Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study.

Background: Cerebral arteriopathies, including an idiopathic focal cerebral arteriopathy of childhood (FCA), are common in children with arterial ischemic stroke and strongly predictive of recurrence. To better understand these lesions, we measured predictors of arteriopathy within a large international series of children with arterial ischemic stroke.

Methods And Results: Between January 2003 and July 2007, 30 centers within the International Pediatric Stroke Study enrolled 667 children (age, 29 days to 19 years) with arterial ischemic stroke and abstracted clinical and radiographic data.

Bypass pyeloplasty: description of a procedure and initial results.

Introduction And Objective: Dismembered pyeloplasty is the surgical technique of choice for open, laparoscopic and/or robot-assisted repair of ureteropelvic junction obstruction (UPJO). We describe a new technique, bypass pyeloplasty, ideally suited for the high inserting ureter, and present initial results.

Patients And Methods: A wide 1-2-cm side-to-side anastomosis is created between the dilated and elastic portion of the ureter just distal to the UPJO and the lower and dependent portion of the hydronephrotic renal pelvis.

Mutation analysis of B3GALTL in Peters Plus syndrome.

Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the beta1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition.

Nontuberculous mycobacterial infections.

Context: Nontuberculous mycobacteria include numerous acid-fast bacilli species, many of which have only recently been recognized as pathogenic. The diagnosis of mycobacterial disease is based on a combination of clinical features, microbiologic data, radiographic findings, and histopathologic studies.

Objective: To provide an overview of the clinical and pathologic aspects of nontuberculous mycobacteria infection, including diagnostic laboratory methods, classification, epidemiology, clinical presentation, and treatment.

Pediatric interhospital transport: diagnostic discordance and hospital mortality.

Objectives: Determine the rate of discordance between the reason for transport (determined by referring institution) and the final diagnosis (determined by accepting institution), identify factors associated with diagnostic discordance, and determine whether diagnostic discordance is associated with mortality and morbidity.

Design: Cross-sectional analysis of prospectively collected transport data using an existing multicenter database.

Setting: Interfacility transport of neonatal and pediatric patients referred to five tertiary centers during years 1998-2000.

Modified osteoplastic orbitozygomatic craniotomy in the pediatric population.

Object: Anterior and anterolateral skull base approaches offer the advantages of improved visualization and minimal brain retraction for lesions involving the orbital apex, parasellar regions, and anterior and middle fossa floors. These approaches are seldom used in the pediatric population due to the perceived increase in morbidity and surgical complexity. We report the application of the previously described modified osteoplastic orbitozygomatic (OZ) craniotomy to pediatric neurosurgical cases.

TAPPA: topological analysis of pathway phenotype association.

Extracting biological insight from microarray data is important but challenging. Here we describe TAPPA, a java-based tool, for identification of phenotype-associated genetic pathways utilizing the pathway topological measures. This is achieved by first calculating a Pathway Connectivity Index (PCI) for each pathway, followed by evaluating its correlation to the phenotypic variation.

Psychosocial outcomes for preschool children and families after surgery for complex congenital heart disease.

The purpose of the current study was to assess the psychosocial outcomes of preschool-aged survivors (ages 3-6 years) of hypoplastic left heart syndrome (HLHS; n=13) and transposition of the great arteries (TGA; n=13). Parents completed the following measures: Pediatric Quality of Life Inventory, Impact on the Family Scale, Parenting Stress Index, Parent Behavior Checklist, and Child Behavior Checklist. Quality of life scores did not differ from those of healthy controls.

Vascular tumors of infancy and childhood: beyond capillary hemangioma.

Vascular tumors of infancy and childhood represent a number of clinicopathologically distinct entities for which precise histopathological diagnosis is often essential in determining effective therapeutic approach. Unfortunately, pathologists and clinicians alike have traditionally tended to lump these tumors, in addition to small vessel vascular malformations, under overly generic terms like capillary hemangioma that do little, if anything, to guide proper clinical management. In the last decade this nosologic oversimplification has begun to wane as important new diagnostic tools and better understanding of etiology have evolved, facilitated by international recognition of the need for a multidisciplinary approach in dealing with these perplexing and often clinically devastating lesions.

Endothelium-derived microparticles induce endothelial dysfunction and acute lung injury.

Acute lung injury (ALI) carries a high mortality in critically ill patients. Recent reports correlate elevated concentrations of endothelium-derived microparticles (EMPs) with diseases of endothelial dysfunction. Many of these diseases have ALI sequelae.

Severe osteomyelitis caused by Myceliophthora thermophila after a pitchfork injury.

Background: Traumatic injuries occurring in agricultural settings are often associated with infections caused by unusual organisms. Such agents may be difficult to isolate, identify, and treat effectively.

Case Report: A 4-year-old boy developed an extensive infection of his knee and distal femur following a barnyard pitchfork injury.

Comprehensive quality control utilizing the prehybridization third-dye image leads to accurate gene expression measurements by cDNA microarrays.

