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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
Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with trisomy X (45,X/47,XXX or 45,X/46,XX/47,XXX) (~3% of TS). We compared the diagnostic, perinatal, medical, and neurodevelopmental comorbidities of mosaic 45,X/47,XXX (n = 35, 9.4%) with nonmosaic 45,X (n = 142) and mosaic 45,X/46,XX (n = 66). Females with 45,X/47,XXX had fewer neonatal concerns and lower prevalence of several TS-related diagnoses compared with 45,X; however the prevalence of neurodevelopmental and psychiatric diagnoses were not different. Compared to females with 45,X/46,XX, the 45,X/47,XXX group was significantly more likely to have structural renal anomalies (18% vs. 3%; p = 0.03). They were twice as likely to have congenital heart disease (32% vs. 15%, p = 0.08) and less likely to experience spontaneous menarche (46% vs. 75% of those over age 10, p = 0.06), although not statistically significant. Congenital anomalies, hypertension, and hearing loss were primarily attributable to a higher proportion of 45,X cells, while preserved ovarian function was most associated with a higher proportion of 46,XX cells. In this large TS cohort, 45,X/47,XXX was more common than previously reported, individuals were phenotypically less affected than those with 45,X, but did have trends for several more TS-related diagnoses than individuals with 45,X/46,XX.
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"Smart"-scales are a new tool for frequent monitoring of weight change as well as weigh-in behavior. These scales give researchers the opportunity to discover patterns in the frequency that individuals weigh themselves over time, and how these patterns are associated with overall weight loss. Our motivating data come from an 18-month behavioral weight loss study of 55 adults classified as overweight or obese who were instructed to weigh themselves daily. Adherence to daily weigh-in routines produces a binary times series for each subject, indicating whether a participant weighed in on a given day. To characterize weigh-in by time-invariant patterns rather than overall adherence, we propose using hierarchical clustering with dynamic time warping (DTW). We perform an extensive simulation study to evaluate the performance of DTW compared to Euclidean and Jaccard distances to recover underlying patterns in adherence time series. In addition, we compare cluster performance using cluster validation indices (CVIs) under the single, average, complete, and Ward linkages and evaluate how internal and external CVIs compare for clustering binary time series. We apply conclusions from the simulation to cluster our real data and summarize observed weigh-in patterns. Our analysis finds that the adherence trajectory pattern is significantly associated with weight loss.
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Obesidade , Redução de Peso , Adulto , Humanos , Fatores de Tempo , Simulação por Computador , Análise por ConglomeradosAssuntos
Asma , Humanos , Asma/terapia , Asma/tratamento farmacológico , Adolescente , Feminino , Gerenciamento Clínico , Masculino , Antiasmáticos/uso terapêuticoRESUMO
OBJECTIVE: Surgical trainees who welcome a new child during residency often face challenges related to appropriate parental leave. To address this, we instituted a comprehensive family medical leave policy within our training program and assessed resident perceptions before and after the policy's introduction. We hypothesized that this new formal policy would enhance feelings of support amongst all (not just childbearing) trainees. DESIGN: A web-based survey to gauge resident perceptions on parental leave was distributed to all residents at a single academic general surgery residency at 2 intervals: prior to policy implementation and 1 year after policy implementation. SETTING: The study was conducted at a single institution, academic general surgery residency program. PARTICIPANTS: All general surgery residents at the institution were included (nâ¯=â¯95). RESULTS: About 40 out of 95 (42%) residents participated in the initial survey and 25 of 95 (26%) completed the subsequent survey. There was a significant improvement in resident reported satisfaction with the policy from pre to post: 15% pre to 68% post, p < 0.001, report the policy frequently supported trainees' needs, 20% pre to 88% post, p < 0.001, perceived the policy as fair. Most residents (90.0% pre and 80.0% post) perceived pregnancy as a risk during surgical training. There were no differences in perception of the new policy between residents who were parents and residents who were not parents. CONCLUSIONS: The introduction of a comprehensive family medical leave policy improved all surgical trainees' (including nonparents) perception of policy effectiveness and policy fairness. This is counter to the published perception that parental leave creates a burden on fellow trainees. However, pregnancy remains a stressor for the individual new parent. Surgical programs can develop supportive formal family medical leave policies; it is important to address the inherent systemic and cultural barriers surrounding childrearing during surgical training.
