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Turner syndrome (TS) is a genetic condition occurring in ~1 in 2000 females characterized by the complete or partial absence of the second sex chromosome. TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single-center, underpowered studies. Secondary data analyses utilizing electronic health record (EHR) have the potential to address these limitations; however, an algorithm to accurately identify TS cases in EHR data is needed. We developed a computable phenotype to identify patients with TS using PEDSnet, a pediatric research network. This computable phenotype was validated through chart review; true positives and negatives and false positives and negatives were used to assess accuracy at both primary and external validation sites. The optimal algorithm consisted of the following criteria: female sex, ≥1 outpatient encounter, and ≥3 encounters with a diagnosis code that maps to TS, yielding an average sensitivity of 0.97, specificity of 0.88, and C-statistic of 0.93 across all sites. The accuracy of any estradiol prescriptions yielded an average C-statistic of 0.91 across sites and 0.80 for transdermal and oral formulations separately. PEDSnet and computable phenotyping are powerful tools in providing large, diverse samples to pragmatically study rare pediatric conditions like TS.
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Registros Eletrônicos de Saúde , Síndrome de Turner , Humanos , Criança , Feminino , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Fenótipo , Algoritmos , EstradiolRESUMO
BACKGROUND: Neuropsychiatric systemic lupus erythematosus (NPSLE) is a poorly understood and heterogeneous manifestation of SLE. Common major NPSLE syndromes include strokes, seizures, myelitis, and aseptic meningitis. Easily obtainable biomarkers are needed to assist in early diagnosis and improve outcomes for NPSLE. A frequent end-result of major syndromes is neuronal or glial injury. Blood-based neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) have been utilized as markers for monitoring disease activity and/or severity in other neurodegenerative and neuroinflammatory diseases; however, they have not been evaluated in active major NPSLE. METHODS: This was a case-control study. We enrolled patients aged 12-60 years with active major NPSLE, SLE without active major NPSLE, and healthy controls. Active NPSLE was defined as being <6 months from last new or worsening neuropsychiatric symptom. Demographics, clinical data, and serum or plasma biosamples were collected. RESULTS: Thirteen patients with active major NPSLE, 13 age/sex/kidney function matched SLE controls without active major NPSLE, and 13 age/sex matched healthy controls (mean ages 26.8, 27.3, 26.6 years) were included. 92% of each group were female. Major syndromes included stroke (5), autonomic disorder (3), demyelinating disease (2), aseptic meningitis (2), sensorimotor polyneuropathy (2), cranial neuropathy (1), seizures (1), and myelopathy (2). Mean (standard deviation) blood NfL and GFAP were 3.6 pg/ml (2.0) and 50.4 pg/ml (15.0), respectively, for the healthy controls. Compared to healthy controls, SLE without active major NPSLE had mean blood NfL and GFAP levels 1.3 pg/ml (p = .42) and 1.2 pg/ml higher (p = .53), respectively. Blood NfL was on average 17.9 pg/ml higher (95% CI: 9.2, 34.5; p < .001) and blood GFAP was on average 3.2 pg/ml higher (95% CI: 1.9, 5.5; p < .001) for cases of active major NPSLE compared to SLE without active major NPSLE. In a subset of 6 patients sampled at multiple time points, blood NfL and GFAP decreased after immunotherapy. CONCLUSIONS: Blood NfL and GFAP levels are elevated in persons with SLE with active major NPSLE compared to disease matched controls and may lower after immunotherapy initiation. Larger and longitudinal studies are needed to ascertain their utility in a clinical setting.
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OBJECTIVE: Both high altitude and trisomy 21 (T21) status can negatively impact respiratory outcomes. The objective of this study was to examine the association between altitude and perinatal respiratory support in neonates with T21 compared with those without T21. STUDY DESIGN: This retrospective cohort study used the United States all-county natality files that included live, singleton, in-hospital births from 2015 to 2019. Descriptive statistics for neonates with and without the primary outcome of sustained assisted ventilation (>6 hours) were compared using t-tests and Chi-squared analyses. Multivariable logistic regression was used to determine the association between respiratory support and the presence of T21, and included an interaction term to determine whether the association between respiratory support and the presence of T21 was modified by elevation at delivery. RESULTS: A total of 17,939,006 neonates, 4,059 (0.02%) with T21 and 17,934,947 (99.98%) without, were included in the study. The odds of requiring sustained respiratory support following delivery were 5.95 (95% confidence interval [CI]: 5.31, 6.66), 4.06 (95% CI: 2.39, 6.89), 2.36 (95% CI: 1.64, 3.40), and 5.04 (95% CI: 1.54, 16.54) times as high for neonates with T21 than without T21 when born at low, medium, high, and very high elevations, respectively. The odds of requiring immediate ventilation support following delivery were 5.01 (95% CI: 4.59, 5.46), 5.90 (95% CI: 4.16, 8.36), 2.86 (95% CI: 2.15, 3.80), and 12.08 (95% CI: 6.78, 21.51) times as high for neonates with T21 than without T21 when born at low, medium, high, and very high elevation, respectively. CONCLUSION: Neonates with T21 have increased odds of requiring respiratory support following delivery when compared with neonates without T21 at all categories of altitude. However, the odds ratios did not increase monotonically with altitude which indicates additional research is critical in understanding the effects of altitude on neonates with T21. KEY POINTS: · Neonates with T21 have an increased need for perinatal respiratory support at all altitudes.. · The odds of needing perinatal respiratory support did not increase monotonically with elevation.. · Additional research is critical to understanding the effects of altitude on neonates with T21..
