Abstract:
:Mucolipidosis 4 (ML4) is an autosomal recessive disorder with both lipid and mucopolysaccharide storage. The disease is characterized by severe visual impairment and psychomotor retardation. In our effort to find a phenotypic marker for ML4 fibroblasts, living cells were stained with fluorescent compounds. The staining pattern in cells was complicated by autofluorescence. A careful study revealed that auto-fluorescence by itself was a sufficient marker for viable ML4 fibroblasts. ML4 cells in cultures obtained from four unrelated patients contain auto-fluorescent material. Auto-fluorescence was noted over a wide range of excitation wavelengths from approximately 365 to approximately 546 nm. The most intense fluorescence was observed in the lower wave-length range. Cultured fibroblasts from normal individuals or obligate ML4 heterozygotes did not fluoresce under adequately controlled culture conditions. High passage number of inadequate feeding caused a small proportion of fibroblasts obtained from normal individuals to auto-fluoresce. The auto-fluorescent material co-localized with phase-dense inclusion bodies, shown to be lysosomes by staining with LAMP-ab. These findings imply that fluorescence may relate to the specific compound(s) stored in the lysosomes. In a comparative study, neuronal ceroid lipofuscinosis fibroblasts were also fluorescent. Fibroblasts from other diseases such as Gaucher disease and glycogenosis type 2 did not show any fluorescence. These findings are currently used in our functional cloning strategy for determining the gene involved in ML4.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Goldin E,Blanchette-Mackie EJ,Dwyer NK,Pentchev PG,Brady ROdoi
10.1203/00006450-199506000-00003subject
Has Abstractpub_date
1995-06-01 00:00:00pages
687-92issue
6eissn
0031-3998issn
1530-0447journal_volume
37pub_type
杂志文章abstract::Data are scant regarding the development of cerebrovascular autoregulation in intrauterine growth-restricted (IUGR) newborns. We tested the hypothesis that IUGR improves the ability of neonates to withstand critical periods of gradual hemorrhagic hypotension by optimizing cerebrovascular autoregulation. Studies were c...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000139425.94975.77
更新日期:2004-10-01 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::Carlo Agostoni, MD, and Kwang Sik Kim, MD, are the Guest Editors for this annual review issue on Nutrition and the Microbiome. Dr Agostoni is a Professor of Pediatrics at the Department of Clinical Sciences and Community Health, University of Milan, within the Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, ...
journal_title:Pediatric research
pub_type: 历史文章
doi:10.1038/pr.2014.195
更新日期:2015-01-01 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::An increase in polymorphonuclear leukocytes (PMNs) and proinflammatory chemokines, such as IL-8 and macrophage inflammatory protein-1 alpha (MIP), are found in the airways during early stages of bronchopulmonary dysplasia. We determined whether IL-10 produces a dose-related inhibition of proinflammatory chemokine rele...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000077471.36217.6E
更新日期:2003-09-01 00:00:00
abstract::All-trans retinoic acid (ATRA) stimulates platelet-derived growth factor (PDGF)-A expression and enhances alveolarization in rat lungs. On d 16 of gestation, pregnant Sprague-Dawley rats were randomly assigned to either a retinoic acid group (intragastric ATRA at 10 mg/kg body weight) or a vehicle group. We punctured ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31815685b9
更新日期:2007-11-01 00:00:00
abstract::We report a study on the effect of herpes simplex virus 1 (HSV-1) infection on apoptosis of neutrophils from both adults and neonates and present evidence showing that HSV-1 enhances apoptosis in neonatal, but not adult, neutrophils. HSV-1 enhanced the expression of both Fas and Fas ligand on the surface of neonatal n...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000191816.57544.b4
更新日期:2006-01-01 00:00:00
abstract::Thyrotropin releasing hormone (TRH) and its precursor peptide pGlu-His-Pro-Gly (TRH-Gly) were measured in serum and in a variety of tissues of developing rats using specific RIA. TRH and TRH-Gly immunoreactivities were detected in most tissues. TRH concentrations were highest in pancreas, in which mean (+/- SEM) TRH c...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199107000-00006
更新日期:1991-07-01 00:00:00
abstract::The etiology of the tall stature almost invariably seen in homocystinuric patients is not known. The effect of metabolic control and the role of the GH-IGF system on growth were investigated in 10 patients with homocystinuria. There was a direct correlation between the plasma free homocyst(e)ine and growth velocity SD...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200106000-00014
更新日期:2001-06-01 00:00:00
abstract:BACKGROUND:The aim of this study was to examine in detail levels and patterns of physical activity in preschool children and the effects of gender and BMI on this activity. METHODS:Two hundred and fifty-three children aged 5 y participating in the Copenhagen Prospective Studies on Asthma in Childhood wore an accelerom...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.99
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:Scoring tools used to quantify withdrawal in infants with neonatal abstinence syndrome (NAS) are often confounded by subjective measurements. This study assessed salivary cortisol as an objective biomarker of withdrawal severity in opioid-exposed newborns. METHODS:A prospective study was conducted in 25 ful...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0601-7
