17 research outputs found
Recommended from our members
Trends in the utilisation of emergency departments in California, 2005-2015: a retrospective analysis.
ObjectiveTo examine current trends in the characteristics of patients visiting California emergency departments (EDs) in order to better direct the allocation of acute care resources.DesignA retrospective study.SettingWe analysed ED utilisation trends between 2005 and 2015 in California using non-public patient data from California's Office of Statewide Health Planning and Development.ParticipantsWe included all ED visits in California from 2005 to 2015.Primary and secondary outcome measuresWe analysed ED visits and visit rates by age, sex, race/ethnicity, payer and urban/rural trends. We further examined age, sex, race/ethnicity and urban/rural trends within each payer group for a more granular picture of the patient population. Additionally, we looked at the proportion of patients admitted from the ED and distribution of diagnoses.ResultsBetween 2005 and 2015, the annual number of ED visits increased from 10.2 to 14.2 million in California. ED visit rates increased by 27.8% (p<0.001), with the greatest increases among patients aged 5-19 (37.4%, p<0.001) and 45-64 years (41.1%, p<0.001), non-Hispanic Black and Hispanic patients (56.8% and 48.8%, p<0.001), the uninsured and Medicaid-insured (36.1%, p=0.002; 28.6%, p<0.001) and urban residents (28.3%, p<0.001). The proportion of ED visits resulting in hospitalisation decreased by 18.3%, with decreases across all payer groups.ConclusionsOur findings reveal an increasing demand for emergency care and may reflect current limitations in accessing care in other parts of the healthcare system. Policymakers may need to recognise the increasingly vital role that EDs are playing in the provision of care and consider ways to incorporate this changing reality into the delivery of health services
Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico
BackgroundIn cystic fibrosis (CF), the spectrum and frequency of CFTR variants differ by geography and race/ethnicity. CFTR variants in White patients are wellâ described compared with Latino patients. No studies of CFTR variants have been done in patients with CF in the Dominican Republic or Puerto Rico.MethodsCFTR was sequenced in 61 Dominican Republican patients and 21 Puerto Rican patients with CF and greater than â â â â 60â mmol/L sweat chloride. The spectrum of CFTR variants was identified and the proportion of patients with 0, 1, or 2 CFTR variants identified was determined. The functional effects of identified CFTR variants were investigated using clinical annotation databases and computational prediction tools.ResultsOur study found 10% of Dominican patients had two CFTR variants identified compared with 81% of Puerto Rican patients. No CFTR variants were identified in 69% of Dominican patients and 10% of Puerto Rican patients. In Dominican patients, there were 19 identified CFTR variants, accounting for 25 out of 122 disease alleles (20%). In Puerto Rican patients, there were 16 identified CFTR variants, accounting for 36 out of 42 disease alleles (86%) in Puerto Rican patients. Thirty CFTR variants were identified overall. The most frequent variants for Dominican patients were p.Phe508del and p.Ala559Thr and for Puerto Rican patients were p.Phe508del, p.Arg1066Cys, p.Arg334Trp, and p.I507del.ConclusionsIn this first description of the CFTR variants in patients with CF from the Dominican Republic and Puerto Rico, there was a low detection rate of two CFTR variants after full sequencing with the majority of patients from the Dominican Republic without identified variants.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/153634/1/ppul24549.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/153634/2/ppul24549_am.pd
Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma
RATIONALE: Albuterol, a bronchodilator medication, is the first-line therapy for asthma worldwide. There are significant racial/ethnic differences in albuterol drug response.
OBJECTIVES: To identify genetic variants important for bronchodilator drug response (BDR) in racially diverse children.
METHODS: We performed the first whole-genome sequencing pharmacogenetics study from 1,441 children with asthma from the tails of the BDR distribution to identify genetic association with BDR.
MEASUREMENTS AND MAIN RESULTS: We identified population-specific and shared genetic variants associated with BDR, including genome-wide significant (P \u3c 3.53 × 10
CONCLUSIONS: The lack of minority data, despite a collaboration of eight universities and 13 individual laboratories, highlights the urgent need for a dedicated national effort to prioritize diversity in research. Our study expands the understanding of pharmacogenetic analyses in racially/ethnically diverse populations and advances the foundation for precision medicine in at-risk and understudied minority populations
Whole-genome sequencing of pharmacogenetic drug response in racially diverse children with asthma
RATIONALE: Albuterol, a bronchodilator medication, is the first-line therapy for asthma worldwide. There are significant racial/ethnic differences in albuterol drug response.
OBJECTIVES: To identify genetic variants important for bronchodilator drug response (BDR) in racially diverse children.