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Síndrome de Down , Recém-Nascido , Gravidez , Feminino , Humanos , Estados Unidos , Síndrome de Down/complicações , Altitude , Estudos Retrospectivos , Hospitais , Modelos LogísticosRESUMO
Background. Postpartum weight retention is a risk factor for obesity and is particularly important among Hispanic women who have an increased rate of obesity. Given its broad reach, the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) program provides an ideal setting to implement community-based interventions for low-income postpartum women. Purpose. To examine the feasibility, acceptability, and preliminary efficacy of a multicomponent intervention delivered by staff within the WIC program designed to promote behavior changes in urban, postpartum women with overweight/obesity. Method. This was a 12-week pilot trial randomizing participants to a health behavior change (Intervention) or control (Observation) group. The Intervention included monthly visits with trained WIC staff providing patient-centered behavior change counseling, with multiple touchpoints between visits promoting self-monitoring and offering health behavior change support. Results. Participants (n = 41), who were mainly Hispanic (n = 37, 90%) and Spanish-speaking (n = 33, 81%), were randomized to the Intervention (n = 19) or Observation (n = 22) group. In the Intervention group, 79% (n = 15) of eligible participants were retained for the study duration. All Intervention participants endorsed that they would participate again. Regarding physical activity, participant readiness to change and self-efficacy improved for Intervention participants. About one-quarter of women in the Intervention group (27%, n = 4) had a 5% weight loss compared with one woman (5%) in the Observation group; this difference was not statistically significant (p = .10). Conclusions. This pilot demonstrated the feasibility and acceptability of delivering a low-intensity behavior change intervention within the WIC setting for postpartum women with overweight/obesity. Findings support the role of WIC in addressing postpartum obesity.
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BACKGROUND: While large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, genome-wide linkage scans have been successful in identifying rare genetic variants for blood pressure. This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families from the Trans-Omics for Precision Medicine (TOPMed) program. Genetic association analyses weighted by linkage evidence were completed with whole genome sequencing data within and across TOPMed ancestral groups consisting of 60,388 individuals of European, African, East Asian, Hispanic, and Samoan ancestries. RESULTS: Associations of low frequency and rare variants in RCN3 and multiple other genes were observed for blood pressure traits in TOPMed samples. The association of low frequency and rare coding variants in RCN3 was further replicated in UK Biobank samples (N = 403,522), and reached genome-wide significance for diastolic blood pressure (p = 2.01 × 10- 7). CONCLUSIONS: Low frequency and rare variants in RCN3 contributes blood pressure variation. This study demonstrates that focusing association analyses in linkage regions greatly reduces multiple-testing burden and improves power to identify novel rare variants associated with blood pressure traits.
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Estudo de Associação Genômica Ampla , Medicina de Precisão , Pressão Sanguínea/genética , Ligação Genética , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único , Sequenciamento Completo do GenomaRESUMO
OBJECTIVE: To assess the odds of a psychiatric or neurodevelopmental diagnosis among youth with a diagnosis of gender dysphoria compared with matched controls in a large electronic health record dataset from 6 pediatric health systems, PEDSnet. We hypothesized that youth with gender dysphoria would have higher odds of having psychiatric and neurodevelopmental diagnoses than controls. STUDY DESIGN: All youth with a diagnosis of gender dysphoria (n = 4173 age at last visit 16.2 ± 3.4) and at least 1 outpatient encounter were extracted from the PEDSnet database and propensity-score matched on 8 variables to controls without gender dysphoria (n = 16 648, age at last visit 16.2 ± 4.8) using multivariable logistic regression. The odds of having psychiatric and neurodevelopmental diagnoses were examined using generalized estimating equations. RESULTS: Youth with gender dysphoria had higher odds of psychiatric (OR 4.0 [95% CI 3.8, 4.3] P < .0001) and neurodevelopmental diagnoses (1.9 [1.7, 2.0], P < .0001). Youth with gender dysphoria were more likely to have a diagnosis across all psychiatric disorder subcategories, with particularly high odds of mood disorder (7.3 [6.8, 7.9], P < .0001) and anxiety (5.5 [5.1, 5.9], P < .0001). Youth with gender dysphoria had a greater odds of autism spectrum disorder (2.6, [2.2, 3.0], P < .0001). CONCLUSIONS: Youth with gender dysphoria at large pediatric health systems have greater odds of psychiatric and several neurodevelopmental diagnoses compared with youth without gender dysphoria. Further studies are needed to evaluate changes in mental health over time with access to gender affirming care.
