Pediatric Penetrating Neck Trauma Resulting From a Metal Boat Cleat: A Case Report.

BACKGROUND: Clinical decision making for pediatric neck trauma is challenging because data and reports are sparse. We present a case report showing current recommendations for managing pediatric neck injuries. CASE PRESENTATION: This is the case of an 11-year-old boy who presented to our Level I trauma center after a slip and fall on a metal boat cleat (metal fixture used to secure rope). He suffered a penetrating injury to his neck, requiring operative exploration. This case report provides an overview on the rare incidence of pediatric penetrating neck trauma and treatment options. CONCLUSION: This case highlights penetrating neck injuries, which are uncommon in the pediatric population. This case report is unusual due to the method of injury and nature of the object. Neck trauma via a metal boat cleat is particularly rare. A comprehensive understanding of the anatomy of the neck, mechanism of injury, thorough clinical examination, and proper workup are essential to providing effective care.

Timing of Prenatal Magnetic Resonance Imaging in the Assessment of Congenital Diaphragmatic Hernia.

INTRODUCTION: Fetal magnetic resonance imaging (MRI) has been used to stratify severity of congenital diaphragmatic hernia (CDH) after ultrasound diagnosis. The purpose of this study was to determine if timing of MRI influenced prediction of severity of outcome in CDH. METHODS: A single institution retrospective review of all CDH referred to our institution from February 2004 to May 2017 was performed. Patients were included if they underwent at least 2 fetal MRIs prior to delivery. Prenatal MRI indices including observed-to-expected total fetal lung volume (o/e TFLV) were evaluated. Indices were categorized by trimester, either 2nd (20-27 weeks gestation) or 3rd trimester (>28 weeks gestation) and further analyzed for outcome predictability. Primary outcomes were survival, extracorporeal membrane oxygenation (ECMO), and pulmonary hypertension (PAH). Student t test and logistic and linear regression were used for data analyses. RESULTS: Of 256 fetuses evaluated for CDH, 197 were further characterized by MRI with 57 having both an MRI in the 2nd and 3rd trimesters. There was an average of 9.95 weeks (±4.3) between the 1st and 2nd MRI. Second trimester o/e TFLV was the only independent predictor of survival by logistic regression (OR 0.890, p < 0.01). Third trimester MRI derived lung volumes were associated with, and independent predictors of, severity of PAH and need for ECMO. Interval TFLV growth was a strong predictor of PAH postnatally (OR 0.361, p < 0.01). Overall cohort survival was 79%. CONCLUSION: Accuracy of MRI lung volumes to predict outcomes is dependent on the -gestational age at the time of exam. While MRI lung volumes at either the 2nd or 3rd trimester are predictive of morbidity, 2nd trimester lung volumes strongly correlated with mortality.

Prematurity blunts the feeding-induced stimulation of translation initiation signaling and protein synthesis in muscle of neonatal piglets.

Postnatal growth of lean mass is commonly blunted in preterm infants and may contribute to short- and long-term morbidities. To determine whether preterm birth alters the protein anabolic response to feeding, piglets were delivered at term or preterm, and fractional protein synthesis rates (Ks) were measured at 3 days of age while fasted or after an enteral meal. Activation of signaling pathways that regulate protein synthesis and degradation were determined. Relative body weight gain was lower in preterm than in term. Gestational age at birth (GAB) did not alter fasting plasma glucose or insulin, but when fed, plasma insulin and glucose rose more slowly, and reached peak value later, in preterm than in term. Feeding increased Ks in longissimus dorsi (LD) and gastrocnemius muscles, heart, pancreas, and kidney in both GAB groups, but the response was blunted in preterm. In diaphragm, lung, jejunum, and brain, feeding increased Ks regardless of GAB. Liver Ks was greater in preterm than term and increased with feeding regardless of GAB. In all tissues, changes in 4EBP1, S6K1, and PKB phosphorylation paralleled changes in Ks. In LD, eIF4E·eIF4G complex formation, phosphorylation of TSC2, mTOR, and rpS6, and association of mammalian target of rapamycin (mTOR1) complex with RagA, RagC, and Rheb were increased by feeding and blunted by prematurity. There were no differences among groups in LD protein degradation markers. Our results demonstrate that preterm birth reduces weight gain and the protein synthetic response to feeding in muscle, pancreas, and kidney, and this is associated with blunted insulin- and/or amino acid-induced translation initiation signaling.

