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, which enrolled 36 Chinese children with early-onset (before 3 y old) NS and steroid resistance if failing steroid therapy (early-group), was conducted. As control, 35 children with SRNS and with disease onset age after 3 y old were also analyzed (control-group). WT1 gene was examined by PCR and direct sequencing. The result showed that in the early-group 6/36 (16.7%) were detected with WT1 mutations. Further analysis according to different onset age revealed that the mutation detection rates of WT1 were 26.3% (5/19), 6.3% (1/16), and 0 (0/1) in children younger than 1 y, 1-2 y, and 2-3 y, respectively. In control-group, no WT1 (0/35) mutation was detected. WT1 mutation combined with NPHS2 variant was detected in a girl. In conclusion, WT1 mutations seemed more common in Chinese children with early-onset NS.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Li J,Ding J,Zhao D,Yu Z,Fan Q,Chen Y,Zhang H,Zhong X,Huang J,Yao Y,Xiao Hdoi
10.1203/PDR.0b013e3181e4c9e3subject
Has Abstractpub_date
2010-08-01 00:00:00pages
155-8issue
2eissn
0031-3998issn
1530-0447journal_volume
68pub_type
杂志文章abstract::Carnitine palmitoyltransferase (CPT) consists of two activities located in the outer (CPT I) and the inner (CPT II) mitochondrial membranes. CPT II deficiency in the adult as well as in the infantile form of the disease has been shown to result from mutations in the CPT II cDNA. Nothing is known regarding the genetic ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199610000-00005
更新日期:1996-10-01 00:00:00
abstract::Intrauterine growth restriction (IUGR) is a recognized risk factor for neurologic deficits later in life. Abnormal fetal blood flow in the presence of fetal growth retardation helps to distinguish true fetal growth impairment from small but normally grown infants. The present study aimed to investigate the influence o...
journal_title:Pediatric research
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doi:10.1203/01.PDR.0000129660.32875.09
更新日期:2004-07-01 00:00:00
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journal_title:Pediatric research
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更新日期:1989-10-01 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::This investigation was undertaken to determine the nature of acute alterations in renal function following the production of hypoxemia, hypercarbia, and acidosis in newborn piglets 6-96 hr of age. After completion of the surgical procedure piglets were allowed to recover from the effects of anesthesia. When respirator...
journal_title:Pediatric research
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doi:10.1203/00006450-197803000-00013
更新日期:1978-03-01 00:00:00
abstract::The absolute and the percentage plasma NEFA pattern of healthy children, Cystic Fibrosis (C.F.) patients and their parents have been determined (table I, III, V) and compared with those of age and sex matched control subjects (table II, Iv, V). There is a striking difference in the percentage plasma NEFA pattern of C....
journal_title:Pediatric research
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doi:10.1203/00006450-198009000-00015
更新日期:1980-09-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1991-04-01 00:00:00
abstract:BACKGROUND:The epithelial-mesenchymal transition (EMT) has been implicated as a key mechanism in the pathogenesis of liver fibrosis. The miR-200 family has been shown to inhibit EMT. METHODS:Liver fibrosis levels were assessed with Masson's trichrome staining of liver samples obtained from biliary atresia (BA) patient...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.181
更新日期:2015-02-01 00:00:00
abstract::Immunosuppressive effects of carrageenan, a high-molecular-weight polysaccharide, on antibody and T cell responses have been previously demonstrated. However, its effect on anaphylaxis is unknown. Our objectives were to test carrageenan-mediated oral tolerance induction in young mice subsequently sensitized to a commo...
journal_title:Pediatric research
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doi:10.1203/00006450-200103000-00018
更新日期:2001-03-01 00:00:00
abstract::Newborn rats exposed to 60% O(2) for 14 d demonstrated a bronchopulmonary dysplasia-like lung morphology and pulmonary hypertension. A 21-aminosteroid antioxidant, U74389G, attenuated both pulmonary hypertension and macrophage accumulation in the O(2)-exposed lungs. To determine whether macrophage accumulation played ...