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Ansiedade/etiologia , Disforia de Gênero/complicações , Transtornos do Humor/etiologia , Transtornos do Neurodesenvolvimento/etiologia , Adolescente , Ansiedade/epidemiologia , Estudos de Casos e Controles , Criança , Feminino , Disforia de Gênero/psicologia , Humanos , Modelos Logísticos , Masculino , Transtornos do Humor/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Razão de Chances , Pontuação de Propensão , Fatores de Risco , Adulto JovemRESUMO
BACKGROUND & AIMS: Liver disease in children with Turner Syndrome (TS) is poorly understood relative to associated growth, cardiac and reproductive complications. This study sought to better characterize hepatic abnormalities in a large national cohort of youth with TS. METHODS: Using electronic health record data from PEDSnet institutions, 2145 females with TS were matched to 8580 females without TS on eight demographic variables. Outcomes included liver enzymes (AST and ALT) stratified as normal, 1-2 times above the upper limit of normal (ULN), 2-3 times ULN and >3 times ULN, as well as specific liver disease diagnoses. RESULTS: Fifty-eight percent of youth with TS had elevated liver enzymes. Patients with TS had higher odds of enzymes 1-2 times ULN (OR: 1.7, 95% CI: 1.4-1.9), 2-3 times ULN (OR: 2.7, 95% CI: 1.7-3.3) and >3 times ULN (OR: 1.7, 95% CI: 1.3-2.2). They also had higher odds of any liver diagnosis (OR: 2.4, 95% CI: 1.7-3.3), fatty liver disease (OR: 1.9, 95% CI: 1.1-3.2), hepatitis (OR: 3.7, 95% CI: 1.9-7.1), cirrhosis/fibrosis (OR: 5.8, 95% CI: 1.3-25.0) and liver tumour/malignancy (OR: 4.8, 95% CI: 1.4-17.0). In a multinomial model, age, BMI and presence of cardiovascular disease or diabetes significantly increased the odds of elevated liver enzymes in girls with TS. CONCLUSIONS: Youth with TS have higher odds for elevated liver enzymes and clinically significant liver disease compared with matched controls. These results emphasize the need for clinical screening and additional research into the aetiology and treatment of liver disease in TS. LAY SUMMARY: Turner Syndrome, a chromosomal condition in which females are missing the second sex chromosome, is often associated with short stature, infertility and cardiac complications. Liver abnormalities are less well described in the literature. In this study, nearly 60% of youth with TS have elevated liver enzymes. Furthermore, patients with TS had a diagnosis of liver disease more often than patients without TS. Our results support the importance of early and consistent liver function screening and of additional research to define mechanisms that disrupt liver function in paediatric TS females.
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Hepatopatias , Síndrome de Turner , Adolescente , Criança , Estudos de Coortes , Feminino , Humanos , Cirrose Hepática/complicações , Hepatopatias/complicações , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/genéticaRESUMO
OBJECTIVE: To evaluate the odds of a behavioral health diagnosis among youth with differences of sex development (DSD) or congenital adrenal hyperplasia (CAH) compared with matched controls in the PEDSnet database. STUDY DESIGN: All youth with a diagnosis of DSD (n = 1216) or CAH (n = 1647) and at least 1 outpatient encounter were extracted from the PEDSnet database and propensity-score matched on 8 variables (1:4) with controls (n = 4864 and 6588, respectively) using multivariable logistic regression. The likelihood of having behavioral health diagnoses was examined using generalized estimating equations. RESULTS: Youth with DSD had higher odds of a behavioral health diagnosis (OR, 1.7; 95% CI, 1.4-2.1; P < .0001) and neurodevelopmental diagnosis (OR, 1.7; 95% CI, 1.4, 2.0; P < .0001) compared with matched controls. Youth with CAH did not have an increased odds of a behavioral health diagnosis (OR, 1.0; 95% CI, 0.9, 1.1; P = .9) compared with matched controls but did have higher odds of developmental delay (OR, 1.8; 95% CI, 1.4, 2.4; P < .0001). CONCLUSIONS: Youth with DSD diagnosis have higher odds of a behavioral health or neurodevelopmental diagnosis compared with matched controls. Youth with CAH have higher odds of developmental delay, highlighting the need for screening in both groups.
