Abstract:
:The carbohydrate-deficient glycoprotein syndromes are a recently individualized group of genetic multisystemic disorders. A predominant feature is a severe involvement of the central and peripheral nervous system resulting in psychomotor retardation, seizures, ataxia, and, mostly after infancy, stroke-like episodes. The hallmark biochemical feature is a carbohydrate deficiency in a large number of serum glycoproteins. Because coagulation factors and inhibitors are also glycoproteins, we performed a systematic study of these factors and inhibitors in nine patients with carbohydrate-deficient glycoprotein syndrome. All showed a decreased activity of factor XI and of the coagulation inhibitors antithrombin III and protein C. In five of seven patients more than 1 y old, there was also a (less pronounced) decrease of protein S and of heparin cofactor II. This combined coagulation inhibitor deficiency could explain the stroke-like episodes occurring in these children.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Van Geet C,Jaeken Jdoi
10.1203/00006450-199305000-00024subject
Has Abstractpub_date
1993-05-01 00:00:00pages
540-1issue
5eissn
0031-3998issn
1530-0447journal_volume
33pub_type
杂志文章abstract::125I-Tyr insulin (125I-Tyr Ins) was injected into the vitelline vein of rat fetuses in utero after 17, 19, or 21 days of gestation. Three min later, the weight and radioactivity of various organs and of the remaining carcass were measured. A radioactivity concentration index (RCI) was calculated by dividing the specif...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198109000-00014
更新日期:1981-09-01 00:00:00
abstract::All-trans retinoic acid (ATRA) stimulates platelet-derived growth factor (PDGF)-A expression and enhances alveolarization in rat lungs. On d 16 of gestation, pregnant Sprague-Dawley rats were randomly assigned to either a retinoic acid group (intragastric ATRA at 10 mg/kg body weight) or a vehicle group. We punctured ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31815685b9
更新日期:2007-11-01 00:00:00
abstract::The key enzymes in the synthesis of the naturally occurring polyamines, ornithine decarboxylase (ODC) and S-adenosyl methionine (SAM) decarboxylase, were investigated during cell growth and aging in fibroblast cultures from normal patients and patients with cystic fibrosis. A linear correlation between increased S-ade...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197703000-00009
更新日期:1977-03-01 00:00:00
abstract::The activity of UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase (EC 2.4.2.26), the enzyme that catalyzes the initiation of the polysaccharide chain linkage to the core protein of proteoglycans, was measured in costal cartilage from 20 fetal sheep of 65-138 days gestation. Activity of the enzyme was es...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198512000-00003
更新日期:1985-12-01 00:00:00
abstract::Allergies are increasing, and despite deeper insights into the immunologic basis of these diseases, preventive measures are not yet efficient. As the induction of allergic diseases is often triggered in early childhood, perinatal or prenatal preventive strategies would be beneficial. We investigated the transfer of in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200009000-00024
更新日期:2000-09-01 00:00:00
abstract::Prolonged unconjugated hyperbilirubinemia in infants associated with breast milk feeding is a common pediatric problem known as breast milk jaundice (BMJ). A polymorphic mutation (G71R) of bilirubin UDP-glucuronosyltransferase (UGT1A1) is a known cause of BMJ on the infantile side, but the responsible components of br...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31822f242e
更新日期:2011-11-01 00:00:00
abstract::Sudden infant death syndrome is the most common cause of postneonatal infant mortality in the developed world. It is a diagnosis of exclusion with peak age of incidence between 2 and 6 mo. Fifty to 63% of these infants have a preexisting upper respiratory tract infection before death. We hypothesized that the immature...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200210000-00005
更新日期:2002-10-01 00:00:00
abstract::This study aimed to characterize early neonatal microvascular function after preeclamptic pregnancy with respect to infant sex and in utero growth. Peripheral microvascular blood flow was examined prospectively from 6 to 72 h of age using laser Doppler flowmetry in a cohort of term infants of normotensive women and wo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318193edf1
更新日期:2009-03-01 00:00:00
abstract:BACKGROUND:Secreted frizzled-related protein 5 (SFRP5) is an adipokine protecting against obesity-related insulin resistance and diabetes. SFRP5 binds to wingless type mouse mammary tumor virus (MMTV) integration site family member 5A (WNT5A) to improve insulin sensitivity. We performed the first study of SFRP5 and WNT...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.29
更新日期:2014-06-01 00:00:00
abstract::Normal values for the percentages of lymphocytes carrying surface membrane-bound immunoglobulin, or rosetting with sheep erythrocytes, ox erythrocytes coated with rabbit immunoglobulin G, or ox erythrocytes coated with rabbit immunoglobulin M and reacted with human serum partially de-complemented with zymozan, have be...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197906000-00016
更新日期:1979-06-01 00:00:00
abstract::Because minimal information is available about surfactant metabolism in bronchopulmonary dysplasia, we measured half-lives and pool sizes of surfactant phosphatidylcholine in very preterm baboons recovering from respiratory distress syndrome and developing bronchopulmonary dysplasia, using stable isotopes, radioactive...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200211000-00019
更新日期:2002-11-01 00:00:00
abstract::Neurological injury is the primary lethal mechanism of injury in children, and the primary etiology of long-term disability after trauma. Laboratories and clinical/translational teams have sought to develop stem/progenitor cell therapies to improve recovery in a clinical setting in which there is no significant repara...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2017.253
