David W. Kays

Congenital diaphragmatic hernia : Epidemiology and outcome

Congenital diaphragmatic hernia is a relatively common birth defect. It affects about 1114 babies a year in the United States. Reported survival averages 60% but may be significantly lower. We do not understand the etiology of CDH. Its association with other anomalies and several distinct patterns of presentation suggest that more than one cause may exist. There is a high degree of variability in both treatment and outcomes, but no data exist to allow a rigorous comparison of the efficacy of various treatment strategies. Stratification of patients into more homogeneous groups will be a necessary prerequisite for the design of meaningful comparative trials. The incidence of the lesion prevents any single institution from accruing sufficient patients to conduct such a trial. An ad hoc multicenter study group (the Congenital Diaphragmatic Hernia Study Group) has been formed for this purpose. This organization has begun collecting data with an initial goal of developing a stratification scheme. Prospective data collection should allow verification of several of the estimates made in this article. Current data make it clear that CDH represents a major cause of perinatal morbidity and mortality.

Detrimental Effects of Standard Medical Therapy in Congenital Diaphragmatic Hernia

OBJECTIVE To evaluate the impact of a nonstandard ventilation strategy on survival in congenital diaphragmatic hernia (CDH). BACKGROUND Despite recent advances, including nitric oxide, CDH remains an unsolved problem with a mortality rate of 35% to 50%. Hyperventilation and alkalization remain common therapies. METHODS In 1992, the authors prospectively abandoned hyperventilation and alkalization. Patients are lightly sedated and ventilated with the lowest pressure providing adequate chest movement, and the rate is set to patient comfort. Nitric oxide and extracorporeal membrane oxygenation (ECMO) are reserved for life-threatening instability. Surgical repair is delayed 1 to 5 days. Sixty consecutive patients are compared with 29 previous patients treated with hyperventilation and alkalization, 13 before and 16 after the availability of ECMO. RESULTS Overall, 47 of 60 patients (78%) in study era 3 survived compared with 2 of 13 (15%) in the hyperventilation era and 7 of 16 (44%) in the hyperventilation/ECMO era (p < 0.0001). The disease severity and the incidence of associated anomalies did not differ between groups. To compare management strategies, patients who had treatment withheld because of lethal associated conditions were then removed from analysis. Peak inspiratory pressure and arterial pH were lower (p < 0.0001) and Paco2 was higher (p < 0.05) in era 3 than in the previous eras. The rate of pneumothorax (1.9%) decreased (p < 0.0001). In era 3, survival was 47 of 53 (89%) treated patients, and 23 of 25 inborn patients with isolated CDH survived (92%). CONCLUSIONS Nonstandard ventilatory support of patients with CDH has led to significantly improved survival rates. This study sets a survival benchmark and strongly suggests the negative effects of hyperventilation and alkalization.

Outcomes of treatment of childhood achalasia

PURPOSE The optimal management of achalasia in children and adolescents remains unclear. The aim of this study was to review a single institutions experience with endoscopic and surgical interventions in children with achalasia. METHODS A retrospective review was conducted of the medical records of children treated for achalasia from 1978 to 2008. Patient demographics and interventions were reviewed. Outcomes after procedural intervention were evaluated. RESULTS Thirty-five patients with achalasia were identified, and data were available for 34 (age, 13 +/- 6 years; male, 62%). Eighteen patients underwent esophageal dilation (ED), and 16 patients underwent Heller myotomy (HM). Follow-up was available for 30 patients (ED, 15; HM, 15). There was symptom recurrence in 15 of 15 ED cases and 8 (53%) of 15 HM cases (P < .01). Additional interventions were performed in 14 (93%) of 15 ED cases and 6 (40%) of 15 HM cases (P < .01). CONCLUSIONS Heller myotomy may provide more durable long-term outcomes, as defined by symptom recurrence and need for subsequent intervention, and may be considered the procedure of choice.

