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Fulltext Characteristics of acute pancreatitis in University Kebangsaan Malaysia

Nadesan S, Qureshi A, Daud A, Ahmad H

Med J Malaysia, 1999 Jun;54(2):235-41.
PMID: 10972035

We analyzed the characteristics of patients presenting with acute pancreatitis to our unit. A total of 71 patients were admitted to the Surgical Department at University Kebangsaan Malaysia (UKM) over a period of seven years, between January 1990 to December 1996 with acute pancreatitis. There was a fourfold increase in incidence of acute pancreatitis in our hospital from January 1990 to December 1996. The commonest identifiable aetiology was gallstones followed by alcohol. There were two deaths. We conclude that acute pancreatitis is increasingly being diagnosed in our local population. This may be due to either greater awareness or changes in lifestyle of the population.
Treatment of delayed chylothorax complicating oesophagectomy

Nadesan S, Ming TC, Thangaveloo G, Jasmi AY

Asian J Surg, 2005 Apr;28(2):142-4.
PMID: 15851371

A patient with carcinoma of the cardia underwent Ivor-Lewis oesophagogastrectomy. He developed right chylothorax postoperatively, which is a rare complication. Attempts to treat the chylothorax by conservative means and thoracoscopic ligation failed. Finally, pleurodesis using bleomycin successfully sealed the leak and he was discharged.
Missense mutations in MLH1, MSH2, KRAS, and APC genes in colorectal cancer patients in Malaysia

Abdul Murad NA, Othman Z, Khalid M, Abdul Razak Z, Hussain R, Nadesan S, et al.

Dig Dis Sci, 2012 Nov;57(11):2863-72.
PMID: 22669205 DOI: 10.1007/s10620-012-2240-2

BACKGROUND: Colorectal cancer (CRC) is the third most common cancer worldwide with approximately 1 million cases diagnosed annually. In Malaysia, CRC is the second most common cancer in women and ranked first in men. The underlying cause of CRC remains unknown.
AIMS: The aim of this study was to analyze the mutations in genes involved in CRC including MLH1, MSH2, KRAS, and APC genes.
METHODS: A total of 76 patients were recruited. We used the polymerase chain reaction-denaturing high-performance liquid chromatography for the detection of mutations in the mismatch repair (MMR) and APC genes and the PCR single-strand conformation polymorphism for screening of the KRAS gene mutations.
RESULTS: We identified 17 types of missense mutations in 38 out of 76 patients in our patients. Nine mutations were identified in the APC gene, five mutations were detected in the KRAS gene, and two mutations were identified in the MSH2 gene. Only one mutation was identified in MLH1. Out of these 17 mutations, eight mutations (47 %) were predicted to be pathogenic. Seven patients were identified with multiple mutations (3: MSH2 and KRAS, 1: KRAS and APC, 1: MLH1 and APC, 2: APC and APC).
CONCLUSIONS: We have established the PCR-DHPLC and PCR-SSCP for screening of mutations in CRC patients. This study has given a snapshot of the spectrum of mutations in the four genes that were analyzed. Mutation screening in patients and their family members will help in the early detection of CRC and hence will reduce mortality due to CRC.
Fulltext Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, et al.

Nat Genet, 2017 Dec;49(12):1767-1778.
PMID: 29058716 DOI: 10.1038/ng.3785

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.