National burden of pediatric abusive injuries: patterns vary by age.

PURPOSE: Child abuse is often unrecognized by healthcare practitioners. This study sought to characterize pediatric abuse injury patterns and associated mortality rates in a nationwide cohort. METHODS: The Kids' Inpatient Database (1997-2012) was queried for patients < 18 years old with a diagnosis of child abuse (utilizing ICD-9 codes for abusive head trauma [AHT], neglect, physical, emotional, sexual, and other abuse). Demographic factors, mortality, and injury patterns were compared with demographic factors using standard statistical tests. RESULTS: > 39,000 children were hospitalized for abuse from 1997 to 2012. The majority were Caucasian (36%), male (51%) and < 4 years old (70%). Most sustained physical abuse (53%), followed by AHT (14%), sexual (9%) and emotional abuse (2%). Multiple injuries were sustained by 44% of patients. Mortality was 4% (n = 1476). Burns (2%) and intrathoracic (2%) injuries had the highest mortality compared to other injuries (21% and 19%, respectively; both P < 0.001). Emotional abuse (5%) and neglect (1%) were highest in those ≥ 13 years old (both P  = 0.001). CONCLUSION: Physical injuries are less common in adolescents (13-18 years) hospitalized for abuse. However, they are more likely to report emotional abuse and neglect, which has not been compared in previous studies. Intrathoracic injuries and AHT are associated with significant mortality.

Liquid Nitrogen Applied at Point of Sale: A New Presentation of Gastric Perforation in Children.

ABSTRACT: The August 30, 2018, US Food and Drug Administration advisory warned consumers to avoid eating, drinking, or handling food products prepared with liquid nitrogen (LN) (US FDA. Safety Alerts & Advisories: FDA Advises Consumers to Avoid Eating, Drinking, or Handling Food Products Prepared with Liquid Nitrogen at the Point of Sale. US Food and Drug Administration). We report on the case of a pediatric patient sustaining gastric perforation after ingestion of LN applied to food at the point of sale in the United States. "Dragon's Breath" is a popular snack of cereal puffs coated in LN giving the allusion of breathing smoke on ingestion. Instructions provided by vendors include avoidance of touching or drinking the liquid in the bottom of the cup. We report on a case of a 9-year-old girl presenting with peritonitis and gross pneumoperitoneum after consumption of Dragon's Breath with injury conferred secondary to LN ingestion. Intraoperative finding of a large perforation along the lesser curvature of the stomach was repaired primarily with an omental overlay. Her postoperative course was complicated by pneumonia and a surgical site infection. She was discharged 13 days after admission. A review of the literature of previous case reports of LN ingestion by intentional or accidental means is provided. This case report and review of the literature bring awareness of the dangers posed to pediatric patients exposed to LN applied at the point of sale.

Protocol-Driven Surgical Care of Necrotizing Enterocolitis and Spontaneous Intestinal Perforation.

BACKGROUND: There is no clear consensus on the optimal operative management of premature infants with surgical necrotizing enterocolitis (sNEC) or spontaneous intestinal perforation (SIP); thus, a protocol was developed to guide surgical decision making regarding initial peritoneal drainage (PD) versus initial laparotomy (LAP). We sought to evaluate outcomes after implementation of the protocol. METHODS: Pre-post study including multiple urban hospitals. Premature infants with sNEC/SIP were accrued after implementation of surgical protocol-directed care (June 2014-June 2019). Patients with a birth weight of <750 g and less than 2 wk of age without pneumatosis or portal venous gas were treated with PD on perforation. PD patients received subsequent LAP for clinical deterioration or continued meconium/bilious drainage. Postprotocol characteristics and outcomes were compared with institutional historical controls. Significance set at P < 0.05. RESULTS: Preprotocol and postprotocol cohorts comprise 35 and 73 patients, respectively. There was a statistically significant difference in age at intervention between historical control PD (14 ± 13 d) and postprotocol PD (9 ± 4 d) groups (P = 0.01), PD patient's birth weight (716 ± 212 g versus 610 ± 141 g, P = 0.02) and estimated gestational age of LAP patients (27 ± 1.7 wk versus 31 ± 4 wk, P = 0.002). PD was definitive surgery in 27% (12 of 44) of postprotocol patients compared with 13% (3 of 23) historical controls. A trend in improved survival postprotocol occurred in all PD infants (73% versus 65%), all LAP (75% versus 70%), and for initial PD and subsequent LAP (82% versus 67%). CONCLUSIONS: Utilization of a surgical protocol in sNEC/SIP is associated with improved success of PD as definitive surgery and improved survival.

