RESUMEN
INTRODUCTION: Hypertension (HTN) is increasing in the pediatric population, and hypertensive children become hypertensive adults. Blood pressure (BP) is often overlooked due to factors including distrust in readings, lack of time in visits, and discomfort prescribing antihypertensive medications. The objective of our multistage, clinically based quality improvement project was to improve BP measurement and HTN diagnosis and intervention in adolescents. METHODS: Study investigators performed interventions in an adolescent medicine clinic at Children's Hospital Colorado (ages 12-24 years), which included equipment inventory, mapping clinic processes, manual/automated BP training for staff, education of faculty/staff on guidelines, and creation/implementation of updated best practice alerts (BPAs) based on age-appropriate guidelines for stage 1, 2 HTN in patients younger/older 18years. RESULTS: With equipment updates, medical assistant manual BP certifications, educational sessions for faculty/staff, and creation of a BPA with instruction before the go-live date, confidence in using automated and manual BP measurements increased for faculty/staff. The number of unique patient visits presenting with elevated BPs decreased significantly in the postintervention period reflecting the education/training. Staff used the new order set minimally, but there was an increase in correct diagnoses of elevated BP and laboratory workup. CONCLUSIONS: Having appropriate equipment while introducing BP guideline education in the ambulatory setting with electronic health record reminders and utility of BPAs can decrease erroneous BP values saving providers and staff encounter time. Real-time alerts can aid in accurate diagnosis rates and improved intervention for youth with elevated BP readings. Providers still inconsistently interact with order sets despite such parameters.
RESUMEN
Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic deficiency in 7-dehydrocholesterol (7-DHC) reductase (EC 1.3.1.21), the last enzyme of the cholesterol synthetic pathway. In SLOS, plasma cholesterol concentration is reduced and immediate precursor concentration (7-DHC) is elevated. Surprisingly, total sterol synthesis is reduced but HMG-CoA reductase activity, a rate-limiting enzyme in cholesterol synthesis is unaltered as judged by normal urinary excretion of mevalonic acid (MVA) (Pappu et al. J Lipid Res 43:1661-1669, 2002). These findings raise the possibility of increased diversion of MVA into the MVA shunt pathway away from sterol synthesis, by activation of the shunt pathway enzymes. To test this hypothesis, we measured the urinary excretion of 3-methylglutaconic acid (U-3MGC), a by-product of the shunt pathway, in 19 mildly to moderately severely affected SLOS subjects (ten males, nine females) receiving either a cholesterol-free or a high cholesterol diet, and in 20 age- and sex-matched controls. U-3MGC was similar in SLOS and controls, and was unaffected by dietary cholesterol intake. Further, no change in U-3MGC was observed in a subset of SLOS subjects (n = 9) receiving simvastatin. In contrast, U-MVA was reduced by cholesterol supplementation (~54%, p < 0.05) and by simvastatin (~50%, p < 0.04). There was no correlation between U-3MGC and either plasma sterol concentrations, urinary isoprenoids, or the subjects' clinical severity score. However U-3MGC was inversely correlated with age (p < 0.04) and body weight (p < 0.02), and higher in females than in males (~65%, p < 0.025). The data show that DHCR7 deficiency does not result in 3MGC accumulation in SLOS and suggest that the MVA shunt pathway is not activated in patients with the condition.