Does creating a dome reduce recurrence in congenital diaphragmatic hernia following patch repair?

PURPOSE: To develop a quantifiable approach to identify a dome shape of the repaired diaphragm using post-operative chest radiograph and to determine if a dome-shaped prosthetic patch repair is associated with a decreased rate of CDH recurrence. METHODS: We conducted a retrospective review of all neonates evaluated at our institution from January 2004 to August 2017 with left- and right-sided CDH with at least 6 months of follow-up after CDH repair. Patch use, post-operative imaging and postnatal outcomes were analyzed. Neonates with patch repair were divided into two groups based on the presence of a dome. Using postoperative chest radiographs, the presence of a dome was classified as having a vertical-horizontal diaphragm ratio (VHDR) greater than 20%. Primary outcome was CDH recurrence after repair. RESULTS: We identified 192 neonates who met our inclusion criteria. Cohort survival was 96%, recurrence rate was 15%, 78% had a left-sided CDH; 54% received a patch repair, of which 58% had a type C defect. Of the 104 infants with patch repairs, the CDH recurrence rate was 22% (n = 23) at a median age of 8.5 months (3.8, 20.1). Although neonates with a dome repair had more ECMO use and longer hospital stay, their recurrence rate was about half of those with a non-dome repair (14% vs 28%, p = 0.07). CONCLUSIONS: A dome-shaped repair may reduce recurrence following prosthetic patch repair of congenital diaphragmatic hernia. A larger, multi-institutional study is needed to statistically validate this clinically significant observation. TYPE OF STUDY: Retrospective review. LEVEL OF EVIDENCE: III.

Accuracy of prenatal and postnatal imaging for management of congenital lung malformations.

PURPOSE: The purpose of this study was to compare the accuracy of prenatal and postnatal imaging modalities for evaluation and management of congenital lung malformations (CLMs). METHODS: A retrospective review was performed of all fetuses evaluated for a CLM between December 2001 and January 2018. Pre and postnatal imaging findings, operative treatment, and patient outcomes were collected. Patients were included in analysis if they had fetal imaging (US and/or fetal MRI), a postnatal chest CT, and surgical pathology. RESULTS: Over the study period, we identified 157 patients with prenatal imaging that also had a follow-up with postnatal chest CT at a median age of 2.1 [1.4, 3.2] months. Of these, 75% (n = 117) had surgical resection. Diagnostic accuracy (DA) for localization of unilobar lesions was 100% for pre- and postnatal imaging and 97% vs 98% for multilobar disease, respectively. On comparison for identification of aberrant vasculature and pathology prediction, pre- and postnatal imaging DAs were similar. However, postnatal CT had the highest specificity for diagnosing lesions overall (p < 0.05). CONCLUSION: Prenatal imaging provides valuable information for counseling and possible fetal intervention. However, this study suggests that postnatal CT scan continues to provide important information for preoperative counseling and surgical management. TYPE OF STUDY: Retrospective study. LEVEL OF EVIDENCE: Level IV.

Early vs late resection of asymptomatic congenital lung malformations.