METHODS: We performed the first whole-genome sequencing pharmacogenetics study from 1,441 children with asthma from the tails of the BDR distribution to identify genetic association with BDR.
MEASUREMENTS AND MAIN RESULTS: We identified population-specific and shared genetic variants associated with BDR, including genome-wide significant (P \u3c 3.53 × 10-7) and suggestive (P \u3c 7.06 × 10-6) loci near genes previously associated with lung capacity (DNAH5), immunity (NFKB1 and PLCB1), and β-adrenergic signaling (ADAMTS3 and COX18). Functional analyses of the BDR-associated SNP in NFKB1 revealed potential regulatory function in bronchial smooth muscle cells. The SNP is also an expression quantitative trait locus for a neighboring gene, SLC39A8. The lack of other asthma study populations with BDR and whole-genome sequencing data on minority children makes it impossible to perform replication of our rare variant associations. Minority underrepresentation also poses significant challenges to identify age-matched and population-matched cohorts of sufficient sample size for replication of our common variant findings.
CONCLUSIONS: The lack of minority data, despite a collaboration of eight universities and 13 individual laboratories, highlights the urgent need for a dedicated national effort to prioritize diversity in research. Our study expands the understanding of pharmacogenetic analyses in racially/ethnically diverse populations and advances the foundation for precision medicine in at-risk and understudied minority populations
Recommended from our members
Trends in the utilisation of emergency departments in California, 2005-2015: a retrospective analysis.
ObjectiveTo examine current trends in the characteristics of patients visiting California emergency departments (EDs) in order to better direct the allocation of acute care resources.DesignA retrospective study.SettingWe analysed ED utilisation trends between 2005 and 2015 in California using non-public patient data from California's Office of Statewide Health Planning and Development.ParticipantsWe included all ED visits in California from 2005 to 2015.Primary and secondary outcome measuresWe analysed ED visits and visit rates by age, sex, race/ethnicity, payer and urban/rural trends. We further examined age, sex, race/ethnicity and urban/rural trends within each payer group for a more granular picture of the patient population. Additionally, we looked at the proportion of patients admitted from the ED and distribution of diagnoses.ResultsBetween 2005 and 2015, the annual number of ED visits increased from 10.2 to 14.2 million in California. ED visit rates increased by 27.8% (p<0.001), with the greatest increases among patients aged 5-19 (37.4%, p<0.001) and 45-64 years (41.1%, p<0.001), non-Hispanic Black and Hispanic patients (56.8% and 48.8%, p<0.001), the uninsured and Medicaid-insured (36.1%, p=0.002; 28.6%, p<0.001) and urban residents (28.3%, p<0.001). The proportion of ED visits resulting in hospitalisation decreased by 18.3%, with decreases across all payer groups.ConclusionsOur findings reveal an increasing demand for emergency care and may reflect current limitations in accessing care in other parts of the healthcare system. Policymakers may need to recognise the increasingly vital role that EDs are playing in the provision of care and consider ways to incorporate this changing reality into the delivery of health services
The Body Mass Index of San Francisco Cold Water Swimmers - Comparisons to U.S. National and Local Populations, and Pool Swimmers
International Journal of Exercise Science 10(8): 1250-1262, 2017. To determine if cold-water swimmers have substantial differences in BMI, which might have a protective effect against heat loss during swims in cold water without wetsuits, and to determine if obesity is more or less prevalent in cold-water swimmers, we compared the body mass index (BMI) values of 103 recreational open-water swimmers (mean age 54.3 ±10.8 years) to data from various population groups. Swimmers swam consistently throughout the winter months, in the San Francisco Bay (water temperature range: 9.6° C [49.3 ° F] to 12.6° C [54.7 ° F]), without wetsuits. After matching for age and sex, the average BMI of cold-water swimmers (25.9 kg/m2) was lower than the corresponding predicted U.S. average BMI (29.2 kg/m2; p\u3c.001), the predicted California state average BMI (28.0 kg/m2; p\u3c.001), and the predicted San Francisco city average BMI (26.6 kg/m2; p=.047). The average BMI value for cold-water swimmers (25.9 kg/m2) was not significantly different from values of North American masters pool swimmers (25.1 kg/m2; p=.15) or international masters pool swimmers (25.3 kg/m2; p=.16). 10.7% of cold-water swimmers were classified as obese (BMI \u3e 30 kg/m2) vs. 35.7%, 25.8%, and 11.8% of the U.S., California, and San Francisco populations, respectively. The lower or similar BMI values of our swimmers suggest that successful recreational swimming in cold water is influenced by factors other than body habitus, such as acclimatization, heat production while swimming, and most importantly, limiting immersion time. The relatively low prevalence of obesity in our swimmers suggests that cold-water swimming could contribute to a healthy lifestyle