Right pulmonary artery-left atrial communication presenting with brain abscess: a case report

WOS: 000243778900018PubMed ID: 17290577Direct communication between the right pulmonary artery and left atrium is a very rare vascular malformation. We report a patient with this anomaly. She presented with unexplained cyanosis and brain abscesses. The diagnosis was made with contrast echocardiography and angiography. We treated this anomaly successfully with surgery. Complete cure for this anomaly can be achieved by ligation

Investigation of p53 Tumor Suppressor Gene Mutations in Patients with a Lung Mass Using Sequence Analysis

WOS: 000284798000003Objective: The p53 tumour suppressor gene plays an important role in the regulation of cell proliferation. It is located on the short arm of the 17th chromosome. It has 11 exons and encodes for a tumor suppressor protein called p53 which is 53kD in weight and 393 amino acids in length. This protein, a transcription factor, is an important regulator of cell cycle. Up to date, a number of mutations (75% of which are found between codon 26 and 332) have been detected on p53 gene. Recent researches showed that lung neoplasm resulting from the mutations of p53 gene varied between 33% (adenocarcinoma) and 70% (small cell lung cancer), and it is reported that the hot spots were mainly found at the codons 175, 248, and 273. Material and Methods: In this study, the exons, exonintron junctions, and some intron regions, which are located between exon 4-9 of p53 gene, of 24 patients who had a surgical operation due to a lung mass were examined by automatic DNA sequencing in University of Leipzig. Results: 53 missense and 7 frameshift mutations were detected between 4(th) and 9(th) exons (Codons 36-318) of 18 samples among the 24 samples. Fifty five of these mutations were heterozygous, and five of them were homozygous. Similarly, 12 missense mutations detected as a result of the serial analyses of the region between introns 4-9, and seven of them were heterozygous and 5 were homozygous. Conclusion: Some research regarding p53 gene reported that codon 175, 248, and 273 were hot spots and mutations were frequent in these codons. However we have not seen any mutations in any of these codons in our study. Nucleotide changes at the positions 13432 (5' beginning) and 13999 (3' ending) of 6th intron, which are very important regions, may result in the formation of an abnormal protein. We suppose that other nucleotide changes are not very important due to their heterozygous nature and location.Cukurova UniversityCukurova University [TF.2000-M-17]We would like to thank director of Human Genetics Institution Professor Ursula G. Froster from Faculty of Medicine, Leipzig University, and their research committee for their contributions. This project was supported by the Cukurova University Research Grant TF.2000-M-17