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The incidence of mismatch repair (MMR) deficiency in young colorectal cancers (CRC) remains unknown in Asians. This preliminary study assessed the clinicopathological features and efficacy of screening for MMR protein deficiency in young Asian CRC patients.
From January 2006 to October 2009, patients under the age of 50 with immunohistochemical (IHC) staining for MMR proteins in resected CRC specimens were retrieved from a prospective computerised database.
Eighty unrelated patients comprising predominantly 80% Chinese (n = 64), with median age of diagnosis at 41 years (range 22–50 years) had IHC performed. Twenty-three per cent (n=18) of the patients had abnormal IHC staining. Loss of staining for MLH1, MSH2 and MSH6 proteins were observed in 18%, 2% and 6% of tumours respectively. Of the 15 patients who had abnormal staining of MLH1, three had concomitant equivocal staining for MSH6. One tumour specimen had abnormal staining in all 3 proteins. Multivariate analysis revealed that family history was the only significant predictive factor for defective MMR detection (OR 8.06, 95% CI 1.69–38.35, p=0.002). However if Amsterdam criteria alone were to be used, 72% (n=12) of the cohort would have not been detected for MMR gene defects.
The overall burden of germline MMR deficiency in the Singapore population may be as high as 23%. Amsterdam criteria alone are insufficient to detect hereditary non-polyposis colorectal cancer (HNPCC) related patients. The use of IHC staining of at least 3 MMR proteins is a useful screening strategy for HNPCC diagnosis and routine screening of mismatch repair deficiency may be recommended for all young Asian CRC patients.
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Pancreatic cystic lesions may be due to pseudocysts and related inflammatory fluid collections, simple cysts, cystic tumours such as serous cystadenoma, mucinous cystic neoplasm and intraductal papillary mucinous neoplasm, as well as solid tumours with areas of cystic degeneration. The main diagnostic challenge is to distinguish premalignant and malignant cystic lesions from benign cystic lesions. Cross-sectional imaging using computer tomography and magnetic resonance imaging/ magnetic resonance cholangiopancreatography provides the initial morphological characterization. Endoscopic ultrasound (EUS) is an important tool when diagnostic doubts persist and is crucial in the assessment of invasive malignancy. EUS-guided fine needle aspiration and cyst fluid analysis has been shown to be cost-effective for risk stratifying the malignant potential of cystic tumours and the need for surgical resection. In the management of symptomatic pseudocysts and related fluid collections, endoscopic drainage has been established as the preferred technique, with efficacy similar to surgery but lower costs and morbidity.
This article introduces the basic principles of magnetic resonance (MR) perfusion imaging of liver and summarized the currently available literature. Perfusion magnetic resonance imaging (MRI) is a functional imaging technique that quantifies the microcirculatory status of liver parenchyma and liver lesions such as flow, permeability, fractional intravascular volume and fractional interstitial volume. It potentially allows one to (i) detect liver metastases, (ii) assess effectiveness of anti-angiogenic therapy, (iii) assess viable tumour after therapy or ablation, and (iv) diagnose cirrhosis and assess its severity. Further work is required to establish and validate perfusion MRI as a clinical modality.
Non-alcoholic fatty liver disease (NAFLD) comprises a disease spectrum ranging from benign hepatic steatosis to non-alcoholic steatohepatitis with inflammation (NASH) and liver cirrhosis. NAFLD is now recognised as the hepatic manifestation of the metabolic syndrome. Simple steatosis is benign, whereas NASH can progress to cirrhosis with its resultant complications. Liver biopsy remains the gold standard in the diagnosis of NAFLD/NASH. Lifestyle and dietary modifications to achieve sustained weight loss is the cornerstone of NAFLD/NASH treatment.
Colorectal cancer is the most common cancer in Singapore and polyps which are detected during screening colonoscopy are routinely removed. Conventional white light colonoscopy has a substantial miss-rate for polyps and limited accuracy in differentiating neoplastic from non-neoplastic polyps. Dye-based chromoendoscopy and more recent equipment-based image enhanced endoscopic techniques such as narrow-band imaging (NBI) and autofluorescence imaging (AFI) are promising tools to improve polyp detection and optical diagnosis. Current evidence suggests that NBI may not be superior compared to high definition white-light for polyp detection, but it achieves excellent accuracy in polyp characterisation, approaching that of histopathology. AFI is a wide area scanning modality which functions as a red-flag technique to improve polyp detection, although the evidence is still evolving. The ability to accurately characterise polyps with NBI and AFI will guide the management of polyps and in some cases, avoid unnecessary polypectomy and routine histopathology. This has potential to reduce associated costs and risks of polypectomy, and improves on overall efficiency of screening colonoscopy. The review will discuss the technology, current evidence and the issues relevant to the role of NBI and AFI for the detection and optical diagnosis of polyps in colorectal cancer screening.
Gastric carcinoma is the second leading cause of cancer deaths in the world. Its aetiology is closely linked to the bacterial pathogen
The ability to successfully recruit and retain research participants is an important precursor to conducting a successful clinical trial. With respect to participant recruitment, we discuss potential strategies used in well-known and successful research studies to reach out to the targeted populations, including public education on the importance of clinical trials and the use of new media in reaching out to a wider population. The measures used by research studies to engage their participants and their healthcare providers to optimise participant retention are also examined. We conclude by discussing how these strategies may be adapted for use in Singapore.
The immunopathologies of food allergies can involve Immunoglobulin E (IgE), or non-IgE, or have a mixed IgE and non-IgE response. In the past decade, food allergy manifestations have evolved and there have been increased reports of the latter two presentations. A case report of a young child with allergic eosinophilic gastroenterocolitis, with a mixed immune reaction is described. The nutritional management of the condition is reviewed.
Necrotising fasciitis is an uncommon and rapidly progressive infection of the subcutaneous tissues and fascia which results in necrosis. Without prompt and aggressive surgical intervention, it inevitably leads to severe sepsis and multiorgan failure with a high mortality rate. In general, the diagnosis of infection in the elderly is often difficult, regardless of the type of infection. We report a case of necrotising fasciitis in a 95-year-old lady. The patient presented with bowel and urinary symptoms as well as left leg pain suggestive of sciatica. There was no sign of cellulitis and intravenous antibiotic was started for a presumed urinary tract infection. The diagnosis of necrotising fasciitis was made only much later when crepitus was noted in her leg and radiological studies confirmed gas in the soft tissues. The patient and her family declined surgery and she subsequently died from septicaemia. This condition posed a diagnostic dilemma in the absence of fever, sudden onset of severe pain, and cutaneous findings. In order to reduce morbidity and mortality a high degree of suspicion is required to reach an early diagnosis for prompt surgical intervention.
Abdominal pain is a symptom that is commonly encountered in clinical practice. Evaluation of abdominal pain involves the exclusion of a myriad of possible diagnosis. This case illustrates an uncommon cause of abdominal pain and vomiting in a 55-year-old female with diagnostic radiological features.
Each liver function test by itself is neither highly sensitive nor specific but when interpreted together may provide the clinician with useful information about the patient's liver, and may also indicate other health issues such as malnutrition and bone disease.