Analysis of water sports injuries admitted to a pediatric trauma center: a 13 year experience.

BACKGROUND: Unintentional injury is the leading cause of death in children and adolescents. Injuries occurring during boating and recreational water sports are poorly described in the literature. Herein, we compare injuries from water sports to those resulting from motor vehicle collisions, which are better described in existing literature. METHODS: A retrospective review of 1935 consecutive pediatric trauma patients, as defined by age < 18 years, admitted to a single level-1 pediatric trauma center between January 2000 and August 2013 was performed. Patients were divided into two cohorts based on the mechanism of injury: water sports injury (WSI) or motor vehicle collision (MVC). Demographics, injury descriptors, and outcomes were reviewed for each patient. Categorical variables were compared by Chi square or Fisher's exact test, and continuous by t test or Mann-Whitney U test. Parametric data are reported as mean ± standard deviation and nonparametric as median (interquartile range). Significance was set at alpha level 0.05. RESULTS: A total of 18 pediatric patients were admitted for WSI and 615 for MVC during the study period. Among those with WSI, mean age was 12 ± 4 years, mean Injury Severity Score (ISS) was 11 ± 10, and mean Revised Trauma Score (RTS) was 7.841(IQR 6.055-7.841). 44% of WSI occurred by personal watercraft (Jet Ski, WaveRunner), 39% by boat, and 17% by other means (e.g., diving, tubing, kite surfing). Overall, the most common WSI included skin/soft-tissue lacerations (59%), head injury/concussion (33%), tendon/ligament lacerations (28%), and extremity fractures (28%). Compared to 615 patients admitted for MVC, age, sex, race, Glasgow Coma Scale, ISS, RTS, spleen and liver laceration rates, neurosurgical consultation, ICU admission, ICU and total length of stay, and mortality were similar. Patients with WSI were more likely to be tourists (44% vs. 5%, p < 0.001). Those with WSI showed a significantly higher requirement for any surgical intervention (61% vs. 15%, p = 0.001). The rate of open fracture (28% vs. 6%, p = 0.006) and, subsequently, orthopedic procedures (39% vs. 17%, p = 0.027) were also higher in the WSI group. CONCLUSION: Overall, water sports injuries are similar in in-hospital mortality to motor vehicle collisions. They are more likely to result in penetrating trauma and more likely to require surgical intervention. Primary and secondary prevention strategies should specifically target personal watercraft usage and tourist populations.

Pediatric papillary thyroid carcinoma: outcomes and survival predictors in 2504 surgical patients.

OBJECTIVE: To evaluate outcomes and predictors of survival of pediatric thyroid carcinoma, specifically papillary thyroid carcinoma. METHODS: SEER was searched for surgical pediatric cases (≤20 years old) of papillary thyroid carcinoma diagnosed between 1973 and 2011. Demographics, clinical characteristics, and survival outcomes were analyzed using standard statistical methods. All papillary types, including follicular variant, were included. RESULTS: A total of 2504 cases were identified. Overall incidence was 0.483/100,000 persons per year with a significant annual percent change (APC) in occurrence of 2.07 % from baseline (P < 0.05). Mean age at diagnosis was 16 years and highest incidence was found in white, female patients ages 15-19. Patients with tumor sizes <1 cm more likely received lobectomies/isthmusectomies versus subtotal/total thyroidectomies [OR = 3.03 (2.12, 4.32); P < 0.001]. Patients with tumors ≥1 cm and lymph node-positive statuses [OR = 99.0 (12.5, 783); P < 0.001] more likely underwent subtotal/total thyroidectomy compared to lobectomy/isthmusectomy. Tumors ≥1 cm were more likely lymph node-positive [OR = 39.4 (16.6, 93.7); p < 0.001]. Mortality did not differ between procedures. Mean survival was 38.6 years and higher in those with regional disease. Disease-specific 30-year survival ranged from 99 to 100 %, regardless of tumor size or procedure. Lymph node sampling did not affect survival. CONCLUSIONS: The incidence of pediatric papillary thyroid cancer is increasing. Females have a higher incidence, but similar survival to males. Tumors ≥1 cm were likely to be lymph node-positive. Although tumors ≥1 cm were more likely to be resected by subtotal/total thyroidectomy, survival was high and did not differ based on procedure.

