Normalization Time of Celiac Serology in Children on a Gluten-free Diet.

Objectives: Response to a gluten-free diet (GFD) in children with celiac disease is determined by symptom resolution and normalization of serology. We evaluated the rate of normalization of the transglutaminase (TTG) and antiendomysial (EMA) for children on a GFD after diagnosis.

Methods: Celiac serologies were obtained over 3.

Comparison of Presentation, Course, and Outcome of Congenital and Acquired Cytomegalovirus Infection in Twins.

Background Cytomegalovirus (CMV) is one of the most common causes of serious viral intrauterine infections. It is universally distributed among the human population with an average incidence of 0.15 to 2%.

CD84 is markedly up-regulated in Kawasaki disease arteriopathy.

The major goals of Kawasaki disease (KD) therapy are to reduce inflammation and prevent thrombosis in the coronary arteries (CA), but some children do not respond to currently available non-specific therapies. New treatments have been difficult to develop because the molecular pathogenesis is unknown. In order to identify dysregulated gene expression in KD CA, we performed high-throughput RNA sequencing on KD and control CA, validated potentially dysregulated genes by real-time reverse transcription-polymerase chain reaction (RT-PCR) and localized protein expression by immunohistochemistry.

Periostin is upregulated in coronary arteriopathy in Kawasaki disease and is a potential diagnostic biomarker.

Periostin was upregulated 11-fold in acute and chronic Kawasaki disease coronary arteries compared with controls (P = 0.003). Kawasaki disease patients had significantly elevated serum periostin values compared with febrile controls (P = 0.

Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada.

Background: Congenital heart defects (CHDs) are the most common type of congenital anomaly. The precise etiology is unknown and the development of successful primary prevention strategies is challenging. Folic acid may have a protective role; however published results have been inconsistent.

Subscapular tumoral calcinosis in a toddler: case report.

Tumoral calcinosis is uncommon in toddlers, and rare within the subscapular area. Although typically benign, tumoral calcinosis is often incorrectly diagnosed prior to biopsy. We present a case of subscapular tumoral calcinosis in a 16-month old girl and discuss the radiological findings on X-ray, ultrasound, computed tomography and magnetic resonance imaging, including the first description of T1-weighted post contrast imaging, which demonstrate the fibrotic components of tumoral calcinosis.

Congenital heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002.

Background: Although the majority of congenital heart defects (CHDs) occur in isolation, a significant number occur with noncardiac anomalies. This study determined the proportion of noncardiac anomalies among CHD cases in Alberta.

Methods: Records of infants and children born in Alberta between January 1, 1995, to December 31, 2002, were searched using multiple sources of ascertainment in addition to the Alberta Congenital Anomalies Surveillance System (ACASS) (Alberta Health and Wellness, 2012).

Histological chorioamnionitis and bronchopulmonary dysplasia: a retrospective cohort study.

Objective: To examine the association between histological chorioamnionitis (HC) with or without fetal inflammatory response (FIR) and bronchopulmonary dysplasia (BPD) in preterm infants.

Study Design: We conducted a retrospective cohort study of infants born at <29 weeks gestation admitted to the neonatal intensive care unit from 2000 to 2006, who had placental histology. We compared the incidence of BPD among three groups: No HC group, HC without FIR group and HC with FIR group.

Three linked vasculopathic processes characterize Kawasaki disease: a light and transmission electron microscopic study.

Background: Kawasaki disease is recognized as the most common cause of acquired heart disease in children in the developed world. Clinical, epidemiologic, and pathologic evidence supports an infectious agent, likely entering through the lung. Pathologic studies proposing an acute coronary arteritis followed by healing fail to account for the complex vasculopathy and clinical course.

Histological chorioamnionitis and neurodevelopmental outcome in preterm infants.

Objective: The objective of this study is to examine the neurodevelopmental outcome at 30 to 42 months corrected age of preterm infants with histological chorioamnionitis (HCA).

Study Design: The study design is a retrospective cohort study with a prospective follow-up. All surviving infants with birth gestational age <29 weeks, born between 2000 and 2006, who had a neurodevelopmental assessment at 30 to 42 months corrected age were included.

Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System.

Background: Congenital heart defects (CHDs) are the most common type of congenital anomaly, with a wide range of reported birth prevalence estimates. This quality assurance study describes CHD case ascertainment by the Alberta Congenital Anomalies Surveillance System (ACASS).

Methods: ACASS data for CHD cases were compared with additional sources including the two Pediatric Cardiology clinics in Alberta, the Alberta Children's Hospital Department of Pathology, and hospital records.

Alpers syndrome: the natural history of a case highlighting neuroimaging, neuropathology, and fat metabolism.