A Pilot Study of Novel Biomarkers in Neonates With Hypoxic-Ischemic Encephalopathy

Severe hypoxic-ischemic encephalopathy (HIE) is a devastating condition that can lead to mortality and long-term disabilities in term newborns. No rapid and reliable laboratory test exists to assess the degree of neuronal injury in these patients. We propose two possible biomarkers: 1) phosphorylated axonal neurofilament heavy chain (pNF-H) protein, one of the major subunits of neurofilaments, found only in axonal cytoskeleton of neurons and 2) Ubiquitin C-terminal hydrolase 1 (UCHL1 protein) that is heavily and specifically concentrated in neuronal perikarya and dendrites. High-serum pNF-H and UCHL1 levels are reported in subarachnoid hemorrhage and traumatic brain injury, suggesting that they are released into blood following neuronal injury. We hypothesized that serum pNF-H and UCHL1 were higher in neonates with moderate-to-severe HIE than in healthy neonates. A time-limited enrollment of 14 consecutive patients with HIE and 14 healthy controls was performed. UCHL1 and pNF-H were correlated with clinical data and brain MRI. UCHL1 and pNF-H serum levels were higher in HIE versus controls. UCHL1 showed correlation with the 10-min Apgar score, and pNF-H showed correlation with abnormal brain MRI. Our findings suggest that serum UCHL1 and pNF-H could be explored as diagnostic and prognostic tools in neonatal HIE.

Traumatic aortic injuries in the pediatric population

BACKGROUND/PURPOSE Blunt trauma is the leading cause of pediatric injury, but pediatric aortic injuries are rare. We undertook this study to investigate the demographics, treatment, and outcomes of children with blunt aortic injuries and report our experience over a 10-year period. METHODS After Institutional Review Board approval, a 10-year retrospective review of all pediatric patients admitted with blunt aortic injury was performed. Patient demographics, injury details and severity score (Injury Severity Score), treatment, and outcomes were recorded. RESULTS There were 11 children, with ages ranging from 7 to 19 years. The most common mechanism of injury was motor vehicle crashes (8). Initial computed tomography demonstrated all 11 injuries: 7 thoracic aortic (TA) and 4 abdominal aortic (AA) injuries. Associated injuries were common. The TA injuries included 4 transections, 2 intimal flaps, and 1 pseudoaneurysm. Three of these were managed nonoperatively. The AA injuries included 3 intimal flaps and 1 dissection. Three of these were also managed nonoperatively. There were no complications in the 4 children with AA or in the 3 children with TA managed nonoperatively. Complications in the 4 children undergoing operative repair of the TA included paraplegia, renal failure, recurrent laryngeal nerve injury, and pulmonary embolus. The mean hospital stay was 8 days. All children survived, with all but one discharged directly to home. CONCLUSIONS Blunt aortic injury in children is uncommon and is primarily associated with motor vehicle crashes. Injuries to the abdominal aorta were seen with restrained children vs those to the thoracic aorta that were seen in children who were unrestrained.

Equestrian injuries in children

PURPOSE Equestrian activities are regarded by some as high-risk sports, and our recent experience suggested this to be true. We undertook this study to review our experience with pediatric equestrian injuries. METHODS After institutional review board approval, we reviewed emergency department and hospital admissions for children 0 to 18 years, with equestrian trauma, over an 11-year period. RESULTS There were 164 encounters with 135 girls and 29 boys. Most injuries (82%) occurred after falling or being thrown from the animal, and only 12% occurred during jumping or rodeo competitions. The remaining injuries were secondary to being trampled, kicked, or trapped under the animal. Eighty-seven children required hospital admission. Lacerations and contusions (58%) or orthopedic injuries (31%) were most common in the emergency department cohort. In the admission cohort, injury sites included orthopedic (34%), head (23%), abdomen (21%), and chest (11%). Multiple injuries occurred in 13%. A significant number of children required surgical interventions, including 19 orthopedic procedures, 4 laparotomies, 3 facial reconstructions, and 2 craniotomies. The average length of stay was nearly 4 days, with 60% of the children requiring intensive care admission. There were no deaths. One child was discharged to rehab, the rest were sent home. CONCLUSIONS In our experience, more than one third of the children admitted after sustaining injuries in horse-related sports required surgical interventions. Children participating in equestrian activities are at risk for substantial injury, and pediatric care providers must maintain a high index of suspicion when evaluating these children.