Surgical management of bronchopulmonary malformations.

BACKGROUND: Bronchopulmonary malformations (BPM) are rare conditions, which typically arise below the carina and can result in significant morbidity (infection and/or hemorrhage) and mortality (respiratory failure). MATERIALS AND METHODS: All children with BPM surgically treated from 2001-2014 at a tertiary care children's hospital were identified. Patient demographics, surgical indications, procedure type, estimated blood loss, pathology, perioperative complications, length of stay, and outcomes were analyzed. RESULTS: A total of 41 BPM patients underwent surgery with 98% overall survival (one abdominal BPM expired) but 100% for thoracic lesions. Resections were performed thoracoscopically (37%), thoracoscopy converted to open (22%), and via thoracotomy (37%). Poor visualization (67%) or inability to tolerate single lung ventilation (33%) led to conversions. No conversions resulted from hemorrhage or received blood transfusions. Patients with prenatally diagnosed BPM were more likely to undergo thoracoscopic surgery (odds ratio [OR], 18.2) versus nonprenatally diagnosed, P = 0.002. Open/converted patients had longer chest tube days (6.2) versus thoracoscopic (2.9), P = 0.048. Additionally, respiratory distress was a more common indication in patients aged <4 mo (OR, 28.0) versus ≥4 mo and <6 kg (OR, 40.5) versus ≥6 kg, P < 0.001. Open resections were more common in patients aged <4 mo (OR, 26.3) versus ≥4 mo, P = 0.002. Operative time was shorter and estimated blood loss (mL/kg) was greater for <6 versus ≥6 kg, P < 0.05. CONCLUSIONS: BPM resections have high overall survival. Chest tube days are shorter among thoracoscopic patients, but conversion to thoracotomy can avoid hemorrhage and need for transfusion. Size and respiratory distress limit use of thoracoscopy in young infants with BPM.

Protocol for suspected pediatric appendicitis limits computed tomography utilization.

BACKGROUND: Despite radiation concerns, computed tomography (CT) remains the favored imaging modality at many children's hospitals for appendicitis. We sought to reduce CT utilization for appendicitis in a children's hospital with an algorithm relying on 24-h ultrasound (US) as the primary imaging study. MATERIALS AND METHODS: An US-based protocol for suspected appendicitis was adopted at the end of the fiscal year (FY) 2011. Data were collected for 12 mo before and 24 mo after implementation. Imaging test usage and charges were adjusted per annual number of appendectomies. Training of emergency department staff continued over 1 y after protocol implementation. RESULTS: For FY 2011, 644 abdominal CT and 1088 appendix US were ordered, and 249 laparoscopic appendectomies (LAs) were performed. After protocol implementation, FY 2012: 535 CT, 1285 US, and 265 LA were performed; and FY 2013: 330 CT, 1235 US, and 236 LA were performed. Length of stay decreased from before to after protocol (2.57 ± 0.29 versus 2.15 ± 0.11 d), P < 0.001. CTs per appendectomy decreased 42% from FY 2011 to FY 2013 (2.43 versus 1.40, P < 0.001) and 30% from before to after protocol (2.43 versus 1.70, P < 0.001). A corresponding 27% increase in number of US before to after protocol (4.11 versus 5.20 US/appendectomy, P = 0.004) occurred. CT and US charges decreased $2253 and $6633 per appendectomy for FY 2012 and 2013, respectively. CONCLUSIONS: Protocol-driven workup with US significantly reduced CT utilization, radiation exposure, and imaging-related charges in children with suspected appendicitis. Ongoing training of emergency department staff is required to ensure protocol compliance.

