A 13-year-old male was admitted to undergoing correction of a pulmonary venous baffle stenosis (PVBS) after a modified Senning procedure was performed by the age of five months. Recurrent Pulmonary congestion and pneumonia episodes were followed by echocardiography and cardiac catheterization that confirmed PVBS. Previous catheter balloon angioplasty was attempted, and a surgical revision was done under cardiopulmonary bypass. The bovine pericardial patch used for augmentation of the right atrium, retracted and calcified producing PVBS.
Background: CAT25 (T 25 mononucleotide repeat of the Caspase 2 gene), is a promising DNA marker for detecting microsatellite instability (MSI) in colorectal cancer. CAT25 has the potential to be incorporated into the Bethesda panel, a commonly used panel of DNA microsatellites, or replace it in its entirety. We aimed to develop and validate a high-resolution melting-PCR (HRM-PCR) method for CAT25 instability detection in clinical samples and study its allelic variation in our population.
Methods: The instability of CAT25, BAT25 (a poly(A) tract occurring in the c-kit gene) and BAT26 (a poly(A) tract localized in the hMSH2 gene) microsatellites was assessed in DNA from tumour and peripheral blood obtained from 110 patients with colorectal cancer using HRM-PCR and capillary electrophoresis. Immunohistochemistry (IHC) staining for MSH2, MSH6, MLH1, and PMS2 enzymes was performed on tumours with high MSI. Allelic size variation of CAT25 was analyzed on peripheral blood DNA from 208 healthy volunteers. Results: The HRM-PCR for CAT25 was validated in clinical samples. CAT25 showed a tight range of 64-66 base pairs. Of 110 tumours, 11 had high MSI, later confirmed by IHC. CAT25 defined MSI alone and when used together with BAT25 and BAT26. CAT25 results provided 100% predictive values and p<0.0001 to classify a tumour as having high MSI.A c c e p t e d M a n u s c r i p t 2019-0255 approved by ADB 10 th February 2020 3 Conclusions: We developed and validated a new HRM-PCR assay to detect CAT25instability. Our findings showed a limited allelic size variation of CAT25 in the population and highlight CAT25 as a promising marker for MSI analysis.
A 9-year-old boy with congenital atresia of the left main coronary artery underwent myocardial revascularization. Coarctation of the aorta and ventricular septal defect were diagnosed at the age of 1 year. At age 7 years, the child presented with syncope while exercising. Preoperative evaluation included cardiac catheterization which revealed the unexpected finding of congenital atresia of the left main coronary artery with origin of the circumflex artery from the right coronary artery. Surgical correction included myocardial revascularization by means of left internal mammary artery graft to the anterior descending coronary artery, coarctation resection, and ventricular septal defect repair. The patient recovered uneventfully. We report the details of this extremely rare case with successful concomitant surgical management of the congenital coronary artery anomaly and the associated structural heart disease.
We describe management of a patient with a prenatal diagnosis of absent pulmonary valve, tricuspid atresia, ventricular septal defect, and congenital heart block. Initial treatment consisted of temporary pacemaker implantation, and subsequent palliation included a central shunt during the neonatal period and placement of a permanent pacemaker. At seven months of age, a bidirectional Glenn anastomosis was performed. Cardiac catheterization revealed high cavopulmonary pressures and ventricular dysfunction precluding Fontan completion. Heart transplantation was performed at 3.75 years of age. The patient is alive and well 26 months posttransplantation.
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