Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q Biosynthesis Disorders.

Background And Objectives: Disorders of coenzyme Q (CoQ) biosynthesis comprise a group of 11 clinically and genetically heterogeneous rare primary mitochondrial diseases. We sought to delineate clinical, biochemical, and neuroimaging features of these disorders, together with outcomes after oral CoQ supplementation and the utility of peripheral blood mononuclear cell (PBMNC) CoQ levels in monitoring therapy.

Methods: This was a retrospective cohort study, registered as an audit at a specialist pediatric hospital (Registration Number: 3318) of 14 patients with genetically confirmed CoQ biosynthesis deficiency, including 13 previously unreported cases.

A GIS software-based method to identify public health data belonging to address-defined communities.

Objective: This communication presents the results of defining a tribal health jurisdiction by a combination of tribal affiliation (TA) and case address.

Materials And Methods: Through a county-tribal partnership, Geographic Information System (GIS) software and custom code were used to extract tribal data from county data by identifying reservation addresses in county extracts of COVID-19 case records from December 30, 2019, to December 31, 2022 (n = 374 653) and COVID-19 vaccination records from December 1, 2020, to April 18, 2023 (n = 2 355 058).

Results: The tool identified 1.

Experiences of consumers, carers and clinicians during borderline personality disorder presentations to the emergency department-An integrative review.

Introduction: People with a borderline personality disorder (BPD) diagnosis or symptoms may experience emotional crises which necessitate use of the emergency department (ED). No existing reviews focus specifically on experiences of consumers, carers and clinicians in relation to ED presentations by people diagnosed with BPD.

Aim/question: The aim of this study was to synthesise knowledge on consumer, carer and clinician experiences of BPD in the ED.

Telemonitoring With a Connected Glucose Meter Improves Glycemia Among People With Insulin-Treated Type 2 Diabetes.

Background: Delayed initiation and inadequate titration remain critical challenges to optimizing insulin therapy in type 2 diabetes (T2D). We aimed to study whether hemoglobin A1c (HbA1c) can be lowered in people with insulin-treated T2D using telemonitoring.

Methods: This single-center study recruited adults with greater than or equal to six months of diabetes, greater than or equal to three months of insulin therapy, HbA1c ≥8.

Satisfaction of patients with diabetic kidney disease with traditional chinese medicine physician visits.

Background: Patient-centred care is an important part of quality healthcare and patient satisfaction has been shown to be associated with improved clinical outcomes. We aim to explore the satisfaction of patients with diabetic kidney disease (DKD) with their visits to the TCM physician and its association with patients' socio-economic characteristics.

Methods: A questionnaire survey was conducted among patients aged >21 years with DKD.

Baseline characteristics of participants in the Pre-Diabetes Interventions and Continued Tracking to Ease-out Diabetes (Pre-DICTED) Program.

Objective: The Pre-Diabetes Interventions and Continued Tracking to Ease-out Diabetes (Pre-DICTED) Program is a diabetes prevention trial comparing the diabetes conversion rate at 3 years between the intervention group, which receives the incentivized lifestyle intervention program with stepwise addition of metformin, and the control group, which receives the standard of care. We describe the baseline characteristics and compare Pre-DICTED participants with other diabetes prevention trials cohort.

Research Design And Methods: Participants were aged between 21 and 64 years, overweight (body mass index (BMI) ≥23.

COVID-19 pandemic unmasking cardiovascular risk factors and non-communicable diseases among migrant workers: a cross-sectional study in Singapore.

Objectives: This study aims to report the prevalence of cardiovascular risk factors (CVRFs) and other non-communicable diseases among migrant workers in Singapore admitted for COVID-19 infection, to highlight disease burden and the need for changes in health screening and healthcare delivery in this unique population.

Setting: The study was conducted in the largest tertiary hospital in Singapore.

Design: Retrospective cross-sectional study.

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

The SLC25A26 gene encodes a mitochondrial inner membrane carrier that transports S-adenosylmethionine (SAM) into the mitochondrial matrix in exchange for S-adenosylhomocysteine (SAH). SAM is the predominant methyl-group donor for most cellular methylation processes, of which SAH is produced as a by-product. Pathogenic, biallelic SLC25A26 variants are a recognized cause of mitochondrial disease in children, with a severe neonatal onset caused by decreased SAM transport activity.

Trends in cardiovascular risk factors and treatment goals in patients with diabetes in Singapore-analysis of the SingHealth Diabetes Registry.

Background: Asian populations are at high risk of diabetes and related vascular complications. We examined risk factor control, preventive care, and disparities in these trends among adults with diabetes in Singapore.

Methods: The sample included 209,930 adults with diabetes aged≥18 years from a multi-institutional SingHealth Diabetes Registry between 2013 and 2019 in Singapore.

Non-steroidal anti-inflammatory drugs and risk of acute adverse renal outcomes in diabetes and diabetic kidney disease.

Background: Individuals with diabetes mellitus (DM) may be susceptible to non-steroidal anti-inflammatory drug (NSAID)-induced acute kidney injury (AKI) but data on NSAID-related adverse renal events is sparse.

