Abstract:
:Hirschsprung's disease, affecting one in 5000 live newborns, is the most common cause of neonatal intestinal obstruction. The obstruction or, later in life, constipation arises from the lack of enteric ganglia in the hindgut, thus resulting in poor coordination of peristalsis. Mutations in Hirschsprung patients have so far been reported in five genes associated in two different receptor-ligand systems, RET-GDNF/NTN and EDNRB-EDN-3, and an additional gene with yet unknown precise function, SOX10. We report the results of single-stranded conformation polymorphism screening of the endothelin-3 gene in a Swedish population-based material of 66 sporadic and nine familial Hirschsprung's disease cases. We have found a novel heterozygous mutation in exon 2, c.262insG, in a patient with sporadic short segment Hirschsprung's disease without any Waardenburg features. This frameshift results in a premature stop two codons further on. Because this stop is introduced 5' of the biologically active protein, this mutation can hence be predicted to result in haplo-insufficiency.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Svensson PJ,Von Tell D,Molander ML,Anvret M,Nordenskjöld Adoi
10.1203/00006450-199905010-00018subject
Has Abstractpub_date
1999-05-01 00:00:00pages
714-7issue
5 Pt 1eissn
0031-3998issn
1530-0447journal_volume
45pub_type
杂志文章abstract:BACKGROUND:Neonates with hypoxic-ischemic encephalopathy (HIE) frequently develop acute kidney injury (AKI). Aminophylline has been shown to reduce severe renal dysfunction in neonates after perinatal asphyxia. However, the effect of aminophylline on renal function in neonates undergoing hypothermia has not been studie...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0999-y
更新日期:2020-06-05 00:00:00
abstract::Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199101000-00012
更新日期:1991-01-01 00:00:00
abstract::Taurine is an essential amino acid during fetal life and appears to be vital for the growth of the fetus and for the development of the CNS. In intrauterine growth restriction (IUGR), fetal plasma concentrations of taurine are reduced, and we tested the hypothesis that this is caused by altered placental transport of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199808000-00016
更新日期:1998-08-01 00:00:00
abstract::Small bowel resection decreases brush border membrane (BBM) glucose uptake kinetics. Oral epidermal growth factor (EGF) returns net glucose transport across intact tissue to control levels despite persistence of a defect in BBM glucose uptake. The purpose of this study was to examine the effects of resection and EGF t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000098500.94041.9B
更新日期:2004-01-01 00:00:00
abstract::Several epithelial ion transporters are developmentally regulated in the preweaning period, at the time when the circulating levels of glucocorticoid and mineralocorticoid hormones increase. The specific role of glucocorticoids and mineralocorticoids in the maturation of epithelial ion transport is still disputed. In ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199508000-00005
更新日期:1995-08-01 00:00:00
abstract:BACKGROUND:Congenital portosystemic shunt (CPSS) has the potential to cause hepatic encephalopathy and thus needs long-term follow-up, but an effective follow-up method has not yet been established. We aimed to evaluate the importance of per-rectal portal scintigraphy (PRPS) for long-term follow-up of CPSS. METHODS:We...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.11
更新日期:2014-05-01 00:00:00
abstract::To study the effects of podocyte injury on glomerular maturation and underlying mechanisms of such effects, puromycin aminonucleoside (PAN) was given to neonatal mice at 1 d post partum (1 dpp). Mice with PAN injection had smaller kidney weight (KW) and body weight (BW) at all times and smaller KW/BW at 4, 8, and 12 d...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31813cbed1
更新日期:2007-10-01 00:00:00
abstract::The field of regenerative medicine continues to make substantial advancements in therapeutic strategies addressing urologic diseases. Tissue engineering borrows principles from the fields of cell biology, materials science, transplantation and engineering in an effort to repair or replace damaged tissues. This review ...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e31816a704a
更新日期:2008-05-01 00:00:00
abstract::This work examines the dynamic surface pressure-area behavior of films of unconjugated bilirubin spread from chloroform solution at 22 degrees C on 0.15 M NaCl and buffered phosphate subphases. Film behavior is examined at pH 5.5, 7.4 and 8.0. The interactions of bilirubin in mixed films with dipalmitoyl phosphatidylc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198202000-00011
更新日期:1982-02-01 00:00:00
abstract::Endothelin (ET)-1 is a potent vasoconstrictor peptide that modulates basal pulmonary vascular resistance (PVR) in the normal ovine fetus and contributes to high PVR after chronic intrauterine pulmonary hypertension. Although high PVR is present in premature lambs with severe hyaline membrane disease (HMD), whether ET-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199808000-00006
更新日期:1998-08-01 00:00:00
abstract::Ambient oxygen concentration and vascular endothelial growth factor (VEGF)-A are vital in lung development. Since hypoxia stimulates VEGF-A production and hyperoxia reduces it, we hypothesized that VEGF-A down-regulation by exposure of airways to hyperoxia may result in abnormal lung development. An established model ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31815b4857
更新日期:2008-01-01 00:00:00
abstract::The two pathways of de novo lecithin synthesis, choline incorporation (I) and phosphatidylethanolamine methylation (II), were examined in lung slices from rhesus monkey fetuses throughout the last half of gestation. Incorporation rates of pathway-specific radioactive precursors were used as a measure of lecithin produ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197508000-00009