Background: Gene expression profiling using microarrays has become an important genetic tool. Spotted arrays prepared in academic labs have the advantage of low cost and high design and content flexibility, but are often limited by their susceptibility to quality control (QC) issues. Previously, we have reported a novel 3-color microarray technology that enabled array fabrication QC.

Psychopharmacology: clinical implications of brain neurochemistry.

There is an increasing prescription of psychotropic medications to youth. This use is accompanied by a developing, but lagging, evidence base for this use. These agents predominantly interact with regulatory neurotransmitters, which have known functions in the developing embryo.

Evaluation of gross hematuria.

Gross hematuria in children is a common complaint that often leads patients to seek urgent care. The diagnostic evaluation can be chosen based on specific patient history and physical examination. When a patient is asymptomatic, hypercalciuria and mild forms of glomerulonephritis are common causes of gross hematuria.

Genitourinary imaging techniques.

In the current era of pediatric uroradiology, use of nuclear medicine, ultrasonography, CT, and MRI has been valuable in the identification and management of genitourinary diseases. Excellent information about the renal parenchyma and renal function is currently attainable with current cross-sectional imaging techniques that can identify tissue differentiation of lesions, distinguish dilatation of the pelvocalyceal system, and determine margins of the kidney and perirenal space. Invasive angiography is limited in application specifically to vascular diseases, although they are uncommon in childhood.

Cross-informant agreement between adolescents with myelomeningocele and their parents.

The development of self-management skills by adolescents with myelomeningocele is an ongoing process. Previous studies lack consensus about what data can be accurately obtained from adolescents. This cross-sectional study using a convenience sample of 66 adolescent-parent dyads evaluated whether adolescents with myelomeningocele and their parents are interchangeable reporters of data.

Mean airway pressure and response to inhaled nitric oxide in neonatal and pediatric patients.

Inhaled nitric oxide (iNO) can improve oxygenation and ventilation-perfusion (V/Q) matching by reduction of shunt (Qs/Qt) in patients with hypoxemic lung disease. Because the improvement in V/Q matching must occur by redistribution of pulmonary blood flow, and because high airway pressure (Paw) increases physiologic dead space (Vd/Vt), we hypothesized that high Paw may limit the improvement in V/Q matching during iNO treatment. iNO 0-50 ppm was administered during mechanical ventilation.

Prenatal diagnosis of fetal arrhythmias.

Life-threatening fetal arrhythmias are rare and warrant sophisticated specialty prenatal care, often provided by maternal-fetal medicine obstetricians, and pediatric and adult cardiologists. This medical field is in quick transition, and new methods of diagnosis and treatment of the fetus with arrhythmias are emerging. In this article, the mechanisms of arrhythmias are presented in light of recent progress in the new field of fetal electrophysiology.

Comparison of apoptosis and mortality measurements in peripheral blood mononuclear cells (PBMCs) using multiple methods.

Death through apoptosis is the main process by which aged cells that have lost their function are eliminated. Apoptotic cells are usually detected microscopically by changes in their morphology. However, determination of early apoptotic events is important for in vitro (and ex vivo) studies.

Evaluation and management of genital anomalies in two patients with Klinefelter syndrome and review of literature.

Objectives: To present the evaluation and management of cryptorchidism and varicocele in patients with Klinefelter syndrome and review the literature. Recent advances in reproductive medicine have resulted in fertility in patients with Klinefelter syndrome. However, cryptorchidism and varicocele can affect the fertility potential on their own.

Does disadvantage start at home? Racial and ethnic disparities in health-related early childhood home routines and safety practices.

Background: Little is known about whether racial/ethnic differences exist in household family activities, safety practices, and educational opportunities known to impact young children's healthy development and school success.

Objective: To examine whether racial/ethnic disparities exist in early childhood home routines, safety measures, and educational practices/resources.

Methods: The 2000 National Survey of Early Childhood Health is a telephone survey of a nationwide sample of parents of 2608 children aged 4 to 35 months.

Immobilized probe and glass surface chemistry as variables in microarray fabrication.

Background: Global gene expression studies with microarrays can offer biological insights never before possible. However, the technology possesses many sources of technical variability that are an obstacle to obtaining high quality data sets. Since spotted microarrays offer design/content flexibility and potential cost savings over commercial systems, we have developed prehybridization quality control strategies for spotted cDNA and oligonucleotide arrays.

A comparison between SNaPshot, pyrosequencing, and biplex invader SNP genotyping methods: accuracy, cost, and throughput.

Three methods of Single Nucleotide Polymorphism (SNP) detection: SNaPshot, Pyrosequencing and Biplex Invader, with two different chemistries were investigated to compare, (1) accuracy, (2) ease of use, (3) throughput capability, and (4) cost. We genotyped 192 human DNA samples across 24 SNPs (minor allele frequencies above 30%), of which seven SNPs were genotyped with all three methods. We show that the Biplex Invader genotyping method was found to be the most accurate and easiest to use with lowest cost, although Pyrosequencing provided similar results at a low cost.