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1.
Pediatr Qual Saf ; 6(4): e424, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34179675

RESUMO

INTRODUCTION: Live video visits for ambulatory encounters offer potential benefits, including access to remote subspecialty services, care coordination between providers, and improved convenience for patients. We aimed to increase the utilization of video visits for pediatric patients at our medical center using an iterative quality improvement process. METHODS: A multispecialty improvement team identified opportunities to increase video visit utilization and prioritized interventions using benefit-effort analyses. Interventions focused on 6 key drivers. The outcome measure was the percentage of ambulatory encounters conducted by video. The process measure was the percentage of ambulatory pediatricians conducting video visits. The balancing measure was the percentage of no-shows among scheduled video visits. All measures were analyzed using statistical process control. RESULTS: Interventions were associated with increases in our outcome and process measures from 0.1% to 1.2% and 0.6% to 6.3%, respectively, during the first 8 months. Subsequently, the novel coronavirus (COVID-19) pandemic was associated with further increases in these measures to 41.8% and 73.5%, respectively, over 3 months. The balancing measure increased from 0% at baseline to 14.7% with no special cause variation during the intervention period. The most impactful interventions included clinician training outreach, providing equipment, and streamlining MyChart patient enrollment. CONCLUSIONS: This improvement project effectively increased pediatric ambulatory video visit utilization, although the most significant driver of utilization was the COVID-19 pandemic. Project interventions implemented before COVID-19 facilitated rapid video visit adoption during the pandemic. A similar improvement process may be beneficial for other medical centers aiming to improve video visit utilization.

2.
Clin Dysmorphol ; 26(4): 195-199, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28777121

RESUMO

Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain. Molecular testing in patient 1 revealed a missense variant of a highly conserved residue c.782 C>G (p.P261R). This variant has been reported once with fatal outcome. Patient 2 also had a missense variant in a highly conserved neighboring residue c.770 C>T (p.S257L). This variant has been previously reported, most recently associated with the development of pulmonary arterial hypertension. Both our patients had prenatal findings of polyhydramnios, short long bones, hydrops fetalis, and cardiac anomalies with progressive biventricular hypertrophic cardiomyopathy. Both patients had a lethal outcome. Our findings further support the pathogenicity and lethality of p.P261R, and the need to monitor for pulmonary arterial hypertension in p.S257L. In addition, the second patient was presented with progressive hydrocephalus due to aqueductal stenosis. This could be related to the NS phenotype. More cases with this association are needed to confirm this finding.


Assuntos
Cardiomiopatia Hipertrófica/genética , Ventrículos do Coração/patologia , Mutação/genética , Proteínas Proto-Oncogênicas c-raf/genética , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Fenótipo
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