Abstract:
BACKGROUND:The aim was to identify susceptibility alleles for infantile hypertrophic pyloric stenosis (IHPS) in a pedigree previously linked to IHPS5 on chromosome 16q24. METHODS:We screened the positional and functional candidate gene FOXF1 by Sanger sequencing in a single affected individual. All family members for whom DNA was available were genotyped to determine cosegregation status of the putative causal variant. Immunofluorescence studies were performed to compare the cellular localization of wildtype and mutant form of the protein. Transcriptional activity was compared using a luciferase assay. RESULTS:A single novel substitution in FOXF1 (c.416G>A) predicted to result in a missense mutation (R139Q) was shown to cosegregate with disease trait. It was not seen in 560 control chromosomes nor has it been reported in ExAC or ESP. The R139Q substitution affects a conserved arginine residue within the DNA-binding domain of FOXF1. The transcriptional activity of the mutant FOXF1 protein is significantly reduced in comparison to wild-type. CONCLUSION:These results provide strong evidence that the R139Q substitution in FOXF1 causes IHPS in this family and imply a novel pathological pathway for the condition. They further support a role for FOXF1 in the regulation of embryonic and neonatal development of the gastro-intestinal tract.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Everett KV,Ataliotis P,Chioza BA,Shaw-Smith C,Chung EMKdoi
10.1038/pr.2016.244subject
Has Abstractpub_date
2017-04-01 00:00:00pages
632-638issue
4eissn
0031-3998issn
1530-0447pii
pr2016244journal_volume
81pub_type
杂志文章abstract::Lipase activities were measured at pH 4 and pH 8 in the placentas of rats made diabetic by streptozotocin treatment and also in the placentas of women classified as having 1) impaired glucose tolerance or type 2 diabetes, 2) type 1 diabetes with no associated vascular complication, and 3) type 1 diabetes with associat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199112000-00009
更新日期:1991-12-01 00:00:00
abstract::An infant with the acute neonatal form of pyruvate carboxylase deficiency (cross-reacting material negative) presented with severe intractable lactic acidosis within 4 h after birth. He also had hyperammonemia, hypercitrullinemia, and hyperlysinemia. Plasma glutamine was not elevated. He had a rapidly deteriorating cl...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198603000-00016
更新日期:1986-03-01 00:00:00
abstract::In mice, secondary alveolar septal formation primarily occurs during a brief postnatal period and is accompanied by transient expansion of the interstitial lung fibroblast (LF) population. PDGF-A, which solely signals through PDGF-receptor-alpha (PDGF-Rα), is required for expansion, but the receptor's relevant downstr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821cfb5a
更新日期:2011-07-01 00:00:00
abstract::The ontogenetic renal responsiveness to exogenous cortisol was examined in the chronically cannulated ovine fetus. The contribution of effects at proximal and distal tubule of the kidney were studied also. Cortisol (81.5 micrograms/h) was infused into immature ovine fetuses (mean gestational age -113.9 days) on five o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198907000-00002
更新日期:1989-07-01 00:00:00
abstract::Children treated for acute lymphoblastic leukemia may develop reduced bone mineral density during treatment, but there is little information on the mechanisms involved. In a prospective, longitudinal study on 15 children with ALL, we undertook serial measurements of markers of bone and collagen turnover, insulin-like ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200010000-00012
更新日期:2000-10-01 00:00:00
abstract::There is evidence that an elevated erythropoietin (EPO) concentration is associated with signs of iron deficient erythropoiesis. The aim of this study was to evaluate the iron status by means of novel cellular indices and serum iron markers and to determine whether these are associated with EPO and pH in the venous co...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318179957d
更新日期:2008-08-01 00:00:00
abstract::Prematurity is associated with delayed postnatal activation of mitochondrial oxidative phosphorylation and impaired switch from glycolytic to oxidative metabolism. Fatty acids (FA), which represent a major energy substrate in mature muscle cells, are engaged in the postnatal activation of genes of energy metabolism an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000054687.07095.0B
更新日期:2003-04-01 00:00:00
