Role of Nerve and Muscle Biopsies in Pediatric Patients in the Era of Genetic Testing.

BACKGROUND: An operative biopsy is an important component in the diagnosis and treatment of neuromuscular disorders (NMDs). However, recent advances in molecular genetics suggest less invasive genetic testing should be the initial approach. The purpose of our study was to demonstrate the diagnostic value of muscle or nerve biopsy within the pediatric population at a pediatric academic center and offer recommendations for genetic testing in relation to biopsy to achieve the highest diagnostic yield. METHODS: Following institutional review board approval, we retrospectively reviewed the electronic medical record of 221 pediatric patients who underwent muscle and/or nerve biopsy for suspicion of NMD from January 2007 to March 2018. Demographics, family history, clinical presentations, genetic testing results, pathology results, anesthesia complications, clinical diagnoses, and clinic follow-up data were collected. Chi-square analysis was done for statistical significance. RESULTS: A total of 220 underwent muscle biopsy, and 15 underwent nerve biopsy. Not all patients received genetic testing. The average age at biopsy was 7.7 y. Biopsy revealed significant histologic abnormalities in 62.9% (139), directly leading to a specific clinical diagnosis in 33.9% (75). When genetic testing was done before biopsy, definite pathogenic variants were found in 7.6% (9). When genetic testing was done after biopsy, definite pathogenic variants were found in 45.0% (27). Genetic testing yield for pathogenic variants was higher when done after biopsy (P value < 0.00001). CONCLUSIONS: Muscle and nerve biopsies may provide significant diagnostic value. Biopsy helped to rule in or out NMD and guide genetic testing. Our data suggest NMD genetic testing yield was higher when done after biopsy.

Parental satisfaction with same-day discharge after laparoscopic appendectomy for uncomplicated appendicitis.

OBJECTIVES: Recent studies suggest that same-day discharge is safe for the paediatric population after various laparoscopic procedures. Same-day discharge is increasingly common after laparoscopic surgery for uncomplicated appendicitis although it is not standard practice. This prospective study aims to assess parental satisfaction with same-day discharge after laparoscopic appendectomy for uncomplicated appendicitis. METHODS: At our institution, 849 patients with uncomplicated acute appendicitis underwent laparoscopic appendectomy in 2016; of which, 382 were discharged on the same calendar day. Postdischarge surveys assessing parental satisfaction were administered by telephone at the 2-week follow-up. RESULTS: Approximately 65% of 185 total parental responses reported initial satisfaction with same-day discharge. About 30% were nervous at that time, and 5% did not feel ready to go home yet. Upon reflection, a higher proportion of parents (81.6%) felt same-day discharge was the appropriate course of action, 11.4% were unsure, and 7.0% would not do it again. Some parents cited concerns regarding pain control and incongruous expectations from conversations with staff or surgical experiences of their own. CONCLUSIONS: The majority of parents recalled being happy at discharge, with an increase to 82% retrospectively. Only 7% of parents would not elect to go home on the same day again. Opportunities for improvement include a unified plan from all providers with expectations of same-day discharge if appendicitis is intraoperatively confirmed to be uncomplicated and better analgesic instructions at discharge.

Management of nonparasitic splenic cysts in children.

BACKGROUND: The management of nonparasitic splenic cysts in children is unclear. Options include observation, cystectomy, partial or total splenectomy and percutaneous aspiration with and without sclerotherapy. The aim of this study is to assess the outcomes of these interventions at a children's hospital. MATERIALS AND METHODS: A retrospective review of patients aged <18 y with splenic cysts over 7 y was performed. Demographics, mode of intervention, and outcome data were collected. RESULTS: Forty-two patients were identified and their initial management was as follows: 32 patients were observed and 10 underwent intervention (four aspiration and sclerotherapy and six resection). Age (y) was higher for intervention patients than observation patients (P = 0.004), as was the cyst size (P < 0.001). Incidental finding was the most common presentation in observation patients (n = 30; 94%) and abdominal pain for intervention groups: aspiration and sclerotherapy (n = 3; 75%) and resection (n = 5; 83%). Two patients failed observation and required aspiration and sclerotherapy due to persistence of symptoms or size increase. Median number of aspiration with and without sclerotherapy interventions was three (range 1-5). All six patients had persistence, with two requiring surgical resection due to symptomatic persistence. Surgical procedures included laparoscopic cystectomy (n = 3), laparoscopic partial (n = 2) or complete splenectomy (n = 1), and/or open splenectomy (n = 2). One laparoscopic cystectomy patient had persistence but the other two had no follow-up imaging. Partial and total splenectomy patients had no recurrence and/or persistence. CONCLUSIONS: Observation is an appropriate management strategy for small asymptomatic splenic cysts. Aspiration with and without sclerotherapy and laparoscopic cystectomy are associated with higher rates of recurrence; thus, partial splenectomy may provide the best balance of recurrence and spleen preservation.

