Abstract:
:Metabolic studies on two patients with defects in the tyrosine oxidation pathway are reported. Serum tyrosine was greatly elevated in both patients (1.37 and 1.52 mmol/liter, respectively) and both excreted large quantities of p-hydroxyphenylacetic acid, p-hydroxyphenyllactic acid, and p-hydroxyphenylpyruvic acid. Deuterated tyrosine loads were administered to both patients, before and after lowering of the serum tyrosine concentration by dietary treatment, and to a normal adult control subject. In one patient the excretion of the deuterated (D2)-tyrosine load was more than 300 times that found in the control subject whether the test was done at high or low serum tyrosine level and the pattern of metabolites indicated a persistent defect in p-hydroxyphenylpyruvic acid oxidase. Enzyme assays on needle liver biopsy supported this finding. In the second patient excretion of the D2 label was 300 times that of the control at high serum tyrosine levels, but only 5 times normal at low serum tyrosine levels. This finding was interpreted as indicating substrate inhibition of p-hydroxyphenylpyruvic acid oxidase. The primary defect has not been established in this patient, but the findings are compatible with a defect in hepatic-soluble tyrosine aminotransferase.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Faull KF,Gan I,Halpern B,Hammond J,Im S,Cotton RG,Danks DM,Freeman Rdoi
10.1203/00006450-197705000-00002subject
Has Abstractpub_date
1977-05-01 00:00:00pages
631-7issue
5eissn
0031-3998issn
1530-0447journal_volume
11pub_type
杂志文章abstract::Critically ill infants are treated with dexamethasone (Dx) and other glucocorticoids to reduce inflammation and to promote lung and cardiac function. The neonatal immune system is immature, so neonatal dendritic cells (DCs) might be especially sensitive to glucocorticoid-mediated immunosuppression. To test this, we co...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000157677.72136.09
更新日期:2005-07-01 00:00:00
abstract::Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants by comprehensive r...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180a03232
更新日期:2007-08-01 00:00:00
abstract::The lymphocytes of human breast milk have been previously shown to be immunologically competent while the monocytes have been described as actively motile in some reports but not in another. Cells were separated from milk samples collected by lactating women 2 to 9 days postpartum. Milk cell migration and production o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198510000-00006
更新日期:1985-10-01 00:00:00
abstract:BACKGROUND:Real-time detection and classification of apneic episodes remain significant challenges. This study explores the applicability of a novel method of monitoring the respiratory effort and dynamics for rapid detection and classification of apneic episodes. METHODS:Obstructive apnea (OA) and hypopnea/central ap...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2015.69
更新日期:2015-07-01 00:00:00
abstract::The aim of the present study was to determine the proportion of gamma/delta T-lymphocytes and CD16/CD56 (CD3- and CD3+) cells in the peripheral blood of children and adolescents with Graves' disease (GD; n = 27; mean age, 15.5 +/- 5.1 y) and nontoxic nodular goiter (NTNG; n = 25; mean age, 15.2 +/- 5.7 y), in comparis...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000076663.94850.44
更新日期:2003-09-01 00:00:00
abstract:BACKGROUND:Appearance of sleep cycling has been associated with good outcome in term and preterm infants, but the normal time of its appearance has not been determined. The objectives of this study were, to correlate the time of sleep cycling appearance and the length of quiet sleep in neonates with different degrees o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0560-z
更新日期:2020-03-01 00:00:00
abstract::The response to the capsular polysaccharide of Haemophilus influenzae type b (Hib PS) has been used to determine the molecular basis of antibody gene diversity in humans. In contrast to the relatively restricted nature of anti-Hib PS heavy-chain variable region gene expression, a variety of light-chain variable region...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199303000-00022
更新日期:1993-03-01 00:00:00
abstract::Several markers of growth and biochemical development in the rat were studied after administration of prostacyclin (PGI2) and 16, 16-dimethyl prostaglandin E2 (16, 16DM PGE2). Intermittent administration of PGI2 for 3 days to 10- and 19-day-old animals, with subsequent sacrifice at 14 and 23 days, resulted in signific...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198307000-00004
更新日期:1983-07-01 00:00:00
abstract::Hemophagocytic lymphohistiocytosis (HLH) and Langerhans cell histiocytosis (LCH) are members of a group of rare heterogenous disorders, the histiocytoses, characterized by uncontrolled accumulation of pleomorphic infiltrates of leukocytes. The etiology of these diseases is mainly unknown. CD45 is a hemopoietic cell sp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000106803.15344.72
更新日期:2004-03-01 00:00:00
abstract::In dissociated whole brain cell cultures from newborn mice, we have previously shown that during glucose deprivation under normoxia, D-beta-hydroxybutyrate and oleic acid are increasingly used for energy production. We now asked whether this glucose dependency of the utilization of D-beta-hydroxybutyrate and oleic aci...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198911000-00023
更新日期:1989-11-01 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::Dexamethasone (Dex) and triiodothyronine (T3) were administered to pregnant rats during late gestation to evaluate potential developmental effects on fetal lung vitamin K-dependent carboxylation. Maternal rats were injected on the 2 d before study with Dex (0.2 mg/kg intraperitoneally), with T3 (0.7, 3.5, or 7 mg/kg i...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198905000-00021
更新日期:1989-05-01 00:00:00