journal_title:Pediatric research
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doi:10.1203/00006450-200108000-00003
更新日期:2001-08-01 00:00:00
abstract::To investigate the detailed pattern of change in circulating gonadotropin and testosterone concentrations around the onset of puberty and to determine the temporal relationship between the gonadotropin and testosterone secretion, plasma gonadotropin and testosterone were measured at 20-min intervals for 24 h in 21 nor...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199308000-00026
更新日期:1993-08-01 00:00:00
abstract::A comparative study of two smallpox vaccines, standard calf lymph vaccine, and an attenuated vaccine, CVI-78, was performed in 95 children. Primary vaccination with CVI-78 resulted in a more attenuated response than primary vaccination with standard vaccine. Sixty-one percent of those vaccinated with CVI-78 and 96 per...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197508000-00002
更新日期:1975-08-01 00:00:00
abstract::The microbiome, of which the bacterial component alone (microbiota), is estimated to include 10 times more cells than human cells of the body, blooms immediately after birth and evolves in composition and complexity throughout childhood. The gut microbiome has a profound impact on gastrointestinal tract development, m...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.162
更新日期:2015-01-01 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:BACKGROUND:Bilirubin-induced neurologic dysfunction (BIND) is a spectrum of preventable neurological sequelae in jaundiced newborns. Current total plasma bilirubin (BT) concentration thresholds for phototherapy and/or exchange transfusion poorly predict BIND. METHODS:The unbound (free) bilirubin (Bf) measured at these...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-018-0010-3
更新日期:2018-10-01 00:00:00
abstract::The placenta is essential to nutrition before birth. Recent work has shown that a range of clearly defined alterations can be found in the placentas of infants with intrauterine growth restriction (IUGR). In the mouse, a placental specific knockout of a single imprinted gene, encoding IGF-2, results in one pattern of ...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/01.PDR.0000181381.82856.23
更新日期:2005-11-01 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::Fetuin-A prevents tissue calcification by forming soluble complexes with calcium and phosphate. A pathological depletion of serum fetuin-A has been observed in children on dialysis or after renal transplantation but knowledge on physiologic age-related changes in serum fetuin-A is limited. We prospectively evaluated s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181bc3f60
更新日期:2009-12-01 00:00:00
abstract::Kawasaki disease (KD) is an acute vasculitis of young childhood predominantly affecting the coronary arteries. IgA plasma cells have been found to infiltrate vascular and nonvascular tissues in fatal acute KD. To determine whether IgA B-lymphocytes were increased in the peripheral blood of patients with KD, we perform...
journal_title:Pediatric research
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doi:10.1203/00006450-200110000-00019
更新日期:2001-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200209000-00011
更新日期:2002-09-01 00:00:00
abstract::We have recently purified autoantigen polypeptides reacting with celiac disease patient sera IgA from the extracellular noncollagenous matrix compartment of fetal lung tissue. These molecules trigger the production of different tissue antibodies, the so-called antireticulin and antiendomysium antibodies in celiac dise...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199310000-00007
更新日期:1993-10-01 00:00:00
abstract::Prothrombin of newborns was investigated by means of the quantitative immunoelectrophoresis and the two-dimensional immunoelectrophoresis. The plasma of 10 of 24 healthy term newborns and of 5 preterm infants taken immediately after birth showed one prothrombin precipitate in the alpha-2-beta-globulin position when a ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197911000-00011
更新日期:1979-11-01 00:00:00
abstract::Unconjugated bilirubin promotes intestinal secretion without affecting nutrient digestion or absorption. In the current study, the effects of unconjugated bilirubin (UCB) on the barrier function of the intestinal epithelium were investigated. The apical side of human intestinal cell line Caco-2 monolayers was challeng...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000220344.09034.63
更新日期:2006-07-01 00:00:00
abstract::The short-term (0-48 h) effects of maternal betamethasone administration on computerized fetal heart rate (FHR) parameters were studied in 36 pregnancies at increased risk for preterm delivery. FHR was recorded for 90 min immediately before the start of betamethasone treatment and again at 6-h intervals during the nex...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000155948.83570.EB
更新日期:2005-04-01 00:00:00
abstract::The previous biochemical evidence had suggested that glutaric aciduria type II (GA II) is due to deficient dehydrogenation of multiple short-chain acyl coenzyme A's (CoA's), bu the precise biochemical mechanism underlying this disease was unknown. We investigated substrate oxidation and in vitro activities of isovaler...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198012000-00013
更新日期:1980-12-01 00:00:00
abstract:BACKGROUND:To examine differences in comorbidities and surgical management based on socioeconomics in hospitalized children with Crohn's disease (CD). METHODS:Using the Kids' Inpatient Database for 2006-2012, we identified patients (<21 years) with a CD diagnosis. Cases were analyzed and stratified by median parental ...
journal_title:Pediatric research
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doi:10.1038/s41390-020-0830-9
更新日期:2020-12-01 00:00:00
abstract::Various assay methods for detection of thyroid hormones in human milk were evaluated in recovery and dilution experiments after which the concentrations of thyroxine (T4) and 3,5,3'-triiodothyronine (T3) were measured and compared with those in serum. The effect of breast feeding on pituitary thyroid function of norma...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198306000-00008
更新日期:1983-06-01 00:00:00
abstract:BACKGROUND:The pathogenesis of BPD includes inflammation and oxidative stress in the immature lung. Corticosteroids improve respiratory status and outcome, but the optimal treatment regimen for benefit with low systemic effects is uncertain. METHODS:In a pilot dose escalation trial, we administered ≤5 daily doses of b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01343-z
更新日期:2021-01-19 00:00:00
abstract::We established an experimental animal model of the gastrointestinal colonization and systemic disease following oral challenge of type III group B streptococcal strain in 3-day-old newborn rats. Two type III group B streptococcal strains isolated from the cerebrospinal fluid of septic newborn infants produced coloniza...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198412000-00022
更新日期:1984-12-01 00:00:00
abstract::There is significant uncertainty over the role of assessment of long-term neurodevelopmental outcome (LTO) in neonatal clinical trials. A multidisciplinary working group was established to identify key issues in this area and to make recommendations about optimal approaches to evaluate LTO in therapeutic trials in new...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-019-0526-1
更新日期:2019-11-01 00:00:00