PURPOSE: To examine postsurgical outcomes of a consecutive series of children treated with elective operations for congenital lung malformations (CLM). METHODS: A retrospective review was performed on a prospectively collected dataset of all fetuses evaluated for a CLM between July 2001 and June 2016. Prenatal findings, operative treatment and postnatal outcomes were collected. Children having elective operations were divided in two groups based on age at time of surgery. RESULTS: Of 220 fetuses, 143 had operations and follow-up at our center. Six had open fetal lobectomy, 17 had EXIT-to-resection, 16 infants had urgent resection for symptoms and 110 with asymptomatic lesions had elective resection. Of these 110, the median fetal maximum CVR was 0.8 [range 0.1-2.2], and median age at operation was 4 (1.5-60) months (58% had resection at ≤4 months). Overall complication rate, including air-leak and pleural effusion, was 15%. When comparing those having resection at ≤4 months to those >4 months, there were no significant differences in complication rates or length of stay. Operative time was shorter for patients with early resection (154 ±â€¯59 vs 181 ±â€¯89, p = 0.05). No infant having resection at ≤4 months was readmitted. Overall, children survived with good recovery. CONCLUSION: Early elective resection of congenital lung malformations prior to 4 months of age is feasible and not associated with increased operative risk. TYPE OF STUDY: Restropective study. LEVEL OF EVIDENCE: Level III.

Fetal echocardiography (ECHO) in assessment of structural heart defects in congenital diaphragmatic hernia patients: Is early postnatal ECHO necessary for ECMO candidacy?

PURPOSE: The purpose of this study was to determine the accuracy of fetal echocardiogram (ECHO) for detecting cardiac structural anomalies that may impact Extracorporeal Membrane Oxygenation (ECMO) candidacy in infants with Congenital Diaphragmatic Hernia (CDH). METHODS: A retrospective review was performed on fetuses with CDH (January 2007-June 2017). Inclusion criteria were inborn and at least one prenatal and postnatal ECHO. ECHOs were evaluated for structural heart defects. Primary outcomes were accuracy of prenatal fetal ECHO and identify differences between prenatal and postnatal ECHO. Descriptive statistics and Chi-square analysis were performed. RESULTS: 131 inborn patients were identified. Mean gestational age of fetal ECHO was 26.6 ±â€¯5.5 weeks. The median time to postnatal ECHO was DOL 1 [0-30]. Fetal ECHO had 92% accuracy, 83% sensitivity, 93% specificity, PPV of 95%, NPV of 92%, and a 90% accuracy for visualization of at least one pulmonary vein into the left atrium on the contralateral (non-CDH) side. Thirty-five percent of patients received ECMO, and 26% had an associated cardiac anomaly. All ECMO patients had an accurate structural fetal ECHO. CONCLUSION: Fetal ECHO is sufficient for identifying major structural heart defects at large volume centers with trained pediatric cardiologists and may be used to guide clinical management, particularly in regards to ECMO candidacy. LEVEL OF EVIDENCE: Level III.

Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome.

PURPOSE: The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital. METHODS: A retrospective review of infants evaluated at Texas Children's Hospital for BWS from August 2000 to December 2016 was performed. Data collected included demographic information, clinical presentation, genetic evaluation, fetal imaging, operative treatment, and outcomes. RESULTS: Forty-seven children with a diagnosis of BWS were identified. Sixty-four percent (n=30) had a genetic mutation in an imprinting domain of chromosome 11p15. Thirty-two patients (68%) underwent at least one operation related to BWS with a median of 2 [range: 0-8] surgical procedures per patient. Sixteen underwent omphalocele repair, 12 had partial glossectomies-, 7 underwent surgeries related to hemihypertrophy, and 6 had resection of an embryonal tumor (two adrenal cortical adenoma, one Wilms' tumor, two hepatoblastoma). Overall, survival was 100% with feeding difficulty (47%) being the most frequent complication. CONCLUSION: A substantial number of patients with Beckwith-Wiedemann Syndrome will require surgery. However, overall outcomes are similar between those that require surgery and those that do not. LEVEL OF EVIDENCE: Level III.

Predictive value of oxygenation index for outcomes in left-sided congenital diaphragmatic hernia.

