Abstract:
:A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Corbeel L,Hue L,Lederer B,De Barsy T,Van den Berghe G,Devlieger H,Jaeken J,Bracke P,Eeckels Rdoi
10.1203/00006450-198101000-00014subject
Has Abstractpub_date
1981-01-01 00:00:00pages
58-61issue
1eissn
0031-3998issn
1530-0447journal_volume
15pub_type
杂志文章abstract::Fetal intrauterine growth retardation was induced in nine rats at 17 days' gestation by ligating the blood supply to one of the uterine horn. The 27 festuses from the uterine vessel ligated side were the intrauterine growth retarded fetuses (IUGR) and the 37 fetuses from the nonligated side were controls. The mean wei...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197608000-00008
更新日期:1976-08-01 00:00:00
abstract::The fetal brain develops rapidly during the last trimester of pregnancy. Therefore, the brain of infants who are born preterm is vulnerable to changes in oxygen and nutrient supply in the neonatal period. The objective was to determine the effect of gestational age (GA) on the cerebral O2 supply threshold level for pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000153673.00627.F4
更新日期:2005-03-01 00:00:00
abstract::Alveolar macrophages were isolated from three cystic fibrosis patients, and the structure and function of these cells were compared to that of normal alveolar macrophages. The cystic fibrosis (CF) and normal alveolar macrophages were able to phagocytize Pseudomonas in the presence of normal serum, but cells from both ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198005000-00003
更新日期:1980-05-01 00:00:00
abstract::Long-term parenteral nutrition (TPN) in children is associated with sustained hyperinsulinemia due to a high nutriment infusion flow 12 h/24 h, with plausible lipotoxicity secondary to repeated lipid infusions and with changes in incretin hormone release. The aim of this study was to test whether long-term TPN can lea...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/PDR.0b013e3181559d5c
更新日期:2007-11-01 00:00:00
abstract::The development of amniotic fluid turbidity during the third trimester is a known marker of fetal lung maturity. We hypothesized that this turbidity results from detachment of vernix caseosa from the fetal skin secondary to interaction with pulmonary-derived phospholipids in the amniotic fluid. To test this hypothesis...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200007000-00021
更新日期:2000-07-01 00:00:00
abstract::Establishment of Helicobacter pylori infection as an etiologic agent of peptic ulcer disease and other gastric pathologies marked a revolution in gastroenterology which spurred an enormous interest in gastric physiology and immunology research. The association was soon also demonstrated in children as well. Applicatio...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2016.199
更新日期:2017-01-01 00:00:00
abstract::The ability of synthetic metalloporphyrins to suppress heme oxygenase activity and bilirubin formation has recently become of considerable clinical and experimental interest for suppression of jaundice in humans, including neonatal hyperbilirubinemia. The present investigation compares the biochemical effects of Sn- a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199209000-00016
更新日期:1992-09-01 00:00:00
abstract::Factors, such as insulin, found in human and pig colostrum and mature milk likely influence small intestinal growth and development. Although pharmacologic doses of insulin injected parenterally may accelerate small intestinal development in altricial animals such as the rodent, the effects of oral insulin on intestin...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199008000-00018
更新日期:1990-08-01 00:00:00
abstract:BACKGROUND:Neonatal seizures can result in chronic epilepsy and long-term behavioral and cognitive deficits. Levetiracetam (LEV), an antiepileptic drug that binds to the synaptic vesicle protein 2A (SV2A), has been increasingly used off-label for the therapy of neonatal seizures. Preclinical data regarding the acute or...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.151
更新日期:2013-01-01 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::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::BackgroundSotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.106
更新日期:2017-07-01 00:00:00
abstract::The rat undergoes profound maturational changes in the intestinal structure and function during the third week of its life. To investigate the role of peripheral glucocorticoid metabolism in this process, we studied the postnatal maturation of intestinal structure and function. The peripheral metabolism of glucocortic...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000058923.08017.6F
更新日期:2003-05-01 00:00:00
abstract::Infants fed soy-based infant formulas are exposed to high levels of genistein, an isoflavone, with potential estrogen-like activity. This study determined whether neonatal exposure of mice to genistein resulted in higher bone mineral density (BMD) and greater resistance to fracture at adulthood. Male and female CD-1 m...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000250200.94611.03
更新日期:2007-01-01 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::Pearson's syndrome, a rare and fatal disorder characterized by refractory sideroblastic anemia and pancreatic insufficiency in infancy, is classified into mitochondrial cytopathies. To understand the molecular and genetic bases of this disorder, we have investigated the mitochondrial respiratory chain enzymes and the ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199307000-00024
