Surgical repair of truncal valve regurgitation.

Objectives: Truncal valve regurgitation remains a short- and long-term risk factor for patients with truncus arteriosus. There are limited data available on techniques and outcomes of truncal valve repair (TVR). The aim of this study was to report our experience with TVR in patients of all ages.

Aseptic meningitis.

This chapter describes the clinical presentation, diagnosis, and treatment of patients with both aseptic meningitis and encephalitis. It also addresses the major causes of aseptic meningitis. Although bacterial meningitis is quite rare in an era of widespread conjugate vaccines, diagnosis often depends on the results of bacterial cultures which may take several days.

Translocations in normal B cells and cancers: insights from new technical approaches.

Chromosomal translocations are recurrent genetic events that define many types of cancers. Since their first description several decades ago as defining elements in cancer cells, our understanding of the mechanisms that determine their formation as well as their implications for cancer progression and therapy has remarkably progressed. Chromosomal translocations originate from double-strand breaks (DSBs) that are brought into proximity in the nuclear space and joined inappropriately by DNA-repair pathways.

Biventricular conversion after single-ventricle palliation in unbalanced atrioventricular canal defects.

Background: Management of unbalanced common atrioventricular canal (UCAVC) defect by a single-ventricle (SV) approach frequently results in poor outcomes, especially in trisomy 21 patients. In this report we describe our results with conversion to biventricular circulation in UCAVC patients with SV palliation.

Methods: Retrospective review of patients with UCAVC undergoing biventricular conversion from prior SV palliation between 2003 and 2011 was conducted.

Monozygotic twins with trisomy 21 and partial agenesis of the corpus callosum.

Trisomy 21 is the most common viable trisomy. Although it is invariably associated with mild to severe developmental delay and intellectual disability, no gross central nervous system malformation has been consistently identified in individuals with trisomy 21. We present the case of a monozygotic twin pregnancy in which both fetuses were identified as having trisomy 21 and partial agenesis of the corpus callosum.

Analysis of endoscopic pancreatic function test (ePFT)-collected pancreatic fluid proteins precipitated via ultracentrifugation.

Context: We have shown previously that trichloroacetic acid precipitation is an effective method of protein extraction from pancreatic fluid for downstream biomarker discovery, compared to other common extraction methods tested.

Objective: We aim to assess the utility of ultracentrifugation as an alternative method of protein extraction from pancreatic fluid.

Design: Proteins extracted from trichloroacetic acid- and ultracentrifugation-precipitated pancreatic fluid were identified using mass spectrometry techniques (in-gel tryptic digestion followed by liquid chromatography-tandem mass spectrometry; GeLC-MS/MS).

Cross-species analysis of nicotine-induced proteomic alterations in pancreatic cells.

Toxic compounds in tobacco, such as nicotine, may adversely affect pancreatic function. We aim to determine nicotine-induced protein alterations in pancreatic cells, thereby revealing links between nicotine exposure and pancreatic disease. We compared the proteomic alterations induced by nicotine treatment in cultured pancreatic cells (mouse, rat, and human stellate cells and human duct cells) using MS-based techniques, specifically SDS-PAGE (gel) coupled with LC-MS/MS and spectral counting.

Space-time adaptive processing for improved estimation of preictal seizure activity.

Detection of precursory, seizure-related activity in electroencephalograms (EEG) is a clinically important and difficult problem in the field of epilepsy. Seizure detection methods often aim to identify specific features and correlations between preictal EEG signals that differentiate them from interictal/nonictal signals. Typically, these methods use information from nonictal EEGs to establish detection thresholds, and do not otherwise incorporate their characteristics into the detection.

Signal subspace integration for improved seizure localization.

A subspace signal processing approach is proposed for improved scalp EEG-based localization of broad-focus epileptic seizures, and estimation of the directions of source arrivals (DOA). Ictal scalp EEGs from adult and pediatric patients with broad-focus seizures were first decomposed into dominant signal modes, and signal and noise subspaces at each modal frequency, to improve the signal-to-noise ratio while preserving the original data correlation structure. Transformed (focused) modal signals were then resynthesized into wideband signals from which the number of sources and DOA were estimated.

Utility of salivagram in pulmonary aspiration in pediatric patients: comparison of salivagram and chest radiography.

Objective: The purpose of our study was to correlate the results of the radionuclide salivagram with the corresponding chest radiography findings on patients being evaluated for salivary aspiration to determine the utility of the salivagram.

Materials And Methods: We identified 222 patients younger than 21 years who underwent salivagram and chest radiography within 3 months of each other. Salivagrams were blindly interpreted by two readers and chest radiographs were blindly interpreted by two other readers.

Embolization of a bleeding Dieulafoy lesion of the duodenum in a child. Case report and review of the literature.

We report an adolescent with chronic, recurrent upper gastrointestinal bleeding in whom extensive prior investigations failed to reveal the source of bleeding. Angiography accurately identified a bleeding Dieulafoy lesion of the duodenum which was successfully embolized. The clinical history, angiographic appearances and treatment of this rare lesion are presented.

Cooperative group trials in pediatric oncology: the surgeon's role.

The early history of the pediatric cooperative group trials is reviewed, and the surgeons who played a critical role in their formation are discussed. The vital information provided from the tumor specimens submitted as part of the protocols is presented, as well as how this information advanced our management of infants and children treated on current protocols of the Children's Oncology Group. Finally, a survey of the surgeons currently active in the clinical trials defined the "critical lessons" learned from the sequence of protocols by the cooperative groups which have advanced our surgical treatment of patients today.