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Hiperplasia Suprarrenal Congênita/psicologia , Transtornos do Desenvolvimento Sexual/psicologia , Transtornos Mentais/etiologia , Adolescente , Hiperplasia Suprarrenal Congênita/complicações , Estudos de Casos e Controles , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/epidemiologia , Transtornos do Comportamento Infantil/etiologia , Pré-Escolar , Bases de Dados Factuais , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/etiologia , Transtornos do Desenvolvimento Sexual/complicações , Registros Eletrônicos de Saúde , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/epidemiologia , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Razão de Chances , Pontuação de Propensão , Fatores de RiscoRESUMO
BACKGROUND: The performance of existing predictive models of readmissions, such as the LACE, LACE+, and Epic models, is not established in urban safety-net populations. We assessed previously validated predictive models of readmission performance in a socially complex, urban safety-net population, and if augmentation with additional variables such as the Area Deprivation Index, mental health diagnoses, and housing access improves prediction. Through the addition of new variables, we introduce the LACE-social determinants of health (SDH) model. METHODS: This retrospective cohort study included adult admissions from July 1, 2016, to June 30, 2018, at a single urban safety-net health system, assessing the performance of the LACE, LACE+, and Epic models in predicting 30-day, unplanned rehospitalization. The LACE-SDH development is presented through logistic regression. Predictive model performance was compared using C-statistics. RESULTS: A total of 16,540 patients met the inclusion criteria. Within the validation cohort (n=8314), the Epic model performed the best (C-statistic=0.71, P<0.05), compared with LACE-SDH (0.67), LACE (0.65), and LACE+ (0.61). The variables most associated with readmissions were (odds ratio, 95% confidence interval) against medical advice discharge (3.19, 2.28-4.45), mental health diagnosis (2.06, 1.72-2.47), and health care utilization (1.94, 1.47-2.55). CONCLUSIONS: The Epic model performed the best in our sample but requires the use of the Epic Electronic Health Record. The LACE-SDH performed significantly better than the LACE and LACE+ models when applied to a safety-net population, demonstrating the importance of accounting for socioeconomic stressors, mental health, and health care utilization in assessing readmission risk in urban safety-net patients.
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Readmissão do Paciente/tendências , Medição de Risco/normas , Provedores de Redes de Segurança/normas , Adulto , Idoso , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Readmissão do Paciente/estatística & dados numéricos , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Provedores de Redes de Segurança/métodos , Provedores de Redes de Segurança/estatística & dados numéricos , Serviços Urbanos de Saúde/organização & administração , Serviços Urbanos de Saúde/estatística & dados numéricosRESUMO
In this study, we investigated low-frequency and rare variants associated with blood pressure (BP) by focusing on a linkage region on chromosome 16p13. We used whole genome sequencing (WGS) data obtained through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program on 395 Cleveland Family Study (CFS) European Americans (CFS-EA). By analyzing functional coding variants and non-coding rare variants with CADD score > 10 residing within the chromosomal region in families with linkage evidence, we observed 25 genes with nominal statistical evidence (burden or SKAT p < 0.05). One of the genes is RBFOX1, an evolutionarily conserved RNA-binding protein that regulates tissue-specific alternative splicing that we previously reported to be associated with BP using exome array data in CFS. After follow-up analysis of the 25 genes in ten independent TOPMed studies with individuals of European, African, and East Asian ancestry, and Hispanics (N = 29,988), we identified variants in SLX4 (p = 2.19 × 10-4) to be significantly associated with BP traits when accounting for multiple testing. We also replicated the associations previously reported for RBFOX1 (p = 0.007). Follow-up analysis with GTEx eQTL data shows SLX4 variants are associated with gene expression in coronary artery, multiple brain tissues, and right atrial appendage of the heart. Our study demonstrates that linkage analysis of family data can provide an efficient approach for detecting rare variants associated with complex traits in WGS data.
