1.Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies.
Peizhen ZHAO ; Zhendong ZHAO ; Haizhu XU
Chinese Journal of Medical Genetics 2026;43(4):248-252
OBJECTIVE:
To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel.
METHODS:
A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55).
RESULTS:
Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development.
CONCLUSION
The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans
;
Infant, Newborn
;
Neonatal Screening/methods*
;
Female
;
Male
;
Lipid Metabolism, Inborn Errors/epidemiology*
;
Acyl-CoA Dehydrogenase/genetics*
;
China/epidemiology*
;
Follow-Up Studies
2.The research agenda-setting for the Department of Health National Specialty Center for Eye Care.
Philippine Journal of Ophthalmology 2026;51(1):17-25
OBJECTIVE
To describe in detail the research agenda-setting process of the Department of Health National Specialty Center for Eye Care with the guidance of the National Institute of Health (NIH) - Department of Clinical Epidemiology.
METHODSA research agenda technical working group (TWG) was organized to spearhead the research agenda setting, in collaboration and guidance of the NIH. After identifying relevant internal and external stakeholders, the TWG drafted a contextual map that served as an overarching framework. Research topics were obtained from the stakeholders and the TWG collated, reviewed and summarized prior to ranking them systematically. Each topic was prioritized through a weighted ranking system evaluating its feasibility, public health benefit, and resource/cost requirements. A final en banc session including the stakeholders was held to formalize the approval of the research agenda. An infographic was developed to serve as a visual guide for consultants and trainees in initiating research.
RESULTSThe TWG tallied 85 unique research topics from both the internal and external stakeholders. These topics encompassed a broad range of areas, including epidemiology, surgical, and medical management, health systems research, economic evaluations of interventions, and occupational/environmental factors.
CONCLUSIONThe 2024-2027 research agenda of the Department of Health National Specialty Center for Eye Care was crafted, with the guidance of the NIH Department of Clinical Epidemiology. The goal was to improve the center's research output by aligning it with stakeholders thereby serving as a research benchmarking tool for the local ophthalmology community
Human ; Epidemiology ; Eye ; Health ; Research
3.Perceptions of teledermatology in the COVID-19 era: are patients ready for it?
Dawn Ai Qun OH ; Yi Wei YEO ; Shiu Ming PANG ; Choon Chiat OH ; Haur Yueh LEE ; Karen Jui Lin CHOO
Singapore medical journal 2025;66(12):640-644
INTRODUCTION:
The COVID-19 pandemic has changed care provision models, with a rapid increase in the adoption of telemedicine to reduce in-person visits. Although there are many benefits to teledermatology, there are also factors that hinder its widespread adoption. We aimed to examine patients' perceptions of teledermatology to identify the barriers to its adoption.
METHODS:
A prospective study was conducted from 15 June to 14 August 2020. Patients were invited to complete a questionnaire in an outpatient dermatology clinic via direct approach by clinical staff or posters posted at the door of consultation rooms.
RESULTS:
Out of 2,276 clinic attendances, 997 survey responses (43.8%) were collected over a 3-month period. When asked if they would change their subsequent visit to teledermatology, 294 (29.5%) patients were keen, 166 (16.6%) were unsure and 537 (53.9%) declined. Significant factors for declining teledermatology were lack of prior exposure to videoconferencing ( P < 0.01) and lower educational level ( P = 0.019). Patients also raised concerns regarding the ability of teledermatology to address medical concerns (32.1%) and indicated a preference for face-to-face consultation (29.7%).
CONCLUSION
Factors that influence patients' decision to adopt teledermatology, such as concerns about its ability to address medical issues, lack of IT literacy or experience in teleconferencing, are modifiable. Targeted strategies such as careful patient selection, a dedicated teleconsultation workflow, and the use of a novel 'teledermatology patient journey' (including a clinic walkthrough at the first visit) and an intuitive audio-enabled user interface, may improve patient perceptions and adoption of teleconsultation service.
Humans
;
COVID-19/epidemiology*
;
Dermatology/methods*
;
Telemedicine
;
Male
;
Female
;
Prospective Studies
;
Middle Aged
;
Adult
;
Surveys and Questionnaires
;
SARS-CoV-2
;
Aged
;
Perception
;
Young Adult
;
Pandemics
;
Skin Diseases/diagnosis*
;
Videoconferencing
4.The epidemiology and distribution of hand fractures in Singapore.
Jin Xi LIM ; Lan Anh Thi LE ; Jared Ze Yang YEH ; Jia Jun Justin BOEY ; Vaikunthan RAJARATNAM
Singapore medical journal 2025;66(9):476-480
INTRODUCTION:
The aim of this study was to elucidate the epidemiology and distribution of hand fractures in Singapore.
