Abstract:
:To examine uridine diphosphate hexose (UDPhexose) content of cells that have more complete metabolic patterns than erythrocytes, which have been commonly used in the study of galactosemia, the concentrations of uridine diphosphate galactose (UDPgalactose) and uridine diphosphate glucose (UDPglucose) were determined in white blood cells (WBC) and fibroblasts cultured from skin biopsies. Leukocyte UDPgalactose and UDPglucose values were determined in 60 normal individuals, 14 classic galactosemics, and 18 patients with other metabolic diseases on protein-restricted and low-lactose diets. There was no difference in the average concentration of these compounds between any of these groups. There was no relationship between age and WBC UDPhexose content or correlation of WBC and erythrocyte UDPhexose levels in the same blood specimens. WBC from galactosemic individuals differ from their red blood cells because the former do not show the low average UDPgalactose levels and abnormal UDPglucose to UDPgalactose ratio previously reported for erythrocytes from galactose-1-phosphate uridyltransferase-deficient individuals. Fibroblast cell lines from 10 normal and 10 galactosemic individuals, cultured and grown to confluence in glucose medium, also showed no difference in nucleotide sugar concentrations. Thus far, of the cell types easily available, red blood cells appear to be unique in showing an abnormality in nucleotide sugar metabolism. The fact that galactosemic fibroblasts demonstrate no abnormality in the concentration of these compounds suggests that the defective galactosylation that has been observed in galactosemic fibroblasts is not due to unavailability of UDPgalactose.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Gibson JB,Reynolds RA,Palmieri MJ,States B,Berry GT,Segal Sdoi
10.1203/00006450-199411000-00014subject
Has Abstractpub_date
1994-11-01 00:00:00pages
613-8issue
5eissn
0031-3998issn
1530-0447journal_volume
36pub_type
杂志文章abstract::Mesenchymal stem cell (MSC) transplantation represents the next breakthrough in the treatment of currently intractable and devastating neonatal disorders with complex multifactorial etiologies, including bronchopulmonary dysplasia, hypoxic ischemic encephalopathy, and intraventricular hemorrhage. Absent engraftment an...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2017.249
更新日期:2018-01-01 00:00:00
abstract::Neuroblastoma, a neural crest-derived childhood tumor of the sympathetic nervous system, may in some cases differentiate to a benign ganglioneuroma or regress due to apoptosis. However, the majority of neuroblastomas are diagnosed as metastatic tumors with a poor prognosis despite intensive multimodal therapy. The neu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199909000-00014
更新日期:1999-09-01 00:00:00
abstract:BACKGROUND:Adult human airway smooth muscle (ASM) produce cytokines involved in recruitment and survival of leukocytes within airway walls. Cytokine generation by adult ASM is glucocorticoid-sensitive. Whether developing lung ASM produces cytokines in a glucocorticoid-sensitive fashion is unknown. METHODS:Cultured fet...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2015.168
更新日期:2015-12-01 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::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:BACKGROUND:Neonatal encephalopathy (NE) carries high risk for neurodevelopmental impairments. Therapeutic hypothermia (TH) reduces this risk, particularly for moderate encephalopathy (ME). Nevertheless, these infants often have subtle functional deficits, including abnormal memory function. Detection of deficits at the...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.169
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Neonates with hypoxic-ischemic encephalopathy (HIE) frequently develop acute kidney injury (AKI). Aminophylline has been shown to reduce severe renal dysfunction in neonates after perinatal asphyxia. However, the effect of aminophylline on renal function in neonates undergoing hypothermia has not been studie...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0999-y
更新日期:2020-06-05 00:00:00
abstract:BACKGROUND:Bronchopulmonary dysplasia (BPD) is an important cause of morbidity. The aim of this study was to evaluate the preventive effect of cytidine 5'-diphosphocholine (CDP-choline) treatment on hyperoxic lung injury in a neonatal rat model. METHODS:A total of 30 newborn pups were divided into control, hyperoxia, ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.68
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Pediatric myocarditis is a rare disease with substantial mortality. Little is known regarding its prognostic factors. We hypothesize that certain comorbidities and procedural needs may increase risks of poor outcomes. This study aims to identify prognostic factors for pediatric myocarditis. METHODS:The nati...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01268-7
更新日期:2020-11-18 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199606000-00001
更新日期:1996-06-01 00:00:00
abstract::Cardiac malformations (pulmonary trunk stenosis, ventricular septal defect, and double outlet right ventricle) were induced by the administration of two doses of retinoic acid (RA) to Wistar rats on d 13 of pregnancy. Contractile performance of the isolated perfused rat heart and its inotropic response to Ca2+ (0.6-10...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199512000-00011
更新日期:1995-12-01 00:00:00
abstract::To assess sleep organization in premature infants of < 35 wk gestational age (w GA), we performed polygraphic recordings in 24 neurologically normal neonates (eight per group): artificially ventilated 27-30 and 31-34 w GA infants and nonventilated 31-34 w GA infants. Sleep states were defined by concordance of EEG and...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199311000-00013
更新日期:1993-11-01 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::An assessment of pulsatile secretion of luteinizing hormone (LH), measured by both immunoassay (I-LH) and rat interstitial cell testosterone production bioassay (B-LH), as well as of follicle-stimulating hormone and glycoprotein hormone alpha-subunit was carried out in seven normal prepubertal and six normal premenarc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198704000-00018