Objective: We aimed to evaluate the risk of acute kidney injury and/or hyperkalemia after systemic NSAID among individuals with DM and diabetic chronic kidney disease (CKD).

Methods: Retrospective cohort study of 3896 adults with DM with incident prescriptions between July 2015 and December 2017 from Singapore General Hospital and SingHealth Polyclinics.

The Pre-Diabetes Interventions and Continued Tracking to Ease-out Diabetes (Pre-DICTED) program: study protocol for a randomized controlled trial.

Background: Community-based diabetes prevention programs varied widely in effectiveness, and the intervention strategy consisting of lifestyle interventions, stepwise addition of metformin, and financial incentives has not been studied in real-world clinical practice settings. The Pre-Diabetes Interventions and Continued Tracking to Ease-out Diabetes (Pre-DICTED) trial is a pragmatic trial that aims to compare the effectiveness of a community-based stepwise diabetes prevention program with added financial incentives (intervention) versus the standard of care (control) in reducing the risk of type 2 diabetes over 3 years among overweight or obese individuals with pre-diabetes.

Methods: This is an open-label, 1:1 randomized controlled trial which aims to recruit 846 adult individuals with isolated impaired fasting glucose (IFG), isolated impaired glucose tolerance (IGT), or both IFG and IGT from Singapore.

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.

Objective: We hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial disease and to explore whether any of the traditional indicators of mitochondrial disease predict a confirmed genetic diagnosis.

Methods: We investigated a cohort of 85 pediatric patients using clinical exome sequencing and compared the results with the outcome of traditional diagnostic tests, including biochemical testing of routine parameters (lactate, alanine, and proline), neuroimaging, and muscle biopsy with histology and respiratory chain enzyme activity studies.

Results: We established a genetic diagnosis in 36.

Empower to connect and connect to empower: experience in using a humanistic approach to improve patients' access to, and experience of, care in isolation wards during the COVID-19 outbreak in Singapore.

Patients admitted to the isolation ward during the COVID-19 outbreak face multiple psychosocial stressors including the disruptive experience of being in quarantine, anxiety over contracting a newly emerging infectious disease and limited access to their healthcare team. This quality improvement project aims to leverage on technology to improve patients' access to, and experience of, care while in isolation.Patients admitted to two isolation wards in Singapore General Hospital (SGH) between 28 February and 19 March 2020 were each provided an iPad loaded with the MyCare application (app), curated materials and mobile games.

Patient Preferences for Medications in Managing Type 2 Diabetes Mellitus: A Discrete Choice Experiment.

Objectives: To quantify patients' maximum acceptable risk (MAR) of urinary and genital tract infections (UGTI) in exchange for benefits associated with treatments for managing type 2 diabetes mellitus (T2DM).

Methods: In a discrete choice experiment, adult patients with T2DM and currently on metformin and/or sulphonylurea (first-line treatments) were asked to choose between 2 hypothetical medications defined by 6 attributes: years of medication effectiveness in controlling blood glucose, weight reduction, UGTI risk, risk of hospitalization from heart failure, all-cause mortality risk, and out-of-pocket medication cost. We used latent class logistic regression parameters to estimate the conditional relative importance of treatment attributes and MAR of UGTI for various treatment benefits.

Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction.

Robust cellular models are key in determining pathological mechanisms that lead to neurotoxicity in Huntington's disease (HD) and for high throughput pre-clinical screening of potential therapeutic compounds. Such models exist but mostly comprise non-human or non-neuronal cells that may not recapitulate the correct biochemical milieu involved in pathology. We have developed a new human neuronal cell model of HD, using neural stem cells (ReNcell VM NSCs) stably transduced to express exon 1 huntingtin (HTT) fragments with variable length polyglutamine (polyQ) tracts.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Purpose: Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history of this disease.

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.

Abdominal muscle recruitment and its effect on the activity level of the hip and posterior thigh muscles during therapeutic exercises of the hip joint.

Abdominal exercise has been advocated to improve the protection of the spine and neuromuscular efficiency of the limb movements. The purpose of this study was to examine the effect of enhanced contraction of internal oblique and transversus abdominis (IO/TrA) on the activity level of the hip and posterior thigh muscles during therapeutic hip exercises. Twenty healthy females were required to perform eight hip exercises under two conditions, natural versus enhanced IO/TrA contraction conditions.

Psychometric validation of the Hypoglycemia Fear Survey-II (HFS-II) in Singapore.

Objective: We conducted a cross-sectional study to adapt and validate the Hypoglycemia Fear Survey-II (HFS-II) for use in Singapore among persons with type 1 and 2 diabetes mellitus.

Research Design And Methods: A total of 144 patients with type 1 or 2 diabetes on insulin therapy for at least a year completed the HFS-II between September and December 2013 in the Diabetes Center at Singapore General Hospital. We examined the validity (content, concurrent and discriminant validity, and construct validity) and reliability (internal consistency and test-retest reliability) of the instrument.