更新日期:1975-08-01 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::In Chinese children with steroid-resistant nephrotic syndrome (SRNS), it was reported that NPHS2 mutation was detected in 4.3%, which was lower than that in Caucasians (10-30%). However, there were no data on WT1 mutation in nephrotic syndrome (NS), especially in early-onset NS of Chinese children. Thus, a study, whic...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181e4c9e3
更新日期:2010-08-01 00:00:00
abstract::Recently a soybean oil emulsion (Intralipid) (IL) has been released in the United States for use as a parenteral nutrient. The study reported here was undertaken to determine the effect of ingestion of IL on the synthesis and secretion of the second (C2) and fourth (C4) components of complement by guinea pig peritonea...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197903000-00012
更新日期:1979-03-01 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::Staphylococcus aureus has been isolated at an increasing rate from infants' stools during the last decades, but it is not known whether this species can colonize and persist in the intestinal microflora. To investigate this, 49 Swedish infants were followed prospectively from birth until 12 months of age. S. aureus wa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200012000-00007
更新日期:2000-12-01 00:00:00
abstract::Simultaneous measurements of serum immunoreactive thyrocalcitonin (iTCT), immunoreactive parathyroid hormone (iPTH), calcium, inorganic phosphate, magnesium, and alkaline phosphatase were made in 37 normal children whose ages ranged from 6-12 years. Between the ages of 6 and 12 there is a statistically significant ris...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197702000-00006
更新日期:1977-02-01 00:00:00
abstract::Although the pathogenesis of necrotizing enterocolitis remains uncertain, ischemia appears to be an important contributing factor to the development of this disorder. Reperfusion plays a major role in ischemia-related injury, and oxygen free radicals produced during reperfusion most likely contribute to the injury. Th...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199708000-00009
更新日期:1997-08-01 00:00:00
abstract::This study tested the hypothesis that the sexually dimorphic adrenocortical response to stress is already established before birth. Chronically instrumented late gestation pregnant sheep carrying 16 male and 15 female age-matched singleton fetuses were subjected to an acute episode of hypoxic stress. Maternal and feta...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3182042a20
更新日期:2011-02-01 00:00:00
abstract::It is customary to estimate the uteroplacental function in singletons by defining appropriateness of birth weight by gestational age. Such a measure, however, is not available for the entire multiple pregnancy set. We evaluate a new index, total triplet birth weight, expressed as multiples of the median (MOM) birth we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000202757.47761.76
更新日期:2006-04-01 00:00:00
abstract:INTRODUCTION:The Coulter LH780 hematology analyzer can evaluate mean neutrophil volume (MNV), conductivity (MNC), scatter (MNS), and distribution width (DW). We sought to investigate the value of volume, conductivity, and scatter (VCS) parameters in diagnosis and treatment efficacy of neonatal sepsis. RESULTS:We obser...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.16
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Diseases of adulthood, such as diabetes and hypertension, may be related to changes during pregnancy, particularly in kidney. We hypothesized that acute kidney injury progresses more rapidly in cases of fetal programming. METHODS:Diabetic dams' offspring were divided into: CC (controls, receiving vehicle); ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.205
更新日期:2015-03-01 00:00:00
abstract::The mechanisms of how glutamine benefits critically ill patients have not been established. The purpose of this study was to determine the effects of dietary and endogenously produced glutamine on small intestinal morphology using light and transmission electron microscopy in artificially reared rat pups. It was hypot...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200209000-00021
更新日期:2002-09-01 00:00:00
abstract::The present study aimed to test whether an acute period of asphyxia during birth in the rat results in long-term alterations in CNS function. Morphologic studies have indicated that the hippocampus is particularly vulnerable to perinatal anoxia. Thus, the present study tested adult rats, which had undergone acute birt...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199504000-00018
更新日期:1995-04-01 00:00:00
abstract::A four-year-old Israeli Arab boy was found to have glycogen accumulation in both liver and muscle without clinical symptoms. Liver phosphorylase kinase (PK) activity was 20% of normal, resulting in undetectable activity of phosphorylase a. Muscle PK activity was about 25% of normal, resulting in a marked decrease of p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198104000-00002
更新日期:1981-04-01 00:00:00
abstract::A strongly positive tuberculin skin reaction (> 1.5 cm2) was observed during the acute phase of the illness in 11 children with Kawasaki disease (KD), but not in control pediatric patients with other febrile infections (41 patients) or diseases similar to KD (9 patients). The cutaneous sensitivity to intermediate stre...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199704000-00017
更新日期:1997-04-01 00:00:00
abstract::The purpose of this investigation was twofold: (1) to identify and characterize the enzymatic ATP hydrolysis system of epithelial cilia, and (2) to develop a quantitative, biochemical test for the ciliotoxic cystic fibrosis (CF) factor based on inhibition of ATP utilization by ciliary preparations. Our rationale for s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197602000-00012
更新日期:1976-02-01 00:00:00
abstract::Maternal smoking doubles the risk of delivering a low birth weight infant. The purpose of this study was to analyze differential gene expression in umbilical cord tissue as a function of maternal smoking, with an emphasis on growth-related genes. We recruited 15 pregnant smokers and 15 women who never smoked during pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31817c5507
更新日期:2008-08-01 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