Chronic disease self-management competency and care satisfaction between users of public and private primary care in Singapore.

INTRODUCTION: Primary healthcare providers play a crucial role in educating their patients on chronic disease self-management (CDSM). This study aims to evaluate CDSM competency and satisfaction in patients receiving their healthcare from public or private healthcare providers. METHODS: A cross-sectional household study was conducted in a public housing estate using a standardised questionnaire to interview Singaporeans and permanent residents aged 40 years and above, who were diagnosed with at least 1 of these chronic diseases: hyperlipidaemia, hypertension or diabetes mellitus. CDSM competency was evaluated with the Partners In Health (PIH) scale and a knowledge based questionnaire. Satisfaction was evaluated using a satisfaction scale. RESULTS: In general, the 420 respondents demonstrated good CDSM competency, with 314 followed up at polyclinics and 106 by general practitioners (GPs). There was no significant difference between patients of polyclinics and GPs in CDSM competency scores (mean PIH score 72.9 vs 75.1, P=0.563), hypertension knowledge scores (90.9 vs 85.4, P=0.16) and diabetes knowledge scores (84.3 vs 79.5, P=0.417), except for hyperlipidaemia knowledge scores (78.6 vs 84.7, P=0.043). However, respondents followed up by GPs had higher satisfaction rates than did those followed up at polyclinics (odds ratio 3.6, confidence interval 2.28-5.78). Favourable personality of the doctors and ideal consultation duration led to higher satisfaction in the GP setting. A longer waiting time led to lower satisfaction in the polyclinic group. CONCLUSION: Polyclinics and GPs provide quality primary care as evidenced by high and comparable levels of CDSM competency. Redistribution of patients from public to private clinics may result in improvements in healthcare service quality.

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

BACKGROUND: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry. METHODS: We sequenced HCM disease genes in Singaporean patients (n=224) and Singaporean controls (n=3634), compared findings with additional populations and White HCM cohorts (n=6179), and performed in vitro functional studies. RESULTS: Singaporean HCM patients had significantly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%, P<0.0001) but an excess of variants of uncertain significance (24%, P<0.0001), as compared to Whites (pathogenic/likely pathogenic: 31%, excess of variants of uncertain significance: 7%). Two missense variants in thin filament encoding genes were commonly seen in Singaporean HCM (TNNI3:p.R79C, disease allele frequency [AF]=0.018; TNNT2:p.R286H, disease AF=0.022) and are enriched in Singaporean HCM when compared with Asian controls (TNNI3:p.R79C, Singaporean controls AF=0.0055, P=0.0057, genome aggregation database-East Asian AF=0.0062, P=0.0086; TNNT2:p.R286H, Singaporean controls AF=0.0017, P<0.0001, genome aggregation database-East Asian AF=0.0009, P<0.0001). Both these variants have conflicting annotations in ClinVar and are of low penetrance (TNNI3:p.R79C, 0.7%; TNNT2:p.R286H, 2.7%) but are predicted to be deleterious by computational tools. In population controls, TNNI3:p.R79C carriers had significantly thicker left ventricular walls compared with noncarriers while its etiological fraction is limited (0.70 [95% CI, 0.35-0.86]) and thus TNNI3:p.R79C is considered variant of uncertain significance. Mutant TNNT2:p.R286H iPSC-CMs (induced pluripotent stem cells derived cardiomyocytes) show hypercontractility, increased metabolic requirements, and cellular hypertrophy and the etiological fraction (0.93 [95% CI, 0.83-0.97]) support the likely pathogenicity of TNNT2:p.R286H. CONCLUSIONS: As compared with Whites, Chinese HCM patients commonly have low penetrance risk alleles in TNNT2 or TNNI3 but exhibit few clinically actionable HCM variants overall. This highlights the need for greater study of HCM genetics in non-White populations.

A set of molecular markers predicts chemosensitivity to Mitomycin-C following cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for colorectal peritoneal metastasis.

Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) is associated with significant perioperative morbidity and mortality. We aim to generate and validate a biomarker set predicting sensitivity to Mitomycin-C to refine selection of patients with colorectal peritoneal metastasis (CPM) for this treatment. A signature predicting Mitomycin-C sensitivity was generated using data from Genomics of Drug Sensitivity in Cancer and The Cancer Genome Atlas. Validation was performed on CPM patients who underwent CRS-HIPEC (n = 62) using immunohistochemistry (IHC). We determined predictive significance of our set using overall survival as a surrogate endpoint via a logistic regression model. Three potential biomarkers were identified and optimized for IHC. Patients exhibiting lower expression of PAXIP1 and SSBP2 had poorer survival than those with higher expression (p = 0.045 and 0.140, respectively). No difference was observed in patients with differing DTYMK expression (p = 0.715). Combining PAXIP1 and SSBP2 in a set, patients with two dysregulated protein markers had significantly poorer survival than one or no dysregulated marker (p = 0.016). This set independently predicted survival in a Cox regression model (HR 5.097; 95% CI 1.731-15.007; p = 0.003). We generated and validated an IHC prognostic set which could potentially identify patients who are likely to benefit from HIPEC using Mitomycin-C.