Novel Mutation in the SLC5A1 Gene Causing Glucose-Galactose Malabsorption: First Confirmed Case From Central America.

Congenital glucose-galactose malabsorption is a rare cause of life-threatening diet-induced diarrhea in infants. Mutations in the SLC5A1 gene, which encodes for the sodium-dependent glucose transporter, result in large-volume diarrhea due to aberrant glucose and galactose transport across the intestinal brush border. The diagnosis can be made clinically based on the presence of diarrhea soon after birth, evidence of carbohydrate malabsorption in the stool, and resolution of diarrhea with dietary elimination of glucose and galactose. Genetic testing can confirm the diagnosis. Here we report the first confirmed case of glucose-galactose malabsorption in an infant from Central America due to a novel mutation in the SLC5A1 gene. The patient began growing and thriving after being diagnosed and with the correct dietary interventions.

A Rare Case of Cannabinoid Hyperemesis Syndrome Secondary to Cannabidiol for Refractory Epilepsy.

Cannabinoid hyperemesis syndrome (CHS) is associated with tetrahydrocannabinol, and rarely has been reported with cannabidiol. Cannabidiol is used in treatment-refractory epilepsy. This is a case of a pediatric patient with Lennox-Gastaut syndrome on cannabidiol, who was started on the ketogenic diet with significant seizure reduction. However, within 6 months he developed monthly bouts of severe emesis unresponsive to conventional anti-emetic therapy. Based on the stereotypical nature of his vomiting episodes, CHS was suspected. Cannabidiol was discontinued and within 2 months his emesis resolved. He has had no increase in seizure frequency or hospitalizations for emesis since cannabidiol was discontinued nearly 1 year ago. This is the first case of CHS secondary to cannabidiol for refractory epilepsy reported in the literature. We review the mechanism by which cannabidiol is believed to reduce seizures and be both anti- and pro-emetic, mainly through interactions with cannabinoid receptors and transient receptor channels.

Physician and Parent Perceptions on Plant-Based Beverages as Substitutes for Cow's Milk: A Single City Survey.

This study assessed physician and parent perceptions regarding plant-based beverage consumption in children. We surveyed 128 physicians and 215 parents of patients at University of Miami and Jackson Memorial Hospital. Among physicians, 52% recommended plant-based beverages, typically soy (33%), for cow's milk allergy (32%). Only 40% of physicians knew the typical protein content of plant-based beverages compared to cow's milk. Most physicians (54%) did not discuss potential health risks of plant-based beverages with patients. Among parents, 48% had children <2 years old, and 22% purchased a plant-based beverage, most commonly almond beverage (39%), due to perceived health benefits (54%). In total, 85% of parents believed that plant-based beverages are nutritionally superior or equivalent to cow's milk. Most parents (52%) depended on physicians for information on plant-based beverages. Overall, less than one third of physicians and parents believed that plant-based beverages should be called milk. There is a lack of knowledge among physicians and parents regarding plant-based beverage use as a dairy substitute in children. Despite parents relying on physicians for health information, physicians are not routinely counseling parents. Removing the label "milk" from plant-based beverages may improve consumer awareness of their nutritional differences and circumvent potential associated health risks in children.

Care of Pediatric Solid Organ Transplant Recipients: An Overview for Primary Care Providers.

As the number of living pediatric solid organ transplant (SOT) recipients continues to grow, there is an increased likelihood that primary care providers (PCPs) will encounter pediatric SOT recipients in their practices. In addition, as end-stage organ failure is replaced with chronic medical conditions in transplant recipients, there is a need for a comprehensive approach to their management. PCPs can significantly enhance the care of immunosuppressed hosts by advising parents of safety considerations and avoiding adverse drug interactions. Together with subspecialty providers, PCPs are responsible for ensuring that appropriate vaccinations are given and can play an important role in the diagnosis of infections. Through early recognition of rejection and posttransplant complications, PCPs can minimize morbidity. Growth and development can be optimized through frequent assessments and timely referrals. Adherence to immunosuppressive regimens can be greatly improved through reinforcement at every encounter, particularly among adolescents. PCPs can also improve long-term outcomes by easing the transition of pediatric SOT recipients to adult providers. Although guidelines exist for the primary care management of adult SOT recipients, comprehensive guidance is lacking for pediatric providers. In this evidence-based overview, we outline the main issues affecting pediatric SOT recipients and provide guidance for PCPs regarding their management from the first encounter after the transplant to the main challenges that arise in childhood and adolescence. Overall, PCPs can and should use their expertise and serve as an additional layer of support in conjunction with the transplant center for families that are caring for a pediatric SOT recipient.

Timely Delivery of Discharge Medications to Patients' Bedsides: A Patient-centered Quality Improvement Project.

INTRODUCTION: Patients who are unable to fill prescriptions after discharge are at risk of hospital readmission. Ensuring that patients have prescriptions in hand at the time of discharge is a critical component of a safe and effective discharge process. Using a "Meds to Beds" program, we aimed to increase the percentage of patients discharged from Holtz Children's Hospital with medications in hand from 49% to 80%, reduce turnaround time (TAT) from electronic prescription signature to bedside delivery from 4.9 hours (±2.6 hours) to 2 hours, and increase caregiver satisfaction. METHODS: We formed a multidisciplinary team and implemented 4 patient-centered interventions through iterative plan-do-study-act cycles. Statistical process control charts were used to understand the impact of the interventions over 10 months. Hospital length of stay and discharges before 2:00 pm were used as balancing measures. We measured caregiver satisfaction using a telephone survey administered by pediatric residents within 7 days after discharge. RESULTS: The mean percentage of patients discharged with medications in hand increased to 76%. TAT decreased to 3.5 hours (±1.8 hours). Length of stay did not significantly increase, whereas the percentage of patients discharged before 2:00 pm did. Caregivers of patients who had prescriptions delivered to their bedside reported high levels of satisfaction. CONCLUSIONS: Using a "Meds to Beds" program, we increased the percentage of patients discharged with medications in hand, decreased TAT with reduced variability, and achieved high levels of caregiver satisfaction. Importantly, there was a shift in the culture of the institution toward improved medication access for patients.