更新日期:1987-04-01 00:00:00
abstract::We have explored the physiology of urinary epidermal growth factor (EGF) in the mouse by studying its ontogeny, and the effects of testosterone therapy on immunoreactive EGF (IR-EGF) concentrations in urine, kidney, serum and submandibular gland (SMG). Urine IR-EGF (U-EGF) increased about 100-fold relative to urea con...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198505000-00004
更新日期:1985-05-01 00:00:00
abstract:BACKGROUND:Hirschsprung disease (HSCR) is the third most common congenital disorder of the gastrointestinal tract. This study aims to elucidate changes in protein expression between the normal and aganglionic hindgut in human HSCR. METHODS:The biopsies were obtained from the normal and aganglionic hindgut in human HSC...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.33
更新日期:2014-06-01 00:00:00
abstract::Maternal smoking doubles the risk of delivering a low birth weight infant. The purpose of this study was to analyze differential gene expression in umbilical cord tissue as a function of maternal smoking, with an emphasis on growth-related genes. We recruited 15 pregnant smokers and 15 women who never smoked during pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31817c5507
更新日期:2008-08-01 00:00:00
abstract::Sudden infant death syndrome (SIDS) remains one of the primary causes of infant mortality in developed countries. Although the causes of SIDS remain largely inconclusive, some of the most informative associations implicate molecular, genetic, anatomical, physiological, and environmental (i.e., infant sleep) factors. T...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.90
更新日期:2014-09-01 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::In persistent hyperinsulinemic hypoglycemia of infancy, ketone body concentrations are abnormally low at times of hypoglycemia, depriving the brain of its most important alternative fuel. The neuroprotective effect of endogenous ketone bodies is evidenced by animal and human studies, but knowledge about exogenous supp...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-200208000-00025
更新日期:2002-08-01 00:00:00
abstract::BackgroundPatent ductus arteriosus (PDA) is a common complication seen in preterm infants. Indomethacin is routinely used to treat PDA. Evidence suggests that the response of indomethacin is highly heritable. This study investigated the association between single-nucleotide polymorphisms (SNPs) in CYP2C9 and the closu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.145
更新日期:2017-11-01 00:00:00
abstract::In an effort to characterize the hepatic abnormality in patients with alpha1-antitrypsin deficiency, three unrelated children with the disorder (Pi types ZZ and SZ), two heterozygous parents (Pi type MZ), and three normal subjects (Pi type MM) were studied. As expected, the livers of the ZZ- and SZ-deficient subjects ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197601000-00007
更新日期:1976-01-01 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:BACKGROUND:Serum caffeine concentrations >20 μg/ml (100 μmol/l) in infants treated for apnea of prematurity increases TNF-α and decreases IL-10, changes that perhaps are linked to comorbidities. We hypothesize that this proinflammatory cytokine profile may be linked to differential binding of caffeine to adenosine rece...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.50
更新日期:2016-07-01 00:00:00
abstract::Evaluation of nonlinear heart rate (HR) dynamics has received considerable attention in the pediatric literature because such analyses not only provide insight into underlying control mechanisms, but may also help to differentiate between normal and abnormal infants. The purpose of this study was to determine, in eigh...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199807000-00018
更新日期:1998-07-01 00:00:00
abstract::To study the normal development of blood coagulation factor activities in a growing fetus while avoiding the effects of labor and delivery, a chronic fetal lamb model was developed in which serial blood samples from 10 fetuses were studied during the third trimester of pregnancy and 24 hr after birth. Under operating ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198107000-00014
更新日期:1981-07-01 00:00:00
abstract::Chronic disease risk is inextricably linked to our early-life environment, where maternal, fetal, and childhood factors predict disease risk later in life. Currently, maternal obesity is a key predictor of childhood obesity and metabolic complications in adulthood. Although the mechanisms are unclear, new and emerging...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.169
更新日期:2015-01-01 00:00:00
abstract::Hypothermia is a frequent occurrence in newborns, and thermoregulatory management is a fundamental part of medical stabilization. Although modest reduction in brain temperature (2-3 degrees C) before ischemia provides neuroprotection in adults, the effect of modest hypothermia on immature brain has not been examined. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::The absolute and the percentage plasma NEFA pattern of healthy children, Cystic Fibrosis (C.F.) patients and their parents have been determined (table I, III, V) and compared with those of age and sex matched control subjects (table II, Iv, V). There is a striking difference in the percentage plasma NEFA pattern of C....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198009000-00015
更新日期:1980-09-01 00:00:00
abstract::We hypothesized that nitric oxide (NO) production by the fetal ductus arteriosus is limited because of low fetal PO2, but that at neonatal PO2, NO might be an important regulator of ductus arteriosus tone. We exposed isolated rings of fetal lamb ductus arteriosus to elevated PO2. L-NG-nitro-L-arginine methyl ester (L-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199805000-00012
更新日期:1998-05-01 00:00:00