1.Lack of meaningful genotype-phenotype association in SCN1A-related infantile-onset epileptic encephalopathies
Siti Aishah Abdul Wahab ; Yusnita Yakob ; Teik-Beng Khoo ; Sangita Dharshini Terumalay ; Vigneswari Ganesan ; Chee-Ming The ; Nor Azni bin Yahaya ; Hock-Sin Heng ; Manonmani Vaithialingam ; Sau-Wei Wong
Neurology Asia 2017;22(2):99-111
Background & Objective: SCN1A gene which encodes for sodium channel alpha 1 subunit has been
found to be the most common mutated gene in patients with epilepsy. This study aims to characterize the
SCN1A mutations as well as to describe genotype and phenotype association in children with SCN1Arelated
infantile-onset epileptic encephalopathies in Malaysia. Methods: Children with infantile-onset
epileptic encephalopathy mostly suspected to have Dravet syndrome who had mutational analysis for
SCN1A gene from hospitals all over Malaysia were included in the study. Their epilepsy syndrome
diagnosis was classified into severe myoclonic epilepsy in infancy and its variants. Polymerase chain
reaction and bidirectional sequencing were used to identify SCN1A mutations. Results: A total of 38
children with heterozygous mutations were analysed, 22 (57.9%) of which were novel mutations.
Truncated mutations were the most common mutation type (19, 50%). Other mutation types were
missense mutations (14, 36.8%), splice site mutations (4, 10.5%) and in-frame deletion (1, 2.6%). The
mean age of seizure onset was 4.7 months. Seizure following vaccination was observed in 26.3% of
the children. All of them had drug resistant epilepsy. There was no significant association between
the type of mutation with the syndromic diagnosis, age of seizure onset, tendency of the seizures to
cluster or having status epilepticus, mean age when developmental delay was observed and response
to various antiepileptic drugs.
Conclusion: This study expands the spectrum of SCN1A mutations and proves the importance of
SCN1A gene testing in diagnosing infantile-onset epileptic encephalopathies patients. Although, our
study does not support any clinically meaningful genotype-phenotype association for SCN1A-related
infantile-onset epileptic encephalopathies, the clinical characteristics of our cohort are similar to those
that have been described in previous studies.
2.Atypical Ductal Hyperplasia of the Breast on Core Needle Biopsy: Risk of Malignant Upgrade on Surgical Excision
Tiffany Sin Hui BONG ; Jun Kiat THADDAEUS TAN ; Juliana Teng SWAN HO ; Puay Hoon TAN ; Wing Sze LAU ; Tuan Meng TAN ; Jill Su Lin WONG ; Veronique Kiak MIEN TAN ; Benita Kiat TEE TAN ; Preetha MADHUKUMAR ; Wei Sean YONG ; Sue Zann LIM ; Chow Yin WONG ; Kong Wee ONG ; Yirong SIM
Journal of Breast Cancer 2022;25(1):37-48
Purpose:
This study identified factors predicting malignant upgrade for atypical ductal hyperplasia (ADH) diagnosed on core-needle biopsy (CNB) and developed a nomogram to facilitate evidence-based decision making.
Methods:
This retrospective analysis included women diagnosed with ADH at the National Cancer Centre Singapore (NCCS) in 2010–2015. Cox proportional hazards regression was used to identify clinical, radiological, and histological factors associated with malignant upgrade. A nomogram was constructed using variables with the strongest associations in multivariate analysis. Multivariable logistic regression coefficients were used to estimate the predicted probability of upgrade for each factor combination.
Results:
Between 2010 and 2015, 238,122 women underwent mammographic screening under the National Breast Cancer Screening Program. Among 29,564 women recalled, 5,971 CNBs were performed. Of these, 2,876 underwent CNBs at NCCS, with 88 patients (90 lesions) diagnosed with ADH and 26 lesions upgraded to breast malignancy on excision biopsy. In univariate analysis, factors associated with malignant upgrade were the presence of a mass on ultrasound (p = 0.018) or mammography (p = 0.026), microcalcifications (p = 0.047), diffuse microcalcification distribution (p = 0.034), mammographic parenchymal density (p = 0.008). and ≥ 3 separate ADH foci found on biopsy (p = 0.024). Mammographic parenchymal density (hazard ratio [HR], 0.04; 95% confidence interval [CI], 0.005–0.35; p = 0.014), presence of a mass on ultrasound (HR, 10.50; 95% CI, 9.21–25.2; p = 0.010), and number of ADH foci (HR, 1.877; 95% CI, 1.831–1.920; p = 0.002) remained significant in multivariate analysis and were included in the nomogram.
