Abstract:
:BackgroundSpecific HLA-DQ genes have been recognized as necessary - but not sufficient - factors for the occurrence of Celiac Disease (CD). Through a meta-analysis, evaluating the distribution of CD-related HLA genotypes in children, we aimed at providing insights for a potential widened screening strategy.MethodsAfter a systematic search on the association between class II HLA genes and CD in children, 46 publications were obtained and assessed for eligibility. A total of 13 eligible studies were submitted to data extraction and analysis (10 case-control studies and 3 cohort studies). Case-control studies collectively enrolled 740 CD patients and 943 controls.ResultsIn the population-stratified analysis, the following alleles conferred a significantly increased risk for CD: HLA-DQB1*02 (odds ratio [OR]=10.28) and HLA-DQB1*03:02 (OR=2.24). By drafting a risk gradient to develop CD according to HLA genetic background, the highest risk is confirmed to exist for DQ2/DQ2 homozygous subjects, regardless of the ethnicities (OR=5.4). Actually, the genotype DQ2/β2 showed basically the same risk (OR=5.3). Indeed, no differences have been found in CD risk between DQ2/β2 and DQ2/DQ2, as well as between DQ8/β2 and DQ2/DQ8, and between β2/DQX and DQ2/X.ConclusionThe HLA-DQB1*02:01 allele is present in more than 90% CD children. In the perspective of a widened pediatric population screening for CD, a double-step process might be suggested: HLA-DQB1*02:01 might be investigated first and, only if this result is positive, children might be candidate for a prospective serologic screening, as a second step.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
De Silvestri A,Capittini C,Poddighe D,Valsecchi C,Marseglia G,Tagliacarne SC,Scotti V,Rebuffi C,Pasi A,Martinetti M,Tinelli Cdoi
10.1038/pr.2017.307subject
Has Abstractpub_date
2018-03-01 00:00:00pages
564-572issue
3eissn
0031-3998issn
1530-0447pii
pr2017307journal_volume
83pub_type
杂志文章,meta分析abstract:BACKGROUND:Recent studies suggest that infantile hypertrophic pyloric stenosis (IHPS) and congenital heart defects (CHDs) may share some genetic risk factors, but little is known about the co-occurrence of the two conditions in patients. METHODS:Our study cohort included 2,212,756 persons born in Denmark 1977-2013. We...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0369-9
更新日期:2019-06-01 00:00:00
abstract::Thyrotropin releasing hormone (TRH) and its precursor peptide pGlu-His-Pro-Gly (TRH-Gly) were measured in serum and in a variety of tissues of developing rats using specific RIA. TRH and TRH-Gly immunoreactivities were detected in most tissues. TRH concentrations were highest in pancreas, in which mean (+/- SEM) TRH c...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199107000-00006
更新日期:1991-07-01 00:00:00
abstract::The effect of Cis-platin on the glomerular filtration rate and effective renal plasma flow was determined using a radioisotope clearance technique in young (3 wk old) and adult (more than 12 wk old) rats. Cis-platin was administered intravenously in dosages ranging from 2.5 to 10 mg/kg body weight, either as a single ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198601000-00003
更新日期:1986-01-01 00:00:00
abstract::Adverse perinatal events affecting cerebral functions are a major cause of neonatal mortality, morbidity, and long-term neurologic deficit. Intrapartum fetal EEG, which records fetal brain electrical activity, provides a monitoring modality for evaluating the fetal CNS during labor. In this study, we describe a new ap...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200009000-00013
更新日期:2000-09-01 00:00:00
abstract::In eight newborn lambs, the adaption of blood to acidosis was studied by sequential measurements of P50 in vitro (pH 7.4; 37 degrees C) and P50 in vivo (animal's pH and temperature, 39 degrees C) during the course of HCl-induced metabolic acidosis. The benefit of the change in both P50 on tissue oxygen tension was stu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1981-05-01 00:00:00
abstract::Twenty-two reported cases of neuroblastoma missed by the mass screening programs were reviewed (six cases in Sapporo City where a quantitative measurement for both vanillylmandelic acid (VMA) and homovanillic acid (HVA) is used and 16 cases in the districts of qualitative judgment only for VMA), and some potential fac...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198912000-00018
更新日期:1989-12-01 00:00:00
abstract::Metabolic studies on two patients with defects in the tyrosine oxidation pathway are reported. Serum tyrosine was greatly elevated in both patients (1.37 and 1.52 mmol/liter, respectively) and both excreted large quantities of p-hydroxyphenylacetic acid, p-hydroxyphenyllactic acid, and p-hydroxyphenylpyruvic acid. Deu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197705000-00002