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Cirurgia Geral , Internato e Residência , Licença Parental , Humanos , Cirurgia Geral/educação , Feminino , Masculino , Adulto , Inquéritos e Questionários , Política Organizacional , Atitude do Pessoal de Saúde , Educação de Pós-Graduação em MedicinaRESUMO
INTRODUCTION: Traumatic pneumothorax (PTX) remains a source of significant morbidity and mortality in pediatric trauma patients. Management with tube thoracostomy is routinely dictated by symptoms, use of positive pressure ventilation, or plan for air transport. Many patients transferred to our pediatric trauma center (PTC) require transport at considerable elevation. We sought to characterize the effect of transport at elevation in this population to inform management recommendations. METHODS: The trauma registry was queried for pediatric patients transferred to our tertiary referral center with traumatic PTX from 2010 to 2022, yielding 412 charts for analysis. Data abstracted included mechanism of injury, mode of transport, size of pneumothorax, chest tube placement, endotracheal intubation, and estimated elevation change during transport. RESULTS: There were 412 patients included for analysis. Most patients had small pneumothoraces that resolved without chest tube placement (388 patients, 94.1%). No patients experienced acute respiratory decompensation in transport. There were four (0.9%) patients with increased PTX on arrival, however, none experienced acute decompensation as a result. Average elevation gain was 2337 feet. There was no association between elevation change and requirement of post-transport chest tube placement. No patients experienced PTX-related complications after discharge. CONCLUSIONS: In this large patient series, no patient experienced a meaningful increase in the size of their traumatic PTX during or immediately following transport at elevation to our institution. These findings suggest it is safe to transfer a pediatric trauma patient with a small, hemodynamically insignificant PTX without tube thoracostomy despite considerable changes in elevation during transport. LEVELS OF EVIDENCE: II-III, Retrospective Study.
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Pneumotórax , Traumatismos Torácicos , Humanos , Criança , Toracostomia/efeitos adversos , Pneumotórax/etiologia , Pneumotórax/cirurgia , Estudos Retrospectivos , Tubos Torácicos/efeitos adversos , Traumatismos Torácicos/complicaçõesRESUMO
Background: 1.8% of youth identify as transgender; a growing proportion are transgender male (female sex, male gender identity). Many receive gonadotropin releasing hormone agonist (GnRHa) therapy to suppress endogenous puberty and/or will start testosterone to induce secondary sex characteristics that align with gender identity. Objectives: To determine the effects of 12 months of testosterone on cardiometabolic health among transgender youth, including insulin sensitivity, body composition, and bone mineral density and whether changes in outcomes differ based on prior GnRHa treatment. Methods: Participants (n = 19, baseline age 15.0 ± 1.0 years) were examined prior to and 12 months after testosterone therapy in a longitudinal observational study. Fasted morning blood draw, a 2-hour 75-gram oral glucose tolerance test, body composition and bone mineral density (dual-energy X-ray absorptiometry) were assessed at baseline and 12 months. Insulin sensitivity was estimated by HOMA-IR and Matsuda index. Changes were compared with mixed linear regression models evaluating time (baseline, 12 months), group (GnRHa treatment yes/no), and their interaction. Results: In the entire cohort, fasted insulin decreased (median [25,75 %ile]: -3 [-5, 0] mIU/L, p = 0.044) and 2-hour glucose increased (mean ± standard deviation): +18.5 ± 28.9 mg/dL, p = 0.013 from baseline after 12 months of testosterone therapy. There were no significant changes in HOMA-IR (p = 0.062) or Matsuda index (p = 0.096), nor by GnRHa status. Absolute (+6.2 [4.7, 7.5] kg, p = 0.016) and percent fat-free mass increased (+7.3 [5.4, 9.1] %, p = 0.003) and percent fat mass declined (-7.4 [-9.3, 5.3]%, p = 0.005) for the entire cohort. There were time*group interactions for absolute (p = 0.0007) and percent fat-free mass (p = 0.033). There were time*group interactions for bone mineral content (p = 0.006). Conclusions: Twelve months of testosterone in transgender adolescents resulted in changes in body composition and bone mineral density, with baseline differences between the +/-GnRHa group and convergence after 12 months. There were no changes in insulin sensitivity over time or between groups.