更新日期:2020-05-01 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::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::Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199908000-00017
更新日期:1999-08-01 00:00:00
abstract::Continuous EEG monitoring has not been used widely in neonatal intensive care, especially in the care of extremely premature infants, probably in part because of a lack of a reliable quantitative method. The purpose of this study was to quantify the EEG of the very premature infants just after birth by using spectral ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000153868.77623.43
更新日期:2005-03-01 00:00:00
abstract::Children with cystic fibrosis excreted elevated urinary levels of all three polyamines--putrescine, spermidine, and spermine. Heterozygote parents excreted intermediate concentrations of the polyamines, but not levels significantly different from levels in normal controls. Patients with cystic fibrosis who were admini...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197910000-00011
更新日期:1979-10-01 00:00:00
abstract::We recently demonstrated that recombinant hGH exacerbates renal functional and structural injury in chronic puromycin aminonucleoside (PAN) nephropathy, an experimental model of glomerular disease. Therefore, we examined whether recombinant human (rh) IGF-I is a safer alternative for the treatment of growth failure in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199601000-00002
更新日期:1996-01-01 00:00:00
abstract::Inhibition of IGF-I action by circulating IGF-I receptor autoantibodies is a potential mechanism of IGF-I resistance in growing children. To define the prevalence of IGF-I receptor antibodies in short-statured children, we have examined serum and plasma samples from a well-characterized group of 34 short, prepubertal,...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199210000-00016
更新日期:1992-10-01 00:00:00
abstract::The newborn immune system differs quantitatively and functionally from that of adults. Development of the immune system has important implications for childhood diseases. The immaturity of the immune system in the first years of life may contribute to failure of tolerance induction and in the development of allergic d...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-199609000-00001
更新日期:1996-09-01 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::BackgroundPost-hemorrhagic ventricular dilatation (PHVD) is predictive of mortality and morbidity among very-low-birth-weight preterm infants. Impaired cerebral blood flow (CBF) due to elevated intracranial pressure (ICP) is believed to be a contributing factor.MethodsA hyperspectral near-infrared spectroscopy (NIRS) ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.131
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND:Encephalopathic neonates undergoing therapeutic hypothermia have increased risk for coagulopathy secondary to perinatal asphyxia and effects of cooling on the coagulation enzyme cascade. Thromboelastography (TEG) allows for a comprehensive assessment of coagulation that can be regulated for temperature. TEG ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.19
更新日期:2014-05-01 00:00:00
abstract::We studied the effect of maternal concentration and mode of administration on transfer rate of TSH-releasing hormone (TRH) in an in vitro model of dually perfused isolated lobule of human term placenta. Varying concentrations (4-40 microg dL(-1)) of TRH were added either to the open maternal circulation to mimic an in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199705000-00012
更新日期:1997-05-01 00:00:00
abstract::Matrix metalloproteinases (MMP) are likely effectors of normal lung development, especially branching morphogenesis, angiogenesis, and extracellular matrix degradation. Because hyperoxia exposure (>95% O(2)) from d 4 to 14 in newborn rat pups leads to arrest of alveolarization and mimics newborn chronic lung disease, ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000130658.45564.1F
更新日期:2004-07-01 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::Previous studies suggest that the endotoxin lipopolysaccharide (LPS) may have dual effects on brain damage induced by hypoxia-ischemia (HI) in 7-d-old rats, depending on the exposure paradigm. Although a 4-h interval between LPS administration and HI results in sensitization to HI brain injury, tolerance is observed w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000191140.87314.ce
更新日期:2006-01-01 00:00:00
abstract::The mitochondrial trifunctional protein (TFP) is a multienzyme complex of the beta-oxidation cycle. Human TFP is an octamer composed of four alpha-subunits harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase and four beta-subunits encoding long-chain 3-ketoacyl-CoA thiolase. Mutat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000103931.80055.06
更新日期:2004-02-01 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 primary manifestations of Pompe disease are muscle weakness and cardiomyopathy. Although accumulation of glycogen has also been seen in the nervous system in patients, the significance of brain involvement in infantile-onset Pompe disease is not clear. In this study, brain development in five cases of infantile-on...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000233014.84318.4e
更新日期:2006-09-01 00:00:00
abstract::The immunological competence of neonatal rabbits inoculated intradermally with Treponema pallidum was examined. Both cellular responses and the production of humoral antibody to specific T. pallidum antigens and to nonspecific antigens or mitogens were investigated. In blast transformation assays, splenic and poplitea...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198410000-00013
更新日期:1984-10-01 00:00:00