REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.

One of the most vital elements of management for patients with inborn errors of intermediary metabolism is the promotion of anabolism, the state in which the body builds new components, and avoidance of catabolism, the state in which the body breaks down its own stores for energy. Anabolism is maintained through the provision of a sufficient supply of substrates for energy, as well as critical building blocks of essential amino acids, essential fatty acids, and vitamins for synthetic function and growth. Patients with metabolic diseases are at risk for decompensation during prolonged fasting, which often occurs during illnesses in which enteral intake is compromised. During these times, intravenous nutrition must be supplied to fully meet the specific nutritional needs of the patient. We detail our approach to intravenous management for metabolic patients and its underlying rationale. This generally entails a combination of intravenous glucose and lipid as well as early introduction of protein and essential vitamins. We exemplify the utility of our approach in case studies, as well as scenarios and specific disorders which require a more careful administration of nutritional substrates or a modification of macronutrient ratios.

Quality and Safety Analysis of 2,999 Telemedicine Encounters During the COVID-19 Pandemic.

OBJECTIVE: To examine whether telemedicine remains safe and of high quality despite rapid expansion of services by comparing telemedicine encounters before and during the COVID-19 pandemic. METHODS: Pre-post study investigating 2,999 telemedicine encounters: February 1, 2020-May 15, 2020, was performed. A total of 2,919 completed visits before and after strict social distancing implementation were analyzed for patient and provider characteristics, encounter characteristics (e.g., history and physical examination), and quality and safety metrics (phone calls ≤ 7 days postvisit, visit-cause-specific hospital admission or mortality ≤ 30 days after visit). Stratified analysis of 3 groups for outcomes (young age, neuromuscular diagnosis, and new encounters) was performed. RESULTS: Patients ranging from 1 month to 33 years of age were seen. Rural patients were less likely to be seen during the pandemic compared with urban patients (8% vs 90%; p < 0.0001); teaching clinic and specialty clinic encounters increased significantly during the pandemic (8% vs 3%; p = 0.005), and documentation of at least 2 systems on examination was noted significantly more frequently during the pandemic (13% vs 7%; p = 0.009). No deaths were reported. There were no differences before/during the pandemic in safety or telemedicine failure metrics within the entire group and high-risk subgroups. CONCLUSIONS: Despite a markedly and rapidly expanded scope of ambulatory telemedicine care during the COVID-19 pandemic, telemedicine remained a safe and high-quality option for pediatric neurology patients. In addition, populations perceived as high risk for telemedicine (the very young, new patients, and those with neuromuscular diagnoses) can benefit from telemedicine visits, particularly when access to in-person care is limited.

Yield of laboratory testing in pediatric ketogenic diet patients: Critical assessment of abnormal results and impact on clinical care.

OBJECTIVES: To retrospectively assess the incidence of high beta hydroxybutyrate, low bicarbonate (BIC), high acyl carnitine, low selenium, low magnesium, low zinc, low phosphorus, in a cohort of supplemented patients treated with the ketogenic diet (KD) for medically intractable epilepsy. To analyze effect of age, duration of exposure to KD, type of KD, and route of KD intake on lab abnormalities. To analyze the incidence of clinically actionable results, resulting in medical interventions based on abnormal results and to analyze costs of testing. METHODS: Retrospective chart review and statistical analysis. Association between abnormal values (binary) and categorical variables was tested with Chi-square/Fisher's exact test. Associations between abnormal values (binary) and continuous variables were analyzed with logistic regression. Statistical analyses were performed in SAS 9.4. RESULTS: We included 91 patients with average duration on diet of 46.73 months (IQR 18.8-75.5 months). Most patients were on the classic KD (81 KD- 59% on 4:1 ratio, 10 modified Atkins diet). 74% were orally fed and 70% completed lab visits to the 12-month mark. There was no significant association between abnormal laboratory parameters and duration of exposure, type of diet, route of administration. Younger children were more likely to have low BIC, high acyl carnitine. Older children were more likely to have low phosphorus. Less than 15% of patients reported clinical changes to suggest dietary deficiency in vitamins/ minerals and in < 11% of cases was an actionable laboratory parameter found. SIGNIFICANCE: Our study is the first to document the real-life incidence of selected tests being abnormal when following consensus guidelines on lab testing. Elimination of tests with low yield will result in cost savings of up to $USD 185 per visit. Low phosphorus is frequently found in patients on KD.