Opportunities for Pharmacogenetic Testing to Guide Dosing of Medications in Youths With Medicaid.

Importance: There are an increasing number of medications with a high level of evidence for pharmacogenetic-guided dosing (PGx drugs). Knowledge of the prevalence of dispensings of PGx drugs and their associated genes may allow hospitals and clinical laboratories to determine which pharmacogenetic tests to implement.

Objectives: To investigate the prevalence of outpatient dispensings of PGx drugs among Medicaid-insured youths, determine genes most frequently associated with PGx drug dispenses, and describe characteristics of youths who were dispensed at least 1 PGx drug.

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.

Background: Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems. SLOS is caused by bi-allelic mutations in , which lead to reduced activity of 7-dehydrocholesterol reductase that catalyzes the last step in cholesterol biosynthesis. Symptoms of SLOS are thought to be due to cholesterol deficiency and accumulation of its precursor 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC), and toxic oxysterols.

A coordinated approach for managing polypharmacy among children with medical complexity: rationale and design of the Pediatric Medication Therapy Management (pMTM) randomized controlled trial.

Background: Children with medical complexity (CMC) often rely upon the use of multiple medications to sustain quality of life and control substantial symptom burden. Pediatric polypharmacy (≥ 5 concurrent medications) is prevalent and increases the risk of medication-related problems (MRPs). Although MRPs are associated with pediatric morbidity and healthcare utilization, polypharmacy is infrequently assessed during routine clinical care for CMC.

Anticholinergic Medications and Parent-Reported Anticholinergic Symptoms in Neurologically Impaired Children.

Context: Children with severe neurological impairment and polypharmacy are exposed to anticholinergic (AC) medications that may have anticholinergic side effects, but this is understudied. Anticholinergic Cognitive Burden (ACB) scores measure total anticholinergic burden for a medication regimen, and scores ≥3 have been associated with increased morbidity and mortality in adults.

Objective: We assessed the relationship between ACB scores and parent-reported anticholinergic symptoms in children.

Making Polypharmacy Safer for Children with Medical Complexity.

A 14-year-old patient who has severe cerebral palsy and seizures, requested that his parents speak to his pediatrician about a medication to help with sleep. He already uses 13 other medications, including anticonvulsants, analgesics, and respiratory medications, and 5 additional as needed (PRN) medications (Figure 1). He has a vagal nerve stimulator and a gastrostomy tube.

Treatment-Refractory Dravet Syndrome: Considerations for Novel Medications.

Before 2018, there were no U.S. Food and Drug Administration-approved medications for managing seizures in Dravet syndrome (DS).

Identifying opportunities for pediatric medication therapy management in children with medical complexity.

Background: Despite potential benefits of medication therapy management (MTM) for complex pediatric patients, implementation of pediatric MTM services is rare.

Objectives: To describe how a standardized pediatric MTM model identifies potential interventions and their impact on medication regimen complexity index (MRCI) scores in children with medical complexity (CMC) and polypharmacy.

Methods: This retrospective proof-of-concept study included pediatric patients receiving primary care in a large outpatient primary care medical home for CMC within a tertiary freestanding children's hospital from August 2020 to July 2021.

Allowable room temperature excursions for refrigerated medications: A 20-year review.

Purpose: The aim of this review was to build upon previous literature describing the maximum duration for which refrigerated medications can tolerate room temperature excursions while maintaining stability and potency.

Methods: During a 12-month period ending in June 2021, the prescribing information and published monographs from multiple pharmacy compendia were reviewed for all medications and biologic products approved by the US Food and Drug Administration (FDA) for human use since January 2000. Products that were subsequently withdrawn from the US market were excluded.

Complexity of Medication Regimens for Children With Neurological Impairment.

Importance: Parents of children with severe neurological impairment (SNI) manage complex medication regimens (CMRs) at home, and clinicians can help support parents and simplify CMRs.

Objective: To measure the complexity and potentially modifiable aspects of CMRs using the Medication Regimen Complexity Index (MRCI) and to examine the association between MRCI scores and subsequent acute visits.

Design, Setting, And Participants: This cross-sectional study was conducted between April 1, 2019, and December 31, 2020, at a single-center, large, hospital-based, complex care clinic.

Necrotizing Enterocolitis in Neonates With Hyperinsulinemic Hypoglycemia Treated With Diazoxide.

The most common cause of persistent hypoglycemia in the neonatal period is hyperinsulinism. Severe, refractory hypoglycemia resulting from hyperinsulinism can lead to significant brain injury and permanent cognitive disability. Diazoxide is the first-line and only US Food and Drug Administration-approved, pharmacologic treatment for refractory hyperinsulinism.

Safety and effectiveness of albuterol solutions with and without benzalkonium chloride when administered by continuous nebulization.

Purpose: The results of a study to determine if rates of poor response differ in patients receiving continuous nebulized albuterol (CNA) therapy with or without the preservative benzalkonium chloride are presented.

Methods: A retrospective analysis of the records of all patients who received CNA therapy at a large academic medical center from July 2015 to January 2016 was conducted. Data from patient evaluations performed before and after a change to benzalkonium chloride-containing albuterol were collected.

Impact of Early Versus Late Diuretic Exposure on Metabolic Bone Disease and Growth in Premature Neonates.

Objectives: This study aimed to determine whether there are differences in the incidence of metabolic bone disease (MBD) between preterm neonates first exposed to diuretics prior to 2 weeks of life versus those exposed after 2 weeks.

Methods: This study was a retrospective analysis of premature neonates born at a tertiary care center between 2011 and 2015 who received either furosemide or chlorothiazide. The primary outcome was incidence of MBD.