A Posthospitalization Home Visit Curriculum for Pediatric Patients.

Introduction: Home visits allow physicians to develop a deeper understanding of patients' homes and community, enhance physician-patient connectedness, and improve physician treatment plans for patients. We describe a unique pediatric posthospitalization home visit curriculum to train residents about the social determinants of health (SDH). Methods: Residents participated in an interactive presentation that discussed the logistics of making home visits and a background detailing SDH. During subsequent home visits, residents got to know the family and neighborhood on a deeper level. After each home visit, residents participated in a reflection session and considered the impact of SDH. Surveys were completed to capture data about residents' knowledge and attitudes regarding SDH and connectedness with the families. Families' perspectives were captured by phone surveys. Results: Of residents, 23 of 31 (74%) were able to make at least one home visit. After participating in the curriculum, residents reported increased confidence in understanding SDH (p = .048) and increased consideration of SDH when developing treatment plans (p = .007). All residents who made home visits predicted they would feel more confident in understanding how SDH impact patients they will care for in the future. Ninety percent of residents felt they made a stronger connection with the family. Eight families were surveyed, and all stated that the home visit had positive effects. Discussion: This curriculum teaches SDH while improving connections between physicians and patients.

Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy.

Metabolic strokes are a notable feature associated with acute catabolic crises in patients with propionic acidemia. Despite their importance, these events are not well characterized. Here, we present the clinical history of a patient with propionic acidemia who developed 5 episodes of acute hemiparesis between 3 and 11 years of age. The clinical finding of hemiparesis associated with 4 of these 5 events were shorted lived (2-5 days). Neuroimaging showed signal changes in the basal ganglia manifesting many years following the initial episode. Two of the episodes were accompanied by definite seizures. Based on these factors, the hemiparetic events were most consistent with metabolic strokes, though what is distinctive is that most of the events occurred without evidence of metabolic decompensation; brain magnetic resonance imaging findings were not suggestive in the acute setting. We present a framework for evaluating suspected metabolic stroke in propionic acidemia, in light of the sometimes perplexing clinical heterogeneity underlining these events.

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1. If identified early and treated appropriately, the majority of affected infants can remain asymptomatic. A clinical management scheme is needed for infants with HT-1 identified by NBS or clinical symptoms. To this end, a group of 11 clinical practitioners, including eight biochemical genetics physicians, two metabolic dietitian nutritionists, and a clinical psychologist, from the United States and Canada, with experience in providing care for patients with HT-1, initiated an evidence- and consensus-based process to establish uniform recommendations for identification and treatment of HT-1. Recommendations were developed from a literature review, practitioner management survey, and nominal group process involving two face-to-face meetings. There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet. Consensus recommendations for both immediate and long-term clinical follow-up of positive diagnoses via both newborn screening and clinical symptomatic presentation are provided.

Six-Year-Old With Altered Mental Status: No "LACk" of Clues.

A previously healthy 6-year-old child presented to our emergency department after a brief seizure associated with hypoglycemia. The differential diagnosis of hypoglycemia can often lead to excessive testing and initiation of unnecessary therapies. It is well-known that alcohol ingestion can lead to hypoglycemia and potentially seizure in children and should be considered in pediatric patients with altered mental status. However, this child's presenting ethanol level was normal. Nonetheless, there were multiple clues that this was the most likely the following diagnosis: hypoglycemia, mild metabolic ketoacidosis with no osmolar gap, and transient lactic acidemia. Ultimately, review of further history made this the most likely diagnosis. This case emphasizes that despite lacking the evidence of an elevated blood ethanol level at presentation, toxic ingestion of ethanol should still be suspected in cases of altered mental status and hypoglycemia.

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.

BACKGROUND: Failure-to-thrive (FTT) has been described in patients with organic acidemias treated with low protein diets. OBJECTIVE: To determine if patients with methylmalonic (MMA) or propionic acidemia (PA) can achieve normal growth and nutrition status. METHODS: A 6-month multicenter outpatient study was conducted with infants and toddlers treated with Propimex-1 Amino Acid-Modified Medical Food With Iron (Ross Products Division, Abbott Laboratories, Columbus, OH). Main outcome measures were anthropometrics, protein status indices, plasma retinol, and alpha-tocopherol. RESULTS: Sixteen patients completed the study. Mean baseline age was 0.54 +/- 0.02 years (range 0.03-3.00 years). By study end, mean National Center for Health Statistics (NCHS) weight centile increased from 26 to 49%; mean crown-heel length centile from 25 to 33%; and mean head circumference centile from 43 to 54%. Mean (+/- SE) protein and energy intakes by <6-month-old, 6<12-month-old, and 1<4-year-old patients were 15.3 +/- 0.9 g and 645 +/- 10 kcal; 18.3 +/- 1.1 g and 741 +/- 92 kcal; and 25.1 +/- 2.46 g and 1062 +/- 100 kcal, respectively. Plasma glycine concentrations were significantly and negatively correlated with energy intake (r=-0.77, p<0.0005). No correlation was found between dietary protein intakes and plasma ammonia concentrations. Protein status indices, retinol and alpha-tocopherol concentrations were within reference ranges at study end. CONCLUSIONS: Propimex-1 improved growth and nutrition status in patients with MMA or PA in just 6 months when fed in sufficient amounts. Providing energy and protein for patients with FTT at intakes recommended for catch-up growth may have resulted in even better growth.