Melanie Napier
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View article: The broader socio-economic value of adult respiratory disease vaccinations in the UK – results from a benefit cost analysis
The broader socio-economic value of adult respiratory disease vaccinations in the UK – results from a benefit cost analysis Open
Adult respiratory vaccination delivers socio-economic benefits well beyond direct health-care savings, yet investment remains low. Considering broader impacts beyond standard cost-effectiveness can better align policy with public health an…
View article: A benefit-cost analysis quantifying the broader socioeconomic value of adult respiratory vaccination programs in Japan
A benefit-cost analysis quantifying the broader socioeconomic value of adult respiratory vaccination programs in Japan Open
Japan's adult respiratory vaccination programs generate substantial socioeconomic returns, strengthening public health, healthcare resilience, and workforce productivity. Increasing uptake across the population can generate significantly h…
View article: Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in <scp>BORCS5</scp>
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in <span>BORCS5</span> Open
Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consang…
View article: Investigation of Lead and Chromium Exposure After Consumption of Contaminated Cinnamon-Containing Applesauce — United States, November 2023–April 2024
Investigation of Lead and Chromium Exposure After Consumption of Contaminated Cinnamon-Containing Applesauce — United States, November 2023–April 2024 Open
Although lead poisoning can cause detrimental health effects, it is largely preventable. Common exposure sources include contaminated soil, water, and lead-based paint in homes built before the 1978 ban on residential lead-containing paint…
View article: P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients*
P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients* Open
View article: Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment Open
Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individual…
View article: Childhood Lead Exposure Linked to Apple Cinnamon Fruit Puree Pouches — North Carolina, June 2023–January 2024
Childhood Lead Exposure Linked to Apple Cinnamon Fruit Puree Pouches — North Carolina, June 2023–January 2024 Open
Lead exposure is toxic even at low levels, resulting in impairments that can affect a child's lifelong success. In North Carolina, testing for lead is encouraged for all children at ages 1 and 2 years and required for children covered by M…
View article: Exposure to Human-Associated Chemical Markers of Fecal Contamination and Self-Reported Illness among Swimmers at Recreational Beaches
Exposure to Human-Associated Chemical Markers of Fecal Contamination and Self-Reported Illness among Swimmers at Recreational Beaches Open
Anthropogenic chemicals have been proposed as potential markers of human fecal contamination in recreational water. However, to date, there are no published studies describing their relationships with illness risks. Using a cohort of swimm…
View article: Improved Decision Making for Water Lead Testing in U.S. Child Care Facilities Using Machine-Learned Bayesian Networks
Improved Decision Making for Water Lead Testing in U.S. Child Care Facilities Using Machine-Learned Bayesian Networks Open
Tap water lead testing programs in the U.S. need improved methods for identifying high-risk facilities to optimize limited resources. In this study, machine-learned Bayesian network (BN) models were used to predict building-wide water lead…
View article: NYC FITNESSGRAM: Population-Level Physical Fitness Surveillance for New York City Youth
NYC FITNESSGRAM: Population-Level Physical Fitness Surveillance for New York City Youth Open
NYC FITNESSGRAM, monitored by the New York City (NYC) Department of Education and the NYC Department of Health and Mental Hygiene, functions as the NYC Department of Education’s citywide youth fitness surveillance program. Here we present …
View article: Lead Levels in Tap Water at Licensed North Carolina Child Care Facilities, 2020–2021
Lead Levels in Tap Water at Licensed North Carolina Child Care Facilities, 2020–2021 Open
Objectives. To evaluate lead levels in tap water at licensed North Carolina child care facilities. Methods. Between July 2020 and October 2021, we enrolled 4005 facilities in a grant-funded, participatory science testing program. We identi…
View article: 672 Carbonic Anhydrase (CA-VA) deficiency: an under recognized cause of neonatal hyperammonemia with excellent outcome on proactive management
672 Carbonic Anhydrase (CA-VA) deficiency: an under recognized cause of neonatal hyperammonemia with excellent outcome on proactive management Open
Aims Background Neonatal Hyperammonemia is a medical emergency requiring prompt management. The combination of neonatal hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia is pathognomonic for carbonic anhydrase VA (CA-VA) deficie…
View article: Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: The cohorts for heart and aging research in genomic epidemiology
Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: The cohorts for heart and aging research in genomic epidemiology Open
Thiazide diuretics, commonly used antihypertensives, may cause QT interval (QT) prolongation, a risk factor for highly fatal and difficult to predict ventricular arrhythmias. We examined whether common single-nucleotide polymorphisms (SNPs…
View article: Context, importance, and process for creating a body mass index surveillance system to monitor childhood obesity within the New York City public school setting
