Performance and diagnostic accuracy of scoring systems in adult patients with suspected appendicitis.

BACKGROUND: This study aims to determine the most accurate appendicitis scoring system and optimal cut-off points for each scoring system. METHODS: This single-centred prospective cohort study was conducted from January-to-June 2021, involving all patients admitted on suspicion of appendicitis. All patients were scored according to the Alvarado score, Appendicitis Inflammatory Response (AIR) score, Raja Isteri Pengiran Anak Saleha (RIPASA) score and Adult Appendicitis score (AAS). The final diagnosis for each patient was recorded. Sensitivity and specificity were calculated for each system. Receiver operating characteristic (ROC) curve was constructed for each scoring system, and the area under the curve (AUC) was calculated. Optimal cut-off scores were calculated using Youden's Index. RESULTS: A total of 245 patients were recruited with 198 (80.8%) patients underwent surgery. RIPASA score had higher sensitivity and specificity than other scoring systems without being statistically significant (sensitivity 72.7%, specificity 62.3%, optimal score 8.5, AUC 0.724), followed by the AAS (sensitivity 60.2%, specificity 75.4%, optimal score 14, AUC 0.719), AIR score (sensitivity 76.7%, specificity 52.2%, optimal score 5, AUC 0.688) and Alvarado score (sensitivity 69.9%, specificity 62.3%, optimal score 5, AUC 0.681). Multiple logistic regression revealed anorexia (p-value 0.018), right iliac fossa tenderness (p-value 0.005) and guarding (p-value 0.047) as significant clinical factors independently associated with appendicitis. CONCLUSION: Appendicitis scoring systems have shown moderate sensitivity and specificity in our population. The RIPASA scoring system has shown to be the most sensitive, specific and easy-to-use scoring system in the Malaysian population whereas the AAS is most accurate in excluding low-risk patients.

Distinctive Clinico-Pathological Characteristics of Colorectal Cancer in Sabahan Indigenous Populations.

BACKGROUND: Malaysia is an ethnically diverse nation, comprising Malay, Chinese, Indian and indigenous groups. However, epidemiological studies on colorectal cancer have mainly focused on the three main ethnic groups. There is evidence that the clinico-pathological characteristics of some cancers may differ in indigenous populations, namely that they occur earlier and behave more aggressively. We aimed to determine if there were similar differences in colorectal cancer, focusing on the indigenous populations of Sabah. METHODS: Histopathological reports of all patients diagnosed with colorectal carcinoma from January 2012 to December 2016 from public hospitals in Sabah were retrieved from the central computerized database of the Pathology Department of Queen Elizabeth Hospital in Kota Kinabalu, Sabah. Supplementary data was obtained from patients' case files from each hospital. Clinico-pathological data were analysed using the IBM SPSS Statistical Software Version 23 for Windows for descriptive statistics (mean, median, ASR, AR, relative risk) and inferential statistics (Chi square test). RESULTS: A total of 696 patients met the inclusion criteria. The median age for colorectal cancer in Sabah was 62 years (95% CI 60.3 to 62.3), with an age specific incidence rate of 21.4 per 100 000 population. The age specific incidence rate in the indigenous populations was 26.6 per 100 000, much lower than the Chinese, at 65.0 per 100 000. The risk of colorectal cancer occurring before the age of 50 was three times higher in the indigenous population compared to the Chinese. The tumours were mainly left-sided (56.5%), adenocarcinoma in histology (98.4%) and moderately differentiated (88.7%). Approximately 79.2% of patients received curative treatment. CONCLUSION: Indigenous populations in Sabah develop colorectal cancer at an earlier age, and present at more advanced stages. This has implications for screening and therapeutic strategic planning. 
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Giant submandibular sialolipoma masquerading as huge goitre: a case report.

BACKGROUND: Sialolipoma is a rare tumour which may arise from both major and minor salivary glands and has recently been described as a variant of salivary gland lipomatous lesions. CASE PRESENTATION: We report a 54-year-old male who presented with a 7-year history of large right anterior neck swelling. He was clinically euthyroid and had no compressive or infiltrative symptoms. He sought medical attention due to the discomfort exerted by the weight of the mass and was keen for excision. The swelling appeared like a goitre but physical examination proved otherwise. Imaging was suggestive of a benign tumour arising from the right parapharyngeal fossa. The mass was surgically excised and was noted to be adherent to part of the submandibular gland. Histopathological examination revealed a new variant of benign adipocytic tumour of salivary gland or sialolipoma arising from the submandibular gland. Besides being the largest sialolipoma to be reported, there are also no reports of giant submandibular sialolipomas masquerading as a huge goitre in appearance. CONCLUSION: Submandibular sialolipomas can present in really large sizes and appear as a giant goitre. It is important to differentiate between benign lipomas from liposarcomas and tailor the management accordingly. Surgical enucleation is the preferred choice of treatment for these benign tumours with low recurrence rates.