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Images on the homepages of private practice dermatology websites often do not reflect the racial diversity of the metropolitan area in which each practice is located. A Google Maps scraper (Apify) was used to identify websites for private practices in 27 United States metropolitan areas selected from the 2020 U.S. Census list of 100 largest areas where non-white individuals makeup more than 50% of the population. Homepages from the top ten websites listed by the search engine were analyzed for images, use of non-English language, and mention of "Skin of Color" or "Ethnic Skin." One hundred seventeen websites were included. Two mentioned "Skin of Color" or "Ethnic Skin"; seven mentioned a non-English language. A significantly lower percentage of non-white-presenting patients (p < 0.001) and providers (p < 0.001) were pictured on the selected dermatology websites than reported in the Census. These findings suggest that the images on the homepages of private practice dermatology websites were not reflective of the racial diversity of the metropolitan area in which each practice is located. Private practice dermatologists should be mindful of how their services are represented online, as it may dissuade potential minoritized patients from seeking dermatologic care.
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Some transgender youth are treated with gonadotropin-releasing hormone agonists (GnRHa) followed by testosterone or estradiol, which may impact bone mineral density (BMD). This cross-sectional study of transgender youth (n = 56, aged 10.4-19.8 years, 53% assigned female at birth [AFAB]) utilized total body dual-energy x-ray absorptiometry to evaluate BMD Z-scores, and associations between GnRHa duration, body mass index (BMI), and BMD. Participants on GnRHa alone (n = 19, 14 assigned male at birth [AMAB], 5 AFAB) at the time of the study visit were 13.8 [12.8, 15.3] (median [IQR]) years old, had been on GnRHa for 10 [5.5, 19.5] months, and began GnRHa at age 12 [10.4, 12.6] years. Total body BMD Z-score for individuals on GnRHa monotherapy was -0.10 [-0.8, 0.4] (AFAB, female norms) and -0.65 [-1.4, 0.22] (AMAB, male norms). AFAB participants (n = 21) on testosterone were age 16.7 [15.9, 17.8] years, had been on testosterone for 11 [7.3, 14.5] months, and started testosterone at age 16 [14.8, 16.8] years; total body BMD Z-score -0.2 [-0.5, 0] (male norms) and 0.4 [-0.2, 0.7] (female norms). AMAB participants (n = 16) were age 16.2 [15.1, 17.4] years, had been on estradiol for 11 [5.6, 13.7] months, and started estradiol at age 16 [14.4, 16.7] years; total body BMD Z-score -0.4 [-1.1, 0.3] (male norms) and -0.2 [-0.7, 0.6] (female norms). BMD Z-score was negatively correlated with GnRHa duration (male norms: r = -0.5, P = .005; female norms: r = -0.4, P = .029) and positively correlated with BMI (male norms: r = 0.4, P = .003; female norms: r = 0.4, P = .004). In this cross-sectional cohort, total body BMD Z-scores were slightly below average, but lowest in the AMAB group on GnRHa monotherapy.
