A5072834542- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Prenatal Screening and Diagnostics
- LGBTQ Health, Identity, and Policy
- Asthma and respiratory diseases
- Global Health Workforce Issues
- Adolescent and Pediatric Healthcare
- Diversity and Career in Medicine
- Medication Adherence and Compliance
- Trauma and Emergency Care Studies
- Appendicitis Diagnosis and Management
- Hospital Admissions and Outcomes
- Tracheal and airway disorders
- Airway Management and Intubation Techniques
- Hernia repair and management
- Abdominal Surgery and Complications
- Cystic Fibrosis Research Advances
- Traumatic Brain Injury and Neurovascular Disturbances
- Urological Disorders and Treatments
- Healthcare Policy and Management
- Voice and Speech Disorders
- Multidisciplinary Science and Engineering Research
- Pleural and Pulmonary Diseases
- Trauma Management and Diagnosis
- Male Breast Health Studies
University of Colorado Denver
2023-2025
Children's Hospital Colorado
2023-2025
Center for Children
2024-2025
University of Colorado Anschutz Medical Campus
2021-2024
Color (United States)
2024
Colorado School of Public Health
2021-2024
The Medical Center of Aurora
2021
OBJECTIVE Pediatric traumatic brain injury (TBI) represents a significant public health concern and source of resource utilization. The aim this study was to establish the ability previously published pediatric Brain Injury Guidelines (pBIG) identify patients with intracranial hemorrhage (ICH) who might not require routine repeat neuroimaging, neurosurgical consultation, or hospital admission in large level I II trauma cohort. METHODS presented ICH between 2018 2022 at included institutions...
ABSTRACT Sex chromosome aneuploidies (SCAs) are chromosomal variations that result from an atypical number of X and/or Y chromosomes. Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47, XXY), Turner (45, and variants), Double XYY), Trisomy XXX), rarer tetrasomies pentasomies. Individuals experience a wide variety physical health, mental healthcare experiences differ the standard population. To understand priorities SCA community we surveyed...
Abstract 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 (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, mass index (BMI), BMD. Participants on alone 19, 14 male [AMAB], 5 AFAB) the time visit were 13.8...
1.8% of youth identify as transgender; a growing proportion are transgender male (female sex, gender identity). Many receive gonadotropin releasing hormone agonist (GnRHa) therapy to suppress endogenous puberty and/or will start testosterone induce secondary sex characteristics that align with identity. To determine the effects 12 months on cardiometabolic health among youth, including insulin sensitivity, body composition, and bone mineral density whether changes in outcomes differ based...
Abstract Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little known about the phenotype individuals with TS mosaic trisomy X (45,X/47,XXX 45,X/46,XX/47,XXX) (~3% TS). We compared diagnostic, perinatal, medical, and neurodevelopmental comorbidities 45,X/47,XXX ( n = 35, 9.4%) nonmosaic 45,X 142) 45,X/46,XX 66). Females had fewer neonatal concerns lower prevalence several TS‐related diagnoses 45,X; however psychiatric were not different. Compared to...
Abstract Background Medication adherence in adolescents remains a significant management challenge and innovative strategies are needed to improve medication adherence. Financial incentives have been used outcomes for health behaviors among adults, but not well‐studied adolescents. The objective of this study was test if modest financial incentive improved with asthma compared control group. Methods Participants were randomized either (electronic monitoring [EMM] App reminders/feedback 4...
Abstract Turner syndrome (TS) is a genetic condition occurring in ~1 2000 females characterized by the complete or partial absence of 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 potential address these limitations; however, an algorithm accurately identify cases EHR needed. We developed computable...
Sex chromosome aneuploidies (SCAs) are chromosomal variations that result from an atypical number of X and/or Y chromosomes. Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47,XXY), Turner (45,X and variants), Double (47,XYY), Trisomy (47,XXX), rarer tetrasomies pentasomies. Individuals experience a wide variety physical health, mental healthcare experiences differ the standard population. To understand priorities SCA community we surveyed...
Background and objectives: Sex chromosome trisomy (SCT) is a common chromosomal abnormality associated with increased risks for early developmental delays neurodevelopmental disorders later in childhood. Our objective was to quantify the spectrum of milestones SCT. We hypothesized milestone achievement SCT than general population. Methods: Data were collected as part eXtraordinarY Babies Study, prospective natural history health trajectories prenatally identified sample infants Parent...
Turner syndrome (TS) is a genetic condition occurring in ~1 2,000 females characterized by the complete or partial absence of 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 potential address these limitations, however, an algorithm accurately identify cases EHR needed. We developed computable phenotype...
Abstract “Smart”-scales are a new tool for frequent monitoring of weight change as well weigh-in behavior. These scales give researchers the opportunity to discover patterns in frequency that individuals weigh themselves over time, and how these associated with overall loss. Our motivating data come from an 18-month behavioral loss study 55 adults classified overweight or obese who were instructed daily. Adherence daily routines produces binary times series each subject, indicating whether...
Turner syndrome (TS) is a sex chromosome aneuploidy that occurs in approximately 1 2000 live female births and results from total or partial loss of the second chromosome. TS has been associated with variety medical neurodevelopmental conditions, including autism spectrum disorder (ASD). Although many individuals exhibit social communication difficulties, there are limited data on prevalence ASD within population, specific risk factors diagnosis ASD.
ABSTRACT 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 growing population newborns with SCT. Our goal was analyze compare perinatal features, medical diagnoses, physical features in infants SCT conditions through the first year life. METHODS The eXtraordinarY...
<title>Abstract</title> Purpose Hospital length of stay (LOS) following admission for appendicitis is difficult to predict. Shock index, pediatric age adjusted (SIPA) accurately identifies severely injured trauma patients and predicts mortality among children admitted the ICU. Our aim was determine if elevated SIPA at presentation, time normalization SIPA, can identify with perforated predict hospital LOS. Methods This a retrospective cohort study 1–17 years quaternary care referral center...
ABSTRACT Sex chromosome aneuploidies (SCAs) are a family of genetic disorders that result from an atypical number X and/or Y chromosomes. SCAs the most common chromosomal abnormality, affecting ∼1/400 live births, yet often underdiagnosed, leading to over-representation more severely impacted individuals in many clinical studies. In addition this ascertainment bias, existing work has also been limited by low geographic and demographic diversity. To address these limitations, we have created...
This study demonstrates differences in exercise capacity and mitochondrial respiration at baseline based on whether or not individuals had feminizing puberty blocked. Individuals who blocked greater improvements cardiopulmonary testing parameters after 12 mo of testosterone than those went through puberty.