Variant Alleles in XRCC1 Arg194Trp and Arg399Gln Polymorphisms Increase Risk of Gastrointestinal Cancer in Sabah, North Borneo.

BACKGROUND: The XRCC1 protein facilitates various DNA repair pathways; single-nucleotide polymorphisms (SNPs) in this gene are associated with a risk of gastrointestinal cancer (GIC) with inconsistent results, but no data have been previously reported for the Sabah, North Borneo, population. We accordingly investigated the XRCC1 Arg194Trp and Arg399Gln SNPs in terms of GIC risk in Sabah. MATERIALS AND METHODS: We performed genotyping for both SNPs for 250 GIC patients and 572 healthy volunteers using a polymerase chain reaction- restriction fragment length polymorphism approach. We validated heterozygosity and homozygosity for both SNPs using direct sequencing. RESULTS: The presence of a variant 194Trp allele in the Arg194Trp SNP was significantly associated with a higher risk of GIC, especially with gastric and colorectal cancers. We additionally found that the variant 399Gln allele in Arg399Gln SNP was associated with a greater risk of developing gastric cancer. Our combined analysis revealed that inheritance of variant alleles in both SNPs increased the GIC risk in Sabah population. Based on our etiological analysis, we found that subjects ≥50 years and males who carrying the variant 194Trp allele, and Bajau subjects carrying the 399Gln allele had a significantly increased risk of GIC. CONCLUSIONS: Our findings suggest that inheritance of variant alleles in XRCC1 Arg194Trp and Arg399Gln SNPs may act as biomarkers for the early detection of GIC, especially for gastric and colorectal cancers in the Sabah population.

Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.

BACKGROUND: Breast cancer is the most common type of cancer affecting Malaysian women. Recent statistics revealed that the cumulative probability of breast cancer and related deaths in Malaysia is higher than in most of the countries of Southeast Asia. Single nucleotide polymorphisms (SNPs) in CYP2E1 (rs6413432 and rs3813867), STK15 (rs2273535 and rs1047972) and XRCC1 (rs1799782 and rs25487) have been associated with breast cancer risk in a meta-analysis but any link in Southeast Asia, including Malaysia, remained to be determined. Hence, we investigated the relationship between these SNPs and breast cancer risk among Malaysian women in the present case-control study. MATERIALS AND METHODS: Genomic DNA was isolated from peripheral blood of 71 breast cancer patients and 260 healthy controls and subjected to polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. RESULTS: Our study showed that the c1/c2 genotype or subjects with at least one c2 allele in CYP2E1 rs3813867 SNP had significantly increased almost 1.8-fold higher breast cancer risk in Malaysian women overall. In addition, the variant Phe allele in STK15 rs2273535 SNP appeared to protect against breast cancer in Malaysian Chinese. No significance association was found between XRCC1 SNPs and breast cancer risk in the population. CONCLUSIONS: This study provides additional knowledge on CYP2E1, STK15 and XRCC1 SNP impact of risk of breast cancer, particularly in the Malaysian population. From our findings, we also recommend Malaysian women to perform breast cancer screening before 50 years of age.

Significant genotype difference in the CYP2E1 PstI polymorphism of indigenous groups in Sabah, Malaysia with Asian and non-Asian populations.

