RESUMO
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. METHODS: The PedsQL was administered to 159 children with newly diagnosed CD and their parents at either the time of diagnostic esophagogastroduodenoscopy or before their initial dietitian appointment for gluten-free diet teaching. Mean parent-report and self-report PedsQL summary and subscale scores were calculated, then compared to published means from a sample of healthy children and a sample of children with nonceliac GI symptoms using 1-sample t tests. RESULTS: Compared to the healthy children, those with newly diagnosed CD had lower Total Scores, Physical Health, Psychosocial Health, Emotional Functioning, and School Functioning on parent report (Pâ<â0.008) with similar findings on self-report. Within the CD sample, clinically significant scores were found in 55.9% for School Functioning, 62.7% for Physical Health, 54.4% for Emotional Functioning, 43.7% for Social Functioning, and 49% for Total Score. CONCLUSIONS: Children and adolescents with newly diagnosed CD had lower HRQOL than healthy children and similar HRQOL to that of patients with nonceliac GI conditions. Patients with deficits in domains such as school or emotional functioning may benefit from early interventions including a Section 504 plan or meeting with a psychologist or social worker.
Assuntos
Doença Celíaca/psicologia , Qualidade de Vida , Inquéritos e Questionários/normas , Estudos de Casos e Controles , Doença Celíaca/fisiopatologia , Criança , Feminino , Humanos , Masculino , PaisRESUMO
On the basis of strong evidence, gastrointestinal symptoms and failure to thrive are classic presentations of celiac disease, but atypical, nongastrointestinal symptoms are also extremely common, particularly in the older child and adolescent. (3)(4)(8). On the basis of some research evidence and consensus, guidelines recommend celiac testing in symptomatic children with typical and atypical symptoms and consideration of testing in those with associated conditions and first-degree relatives of those with celiac disease. (3)(9). On the basis of strong research evidence, measurement of tTG IgA and total serum IgA level has been reported to be the most cost-effective and accurate means of serologic testing for celiac disease and is the test of choice unless the child is younger than 2 years or IgA deficient. (9). On the basis of strong research evidence, children with elevated titers of celiac antibodies or strong clinical suspicion for celiac disease should be referred to a gastroenterologist for upper endoscopy and biopsy. Until this procedure is performed, the child should continue on a diet with ingestion of gluten. (3)(9). On the basis of strong research evidence, all those with a confirmed diagnosis of celiac disease should follow a strict gluten-free diet for life, with avoidance of all foods that contain wheat, barley, and rye ingredients. (3)(4). Referral to a health care professional with specialized knowledge of celiac disease and the gluten-free diet is critical because of the numerous ways, often hidden, in which gluten may be present in the diet and environment.
Assuntos
Doença Celíaca/diagnóstico , Anticorpos/análise , Biópsia , Doença Celíaca/dietoterapia , Criança , Dieta Livre de Glúten , Endoscopia Gastrointestinal , Humanos , Intestinos/patologiaRESUMO
The Na+/H+ exchanger regulatory factor (NHE-RF; also known as ezrin-radixin-moesin binding protein 50) is a primary response gene under estrogen receptor (ER) control that may provide a link between estrogen action and the regulation of cytoskeletal and cell-signaling pathways. These studies were undertaken to define the human NHE-RF genomic regions and regulatory sequences mediating its robust estrogen responsiveness. Screening of a human genomic library yielded NHE-RF clones comprising the full gene, including the 5'-regulatory region and first exon, which were found to contain a large number (13) of consensus half-estrogen response elements (EREs), but to lack palindromic full EREs. Transfection-transactivation assays with wild-type and mutant ERs and reporter gene constructs linked to progressive deletions, or containing mutations, of the 5'-flanking region including a portion of exon I, and electrophoretic mobility and competitive gel shift assays were performed. These demonstrated direct ER interaction with the multiple half-ERE sites and the importance of the one proximal half-ERE and the multiple upstream half-EREs for eliciting the robust transcription activation of the NHE-RF gene by the estrogen-ER complex. Our findings highlight a paradigm for gene regulation via numerous half-ERE sites that expands the range of modes by which DNA recognition sites mediate the actions of this nuclear receptor.