User-centered models for the development of digital health interventions are not consistently applied in healthcare settings. This study used a five-phase, user-centered approach to develop HEARTPrep, a psychosocial intervention delivered via mobile app and telehealth to mothers expecting a baby with congenital heart disease (CHD) to promote maternal, family, and child well-being. Phases of intervention development were: (I) establishing partnerships; (II) creating content; (III) developing prototype and testable intervention; (IV) conducting think-aloud testing; and (V) completing beta testing.
View Article and Find Full Text PDFPrenatal diagnosis of congenital heart disease (CHD) often leads to anxiety, depression, and traumatic stress in expectant mothers, with long-term implications for the child and family. However, psychosocial intervention is rarely incorporated into prenatal care. HEARTPrep is a virtually delivered psychosocial intervention aimed at reducing distress and social isolation and increasing parenting self-efficacy and hope for mothers expecting a baby with CHD to promote long-term child/family well-being.
View Article and Find Full Text PDFBackground: Congenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can inform prognosis and clinical management.
View Article and Find Full Text PDFPulmonary hypertension (PH) is common in premature infants with bronchopulmonary dysplasia (BPD) and is associated with significant mortality. Despite expert consensus suggesting the use of targeted therapies such as phosphodiesterase inhibitors, endothelin receptor antagonists, and prostanoids, there is little data on safety and outcomes in infants with BPD-associated PH (BPD-PH) treated with these medications. We sought to describe the pharmacologic management of BPD-PH and to report outcomes at our institution.
View Article and Find Full Text PDFBackground: Anomalous aortic origin of a coronary artery (AAOCA) is associated with sudden cardiac death. High-risk characteristics are most commonly assessed using a 2-dimensional (2D) echocardiogram (echo) or cardiac computed tomography (CT). We hypothesize that these characteristics will be more accurately assessed when they are presented in the form of a 3D digital model.
View Article and Find Full Text PDFThe genetic mechanisms underlying congenital heart disease (CHD) are complex and remain incompletely understood. The majority of patients with CHD have an isolated heart defect without other organ system involvement, but the genetic basis of isolated CHD has been even more difficult to elucidate compared to syndromic CHD. Our understanding of the genetics of isolated CHD is advancing in large part due to advances in next generation sequencing, and the list of genes associated with CHD is rapidly expanding.
View Article and Find Full Text PDFCongenital heart disease (CHD) is the most common major congenital anomaly with an incidence of ∼1% of live births and is a significant cause of birth defect-related mortality. The genetic mechanisms underlying the development of CHD are complex and remain incompletely understood. Known genetic causes include all classes of genetic variation including chromosomal aneuploidies, copy number variants, and rare and common single-nucleotide variants, which can be either de novo or inherited.
View Article and Find Full Text PDFObjective: To assess the demographics, treatment algorithm, and outcomes in a large cohort of children treated with sildenafil.
Study Design: A retrospective cohort study of children with pulmonary hypertension (PH) treated with sildenafil at a single institution between 2004 and 2015. Baseline and follow-up data collected by chart review.
Objectives: Anomalous aortic origin of a coronary artery (AAOCA) from the opposite sinus of Valsalva is a rare cardiac anomaly associated with sudden cardiac death (SCD). Single-center studies describe surgical repair as safe, although medium- and long-term effects on symptoms and risk of SCD remain unknown. We sought to describe outcomes of surgical repair of AAOCA.
View Article and Find Full Text PDFObjective: There has been hesitancy to use dextranomer/hyaluronic acid copolymer (DHXA, Deflux for vesicoureteral reflux (VUR) in the setting of lower urinary tract (LUT) dysfunction because of the limited number of published studies, the possibility of less success, and the manufacturer's recommendations contraindicating its use in patients with active LUT dysfunction. We report on our experience using DXHA in this subset of patients whose VUR persisted despite targeted therapy for their LUT condition.
Materials And Methods: We reviewed patients diagnosed with both a LUT condition and VUR who underwent subureteric DXHA while still undergoing treatment for their LUT dysfunction.
Background: Congenital abnormalities of the kidney and the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and the etiologic factors are poorly understood.
Methods: We performed genomewide linkage analysis and whole-exome sequencing in a family with an autosomal dominant form of congenital abnormalities of the kidney or urinary tract (seven affected family members).
Purpose: The main objective of this study was to investigate the prevalence of complementary and alternative medicine (CAM) use, types and reasons for use, and determinants of use among survivors of childhood cancer.
Methods: An interviewer-based survey of CAM use was administered to 197 survivors or their guardians. Demographic data, CAM therapies used, purpose and referral for use, and communication about use was collected.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes the degradation of low-density lipoprotein receptor (LDLRs) molecules expressed on the cell surface. Gene inactivation of PCSK9 reduces the areas of atherosclerotic lesions in mice, and the effect is mainly dependent on LDLRs. Furthermore, a positive relationship between PCSK9 and cholesterol accumulation in the wall of the aorta has been established.
View Article and Find Full Text PDFPurpose: There is a known association between nonneurogenic lower urinary tract conditions and vesicoureteral reflux. Whether reflux is secondary to the lower urinary tract condition or coincidental is controversial. We determined the rate of reflux resolution in patients with lower urinary tract dysfunction using targeted treatment for the underlying condition.
View Article and Find Full Text PDFPurpose: Varying incidences and levels of persistent retrograde venous flow have been reported following adult and adolescent varicocelectomy but the significance remains unclear. We sought to determine the incidence and natural history of persistent flow and whether it had any effect on postoperative testicular catch-up growth.
Materials And Methods: We retrospectively analyzed pre-varicocelectomy and post-varicocelectomy Doppler duplex ultrasound findings.
Objective: Varicoceles occur in 15% of adult and adolescent males and are generally considered to be an extratesticular phenomenon. However, an intratesticular component has been reported in up to 2% of adult and 2% of adolescent varicoceles. We sought to determine the incidence of intratesticular varicoceles (ITV) in adolescents in our practice, its significance, associated findings and response to treatment.
View Article and Find Full Text PDFWe examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)).
View Article and Find Full Text PDFPurpose: There is wide variation in the reported incidence of hydrocele after varicocelectomy (0% to 29%). We determined the incidence of hydroceles and hydrocelectomy following adolescent varicocelectomy, the time it took for them to manifest, and the results of aspiration and surgical correction.
Materials And Methods: Our adolescent varicocele registry was reviewed to identify patients with a post-varicocelectomy hydrocele.
Purpose: Appropriate management for adolescent varicocele with testicular symmetry is rarely discussed. We examined the natural history of varicocele in patients presenting with testicular symmetry to achieve better understanding of the clinical course.
Materials And Methods: Our varicocele registry was queried for adolescent boys who presented with varicocele in association with less than 15% testicular asymmetry and who underwent at least 1 testicular asymmetry assessment 12 or more months later.
To identify gene loci associated with steroid-resistant nephrotic syndrome (SRNS), we utilized homozygosity mapping and exome sequencing in a consanguineous pedigree with three affected siblings. High-density genotyping identified three segments of homozygosity spanning 33.6 Mb on chromosomes 5, 10, and 15 containing 296 candidate genes.
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