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Pressão Sanguínea/genética , Cromossomos Humanos Par 16/genética , Exoma , Ligação Genética , Variação Genética , Genoma Humano , Sequenciamento de Nucleotídeos em Larga Escala , Processamento Alternativo/genética , Feminino , Seguimentos , Estudo de Associação Genômica Ampla , Humanos , Masculino , Fatores de Processamento de RNA/genética , Recombinases/genéticaRESUMO
OBJECTIVES: To assess among pregnant and recently delivered women the timing of thinking about and seeking information about childhood vaccines and the preferred modes of vaccine education. STUDY DESIGN: An e-mail survey among women in 9 urban and rural obstetrics practices in Colorado was conducted from February to April 2014, timed so that approximately one-half had delivered and one-half were still pregnant, designed to assess the frequency of thinking about and seeking information about vaccines in relation to estimated or actual delivery date. A shortened version of the Parental Attitudes About Childhood Vaccines scale was used to assess vaccine hesitancy. RESULTS: The response rate was 54% (230 of 425); 56% were pregnant, 44% had delivered, and 18% were vaccine-hesitant. Compared with pregnant women, women who had delivered more often reported thinking about vaccines for their infant (pregnant: 19% often, 42% sometimes; delivered: 29% often, 51% sometimes; P < .05) and looking for information about vaccines (pregnant: 6% often, 22% sometimes; delivered: 16% often, 34% sometimes; P < .01). Women most frequently reported seeking information about vaccines 2-4 weeks after delivery, followed by 4-6 weeks after delivery. The most preferred method for vaccine education was their child's doctor (95% acceptable; 92% likely to use) followed by their obstetrician (79% acceptable; 64% likely to use). CONCLUSIONS: Within 6 weeks postdelivery appears to be when the most women seek vaccine information. A child's doctor remains the most acceptable source of vaccine education.
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Comportamento de Busca de Informação , Pais/educação , Vacinação , Adulto , Colorado , Feminino , Humanos , Lactente , Recém-Nascido , Obstetrícia , Pediatras , Período Pós-Parto , Gravidez , Serviços de Saúde Rural , Inquéritos e Questionários , Fatores de Tempo , Serviços Urbanos de SaúdeRESUMO
Background: Timely detection and treatment of breast cancer is important in optimizing survival and minimizing recurrence. Given disparities in breast cancer outcomes based on socioeconomic status, we examined time to diagnosis and treatment in a safety-net hospital. Methods: We conducted a retrospective review of all patients with breast cancer diagnosed between July 1, 2010, and June 30, 2012 (N=120). We limited our analytic sample to patients with nonrecurrent, primary stage 0-III breast cancer (N=105) and determined intervals from presentation to diagnosis, diagnosis to first treatment, last surgery to chemotherapy initiation, and last surgery to start of radiation therapy (RT). Using logistic regression, we calculated unadjusted odds of receiving timely treatment (< median time) versus more delayed treatment (≥ median time) as a function of age, language, ethnicity, insurance, Charlson comorbidity index, disease stage, method of first presentation (screening mammography vs care provider), symptoms at presentation, and type of surgical treatment. Results: Patients aged 55 to 64 years accounted for most of the sample (n=37; 35.2%). Median time from presentation to diagnosis (23 days), time from diagnosis to first treatment, and time from surgery to chemotherapy initiation fell within intervals published in the literature; median time from last surgery to start of RT was greater than recommended intervals. Factors significantly associated with longer intervals than median time included stage, method of presentation, language, surgical treatment, insurance, and ethnicity. Conclusions: Patients in this safety-net setting experienced acceptable diagnosis and treatment intervals, except for time to RT. Focused interventions that help care providers access imaging quickly for their symptomatic patients could improve time to diagnosis. Concentrating additional efforts on non-English-speaking, Hispanic patients and those who need to receive RT could improve time to treatment.