Conclusion
Our model provided good discrimination of breast cancer risk prediction (C-statistic of 0.81; 95% CI, 0.74–0.88) and selected for a subset of women at low risk (2.1%) of malignant upgrade, who may avoid surgical excision following a CNB diagnosis of ADH.
3.THE IMPACT OF COVID-19 PANDEMIC ON THE MENTAL HEALTH OF COLLEGE AND UNIVERSITY STUDENTS
Fazlollah Keshavarzi ; Chia Megan ; Chon Kar Sin ; Chong Chua Wei ; Chong Chun Ming ; Connie Wong Yin Yin
ASEAN Journal of Psychiatry 2021;22(8):1-7
Objectives:
To evaluate the impact of COVID-19 pandemic on the mental health of Malaysian university and pre-university students, especially after the shift to online academic activities, following almost one year of experiencing the pandemic
Methods:
A cross-sectional online survey was conducted among Malaysian pre-university and university students, nationwide, using perceived stress scale-10 questionnaire and another validated 11-construct questionnaire.
Key findings: :
The online questionnaires were filled out by 383 Malaysian pre-university and university students. About 40% of the respondents reported moderate to severe level of loneliness and social isolation. There was a significant correlation between suicidal thoughts and the social isolation. The prevalence of moderate to severe suicidal thoughts (14% of the respondents) was more than the reported prevalence before COVID-19 pandemic. The residential state, gender and ethnicity of the respondents did not show an association with depressive and suicidal thoughts of the respondents.
Conclusion
Loneliness and feeling social isolation were the most prevalent problems, as reported by the students. Suicidal Thoughts are more prevalent, compared to pre-COVID-19 reports. The educators and institution
managers must seek for appropriate methods to address the critical condition.
4.COMPARING SERVICE MODELS: PHARMACIST-ASSISTED TRANSITION OF CARE (TOC) VERSUS STANDARD OF CARE (SOC) TOWARDS EFFECT ON HEALTHCARE RESOURCE UTILIZATION AMONG PATIENTS FROM MEDICAL WARDS
Diana Fui Sing Yap ; Nur Alyaa Khairudin ; Nurul Dinah Afiqah Sabarudin ; Sin Wei Wong
Journal of University of Malaya Medical Centre 2022;25(1):18-26
Introudction:
Suboptimal care transition post-discharge may potentially increase subsequent healthcare system utilization. Transition of care is a service approach to support continuum of patient care after discharge. Objectives: This study aimed to compare the effect of pharmacist-assisted transition of care versus standard care models towards healthcare resource utilization among medical ward patients.
Methods:
A cluster randomized controlled study was conducted among medical ward patients in a Malaysian secondary hospital from July to December 2019. Intervention group received pharmacist-assisted discharge medication reconciliation, bedside discharge medication delivery with counselling and a timely post-discharge callback. Control group followed standard discharge process with medication collection at ambulatory pharmacy without post-discharge phone calls. Study endpoints included pharmacy first refill persistency, resolution on unintended discharge medication discrepancies and 30-days all-cause rehospitalization.
Results:
A total of 168 patients with 84 patients in each arm were recruited. Intervention resulted a higher pharmacy first refill persistency (70.2% versus 50.0%, p<0.05), indicating a lowering in subsequent unscheduled refill rate. Under intervention, consistent rate of resolution from discrepancies (100.0%, IQR 0 versus 100.0%, IQR 67; p<0.05) was demonstrated that corresponded to medication cost-savings of RM6.80 per prescription over control. Unplanned rehospitalization was not significantly different between groups (p>0.05) but towards a trend of 10% reduction after intervention.
Conclusion
Pharmacist-led transition care model demonstrated promising effect towards a reduction in healthcare resource use compared to standard care. Future studies for its standardization across institutions are warranted to facilitate service expansion.
Patient Transfer
5.Transmission modes of severe acute respiratory syndrome coronavirus 2 and implications for infection control: a review.