Patent ductus arteriosus ligation in premature infants in the United States.

BACKGROUND: Patent ductus arteriosus (PDA) is a condition that commonly affects premature and low birth weight (BW) infants at times necessitating surgical intervention. We examined outcomes after surgical ligation (SL). MATERIALS AND METHODS: We analyzed the Kids' Inpatient Database for premature infants diagnosed with PDA, admitted at <8 d of age. Patient demographics, disposition, morbidity, and mortality were analyzed. All cases were weighted appropriately to project nationally representative estimates. RESULTS: A total of 63,208 patients were identified with diagnosis of PDA. Of these, 6766 (10.7%) underwent SL. Lower gestational age (GA) and BW patients had higher incidence of PDA and rates of SL. Overall survival was 90.8% for the cohort. Survival for the SL group was 88.0% and 91.2% for the non-SL group; however, infants undergoing SL had higher survival rates up to 28 wk and 1250 g for GA and BW, respectively. GA did not affect post-SL survival adversely. Rather, lower BW was associated with extremely high mortality rates. Black infants and boys had lower survival compared with other races and girls, respectively. Larger hospitals had higher survival rates, but hospital location, teaching status, and type did not affect survival. Payer status and income quartile did not affect survival. CONCLUSIONS: PDA and SL are more common in lower BW and GA groups. Higher survival rates are found for infants with SL versus non-SL in the lowest BW and GA groups. Morbidity and mortality are not affected by SL timing. BW, rather than GA, determines survival of infants undergoing SL.

A nationwide analysis of clinical outcomes among newborns with esophageal atresia and tracheoesophageal fistulas in the United States.

BACKGROUND: The aim of this study was to examine national outcomes in newborn patients with esophageal atresia and tracheoesophageal fistula (EA/TEF) in the United Sates. METHODS: Kids' Inpatient Database (KID) is designed to identify, track, and analyze national outcomes for hospitalized children in the United States. Inpatient admissions for pediatric patients with EA/TEF for kids' Inpatient Database years 2000, 2003, 2006, and 2009 were analyzed. Patient demographics, socioeconomic measures, disposition, survival and surgical procedures performed were analyzed using standard statistical methods. RESULTS: A total of 4168 cases were identified with diagnosis of EA/TEF. The overall in-hospital mortality was 9%. Univariate analysis revealed lower survival in patients with associated acute respiratory distress syndrome, ventricular septal defect (VSD), birth weight (BW) < 1500 g, gestational age (GA), time of operation within 24 h of admission, coexisting renal anomaly, imperforate anus, African American race, and lowest economic status. Multivariate logistic regression identified BW < 1500 g (odds ratio [OR] = 4.5, P < 0.001), operation within 24 h (OR = 6.9, P < 0.001), GA <28 wk (OR = 2.2, P < 0.030), and presence of VSD (OR = 3.8, P < 0.001) as independent predictors of in-hospital mortality. Children's general hospital and children's unit in a general hospital were found to have a lower mortality rate compared with not identified as a children's hospital after excluding immediate transfers (P = 0.008). CONCLUSIONS: BW < 1500 g, operation within 24 h, GA < 28 wk, and presence of VSD are the factors that predict higher mortality in EA/TEF population. Despite dealing with more complicated cases, children's general hospital and children's unit in a general hospital were able to achieve a lower mortality rate than not identified as a children's hospital.

Endoscopic Management of a Double Duodenal Web: A Case Report of a Rare Alimentary Anomaly.