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BACKGROUND AND OBJECTIVE: Sex chromosome trisomies (SCT), including XXY, XYY, and XXX syndromes, have been historically underdiagnosed. Noninvasive prenatal cell-free DNA screening has significantly increased identification of these conditions, leading to a need for pediatric care for a growing population of newborns with SCT. Our goal was to analyze and compare perinatal features, medical diagnoses, and physical features in infants with prenatal identification of SCT conditions through the first year of life. METHODS: The eXtraordinarY Babies Study is an ongoing, prospective natural history study of prenatally identified children with SCT conducted by interdisciplinary teams in Colorado and Delaware. Participants were enrolled prior to 12 months of age and had pregnancy, birth, medical histories, and physical exams completed by board-certified pediatricians at 2, 6, and/or 12-month visits. Descriptive statistics were followed by comparisons between SCT groups using t-tests or ANOVA, Fisher exact, and correlations between medical features with alpha of 0.05. Relative risks were calculated compared to general population rates. RESULTS: 327 infants were included in the analysis (XXY=195, XXX=79, XYY=53). Major congenital anomalies were rare (1.7%). Relative risk compared to general population was elevated for breastfeeding difficulties (51.7%;RR 2.7), positional torticollis (28.2%;RR 7.2), eczema (48.0%;RR 3.5), food allergies (19.3%;RR 2.4), constipation requiring intervention (33.9%;RR 7.6), small cardiac septal defects (7.7%;RR 17.2), and structural renal abnormalities (4.4%;RR 9.7). Inpatient hospitalization was required for 12.4%, with 59.5% of hospitalizations attributable to respiratory infections. DISCUSSION: These findings of medical conditions with a higher prevalence can inform anticipatory guidance and medical management for pediatricians caring for infants with SCT. Article Summary: Medical findings in largest cohort of prenatally identified infants with XXY, Trisomy X, and XYY from birth to 12 months and implications for pediatric care.What's Known on This Subject: One in â¼500 individuals have an extra X or Y chromosome, or sex chromosome trisomy (SCT). Prenatal screening is now routinely identifying SCT, however there are few studies to guide perinatal and infant care for these individuals.What This Study Adds: This prospective observational study presents medical features for 327 infants with prenatally identified SCT from birth through the first year of life. Results identify where proactive screenings and/or interventions may be warranted for infants with SCT.
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OBJECTIVE: Our aim was to better understand attitudes towards parental leave from the perspective of both surgeon faculty and current surgical trainees. We hypothesized that support for trainees to take parental leave would vary by year of residency graduation and by parental status. DESIGN: We conducted a web-based survey regarding opinions on trainee parental leave. Quantitative and conventional content qualitative analyses were performed. PARTICIPANTS: Surveys were sent to surgeon faculty and current trainees from 5 large academic surgical residency programs. RESULTS: Survey response rates were 11.5% for surgeon faculty (68/589), and 17.7% for trainees (50/281). There were 80/118 (67.8%) respondents who reported they had or were currently expecting children, 40/80 (50%) of whom were the gestational carrier. Most thought that 6-12 weeks of parental leave should be given to child-bearing trainees (62/118, 52.5%); another 32.2% (38/118) thought >12 weeks should be given. Responses were similar amongst surgeon faculty and trainees, parents and nonparents, and respondents who identified as men and women. Qualitative analysis revealed that most respondents felt parental leave did not put unreasonable strain on other trainees and felt support could be shown both informally and with formal written policies facilitating patient care coverage. Current surgeon faculty were less likely to feel moderately/extremely supported by their faculty compared to trainees (39% vs 77%, pâ¯=â¯0.004). Less than a third (37/117, 31.6%) of respondents knew the current leave policies. CONCLUSIONS: Amongst survey respondents, there was broad support for parental leave for surgical trainees of at least 6 weeks amongst trainees and faculty, and those with and without children. Current trainees felt more supported than current surgical faculty, suggesting that parental leave is increasingly more accepted. Support can be shown both informally and through easily accessible written policies and procedures that facilitate patient care coverage.
