Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review.

BACKGROUND: Muscle biopsy facilitates morphologic, biochemical, and ultrastructural analysis of muscle for the purpose of making definitive neuromuscular diagnosis. However, muscle biopsy is an expensive, invasive, time-consuming, and resource-dependent procedure. The need for general anesthesia in children also increases the risks associated with this procedure. The aim of this study was to investigate the benefits of muscle biopsies performed over a 10-year period, with a focus on indications, suspected and histopathologic diagnosis, and impact on diagnosis and management decisions. METHODS: We retrospectively reviewed results of muscle biopsies performed in children at our center during the 2004 to 2014 study period. Clinical presentations, biopsy complications, pathologic results, and changes in management decision were reviewed and analyzed. RESULTS: Biopsies from 92 patients were included. Mean age of patients was 7.1years, and 66.3% were male. There were no perioperative complications, and definitive diagnosis was made in 74 patients. Regardless of whether pathologic changes were found or not, information gained from muscle biopsy significantly impacted prognosis and subsequent genetic counseling. CONCLUSIONS: Muscle biopsy is a safe and useful diagnostic tool in children suspected of having neuromuscular diseases, especially in those with muscle diseases. Definitive pathologic diagnosis helps to optimize treatment, counseling, and surveillance. THE TYPE OF STUDY AND LEVEL OF EVIDENCE: Study of diagnostic test: level 1.

Establishing Prenatal Surgery for Myelomeningocele in Asia: The Singapore Consensus.

OBJECTIVES: The Management of Myelomeningocele Study (MOMS Trial) has inspired many fetal therapy centers (FTCs) to offer open fetal surgery for myelomeningocele (MMC). This is an initial effort to create a candidate model that can be applicable to many parts of Asia. MATERIAL AND METHODS: A limited selection of specialists from 4 established FTCs in Thailand, Hong Kong, India, and Singapore met for a round table discussion. Experts from Children's Hospital of Philadelphia (CHOP) involved in the Trial moderated the session. The practice suggestions in this statement were from a targeted literature review and expert opinion. RESULTS: A high prevalence of MMC in Asia supports an effort to adopt the procedure, but only in established FTCs with good maternal and neonatal ancillary supports. The falling incidence of MMCs may affect case volume and maintenance of skill. A regional approach was recommended. Fetal benefits have to be weighed against maternal risks, with a consideration of recent outcome data from the endoscopic approach. Responsible FTCs need standardized diagnosis and management, with their long-term outcome data available for an audit. CONCLUSIONS: It is envisaged that the information presented by this multidisciplinary team would be useful for FTCs in Asia or elsewhere that plan to establish more advanced fetal care in the future.

Tracheobronchomalacia in pediatric patients with esophageal atresia: comparison of diagnostic laryngoscopy/bronchoscopy and dynamic airway multidetector computed tomography.

PURPOSE: Diagnostic laryngoscopy and bronchoscopy (DLB) has been the traditional preoperative diagnostic modality for evaluating presence and severity of tracheobronchomalacia (TBM), and requires anesthesia. Alternatively, multidetector computed tomography (MDCT) is potentially a noninvasive modality that provides high-resolution, 3-dimensional (3D) imaging of the thorax providing preoperative guidance for pediatric surgeons. This study compares MDCT with intraoperative DLB in the assessment of TBM in symptomatic pediatric patients with esophageal atresia (EA). METHODS: Following IRB approval all pediatric patients (≤18 years) who had EA and who underwent an MDCT study as a preoperative evaluation of TBM prior to aortopexy were retrospectively reviewed. Patients with incomplete reports on intraoperative DLB or MDCT studies were excluded. Two pediatric radiologists independently evaluated all MDCT studies in a blinded fashion. On both DLB and MDCT studies, TBM was scored as present or absent in five anatomic segments: upper, middle, and lower trachea, as well as right and left main stem bronchi. Operative reports including DLB findings were reviewed and compared to findings from MDCT study using the chance corrected kappa (κ) coefficient. Diagnostic accuracy of dynamic MDCT for detecting TBM was determined by sensitivity and specificity, and interobserver agreement between two radiology reviewers was measured by the kappa statistic. RESULTS: The final study population included 18 patients (8 males and 10 females) with ages ranging from 1month to 11years (median: 7 months). Their presenting clinical symptoms included apneic spells (n=15, 83%) and failure to extubate (n=3, 17%). The overall diagnostic accuracy of dynamic airway MDCT compared to DLB was 91% (82/90 possible segments for TBM) with excellent overall agreement across all 5 anatomic segments (κ=0.82, p<0.001). The agreements for upper, mid, lower trachea, and right and left trachea were 89% (κ=0.73, p<0.001), 94% (κ=0.85, p<0.001), 89% (κ=0.76, p<0.001), 94% (κ=0.82, p<0.001), and 89% (κ=0.61, p=0.005); respectively. Interobserver agreement between two radiologists was excellent (κ=0.98, 95% confidence interval: 0.94-1.00, p<0.001) with only 1 disagreement between two radiologists that was found for the left main bronchus. Fifteen (83.3%) of the patients clinically improved after the aortopexy. CONCLUSION: MDCT with 3D imaging is a highly accurate and reliable preoperative noninvasive imaging modality for evaluating TBM in pediatric patients with EA providing anatomic information consistent with and complimentary to bronchoscopy.

