Abstract:
:Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had very little or no f.IX:Ag. Also four of nine patients with moderately severe disease had very low antigen levels, approximately equal to their factor IX clotting activity (f.IX:C), whereas the other 5 had antigen in excess of activity. Of the 23 investigated patients with mild haemophilia B, 20 had f.IX:Ag approximately equal to f.IX:C, whereas 3 had normal amounts of antigen. One family with mild disease was found to have a possible variant of haemophilia B Leyden, earlier described in a few families with moderately severe disease. No haemophilia BM variants, characterized by prolonged prothrombin time with bovine brain thromboplastin, were found. We have shown earlier that the immunoradiometric assay of f.IX was useful in the prenatal evaluation of one fetus at risk for haemophilia B. The present study shows that the assay can be applied for prenatal diagnostic purposes in the vast majority of carriers of severe haemophilia B and in about half of the carriers of moderately severe disease.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Ljung R,Holmberg Ldoi
10.1203/00006450-198203000-00019subject
Has Abstractpub_date
1982-03-01 00:00:00pages
256-8issue
3eissn
0031-3998issn
1530-0447journal_volume
16pub_type
杂志文章abstract:BACKGROUND:For the second aim of the Kellogg Foundation grant, this double-blind RCT investigated the impact of plasma vitamin D metabolite 25-hydroxyvitamin D (25(OH)D) on plasma immune-mediators during pregnancy. We hypothesized that higher 25(OH)D concentrations would associate with reduced pro-inflammatory and incr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0885-7
更新日期:2020-04-20 00:00:00
abstract::In human infants and newborn rats, white light at the intensity used to treat hyperbilirubinemia lowers serum calcium concentration. Occipital shielding or (in newborn rats) exogenous melatonin prevents this effect. Propranolol, by inhibiting melatonin synthesis, also causes hypocalcemia, which is preventable by melat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199006000-00006
更新日期:1990-06-01 00:00:00
abstract:BACKGROUND:The aim of the study was to describe and contrast the brain development and outcome among very preterm infants that were and were not exposed to surgery requiring general anesthesia prior to term equivalent age (TEA). METHODS:Preterm infants born ≤30 weeks' gestation who did (n = 25) and did not (n = 59) ha...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-1030-3
更新日期:2020-06-23 00:00:00
abstract:BACKGROUND:Aberrant immune responses play a key role in the pathogenesis of inflammatory bowel disease (IBD). Most studies conducted to delineate the underlying molecular mechanisms focus on adults; an understanding of these mechanisms in children remains to be determined. Here, cytokines and transcription factors prod...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0486-5
更新日期:2020-04-01 00:00:00
abstract:INTRODUCTION:Cerebral white-matter (WM) abnormalities on magnetic resonance imaging (MRI) correlate with neurodevelopmental disability in infants born prematurely. RESULTS:Quantitative histological measures of WM and ventricular volumes correlated with qualitative MRI scores of WM volume loss and ventriculomegaly. Dif...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.33
更新日期:2012-02-01 00:00:00
abstract::We examined the effect of inspiratory resistive loaded breathing (IRL) on the electromyographic (EMG) activity of the costal and crural diaphragm in nine anesthetized spontaneously breathing piglets (age 10-23 days, weight 2.8-4.4 kg). Bipolar wire electrodes were inserted into the anterior paratendinous costal diaphr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198701000-00007
更新日期:1987-01-01 00:00:00
abstract::To date, many mutations, including intronic nucleotide changes, in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) have been reported in Gitelman's syndrome (GS) patients. However, it has not been clarified whether intronic nucleotide changes affect mRNA content. Since mRNA analys...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318031935a
更新日期:2007-04-01 00:00:00
abstract::There is in vitro evidence that the ductus venosus of the fetal and newborn lamb relaxes to administration of E-series prostaglandins. We performed this study to determine whether the ductus venosus of the newborn lamb could be reopened by an infusion of prostaglandin E1. Fifteen lambs between 4 and 28 h of life and s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198703000-00002
