The ventricular volume variability study of the Pediatric Heart Network: study design and impact of beat averaging and variable type on the reproducibility of echocardiographic measurements in children with chronic dilated cardiomyopathy.

Background: Clinical trials often rely on echocardiographic measures of left ventricular size and function as surrogate end points. However, the quantitative impact of factors that affect the reproducibility of these measures is unknown. To address this issue, the National Heart, Lung, and Blood Institute-funded Pediatric Heart Network designed a longitudinal observational study of children with known or suspected dilated cardiomyopathy aged 0 to 22 years from eight pediatric clinical centers.

A practical guide to the FLEXIQuant method.

A protein molecule exists as a heterogeneous population of posttranslationally modified forms, which are of potential interest to biologists. However, due to detection or methodology limitations, they remain uncharacterized. When a protein does become a prioritized interest in a laboratory, workflows aimed for its purification and characterization are implemented.

Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders.

The purpose of this study was to examine the relationship between language pathways and autism spectrum disorders (ASDs) in patients with tuberous sclerosis complex (TSC). An advanced diffusion-weighted magnetic resonance imaging (MRI) was performed on 42 patients with TSC and 42 age-matched controls. Using a validated automatic method, white matter language pathways were identified and microstructural characteristics were extracted, including fractional anisotropy (FA) and mean diffusivity (MD).

Craniofacial repair with fetal bone grafts engineered from amniotic mesenchymal stem cells.

Background: Ethically acceptable applications of fetal tissue engineering as a perinatal therapy can be expanded beyond life-threatening anomalies by amniotic fluid cell-based methods, in which cell procurement poses no additional risk to the mother. We sought to start to determine whether osseous grafts engineered from amniotic mesenchymal stem cells (aMSCs) could be an adjunct to craniofacial repair.

Methods: New Zealand rabbits (n = 12) underwent creation of a full-thickness diploic nasal bone defect.

Improving left ventricular outflow tract obstruction repair in common atrioventricular canal defects.

Background: Left ventricular outflow tract obstruction (LVOTO) is the second most frequent reason for reoperation after atrioventricular canal (AVC) defect repair. Limited data are available on the mechanisms of LVOTO, their treatment, and outcomes.

Methods: Between 1998 and 2010, 56 consecutive children with AVC underwent 68 LVOTO procedures.

Pulmonary embolism detected by pulmonary MDCT angiography in older children and young adults: risk factor assessment.

Objective: The purpose of this article is to determine the risk factors for pulmonary embolism (PE) among older children and young adults who underwent pulmonary CT angiography (CTA) for evaluation of clinically suspected PE.

Materials And Methods: We used our hospital information system to retrospectively identify all consecutive patients 19-25 years old who underwent pulmonary CTA for evaluation of clinically suspected PE between July 2004 and March 2011. Two experienced pediatric radiologists retrospectively and independently reviewed a series of 116 consecutive pulmonary CTA studies from this population.

Pediatric intestinal failure and vascular access.

Emerging developments in the care of intestinal failure (IF) patients have drastically improved their overall prognosis, with recently reported survival rates over 90%. IF patients remain an extremely complex population who benefit from specialized, multidisciplinary care. Advances in the provision of parenteral and enteral nutrition, progress in the management of IF-associated liver disease with parenteral fish oil and catheter-associated blood stream infection with ethanol lock therapy, and the availability of novel surgical interventions, such as the serial transverse enteroplasty procedure, have made this a dynamic health care field with the promise of ongoing improvements in outcomes for these patients.

Enhanced gap junction expression in myoblast-containing engineered tissue.

Transplantation of skeletal myoblasts (SMs) has been investigated as a potential cardiac cell therapy approach. SM are available autologously, predetermined for muscular differentiation and resistant to ischemia. Major hurdles for their clinical application are limitations in purity and yield during cell isolation as well as the absence of gap junction expression after differentiation into myotubes.

Body satisfaction, weight gain and binge eating among overweight adolescent girls.

Objective: To examine if body satisfaction is associated with body mass index (BMI) change and whether it protects against the development of frequent binge eating among overweight and obese adolescent girls.