METHODS:
A total of 701 hand fractures in 596 patients aged 21 years and above from a single centre were reviewed from 2010 to 2011. Details regarding the patient demographics, occupation, mechanism of injury, associated injuries and treatment were obtained.
RESULTS:
Hand fractures were particularly significant in patients between the ages of 21 and 40 years 58.9% of the total cases. The relative risk of hand fractures in males was 5.5 times greater than that in females. The majority of hand fractures occurred at the workplace (47.7%), with crush injury being the main mechanism of injury (33.6%). The most common locations of hand fracture were the little finger ray (31.2%) and distal phalanges (37.7%). There were 170 cases that underwent surgical fixation, which accounted for 24.3% of all fractures. Fixation rate was similar for both closed and open fractures but was significantly higher in the proximal and middle phalanges compared to the distal phalanx and metacarpal ( P < 0.001). With regards to surgical fixation methods, wires were commonly used in either tuft fractures (100.0%) or intra-articular fractures (69.9%), whereas plates and screws were commonly used in shaft fractures (65.5%).
CONCLUSION
The most significant population that sustained hand fractures in Singapore are young to middle-aged males who are skilled manual workers. The most commonly involved ray and location of hand fractures are the little finger ray and the distal phalanges, respectively, as they are in a relatively more exposed location.
Humans
;
Singapore/epidemiology*
;
Male
;
Female
;
Adult
;
Middle Aged
;
Fractures, Bone/surgery*
;
Hand Injuries/surgery*
;
Young Adult
;
Aged
;
Hand Bones/injuries*
;
Retrospective Studies
;
Fracture Fixation, Internal
5.Association of COVID-19 'circuit breaker' with higher rates of elderly trauma admissions.
Yee Har LIEW ; Zhenghong LIU ; Mian Jie LIM ; Pei Leng CHONG ; Norhayati Bte Mohamed JAINODIN ; Teng Teng PEH ; Jing Jing CHAN ; Sachin MATHUR ; Jeremy Choon Peng WEE
Singapore medical journal 2025;66(2):91-96
INTRODUCTION:
In December 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) virus emerged and caused a worldwide pandemic, leading to measures being imposed by many countries to reduce its transmission. Singapore implemented the 'circuit breaker', which restricted all movements except for access to necessities and healthcare services. We aimed to investigate the impact of lockdown measures on the pattern of trauma and its effects.
METHODS:
An observational, retrospective, single-centre descriptive study was conducted using the trauma registry in Singapore General Hospital. It included patients above 18 years old who presented to the emergency department with trauma and were subsequently admitted. Patients admitted from 1 February 2020 to 31 July 2020 and those admitted during the same timeframe in 2019 were studied. Subgroup analyses were performed for patients aged ≥65 years and those <65 years.
RESULTS:
A total of 1,037 patients were included for analysis. A 17.6% increase in trauma presentations was seen from 2019 to 2020. Patients aged ≥65 years accounted for the rise in admissions. The predominant mechanism of injury was falls at home for older patients and vehicular accidents in patients <65 years. There were no significant differences in injury severity score, intensive care/high-dependency unit admission rates, length of stay, mortality rate, and subsequent need for inpatient rehabilitation.
CONCLUSION
Our study provided information on differences in trauma presentations before and during the COVID-19 pandemic. Further studies are required to better inform on additional precautionary measures needed to reduce trauma and improve safety during future lockdowns and pandemics.
Humans
;
COVID-19/prevention & control*
;
Aged
;
Retrospective Studies
;
Singapore/epidemiology*
;
Male
;
Female
;
Wounds and Injuries/epidemiology*
;
Aged, 80 and over
;
Middle Aged
;
SARS-CoV-2
;
Hospitalization/statistics & numerical data*
;
Adult
;
Emergency Service, Hospital/statistics & numerical data*
;
Registries
;
Accidental Falls/statistics & numerical data*
;
Pandemics
;
Patient Admission/statistics & numerical data*
;
Length of Stay
;
Accidents, Traffic/statistics & numerical data*
6.Association between visual impairment and body mass index in students from rural China.
Hongyu GUAN ; Zhijie WANG ; Yuxiu DING ; Yunyun ZHANG ; Kang DU ; Yaojiang SHI
Singapore medical journal 2025;66(7):362-367
INTRODUCTION:
Visual impairment and obesity remain the major public health issues among school-age students in rural areas of China. Obesity is an underlying risk of vision problems. This study aimed to assess the association between visual impairment and body mass index (BMI) among school-age students in rural northwest China.
METHODS:
This study included 39,385 students from the 4 th to 9 th grade in rural northwest China. From 2018 to 2020, students underwent an assessment of visual acuity (VA) and completed a questionnaire on family demographics, and height and weight measurements. Multiple logistic regression analyses were used to analyse the data.
