Safety and efficacy of waterproof casting for early onset scoliosis.

PURPOSE: The efficacy of traditional Mehta casting in the treatment of early onset scoliosis (EOS) is well-established. However, waterproof casting has not been previously described. Inherent advantages of waterproof casting include clearance for bathing/swimming, avoiding cast holidays, and improved family satisfaction. The purpose of this study was to assess the safety and efficacy of waterproof serial casting at controlling curve progression in EOS. METHODS: The current study is an IRB-approved Level IV retrospective consecutive cohort of EOS patients who underwent a serial 75% body weight traction-elongation-flexion Mehta cast protocol with waterproof cast padding. The addition of 3-point apical translation with stockinettes was utilized during casting. Bracing was initiated after correction < 15° or 1 year of serial casting. RESULTS: Seventeen patients at mean age 21.6 months, with pre-cast Cobb angle 52.3° (R: 35°-82°), underwent serial waterproof casting. In-cast correction index was 64%; for post-cast, Cobb angle was 18.6°. At mean 5.6 years follow-up (R: 2.3-8.9 years), 82% successfully avoided surgical intervention, 53% maintained correction < 25°, and 29% are considered "cured". 3/17 (18%) underwent a 2nd round of casting, and a total of 3/17 (18%) ultimately required surgery at 6.2 years post-casting. No major cast-related complications, decubiti, or cast holidays were encountered. CONCLUSION: Serial waterproof casting is safe and efficacious in EOS when compared to published results of traditional Mehta casting. Of 17 patients with mean pre-cast Cobb 52.3°, 82% successfully avoided surgery and 53% maintained mild curves < 25° magnitude at 5.6 years follow-up. No major complications or skin decubiti occurred, and advantages include clearance for bathing and avoidance of need for cast holidays during treatment. LEVEL OF EVIDENCE: Level IV.

Glycogen storage disease type 1a in the Ohio Amish.

Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas. We conducted a retrospective observational study on a cohort of Amish patients with GSD1a. A total of 15 patients cared for at a single center, with a median age of 9.9 years (range 0.25-24 years) were included. All patients shared the same founder variant in GCPC c.1039 C > T. The phenotype of this cohort demonstrated good metabolic control with median cohort triglyceride level slightly above normal, no need for continuous overnight feeds, and a higher quality of life compared to a previous GSD cohort. The most frequent complications were oral aversion, gross motor delay, and renal hyperfiltration. We discuss our unique care delivery at a single center that cares for Amish patients with inherited disorders.

Bolus gastric feeds improve nutrition delivery to mechanically ventilated pediatric medical patients: Results of the COntinuous vs BOlus multicenter trial.

BACKGROUND: Comparison of bolus gastric feeding (BGF) vs continuous gastric feeding (CGF) with respect to timing and delivery of energy and protein in mechanically ventilated (MV) pediatric patients has not been investigated. We hypothesized that bolus delivery would shorten time to goal nutrition and increase the percentage of goal feeds delivered. METHODS: Multicenter, prospective, randomized comparative effectiveness trial conducted in seven pediatric intensive care units (PICUs). Eligibility criteria included patients aged 1 month to 12 years who were intubated within 24 h of PICU admission, with expected duration of ventilation at least 48 h, and who were eligible to begin enteral nutrition within 48 h. Exclusion criteria included patients with acute or chronic gastrointestinal pathology or acute surgery. RESULTS: We enrolled 158 MV children between October 2015 and April 2018; 147 patients were included in the analysis (BGF = 72, CGF = 75). Children in the BGF group were slightly older than those in the CGF; otherwise, the two groups had similar demographic characteristics. There was no difference in the percentage of patients in each group who achieved goal feeds. Time to goal feeds was shorter in the BGF group (hazard ratio 1.5 [CI 1.02-2.33]; P = 0.0387). Median percentage of target kilocalories (median kcal 0.78 vs 0.59; P ≤ 0.0001) and median percentage of protein delivered (median protein 0.77 vs 0.59; P ≤ 0.0001) was higher for BGF patients. There was no difference in serial oxygen saturation index between groups. CONCLUSION: Our study demonstrated shorter time to achieve goal nutrition via BGF compared with CGF in MV pediatric patients. This resulted in increased delivery of target energy and nutrition. Further study is needed in other PICU populations.

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

Cartilage-hair hypoplasia (CHH) is an autosomal recessive, short limb skeletal dysplasia with a variable immunologic phenotype. The spectrum of immune function ranges from clinically normal to severe combined immunodeficiency (SCID). Multiple studies have shown that abnormal immune parameters may not predict severe outcomes. Newborn screening (NBS) using T cell receptor excision circle (TREC) assay can now effectively identify infants with severe T cell deficiency who are at risk for SCID. NBS has allowed for cost-effective identification of patients with SCID and improved outcomes with hematopoietic stem cell transplant (HSCT). Ohio reports two abnormal TREC results: decreased and absent TREC. This study evaluated the laboratory and clinical differences in eight Amish patients with CHH with an abnormal TREC result on the NBS. There were four patients with absent TREC and four patients with decreased TREC. The absent TREC patients had lower CD3, CD4, naïve CD4, CD8 cells, and phytohemagglutinin (PHA)-induced lymphocyte proliferation. Three patients with absent TREC were diagnosed with SCID and two underwent successful HSCT. Patients with absent TREC experienced more CHH-related morbidity including anemia requiring transfusion, Hirschsprung's disease, and failure to thrive. No patients with decreased TREC required HSCT. Our study indicates that CHH patients with absent TREC tend to have more severe immunological and clinical phenotype than patients with decreased TREC. Confirmation of these trends in a larger group would guide providers and parents in a timely referral for HSCT, or cost-effective surveillance monitoring of children with a life-threatening illness.