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Neoplasias da Mama/diagnóstico , Diagnóstico Tardio/estatística & dados numéricos , Disparidades em Assistência à Saúde/estatística & dados numéricos , Provedores de Redes de Segurança/estatística & dados numéricos , Tempo para o Tratamento/estatística & dados numéricos , Negro ou Afro-Americano/estatística & dados numéricos , Idoso , Neoplasias da Mama/patologia , Neoplasias da Mama/terapia , Quimioterapia Adjuvante/economia , Quimioterapia Adjuvante/estatística & dados numéricos , Colorado , Feminino , Disparidades em Assistência à Saúde/economia , Hispânico ou Latino/estatística & dados numéricos , Humanos , Cobertura do Seguro/economia , Cobertura do Seguro/estatística & dados numéricos , Mastectomia/economia , Mastectomia/estatística & dados numéricos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Radioterapia Adjuvante/economia , Radioterapia Adjuvante/estatística & dados numéricos , Estudos Retrospectivos , Provedores de Redes de Segurança/economia , Fatores Socioeconômicos , Fatores de Tempo , População Branca/estatística & dados numéricosRESUMO
OBJECTIVES: People with childhood-onset disabilities are living into adulthood, and the prevalence of smoking and illicit drug use among adults with disabilities is high. We evaluated the relationship between disability status and age of disability onset, current cigarette smoking status, and heavy alcohol drinking. METHODS: We conducted a secondary data analysis of the National Health Interview Survey (NHIS), a US survey on illness and disability. Among 2020 NHIS participants aged 22-80 years (n = 28 225), we compared self-reported prevalence of current cigarette smoking and heavy alcohol drinking among those with and without disabilities and among those with childhood- versus adult-onset disabilities. We used adjusted logistic regression analysis to calculate the adjusted odds ratios (AORs) of current smoking and heavy alcohol drinking based on disability status and age of disability onset. RESULTS: Compared with adults without disabilities, adults with disabilities were significantly more likely to report current smoking (23.5% vs 11.2%; P < .001) and significantly less likely to report heavy alcohol drinking (5.3% vs 7.4%; P = .001). The prevalence of these behaviors did not vary significantly by age of disability onset. In adjusted logistic regression models, adults with disabilities had significantly higher odds of current smoking (AOR = 1.76; 95% CI, 1.53-2.03) and similar odds of heavy alcohol drinking (AOR = 0.82; 95% CI, 0.65-1.04) compared with adults without disabilities. The odds of these health behaviors did not vary significantly by age of disability onset. CONCLUSIONS: Adults with disabilities overall may be at high risk for these unhealthy behaviors, particularly smoking, regardless of age of disability onset. Routine screening and cessation counseling related to smoking and unhealthy alcohol use are important for all people with disabilities.
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BACKGROUND: Routine vaccination coverage for adolescents living in the rural US is lower than adolescents living in urban areas. We sought to measure the effect of Boot Camp Translation (BCT), a community-based participatory intervention, on rural adolescent vaccination coverage. METHODS: A cluster randomized controlled trial was performed September 2018-November 2021 involving 16 rural Colorado counties. Intervention county community members engaged in BCT to develop interventions to improve adolescent vaccination locally. Adolescent vaccination coverage was measured using the Colorado Immunization Information System. RESULTS: For 11-12-year-olds, HPV initiation, HPV up-to-date, MenACWY, and Tdap vaccination coverage was lower post- versus pre-intervention in the control and intervention groups. For 11-12-year-olds in the intervention group, there was no significant difference post- versus pre-intervention in the odds of HPV vaccine initiation (adjusted ratio of odds ratios [aROR] = 0.93, 95 %: 0.85-1.02, p = 0.10) or up-to-date HPV vaccination (aROR: 1.10, 95 % CI: 0.98-1.23, p = 0.11) compared with the control group. Among 11-12-year-olds, the decrease in the proportion vaccinated with MenACWY and Tdap in the intervention group was significantly greater than the control group. Among 13-17-year-olds, there were significant increases in HPV initiation, HPV up-to-date, MenACWY, and Tdap vaccination coverage from pre- to post-intervention for both groups, with no significant differences between groups. CONCLUSION: 11-12-year-old vaccination coverage decreased slightly from pre- to post-intervention while 13-17-year-old vaccination coverage increased. We saw no effect from the BCT intervention. Our findings about the effectiveness of BCT for improving vaccine uptake may not be generalizable because the study coincided with the COVID-19 pandemic. CLINICAL TRIAL REGISTRY: This study was registered with ClinicalTrials.gov, NCT03955757.
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Infecções por Papillomavirus , Vacinas contra Papillomavirus , Humanos , Adolescente , Criança , Infecções por Papillomavirus/prevenção & controle , Pandemias , Vacinação , Cobertura Vacinal , ColoradoRESUMO
CONTEXT: Small cohorts of youth with congenital adrenal hyperplasia (CAH) demonstrate increased risk of obesity and poor cardiometabolic health. OBJECTIVE: To determine the odds of cardiometabolic-related diagnoses in youth with CAH compared to matched controls in a cross-sectional analysis in a large, multisite database (PEDSnet). DESIGN: Electronic health record data (2009-2019) were used to determine odds of cardiometabolic-related outcomes based on diagnosis, anthropometric and laboratory data using logistic regression among youth with CAH vs. controls. SETTING: Six PEDSnet sites. PATIENTS OR OTHER PARTICIPANTS: Youth with CAH and >1 outpatient visit in PEDSnet (n=1,647) were propensity-score matched on 8 variables to controls (n=6,588). A subset of youth with classic CAH (n=547, with glucocorticoid and mineralocorticoid prescriptions) were matched to controls (n=2,188). INTERVENTION(S): N/A. MAIN OUTCOME MEASURE(S): Odds of having cardiometabolic-related diagnoses among youth over 2 years with CAH compared to matched controls. RESULTS: Outcomes were calculated for all individuals with CAH (median age at last visit 12.9 years [7.3, 17.6]) and a subset with classic CAH (median age at last visit 11.6 years [4.7, 17.5]) compared to their matched controls. All patients with CAH had higher odds of overweight/obesity (odds ratio [95% confidence interval] 3.63 [3.24,4.07]), hypertension (3.07 [2.60,3.64]), dysglycemia (1.95 [1.35,2.82], dyslipidemia (2.28 [1.79,2.91]) and liver dysfunction (2.30 [1.91,2.76]) compared to matched controls. Patients with classic CAH had higher odds of overweight/obesity (3.21 [2.61,3.93]), hypertension (8.22 [6.71,10.08]), and liver dysfunction (2.11 [1.55,2.89]) compared to matched controls. CONCLUSIONS: Overall, youth with CAH are at increased risk of diagnoses related to worse cardiometabolic health.