Sean Wei Xiang ONG ; Kristen K COLEMAN ; Po Ying CHIA ; Koh Cheng THOON ; Surinder PADA ; Indumathi VENKATACHALAM ; Dale FISHER ; Yian Kim TAN ; Boon Huan TAN ; Oon Tek NG ; Brenda Sze Peng ANG ; Yee-Sin LEO ; Michelle Su Yen WONG ; Kalisvar MARIMUTHU
Singapore medical journal 2022;63(2):61-67
The complete picture regarding transmission modes of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is unknown. This review summarises the available evidence on its transmission modes, our preliminary research findings and implications for infection control policy, and outlines future research directions. Environmental contamination has been reported in hospital settings occupied by infected patients, and is higher in the first week of illness. Transmission via environmental surfaces or fomites is likely, but decontamination protocols are effective in minimising this risk. The extent of airborne transmission is also unclear. While several studies have detected SARS-CoV-2 ribonucleic acid in air samples, none has isolated viable virus in culture. Transmission likely lies on a spectrum between droplet and airborne transmission, depending on the patient, disease and environmental factors. Singapore's current personal protective equipment and isolation protocols are sufficient to manage this risk.
COVID-19
;
Hospitals
;
Humans
;
Infection Control/methods*
;
Personal Protective Equipment
;
SARS-CoV-2
6.Chinese Medicine External Therapy Combined with Conventional Drug Treatment for Rheumatoid Arthritis: A Systematic Review and Meta-analysis
Sin Wei Tang ; Zhi Hang Wong ; Ket Li Ho ; Dahlya Qasryna Binti Zulkifli ; Jia Wen Koo ; Yung Chein Yong
International e-Journal of Science, Medicine and Education 2024;18(1):40-65
Introduction:
Chinese medicine (CM) external therapy is commonly used to treat rheumatoid arthritis (RA) in combination with conventional drug. This study aims to provide a comprehensive synthesis on the efficacy of CM external therapy combined with conventional drug treatment in RA.
Methods:
Randomised controlled trials (RCTs) experimenting the efficacy of CM external therapy (acupuncture, moxibustion and CM fumigation) combined with conventional drug in comparison with conventional drug only in RA patients were collected from PubMed, Medline, Cochrane Central of Controlled Trials (CENTRAL), ClinicalTrials.gov, China National Knowledge Infrastructure (CNKI), and Wanfang databases. Quality was assessed using the Cochrane Risk of Bias Tool. The outcome measures which include Disease Activity Score-28 (DAS28), Visual Analogue Scale (VAS), Swollen Joint Count (SJC), Tumour Necrosis Factor (TNF-α), serum levels of C-reactive Protein (CRP) and Erythrocyte Sedimentation Rate (ESR) were analysed using Review Manager 5.4.1 and GRADEpro GDT online software.
Results:
Fifty RCTs fulfilling the criteria were included. Although some level of efficacy was statistically noted on the use of CM external therapies, their certainty levels are mixed, ranging only in between moderate and low.
Conclusions
Mixed levels of certainty has hindered the drawing of conclusion. The addition of CM external therapies to conventional drug treatment may provide some benefits in RA. Further clinical trials with considerations in minimising the risk of bias are recommended to provide more high-quality evidence in the effect of CM external therapies as a complementary treatment in RA.
Medicine, Chinese Traditional
;
Fumigation
;
Meta-Analysis [Publication Type]
;
Moxibustion
;
Arthritis, Rheumatoid
;
Systematic Review [Publication Type]
7.Radiographic features of COVID-19 based on an initial cohort of 96 patients in Singapore.
Hau Wei Wei KHOO ; Terrence Chi Hong HUI ; Salahudeen Mohamed Haja MOHIDEEN ; Yeong Shyan LEE ; Charlene Jin Yee LIEW ; Shawn Shi Xian KOK ; Barnaby Edward YOUNG ; Sean Wei Xiang ONG ; Shirin KALIMUDDIN ; Seow Yen TAN ; Jiashen LOH ; Lai Peng CHAN ; Angeline Choo Choo POH ; Steven Bak Siew WONG ; Yee-Sin LEO ; David Chien LYE ; Gregory Jon Leng KAW ; Cher Heng TAN
Singapore medical journal 2021;62(9):458-465
INTRODUCTION:
Chest radiographs (CXRs) are widely used for the screening and management of COVID-19. This article describes the radiographic features of COVID-19 based on an initial national cohort of patients.