Duodenal webs are a rare clinical entity with the presentation of a double duodenal web being exceedingly uncommon. Management of duodenal webs traditionally involves duodenal web excision with duodenoduodenostomy, which is usually performed via a laparoscopic or an open approach. We report the case of a 6-month-old child who presented with progressively worsening bilious emesis with imaging findings concerning for a duodenal web. Endoscopic evaluation was performed that identified 2 webs in the fourth portion of the duodenum. These were managed completely endoscopically with balloon dilation. Although surgery is the mainstay of treatment of duodenal webs, this patient was successfully managed by endoscopic intervention without the need for open or laparoscopic excision, which has not been previously described for double duodenal webs. This work demonstrates the safety and efficacy of endoscopic management for infants with this anomaly.

Pediatric Pedestrian Injuries: Striking Too Close to Home.

BACKGROUND: Pediatric pedestrian injuries (PPI) are a major public health concern. This study utilized geospatial analysis to characterize the risk and injury severity of PPI. METHODS: A retrospective chart review of PPI patients (age < 18) from a level 1 trauma center was performed (2013-2020). A geographic information system geocoded injury location to home and other public landmarks. Incidents were aggregated to zip codes and the Local Indicators of Spatial Association statistic tested for spatial clustering of injury rates per 10,000 children. Predictors for increased injury severity were assessed by logistic regression. RESULTS: PPI encompassed 6% (n = 188) of pediatric traumas. Most patients were black (54%), male (58%), >13 years (56%), and with Medicaid insurance (68%). Nine zip codes comprised a statistically significant cluster of PPI. Nearly half (40%) occurred within a quarter mile of home; 7% occurred at home. Most (65%) PPI occurred within 1 mile of a school, and 45% occurred within a quarter mile of a park. Nearly all (99%) PPI occurred within a quarter mile of a major intersection and/or roadway. Using admission to ICU as a marker for injury severity, farther distance from home (OR 1.060, 95% CI 1.001-1.121, p = 0.045) and age <13 years (3.662, 95% CI 1.854-7.231, p < 0.001) were independent predictors of injury severity. CONCLUSIONS: There are significant sociodemographic disparities in PPI. Most injuries occur near patients' homes and other public landmarks. Multidisciplinary injury prevention collaboration can help inform policymakers, direct local safety programs, and provide a model for PPI prevention at the national level. LEVEL OF EVIDENCE: Level IV.

Performance of islets of Langerhans conformally coated via an emulsion cross-linking method in diabetic rodents and nonhuman primates.

Polyethylene glycol (PEG)-based conformal coating (CC) encapsulation of transplanted islets is a promising ß cell replacement therapy for the treatment of type 1 diabetes without chronic immunosuppression because it minimizes capsule thickness, graft volume, and insulin secretion delay. However, we show here that our original CC method, the direct method, requiring exposure of islets to low pH levels and inclusion of viscosity enhancers during coating, severely affected the viability, scalability, and biocompatibility of CC islets in nonhuman primate preclinical models of type 1 diabetes. We therefore developed and validated in vitro and in vivo, in several small- and large-animal models of type 1 diabetes, an augmented CC method-emulsion method-that achieves hydrogel CCs around islets at physiological pH for improved cytocompatibility, with PEG hydrogels for increased biocompatibility and with fivefold increase in encapsulation throughput for enhanced scalability.

The limited role of ultrasound in the surgical assessment of solid pediatric breast lesions.

INTRODUCTION: Ultrasound (US) is an adjunct to history and clinical exam (CE) in the assessment of pediatric breast lesions. We sought to investigate the reliability of US and CE to predict final pathologic diameter (P). METHODS: A single institutional retrospective analysis of patients aged ≤18 years who underwent breast mass resection was performed. Data was collected and analyzed using SPSS. RESULTS: 88 patients met inclusion criteria with an average age at surgery of 16 ± 1.5 years. No malignancies were encountered. The largest mean diameter measured by final pathology (MPØ) for all lesions was 4.1 ± 2.6 cm. Pathology encountered were fibroadenoma (83%, MPØ 3.7 ± 1.7 cm), juvenile fibroadenoma (10%, MPØ 7.0 ± 5.4 cm), and low-grade phyllodes tumor (3%, MPØ 6.2 ± 3.8 cm). 67 patients had documented CE measurement with a mean diameter of 3.4 ± 1.8 cm. 62 patients underwent US with a mean diameter of 3.3 ± 1.6 cm. US and CE were accurate in determining P by Cronbach Alpha reliability testing. CONCLUSION: US and CE are reliable measurements of P. The surgical utility of US when considering pediatric breast lesions is limited and should be individualized following pediatric surgical evaluation and CE.

