Abstract:
:A method is developed for the detection of homozygotes and heterozygote carriers of Niemann-Pick disease type A by employing a high performance liquid chromatography (HPLC) technique for the measurement of sphingomyelin (SP) as well as for the assay of the enzyme sphingomyelinase (SPase) in skin fibroblasts and amniotic fluid cell cultures. A simple, less than 10-min, HPLC of the lipid extract of fibroblasts (about 2 x 10(6) cells) and measurement of the ratio of the area of SP peak to that of other phospholipids present in the cell-lipid extract show accumulation of SP in Niemann-Pick type A fibroblasts compared to normal. The SPase assay was performed by HPLC measurement of the substrate SP before and after hydrolysis by the enzyme. By employing this technique, it was shown that cells from patients with Niemann-Pick disease type A have less than 10% of the normal SPase activity, whereas the heterozygote carriers of this disease have about 50% of the normal activity.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Jungalwala FB,Milunsky Adoi
10.1203/00006450-197805000-00008subject
Has Abstractpub_date
1978-05-01 00:00:00pages
655-9issue
5eissn
0031-3998issn
1530-0447journal_volume
12pub_type
杂志文章abstract::Periventricular leukomalacia (PVL), the major substrate of neurologic deficits in premature infants, is associated with reduced white matter volume. Using immunomarkers of axonal pathology [beta-amyloid precursor protein (beta-APP) and apoptotic marker fractin], we tested the hypothesis that widespread (diffuse) axona...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31816c825c
更新日期:2008-06-01 00:00:00
abstract::The present study examined the extent to which abundance of the prolactin receptor (PRLR) and a range of primary mitochondrial proteins are influenced by either maternal nutrition and/or fetal number in adipose tissue. Pregnant sheep were control fed [consuming 100% of total metabolizable energy (ME) requirements (tak...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000047653.73271.C4
更新日期:2003-02-01 00:00:00
abstract:INTRODUCTION:To examine the immune-modulatory effects of probiotics during early infancy, Bifidobacterium breve M-16V (B. breve) was administered to rat pups during the newborn or weaning period, and the expression of inflammatory genes was investigated using a cDNA microarray and real-time PCR. RESULTS:After B. breve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.11
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Aberrant immune responses play a key role in the pathogenesis of inflammatory bowel disease (IBD). Most studies conducted to delineate the underlying molecular mechanisms focus on adults; an understanding of these mechanisms in children remains to be determined. Here, cytokines and transcription factors prod...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0486-5
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:To evaluate the apoptosis inhibitor of macrophage (AIM) deposition patterns on the kidneys of children with IgA nephropathy (IgAN) and Henoch-Schönlein purpura nephritis (HSPN) and to investigate the clinical usefulness of serum and/or urinary AIM levels as biomarkers for the disease activity. METHODS:Immun...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0951-1
更新日期:2020-05-14 00:00:00
abstract::The mucopolysaccharidoses (MPS) are inherited metabolic disorders resulting from the defective catabolism of glycosaminoglycans. In this report, we find that the stimulation of MPS connective tissue cells by the inflammatory cytokines causes enhanced secretion of several matrix-degrading metalloproteinases (MMPs). In ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000156510.96253.5A
更新日期:2005-05-01 00:00:00
abstract::Pulmonary hypoplasia has been associated with absent or hypoplastic pulmonary artery in four cases in humans. Despite these reports, the effects of decreased pulmonary arterial flow on fetal lung growth have not been adequately studied. This study defines the effects of left pulmonary artery (LPA) ligation on fetal lu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199002000-00004
更新日期:1990-02-01 00:00:00
abstract::We have shown that cerebellar injury in the premature infant is followed by significant growth impairment of the contralateral cerebral hemisphere evident as early as term adjusted age. In this study, we hypothesize that this remote growth restriction is region specific in the cerebrum. In a prospectively enrolled coh...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181e1d032
更新日期:2010-08-01 00:00:00
abstract::Genetic typing of serum transferrin was performed in a group of 88 extremely premature infants (gestation age less than 32 wk) and in a control group of 351 full-term infants, using isoelectric focusing technique on ultrathin layer of polyacrilamide gel. A major incidence of C2 type was found among the preterm infants...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198212000-00011
更新日期:1982-12-01 00:00:00
abstract::The previous biochemical evidence had suggested that glutaric aciduria type II (GA II) is due to deficient dehydrogenation of multiple short-chain acyl coenzyme A's (CoA's), bu the precise biochemical mechanism underlying this disease was unknown. We investigated substrate oxidation and in vitro activities of isovaler...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198012000-00013
更新日期:1980-12-01 00:00:00
abstract::Disorders affecting fetal growth are commonly associated with premature birth. IGFs and their binding proteins (IGFBPs) are potent regulators of fetal growth. In vitro evidence suggests that they regulate collagen turnover. Collagen turnover can be monitored by serum markers of type I collagen synthesis (PINP) and deg...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200104000-00008
更新日期:2001-04-01 00:00:00
abstract::Intratracheal lipopolysaccharide (LPS) causes acute inflammation and injurious mechanical ventilation results in pulmonary and systemic inflammation. We aimed to determine in preterm lungs if continuous positive airway pressure (CPAP) protects against pulmonary and systemic inflammation, compared with conventional mec...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318189487e