RESULTS:
The association between visual impairment and BMI groups was significant in the study population ( P = 0.002) and in different groups (at the different educational, provincial and national levels) ( P < 0.001, separately). Multiple logistic regression analyses revealed a positive relationship between visual impairment and obesity in the study population, including those attending primary school, Han students and the residents of Ningxia autonomous region.
CONCLUSION
The association between visual impairment and obesity was significant among school-age students in rural northwest China. There should be implementation of policies to address the problem about visual impairment and obesity among school-age students in rural areas.
Humans
;
China/epidemiology*
;
Body Mass Index
;
Male
;
Female
;
Rural Population
;
Vision Disorders/complications*
;
Child
;
Adolescent
;
Students
;
Surveys and Questionnaires
;
Logistic Models
;
Obesity/complications*
;
Visual Acuity
;
Cross-Sectional Studies
7.National HIV programme testing recommendations.
Chiaw Yee CHOY ; Chen Seong WONG ; P Arun KUMAR ; Raymond Tzer Pin LIN ; Carmen LOW ; Matthias Paul Han Sim TOH ; Flora HUANG ; Dariusz Piotr OLSZYNA ; Yii Ean TEH ; Mei Fong Jaime CHIEN ; Sophia ARCHULETA
Singapore medical journal 2025;66(6):294-300
In recognition of the morbidity and mortality associated with human immunodeficiency virus (HIV), the Joint United Nations Programme on HIV/acquired immunodeficiency syndrome (AIDS) (UNAIDS) aims to end the epidemic by setting and striving to achieve the ambitious 95-95-95 targets. However, Singapore is still not performing well in the first UNAIDS target. The National HIV Programme (NHIVP) developed this set of recommendations based on an adaptation of major international guidelines from the World Health Organization and the US Centers for Disease Control and Prevention. The goals of this recommendation are: (1) to increase the uptake of HIV testing; (2) to allow earlier detection and identification of individuals with unrecognised HIV infection; (3) to facilitate linkage to clinical services; and (4) reduce further transmission of HIV infection in Singapore.
Humans
;
Singapore/epidemiology*
;
HIV Infections/epidemiology*
;
United States
;
HIV Testing
;
Mass Screening
;
World Health Organization
;
Practice Guidelines as Topic
;
Centers for Disease Control and Prevention, U.S.
;
National Health Programs
8.Knowledge of COVID-19 and associated factors among kidney transplant recipients and donors in Singapore.
Ian Tatt LIEW ; Yeli WANG ; Terence KEE ; Ping Sing TEE ; Rupesh Madhukar SHIRORE ; Sobhana THANGARAJU ; Quan Yao HO ; York Moi LU ; Jin Hua YONG ; Fiona FOO ; Eleanor NG ; Xia HE ; Constance LEE ; Shannon BAEY ; Marjorie FOO ; Tazeen Hasan JAFAR
Singapore medical journal 2025;66(2):81-90
BACKGROUND:
Effective interventions during the coronavirus disease 2019 (COVID-19) pandemic require an understanding of patients' knowledge and perceptions that influence their behaviour. Our study assessed knowledge of COVID-19 among kidney transplant recipients and donors, hitherto unevaluated.
METHODS:
We conducted a cross-sectional survey among 325 kidney transplant recipients and 172 donors between 1 May 2020 and 30 June 2020. The survey questionnaire assessed knowledge levels of COVID-19, sociodemographic data, health status, psychosocial impact of COVID-19 and precautionary behaviours during the pandemic.
RESULTS:
The mean COVID-19 knowledge score of the study population was 7.5 (standard deviation: 2.2) out of 10. The mean score was significantly higher among kidney recipients compared to kidney donors (7.9 [1.9] vs. 6.7 [2.6]; P <0.001). Younger age (21-49 vs. ≥50 years) and higher education (diploma and higher vs. secondary and lower) were associated with significantly higher knowledge scores in donors, but not among recipients ( P -interactions ≤0.01). In both kidney recipients and donors, financial concerns and/or social isolation were associated with lower knowledge levels.
CONCLUSIONS
Concerted efforts are needed to improve COVID-19 knowledge in kidney transplant recipients and donors, particularly older donors, donors with lower education and patients with financial concerns or feelings of social isolation. Intensive patient education may mitigate the impact of education levels on COVID-19 knowledge levels.
Humans
;
COVID-19/epidemiology*
;
Kidney Transplantation
;
Middle Aged
;
Singapore/epidemiology*
;
Male
;
Female
;
Adult
;
Cross-Sectional Studies
;
Health Knowledge, Attitudes, Practice
;
Transplant Recipients/psychology*
;
Surveys and Questionnaires
;
Tissue Donors/psychology*
;
SARS-CoV-2
;
Young Adult
;
Aged
;
Pandemics
9.Anxiety in hospitalised families: lessons from the early phase of the COVID-19 pandemic.