Methods: We used prospective data from nine waves of an ongoing cohort study of adolescents, the Growing Up Today Study. At enrollment in 1996, participants were 9-14 years old.

Education and depression.

This article is intended to assist educators in the medical field in promoting competency among medical students and trainees on the key issues in child and adolescent depression, including approach, understanding, and management. Using clinical vignettes, up-to-date research, and expert opinion and referencing accessible guidelines, resources, and tools, the authors' goal is to create information that is engaging and useful. It is designed to reach a broad audience with emphasis on trainees who are early in their career path (eg, medical students or interns) and/or who are going into primary care.

Utility of plain radiographs in detecting traumatic injuries of the cervical spine in children.

Objective: The objective of this study was to estimate the sensitivity of plain radiographs in identifying bony or ligamentous cervical spine injury in children.

Methods: We identified a retrospective cohort of children younger than 16 years with blunt trauma-related bony or ligamentous cervical spine injury evaluated between 2000 and 2004 at 1 of 17 hospitals participating in the Pediatric Emergency Care Applied Research Network. We excluded children who had a single or undocumented number of radiographic views or one of the following injuries types: isolated spinal cord injury, spinal cord injury without radiographic abnormalities, or atlantoaxial rotary subluxation.

Mitral valve operations at a high-volume pediatric heart center: Evolving techniques and improved survival with mitral valve repair versus replacement.

Mitral valve disease is quite variable and can occur as an isolated defect or in association with other complex left sided lesions. These lesions are often best described with detailed pre-operative imaging studies to define the valve anatomy and to access associated left heart disease. Depending on the type of mitral valve disease, various surgical repair techniques have led to improved survival in the recent era.

Expression of EAAT2 in neurons and protoplasmic astrocytes during human cortical development.

The major regulators of synaptic glutamate in the cerebral cortex are the excitatory amino acid transporters 1-3 (EAAT1-3). In this study, we determined the cellular and temporal expression of EAAT1-3 in the developing human cerebral cortex. We applied single- and double-label immunocytochemistry to normative frontal or parietal (associative) cortex samples from 14 cases ranging in age from 23 gestational weeks to 2.

Short-term response of sleep-potentiated spiking to high-dose diazepam in electric status epilepticus during sleep.

We describe the short-term effects of high-dose oral diazepam on sleep-potentiated epileptiform activity in patients with electric status epilepticus during sleep. We enrolled patients treated with high-dose oral bedtime diazepam from 2001-2009. We defined spike percentage as the percentage of 1-second bins containing at least one spike, and calculated it during three randomly selected 5-minute samples of wakefulness throughout the day and during the first 5 minutes of every hour of non-rapid eye movement sleep at night.

PNGase F catalyzes de-N-glycosylation in a domestic microwave.

Common de-N-glycosylation protocols usually require a lengthy incubation time. Although pressure cycling technology or scientific microwave reactors can accelerate this enzyme reaction, they may not be easily accessible. In this brief report, we employed an alternative strategy using a standard domestic microwave oven to perform the de-N-glycosylation.

Evaluation of image quality and patient safety: paired inspiratory and expiratory MDCT assessment of tracheobronchomalacia in paediatric patients under general anaesthesia with breath-hold technique.

Objective: The purpose of our investigation was to evaluate image quality and patient safety in infants and young children who required general anaesthesia with breath-hold technique for paired inspiratory and expiratory multidetector CT (MDCT) assessment of tracheobronchomalacia (TBM).

Materials And Methods: Our hospital's institutional review board approved the review of radiological and clinical data of a consecutive series of 20 paediatric patients who underwent MDCT under general anaesthesia with breath-hold technique for evaluation of TBM from May 2006 to December 2008. For each MDCT study, two fellowship-trained paediatric radiologists reviewed the inspiratory and expiratory MDCT images in an independent, randomised and blinded fashion for the presence of motion artefact at three anatomic levels (upper, middle and lower central airways).

Mortality in hypoplastic left heart syndrome: review of 216 autopsy cases of aortic atresia with attention to coronary artery disease.