Correlation of payor status and pediatric transfer for acute appendicitis.

BACKGROUND: Tertiary referral centers provide specialty and critical care for patients presenting to hospitals that lack these resources. There is a notion among tertiary centers that outside hospitals are more likely to transfer uninsured or underinsured patients. We examined funding status of patients transferred to our tertiary pediatric hospital for surgical management of appendicitis, hypothesizing that transferred patients were more likely to have unfavorable coverage. MATERIALS AND METHODS: The electronic medical record was queried for all cases of laparoscopic appendectomy at our hospital between 2011 and 2015. Insurance was grouped into three categories: commercial, Medicaid/Children's Health Insurance Plan, or none. Transferred patients were compared to patients who presented directly. RESULTS: A total of 5758 patients underwent laparoscopic appendectomy during the study period, of which 1683 (29.2%) were transfer patients. Transfer patients were more likely to be older, with a median age of 10.5 y versus 9.8 y in nontransferred patients (P ≤ 0.0001), and were more likely to be identified as non-Hispanic (50.0% versus 36.5%; P ≤ 0.0001). Insurance coverage was similar between groups. However, subgroup analysis of the hospitals that most frequently used our transfer services revealed a trend to transfer a higher proportion of Medicaid/Children's Health Insurance Plan patients. CONCLUSIONS: Overall, pediatric patients transferred for laparoscopic appendectomy had similar insurance coverage to patients admitted directly, but subgroup analysis shows that not all centers follow this trend. Transfer patients were more frequently older and non-Hispanic. This builds upon the existing literature regarding the correlation of funding and transfer practices and highlights the need for additional research in this area.

Preventing cognitive decline by reducing BP target (PCOT): A randomized, pragmatic, multi-health systems clinical trial.

BACKGROUND: Growing evidence suggests that intensive lowering of systolic blood pressure (BP) may prevent mild cognitive impairment (MCI) and dementia. However, current guidelines provide inconsistent recommendations regarding optimal BP targets, citing safety concerns of excessive BP lowering in the diverse population of older adults. We are conducting a pragmatic trial to determine if an implementation strategy to reduce systolic BP to <130 and diastolic BP to <80 mmHg will safely slow cognitive decline in older adults with hypertension when compared to patients receiving usual care. METHODS: The Preventing Cognitive Decline by Reducing BP Target Trial (PCOT) is an embedded randomized pragmatic clinical trial in 4000 patients from two diverse health-systems who are age ≥ 70 years with BP >130/80 mmHg. Participants are randomized to the intervention arm or usual care using a permuted block randomization within each health system. The intervention is a combination of team-based care with clinical decision support to lower home BP to <130/80 mmHg. The primary outcome is cognitive decline as determined by the change in the modified Telephone Interview for Cognitive Status (TICS-m) scores from baseline. As a secondary outcome, patients who decline ≥3 points on the TICS-m will complete additional cognitive assessments and this information will be reviewed by an expert panel to determine if they meet criteria for MCI or dementia. CONCLUSION: The PCOT trial will address the effectiveness and safety of hypertension treatment in two large health systems to lower BP targets to reduce risk of cognitive decline in real-world settings.

Single-incision laparoscopic surgery in children: a randomized control trial of acute appendicitis.

