10 research outputs found

    Frequency of significant fibrosis in various chronic liver diseases: an evaluation with Transient Elastography (TE)

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    INTRODUCTION: Liver biopsy has long been the gold standard to evaluate liver fibrosis. TE was developed as a non- invasive method to assess liver fibrosis by measuring liver stiffness using shear wave velocity. Many studies have proven its’ effectiveness as a method for evaluating liver fibrosis.1-2 The use of TE in UMMC began in 2013. OBJECTIVE: To determine the frequency and aetiology of liver fibrosis and cirrhosis in our local population METHOD: This was a retrospective study conducted at UMMC. Inclusion criteria was all patients who had TE performed from 1 January 2013 to 31 December 2021. Their demographics, clinical characteristics and TE findings were charted. RESULTS: A total of 3066 patients were included, in which 51.7% were males and 48.3% were females. The median CAP value was 271 dB/m. The median E value was 6.5kPa. 11.2% and 11.3% of patients had significant fibrosis (10.1-14.9kPa) and cirrhosis(≥15kPa) respectively. Non-alcoholic fatty liver disease (NAFLD) was noted to be the most common aetiology for fibrosis (32.8%), followed by chronic hepatitis B (CHB) at 25.2%, chronic hepatitis C (CHC) at 6.7% and alcoholic liver disease (ALD) with 1.3%. This finding was also found to be similar in the cirrhosis group (NAFLD 32.5%, CHB 17.2%, CHC 11.9% and ALD 1.4%). 219 DISCUSSION: Our study shows that the most common cause for significant fibrosis and cirrhosis is NAFLD. This is in contrast with previous studies, that reported the most common aetiology being CHB.3-4 This is likely due to the availability of effective treatment for hepatitis B and C. This may also be attributed to the initiation of the national Hepatitis B vaccination program for newborns and the improvement in blood transfusion safety. CONCLUSION: NAFLD has the greatest frequency of fibrosis compared with other aetiologies of liver disease - mainly as there is no effective treatment, unlike viral hepatitis

    Frequency of significant steatosis in various chronic liver diseases: an evaluation with Transient Elastography (TE)

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    INTRODUCTION: TE was developed as a non-invasive method to assess liver fibrosis and steatosis using shear wave velocity. Many studies have proven its’ effectiveness as a method for evaluating liver fibrosis and steatosis.1-2 OBJECTIVE: To determine the prevalence and aetiology of steatosis in our local population. METHOD: This study was conducted as a retrospective review on all patients who had TE performed at UMMC from 1 January 2013 to 31 December 2021. Their demographics, clinical characteristics and TE findings were charted. RESULTS: A total of 3066 patients were included. 51.7% were males and 48.3% were females. The median CAP value was 271 dB/m. The median E value was 6.5kPa. 61.2% of patients had steatosis, with a staggering number of of these patients having significant steatosis (51.8%). 6.3% of patients had S2 steatosis whereas 45.5% of patients had severe (S3) steatosis. Interestingly, in those with S2 steatosis, 34.7% had chronic hepatitis B (CHB), 31.5% had non-alcoholic fatty liver disease (NAFLD), 5.2% with chronic hepatitis C (CHC) and 1% had alcoholic liver disease (ALD). In the S3 steatosis group, 66.7% had NAFLD, followed by ALD (36.6%), CHB (30.1%) and CHC (27.7%). 221 DISCUSSION: It is important to highlight that a large proportion of our patients has significant steatosis. This is likely in keeping with the global rise of obesity and sedentary lifestyle.3 NAFLD is a 4-decades old nomenclature that does not appropriately address the heterogenous pathogenicity of fatty liver disease. Our study reflects this heterogeneity, as it shows that steatosis often co-exists with other diverse aetiologies. CONCLUSION: Whilst NAFLD clearly has the greatest frequency of severe steatosis, it is also present in other aetiologies. These findings support the new terminology of metabolic associated fatty liver disease (MAFLD), which reflects the fact that NAFLD commonly co-exists with other aetiologies

    Targeted gene sanger sequencing should remain the first-tier genetic test for children suspected to have the five common X-linked inborn errors of immunity

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    DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.The Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.http://www.frontiersin.org/Immunologyam2023Paediatrics and Child Healt

    The perception of life insurance agents by the public

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    Life insurance agents have always been perceived to be suffering from an image problem. In Singapore, a social stigma is attached to the role of a life agent. Many studies on how the general public view life insurance agents have initiated in the past. However, no research has been conducted on why individuals perceive life insurance agents as they do. We engaged in this study with the following objectives: a. to provide an objective assessment ofthe public's perception of life insurance agents; b. to distinguish and explain the variables which account for the variance in the public's perception of life insurance agents; c. to recommend if any ways to eradicate the public's apathy towards life insurance agents. We conducted our study with a survey on 200 individuals from the public and a series of interviews with agency managers from the life insurance industry. The team found that a majority of the public perceives life agents unfavourably. The results of the multiple regression analysis revealed that 78 .5% ofthe variance in the perception oflife agents can be significantly explained by eleven independent variables. Thus, the team came to the conclusion that the solution to the image problem of life agents rests in the treatment of the eleven variables. Based on the conclusion, the team recommends to place more importance on after sale service, participation in community activities and active promotion of life insurance products.BUSINES

    Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

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    BackgroundSevere combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis.ObjectiveThe aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID.MethodsFrom 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study.ResultsA total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8 RAG2 mutations, 7 JAK3 mutations, 4 DCLRE1C mutations, 4 IL7R mutations, 2 RFXANK mutations, and 2 ADA mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (n = 57). A total of 29 patients had a positive FH. Candidiasis (n = 27) and bacillus Calmette–Guérin (BCG) vaccine infection (n = 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 × 109/L with over 88% patients below 3 × 109/L. Positive FH was associated with earlier AP by 1 month (p = 0.002) and diagnosis by 2 months (p = 0.008), but not shorter time to diagnosis (p = 0.494). Candidiasis was associated with later AD by 2 months (p = 0.008) and longer time to diagnosis by 0.55 months (p = 0.003). BCG infections were not associated with age or time to diagnosis.ConclusionFH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 × 109/L

    Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore

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    Because of Singapore's unique history of immigration, whole-genome sequence analysis of 4,810 Singaporeans provides a snapshot of the genetic diversity across East, Southeast, and South Asia.</p

    Development of phycology in Malaysia

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