CYP2E1 PstI polymorphism G-1259C (rs3813867) genotype distributions vary significantly among different populations and are associated with both diseases, like cancer, and adverse drug effects. To date, there have been limited genotype distributions and allele frequencies of this polymorphism reported in the three major indigenous ethnic groups (KadazanDusun, Bajau, and Rungus) in Sabah, also known as North Borneo. The aim of this study was to investigate the genotype distributions and allele frequencies of the CYP2E1 PstI polymorphism G-1259C in these three major indigenous peoples in Sabah. A total of 640 healthy individuals from the three dominant indigenous groups were recruited for this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) at G-1259C polymorphic site of CYP2E1 gene was performed using the Pst I restriction enzyme. Fragments were analyzed using agarose gel electrophoresis and confirmed by direct sequencing. Overall, the allele frequencies were 90.3% for c1 allele and 9.7% for c2 allele. The genotype frequencies for c1/c1, c1/c2 and c2/c2 were observed as 80.9%, 18.8%, and 0.3%, respectively. A highly statistical significant difference (p<0.001) was observed in the genotype distributions between indigenous groups in Sabah with all Asian and non-Asian populations. However, among these three indigenous groups, there was no statistical significant difference (p>0.001) in their genotype distributions. The three major indigenous ethnic groups in Sabah show unique genotype distributions when compared with other populations. This finding indicates the importance of establishing the genotype distributions of CYP2E1 PstI polymorphism in the indigenous populations.

RsaI but not DraI polymorphism in CYP2E1 gene increases the risk of gastrointestinal cancer in Malaysians: a case-control study.

OBJECTIVES: Our study aimed to investigate the association of CYP2E1 C-1019T RsaI and T7678A DraI polymorphisms and factors such as age, gender and ethnicity to the risk of gastrointestinal cancer (GIC) in Malaysians. DESIGN: Case-control study. SETTING: Malaysia. PARTICIPANTS: 520 consented healthy blood donors with no previous GIC record and 175 patients with GIC. MEASUREMENTS: C-1019T RsaI and T7678A DraI genotyping of CYP2E1 gene; direct sequencing. RESULTS: This study reveals that the variant c2 allele and carrier with at least one c2 allele of C-1019T single nucleotide polymorphism (SNP) significantly increased the risk of GIC but no significant association was found between T7678A SNP and combined analysis of C-1019T and T7678A SNPs to risk of GIC. The Malaysian Chinese had greater risk of GIC compared with the Malays, Indians and KadazanDusun. An increased risk of GIC was observed in individuals aged >40 years and women had a 2.22-fold and 1.58-fold increased risk of stomach and colorectal cancers, respectively, when compared with men. LIMITATIONS: The future research should be conducted with a larger sample population and including the gene-gene and gene-environmental interactions. CONCLUSIONS: Our study suggests that the rare c2 allele and carrier with at least one c2 allele of CYP2E1 RsaI polymorphism significantly elevated the risk of GIC and may be used as a genetic biomarker for early screening of GIC in Malaysians. The risk age-group has been shifted to a younger age at 40s and women showed a significant greater risk of stomach and colorectal cancers than men.

Breast cancer in Sabah, Malaysia: a two year prospective study.

INTRODUCTION: Malaysian women have a 1 in 20 chance of developing breast cancer in their lifetime. Sabah, formerly known as North Borneo, is part of East Malaysia with a population of 3.39 million and more than 30 ethnic groups. We conducted a 2 year prospective epidemiological study to provide unreported data of breast cancer from this part of the world and to recognise which particular group of patients are more likely to present with advanced disease. METHODS: All newly diagnosed breast cancers seen at the Queen Elizabeth Hospital, Kota Kinabalu, from January 2005 to December 2006 were included in the study. Patient and tumour characteristics, including age, race, education, socioeconomic background, parity, practice of breast feeding, hormonal medication intake, menopausal status, family history, mode of presentation, histology, grade, stage of disease and hormonal receptors status were collected and analysed. RESULTS: A total of 186 patients were seen. The commonest age group was 40 to 49 years old (32.3%). Chinese was the commonest race (30.6%) followed by Kadazan-Dusun (24.2%). The commonest histology was invasive ductal carcinoma (88.4%). Stages at presentation were Stage 0- 4.8%, Stage I- 12.9%, Stage II- 30.1%, Stage III- 36.6% and Stage IV- 15.6%. The estrogen and progesterone receptor status was positive in 59.1% and 54.8% of cases, respectively. 73.7% of Chinese patients presented with early cancer compared to 36.4% of the other races. Patients who presented with advanced disease were also poor, non-educated and from rural areas. 20.4% of patients defaulted treatment; most of them opted for traditional alternatives. CONCLUSIONS: Sabahan women with breast cancer present late. Great efforts are needed to improve public awareness of breast cancer, especially among those who have higher risk of presenting with advanced disease.