Abstract:
:An infant with the acute neonatal form of pyruvate carboxylase deficiency (cross-reacting material negative) presented with severe intractable lactic acidosis within 4 h after birth. He also had hyperammonemia, hypercitrullinemia, and hyperlysinemia. Plasma glutamine was not elevated. He had a rapidly deteriorating clinical course with severe liver dysfunction, repeated septicemia and seizures; he was comatose and was on a ventilator throughout; death occurred at 8 wk of age. Skin fibroblast study confirmed the enzyme deficiency. Detailed biochemical parameters and histopathology of the brain and liver are presented. The evidence from this infant suggests that disturbances of intracellular oxaloacetate levels as a result of the primary enzyme defect might also contribute to deficiency in ATP generation which may explain the various other biochemical changes and liver pathology.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Wong LT,Davidson AG,Applegarth DA,Dimmick JE,Norman MG,Toone JR,Pirie G,Wong Jdoi
10.1203/00006450-198603000-00016subject
Has Abstractpub_date
1986-03-01 00:00:00pages
274-9issue
3eissn
0031-3998issn
1530-0447journal_volume
20pub_type
杂志文章abstract::Skin fibroblasts derived from 6 patients with cystic fibrosis (CF), 1-6 months old, and from 6 age matched donors were investigated for their ability to accumulate cyclic adenosine 3':5'-monophosphate (c-AMP) in response to isoproterenol and prostaglandin E1 (PGE1) using strictly defined culture conditions. In order t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198003000-00018
更新日期:1980-03-01 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
pub_type: 杂志文章
doi:10.1203/00006450-200110000-00019
更新日期:2001-10-01 00:00:00
abstract:BACKGROUND:The aim of this study is to compare new pediatric nomograms for clinical parameters from 2D echocardiography. METHODS:2D pediatric echocardiographic parameters from four recent nomograms were used for statistical analysis. To assess the accuracy of the predictive models from each study, namely multivariate,...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0900-z
更新日期:2020-04-24 00:00:00
abstract::In blood vessels with diameters less than 500 microns, both the hematocrit and viscosity decrease with decreasing tube diameter [Fåhraeus effect (FE) and Fåhraeus-Lindqvist effect (FLE)]. Because both effects may be influenced by red blood cell (RBC) volume and osmolality, the effects of RBC type and suspending medium...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199310000-00031
更新日期:1993-10-01 00:00:00
abstract::This study was undertaken to determine whether simultaneous activation of clotting, fibrinolysis, and kinin-kallikrein is associated with disease severity in preterm infants with neonatal respiratory distress syndrome (RDS), during the first 5 d of life. In the infants with severe RDS, we found activation of clotting,...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199701000-00019
更新日期:1997-01-01 00:00:00
abstract::Essential fatty acid deficiency (EFAD) occurs in infants fed fat-free mixtures of glucose and amino acids. Although infusion of lipid emulsion rapidly reverses clinical symptoms, little is known about effects on tissue fatty acids. To study this question, five groups (n = 4/group) of neonatal pigs were studied. Three ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198412000-00027
更新日期:1984-12-01 00:00:00
abstract::Innate immunity and urinary tract response play a central role in the development of urinary tract infection (UTI). Heat shock protein (HSP) 72 and Toll-like receptor (TLR) 4 are among the key elements of innate defence mechanisms. This study assesses the role of HSPA1B A(1267)G and TLR4 A(896)G polymorphisms using al...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318030d1f4
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:Pulmonary hypertension (PH) in patients with bronchopulmonary dysplasia (BPD) results from vasoconstriction and/or vascular remodeling, which can be regulated by mitogen-activated protein kinases (MAPKs). MAPKs are deactivated by dual-specificity phosphatases (DUSPs). We hypothesized that single-nucleotide p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0502-9
更新日期:2020-01-01 00:00:00
abstract::Previous studies have shown that early life stress in the form of intermittent maternal separation (MS) predisposes adult rats to develop stress-induced intestinal mucosal dysfunction and visceral hypersensitivity. However, the mechanism involved in the functional abnormalities is unclear. Our aim was to study immatur...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000190577.62426.45
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND:The aim of this study was to determine whether small-for-gestational-age (SGA) infants born very prematurely had increased respiratory morbidity in the neonatal period and at follow-up. METHODS:Data were examined from infants recruited into the United Kingdom Oscillation Study (UKOS). Of the 797 infants who...