abstract::Biotin responsive multiple carboxylase deficiency was suspected in a third trimester conceptus on the basis of enzymatic confirmation in fibroblasts cultured from an earlier sibling who suffered a demise in the immediate neonatal period. Maternal urinary organic acid profile was normal throughout the final 4 wk of pre...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198202000-00010
更新日期:1982-02-01 00:00:00
abstract::The purpose of this study was to determine the effect of chest wall distortion on esophageal manometry by measuring simultaneous esophageal pressure changes at two sites in preterm infants. Fourteen infants were studied (mean +/- SD; birth weight, 1340 +/- 260 g; age, 8.5 +/- 4 d). Esophageal pressure was measured thr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199505000-00010
更新日期:1995-05-01 00:00:00
abstract::The interactions between CD40 and CD40L (CD154) are critical for effective humoral immune response. CD40 signaling facilitates T lymphocyte dependent B cell proliferation and immunoglobulin isotype switch. The objective of our study was to investigate the CD40 and CD40L expression on peripheral blood mononuclear cells...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000219298.96471.18
更新日期:2006-06-01 00:00:00
abstract::The gastrointestinal (GI) barrier function is immature in the preterm neonate and might thus facilitate translocation of enteric bacteria and gut-derived septicemia. Circumstantial evidence suggests that bacterial uptake from the intestine may be further enhanced by an alteration of the host nutritional status. To tes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199603000-00007
更新日期:1996-03-01 00:00:00
abstract::We studied absorption of the potentially allergenic protein beta-lactoglobulin during acute rotavirus diarrhea in infants and assessed the relationship of this macromolecular absorption with intestinal sugar permeability. After oral rehydration, 38 patients with acute gastroenteritis were given orally a 100-ml solutio...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199109000-00019
更新日期:1991-09-01 00:00:00
abstract::Phototherapy results in the conversion of bilirubin to more water-soluble isomers. Six clinically used phototherapy lamps which differ in their emission spectra have been compared in their ability to produce configurational and structural isomers of bilirubin in vitro. For all of the lamps, the initial rate of configu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198407000-00021
更新日期:1984-07-01 00:00:00
abstract::Pulmonary hypoplasia has been associated with absent or hypoplastic pulmonary artery in four cases in humans. Despite these reports, the effects of decreased pulmonary arterial flow on fetal lung growth have not been adequately studied. This study defines the effects of left pulmonary artery (LPA) ligation on fetal lu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199002000-00004
更新日期:1990-02-01 00:00:00
abstract::Uteroplacental insufficiency alters the anabolic metabolism of the fetus, resulting in intrauterine growth retardation (IUGR). The metabolic and physiologic factors that cause IUGR have long standing consequences after birth. Postnatal growth and glucose metabolism are altered in the IUGR infant. Skeletal muscle is an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199805000-00001
更新日期:1998-05-01 00:00:00
abstract::Pseudohypoaldosteronism is a hereditary salt-wasting syndrome usually seen in infancy with weight loss, dehydration, and failure to thrive. The pathophysiologic origin of pseudohypoaldosteronism is unknown. The defect could be related to the unresponsiveness of target organs to mineralocorticoids resulting in hyponatr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199403000-00021
更新日期:1994-03-01 00:00:00
abstract:BACKGROUND:Although it is commonly accepted that upper airway obstruction (UAO) increases gastroesophageal reflux (GER), the link is poorly understood and insufficiently documented. In addition, while hypoxia is often encountered in infants with UAO, its consequences on GER are virtually unknown. The two aims of the pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0920-8
更新日期:2020-05-01 00:00:00
abstract::Apoptosis of CD4+ and CD8+ T cells has been shown in peripheral blood mononuclear cells (PBMCs) from HIV-infected adults analyzed after overnight culture. Because cell death may be an artifact of in vitro culture, and because there is little information on apoptosis in pediatric HIV disease, we undertook a cross-secti...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-199711000-00018
更新日期:1997-11-01 00:00:00
abstract::We studied the effects of exogenously administered adrenomedullin on fetal pulmonary arterial blood flow in near-term fetal sheep. The hemodynamic effects of a single injection of adrenomedullin into the left pulmonary artery were compared with those of acetylcholine; the effects of repeated injections of adrenomedull...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199704000-00007