Objectives: Aortic atresia (AA) in hypoplastic left heart syndrome (HLHS) has been associated with increased mortality in several prior studies. We reviewed our autopsy series to explore the relationship of coronary abnormalities to anatomic subsets of HLHS with AA.

Methods: We retrospectively reviewed all pathology specimens with AA/MS (mitral stenosis) and AA/MA (mitral atresia) in the Cardiac Registry of Children's Hospital Boston between 1955 and 2009 including autopsy reports, operative notes, and imaging studies.

Inheritance of febrile seizures in sudden unexplained death in toddlers.

Sudden unexplained death in toddlers has been associated with febrile seizures, family history of febrile seizures, and hippocampal anomalies. We investigated the mode of inheritance for febrile seizures in these families. A three-generation pedigree was obtained from families enrolled in the San Diego Sudden Unexplained Death in Childhood Research Project, involving toddlers with sudden unexplained death, febrile seizures, and family history of febrile seizures.

FLEXIQinase, a mass spectrometry-based assay, to unveil multikinase mechanisms.

We introduce a mass spectrometry-based method that provides residue-resolved quantitative information about protein phosphorylation. In this assay we combined our full-length expressed stable isotope-labeled protein for quantification strategy (FLEXIQuant) with a traditional kinase assay to determine the mechanisms of multikinase substrate phosphorylation such as priming-dependent kinase activities. The assay monitors the decrease in signal intensity of the substrate peptides and the concomitant increase in the (n × 80 Da)-shifted phosphorylated peptide.

Refractive Development in the "ROP Rat".

Although retinopathy of prematurity (ROP) is clinically characterized by abnormal retinal vessels at the posterior pole of the eye, it is also commonly characterized by vascular abnormalities in the anterior segment, visual dysfunction which is based in retinal dysfunction, and, most commonly of all, arrested eye growth and high refractive error, particularly (and paradoxically) myopia. The oxygen-induced retinopathy rat model of ROP presents neurovascular outcomes similar to the human disease, although it is not yet known if the "ROP rat" also models the small-eyed myopia characteristic of ROP. In this study, magnetic resonance images (MRIs) of albino (Sprague-Dawley) and pigmented (Long-Evans) ROP rat eyes, and age- and strain-matched room-air-reared (RAR) controls, were examined.

Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.

Hereditary hemochomatosis (HH) is caused by mutations in several genes, including HFE and transferrin receptor-2 (TFR2). Loss of either protein decreases expression of the iron regulatory hormone hepcidin by the liver, leading to inappropriately high iron uptake from the diet, and resulting in systemic iron overload. In tissue culture, overexpressed HFE and TFR2 physically interact.

Neuron deficit in the white matter and subplate in periventricular leukomalacia.

Objective: The cellular basis of cognitive abnormalities in preterm infants with periventricular leukomalacia (PVL) is uncertain. One important possibility is that damage to white matter and subplate neurons that are critical to the formation of the cerebral cortex occurs in conjunction with oligodendrocyte and axonal injury in PVL. We tested the hypothesis that the overall density of neurons in the white matter and subplate region is significantly lower in PVL cases compared to non-PVL controls.

PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes.

PTEN hamartoma tumor syndrome (PHTS) presents in a spectrum that encompasses the eponymous disorders Cowden and Bannayan-Riley-Ruvalcaba. Herein, we delineate the distinctive histopathology of a predominantly intramuscular lesion in PHTS, often called "arteriovenous malformation," because of certain imaging and histopathologic features. Cases were identified by review of lesions resected from patients with PHTS registered at our Vascular Anomalies Center and of unusual intramuscular vascular anomalies in our pathology database from 1985 to 2008.

Muenke syndrome associated with multiple osteochondromas.

Muenke syndrome caused by the FGFR3 Pro250Arg mutation is associated with craniosynostosis, hearing loss, and various bony anomalies. Although this mutation is involved in bone growth and development, bony tumors are rare in this condition. We describe a patient with a molecular diagnosis of Muenke syndrome who also presented with multiple osteochondromas of the upper and lower extremities.