Clinical presentation and factors associated with gluten exposure in children with celiac disease.

Objectives: The prevalence of celiac disease (CeD) is increasing, yet it is still underdiagnosed, in part because of its heterogeneous presentation. Diagnostic criteria are evolving and management with strict adherence to a gluten-free diet is challenging for many. We aimed to characterize the clinical presentation of CeD among a large multicenter cohort of pediatric patients and to identify factors associated with gluten-free diet adherence.

Food insecurity screening practices in a pediatric gastroenterology population.

Food insecurity is a rising concern for US households and leads to adverse child health outcomes. Pediatric gastroenterology providers are uniquely equipped to help guide families experiencing this challenge given their specialized training in nutritional support and dietary therapy for disease management. Hence, this study aimed to evaluate food insecurity screening practices from the perspectives of patient caregivers and healthcare providers in a tertiary pediatric gastroenterology practice.

One-Year Outcomes Among Children Identified With Celiac Disease Through a Mass Screening Program.

Background & Aims: Celiac disease (CD) mass screening remains controversial in part because of a paucity of data to support its benefit. The Autoimmunity Screening for Kids study is a mass screening study for pediatric CD and type 1 diabetes in Colorado.

Methods: This study prospectively follows up children ages 1 to 17 years who screened positive for tissue transglutaminase IgA autoantibodies in the Autoimmunity Screening for Kids study subsequently referred for diagnostic evaluation.

The Spectrum of Duodenal Histologic Findings in Patients With Trisomy 21: A Multicenter Study.

Objectives: Patients with Trisomy 21 (T21) commonly have gastrointestinal symptoms and diseases that prompt evaluation with esophagogastroduodenoscopy (EGD). Our objective is to characterize duodenal histological abnormalities in these patients when undergoing EGD. A secondary aim is to explore associations of histologic findings with different therapies.

Anxiety and Depression in Pediatric Patients with Celiac Disease: A Large Cross-Sectional Study.

Mental health is a growing concern in pediatric celiac disease (CD). This study utilized the Revised Children's Anxiety and Depression Scale (RCADS) to investigate anxiety and depression symptom rates. Participants were children ages 8 to 17 years (M = 11.

Family ties: the impact of celiac disease on children and caregivers.

Purpose: To evaluate the impact of celiac disease (CD) and the gluten-free diet (GFD) on the health-related quality of life (HRQoL) in children with CD in the United States using validated measures. We hypothesize that CD negatively impacts the child and caregivers' HRQoL.

Methods: Participants included children with a confirmed diagnosis of CD and their caregivers (n = 246) seen in a CD multidisciplinary clinic.

A Celiac Care Index Improves Care of Pediatric Patients Newly Diagnosed with Celiac Disease.

Objectives: To describe quality improvement efforts to reduce variability in the care of children diagnosed with celiac disease through use of an institutional patient registry and a chronic care index.

Study Design: An institutional patient registry tracked rates of follow-up visits and repeat serologic testing. A Celiac Care Index that included anthropometrics, biopsy expectations, dietician consultation, and baseline laboratory evaluation was developed to standardize evaluation at diagnosis.

Health-related Quality of Life in Newly Diagnosed Pediatric Patients With Celiac Disease.

Objectives: Celiac disease (CD) is a common chronic condition with potential adverse physical and psychosocial implications for affected children. The study purpose was to characterize health-related quality of life (HRQOL) in a large sample of pediatric patients with newly diagnosed CD using the PedsQL 4.0 Generic Core Scales, and compare it to that of healthy children and children with nonceliac gastrointestinal (GI) conditions using historic data.

Effects of a pharmacist-driven intervention program on hospital readmissions.

Purpose: Results of a study to determine whether routine use of a multifaceted medication-focused intervention at a safety-net hospital was feasible and could reduce hospital readmissions in a Medicare fee-for-service population are reported.

Methods: A quality-improvement cohort study of 1,059 admissions of 667 patients at an inner-city hospital was conducted. Patients in the intervention groups received some or all components of the multifaceted "Medication REACH" intervention, with direct pharmacist involvement from admission through postdischarge aftercare.

Complications of voiding cystourethrography in the evaluation of infants with prenatally detected hydronephrosis.

Purpose: We determined complications in infants undergoing voiding cystourethrography as part of the evaluation for prenatally detected hydronephrosis.

Materials And Methods: We retrospectively reviewed the records of infants referred to our institution for the evaluation of prenatal hydronephrosis from 1992 to 1997. Infants with a prenatal history of bilateral hydronephrosis, bladder distention and oligohydramnios, oligohydramnios only or a prenatal abnormality involving any other organ system were excluded from study.