Comparison of a CO2 (Carbon Dioxide) Laser and Tissue Glue with Conventional Surgical Techniques in Circumcision.

INTRODUCTION: CO2 (Carbon Dioxide) laser application in circumcision, for cutting and coagulation, has been reported to have excellent results. Also, tissue glue has been reported to have advantages over sutures for approximation of wound edges. Most previous studies focused on comparisons between CO2 laser and scalpel, or between tissue glue and sutures. This study prospectively compared the results and complications CO2 laser and tissue glue, with standard surgical techniques in circumcision. METHODS: Thirty boys were prospectively divided into two groups. Group 1 (n = 17) underwent circumcision by scalpel with approximation of the wound edges using chromic catgut sutures. Group 2 (n = 13) underwent circumcision with CO2 laser and approximation of the wound edges using tissue glue. Patient age, indications for surgery, operative time, wound swelling, bleeding, wound infection, local irritation, pain score, and cosmetic appearance were recorded. RESULTS: Group 1 had a significantly longer operative time (P= 0.011), higher rate of local irritation (P= 0.016), and poorer cosmetic appearance (P< 0.001) than group 2. Bleeding only occurred in one patient in group 1. There were no significant differences in pain score, wound infection rate, or cost of surgery between the two groups. CONCLUSIONS: CO2 laser and tissue glue have advantages over standard surgical techniques in circumcision, with a significantly shorter operative time, lower rate of local irritation, and better cosmetic appearance. The cost of surgery is similar between the two groups.

Surgical approaches to aortopexy for severe tracheomalacia.

PURPOSE: The purpose of this study was to determine the outcomes among three different surgical approaches for performing an aortopexy to treat severe tracheomalacia (STM). METHODS: A retrospective review was performed for all patients who underwent an aortopexy by pediatric surgeons at a single institution during 1997-2012. Data collected included details of the operative approaches and clinical results. The data were analyzed using Chi-square and Fisher exact test. RESULTS: Forty-one patients underwent an aortopexy. The operation was chosen by the surgeon and not randomized. Exposure was by partial sternotomy (PS) (20), open thoracotomy (12), or thoracoscopic approach (7). Only the PS approach was done by a single team. All groups showed improvement in work of breathing, prevention of severe respiratory distress, and acute life threatening events. These effects were more dramatic for the PS group, especially regarding oxygen and/or ventilator dependence and the ability to undergo tracheostomy decannulation. Among the sixteen patients with failure-to-thrive before successful aortopexy by any technique, ten demonstrated significant improvement in their growth (p=0.025). The recurrence rate for the thoracoscopic approach was 38%, and there were no recurrences in the partial sternotomy and the thoracotomy groups, 38% vs 0% vs 0%, p=0.005. Simultaneous bronchoscopy was utilized more commonly in the PS group compared to the thoracotomy and thoracoscopic group, 95% vs 62% vs 38%. CONCLUSIONS: In this series, the partial sternotomy technique had the most reliable resolution of symptoms and no recurrence requiring reoperation. The PS approach to STM has the technical advantages of an improved exposure with equal access to the vessels over the right and left mainstem bronchi, as well as the trachea and a more specific elevation of the arteries, including suspension of the pulmonary arteries and trachea itself when desirable. Simultaneous bronchoscopy during aortopexy and an experienced team also likely contribute to improved outcomes. The variations in populations, follow-up, and use of continuous intraoperative bronchoscopy, however, make firm conclusions difficult.

Risk factors for recurrent gastroesophageal reflux disease after fundoplication in pediatric patients: a case-control study.

BACKGROUND/PURPOSE: Recurrent gastroesophageal reflux disease (rGERD) is a common problem after fundoplication. Previous studies attempting to identify risk factors for rGERD have failed to control for confounding variables. The purpose of this study was to identify significant risk factors for rGERD after controlling for potential confounding variables. METHODS: A retrospective, matched case-control study was conducted at a tertiary children's hospital. Cases (n = 116) met 1 of these criteria: reoperation for rGERD, symptomatic rGERD (confirmed by upper gastrointestinal series, esophagogastroduodenoscopy, or pH monitoring), or postoperative reinstitution of antireflux medication for more than 8 weeks. Controls (n = 209) were matched for surgeon, approach (laparoscopic/open), technique (partial/complete), and approximate operative date. Univariate and multivariable associations were analyzed by conditional logistic regression. RESULTS: Significant risk factors for rGERD were age of less than 6 years (odds ratio [OR], 3.6; 95% confidence interval [CI], 1.7-7.5), preoperative hiatal hernia (OR, 3.2; 95% CI, 1.4-7.3), postoperative retching (OR, 5.1; 95% CI, 2.6-10.0), and postoperative esophageal dilatation (OR, 10.8; 95% CI, 1.8-65.4). Interestingly, significant association was not found between neurologic impairment and rGERD after controlling for potential confounding variables. CONCLUSION: Age of less than 6 years, preoperative hiatal hernia, postoperative retching, and postoperative esophageal dilatation are independently associated with increased risk of rGERD. Neurologic impairment alone does not increase the risk of developing rGERD.