Mitochondrial diseases are increasingly being recognized as causes of encephalopathy and intractable epilepsy. There is no gold-standard test for diagnosing mitochondrial disease, and the current diagnosis relies on establishing a consistent pattern of evidence from clinical data, neuroimaging, tissue biopsy, and biochemical, genetic, and other investigations. Experience in the diagnosis and treatment of patients with certain forms of mitochondrial disease, such as Alpers syndrome, is largely gained from case reports or small case series.

Fetal opercular cavernous angioma causing cerebral cleft: contralateral primitive vascular anomaly and subicular dysgenesis.

We describe a 22-week female fetus after pregnancy was terminated because of fetal magnetic resonance imaging showing a large left cerebral hemispheric cleft suggestive of porencephaly or schizencephaly. Postmortem examination revealed a large cavernous angioma of the left opercular region with evidence of previous hemorrhage and extensive cerebral infarction. In the right hemisphere, another vascular malformation within the frontal germinal matrix consisted of an aggregate of primitive vessels not yet canalized.

Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.

Background: Familial hypocalciuric hypercalcemia (FHH) results from a mutation of the calcium sensing receptor (CASR) gene and typically presents as asymptomatic hypercalcemia with inappropriately low urinary calcium excretion and normal or mildly elevated levels of parathyroid hormone.

Objective: To describe a case of FHH associated with Kabuki syndrome and Crohn disease.

Method: Genomic DNA was screened for CASR mutations and a retrospective chart review was performed.

Synaptophysin immunoreactivity in the human hippocampus and neocortex from 6 to 41 weeks of gestation.

To assess the synaptic vesicle protein synaptophysin as a potential marker for maturation in the human fetal brain, synaptophysin immunoreactivity (sIR) was prospectively studied in postmortem sections of 162 normal human fetal and neonatal brains of both sexes from 6 to 41 weeks' gestational age. There was a consistent temporal and spatial pattern of sIR in the hippocampus and cerebral neocortex. In the rostral hippocampus, sIR was first apparent in the molecular zone of the dentate gyrus at 12 weeks, followed by CA2 at 14 weeks, CA3 and CA4 at 15 to 16 weeks, and CA1 at 19 weeks; it was incomplete until 26 weeks.

Motor neuron degeneration in a 20-week male fetus: spinal muscular atrophy type 0.

Background: Neuropathological changes in degenerating motor neurons are well documented in the term neonate with spinal muscular atrophy, but not at midgestation.

Methods: Postmortem neuropathological examination was performed in a 20-week male fetus with a hypoplastic left cardiac anomaly.

Results: Selective degeneration of spinal and hypoglossal motor neurons was an incidental finding.

Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy.

We report an extremely premature infant with Noonan syndrome who developed rapidly progressive obstructive hypertrophic cardiomyopathy, which contributed to the death of the infant. The complications of prematurity combined with progressive, severe hypertrophic cardiomyopathy associated with Noonan syndrome lead to a poor prognosis.

The pathology of rotavirus-associated deaths, using new molecular diagnostics.

Rotavirus, the most common cause of severe, dehydrating gastroenteritis among children worldwide, annually causes approximately 500,000 deaths among children aged <5 years. The primary site of rotavirus infection is the small intestine. Pathologic investigations of patients who died of rotavirus infection are limited to data from a few reported autopsies, and dehydration with electrolyte imbalance is believed to be the major cause of death.

Mucosal inflammation in a genetic model of spontaneous type I diabetes mellitus.

The BioBreeding (BB) rat provides a model of spontaneous type I diabetes mellitus that closely resembles the human disease. Diabetes-prone BB rats demonstrate increased intestinal permeability prior to the development of insulinitis. Studies suggest that alterations in intestinal permeability can lead to increased intestinal inflammatory activity.

Age-dependent changes in the regulation of cyclooxygenases in the gastrointestinal tract after gram-negative endotoxemia.

Background: Cyclooxygenases (COXs) modulate prostaglandin synthesis in the gastrointestinal tract. Prostaglandins have been shown to have a cytoprotective effect on bowel mucosa in adults, but no similar data are available in neonates. Thus, the purpose of the current study was to evaluate age-dependent changes in gastrointestinal tract COX regulation after Escherichia coli lipopolysaccharide exposure in rats.

Combination of renal agenesis with respiratory and alimentary tract atresia results in normal lung development.

The VACTERL complex comprises renal agenesis and atresias of the alimentary and respiratory tracts. We report on a case with this combination causing severe oligohydramnios but with normal lung development. The likely protective mechanism for pulmonary development was an increase in alveolar pressure and reduced alveolar fluid loss due to the esophageal-tracheal malformation.