更新日期:1977-05-01 00:00:00
abstract::Astrocyte end-feet ensheathe blood vessels in the brain and are believed to provide structural integrity to the cerebral vasculature. We sought to determine in developing infants whether the coverage of blood vessels by astrocyte end-feet is decreased in germinal matrix (GM) compared with cerebral cortex and white mat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000214975.85311.9c
更新日期:2006-05-01 00:00:00
abstract::Antenatal cocaine administration is associated with increases in catecholamines and glucocorticoids and results in fetal hypoxemia, with the speculated potential for increased free radical formation in the fetus. Because of this, we hypothesized that antenatal cocaine exposure would produce not only accelerated pulmon...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199304000-00004
更新日期:1993-04-01 00:00:00
abstract::The neuroprotective effect of hypothermia instituted after resuscitation from asphyxic cardiac arrest has not been studied in immature brain, particularly in a large animal model with recovery periods greater than 4 d. Moreover, protection from severe hypoxia seen with 3 h of hypothermia was reported to be lost when h...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000072783.22373.FF
更新日期:2003-08-01 00:00:00
abstract::Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants by comprehensive r...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180a03232
更新日期:2007-08-01 00:00:00
abstract::Progress has been made in the reduction of morbidity and mortality from neonatal sepsis. However, diagnosis continues to rely primarily on conventional microbiologic techniques, which can be inaccurate. The objective of this review is to provide the clinician with an overview of the current information available on di...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2017.134
更新日期:2017-10-01 00:00:00
abstract::The secreted protein sonic hedgehog (Shh) is essential for normal development of many organs. Targeted disruption of Shh in mouse leads to near complete absence of craniofacial skeletal elements at birth, and mutation of SHH in human causes holoprosencephaly (HPE), frequently associated with defects of derivatives of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000199911.17287.3e
更新日期:2006-03-01 00:00:00
abstract::There is increasing evidence that cortisol contributes to cardiovascular risk. It is unclear whether physiological concentrations of serum cortisol are related to vascular risk markers in children. The cross-sectional associations between morning serum cortisol and cardiovascular risk markers: blood pressure (BP) and ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181efc310
更新日期:2010-11-01 00:00:00
abstract::An alteration in head position, which effects cerebral blood flow, may increase the risk for intraventricular hemorrhage in the critically ill infant. The purpose of this study was to evaluate in vivo cerebral oxidative metabolism as an index of tissue oxygen delivery reflecting brain blood flow, in healthy preterm an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198709000-00013
更新日期:1987-09-01 00:00:00
abstract::Early-life stress has been shown to destabilize the homeostatic synaptic plasticity and compromise the developing brain to the later encountered insults. This study would determine the long-term epileptogenic effect of neonatal isolation (NI) on early-life seizure. There were five groups: normal rearing (NR) rats; NI ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181b337d2
更新日期:2009-10-01 00:00:00
abstract::Cerebral magnetic resonance imaging (MRI) has revealed white matter changes in patients with phenylketonuria (PKU), an inborn error of metabolism with increased plasma phenylalanine level. Because the significance of these lesions is unknown, this study was undertaken to determine whether glucose metabolism was depres...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199607000-00004
更新日期:1996-07-01 00:00:00
abstract::Responses of pial arterioles to topically applied arachidonic acid, conversion of exogenous arachidonic acid to prostanoids, and pial arteriolar dilation to hypercapnia were examined before and at progressive times after treatment with indomethacin (5 mg/kg i.v.) in chloralose-anesthetized newborn pigs with closed cra...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199306000-00016
更新日期:1993-06-01 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is an acute febrile illness associated with the development of vasculitis. Administration of intravenous immunoglobulin (IVIG) is the standard treatment for KD. However, IVIG treatment is not effective in approximately 15% of children with KD. Some reports have presented evidence of imm...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2015.12
