Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital agenesis or hypoplasia of the uterus and upper vagina in phenotypic females with normal secondary sexual characteristics and a 46,XX karyotype. Atypical MRKH syndrome, or MRKH type II, is associated with extragenital anomalies, particularly renal abnormalities. Its diagnosis may be delayed when overshadowed by complex medical comorbidities. Case: A 19-year-old phenotypic female with CAKUT, complicated by right duplex kidney and end-stage renal failure on continuous ambulatory peritoneal dialysis, was admitted in September 2025 for peritonitis. Further history revealed primary amenorrhea. Physical examination demonstrated preserved pubertal development with Tanner stage III pubic hair and at least Tanner stage IV breast development. Hormonal profile was unremarkable, and chromosomal analysis showed a normal female karyotype (46,XX). Pelvic ultrasonography and computed tomography of the thorax, abdomen, and pelvis demonstrated uterine agenesis. In addition, bilateral oval-shaped heterogeneous soft tissue masses were identified within the paracolic gutters; ultrasonography showed multiple cysts within both masses, and each was associated with a gonadal vein, suggestive of bilateral ectopic gonadal structures on imaging. These findings were consistent with atypical MRKH syndrome type II in the context of underlying renal anomalies. Conclusion This case highlights the importance of evaluating primary amenorrhea even in patients with significant chronic illness. In phenotypic females with CAKUT, associated Müllerian anomalies should be actively considered. Atypical MRKH syndrome type II should be recognized early to enable accurate diagnosis, multidisciplinary follow-up, and appropriate reproductive and psychosocial counseling.
Female ; Cakut ; Mullerian aplasia ; Amenorrhea ; Urinary Tract ; Kidney

Introduction: Adolescence is a crucial period for achieving peak bone mass. Risk factors such as chronic inflammation, endocrine issues, corticosteroid use, and extended immobility can lead to severe secondary osteoporosis and fragility fractures. Case: A 15-year-old female with transfusion-dependent thalassemia had been hospitalized for over a year following severe acute gastroenteritis complicated by septic shock, multiorgan failure, and secondary hemophagocytic lymphohistiocytosis (HLH). She received pulse methylprednisolone therapy for HLH, which was tapered over 6 months. Her clinical course was further complicated by critical illness polyneuropathy and post-infectious bronchiectasis, leading to ventilator dependence and a bedbound state. During regular physiotherapy sessions, she developed a sudden onset of severe left shoulder pain. A radiograph of the left shoulder revealed a closed fracture of the humeral neck. Biochemical evaluation showed normal serum calcium and phosphate levels, adequate vitamin D status, and normal alkaline phosphatase levels. However, follicle-stimulating hormone, luteinizing hormone (LH), and estradiol levels were undetectable, consistent with arrested puberty due to chronic illness. A bone mineral density scan showed a lumbar spine Z-score of −6, indicating severe osteoporosis. She was started on intravenous zoledronate for secondary osteoporosis, and physiotherapy was resumed to improve musculoskeletal strength. Conclusion This patient was treated with bisphosphonate therapy for severe secondary osteoporosis caused by multiple risk factors, including chronic illness, prolonged immobility, corticosteroid use, and hypogonadotropic hypogonadism, with limited potential for spontaneous bone recovery. This case highlights the importance of early endocrine monitoring and bone health assessments to identify impaired bone growth and prevent fragility fractures in high-risk adolescents.
Adolescent ; Humans ; Chronic Disease ; Thalassemia