更新日期:1987-03-01 00:00:00
abstract::We evaluated bone mineralization by single photon absorptiometry at 2 y in a cohort of preterm infants studied since birth. Infants were fed human milk fortified with Ca [to achieve 80 mg/dL (19.96 mmol/L)] and P [40 mg/dL (12.91 mmol/L)] from wk 2 through 8 after birth. After hospital discharge, infants were divided ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199206000-00009
更新日期:1992-06-01 00:00:00
abstract::Insulin is a potent mitogen for many cell types in vitro. During tissue culture, supraphysiological concentrations of insulin are necessary to promote cell replication in connective or musculoskeletal tissues. Insulin promotes the growth of these cells by binding, with low affinity, to the type I insulin-like growth f...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-198509000-00001
更新日期:1985-09-01 00:00:00
abstract::Infantile Refsum's disease is characterized by high levels of phytanic acid and the absence of normal hepatic peroxisomes. We investigated the in vivo influence of phytol, a precursor of phytanic acid, on peroxisomes by both biochemical and morphological methods. Enhanced supply of phytol in the diet of adult mice cau...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198605000-00007
更新日期:1986-05-01 00:00:00
abstract::Hypoxic-ischemic injuries can evolve over several days, and recent studies suggest that further neuronal death may occur 6 to 72 h later. Because cerebral temperature is an important determinant of outcome during the primary injury, we investigated the effect of temperature, on outcome, during the later phases of inju...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199604000-00005
更新日期:1996-04-01 00:00:00
abstract::Thrombocytopenia in the first days of life, in association with evidence of reduced megakaryocytopoiesis and platelet production at birth, is common in sick preterm babies. Thrombopoietin (Tpo) is the major regulator of platelet production in adults. However, these babies have low Tpo levels at birth, suggesting that ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199907000-00005
更新日期:1999-07-01 00:00:00
abstract::A specific, enzyme-linked immunoabsorbent assay was used to determine the concentration of the 35,000 mol wt surfactant apoprotein (SP-A) in samples of amniotic fluid obtained from nondiabetic (n = 358) and diabetic (n = 29) women. The enzyme-linked immunoabsorbent assay was performed with rabbit antibodies directed a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198812000-00016
更新日期:1988-12-01 00:00:00
abstract::Long-term EEG monitoring (LTM) with several electrodes could be a useful tool for surveillance of the brain during the first critical days of life. This study aimed to assess the feasibility of multichannel LTM for automated analysis of EEG activity from d 1 to 3 using eight electrodes. Premature infants (GA <31 wk; n...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821267d2
更新日期:2011-05-01 00:00:00
abstract::Chondro-osseous tissue from five patients with diastropic dwarfism was studied by histologic, histochemical, and electron microscopic methods. The major abnormalities observed were: 1) irregular distribution of chondrocytes undergoing degeneration in the resting cartilage; 2) abnormal distribution of collagens in the ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197908000-00007
更新日期:1979-08-01 00:00:00
abstract::Bacillus Calmette-Guerin (BCG) vaccination can protect animals from asthma, but the effect of BCG on childhood asthma prevention is controversial in humans. To verify the hypothesis that the BCG anti-asthma effect in childhood might be reversed by a respiratory virus infection, newborn BALB/c mice were divided into fi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000196368.08210.5c
更新日期:2006-02-01 00:00:00
abstract:BACKGROUND:Observational studies suggest that asthma control improves after adenotonsillectomy, but longitudinal studies that correlate the effect of the procedure on the levels of biomarkers associated with airway inflammation are limited. METHODS:We conducted a longitudinal, observational study on pediatric patients...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.237
更新日期:2014-03-01 00:00:00
