assessment of surgical risk. This necessitates the ability to measure the relative contribution of the parenchyma to be resected to the total lung function and the predicted postoperative lung functions. Objective: To determine preoperative lung functions as assessed with split lung functions and correlates with postsurgical lung functions and to determine the effect of lung resections on spirometric lung function. Material and methods: All those patients planned for lung resection surgery were included in the study. Predicted postoperative FEV1 and FVC were calculated. Preoperative spirometry was performed within a week before surgery. Predicted postoperative values were calculated. Postoperative spirometry was performed at the end of first month, third month, and sixth month for each patient. The relationship between potential predictors and postoperative complications were assessed. The predicted values were correlated with measured values (actual values) during the postoperative follow up. Results: Lobectomy was done in 64 persons. The predicted postoperative FEV1 and FVC correlated well with observed FEV1 and FVC in lobectomy (p<.05). The mean preoperative FEV1/L were 1.8 and the mean predicted postoperative (L) FEV1 were 1.4. The mean FEV1 at 1 month follow up were 1.6 and the mean FEV1 at 3 month follow up were 179.8.
ABSTRACT
Pulmonary lymphangioleiomyomatosis (LAM) is a rare idiopathic, cystic disease. We report a case of LAM who presented with nonchylous, bilateral pleural effusion and progressive respiratory failure.