BACKGROUND: Single-incision laparoscopic surgery (SILS) is a novel area of minimally invasive surgery that uses a single incision to minimize all ports to one site. The end result is an incision that can be strategically placed in the umbilicus for a perceived scarless abdomen. The authors rationalized that a randomized controlled trial was important given the rapid popularization of this approach. METHODS: An institutional review board-approved prospective randomized trial compared patients undergoing SILS (SILS-A) and conventional laparoscopic (LAP-A) appendectomy at a free-standing children's hospital during a median follow-up period of 2.2 years. RESULTS: A total of 50 patients (50 % boys and 67 % Hispanics) were randomized equally to SILS-A and LAP-A. The patients ranged in age from 3 to 15 years without a difference between the two groups. Half (50 %) of these patients were younger than 8 years. The technique for SILS-A involved a single supraumbilical curvilinear skin incision with three fascial incisions. Ports were inserted to varying depths to minimize restriction of instrument movement. Coaxial visualization was improved by the use of a 30° scope. To achieve technical comparability with the LAP-A, a stapler device was used, which required upsizing a 5 mm port to a 12 mm port. The mean duration of the operation was 46.8 ± 3.7 min (range, 22-120 min) compared with 34.8 ± 2.5 min (range, 18-77 min) for standard LAP-A (p = 0.010). No conversions occurred, and the two groups did not differ in hospital length of stay. The postoperative complications consisted of one wound seroma in the SILS-A group (nonsignificant difference), and no hernias were seen. No difference in readmissions, diet tolerance, fever, or postoperative pain was noted between the two groups. CONCLUSIONS: The findings show the SILS approach to be feasible in the pediatric population despite the limited abdominal domain in younger children. Although SILS operating room times currently are longer than for LAP-A, they are comparable, and no other outcomes differed appreciably between the two techniques at the time of hospitalization or during the follow-up period.

The in-utero diagnosis of choledochal cyst: can postnatal imaging predict benefit from early surgical intervention?

BACKGROUND: Infants prenatally suspected of having a choledochal cyst (CDC) typically undergo ultrasound imaging shortly after birth. This study sought to evaluate features on the initial postnatal ultrasound (IPU) that could identify newborns at risk for early complications. METHODS: Following IRB approval, patients from four US fetal centers with prenatal suspicion for CDC and postnatal imaging from 2000 to 2017 were reviewed. Imaging and clinical courses were assessed. RESULTS: Forty-two patients had prenatal ultrasounds suspicious for CDC. Nineteen (45.2%) were excluded due to diagnostic revision (n = 9), cyst resolution (n = 5), lack of IPU measurements (n = 3), or lack of follow-up (n = 2). The 23 remaining patients were included in the study. Of these, five (21.7%) developed symptoms at a median age of 16.5 days (IQR 16-19 days), and 18 (78.3%) remained asymptomatic throughout the first year after birth. Five patients (21.7%) had cysts ≥ 4.5 cm on IPU (Symptomatic: n = 3; Asymptomatic: n = 2). Eighteen patients (78.3%) had cysts < 4.5 cm on IPU (Symptomatic: n = 2; Asymptomatic: n = 16). An IPU cyst size ≥ 4.5 cm was associated with neonatal symptom manifestation (p = 0.048), with 88.9% specificity (95% CI 65.3-98.6%) and 60% sensitivity (95% CI 14.7-94.7%). CONCLUSIONS: In newborns with prenatally diagnosed CDC, a cyst size ≥ 4.5 cm on IPU is associated with symptom development during the first month after birth and therefore early cyst excision is recommended.

Same-day discharge vs. observation after laparoscopic pediatric appendectomy: a prospective cohort study.