BACKGROUND & OBJECTIVES: Congenital Diaphragmatic Hernia (CDH) is associated with significant morbidity and mortality. This study compares the efficacy of the highest oxygenation index in the first 48 h (HiOI) versus current prenatal indices to predict survival and morbidity. METHODS: Medical records of 50 prenatally diagnosed, isolated, left-sided CDH patients treated from January 2011 to April 2016 were reviewed. Data abstracted included HiOI, lung to head ratio (LHR), observed to expected total fetal lung volume (O/E TFLV), percent liver herniation (%LH), 6 month survival, respiratory support at discharge, ventilator days and length of stay. Data were analyzed using parametric and nonparametric tests and regression analyses as appropriate. RESULTS: HiOI was associated with significantly increased LOS (p<0.001), respiratory support at discharge (p<0.001), greater ventilator days (p=0.001) and higher odds of death (p=0.004) with risk of death increasing by 5% for every one-unit increase in OI. HiOI was statistically a better predictor of LOS than O/E TFLV (p=0.007) and %LH (p=0.02). CONCLUSIONS: In isolated, left-sided CDH patients, HiOI is associated with higher mortality, greater length of stay, more ventilator days and increased respiratory support at discharge. HiOI is a better predictor of length of stay than O/E TFLV and %LH. TYPE OF STUDY: Retrospective Study LEVEL OF EVIDENCE: II.

Necrotizing enterocolitis in patients with congenital heart disease: A single center experience.

PURPOSE: The purpose of this study was to evaluate the characteristics of patients with congenital heart disease (CHD) who developed necrotizing enterocolitis (NEC). METHODS: A retrospective review of neonates with CHD at a tertiary care center between January 2006 and January 2016 was performed. Diagnosis of NEC was based on modified Bell's criteria. Patients were grouped by Risk Adjustment for Congenital Heart Surgery (RACHS-1) or by ductal-dependent (DD) lesions that require a patent ductus arteriosus to supply pulmonary or systemic circulation. RESULTS: Of 1811 neonates with CHD, 3.4% (n=61) developed NEC. Eighteen (30%) of these required surgical management. The rate of NEC among DD patients was 5% (n=33/653), compared to 2.4% (n=28/1158) in the non-DD group (p=0.003). RACHS-1 score>2 had a higher rate of NEC 6.2% (41/658) compared to RACHS-1≤2 cases, 1.7% (20/1153) (p=0.005). DD patients and complex patients with RACHS-1>2 were more likely to develop NEC after cardiac surgery. Hypoplastic left heart syndrome patients had a rate of 9% (n=16/185). Surgical NEC was more prevalent in the non-DD group. Mortality was similar among groups. CONCLUSION: CHD patients with ductal-dependent lesions or complex cases (RACHS-1 score>2) have higher rates of NEC than non-ductal-dependent patients or RACHS-1 score of 2 or less. Mortality is similar regardless of ductal dependence, but surgical NEC was more prevalent in non-DD patients. LEVEL OF EVIDENCE: Level IIb.

Prenatal diagnosis and outcome of fetal gastrointestinal obstruction.

INTRODUCTION: The purpose of this study was to evaluate the accuracy of prenatal diagnosis for fetuses with gastrointestinal (GI) obstruction with correlation to postnatal outcomes. METHODS: Fetuses diagnosed with GI obstruction (excluding esophageal and duodenal) were reviewed for those evaluated between 2006 and 2016. Prenatal diagnosis and imaging studies were compared to postnatal findings. Outcomes evaluated included diagnostic accuracy, rate of other anomalies, neonatal length of stay, incidence of short bowel syndrome, and discharge with TPN or gastrostomy. RESULTS: Forty-eight patients were diagnosed prenatally with obstruction. Six patients were excluded owing to incomplete records and follow-up. Twelve fetuses were diagnosed with ultrasound alone, and thirty-four with ultrasound and MRI. A diagnosis of obstruction was accurate in 88.1% (n=37/42) with a positive predictive value of 91.3%, while US with MRI had an accuracy of 84.4%. Associated anomalies were highest among fetuses with anorectal obstruction (90.1%), compared to large (50%) or small bowel obstruction (28%). Survival rate was lowest for anorectal obstruction (54.5%), compared to large or small bowel obstruction (100% for both). CONCLUSION: Fetal MRI is an accurate modality in the diagnosis of fetal GI obstruction and can complement findings characterized by ultrasound. Fetuses with anorectal obstruction have a higher rate of associated anomalies and the lowest survival. LEVEL OF EVIDENCE: IIb.