更新日期:1997-04-01 00:00:00
abstract::Lung development progresses through a process reliant on mechanical cell stretch. However, this process is not well defined at the molecular level. Our goal was to globally analyze the transcriptome of fetal mouse lungs following short periods of tracheal occlusion (TO) to identify cellular processes that are rapidly ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31815eba47
更新日期:2008-02-01 00:00:00
abstract:BACKGROUND:After birth, breastfeeding is the exclusive source of hormonal signaling between mother and infant. Hospitalized infants often receive donor milk when their own mother's milk is unavailable. METHODS:The presence of insulin, leptin, cortisol, progesterone, and testosterone was examined in samples from milk b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0789-6
更新日期:2020-10-01 00:00:00
abstract::Hypoxic ischemia is a common cause of damage to the fetal and neonatal brain. Although systemic and cerebrovascular physiologic factors play an important role in the initial phases of hypoxic-ischemic injuries, the intrinsic vulnerability of specific cell types and systems in the developing brain may be more important...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-200106000-00003
更新日期:2001-06-01 00:00:00
abstract::Clinical trials demonstrated decreasing rates of bronchopulmonary dysplasia in preterm infants with hypoxic respiratory failure treated with inhaled nitric oxide (iNO). However, the molecular and biochemical effects of iNO on developing human fetal lungs remain vastly unknown. By using a well-characterized model of hu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181d4f20f
更新日期:2010-05-01 00:00:00
abstract::Jejunal biopsies obtained from 45 children referred for a variety of clinical conditions were examined histologically and by standard immunofluorescence methods. The number of plasma cells was recorded per "mucosal tissue unit". The results showed that most of the immunoglobulin A (IgA) counts in infants under 3 yr wi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197906000-00002
更新日期:1979-06-01 00:00:00
abstract::Early childhood overweight and obesity have alarmingly increased over the years. Adulthood obesity is a well demonstrated significant independent predictor of cardiovascular risk (CVR) and/or mortality, which predisposes to the major components of metabolic syndrome (MS). Evidence of MS in obese children has been also...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/pdr.0b013e31805d8a8c
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is the most common systemic vasculitis syndrome primarily affecting medium-sized arteries, particularly the coronary arteries. Though KD may be associated with immunological problems, the involvement of microRNAs (miRs) has not been fully described. METHODS:We enrolled 23 KD patients a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.93
更新日期:2016-09-01 00:00:00
abstract::Neuroblastoma, a neural crest-derived childhood tumor of the sympathetic nervous system, may in some cases differentiate to a benign ganglioneuroma or regress due to apoptosis. However, the majority of neuroblastomas are diagnosed as metastatic tumors with a poor prognosis despite intensive multimodal therapy. The neu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199909000-00014
更新日期:1999-09-01 00:00:00
abstract:BACKGROUND:The preterm newborn is at high risk of developing cardiovascular compromise during the first day of life and this is associated with increased risk of brain injury. Standard treatments are volume expansion and administration of inotropes, typically dopamine and/or dobutamine, but there is limited evidence th...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.156
更新日期:2016-12-01 00:00:00
abstract::Pathomechanisms involved in obstructive apneas remain obscure. Apnea arousal failure has been proposed as a cause for sudden death during sleep. The present study hypothesizes an interdependency between upper airway dilating submental muscle electromyogram (EMG) activity (EMGsub), diaphragmatic muscle activity (EMGdia...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199509000-00005
更新日期:1995-09-01 00:00:00
abstract::Left ventricular (LV) output nearly triples at birth, in association with increases in serum catecholamines. Similar increases in catecholamines in utero, however, do not increase output. We hypothesized that catecholamines increase contractility in utero, but that output cannot increase until LV loading conditions ar...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199701000-00009
更新日期:1997-01-01 00:00:00