Pediatric basal cell carcinoma: case reports and literature review

Basal cell carcinoma (BCC) is a rare disease in the pediatric population that usually presents in children with predisposing genetic conditions. It is often diagnosed on final pathology of an excisional biopsy, and the treatment may be delayed in younger populations because of a physicians low index of suspicion. Increased knowledge of BCC by pediatric caregivers would expedite definitive therapy for childhood BCC as well as any necessary evaluation by subspecialists for predisposing syndromes. We report 3 cases of BCC in pediatric patients and review the literature concerning BCC in children.

Unilateral pulmonary agenesis, esophageal atresia, and distal tracheoesophageal fistula

A small-for-gestational-age, premature infant with the combination of unilateral pulmonary agenesis, esophageal atresia, and distal tracheoesophageal fistula was treated successfully by early gastrostomy and delayed fistula division with esophagoesophagostomy. Only 2 other successfully treated cases have been reported previously. Both were full-term infants treated with early division of the tracheoesophageal fistula and esophagoesophagostomy. Gestational age, size, and associated medical problems need to be considered when planning operative therapy for these babies.

Extracorporeal Life Support in Patients with Congenital Diaphragmatic Hernia: How Long Should We Treat?

BACKGROUND Congenital diaphragmatic hernia (CDH) is a frequently lethal birth defect and, despite advances, extracorporeal life support (ie, extracorporeal membrane oxygenation [ECMO]) is commonly required for severely affected patients. Published data suggest that CDH survival after 2 weeks on ECMO is poor. Many centers limit duration of ECMO support. STUDY DESIGN We conducted a single-institution retrospective review of 19 years of CDH patients treated with ECMO, designed to evaluate which factors affect survival and duration of ECMO and define how long patients should be supported. RESULTS Of two hundred and forty consecutive CDH patients without lethal associated anomalies, 96 were treated with ECMO and 72 (75%) survived. Eighty required a single run of ECMO and 65 survived (81%), 16 required a second ECMO run and 7 survived (44%). Of patients still on ECMO at 2 weeks, 56% survived, at 3 weeks 46% survived, and at 4 weeks, 43% of patients still on ECMO survived to discharge. After 5 weeks of ECMO, survival had dropped to 15%, and after 40 days of ECMO support there were no survivors. Apgar score at 1 minute, Apgar score at 5 minutes, and Congenital Diaphragmatic Hernia Study Group predicted survival all correlated with survival on ECMO, need for second ECMO, and duration of ECMO. Lung-to-head ratio also correlated with duration of ECMO. All survivors were discharged breathing spontaneously with no support other than nasal cannula oxygen if needed. CONCLUSIONS In patients with severe CDH, improvement in pulmonary function sufficient to wean from ECMO can take 4 weeks or longer, and might require a second ECMO run. Pulmonary outcomes in these CDH patients can still be excellent, and the assignment of arbitrary ECMO treatment durations <4 weeks should be avoided.

Extradural myxopapillary ependymoma: report of two cases and review of the literature.

The cauda equina is the most frequent location for ependymomas, particularly the myxopapillary variant, which generally arises from the filum terminale. These tumors have a characteristic histopathologic pattern and are usually easily recognized. The occurrence of these tumors in an extradural, sacrococcygeal, or subcutaneous location may prove challenging, particularly in the absence of any obvious central nervous system connection. We describe two such extradural cases, one with multiple regional and distant metastases and the other with multiple recurrences. The origin of these tumors from subcutaneous sacrococcygeal ependymal rests is postulated on the basis of earlier reports. Clinical and histopathological features are described and a review of the literature is presented.