journal_title:Pediatric research
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1038/pr.2012.201
更新日期:2013-04-01 00:00:00
abstract::Cerebral blood flow (CBF) measurement by near infrared spectroscopy (NIRS) using oxyhemoglobin (HbO2) as a tracer (CBF-HbO2) needs rapid changes in arterial oxygen saturation (SaO2) which often cannot be achieved in many sick infants. An alternative method based on the same adaptation of the Fick principle using i.v. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199801000-00006
更新日期:1998-01-01 00:00:00
abstract::The objective of the present study was to explore whether a free radical spin trap agent, alpha-phenyl-N-tert-butyl nitrone (PBN), influences bioenergetic failure induced in the 20-day-old fetal brain by 30 min of intrauterine ischemia in Wistar rats. Fetal brains were frozen in situ at the end of ischemia and after 1...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200004000-00007
更新日期:2000-04-01 00:00:00
abstract::The use of tissue engineering to develop new urinary bladder could have direct impact on children suffering from congenital bladder dysfunction. Current bladder tissue engineering protocols rely on scaffolds to support the ingrowth of new cells and the subsequent development of new tissues. The interaction between cel...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e3181d35034
更新日期:2010-05-01 00:00:00
abstract::Chenodeoxycholic acid labeled with 2H in the 11 and positions was prepared by catalytic reduction of delta 11-12 unsaturated derivatives of cholic acid. To validate the use of this stable isotope for the determination of bile acid kinetics by isotope dilution, it was administered to seven normal male volunteers simult...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1975-10-01 00:00:00
abstract::BackgroundPoor aerobic fitness is associated with worsening of asthma symptoms, and fitness training may improve asthma control. The mechanism linking fitness with asthma is not known. We hypothesized that repeated bouts of exercise would lead to a downregulation of glucocorticoid receptor (GR) expression on circulati...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.66
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:A lack of consensus exists as to the timing of kidney biopsy in children with steroid-dependent nephrotic syndrome (SDNS) where minimal change disease (MCD) predominates. This study aimed at examining the applicability of a biomarker-assisted risk score model to select SDNS patients at high risk of focal seg...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0277-z
更新日期:2019-03-01 00:00:00
abstract::Defective arousal mechanisms are viewed as contributory to sleep hypopnea disorders and sudden infant death syndrome. Sighs (i.e. augmented breaths) as well as startles have not traditionally been viewed as arousal-related phenomena in infants. We hypothesized that, if sighs and startles are the initial event in a seq...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199811000-00021
更新日期:1998-11-01 00:00:00
abstract::An imbalance in apoptosis or survival of immune cells plays an essential role in the pathophysiology of sepsis. Phagocytosis-induced cell death (PICD) is a common result of the pathogen-host cell interaction mediated by reactive oxygen species (ROS). Neonatal sepsis is frequently characterized by hyperinflammation. Co...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31815b8e9f
更新日期:2008-01-01 00:00:00
abstract::In spontaneously breathing newborn lambs, alveolar hypoxia increases lung microvascular pressure, which causes lung lymph flow to increase and the concentration of protein in lymph to decrease. To see if this response derives from hypoxia itself rather than from the change in breathing pattern that occurs during hypox...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198405000-00009
更新日期:1984-05-01 00:00:00
abstract::The length of the Y chromosome was measured in 42 black patients with trisomy 21 (47,XY,+21) and a similar number of normal individuals of American black ancestry. The length of the Y was expressed as a function of Y/F ratio and arbitrarily classified into five groups using subjectively defined criteria as follows: ve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198209000-00012
更新日期:1982-09-01 00:00:00
abstract::It seems quite likely that the normal process of fetal lung biochemical maturation is delayed by maternal diabetes and that abnormalities in the pulmonary surfactant system are involved. The appearance of PG in amniotic fluid and possibly in fetal lung is impaired or at least delayed. The same is possibly true for DSP...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-198503000-00001
更新日期:1985-03-01 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
abstract::Galactose metabolism was studied in human ovarian tissue obtained from 14 women controls between 21 and 72 y of age, and one 21-y-old galactosemic patient with hypergonadotrophic hypogonadism. Tissue slices were incubated with 1-14C-galactose, and labeled intermediates were analyzed by anion-exchange column chromatogr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198902000-00015
更新日期:1989-02-01 00:00:00
abstract::Soft bedding has been shown in epidemiologic studies to increase the risk for sudden, unexpected death in prone-sleeping infants. We compared the physical properties of conventional bedding to bedding from two sources: 1) bedding that covered the airways of victims of sudden infant death syndrome (SIDS) lying prone an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199407001-00002
更新日期:1994-07-01 00:00:00
abstract:BACKGROUND:Although cardiopulmonary bypass (CPB) has been previously studied as risking infection and inflammatory responses, few studies evaluate the relationship of preoperative high total immunoglobulin E (tIgE) to outcomes in pediatric patients predisposed to atopy undergoing cardiac surgery with CPB. METHODS:Seru...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0048-2
更新日期:2018-11-01 00:00:00
abstract::Mucosal samples from rabbit jejunum were incubated (30 min, 25 degrees C) with (125I)glycinin in the presence of buffer, soybean lectin (50 micrograms/ml) soyasaponins (1 mg/ml), or both lectin and saponins. The mucosal uptake of (125I)glycinin was negligible with buffer, and increased progressively with additions of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198209000-00005
更新日期:1982-09-01 00:00:00
abstract::The influence of maternal stress during pregnancy on the postpartum iron status and immune maturation of infants was investigated in a nonhuman primate model. Forty infant rhesus monkeys were generated from two types of disturbed pregnancies, early or late gestation stress, and compared with 24 undisturbed controls. P...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318045be53
更新日期:2007-05-01 00:00:00
abstract::Prematurity is associated with delayed postnatal activation of mitochondrial oxidative phosphorylation and impaired switch from glycolytic to oxidative metabolism. Fatty acids (FA), which represent a major energy substrate in mature muscle cells, are engaged in the postnatal activation of genes of energy metabolism an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000054687.07095.0B
更新日期:2003-04-01 00:00:00
abstract::The effect of diet, human milk or formula, on gastric function (lipase and pepsin activity, pH, and volume) and intragastric digestion of fat was assessed in 28 appropriate for gestational age preterm infants (gestational age, 28.9 +/- 1.4, 29.1 +/- 0.9, 29.5 +/- 0.6 wk; birth weight, 1.00 +/- 0.14 to 1.18 +/- 0.07 kg...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-199609000-00011
更新日期:1996-09-01 00:00:00
abstract::We studied absorption of the potentially allergenic protein beta-lactoglobulin during acute rotavirus diarrhea in infants and assessed the relationship of this macromolecular absorption with intestinal sugar permeability. After oral rehydration, 38 patients with acute gastroenteritis were given orally a 100-ml solutio...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199109000-00019
更新日期:1991-09-01 00:00:00