Abstract:
:Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by diabetes, retinal degeneration, and neurologic symptoms. Affected patients evidence marked parenchymal iron accumulation in conjunction with an absence of circulating serum ceruloplasmin and molecular genetic analysis reveals inherited mutations in the ceruloplasmin gene. Taken together with earlier studies that characterized ceruloplasmin as a ferroxidase and recent work indicating an essential role for a homologous multicopper oxidase in iron metabolism in Saccharomyces cerevisiae, these findings reveal an essential role for ceruloplasmin in human iron metabolism. The presence of neurologic symptoms in patients with aceruloplasminemia is unique among the characterized disorders of iron metabolism, and recent findings indicate that astrocyte-specific ceruloplasmin gene expression is critical for iron metabolism and neuronal survival in the retina and basal ganglia. The discovery of this disease provides new insights into the pathways of CNS iron metabolism of direct relevance to a variety of nutritional and genetic disorders of childhood.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Gitlin JDdoi
10.1203/00006450-199809000-00001subject
Has Abstractpub_date
1998-09-01 00:00:00pages
271-6issue
3eissn
0031-3998issn
1530-0447journal_volume
44pub_type
杂志文章,评审abstract::Respiratory distress syndrome (RDS) due to surfactant deficiency is the most common cause of respiratory failure in preterm infants. Tremendous progress has been made since the original description that surfactant deficiency is the major cause of RDS. Surfactant therapy has been extensively studied in preterm infants ...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章,评审
doi:10.1038/pr.2016.203
更新日期:2017-01-01 00:00:00
abstract::There is increasing evidence that cortisol contributes to cardiovascular risk. It is unclear whether physiological concentrations of serum cortisol are related to vascular risk markers in children. The cross-sectional associations between morning serum cortisol and cardiovascular risk markers: blood pressure (BP) and ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181efc310
更新日期:2010-11-01 00:00:00
abstract::Hypercholesterolemia is common in preterm infants administered 10% Intralipid perhaps because of excess phospholipid in plasma causing efflux of cholesterol from tissues. The purpose of this study was to determine if cholesterol synthesis (as measured by plasma lathosterol) is increased in preterm infants (23-32 wk ge...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199202000-00020
更新日期:1992-02-01 00:00:00
abstract:BACKGROUND:Aminoglycoside exposure is a common cause of acute kidney injury (AKI). Delay in the diagnosis of AKI using conventional biomarkers has been one of the important obstacles in applying early effective interventions. We tested the hypothesis that urinary metabolomics could identify novel early biomarkers for t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.34
更新日期:2013-05-01 00:00:00
abstract:BACKGROUND:Long-term prefrontal cortex (PFC)- and hippocampus-based cognitive deficits are the sequelae of perinatal iron deficiency, despite iron supplementation starting in the newborn period. Whether high-dose iron supplementation prevents these deficits is yet to be determined. METHODS:Perinatal iron deficiency wa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.143
更新日期:2013-01-01 00:00:00
abstract::All enzymes of the urea cycle are demonstrable in circulating leukocytes. They show the same relative activities as those in liver except for argininosuccinate synthetase + lyase (combined) which seems to be disproportionately active. To see whether leukocytes reflect liver activity, blood from patients with three hep...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197506000-00004
更新日期:1975-06-01 00:00:00
abstract::Since the description of bronchopulmonary dysplasia (BPD) in premature infants, the supplemental oxygen administered has been suspect in the etiology of BPD. This has prompted studies on the effect of hyperoxia on lung growth in neonatal animals. So far, these have not led to a treatment which either prevents or mitig...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199608000-00007
更新日期:1996-08-01 00:00:00
abstract::Insulin treatment of prepubertal children with insulin-dependent diabetes improves body protein balance by decreasing the rate of protein degradation without stimulating protein synthesis. However, insulin also causes hypoaminoacidemia, so the inability of insulin to stimulate protein synthesis may have been limited b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000169976.20029.64
更新日期:2005-08-01 00:00:00
abstract::The sheep has served as an informative animal model for investigation of human fetal and newborn erythropoiesis and red blood cell (RBC) kinetics. We previously validated the permanent label (14C)cyanate for measuring red cell volume (RCV) in sheep. Here, we validate biotin labeling of RBCs as a nonradioactive method ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318183f119
更新日期:2008-11-01 00:00:00
abstract::We examined 78 fetuses on d 21 of gestation (G21) and 83 neonates on d 2 after birth (A2), which were first generation offspring of WKY rats mated with normal Wistar rats (F1). In addition, we examined six groups of fetuses on d 19 of gestation (G19): 65 Wistar rats, 111 WKY rats, 85 F1, 100 F1 X F1, 92 F1 X Wistar, a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199109000-00004
更新日期:1991-09-01 00:00:00
abstract:BACKGROUND:The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. METHODS:A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coeffici...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.177
更新日期:2017-01-01 00:00:00
abstract::Fetal growth restriction (FGR) remains a cause of perinatal brain injury, sometimes leading to neurological and intellectual impairment. Although the mechanisms and pathophysiology of CNS injuries have not been elucidated completely, it is possible carbohydrate and energy metabolism may have an important role in the F...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821b9d7c
更新日期:2011-07-01 00:00:00