更新日期:2009-01-01 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::The effect of ingestion of uncooked cornstarch (2 g/kg body weight) in water, uncooked starch (1 g/kg) added to a meal, and glucose (2 g/kg) in water, was studied in eight patients with type IA glycogen storage disease (GSD) and one patient with type IB GSD. Blood glucose concentrations were determined at 30-min inter...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198409000-00015
更新日期:1984-09-01 00:00:00
abstract::Values of IGF-I after extraction, its binding proteins, and the high affinity GH-binding protein (BP) are not well established in pediatric patients with insulin-dependent diabetes mellitus (IDDM). We report data for IGF-I, IGFBP-1, and -3, and GHBP in 92 Spanish children with IDDM, separated according to pubertal sta...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199606000-00011
更新日期:1996-06-01 00:00:00
abstract::To assess the National Institutes of Health extramural activity in the area of pediatric nephrology research, the rate of submission of grant applications to the National Institutes of Health and available indicators of the quality of these applications were analyzed. This was accomplished by utilizing the grant appli...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198511000-00001
更新日期:1985-11-01 00:00:00
abstract::Plasma antioxidant status and total radical-trapping antioxidant potential (TRAP) of children (n = 24) with cystic fibrosis (CF) were compared with those of children (n = 21) without the disease. Children with CF were found to have elevated plasma concentrations of ascorbic acid (94.6 +/- 58.2 mumol/L), with respect t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199303000-00008
更新日期:1993-03-01 00:00:00
abstract::This study was conducted to investigate myocardial excitation-contraction coupling in the fetus of the diabetic rabbit (FDM). On day 14 of gestation, diabetes was induced in pregnant rabbits by alloxan injection. On day 28 of gestation, mechanical function of the fetal myocardium was determined in the isolated arteria...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198412000-00026
更新日期:1984-12-01 00:00:00
abstract::Inhibition of Pseudomonas cepacia (but not Pseudomonas aeruginosa) by beta-lactams was decreased in 5% CO2 in air compared with air alone. The effect of CO2 and pH (range, 6.0 to 8.0) on beta-lactam susceptibility, beta-lactamase expression, and outer membrane proteins was studied in isolates recovered from the sputum...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199403000-00003
更新日期:1994-03-01 00:00:00
abstract::The objective of this study was to investigate changes of cerebral oxygenation and hemodynamics related to opening of the bypass bridge during veno-arterial extracorporeal membrane oxygenation (ECMO). Ten newborn infants and 12 piglets were studied during opening of the bridge for 10 and 1 s, respectively. Changes in ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199507000-00022
更新日期:1995-07-01 00:00:00
abstract::A strongly positive tuberculin skin reaction (> 1.5 cm2) was observed during the acute phase of the illness in 11 children with Kawasaki disease (KD), but not in control pediatric patients with other febrile infections (41 patients) or diseases similar to KD (9 patients). The cutaneous sensitivity to intermediate stre...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199704000-00017
更新日期:1997-04-01 00:00:00
abstract::Seven essentially healthy term infants who received gentamicin starting on the 1st day of life for prolonged rupture of membranes and maternal fever were compared with nine healthy term infants to determine whether this drug induces alterations in the auditory pathway. The auditory pathway was studied on the 3rd day o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199009000-00017
更新日期:1990-09-01 00:00:00
abstract::Sodium deficiency is associated with decreased muscle growth and protein synthesis. We investigated the influence of diet-induced sodium deficiency on the rate and extent of compensatory growth of the right lung after left pneumonectomy in young rats of 83 +/- 1 g body weight. Starting 1 wk before surgery, all rats we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199011000-00007
更新日期:1990-11-01 00:00:00
abstract::The microchemical study of growth cartilage biopsies may improve the classification and the genetic advice of some types of growth disturbances and contribute to the understanding of biochemical defects. Small tibial growth cartilage biopsies were performed during orthopedic surgery in cases with achondroplasia, pseud...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197510000-00006
更新日期:1975-10-01 00:00:00
abstract::Previous studies in adults have shown that chronic pulmonary hypertension is associated with decreased endothelial nitric oxide synthase (eNOS) expression in pulmonary arteries. However, the role of decreased eNOS expression in persistent pulmonary hypertension of the newborn (PPHN) is unknown. We investigated the hyp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199809000-00012
更新日期:1998-09-01 00:00:00
abstract::The ontogenetic renal responsiveness to exogenous cortisol was examined in the chronically cannulated ovine fetus. The contribution of effects at proximal and distal tubule of the kidney were studied also. Cortisol (81.5 micrograms/h) was infused into immature ovine fetuses (mean gestational age -113.9 days) on five o...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198907000-00002
更新日期:1989-07-01 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is associated with expression and methylation of Fc gamma receptor genes. We characterized immunoglobulin A (IgA), IgE, IgG, and IgM receptor expression levels in KD. METHODS:Fc receptor expression levels were characterized using GeneChip Human Transcriptome Array 2.0 (HTA 2.0) with 18...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0707-y
更新日期:2019-12-09 00:00:00
abstract::Exposure of neonatal rats to > or = 95% O2 for 2 wk, a widely used model of oxidant/antioxidant interactions in neonatal lung injury, results in arrested lung growth without the dysplastic lesions observed in chronic human neonatal lung injury. To determine whether dysplastic lung cell growth would be seen at lesser O...
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: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::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