Introduction: RENI syndrome (renal, endocrine, neurologic, and immune syndrome), also known as sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS), is a rare autosomal recessive disorder caused by pathogenic variants in the SGPL1 gene. This gene encodes sphingosine-1- phosphate lyase, an enzyme responsible for the final step in sphingolipid degradation. Impaired enzyme activity results in the accumulation of sphingolipid intermediates, leading to multisystem involvement affecting the kidneys, adrenal glands, skin, immune system, and nervous system. Frequently reported manifestations include steroid-resistant nephrotic syndrome, primary adrenal insufficiency, ichthyosis, and neurological abnormalities. Case: We report a 15-year-old male with a history of primary adrenal insufficiency diagnosed at age three after presenting with recurrent vomiting and abdominal pain. He was started on steroid replacement therapy and remained stable without episodes of adrenal crisis. He also had ichthyosis requiring dermatological follow-up. During routine surveillance, persistent proteinuria was detected, and urinary protein excretion increased over time. Ultrasound showed renal parenchymal changes despite preserved renal function. Whole-exome sequencing identified a homozygous variant of uncertain significance in the SGPL1 gene, consistent with RENI syndrome. He was started on enalapril for his proteinuria and continues to undergo multidisciplinary follow-ups. Both parents are consanguineous, but were not screened. Mutations in SGPL1 have increasingly been recognized as a monogenic cause of syndromic steroid-resistant nephrotic syndrome, associated with endocrine and dermatological features. Renal histopathology in cases reported often shows focal segmental glomerulosclerosis, reflecting podocyte injury due to disruption of sphingolipid signaling pathways. Early recognition is crucial, as patients need multidisciplinary care. Conclusion This case highlights the importance of considering RENI syndrome in patients presenting with early-onset primary adrenal insufficiency accompanied by renal and dermatological symptoms. Increased clinical awareness and prompt genetic testing can enable earlier diagnosis, guide long-term monitoring, and support appropriate genetic counseling.
Adrenal Insufficiency ; Proteinuria ; Ichthyosis

OBJECTIVES

During the early COVID-19 pandemic (2020 to mid-2021), the Philippine government relied on nonpharmaceutical interventions such as lockdowns and Enhanced Community Quarantine (ECQ). With the emergency use authorization of vaccines, assessing their potential impact became essential. This study develops a Philippine model to evaluate the epidemiologic and economic effects of COVID-19 vaccination, estimating its impact on mortality, hospitalization, and mild/asymptomatic cases under various prioritization strategies, including booster doses and the presence of variants of concern.

A dynamic transmission model (DTM) with an SEIR (Susceptible-Exposed-Infected-Recovered) structure was calibrated using local data, including case numbers, deaths, seroprevalence, vaccination coverage, and intervention costs. The model’s outputs informed a cost-effectiveness analysis (CEA) from health system and societal perspectives over a two-year horizon. Incremental Cost-Effectiveness Ratios (ICERs) were calculated, with costs adjusted to 2020 prices and discount rates of 3%-10% applied. Sensitivity analyses, including one-way and probabilistic approaches, assessed robustness, while a budget impact analysis (BIA) estimated government expenditures in 2020 and 2021.

Without vaccination, daily cases could have peaked at 400,000 between February and May 2021. A vaccination campaign was projected to reduce cases to around 20,000, significantly lowering mortality.  

From the health system perspective, the estimated cost without vaccination was PhP 14.46 trillion, with 93.83 million QALYs. With vaccination, costs dropped to PhP 2.36 trillion, while QALYs increased to 101.79 million. From the societal perspective, costs were PhP 14.68 trillion without vaccination and PhP 2.38 trillion with vaccination, with the same QALY outcomes.

CEA results confirmed that vaccination was cost-saving, with ICERs of -PhP 1,520,727.28 per QALY (health system) and -PhP 1,546,171.63 per QALY (societal). Sensitivity analyses supported these findings, with oneway sensitivity analysis showing minimal impact from parameter changes and probabilistic sensitivity analysis confirming cost-saving outcomes. The BIA estimated government expenditures of PhP 983.45 billion in 2020 and PhP 1.47 trillion in 2021 for the vaccine scenario, lower than the no-vaccine scenario.

Indeed, our modeling has shown that COVID-19 vaccines could mitigate the spread of COVID-19 and provide good value for money.