更新日期:1993-07-01 00:00:00
abstract::The purpose of this project was to study the role of lipid peroxidation in oxygen-induced lung injury in the newborn lamb. It was our hypothesis that injury to the microvascular bed of the lung by oxygen would coincide with a burst of peroxidative activity and would be accompanied by an increased rate of excretion of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199012000-00014
更新日期:1990-12-01 00:00:00
abstract::We studied the pre- and postnatal developmental regulation of the hepatic type I IGF receptor in the rat. Fetal rat liver membranes bound IGF-I throughout the latter part of gestation (d 17 to 21). After birth, binding diminished rapidly, reaching barely detectable levels by the 13th postnatal d. However, the presence...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199103000-00002
更新日期:1991-03-01 00:00:00
abstract::The visual evoked potential (VEP) of five healthy, near-term exteriorized fetal lambs was compared with the VEP obtained from the same animals during the first hour after ventilation. Characteristics of the individual wave components and their relationship to blood pressure, heart rate, and arterial blood gas measurem...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198111000-00009
更新日期:1981-11-01 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::Spleens from 1-20-wk-old guinea pigs infected in utero with Treponema pallidum and age-matched controls, born to normal and heat-killed (56 degrees C, 2 h.) T. pallidum-injected mothers, were examined for their in vitro lymphoproliferative response to phytohemagglutinin, concanavalin A, and lipopolysaccharide. Additio...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199712000-00013
更新日期:1997-12-01 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
pub_type: 杂志文章
doi:10.1203/00006450-200108000-00003
更新日期:2001-08-01 00:00:00
abstract::Birth is characterized by swift and complex transitions in hemodynamic and respiratory variables. Unrecognized pathologies or incidents may quickly become fatal or cause permanent damage. This article introduces an essential component of an acute perinatal care simulator, namely a model for educational simulation of n...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181c2def3
更新日期:2010-02-01 00:00:00
abstract::Amplitude-integrated EEG (aEEG) is used to select patients for neuroprotective therapy after perinatal asphyxia because of its prognostic accuracy within several hours after birth. We aimed to determine the natural course of aEEG patterns during the first 72 h of life, in relation to neurologic outcome, in a group of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000127019.52562.8c
更新日期:2004-06-01 00:00:00
abstract:BACKGROUND:This study aimed to determine the prevalence of respiratory pathogens among newborns admitted to a neonatal medium care unit (NMCU) and to identify clinical predictors. METHODS:A 1-y observational study was performed of neonates admitted to an NMCU in Amsterdam, The Netherlands. Nasopharyngeal samples were ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.176
更新日期:2013-03-01 00:00:00
abstract::An alteration in head position, which effects cerebral blood flow, may increase the risk for intraventricular hemorrhage in the critically ill infant. The purpose of this study was to evaluate in vivo cerebral oxidative metabolism as an index of tissue oxygen delivery reflecting brain blood flow, in healthy preterm an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198709000-00013
更新日期:1987-09-01 00:00:00
abstract::Reduced expression of bone morphogenetic protein receptors (BMPR) has been implicated in the pathogenesis of pulmonary hypertension (PH), but changes in the intracellular signaling pathway of BMPR have not been fully understood. We hypothesized that BMPR signaling in pulmonary endothelial cells is altered during the d...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e3180332cba
更新日期:2007-04-01 00:00:00
abstract::Mutations of genes involved in the innate immune system have been reported to be associated with an increased sepsis rate in adults. We determined the -159T mutation of the CD14 gene, the 896G mutation of the toll-like receptor 4 gene, the 3020insC mutation of the NOD2 gene (NOD2-3020insC), the IL-6 174G/C promoter po...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000112100.61253.85
更新日期:2004-04-01 00:00:00
abstract::A longitudinal study describes the pattern of appearance of eight primitive reflexes in a population of 47 viable extremely premature infants, beginning as early as 25 wk postconceptional age (PCA). Infants were examined weekly, from 1 wk of age until discharge from the neonatal intensive care unit. Primitive reflexes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198612000-00018
更新日期:1986-12-01 00:00:00
abstract::We report reference values for osteocalcin and bone and liver alkaline phosphatase (ALP) isoforms in serum from 114 healthy children and adolescents, age 7-16 y. The bone and liver ALP isoforms were measured by high performance liquid chromatography (HPLC). Six ALP isoforms were separated and quantified in all samples...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199512000-00021
更新日期:1995-12-01 00:00:00