33 results match your criteria: "SingHealth Duke-NUS Medical School.[Affiliation]"

Background: Unplanned reattendances (UR) are an important quality indicator in the emergency department (ED). Understanding the risk factors associated with UR can aid clinicians in optimizing the allocation of time and resources, as well as targeted counselling for this specific group of patients. In this study, we aimed to compare patient characteristics between children who attended a pediatric emergency department (ED) with unplanned reattendances (UR) and those without UR.

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Ossifying fibromyxoid tumour with fibrosarcoma-like features and novel PHF1::HCFC1 gene fusion.

Pathology

December 2024

Department of Pathology, National University Health System, Singapore; Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore; Department of Pathology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. Electronic address:

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Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (PAX6), which codes for a transcription factor that regulates eye development. Four patients from our hospital who presented with ocular phenotypes were recruited for research sequencing with informed consent.

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Background COVID-19 has been the worst pandemic of this century, resulting in economic, social, and educational disruptions. Residency training is no exception, with training restrictions delaying the progression and graduation of residents. We sought to utilize simulation modelling to predict the impact on future cohorts in the event of repeated and prolonged movement restrictions due to COVID-19 and future pandemics of a similar nature.

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Determinants of vitamin B12 deficiency in patients with type-2 diabetes mellitus - A primary-care retrospective cohort study.

BMC Prim Care

April 2023

Duke-NUS Medical School, Centre for Quantitative Medicine, 8 College Road, Singapore, 169857, Republic of Singapore.

Background: Like many developed nations, the prevalence of both older people and type-2 diabetes mellitus (T2DM) in Singapore is rising. This demographic shift predisposes the population to greater risks of both frailty and its complications that can be further aggravated by vitamin B12 deficiency -a highly prevalent associated variable that is potentially modifiable. Indeed, B12 deficiency adversely impacts the neuro-cognitive, haematological, and even the immune systems; jeopardizing our aspirations for successful aging.

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Aim: To explore oral health-related knowledge, abilities, attitudes, practices, and barriers of pediatric oncology nurses at an Asian children's hospital.

Methods: A cross-sectional study was conducted via a self-administered anonymized questionnaire. Data was analyzed to summarize knowledge, confidence, and practice behaviors.

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Clear cell sarcoma of the kidney (CCSK) and primitive myxoid mesenchymal tumour of infancy (PMMTI) are paediatric sarcomas that most commonly harbour internal tandem duplications (ITDs) of exon 15 of the BCOR gene, in the range of 87-114 base pairs (bp). Some cases, instead, have BCOR-CCNB3 or YWHAE-NUTM2 gene fusions. About 10% of cases lack any of these genetic alterations when tested by standard methods.

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Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling. Mosaicism in NF1 can either present as a generalized disease, or in a localized (segmental) manner. Mosaic generalized NF1 may have presentations that are similar to generalized NF1 or have a milder phenotype and hence may be under-recognised in clinical practice.

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Background/aims: Proximal colorectal cancers (CRCs) account for up to half of CRCs. Sessile serrated lesions (SSLs) are precursors to CRC. Proximal location and presence of dysplasia in SSLs predict higher risks of progression to cancer.

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COVID-19's toll on the elderly and those with diabetes mellitus - Is vitamin B12 deficiency an accomplice?

Med Hypotheses

January 2021

SingHealth Polyclinics, Marine Parade Polyclinic, Blk 80 Marine Parade Central, #01-792, Singapore 440080, Singapore; SingHealth Duke-NUS Medical School, Family Medicine Academic Clinical Programme ("FM ACP"), Office of Academic & Clinical Development, 8 College Road, Singapore 169857, Singapore. Electronic address:

COVID-19 exacts a disproportionate toll on both the elderly and those with diabetes; these patients are more likely to require costly intensive care, longer hospitalisation, and die from complications. Nations would thus find it extremely difficult to either lift or sustain socially, economically, and politically damaging restrictions that keep this group of people safe. Without a vaccine, there is thus an urgent need to identify potential modifiable risk factors which can help manage overall fatality or recovery rates.

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Pairing a prognostic target with potential therapeutic strategy for head and neck cancer.

Oral Oncol

December 2020

Department of Sarcoma, Peritoneal and Rare Tumours (SPRinT), Division of Surgery and Surgical Oncology, National Cancer Centre Singapore, 11 Hospital Crescent, Singapore 169610, Singapore; SingHealth Duke-NUS Oncology Academic Clinical Programme, SingHealth Duke-NUS Medical School, 8 College Rd, Singapore 169857, Singapore. Electronic address:

Objectives: We have previously identified and validated a panel of molecular prognostic markers (ATP13A3, SSR3, and ANO1) for Head and Neck Squamous Cell Carcinoma (HNSCC). The aim of this study was to investigate the consequence of ATP13A3 dysregulation on signaling pathways, to aid in formulating a therapeutic strategy targeting ATP13A3-overexpressing HNSCC.