abstract::The use of erythrocyte entrapment as a strategy to deliver and protect exogenously administered enzymes for replacement therapy in selected genetic diseases has been evaluated in a mammalian model system. The uptake, tissue distribution, intracellular localization, and in vivo lifetime of erythrocyte-entrapped bovine ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197512000-00011
更新日期:1975-12-01 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::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::Chronic fetal anemia causes polyhydramnios and fetal hydrops and is associated with increased fetal diuresis and natriuresis. To determine the role of atrial natriuretic peptide (ANP) in the renal adaptation to chronic fetal anemia we studied the effects of HS-142-1 (HS), a specific inhibitor of the guanylate cyclase-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199511000-00015
更新日期:1995-11-01 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is the most common systemic vasculitis syndrome primarily affecting medium-sized arteries, particularly the coronary arteries. Though KD may be associated with immunological problems, the involvement of microRNAs (miRs) has not been fully described. METHODS:We enrolled 23 KD patients a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.93
更新日期:2016-09-01 00:00:00
abstract::Studies were designed to develop an animal model for the syndrome of hypochloremic, hypokalemic metabolic alkalosis (HMA), and failure to thrive in infants due to intake of chloride-deficient formula. Littermate canine puppies, 2 wk old, were fed soy formula containing normal chloride, 20 mEq/liter (NC, n = 5), or low...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198705000-00015
更新日期:1987-05-01 00:00:00
abstract::Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chro...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2018.17
更新日期:2018-05-01 00:00:00
abstract::Cerebral development may be impaired in fetuses with congenital cardiovascular malformations, particularly hypoplastic left heart syndrome (HLHS) and aortopulmonary transposition (APT). The decreased cerebral arterial pusatility index observed in some of these fetuses led to the belief that cerebral vascular resistanc...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2016.65
更新日期:2016-08-01 00:00:00
abstract::The secreted protein sonic hedgehog (Shh) is essential for normal development of many organs. Targeted disruption of Shh in mouse leads to near complete absence of craniofacial skeletal elements at birth, and mutation of SHH in human causes holoprosencephaly (HPE), frequently associated with defects of derivatives of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000199911.17287.3e
更新日期:2006-03-01 00:00:00
abstract::Chitosan is a natural, cationic polysaccharide derived from fully or partially deacetylated chitin. Chitosan is capable of inducing large phospholipid aggregates, closely resembling the function of nonionic polymers tested previously as additives to therapeutic lung surfactants. The effects of chitosan on improving th...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000227558.14024.57
更新日期:2006-08-01 00:00:00
abstract::The cytotoxicity of natural killer (NK) cells against K562 cells and their responsiveness to interferon-alpha and interleukin 2 (IL-2) were studied throughout childhood using 51Cr-release and single-cell assays. Although NK activity was extremely low in the neonatal period, it almost reached the adult level during 1 t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199010000-00002
更新日期:1990-10-01 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::We used in vivo microdialysis to determine the impact of a focal hypoxic-ischemic insult on hippocampal amino acid efflux in the immature brain. Microdialysis probes were inserted into the right hippocampus of postnatal d 7 rats. To induce hypoxic-ischemic injury, the right carotid artery was ligated and animals were ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199112000-00021
更新日期:1991-12-01 00:00:00
abstract::The mitochondria play a major role in the regulation of intracellular calcium. Despite the fact that the enterocytes receive the majority of absorbed calcium, the role of the intestinal mitochondria in calcium transport during maturation is not known. Therefore, the current studies were designed to characterize calciu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198901000-00023
更新日期:1989-01-01 00:00:00
abstract::We studied the effects of anemia and ouabain administration on cardiac function, oxygen physiology, and blood catecholamine levels in nine newborn lambs. We measured oxygen consumption continuously, along with traditional hemodynamic variables. Oxygen transport was calculated. Following baseline measurements, lambs we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198705000-00005
更新日期:1987-05-01 00:00:00
abstract::Delivery of M. nemestrina at 80% of normal gestation provides a population of neonates at high risk for hyaline membrane disease (HMD). The diagnosis of HMD was made by the presence of reticulogranular densities and air bronchograms on chest radiographs. Patchy atelectasis was seen in the lungs of animals assigned by ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197905000-00017
更新日期:1979-05-01 00:00:00
abstract::The purpose of this study was to assess differences in sound spectra of crying of term newborns in relation to different pain levels. Fifty-seven consecutively born neonates were evaluated during heel-prick performed with different analgesic techniques. Crying was recorded and frequency spectrograms analyzed. A pain s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000099793.99608.CB
更新日期:2004-01-01 00:00:00
abstract::This study was designed to evaluate upper airway protective mechanisms in response to pharyngeal fluid stimulation in healthy term and preterm infants at term equivalent age. Five term and seven preterm infants were studied and the following recorded: sleep state, cardiorespiratory function, and swallowing. Infusions ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199811000-00011
更新日期:1998-11-01 00:00:00