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:There is an emerging evidence that pulmonary hypertension is associated with amino acid, carnitine, and thyroid hormone aberrations. We aimed to characterize metabolic profiles measured by the newborn screen (NBS) in infants with persistent pulmonary hypertension of the newborn (PPHN) METHODS: Nested case-co...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0023-y
更新日期:2018-08-01 00:00:00
abstract::Sparse-fur mice, 28 d of age with the x-chromosomal inherited defect of ornithine carbamoyltransferase, were used to investigate if tryptophan and the serotonin pathway in the brain are affected in this animal model which closely resembles the human inborn error of metabolism. Increased concentrations of tryptophan an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198404000-00014
更新日期:1984-04-01 00:00:00
abstract::We have identified two unrelated girls with chronic neutropenia [absolute neutrophil counts (ANC) 10-870 and 10-940/microL in patients 1 and 2, respectively] and severe defect in superoxide anion generation by granulocytes. Formyl-methionyl-leucyl-phenylalanine-induced superoxide release was 1.2 +/- 0.9 and 1.9 +/- 1....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199501000-00011
更新日期:1995-01-01 00:00:00
abstract::Infants dying with bronchopulmonary dysplasia (BPD) demonstrate increased numbers of pulmonary neuroendocrine cells (PNEC). These infants also possess altered airway epithelial and smooth muscle dimensions reminiscent of oxygen-exposed animals. Because the pathogenesis of BPD involves oxygen toxicity, we hypothesized ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199710000-00020
更新日期:1997-10-01 00:00:00
abstract:BACKGROUND:Type 1 diabetes (T1D) is a serious diagnosis with the prospect of grave short- and long-term complications and even death if poorly managed. An attempt has been made to describe how clinical and immunological deviations might influence each other close to the diagnosis of T1D. METHODS:Sixty-nine newly diagn...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.167
更新日期:2014-01-01 00:00:00
abstract::Milk gangliosides inhibit Vibrio cholerae enterotoxin and Escherichia coli heat-labile enterotoxin. Human milk gangliosides showed considerably higher enterotoxin-inhibitory activity compared to bovine and formula milk gangliosides as measured in vitro by enzyme-linked immunosorbent assay and in vivo in rabbit small b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198605000-00008
更新日期:1986-05-01 00:00:00
abstract::The syndrome of hypoxemia-related myocardial dysfunction in the newborn is generally associated with severe intrapartum asphyxia. We investigated the changes in total and regional distribution of myocardial blood flow (MBF) that occur during asphyxia and the factors that regulate MBF, in the chronically prepared, near...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198408000-00019
更新日期:1984-08-01 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 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::This patient presented on the first day of life with pronounced lactic acidosis with an elevated lactate/pyruvate ratio. Urine organic acids showed Krebs cycle metabolites and mildly elevated methylmalonate and methylcitrate. The acylcarnitine profile showed elevated propionylcarnitine and succinylcarnitine. Amino aci...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181e5c3a4
更新日期:2010-08-01 00:00:00
abstract::Naloxone, a specific opiate antagonist with no agonist properties, in doses of 0.4 and 4.0 mg/kg was found to markedly reduce the duration of primary apnea in asphyxiated newborn rabbits. There was no effect on the duration of the hyperpneic phase (time to primary apnea) or on survival time (time to last gasp). It is ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198004000-00021
更新日期:1980-04-01 00:00:00
abstract::Kinetic data are presented for the decarboxylation of branched chain alpha-ketoacids (BCKA) by intact human fibroblasts. Cultured cells of normal individuals and nine patients with different clinical pictures of maple syrup urine disease (MSUD) are studied with both alpha-ketoisocaproic acid (2-oxo-4-methylpentanoic a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197509000-00005
更新日期:1975-09-01 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::Vitamin A and its precursor beta-carotene are naturally occurring antioxidants. The effects of diets deficient in beta-carotene and vitamin A on the alveolar-capillary membrane were studied in young adult BALB/C mice before and after exposure to 65% oxygen. One of three diets (standard complete, beta-carotene deficien...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198801000-00017
更新日期:1988-01-01 00:00:00
abstract::We describe a method based on a Fabry-Perot interferometer at the tip of an optic fiber with a diameter of 0.25 mm for direct measurement of tracheal pressure in pediatric respiratory monitoring. The response time of the pressure transducer and its influence on the resistance of pediatric endotracheal tubes (internal ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200203000-00013
更新日期:2002-03-01 00:00:00
abstract::Neonatal hypoxic-ischemic encephalopathy (HIE) is a clinically defined neurological condition after lack of oxygen and often associated with cardiac dysfunction in term infants. Therapeutic hypothermia (HT) after birth is neuroprotective in infants with HIE. However, it is not known whether HT is also cardioprotective...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31822941ee
更新日期:2011-10-01 00:00:00
abstract::Fetal lung cyclic AMP phosphodiesterase, cyclic AMP, phosphatidyl choline, and incorporation of precursors into phosphatidyl choline were measured in rabbits after maternal administration of hydrocortisone phosphate and aminophylline. Both agents inhibited lung phosphodiesterase activity and augmented cyclic AMP conce...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197606000-00011
更新日期:1976-06-01 00:00:00
abstract::We investigated the developmental changes in the pattern of urinary metabolites of theophylline, a substrate for CYP1A2, to study when CYP1A2, which is absent in the perinatal period, fully develops during childhood. The urinary ratios of three metabolites (1-methyluric acid, 3-methylxanthine, and 1,3-dimethyluric aci...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199901000-00011
更新日期:1999-01-01 00:00:00