abstract::Insulin administration is the primary therapy for type 1 diabetes mellitus (T1DM). Current available insulin therapies do not successfully enable children with T1DM to reach glycemic goals without side effects such as hypoglycemia and weight gain. Pramlintide is a synthetic analog of human amylin that acts in conjunct...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e3181975ee4
更新日期:2009-04-01 00:00:00
abstract::In view of the suggested relationship between substrate availability, fetal growth and circulating fetal IGF-I concentrations, we investigated the effect of maternal starvation on plasma IGF-I levels in the late gestation ovine fetus. Ten fetuses aged 125-130 d gestation were sampled daily from indwelling arterial cat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199004000-00015
更新日期:1990-04-01 00:00:00
abstract::The effects of passive respiratory syncytial virus (RSV) immune serum given as preinoculation prophylaxis, postinoculation prophylaxis, and as therapy on d 5 after inoculation were evaluated in an illness model of RSV infection in BALB/c mice. Pre- and postinoculation prophylaxis reduced RSV replication in lung after ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199308000-00013
更新日期:1993-08-01 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::Exercise-induced arterial hypoxemia (EIAH) is a recognized phenomenon in highly trained adults. Like adult athletes, prepubescent trained children may develop high-level metabolic demand but with a limited lung capacity in comparison with adults. The purpose of this investigation was to search for evidence of EIAH in ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000114481.58902.FB
更新日期:2004-04-01 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::This report describes a third mucopolysaccharidosis in animals: canine mucopolysaccharidosis VII. The affected dog was the offspring of a father-daughter mating. Weakness in the rear legs was evident at 8 weeks of age and became progressively worse. He had a large head, a shortened maxilla, and corneal granularities. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198410000-00014
更新日期:1984-10-01 00:00:00
abstract::There is great interest in the regenerative potential of the neural stem cells and progenitors that populate the germinal zones of the immature brain. Studies using animal models of pediatric brain injuries have provided a clearer understanding of the responses of these progenitors to injury. In this review, we have c...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2017.261
更新日期:2018-01-01 00:00:00
abstract::Inasmuch as taurine biosynthesis is decreased during early postnatal life, an efficient mechanism for taurine uptake by the liver must be present to maintain intracellular stores of this beta-amino acid. Therefore, basolateral liver plasma vesicles prepared from 14-day and adult rats were used to examine taurine trans...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198802000-00009
更新日期:1988-02-01 00:00:00
abstract::Intrauterine perfusion failure can cause cerebral malformations. We investigated the effect of transient maternal hypotension on newborn rat brain by inducing hypovolemic hypotension for 2.5 h during early embryonic day 7 (E7) or late (E15) gestation in pregnant rats. We found an increase in the number of TUNEL-positi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200101000-00012
更新日期:2001-01-01 00:00:00
abstract::Five patients with Bartter's syndrome were investigated. Sodium restriction (less than 10 mEq/day for at least 5 days) showed a renal sodium wastage in only two patients (I and II) in spite of increased aldosterone secretion rate (from 151-427 to 680-842 mug/day). The effect of angiotensin II (A II) 80ng/kg/min for 30...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197612000-00005
更新日期:1976-12-01 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::Hereditary surfactant protein B (SP-B) deficiency has been lethal in the first year of life without lung transplantation. We tested the hypothesis that SP-B gene mutations may result in milder phenotypes by investigating the mechanisms for lung disease in two children with less severe symptoms than have been previousl...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200009000-00003
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Bicuspid aortic valve (BAV) is the most common type of congenital heart disease (CHD) and has a proposed genetic etiology. BAV is categorized by cusp fusion, with right-left (R-L) cusp fusion being associated with additional CHD, and right-noncoronary cusp (R-NC) fusion being associated with aortic valve dys...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.67
更新日期:2014-08-01 00:00:00
abstract::Pups delivered by rats fed during pregnancy a choline-deficient (CD) diet containing 1% N,N-dimethylaminoethanol (DME) die within 36 hr of birth. The concentrations of sphingomyelins, phosphatidyl cholines, and disaturated phosphatidyl cholines in the lungs of these pups are lower than those in the lungs of pups deliv...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197809000-00014
更新日期:1978-09-01 00:00:00
abstract::The flavin-containing monooxygenases (FMOs) are important for the metabolism of numerous therapeutics and toxicants. Six mammalian FMO genes (FMO1-6) have been identified, each exhibiting developmental and tissue- and species-specific expression patterns. Previous studies demonstrated that human hepatic FMO1 is restri...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200202000-00018
更新日期:2002-02-01 00:00:00
abstract::Twelve-h overnight urine and serum samples obtained simultaneously at 20-min intervals were assayed for growth hormone (GH). Ninety-one children, 5 to 16 y (Tanner stage 1 to 3) participated; group 1 were healthy children, group 2 were children with organic GH deficiency, and group 3 had idiopathic growth failure and ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199106010-00019
更新日期:1991-06-01 00:00:00
abstract::To evaluate the response of the small intestinal mucosa to Saccharomyces boulardii (S.b.), a yeast widely used in some countries as an adjuvant drug with oral antimicrobial therapy, seven healthy adult volunteers were treated with high doses of lyophilized S.b. (250 mg four times per day) for 2 wk. A peroral jejunal s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198602000-00020
更新日期:1986-02-01 00:00:00