abstract::Epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) are mitogenic to the intestinal epithelium. To further clarify their role in the developing human fetal gut, their expression was studied in fetuses at 15 to 20 wk of gestation. TGF-alpha mRNA was present throughout the gastrointestinal tra...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199305000-00012
更新日期:1993-05-01 00:00:00
abstract::The response of cerebral blood volume (CBVR) to a small induced change in arterial carbon dioxide tension was studied by near-infrared spectroscopy in 17 newborn infants born from 26 wk of gestation to term. All 17 infants were undergoing mechanical ventilation but had apparently normal brains. The CBVR per kPa change...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199106010-00007
更新日期:1991-06-01 00:00:00
abstract::The change in the pattern of biotransformation of [14C]corticosterone in fetal mouse brain between gestational day 14 and 17 increased the proportion of unchanged hormone from 9-75%. A sharp decrease in the in vitro incorporation of [14C]leucine, [3H]uridine, and [3H]thymidine into incubated brain coincided with this ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197812000-00011
更新日期:1978-12-01 00:00:00
abstract:BACKGROUND:Physical activity (PA) is essential for children throughout their growth and maturation. It improves physiological and psychological health and limits the risk of developing metabolic disorders. However, some chronic physiological and metabolic diseases may lead to decreased PA. The diversity of outcomes in ...
journal_title:Pediatric research
pub_type: 杂志文章,meta分析
doi:10.1038/s41390-019-0409-5
更新日期:2019-08-01 00:00:00
abstract::The effect of somatomedin and cortisol on embryonic chick cartilage in vitro indicates that somatomedin stimulates 35SO4 uptake while cortisol decreases it with no effect on glycosaminoglycan turnover. Xylosyltransferase activity is increased in crude fractions of somatomedin-treated cartilage but decreased in cortiso...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197902000-00002
更新日期:1979-02-01 00:00:00
abstract::The hypoxanthine concentration in plasma was found to be a sensitive parameter of hypoxia of the fetus and the newborn infant. The plasma level of hypoxanthine in the umbilical cord in 29 newborn infants with normal delivery varied between 0 and 11.0 mumol/liter with a mean of 5.8 mumol/liter, SD 3.0 mumol/liter. Comp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197504000-00002
更新日期:1975-04-01 00:00:00
abstract::The interrelationship of 2,3-diphosphoglycerate (2,3-DPG) and P50 levels during the fetal and postnatal life were determined in two mammalian species which do not have a switchover of hemoglobin type at the end of their fetal development. In the guinea pig and rabbit, the 2,3-DPG levels remain low during fetal life an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197903000-00006
更新日期:1979-03-01 00:00:00
abstract::Our objectives were to establish antecedent factors and patterns of brain injury and their prognostic value in preterm infants with hypoxic-ischemic encephalopathy (HIE). Essential inclusion criteria were gestation (GA) < or =36 wk, Apgar scores <5/<7 at 1/5 min, major resuscitation at birth, and a brain MRI <6 postna...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181a9ef34
更新日期:2009-08-01 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::Premature birth causes significant health risks of the neonate and increases the cost for neonatal care. Urogenital infection, often caused by Gram-negative bacteria, is a known risk factor. Toll-like receptor-4 (TLR4) is the major endotoxin-signaling receptor and as such is crucial for the initiation of the innate im...
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::The sp act of galactose-1-phosphate uridyltransferase has been measured in individual regions of adult rat brain to see if site-specific differences in enzyme activity can aid in the understanding of brain abnormalities observed in well-treated galactosemic patients. The sp act in the cerebellum, brain stem, and midbr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199205000-00021
更新日期:1992-05-01 00:00:00
abstract::Keratinocyte growth factor (KGF, or fibroblast growth factor 7) was previously reported to enhance the synthesis of surfactant in alveolar type II cells. We investigated the possible interactions between KGF and a glucocorticoid, dexamethasone (Dex), on surfactant protein (SP) gene expression. In cultured fetal rat ty...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000047840.77635.AE
更新日期:2003-02-01 00:00:00