Use of renal near-infrared spectroscopy measurements in congenital diaphragmatic hernia patients on ECMO.

INTRODUCTION: This study tests the hypothesis that renal tissue oxygen saturation as measured by Near Infrared Spectroscopy (NIRS) would correlate with urine output in neonates with congenital diaphragmatic hernia (CDH) on extracorporeal membrane oxygenation (ECMO). METHODS: Between 2012 and 2015, neonates with CDH were enrolled as part of a comprehensive study that provided renal/cerebral/abdominal NIRS monitoring for the duration of ECMO support. Continuous NIRS measurements, mean arterial pressure, and urine output were recorded. Periods of anuria (NU), adequate urine output >1ml/kg/h (AU), and low urine output <1ml/kg/h (LU) were noted and analyzed. RESULTS: Over 1500h of continuous renal NIRS were obtained from six neonates. NIRS values were significantly different during periods of AU, LU, and anuria (84±6%, 76±3%, and 67±6%, p<0.01). ROC curves identified NIRS >76% as highly predictive of adequate urine output (AUC=0.96). MAP was significantly lower only in anuric patients, 36.42±10.26, compared to patients with AU and LU - 42.99±5.25 and 42.85±7.4, respectively (p<0.001). CONCLUSION: Renal NIRS measurements correlate with urine production. Lower values are noted as urine output declines and precedes a decline in MAP. Renal NIRS may have promise as a non-invasive means of determining adequacy of renal perfusion and urine output in neonates with complex fluid shifts. LEVEL OF EVIDENCE: IIb.

A novel multimodal computational system using near-infrared spectroscopy predicts the need for ECMO initiation in neonates with congenital diaphragmatic hernia.

BACKGROUND/PURPOSE: The purpose of this study was to develop a computational algorithm that would predict the need for ECMO in neonates with congenital diaphragmatic hernia (CDH). METHODS: CDH patients from August 2010 to 2016 were enrolled in a study to continuously measure cerebral tissue oxygen saturation (cStO2) of left and right cerebral hemispheres. NIRS devices utilized were FORE-SIGHT, CASMED and INVOS 5100, Somanetics. Using MATLAB©, a data randomization function was used to deidentify and blindly group patient's data files as follows: 12 for the computational model development phase (6 ECMO and 6 non-ECMO) and the remaining patients for the validation phase. RESULTS: Of the 56 CDH patients enrolled, 22 (39%) required ECMO. During development of the algorithm, a difference between right and left hemispheric cerebral oxygenation via NIRS (ΔHCO) was noted in CDH patients that required ECMO. Using ROC analysis, a ΔHCO cutoff >10% was predictive of needing ECMO (AUC: 0.92; sensitivity: 85%; and specificity: 100%). The algorithm predicted need for ECMO within the first 12h of life and at least 6h prior to the clinical decision for ECMO with 88% sensitivity and 100% specificity. CONCLUSION: This computational algorithm of cerebral NIRS predicts the need for ECMO in neonates with CDH. LEVEL OF EVIDENCE: II.

Spinal arteriovenous malformation associated with spinal metameric syndrome: a treatable cause of long-term paraplegia?

Cutaneomeningospinal angiomatosis, or Cobb syndrome, is a rare metameric developmental disorder presenting as an extradural-intradural vascular malformation that involves bone, muscle, skin, spinal cord, and nerve roots. A 14-year-old girl with a red nevus involving the T6-9 dermatomes on the left side of her back presented with a 5-year history of bowel and bladder incontinence, paraplegia, and lower-extremity sensory loss. Magnetic resonance imaging demonstrated a hemangioma in the T-8 and T-9 vertebral bodies and a spinal cord AVM nidus extending from T-6 to T-9. The AVM was successfully embolized and the patient regained lower-extremity strength, ambulation, and normal sphincter functions after 5 years of having been wheelchair bound. The authors report the restoration of ambulation after endovascular embolization of a large spinal AVM in a patient with long-standing paraplegia due to Cobb syndrome.

Meiotic recombination and male infertility: from basic science to clinical reality?

Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.