INTRODUCTION: Workplace safety and health are interrelated - a worker who is not healthy may cause safety lapses at the workplace; conversely, safety lapses could affect the health of the workers. This study was part of a larger Total Workplace Safety and Health (WSH) programme run by the Workplace Safety and Health Council, Singapore. The objectives were to obtain a baseline health profile of workers across four major industries and identify important health risks for targeted workplace interventions. METHODS: Five service providers (SPs) were appointed to run the Total WSH programme. As part of the programme, SPs conducted an anonymous basic health survey among workers of participating companies. RESULTS: The responses of 6,373 respondents from the cleaning, construction, manufacturing, and transport and storage industries were studied. The overall response rate was 62%. Key health issues identified were high rates of obesity (22%) and smoking (24%) and low prevalence of regular exercise and healthy dietary habits. Chronic disease rates were similar to population self-reported rates (hypertension 15%, high lipid 12% and diabetes mellitus 6%). The workers reported high work stress (13%). CONCLUSION Health issues are prevalent in the workforce and may affect work and employee safety. It is increasingly important for employees' health to be considered in risk assessments and prioritised in workplace safety and health management systems and strategies. Health promotion interventions should be targeted, and multilevel and multicomponent initiatives should be integrated with pre-existing occupational safety programmes.
Humans ; Singapore/epidemiology* ; Occupational Health ; Male ; Female ; Adult ; Middle Aged ; Industry ; Workplace ; Health Surveys ; Surveys and Questionnaires ; Smoking/epidemiology* ; Obesity/epidemiology* ; Health Status ; Occupational Stress/epidemiology* ; Young Adult

INTRODUCTION: Despite the exponential increase in microbiome research, knowledge and beliefs about the gut microbiome and faecal microbiota transplantation (FMT) remain unclear. The aim of this study was to identify the extent of knowledge, awareness and perception among the general public regarding the gut microbiome and FMT. METHODS: An online questionnaire on knowledge and beliefs about the gut microbiome and FMT was administered to 1831 participants. Data analysis software was used to generate descriptive statistics and explore associations between knowledge and sociodemographic variables. RESULTS: Even though only 33% of participants had heard of the gut microbiome, more than 92% had consumed probiotic drinks or supplements. While 85% had not heard of the FMT procedure, 72% of respondents would consider having FMT to treat Clostridioides difficile infection (CDI). Willingness to receive FMT depended mainly on recommendation from healthcare providers (77%). Knowledge and awareness regarding the gut microbiome and FMT were relatively low, despite most participants having prior gut health-related behaviours. CONCLUSION This study identified the public's perceptions of FMT and the potential barriers to its uptake. Insights from the study highlight the need for health education to enhance acceptance of FMT and the importance of using information supported by medical professionals to immunise the public against poorly validated science.
Humans ; Fecal Microbiota Transplantation ; Health Knowledge, Attitudes, Practice ; Male ; Female ; Singapore ; Gastrointestinal Microbiome ; Surveys and Questionnaires ; Adult ; Middle Aged ; Young Adult ; Aged ; Clostridium Infections/therapy* ; Adolescent

INTRODUCTION: Comparison of patient health-related quality of life (HRQOL) scores to a reference group is needed to quantify the HRQOL impact of disease or treatment. This study aimed to establish population norms for 2 HRQOL questionnaires-EuroQol 5-dimension 5-level questionnaire (EQ-5D-5L) and European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire-Core Question-naire 30 (EORTC QLQ-C30) according to age, sex and ethnicity-and to explore relationships between the EQ-5D-5L, EORTC QLQ-C30 and sociodemographic characteristics. We used a representative sample of adult Singapore residents aged 21 years and above. METHOD: This study used data collected from a cross-sectional household survey in which 600 adult Singaporeans completed questions on sociodemo-graphic characteristics-the EQ-5D-5L and the EORTC QLQ-C30. Multiple linear regression analyses were conducted to explore associations between sociodemographic characteristics, the EQ-5D-5L scores and the EORTC QLQ-C30 scores. Regression-based population norms were computed for each subgroup using a post-stratification method. RESULTS: In multiple linear regression analysis, age was significantly associated with EQ-5D-5L index and visual analogue scale (VAS) scores, while no sociodemographic characteristics were significantly associated with EORTC QLQ-C30 summary scores. The normative EQ-5D-5L index and VAS scores decreased in adults aged 65 years and above, and EQ-5D-5L index scores were slightly lower in females than males and in non-Chinese than Chinese. The normative EORTC QLQ-C30 summary scores were slightly higher in Chinese than in the non-Chinese group and in the 45-64 age group than other age groups. CONCLUSION This study provides population norms for the EQ-5D-5L and EORTC QLQ-C30 for the general adult population in Singapore. Future studies of patient populations in Singapore using EQ-5D-5L or QLQ-C30 can use these normative data to interpret the HRQOL data collected.
Humans ; Quality of Life ; Singapore ; Male ; Female ; Middle Aged ; Adult ; Cross-Sectional Studies ; Aged ; Surveys and Questionnaires ; Young Adult ; Health Status ; Age Factors ; Linear Models ; Aged, 80 and over