Annushkha SINNATHAMBY ; Siau Hwei NG ; Amanda ZAIN ; Liangjian LU ; Celeste YONG ; Xinyi THONG ; Si Min CHAN
Singapore medical journal 2025;66(6):327-332
INTRODUCTION:
In the early phase of the coronavirus disease 2019 (COVID-19) pandemic, children with COVID-19 in Singapore required hospital isolation. We aimed to explore the psychological experiences of children and their caregivers isolated in a tertiary university hospital due to COVID-19.
METHODS:
A prospective mixed-methods design was used to evaluate the psychological status of hospitalised family units with one or more children aged <18 years who had severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Patient medical records were reviewed for demographic and clinical information. Parents and children ≥7 years of age underwent a psychologist-administered telephone-based interview. Self-reported, age-appropriate instruments, Short Mood and Feelings Questionnaire, and Screen for Adult/Child Anxiety-Related Disorders, were used to assess anxiety and depression, respectively. Participants were also interviewed qualitatively.
RESULTS:
Fifteen family units were hospitalised between March 2020 and May 2020. Of these, 13 (73%) family units were recruited. The median age of the children and median hospitalisation duration were 57 months and 21 days, respectively. Median number of COVID-19 polymerase chain reaction swabs performed for each child was eight. All children had asymptomatic to mild SARS-CoV-2 disease. The criteria indicative of anxiety disorder were met by 40% of adults and 80% of children, while the criteria indicative of separation anxiety were met by 60% of parents and 100% of children. One child met the criteria indicative of depression. Uncertainty, separation, prolonged hospitalisation and frequent swabs caused significant reported anxiety.
CONCLUSIONS
Families, especially children, had heightened anxiety while in hospital isolation. Therefore, home-based recovery from COVID-19 and psychological support for children and their families, with focus on early recognition of anxiety disorders, are recommended. We support review of paediatric isolation policy as the pandemic evolves.
Humans
;
COVID-19/epidemiology*
;
Male
;
Child
;
Female
;
Singapore/epidemiology*
;
Anxiety/etiology*
;
Prospective Studies
;
Adolescent
;
Hospitalization
;
SARS-CoV-2
;
Adult
;
Child, Preschool
;
Pandemics
;
Parents/psychology*
;
Caregivers/psychology*
;
Family/psychology*
;
Depression
;
Patient Isolation/psychology*
;
Surveys and Questionnaires
10.Postoperative urinary retention following hip or knee arthroplasty under spinal anaesthesia with intrathecal morphine: a retrospective cohort study.
Elad DANA ; Oz BEN-ZUR ; Sara DICHTWALD ; Guy FEIGIN ; Noa BRIN ; Michael MARKUSHEVICH ; Brian FREDMAN ; Yaron Shraga BRIN
Singapore medical journal 2025;66(9):481-485
INTRODUCTION:
Postoperative urinary retention (POUR) frequently complicates the course of patients following hip and knee arthroplasty. Intrathecal morphine (ITM) was identified as a significant risk factor for POUR. The objective of this study was to investigate the incidence and risk factors for POUR in fast-track total joint arthroplasty (TJA) under spinal anaesthesia (SA) with ITM.
METHODS:
We conducted a retrospective study of our institutional joint registry of patients who underwent primary TJA under SA with ITM between October 2017 and May 2021. Preoperative (baseline demographics) and perioperative data were collected. The primary outcome was the incidence of POUR after 8 h or earlier, either due to lack of voiding or according to patient's complaints of bladder distension. Univariate and adjusted analyses were performed to identify predictors of POUR.
RESULTS:
Sixty-nine patients who underwent total knee arthroplasty (TKA) and 36 patients who underwent total hip arthroplasty (THA) under SA with ITM were included in the study. POUR requiring bladder catheterisation was diagnosed in 21% of patients. Independent predictors of POUR were age over 65 years and male gender.
CONCLUSIONS
SA with ITM for TJA is associated with high rates of POUR in males older than 65 years of age. Other previously identified risk factors such as intraoperative fluid administration or comorbidities may not be as influential.
Humans
;
Retrospective Studies
;
Male
;
Urinary Retention/epidemiology*
;
Arthroplasty, Replacement, Knee/adverse effects*
;
Anesthesia, Spinal/adverse effects*
;
Female
;
Arthroplasty, Replacement, Hip/adverse effects*
;
Morphine/adverse effects*
;
Aged
;
Middle Aged
;
Risk Factors
;
Postoperative Complications/epidemiology*
;
Injections, Spinal
;
Incidence
;
Analgesics, Opioid/adverse effects*
;
Aged, 80 and over


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