BACKGROUND: Through 2015, the practice at our university based free-standing children's hospital was to admit uncomplicated appendicitis patients for overnight observation post-operatively. Given the increasing body of evidence suggesting the safety and feasibility of same-day discharge after appendectomy for uncomplicated appendicitis, we elected to perform a prospective study evaluating the complication rates of same-day discharge compared to overnight observation at our institution, given our large volume of appendicitis. METHODS: Pediatric patients who underwent laparoscopic appendectomies for uncomplicated appendicitis in 2016 were analyzed. Data regarding demographics, admission, and discharge times and outcomes of complications, as well as readmissions, return to the emergency department, and nonscheduled clinic visits were collected and analyzing using chi-square and multivariate regression. Cost of stay data was obtained and analyzed using Mann-Whitney U test to compare non-parametric variables. RESULTS: Eight hundred and forty-nine laparoscopic appendectomies were performed for uncomplicated appendicitis during the study period, of which 382 resulted in same-day discharge and 467 in an admission for observation. Univariate analysis revealed no statistical difference between readmission rates for same day vs. observation (2 vs. 6 patients; P=0.21) or in emergency department visits within 30 days (22 vs. 27 patients; P=0.98). There was no difference in the number of surgical site infections or extra clinic visits. There was a significantly lower median cost of stay for patients discharged home the same day at 29,150 dollars (25,644, 32,276, IQR) compared to a median of 34,827 dollars (31,154, 39,457, IQR) (P<0.0001). CONCLUSIONS: Same-day discharge for laparoscopic uncomplicated appendectomy should be the new standard of care. This study found no differences in outcomes between the timing of discharge, with a significantly lower cost of stay for patients discharged home the same day.

Safety and feasibility of same-day discharge for uncomplicated appendicitis: A prospective cohort study.

BACKGROUND: Appendicitis is the most common gastrointestinal pediatric surgical emergency. With the introduction of laparoscopic techniques in the 1990s, recovery, pain, and hospital stay after laparoscopic procedures have been significantly reduced. While many laparoscopic procedures are performed as outpatient surgeries, pediatric appendectomy patients continue to be hospitalized for postoperative observation. Our goal was to evaluate the safety and feasibility of same day discharge after laparoscopic appendectomy for uncomplicated appendicitis. METHODS: After IRB approval, all pediatric patients undergoing laparoscopic appendectomy during 2016 for noncomplicated appendicitis were eligible for the study. Decision for same day discharge was based on surgeon preference and parental agreement. Data regarding demographics, admission and discharge times, outcomes of complications, readmissions, return to the ED, and nonscheduled clinic visits were collected. RESULTS: A total of 1321 appendectomies were performed during the study period, of which 849 were uncomplicated and 382 were discharged same day. There were 2 readmissions, 4 superficial surgical site infections, 10 patients with nausea or vomiting, and 33 patients with pain control issues, 9 of whom presented to the ED. CONCLUSIONS: Same day discharge for laparoscopic noncomplicated appendectomy is a safe and feasible alternative to postoperative admission and observation. This has the potential to yield significant healthcare cost savings. LEVEL OF EVIDENCE: Level II, Prospective Cohort Study.

Radiation exposure and safety practices during pediatric central line placement.

PURPOSE: Pediatric surgeons routinely use fluoroscopy for central venous line (CVL) placement. We examined radiation safety practices and patient/surgeon exposure during fluoroscopic CVL. METHODS: Fluoroscopic CVL procedures performed by 11 pediatric surgeons in 2012 were reviewed. Fluoroscopic time (FT), patient exposure (mGy), and procedural data were collected. Anthropomorphic phantom simulations were used to calculate scatter and dose (mSv). Surgeons were surveyed regarding safety practices. RESULTS: 386 procedures were reviewed. Median FT was 12.8 seconds. Median patient estimated effective dose was 0.13 mSv. Median annual FT per surgeon was 15.4 minutes. Simulations showed no significant difference (p=0.14) between reported exposures (median 3.5 mGy/minute) and the modeled regression exposures from the C-arm default mode (median 3.4 mGy/minute). Median calculated surgeon exposure was 1.5 mGy/year. Eight of 11 surgeons responded to the survey. Only three reported 100% lead protection and frequent dosimeter use. CONCLUSION: We found nonstandard radiation training, safety practices, and dose monitoring for the 11 surgeons. Based on simulations, the C-arm default setting was typically used instead of low dose. While most CVL procedures have low patient/surgeon doses, every effort should be used to minimize patient and occupational exposure, suggesting the need for formal hands-on training for nonradiologist providers using fluoroscopy.