Short Gel, Long Gradient Liquid Chromatography Tandem Mass Spectrometry to Discover Urinary Biomarkers of Chronic Pancreatitis.

Background: Chronic pancreatitis (CP) is currently diagnosed using invasive endoscopic as well as radiation and non-radiation-based imaging techniques. However, urine can be safely and non-invasively collected and as such may offer a superior alternative to current techniques of CP diagnosis. We use mass spectrometry-based methods to discover proteins which are exclusive to or differentially abundant in urine of chronic pancreatitis patients.

Image quality of thoracic 64-MDCT angiography: imaging of infants and young children with or without general anesthesia.

Objective: The purpose of this study was to compare the image quality of thoracic CT angiography (CTA) studies performed with two techniques--with general anesthesia and without general anesthesia--for infants and for children younger than 5 years.

Materials And Methods: All consecutively registered infants and young children (age, ≤ 5 years) who underwent contrast-enhanced thoracic CTA from November 2005 to October 2010 were categorized into two groups: general anesthesia and awake (i.e.

Human fetal sacrococcygeal extension or 'tail' in the second trimester: prenatal diagnosis, associated findings, and clinical outcome.

Background: There are over 30 cases of prenatally diagnosed sacral extensions or human 'tails' in the literature, including isolated and syndromic etiologies. Most cases were reported to resolve by the second trimester and postnatal course was benign. Our objective was to describe the prenatal findings, associated anomalies, and clinical outcome of a series of seven fetuses diagnosed prenatally with fetal sacrococcygeal extension.

Mass Spectrometry-Based (GeLC-MS/MS) Comparative Proteomic Analysis of Endoscopically (ePFT) Collected Pancreatic and Gastroduodenal Fluids.

Objectives: The secretin-stimulated endoscopic pancreatic function test (ePFT) allows for the safe collection of gastroduodenal and pancreatic fluid from the duodenum. We test the hypothesis that these endoscopically collected fluids have different proteomes. As such, we aim to show that the ePFT method can be used to collect fluid enriched in pancreatic proteins to test for pancreatic function.

Platelets in the neonatal period: developmental differences in platelet production, function, and hemostasis and the potential impact of therapies.

Thrombocytopenia is a common problem among sick neonates admitted to the neonatal intensive care unit. Frequently, platelet transfusions are given to thrombocytopenic infants in an attempt to decrease the incidence or severity of hemorrhage, which is often intracranial. Whereas there is very limited evidence to guide platelet transfusion practices in this population, preterm infants in the first week of life (the highest risk period for bleeding) are nearly universally transfused at higher platelet counts than older infants or children.

Longitudinal associations between binge eating and overeating and adverse outcomes among adolescents and young adults: does loss of control matter?

Objective: To investigate the association between overeating (without loss of control) and binge eating (overeating with loss of control) and adverse outcomes.

Design: Prospective cohort study.

Setting: Adolescents and young adults living throughout the United States.

An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine β-thalassemia intermedia.

Mutations in HFE lead to hereditary hemochromatosis (HH) because of inappropriately high iron uptake from the diet resulting from decreased hepatic expression of the iron-regulatory hormone hepcidin. -thalassemia is a congenital anemia caused by partial or complete loss of -globin synthesis causing ineffective erythropoiesis, anemia, decreased hepcidin production, and secondary iron overload. Tmprss6 is postulated to regulate hepcidin production by cleaving Hemojuvelin (Hjv), a key modulator of hepcidin expression, from the hepatocyte surface.

Congenital diaphragmatic hernia associated with esophageal atresia: incidence, outcomes, and determinants of mortality.

Background: Congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) are fairly common congenital anomalies, but the occurrence of both is exceedingly rare, with only anecdotal cases reported in the English literature. The primary objective of the current study is to assess the incidence and outcomes of CDH/EA using the Congenital Diaphragmatic Hernia Study Group registry.

Study Design: The Congenital Diaphragmatic Hernia Study Group registry was queried from January 2000 through August 2011.

The transcriptional landscape of hematopoietic stem cell ontogeny.

Transcriptome analysis of adult hematopoietic stem cells (HSCs) and their progeny has revealed mechanisms of blood differentiation and leukemogenesis, but a similar analysis of HSC development is lacking. Here, we acquired the transcriptomes of developing HSCs purified from >2,500 murine embryos and adult mice. We found that embryonic hematopoietic elements clustered into three distinct transcriptional states characteristic of the definitive yolk sac, HSCs undergoing specification, and definitive HSCs.

Risk factors associated with death in in-hospital pediatric convulsive status epilepticus.

Objective: To evaluate in-patient mortality and predictors of death associated with convulsive status epilepticus (SE) in a large, multi-center, pediatric cohort.

Patients And Methods: We identified our cohort from the KID Inpatient Database for the years 1997, 2000, 2003 and 2006. We queried the database for convulsive SE, associated diagnoses, and for inpatient death.

Operative blunt duodenal injury in children: a multi-institutional review.

Background/aim: Operative blunt duodenal injury in children is rare. The purpose of this analysis is to describe the clinical presentation, current management, and outcome of children with operative blunt duodenal injury.

Methods: The American Pediatric Surgical Association Trauma Committee solicited data from its members on children with blunt intestinal injuries identified at autopsy or operation from January 2002 through August 2006.