Materials And Methods: Gene Set Enrichment Analysis (GSEA) was performed on HNSCC microarray expression data (Internal local dataset [n = 92], TCGA [n = 232], EMBL [n = 81]) to identify pathways associated with high expression of ATP13A3.

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Unlabelled: Serum potassium is part of routine laboratory tests done for patients with hypertension or diabetes mellitus in primary care. Those found to have raised potassium (K>5.5 mmol/L) are recalled for repeat potassium in emergency departments or primary care clinics.

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Purpose: Hysterectomy is associated with a high incidence of chronic post-hysterectomy pain (CPHP). Pain catastrophizing, a negative cognitive-affective response to pain, is associated with various pain disorders but its role in CPHP is unclear. We aimed to determine the association of high preoperative pain catastrophizing with CPHP development and functional impairment 4 months after surgery.

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Inhibitory effects of xylitol and sorbitol on Streptococcus mutans and Candida albicans biofilms are repressed by the presence of sucrose.

Arch Oral Biol

November 2020

Singapore Oral Microbiomics Initiative, National Dental Research Institute Singapore (NDRIS), National Dental Centre Singapore, SingHealth Duke NUS Medical School, 5 Second Hospital Avenue, Singapore. Electronic address:

Objective: Among the preventive and therapeutic options available for dental caries, sugar alcohols (xylitol and sorbitol) have been widely promoted as oral healthcare products due to its perceived anticariogenic effect. However, the therapeutic efficacy of these sugar alcohols against Streptococcus mutans and Candida albicans in a sucrose supplemented environment, as found in disease-prone conditions in the oral cavity, has not been adequately investigated.

Methods: Single and mixed-species biofilm formation was evaluated in medium with different concentrations of xylitol, sorbitol with or without sucrose supplementation.

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Lactobacillus Plantarum 108 Inhibits Streptococcus mutans and Candida albicans Mixed-Species Biofilm Formation.

Antibiotics (Basel)

August 2020

Singapore Oral Microbiomics Initiative, National Dental Research Institute Singapore (NDRIS), National Dental Centre Singapore, SingHealth Duke NUS Medical School, 5 Second Hospital Avenue, Singapore 168938, Singapore.

is the principal biofilm forming oral pathogen associated with dental caries. Studies have shown that , a commensal oral fungus is capable of forming pathogenic mixed-species biofilms with The treatment of bacterial and fungal infections using conventional antimicrobial agents has become challenging due to the antimicrobial resistance of the biofilm mode of growth. The present study aimed to evaluate the efficacy of secretory components of , a potentially promising probiotic strain, against and single and mixed-species biofilms.

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Background: Single nucleotide polymorphisms (SNPs) of the voltage-gated sodium channel alpha subunit gene (SCN9A) have been associated with pain in various settings. The aim of this study was to investigate the association of the SNPs to evaluate the influence of common gene variants on chronic postoperative pain (CPSP) and other related pain variables in a cohort of patients who underwent a scheduled hysterectomy.

Methods: DNA samples from a cohort of 1,075 patients who underwent a scheduled total hysterectomy in our hospital were genotyped for three common SCN9A SNPs using TaqMan assays.

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Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.

J Neurol Sci

July 2020

Research Laboratory, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address:

Background: Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association with CSS are mostly from patients of European ancestry.

Methods: We performed next-generation sequencing to identify pathogenic variants in patients with congenital disorders from the Genetics clinics.

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Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.

Gene

March 2020

Research Laboratory, KK Women's & Children's Hospital, Singapore; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address:

Article Synopsis
  • - Kabuki syndrome (KS) is a rare genetic disorder marked by unique facial features, growth issues, heart defects, and skeletal problems, primarily caused by mutations in the KMT2D and KDM6A genes.
  • - In a study involving 13 KS patients, researchers confirmed that 9 of them had harmful variants in the KMT2D gene, with most being truncating mutations.
  • - The findings revealed 11 new gene variants related to KS, enhancing understanding of the genetic factors contributing to the condition and highlighting the importance of certain missense variants.
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Turner syndrome in diverse populations.

Am J Med Genet A

February 2020

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed.

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Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.

Eur J Med Genet

February 2020

Department of Paediatrics, KK Women's and Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, Duke-NUS Medical School, Singapore; Institute of Precision Medicine, SingHealth Duke-NUS Medical School, Singapore. Electronic address:

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation.

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Osteogenesis imperfecta, is a genetically and clinically heterogeneous connective tissue disorder that disrupts bone architecture, making it fragile and more prone to fractures. While more than 85% of cases are due to variants in COL1A1 and COL1A2, variants in noncollagen genes have been identified in the remaining cases. The recurring heterozygous variant in IFITM5 (c.

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