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Purpose: The purpose of this analysis is to: 1) describe the most common mental health diagnoses in the emergency department (ED) and inpatient hospital settings among transgender and gender diverse (TGD) youth vs. matched controls and 2) evaluate if a gender-affirming hormone therapy (GAHT) or gonadotropin-releasing hormone agonist (GnRHa) prescription decreased the risk of suicidality within these settings. Methods: Using the PEDSnet dataset (years 2009-2019), TGD youth aged 8-18 (n = 3414, with a median age at last visit of 16.2 [14.4, 17.7] years, were propensity-score matched to controls (n = 13,628, age 16.6 [14.2, 18.3] years). Relative risks of the most common mental health diagnoses within ED and inpatient settings were calculated for TGD youth compared with controls. Recurrent time-to-event analysis was used to examine whether GAHT or GnRHa attenuated the risk of suicidality among subsamples of TGD youth. Results: TGD youth had a higher relative risk (95% confidence interval [CI]) of mental health diagnoses and suicidality in the ED (5.46 [4.71-6.33]) and inpatient settings (6.61 [5.28-8.28]) than matched controls. TGD youth prescribed GAHT had a 43.6% lower risk of suicidality (hazard ratio [HR] = 0.564 [95% CI 0.36-0.89]) compared with those never prescribed GAHT during our study period or before GAHT initiation. TGD youth who were prescribed GnRHa therapy had a nonstatistically significant reduction in ED or inpatient suicidality diagnoses compared with those never prescribed GnRHa (HR = 0.79 [0.47-1.31]). Conclusion: Although risk of mental health diagnoses and suicidality in ED and inpatient settings was high among TGD youth, a GAHT prescription was associated with a significant reduction in suicidality risk.
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This case report describes the implementation approach and evaluation of a medical-dental integration (MDI) project in Colorado that embedded dental hygienists (DHs) into 10 medical practice settings. Through the MDI Learning Collaborative, DHs were integrated into primary care medical care practices to provide full-scope dental hygiene care to patients. Dental hygienists were trained to collect quality-improvement metrics on all encounters, including untreated tooth decay, and referred patients with restorative needs to partnering dentists. Cross-sectional, aggregated clinic-level oral health metrics were submitted monthly from 2019-2022. Descriptive statistics were used to describe the population receiving MDI care and interviews were conducted with MDI staff to describe their perspectives on this approach to comprehensive care. A logistic regression model, adjusted for time and practice, compared untreated dental caries in established vs new MDI patient-visits. From 2019-2021, integrated DHs completed 13,458 visits to low-income patients, Medicaid (70%, n=9,421), uninsured (24%, n=3,230), SCHIP (3%, n=404), private (3%, n=404), of various ages: 0-5 (29%, n=3,838), 6-18 (17%, n=2,266), 18-64 (51%, n=6,825), >65 (4%, n=529). A total of 912 visits were provided to pregnant patients. Services included caries risk assessment (n=9,329), fluoride varnish (n=6,722), dental sealants (n=1,391), silver diamine fluoride (n=382), x-rays (n=5,465) and scaling/root-planing (n=2,882). Improvement was found in untreated decay of established vs. new patient-visits in four of the practices. Dental hygienists integrated into medical teams provided full-scope dental hygiene care to patients and expanded access to dental services. Medical-dental integration (MDI) care was variably associated with reduction in untreated decay. Integrating dental hygienists into primary care medical practices has potential to improve oral health-related outcomes, however access to restorative dental care remains a challenge.
