Background:Idiopathic toe walking (ITW) is a diagnosis of exclusion and represents a spectrum of severity. Treatment for ITW includes observation and a variety of conservative treatment methods, with surgical intervention often reserved for severe cases. Previous studies reviewing treatment outcomes are often difficult to interpret secondary to a mixture of case severity. The goal of this study was to review surgical outcomes in patients with severe ITW who had failed prior conservative treatment, as well as determine differences in outcomes based on the type of surgery performed.Methods:After IRB approval, all patients with surgical management of severe ITW at a single institution were identified. Zone II or zone III plantar flexor lengthenings were performed in all subjects. Clinical, radiographic, and motion analysis data were collected preoperatively and at 1 year following surgery.Results:Twenty-six patients (46 extremities) with a diagnosis of severe ITW from 2002 to 2017 were included. Zone II lengthenings were performed in 25 extremities (mean age=9.9 y) and zone III lengthenings were performed in 21 extremities (mean age=8.6 y). At the most recent follow-up, 100% of zone III lengthening extremities and 88% of zone II lengthening demonstrated decreased severity of ITW. Six extremities required additional treatment, all of which were initially managed with zone II lengthenings.Conclusions:Severe ITW or ITW that has not responded to conservative treatment may benefit from surgical intervention. More successful outcomes, including continued resolution of toe walking, were observed in subjects treated with zone III lengthenings.Level of Evidence:Level III—case series.

sites (TFBS) are often accessible in the active genes and not uniformly distributed over the promoter region. Our data showed that ATAC peak distributions of the promoter regions (<1kb) and distal regions versus other regions were significantly different between ICM vs TE samples (P<0.01). We detected that higher percentage of accessible binding loci were located within 1kb of the transcription start site in ICM compared to TE (p<0.01). However, higher percentage of accessible regions were detected in the distal region of TE compared to ICM. In addition, 8 differential peaks with the FDR<0.05 between ICM and TE were detected and these 8 accessible locations were identified in ICM samples.CONCLUSIONS: This is the first study to compare the landscape of the accessible chromatin between ICM and TE of human preimplantation embryos, which unveiled chromatin-level epigenetic regulation of cell lineage specification in early embryo development.

DESIGN: ACOG recommends universal carrier screening for cystic fibrosis (CF) and spinal muscular atrophy (SMA) and ethnicity-based screening when appropriate. ACOG acknowledges that expanded carrier screening (ECS) has many benefits but states ECS panels should only include high impact disorders (well-understood, severe, and common.) 1,2 Our laboratory offers carrier screening for up to 301 genes. These genes are available in pre-curated panels (3, 46, or 288 genes), or they can be ordered as customized panels. Thirteen additional genes (common, variable, and/or adult onset) are available as an add-on to any panel. All combinations are offered at the same out-of-pocket cost.MATERIALS AND METHODS: Testing for up to 301 genes was performed by NGS. Ordering patterns by clinician type and positive rates were assessed.RESULTS: In a ten-month period, 16,459 patient samples from 1,390 clinicians were tested. Almost half of all orders came from REIs and 9% of orders identified the patient/partner as pregnant. The largest pre-curated panel was ordered most frequently (n¼6,699). Concurrent testing was performed for 62% of opposite-sex couple orders. Guideline-based testing accounted for 23% of all orders with ObGyns having the highest adherence to guideline-based ordering (31%) and genetic counselors (GCs) having the lowest (5%). MFMs were the only group that did not order all available genes (Table 1).Of all tests, 31% were positive for 1 disorder, 21% were positive for 2 or more, and 48% were negative. The most common autosomal recessive disorders at-risk couples screened positive for (add-on genes excluded) include CFTR-related disorders, GJB2-related non-syndromic hearing loss, HBBrelated hemoglobinopathies, Smith-Lemli-Optiz syndrome, SMA and phenylalanine hydroxylase deficiency (PKU).CONCLUSIONS: Despite current guidelines, our data shows that 56% of clinicians preferred a large panel (R288 genes), even including frequent/variable disorders and only 12% ordered the 46 gene panel with only high impact disorders. Additional investigation is needed to understand the decision tree within and between practices including the role insurance coverage and cost plays on carrier screening ordering.

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Introduction Regionalization efforts aim to improve healthcare by designating specialty centers for a geographic area. Regionalization may play a role in determining patient treatment plans and outcomes. We hypothesize that these factors may be influenced by race, socioeconomics, insurance, and longitudinal follow-up. Methods Retrospective review of 81 patients ages 0-18 years evaluated at our Level 2 Trauma Center between February 2016-December 2020 who met criteria for transfer to a Regional Burn Center. Results 67% of patients were transferred to the Regional Burn Center. There was no difference in the percentage of transferred patients with respect to age, race, ethnicity, insurance type, or rurality of home address. Secondary analysis showed that 57.4% of children were transferred without evaluation by social work. Five patients’ injuries were due to non-accidental trauma (NAT); two of these patients were transferred without social work evaluations. 28% of those transferred had documented involvement of Child Protective Services (CPS). Of the 31 transferred patients without social work evaluation, 67% had incomplete or missing notes from the burn center, including 100% of those subsequently confirmed to be due to NAT. Only 32% of patients received follow-up at our institution. Conclusion We identified no differences in transfer percentages with respect to race, ethnicity, or insurance type. Secondary analysis demonstrated a significant gap in care regarding access to records and social work involvement. As NAT and social concerns are common amongst children with burns, we propose policies to ensure that these concerns are not overlooked during regionalization efforts.