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Atitude do Pessoal de Saúde , Docentes de Medicina , Cirurgia Geral , Internato e Residência , Licença Parental , Humanos , Feminino , Masculino , Docentes de Medicina/psicologia , Cirurgia Geral/educação , Adulto , Inquéritos e QuestionáriosRESUMO
PURPOSE: The aim of this study was to compare accidental dislodgement rates of nasal gastric tubes secured with standard methods or a nasal tube securement device in pediatric patients. DESIGN: A randomized controlled trial was conducted. METHODS: Participants ( n = 43) were randomized into standard securement or nasal tube securement device using block randomization to control for age and diagnosis. Surveys were collected from staff and caregivers on device ease of use and satisfaction. RESULTS: There were a similar number of tube dislodgements for patients in the nasal tube securement device group ( n = 6) and the standard practice group ( n = 7). The median hospital length of stay was higher for the standard practice group (13 days vs. 9 days). CONCLUSION: Use of the nasal tube securement device did not significantly decrease the rate of tube dislodgements compared with standard practice. CLINICAL RELEVANCE TO REHABILITATION NURSING: The study provides information for pediatric rehabilitation nurses in choosing securement options for nasal gastric tubes.
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Bandagens , Hospitais , Humanos , Criança , Falha de EquipamentoRESUMO
BACKGROUND: Medication adherence in adolescents remains a significant management challenge and innovative strategies are needed to improve medication adherence. Financial incentives have been used to improve outcomes for health behaviors among adults, but have not been well-studied among adolescents. The objective of this study was to test if a modest financial incentive improved medication adherence in adolescents with asthma compared with a control group. METHODS: Participants were randomized to either control (electronic medication monitoring [EMM] with App reminders/feedback for 4 months) or intervention (EMM + $1 per day for perfect medication adherence for 3 months [maximum $84] followed by 1 month of EMM only). A repeated measures mixed model, with a first order autoregressive correlation structure between errors, was used to test the null hypothesis for an interaction of treatment group and week. RESULTS: Fifty-two participants were enrolled, and 48 completed primary analysis. Mean adherence rates declined in both groups over time, and there was no significant difference in the change in adherence rates between the groups (F-statistic = 0.72, ndf = 15, ddf = 625, p = 0.76). Adherence rates (during the 12 weeks when incentives were given) declined from 80% to 64% in the control group, and from 90% to 58% in the incentive group. There was no significant change in the slope of decline in the incentives group in the month following payment discontinuation. CONCLUSION: A modest financial incentive did not lead to significantly different medication adherence rates in adolescents with asthma who were receiving a monitoring and reminder intervention. Further study is needed to determine viable interventions to optimize medication use in this group.
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Asma , Motivação , Adulto , Humanos , Adolescente , Comportamentos Relacionados com a Saúde , Adesão à Medicação , Asma/tratamento farmacológico , Projetos de PesquisaRESUMO
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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BACKGROUND: Patients with cerebral palsy and other static encephalopathies (CP) are known to be at increased risk of sleep-related breathing disorders (SRBD). Few studies have reviewed whether intrathecal baclofen (ITB) can contribute to SRBD. OBJECTIVE: To assess the prevalence of SRBD in patients with CP receiving ITB by using nocturnal polysomnography (NPSG). METHODS: We performed a retrospective chart review of patients receiving ITB who had NPSG at Children's Hospital Colorado (CHCO) and Seattle Children's Hospital (SCH) from 1995 to 2019. The Gross Motor Function Classification System (GMFCS) measured the severity of motor disability. Screening sleep questionnaires collected subjective data and NPSG provided objective data of SRBD. RESULTS: All patients except one were GMFCS 4 or 5 with median age at ITB pump placement of 9.7 years. The screening questionnaire for SRBD detected one or more nighttime symptoms inâ>â82% of all patient groups. Pre-ITB criteria for a SRBD was met in 83% of patients at CHCO and 91% at SCH. Post-ITB prevalence remained similarly high. CONCLUSIONS: NPSG identified a high prevalence of SRBD in these cohorts from CHCO and SCH. Our study showed neither improvement nor worsening of SRBD in patients receiving ITB.