Introduction: Early childhood caries (ECC), dental cavities in children younger than 6 years, is common, consequential, and inequitably concentrated among socially disadvantaged children. The World Health Organization and authoritative clinical and public health agencies promote 4 chronic disease management (CDM) approaches that are low-cost and can be delivered in home and community sites: pharmacologic, behavioral, monitoring, and minimally invasive dentistry (MID). The extent of adoption of these approaches among US pediatric dentists is unknown.
View Article and Find Full Text PDFObjective: There have been no well-controlled and well-powered comparative trials of topiramate with other pharmacotherapies for alcohol use disorder (AUD), such as naltrexone. Moreover, the literature is mixed on the effects of two polymorphisms-rs2832407 (in ) and rs1799971 (in )-on response to topiramate and naltrexone, respectively. The authors sought to examine the comparative effectiveness of topiramate and naltrexone in improving outcomes in AUD and to examine the role of the rs2832407 and rs1799971 polymorphisms, respectively, on response to these medications.
View Article and Find Full Text PDFIntroduction: Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism and a preventable cause of premature cardiovascular disease. Current detection rates for this highly treatable condition are low. Early detection and management of FH can significantly reduce cardiac morbidity and mortality.
View Article and Find Full Text PDFDNA sequencing of tumour tissue has become the standard care for many solid cancers because of the option to detect somatic variants that have significant therapeutic, diagnostic and prognostic implications. Variants found within the tumour may be either somatic or germline in origin. Somatic cancer gene panels are developed to detect acquired (somatic) variants that are relevant for therapeutic or molecular characterisation of the tumour, expanding gene panels now include genes which may also inform patient management such as cancer predisposition syndromes (CPS) genes.
View Article and Find Full Text PDFNSW Health is implementing genomics as a mainstream component of clinical care. The strategic, holistic approach is considering infrastructure, data governance and management, workforce, education, service planning and delivery. This work is generating insights about how to realise the promise of genomics in healthcare, highlighting the need for strong foundations, real-world application, accessibility and a focus on people using genomic information in clinical care.
View Article and Find Full Text PDFWellness in the Schools (WITS) is a national non-profit organization partnering with public schools to provide healthy, scratch cooked, less processed meals (called an Alternative Menu), and active recess. This study examined the effects of WITS programming on school lunch consumption, including fruit and vegetable intake, in second and third grade students in New York City public schools serving a high proportion of students from low-income households. The intervention was evaluated with a quasi-experimental, controlled design with 14 elementary schools (7 that had initiated WITS programming in fall 2015 and were designated as intervention schools, and 7 matched Control schools).
View Article and Find Full Text PDFThe purpose of this study is to develop a novel framework that outlines the system required to implement scratch cooking in school kitchens. The data used in this study were 57 interviews with key stakeholders during the Return to Scratch Cooking Pilot that occurred in two New York City school kitchens in 2018-2019 and made significant modifications to many aspects of the existing school food system. The guiding framework for the data analysis was Meadows's Intervention Level Framework.
View Article and Find Full Text PDFIntroduction: Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practice recommendations are presented in an abridged guidance to assist practitioners in enhancing the care of all patients with FH.
Main Recommendations: Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH.
Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH.
View Article and Find Full Text PDFFamilial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics.
View Article and Find Full Text PDFPresently in the U.S., few children meet the recommendation for daily consumption of fruits and vegetables (FV).
View Article and Find Full Text PDFObjective: Assess impact of school lunch environmental factors on fruit and vegetable (F&V) consumption in second and third grade students.
Design: Cross-sectional observations in 1 school year.
Participants: Students from 14 elementary schools in 4 New York City boroughs (n = 877 student-tray observations).
Background: Current treatments for alcohol use disorders have limited efficacy and there is a high degree of variability in treatment response. In a randomised, placebo-controlled clinical trial, there was a large effect size for topiramate in people homozygous for the GRIK1 rs2832407*C allele. The primary aim of the TOP study is to examine prospectively the therapeutic and cost-effectiveness of topiramate versus an active control (naltrexone) in improving treatment outcomes for alcohol dependence.
View Article and Find Full Text PDFBackground And Aims: Baclofen has been shown to reduce alcohol consumption in alcohol-dependent individuals, but there is marked heterogeneity in response. An association between GABBR1 rs29220 and alcohol dependence has been demonstrated previously. The present study evaluated whether the response to baclofen is moderated by a single nucleotide polymorphism (rs29220) in the GABAB receptor subunit 1 gene (GABBR1).
View Article and Find Full Text PDFObjectives: To compare the risk of fatal injury across helmet types among collision-involved motorcyclists.
Methods: We used data from a cohort of motorcyclists involved in police-reported traffic collisions. Eighty-four law enforcement agencies in California collected detailed information on helmet and rider characteristics during collision investigations in June 2012 through July 2013.
Hereditary porphyrias are caused by mutations in genes that encode haem biosynthetic enzymes with resultant buildup of cytotoxic metabolic porphyrin intermediates. A long-standing open question is why the same causal porphyria mutations exhibit widely variable penetrance and expressivity in different individuals. Here we show that severely affected porphyria patients harbour variant alleles in the ABCB6 gene, also known as Lan, which encodes an ATP-binding cassette (ABC) transporter.
View Article and Find Full Text PDFCancer is a disease of the genome with diverse aetiologies including the accumulation of acquired mutations throughout the genome. There has been a flood of knowledge improving our understanding of the biology and molecular genetics of melanoma, lung and colorectal cancer since the genomics era started. Translation of this knowledge into a better understanding of cell proliferation, survival and apoptosis has produced a paradigm shift in medical oncology enabling gene-based cancer treatment (called personalised or precision medicine).
View Article and Find Full Text PDFBackground: From early 2000 a new form of DNA genetic testing became available commercially. It bypasses the medical practitioner and can be ordered directly by the individual.
Objective: To understand direct-to-consumer (DTC) DNA genetic testing and be able to respond appropriately if asked to be involved by a patient.
Our aim was to assess the sensitivity and specificity of a next generation DNA sequencing (NGS) platform using a capture based DNA library preparation method. Data and experience gained from this diagnostic validation can be used to progress the applications of NGS in the wider molecular diagnostic setting. A technical cross-validation comparing the current molecular diagnostic gold standard methods of Sanger DNA sequencing and multiplex ligation-dependant probe amplification (MLPA) versus a customised capture based targeted re-sequencing method on a SOLiD 5500 sequencing platform was carried out using a cohort of 96 familial hypercholesterolaemia (FH) samples.
View Article and Find Full Text PDFTropomyosin, a coiled-coil protein that binds along the length of the actin filament, is a universal regulator of the actin cytoskeleton. We have taken a bioinformatics/proteomic approach to studying structure-function relationships in this protein. The presence of a single, essential tropomyosin gene, cdc8, in fission yeast, Schizosaccharomyces pombe, enables a systems-based approach to define the residues that are important for cellular functions.
View Article and Find Full Text PDFGene mutations that preferentially affect the CNS have been implicated in a number of neurological disorders. This leads to the possibility that a disease-causing mutation present only in CNS tissues could be missed if it were tested in a blood DNA sample only. The commonest mutation in amyotrophic lateral sclerosis (ALS) is an expansion of the hexanucleotide repeats of C9orf72.
View Article and Find Full Text PDFAim: We assessed the diagnostic accuracy of epidermal growth factor receptor (EGFR) mutant-specific antibodies for detecting two common activating EGFR mutations.
Methods: Immunohistochemical expression of mutation-specific antibodies against EGFR exon 19 deletion E746-A750 ((c.2235_2249del15 or c.