A retrospective comparison of outcomes for open vs. laparoscopic surgical techniques in pediatric ulcerative colitis.

BACKGROUND: Ulcerative colitis (UC) is an aggressive disease in the pediatric population and a cause of significant, lifelong morbidity. The aim of this study is to compare surgical complications in pediatric patients undergoing laparoscopic vs. open surgical treatment for UC. METHODS: We queried the Kids' Inpatient Database (KID) for all cases of UC undergoing surgical treatment in 2009 and 2012. We identified patients who received total colectomy without proctectomy (n=413) or total proctocolectomy (n=196) and performed univariate and multivariate analyses comparing laparoscopic vs. open procedures. RESULTS: In pediatric UC patients undergoing total colectomy without proctectomy, open procedures were associated with more complications than laparoscopic, including fluid and electrolyte disorders (40% vs. 28%), surgical wound dehiscence (6% vs. 2%), septicemia (18% vs. 2%), and gastrointestinal disorders (16% vs. 7%) among others, all P<0.05. Likewise, in patients with UC undergoing total proctocolectomy, there were more complications in open vs. laparoscopic technique, including increased transfusion requirements (25% vs. 7%, P=0.001) and significantly more gastrointestinal upset, including nausea, vomiting, and diarrhea (11% vs. 1%, P=0.003). In multivariate analysis, patients who underwent total colectomy with or without proctectomy had an increased risk of experiencing any complication when their procedure was performed in an open or non-elective fashion (all odds ratio >2.4; all P<0.001). CONCLUSIONS: The laparoscopic approach was associated with significantly lower rates of surgical complications in pediatric patients undergoing total colectomy with or without proctectomy for UC. These findings demonstrate that laparoscopic technique compares favorably, and may be preferable, to the open approach in selected pediatric patients with UC.

Pediatric thyroid carcinoma: incidence and outcomes in 1753 patients.

OBJECTIVE: To examine outcomes and predictors of survival for pediatric patients with thyroid carcinoma. METHODS: The Surveillance, Epidemiology, and End Results (SEER) registry from 1973 to 2004 was queried for all patients with thyroid carcinoma less than 20 y of age. RESULTS: A total of 1753 patients with malignant thyroid neoplasms were identified with an age-adjusted annual incidence of 0.54 cases per 100,000 persons. There has been a significant increase in the annual incidence by 1.1% per y. Female patients outnumbered males 4 to 1. Tumors were classified as papillary (n=1044, 60%), follicular variant of papillary (n=389, 23%), follicular (n=165, 10%), and medullary (n=87, 5%). The majority of patients presented with localized and regional disease. Overall mean survival time (MST) was 30.5 y. The MST for females was 40 y, whereas males survived an average of 20.4 y (P=0.0001). Patients with medullary cancer had significantly shorter mean survival than those with papillary cancer (P=0.006). Surgical treatment significantly improved outcome. Multivariate analysis demonstrated that male gender, nonpapillary histology, distant disease, and no surgery were all independent prognostic factors of worse outcome. For patients with medullary thyroid carcinoma, radiation therapy was also identified as an independent predictor of lower survival. CONCLUSION: The incidence of pediatric thyroid cancer is increasing. Females have a higher incidence than males, but enjoy longer survival. Papillary thyroid cancer has overall excellent survival. Male gender, nonpapillary tumor, distant metastases, and nonsurgical treatment all predict worse outcome.

Incidence and outcomes of malignant pediatric lung neoplasms.