更新日期:2015-04-01 00:00:00
abstract::This review article examines the National Institutes of Health's (NIH) overall budget and its pediatric research funding across three time periods: predoubling [fiscal year (FY) 1992-1997]; doubling (FY 1998-2003); and postdoubling (FY 2004-2009). The average annual NIH appropriations increased by 5.4%, 13.4%, and 1.3...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31818912fd
更新日期:2008-11-01 00:00:00
abstract::The incidence and prevalence of celiac disease vary internationally. We studied the incidence of identified cases of childhood celiac disease in six Dutch provinces that cover 47.9% of the surface area and 67.6% of the total population of The Netherlands. Children with celiac disease aged 0-14 y, diagnosed from Januar...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199502000-00015
更新日期:1995-02-01 00:00:00
abstract::To examine uridine diphosphate hexose (UDPhexose) content of cells that have more complete metabolic patterns than erythrocytes, which have been commonly used in the study of galactosemia, the concentrations of uridine diphosphate galactose (UDPgalactose) and uridine diphosphate glucose (UDPglucose) were determined in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199411000-00014
更新日期:1994-11-01 00:00:00
abstract::Stimulation of cutaneous thermoreceptors may be an important factor in the initiation of continuous breathing at birth. Maintenance of a patent airway is also important in the continuation of effective ventilation after birth, but whereas in the adult the principal pharyngeal dilator is the genioglossus muscle, in the...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198803000-00005
更新日期:1988-03-01 00:00:00
abstract::LBW infants are at risk of iron deficiency (ID), which is associated with impaired nervous system development and may lead to prolonged auditory brainstem response (ABR) latencies. We hypothesized that iron supplementation shortens ABR latencies in marginally LBW (MLBW, 2000-2500 g) infants. In a randomized, controlle...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/PDR.0b013e3182320cd0
更新日期:2011-12-01 00:00:00
abstract::During the transition at birth to air breathing, regulation of surfactant release from alveolar type II (ATII) cells is critical. Atrial natriuretic peptide (ANP) stimulates natriuretic peptide receptor-A (NPR-A) and increases intracellular cGMP. We examined the changes in ANP and NPR-A in respiratory epithelium durin...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318163a215
更新日期:2008-03-01 00:00:00
abstract:BACKGROUND:Intrauterine inflammation adversely affects cardiopulmonary, systemic, and cerebral hemodynamics in preterm neonates, but its impact on responses to endotracheal tube (ETT) suction, known to affect hemodynamics, is unknown. We hypothesized that intrauterine inflammation would alter the cardiopulmonary and ce...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.70
更新日期:2013-07-01 00:00:00
abstract::Ethylmalonic aciduria is a common biochemical finding in patients with inborn errors of short chain fatty acid beta-oxidation. The urinary excretion of ethylmalonic acid (EMA) may stem from decreased oxidation by short chain acyl-CoA dehydrogenase (SCAD) of butyryl-CoA, which is alternatively metabolized by propionyl-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199606000-00021
更新日期:1996-06-01 00:00:00
abstract:BACKGROUND:Sepsis is an important cause of neonatal morbidity and mortality worldwide. Diagnosis and treatment of neonatal sepsis relies on clinical judgment and interpretation of nonspecific laboratory tests. In a prospective cohort, we measured inflammatory cytokines as a potential biomarker for neonatal sepsis. MET...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.267
更新日期:2017-04-01 00:00:00
abstract:BACKGROUND:To investigate whether the YAP/TAZ (Yes-associated protein/transcriptional coactivator with PDZ binding motif) pathway contributes to the pathogenesis of lymphatic malformations (LMs). METHODS:YAP, TAZ, CTGF (connective tissue growth factor), and Ki-67 were detected in LMs by immunohistochemistry. The coloc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0863-0
更新日期:2020-04-12 00:00:00
abstract::Epidemiologic studies have linked intrauterine growth restriction (IUGR) with an increased incidence of cardiovascular disease later in life; reduced cardiomyocyte number in IUGR hearts may underlie such prenatal programming. Our aim was to examine the effect of IUGR, as a result of maternal protein restriction, on th...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000157726.65492.CD
更新日期:2005-06-01 00:00:00