INTRODUCTION: Although pre-exposure prophylaxis (PrEP) has been available in Singapore since 2016, its uptake among gay, bisexual and other men-who-have-sex-with-men (GBMSM) is low. The iPARTY study was established to evaluate the acceptability and feasibility of PrEP and a PrEP teleconsultation service for young GBMSM aged 18 to 29 years. METHOD: A total of 53 young GBMSM were enrolled in the iPARTY study. They had a total of 5 in-person consultations and teleconsultations, at 12-week intervals. Laboratory tests and quarterly baseline surveys were performed to assess PrEP adherence, sexual behaviour, and incidence of human immunodeficiency virus (HIV) and other sexually transmitted infections (STIs). RESULTS: Thirty-five participants completed the entire 12-month follow-up. Most participants had positive experiences with PrEP teleconsultations. There was a statistically significant fall in participants' aggregate Patient Health Questionnaire-9 scores throughout the study. Self-reported PrEP adherence decreased over the course of the study, denoting improved mental health. Although self-reported condom use for anal intercourse and participants' risk perception of HIV decreased after PrEP adoption, there was no statisti-cally significant increase in STI incidence. CONCLUSION This pilot project has shown that PrEP services provide an opportunity for YMSM to access sexual health testing, treatment and counselling, and may even have tangible benefits on the mental health of this population. Teleconsultation is shown to be a suitable platform for the delivery of such services. Collaborative initiatives are crucial to further enhance the affordability and accessibility of PrEP in Singapore, and to improve patient adherence.
Adolescent ; Adult ; Humans ; Male ; Young Adult ; Anti-HIV Agents/administration & dosage* ; Feasibility Studies ; Health Risk Behaviors ; HIV Infections/psychology* ; Incidence ; Medication Adherence ; Mental Health/statistics & numerical data* ; Pilot Projects ; Pre-Exposure Prophylaxis/statistics & numerical data* ; Sexual and Gender Minorities/statistics & numerical data* ; Sexually Transmitted Diseases/prevention & control* ; Singapore/epidemiology* ; Telemedicine/statistics & numerical data* ; Homosexuality, Male/statistics & numerical data*

Heart failure (HF) epidemiology, patient characteristics, and clinical outcomes exhibit substantial regional variations, reflecting diverse etiologies and health system capacities.This review comprehensively analyses these variations, drawing on data from recent global registries and clinical trials. Our review indicates that ischemic and hypertensive heart diseases are prevalent globally but differ in dominance depending on the region. Notably, regions such as Africa and Latin America show higher instances of HF from hypertensive heart disease and Chagas cardiomyopathy, respectively. Moreover, disparities in age and comorbidity profiles across regions highlight younger populations with HF in lowerincome countries compared to older populations in high-income regions. This review also highlights the global disparity in guideline-directed medical and device therapy, underscoring significant underuse in lower-income regions. These insights emphasize the need for targeted HF management strategies considering regional clinical and demographic characteristics to enhance global HF care and outcomes.

Heart failure (HF) epidemiology, patient characteristics, and clinical outcomes exhibit substantial regional variations, reflecting diverse etiologies and health system capacities.This review comprehensively analyses these variations, drawing on data from recent global registries and clinical trials. Our review indicates that ischemic and hypertensive heart diseases are prevalent globally but differ in dominance depending on the region. Notably, regions such as Africa and Latin America show higher instances of HF from hypertensive heart disease and Chagas cardiomyopathy, respectively. Moreover, disparities in age and comorbidity profiles across regions highlight younger populations with HF in lowerincome countries compared to older populations in high-income regions. This review also highlights the global disparity in guideline-directed medical and device therapy, underscoring significant underuse in lower-income regions. These insights emphasize the need for targeted HF management strategies considering regional clinical and demographic characteristics to enhance global HF care and outcomes.