BACKGROUND: We sought to define current incidence trends and outcomes for children with lung and bronchus tumors. METHODS: The SEER registry was queried from 1973 to 2004 for all patients with pulmonary tumors less than 20 y of age. RESULTS: Overall, 160 patients were identified. The age-adjusted incidence has remained stable at 0.049 per 100,000 persons. The median age at diagnosis was 16 y. Whites had the highest age-adjusted population incidence at 0.056 per 100,000. Most tumors arose in the lower lobe (37%), followed by the upper lobe (31.2%). The most common histology was endocrine tumor (51.6%), followed by sarcoma (11%), and mucoepidermoid tumor (9%). Overall survival was greater than 381 mo with a 15-y survival of 65%. Males had better survival (>381 versus 288 months). Endocrine and mucoepidermoid tumors had the best survival. Small cell carcinoma had the worst median survival at less than 5 mo. Squamous cell carcinoma and adenocarcinoma both had a 14-mo median survival. Median survival for nonsurgically treated patients was 14 mo with a 10-y survival rate of 32%. Surgery improved the 10-y survival to 75% (P<0.0001). Multivariate analysis demonstrated nonsurgical treatment and nonendocrine tumor histology to be independent prognostic factors of death. CONCLUSION: The incidence of pediatric lung cancer remains stable. Several factors, including nonsurgical treatment and nonendocrine tumors confer a poor prognosis. Early diagnosis and surgical therapy provide the best chance for survival.

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction.

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.

Predictors of in-hospital mortality in newborn conjoined twins.

BACKGROUND: Conjoined twins are rare developmental anomalies. There is a paucity of literature other than case reports and small case series. The aim of this study was to examine national outcomes and identify predictors of mortality in newborn conjoined twins. METHODS: We reviewed data on newborn conjoined twins from the Kids' Inpatient Database (1997-2012). RESULTS: A total of 240 patients were identified for a nationally weighted incidence of 1 per 100,000 live births. The majority of conjoined twins were female (n = 190 [81%]). The most commonly associated anomalies were cardiac (n = 87 [36%]), gastrointestinal (n = 41 [17%]), and abdominal wall (n = 32 [13%]) defects. Fifty-six (23%) patients underwent operative procedures, including 28 (12%) neonatal separation surgeries. The overall mortality rate was 61%; most deaths occurred within 24 hours (99 of 146 [68%]) to 48 hours (129 of 146 [88%]) after birth. Mortality was higher in female compared with male children (66% vs 38%, P = .025), premature compared with full-term children (72% vs 44%, P = .007), and in children with extremely low birth weight (95% vs 59%, P = .002). Congenital diaphragmatic hernias were seen in 15 (6%) patients and were uniformly fatal (100% vs 58%, P = .029). Mortality was highest in hospitals not designated as children's hospitals (72%) compared with children's hospitals (44%) (P = .007). CONCLUSION: Conjoined twins are rare anomalies who are susceptible to extremely high perinatal mortality, especially in female children, those who are premature, or those who have low birth weight. These data support caring for these complex patients at hospitals equipped to care for this fragile population.

Riboflavin inhibits IL-6 expression and p38 activation in islet cells.

Riboflavin is a water-soluble vitamin that reduces the production of proinflammatory mediators and oxygen radicals. Because islet beta-cells are very sensitive to oxidative stress and to cytokines, we investigated the possible cytoprotective effects of riboflavin on insulinoma NIT-1 cells and on isolated rodent islets. NIT-1 cells and islets cultured in the presence or absence of 10 microM riboflavin were studied at baseline and after exposure to cytokines (TNF-alpha, IL-1beta, INF-gamma). Riboflavin treatment did not affect islet cell viability as assessed by flow cytometry for caspases activation. However, riboflavin prevented the cytokine-induced increase in IL-6 mRNA expression and p38 phosphorylation analyzed by real-time PCR and immunoassay, respectively. In summary, nontoxic doses of riboflavin prevent cytokines-induced p38 phosphorylation and IL-6 upregulation in islet cells. This observation, together with the safety profile of riboflavin in the clinical setting, makes it an appealing agent for islet cytoprotection in islet transplantation protocols.