Context, importance, and process for creating a body mass index surveillance system to monitor childhood obesity within the New York City public school setting Open
View article: The association between student body mass index and tests of flexibility assessed by the FITNESSGRAM®: New York City public school students, 2017–18
The association between student body mass index and tests of flexibility assessed by the FITNESSGRAM®: New York City public school students, 2017–18 Open
FITNESSGRAM® is the most widely used criterion-referenced tool to assess/report on student health-related fitness across the US. Potential weight-related biases with the two most common tests of musculoskeletal fitness–the trunk extension …
View article: The association between student body mass index and tests of flexibility assessed by the FITNESSGRAM®: New York City public school students, 2017–18
The association between student body mass index and tests of flexibility assessed by the FITNESSGRAM®: New York City public school students, 2017–18 Open
FITNESSGRAM® is the most widely used criterion-referenced tool to assess/report on student health-related fitness across the US. Potential weight-related biases with the two most common tests of musculoskeletal fitness–the trunk extension …
View article: The Effects of Changes in Physical Fitness on Academic Performance Among New York City Youth
The Effects of Changes in Physical Fitness on Academic Performance Among New York City Youth Open
To evaluate whether a change in fitness is associated with academic outcomes in New York City (NYC) middle school students using longitudinal data, and to evaluate whether this relationship is modified by student household poverty.
View article: Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism Open
Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-struc…
View article: A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium
A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium Open
BACKGROUND: Increased heart rate and a prolonged QT interval are important risk factors for cardiovascular morbidity and mortality, and can be influenced by the use of various medications, including tricyclic/tetracyclic antidepressants (T…
View article: Genome-wide Association Study of Susceptibility to Particulate Matter–Associated QT Prolongation
Genome-wide Association Study of Susceptibility to Particulate Matter–Associated QT Prolongation Open
BACKGROUND: Ambient particulate matter (PM) air pollution exposure has been associated with increases in QT interval duration (QT). However, innate susceptibility to PM-associated QT prolongation has not been characterized. OBJECTIVE: To c…
View article: Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions
Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions Open
Exposure to heavy metals and organic solvents are potential etiologic factors for multiple sclerosis (MS), but their interaction with MS-associated genes is under-studied. We explored the relationship between environmental exposure to lead…
View article: Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network Open
View article: Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA
Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA Open
Megalencephaly‐capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutati…
View article: Exposure to human-associated fecal indicators and self-reported illness among swimmers at recreational beaches: a cohort study
Exposure to human-associated fecal indicators and self-reported illness among swimmers at recreational beaches: a cohort study Open
Background Fecal indicator bacteria used to assess illness risks in recreational waters (e.g., Escherichia coli, Enterococci) cannot discriminate among pollution sources. To address this limitation, human-associated Bacteroides markers hav…
View article: Exposure to human source-associated fecal indicators and self-reported illness among swimmers
Exposure to human source-associated fecal indicators and self-reported illness among swimmers Open
Background: Current fecal indicator bacteria used to assess illness risks in recreational waters (E. coli, enterococci) cannot discriminate among sources of contamination. To address this limitation, human-associated Bacteroides and chemic…
View article: Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Open
View article: Genome-wide association study and meta-analysis identify loci associated with ventricular and supraventricular ectopy
Genome-wide association study and meta-analysis identify loci associated with ventricular and supraventricular ectopy Open
View article: Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: the cohorts for heart and aging research in genomic epidemiology
Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: the cohorts for heart and aging research in genomic epidemiology Open
Thiazide diuretics, commonly used antihypertensives, may cause QT interval (QT) prolongation, a risk factor for highly fatal and difficult to predict ventricular arrhythmias. We examined whether common single-nucleotide polymorphisms (SNPs…
View article: Exposure to human-associated fecal indicators and self-reported illness among swimmers at recreational beaches: a cohort study
Exposure to human-associated fecal indicators and self-reported illness among swimmers at recreational beaches: a cohort study Open
View article: Erratum: “Genome-wide Association Study of Susceptibility to Particulate Matter-Associated QT Prolongation”
Erratum: “Genome-wide Association Study of Susceptibility to Particulate Matter-Associated QT Prolongation” Open
Gondalia et al. have noted errors in their paper "Genome-wide Association Study of Susceptibility to Particulate Matter-Associated QT Prolongation" in Table 1 andFigure 3. Table 1 should not have included "mean ± SD" labels for columns Sex…