METHODS:
This is a retrospective review of swab-positive patients with COVID-19 who were admitted to four different hospitals in Singapore between 22 January and 9 March 2020. Initial and follow-up CXRs were reviewed by three experienced radiologists to identify the predominant pattern and distribution of lung parenchymal abnormalities.
RESULTS:
In total, 347 CXRs of 96 patients were reviewed. Initial CXRs were abnormal in 41 (42.7%) out of 96 patients. The mean time from onset of symptoms to CXR abnormality was 5.3 ± 4.7 days. The predominant pattern of lung abnormality was ground-glass opacity on initial CXRs (51.2%) and consolidation on follow-up CXRs (51.0%). Multifocal bilateral abnormalities in mixed central and peripheral distribution were observed in 63.4% and 59.2% of abnormal initial and follow-up CXRs, respectively. The lower zones were involved in 90.2% of initial CXRs and 93.9% of follow-up CXRs.
CONCLUSION
In a cohort of swab-positive patients, including those identified from contact tracing, we found a lower incidence of CXR abnormalities than was previously reported. The most common pattern was ground-glass opacity or consolidation, but mixed central and peripheral involvement was more common than peripheral involvement alone.
COVID-19
;
Humans
;
Lung/diagnostic imaging*
;
Radiography, Thoracic
;
Retrospective Studies
;
SARS-CoV-2
;
Singapore
8.EPOSTER • DRUG DISCOVERY AND DEVELOPMENT
Marwan Ibrahim ; Olivier D LaFlamme ; Turgay Akay ; Julia Barczuk ; Wioletta Rozpedek-Kaminska ; Grzegorz Galita ; Natalia Siwecka ; Ireneusz Majsterek ; Sharmni Vishnu K. ; Thin Thin Wi ; Saint Nway Aye ; Arun Kumar ; Grace Devadason ; Fatin Aqilah Binti Ishak ; Goh Jia Shen ; Dhaniya A/P Subramaniam ; Hiew Ke Wei ; Hong Yan Ren ; Sivalingam Nalliah ; Nikitha Lalindri Mareena Senaratne ; Chong Chun Wie ; Divya Gopinath ; Pang Yi Xuan ; Mohamed Ismath Fathima Fahumida ; Muhammad Imran Bin Al Nazir Hussain ; Nethmi Thathsarani Jayathilake ; Sujata Khobragade ; Htoo Htoo Kyaw Soe ; Soe Moe ; Mila Nu Nu Htay ; Rosamund Koo ; Tan Wai Yee ; Wong Zi Qin ; Lau Kai Yee ; Ali Haider Mohammed ; Ali Blebil ; Juman Dujaili ; Alicia Yu Tian Tan ; Cheryl Yan Yen Ng ; Ching Xin Ni ; Michelle Ng Yeen Tan ; Kokila A/P Thiagarajah ; Justin Jing Cherg Chong ; Yong Khai Pang ; Pei Wern Hue ; Raksaini Sivasubramaniam ; Fathimath Hadhima ; Jun Jean Ong ; Matthew Joseph Manavalan ; Reyna Rehan ; Tularama Naidu ; Hansi Amarasinghe ; Minosh Kumar ; Sdney Jia Eer Tew ; Yee Sin Chong ; Yi Ting Sim ; Qi Xuan Ng ; Wei Jin Wong ; Shaun Wen Huey Lee ; Ronald Fook Seng Lee ; Wei Ni Tay ; Yi Tan ; Wai Yew Yang ; Shu Hwa Ong ; Yee Siew Lim ; Siddique Abu Nowajish ; Zobaidul Amin ; Umajeyam Anbarasan ; Lim Kean Ghee ; John Pinto ; Quek Jia Hui ; Ching Xiu Wei ; Dominic Lim Tao Ran ; Philip George ; Chandramani Thuraisingham ; Tan Kok Joon ; Wong Zhi Hang ; Freya Tang Sin Wei ; Ho Ket Li ; Shu Shuen Yee ; Goon Month Lim ; Wen Tien Tan ; Sin Wei Tang
International e-Journal of Science, Medicine and Education 2022;16(Suppl1):21-37