Transforming growth factor-beta 1 in reproduction and development.

Expression patterns of TGF-beta s during embryogenesis and in adult reproductive organs, as well as the activities of these molecules in in vitro assays of biological processes relating to reproduction and development, have suggested that TGF-beta s may play a role in both reproductive function and embryonic development. To investigate the function of TGF-beta 1 in vivo, the murine TGF-beta 1 gene was disrupted by gene targeting, and animals that lacked TGF-beta 1 activity were generated. Homozygous mutant animals were obtained which exhibited a multifocal inflammatory disease.

Embryonic stem cell model systems for vascular morphogenesis and cardiac disorders.

To better understand the formation of the cardiovascular system and its disease states, models amenable to manipulation must be developed. In this article we present two models. One is a small animal model for an inflammatory disorder that can lead to heart failure.

Targeted disruption of the mouse transforming growth factor-beta 1 gene results in multifocal inflammatory disease.

Transforming growth factor-beta 1 (TGF-beta 1) is a multifunctional growth factor that has profound regulatory effects on many developmental and physiological processes. Disruption of the TGF-beta 1 gene by homologous recombination in murine embryonic stem cells enables mice to be generated that carry the disrupted allele. Animals homozygous for the mutated TGF-beta 1 allele show no gross developmental abnormalities, but about 20 days after birth they succumb to a wasting syndrome accompanied by a multifocal, mixed inflammatory cell response and tissue necrosis, leading to organ failure and death.

Discordant segregation of Na+,K(+)-adenosine triphosphatase alleles and essential hypertension.

Objectives: To determine whether the alpha 2 and or beta 1 isoforms of the Na+,K(+)-adenosine triphosphatase (Na+,K(+)-ATPase) are involved in the pathogenesis of essential hypertension.

Design: Segregation analysis of polymorphic DNA markers was used to test the involvement of Na+,K(+)-ATPase in essential hypertension.

Participants: Children with persistent hypertension having one parent with essential hypertension were included in the study.

The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism.

We have determined the sequence of the 5'-flanking region and first three exons of the human Na,K-ATPase alpha 1 gene, ATP1A1. Primer extension and S1 nuclease protection analyses of RNA from human kidney, brain, and skeletal muscle indicate that transcription initiates 273 nucleotides upstream of the translation start site. The promoter region contains a potential TATA box at position -27 relative to the transcription initiation site; however, no CCAAT sequence is observed.

Molecular genetics of Na,K-ATPase.

Researchers in the past few years have successfully used molecular-genetic approaches to determine the primary structures of several P-type ATPases. The amino-acid sequences of distinct members of this class of ion-transport ATPases (Na,K-, H,K-, and Ca-ATPases) have been deduced by cDNA cloning and sequencing. The Na,K-ATPase belongs to a multiple gene family, the principal diversity apparently resulting from distinct catalytic alpha isoforms.

Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms.

We have determined the structure of the gene that encodes the alpha 2 isoform of the human Na,K-ATPase. The gene contains 23 exons and spans approximately 25 kilobases. The amino acid sequence of the human alpha 2 isoform deduced from the genomic sequence exhibits 99% identity to the rat alpha 2 isoform.

Characterization of two genes for the human Na,K-ATPase beta subunit.

A total of 29 human genomic DNA clones that hybridize with cDNAs for the sheep and rat Na,K-ATPase beta subunits have been isolated, classified by restriction endonuclease mapping and Southern blot hybridization analysis, and sequenced. One class of clones, designated ATP1BL1, represents a processed pseudogene for the beta subunit. The second class, designated ATP1B, includes 15 overlapping genomic clones and represents a functional gene for the human Na,K-ATPase beta subunit.

Comparative molecular genetic analysis of lymphomas from six inbred mouse strains.

Previous studies of 21 highly lymphomatous AKXD recombinant inbred mouse strains demonstrated correlations between lymphoma type, the somatic proviral DNA content of the lymphoma, and the frequency of virally induced rearrangements in eight common sites of viral integration (Myc, Pim-i, Pvt-1, Mlvi-1, Mlvi-2, Fis-1, Myb, and Evi-1). In this study we analyzed lymphomas from six inbred mouse strains, AKR/J, C58/J, HRS/J (hr/hr and hr/+), SJL/J, SEA/GnJ, and CWD/LeAgl, to determine whether these correlations are also evident in these strains. Mice of the AKR/J, C58/J, and HRS/J strains died exclusively of T-cell lymphomas.