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Cárie Dentária , Humanos , Recém-Nascido , Lactente , Pré-Escolar , Colorado , Cárie Dentária/prevenção & controle , Higienistas Dentários , Estudos Transversais , Equipe de Assistência ao PacienteRESUMO
Turner syndrome (TS) is a genetic condition occurring in ~1 in 2,000 females characterized by the complete or partial absence of the second sex chromosome. TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single-center, underpowered studies. Secondary data analyses utilizing Electronic Health Record (EHR) have the potential to address these limitations, however, an algorithm to accurately identify TS cases in EHR data is needed. We developed a computable phenotype to identify patients with TS using PEDSnet, a pediatric research network. This computable phenotype was validated through chart review; true positives and negatives and false positives and negatives were used to assess accuracy at both primary and external validation sites. The optimal algorithm consisted of the following criteria: female sex, ≥1 outpatient encounter, and ≥3 encounters with a diagnosis code that maps to TS, yielding average sensitivity 0.97, specificity 0.88, and C-statistic 0.93 across all sites. The accuracy of any estradiol prescriptions yielded an average C-statistic of 0.91 across sites and 0.80 for transdermal and oral formulations separately. PEDSnet and computable phenotyping are powerful tools in providing large, diverse samples to pragmatically study rare pediatric conditions like TS.
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CONTEXT: Studies on cardiometabolic health in transgender and gender-diverse youth (TGDY) are limited to small cohorts. OBJECTIVE: This work aimed to determine the odds of cardiometabolic-related diagnoses in TGDY compared to matched controls in a cross-sectional analysis, using a large, multisite database (PEDSnet). METHODS: Electronic health record data (2009-2019) were used to determine odds of cardiometabolic-related outcomes based on diagnosis, anthropometric, and laboratory data using logistic regression among TGDY youth vs controls. The association of gender-affirming hormone therapy (GAHT) with these outcomes was examined separately among TGDY. TGDY (nâ =â 4172) were extracted from 6 PEDSnet sites and propensity-score matched on 8 variables to controls (nâ =â 16â 648). Main outcomes measures included odds of having cardiometabolic-related diagnoses among TGDY compared to matched controls, and among TGDY prescribed GAHT compared to those not prescribed GAHT. RESULTS: In adjusted analyses, TGDY had higher odds of overweight/obesity (1.2; 95% CI, 1.1-1.3) than controls. TGDY with a testosterone prescription alone or in combination with a gonadotropin-releasing hormone agonist (GnRHa) had higher odds of dyslipidemia (1.7; 95% CI, 1.3-2.3 and 3.7; 95% CI, 2.1-6.7, respectively) and liver dysfunction (1.5; 95% CI, 1.1-1.9 and 2.5; 95% CI, 1.4-4.3) than TGDY not prescribed GAHT. TGDY with a testosterone prescription alone had higher odds of overweight/obesity (1.8; 95% CI, 1.5-2.1) and hypertension (1.6 95% CI, 1.2-2.2) than those not prescribed testosterone. Estradiol and GnRHa alone were not associated with greater odds of cardiometabolic-related diagnoses. CONCLUSION: TGDY have increased odds of overweight/obesity compared to matched controls. Screening and tailored weight management, sensitive to the needs of TGDY, are needed.
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Hipertensão , Pessoas Transgênero , Adolescente , Estudos Transversais , Estradiol , Hormônio Liberador de Gonadotropina , Humanos , Obesidade , Sobrepeso , Testosterona/uso terapêutico , Congêneres da TestosteronaRESUMO
OBJECTIVE: To understand the influence of a novel infectious disease epidemic on parent general attitudes about childhood vaccines. METHODS: We conducted a natural experiment utilizing cross-sectional survey data from parents of infants in Washington and Colorado participating in a larger trial that began on September 27, 2019. At enrollment, parents completed the short version of the Parental Attitudes about Childhood Vaccines (PACV-SF), a validated survey scored from 0 to 4, with higher scores representing more negative attitudes. The exposure variable was onset of the SARS-CoV-2 pandemic in the United States, with the before-period defined as September 27, 2019 to February 28, 2020 and the after-period defined as April 1, 2020-December 10, 2020, with the after-period further separated into proximate (April 1, 2020-July 31, 2020) and distant periods (August 1, 2020-December 10, 2020). The outcome variable was parent negative attitudes about childhood vaccines, defined as a score of ≥2 on the PACV-SF. We estimated the probability of the outcome after (vs before) the exposure using log-binomial regression with generalized estimating equations adjusted for demographic confounding variables. RESULTS: Among 4562 parents, the risk of negative attitudes was lower immediately after (vs before) SARS-CoV-2 onset (adjusted risk ratio [aRR] = 0.58; 95% confidence interval [CI], 0.36, 0.94; P = .027), but by August-December 2020, the average rate of negative attitudes was 35% higher than during April-July 2020 (aRR: 1.35; 95% CI: 1.13, 1.61; P = .0009). CONCLUSIONS: A reduced risk of negative general vaccine attitudes observed immediately after SARS-CoV-2 onset was quickly attenuated.