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. Most joints were extremely lax, easily subluxated, with joint capsules that were swollen and fluctuant. The dog was alert and had apparently normal pain perception. At 13 months of age, there was radiographic evidence of extensive skeletal disease including bilateral femoral head luxation, abnormalities in the shape and density of the carpal and tarsal bones, radiolucent lesions of the epiphyseal regions of most long bones, and cervical vertebral dysplasia and platyspondylia. The electrophoretic pattern of precipitated glycosaminoglycans indicated a predominance of chondroitin sulfate. The animal died suddenly from gastric dilatation. There was generalized hepatomegaly, thickening of the atrioventricular heart valves, and generalized polyarthropathy. Vacuolated cytoplasm was observed in hepatocytes, keratocytes, fibroblasts, chondrocytes and cells of the synovial membrane, retinal pigment epithelium, and cardiac valves. Neurons had cytoplasmic vacuoles. Electron microscopy demonstrated membrane-bound cytoplasmic inclusions in polymorphonuclear leukocytes, hepatocytes, synovium, heart valves and spleen. The activities of 12 lysosomal hydrolases were determined in liver from the affected and control dogs: beta-glucuronidase (EC 3.2.1.31), beta-hexosaminidases A and B (EC 3.2.1.30), alpha-hexosaminidase (EC 3.2.1.-), alpha-L-iduronidase (EC 3.2.1.76), alpha-galactosidase A (EC 3.2.1.22), beta-galactosidase (EC 3.2.1.23), arylsulfatases A and B (EC 3.1.6.1), acid alpha-mannosidase (EC 3.2.1.24), acid beta-mannosidase (EC 3.2.1.25), and N-acetyl-D-galactosamine-6-sulfate sulfatase (EC 3.1.6.-).(ABSTRACT TRUNCATED AT 250 WORDS)
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Haskins ME,Desnick RJ,DiFerrante N,Jezyk PF,Patterson DFdoi
10.1203/00006450-198410000-00014subject
Has Abstractpub_date
1984-10-01 00:00:00pages
980-4issue
10eissn
0031-3998issn
1530-0447journal_volume
18pub_type
杂志文章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::Time-corrected measurements of transplacental and transamniotic electrical potentials were made in potassium-deficient rats on the 20th day of gestation. These averaged 6.4 mV and 2.0 mV, respectively, in the deficient group as compared with 14.3 and 18.4, respectively, in the controls. The measured maternal potassium...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197810000-00005
更新日期:1978-10-01 00:00:00
abstract::To date, many mutations, including intronic nucleotide changes, in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) have been reported in Gitelman's syndrome (GS) patients. However, it has not been clarified whether intronic nucleotide changes affect mRNA content. Since mRNA analys...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318031935a
更新日期:2007-04-01 00:00:00
abstract::Sleep organization of infants may be influenced by differences in nutrient intakes from human milk and formula. Because sleep/awake and sleep stage patterns affect energy expenditure, we hypothesized that differences in sleep organization between breast-fed and formula-fed infants might account in part for differences...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199211000-00003
更新日期:1992-11-01 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::Early-life stress has been shown to destabilize the homeostatic synaptic plasticity and compromise the developing brain to the later encountered insults. This study would determine the long-term epileptogenic effect of neonatal isolation (NI) on early-life seizure. There were five groups: normal rearing (NR) rats; NI ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181b337d2
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:To systematically evaluate short-term efficacy of UCM versus other interventions in preterm infants. METHODS:Six engines were searched until February 2020 for randomized controlled trials (RCTs) assessing UCM versus immediate cord clamping (ICC), delayed cord clamping (DCC), or no intervention. Primary outc...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-020-0902-x
更新日期:2020-04-21 00:00:00
abstract::This study was undertaken to determine whether simultaneous activation of clotting, fibrinolysis, and kinin-kallikrein is associated with disease severity in preterm infants with neonatal respiratory distress syndrome (RDS), during the first 5 d of life. In the infants with severe RDS, we found activation of clotting,...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199701000-00019
更新日期:1997-01-01 00:00:00
abstract::Platelet-activating factor (PAF) is a proinflammatory phospholipid mediator implicated in necrotizing enterocolitis. Regulation of PAF-acetylhydrolase (AH), the enzyme degrading PAF, is poorly understood. In this study we found that administration of a dose of PAF (1.5 microg/kg, i.v.), which does not cause gross inte...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199711000-00008
更新日期:1997-11-01 00:00:00
abstract::We banded the trachea of 4-wk-old male rats and studied lung growth, lung morphometry, and static pulmonary mechanics 4 wk later. We compared the experimental animals to sham-operated male littermates of the same age, 8-wk-old normal male littermates, and weight-matched rats of a younger age. Tracheal banded animals w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198103000-00014
更新日期:1981-03-01 00:00:00
abstract::Essential fatty acid deficiency (EFAD) occurs in infants fed fat-free mixtures of glucose and amino acids. Although infusion of lipid emulsion rapidly reverses clinical symptoms, little is known about effects on tissue fatty acids. To study this question, five groups (n = 4/group) of neonatal pigs were studied. Three ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198412000-00027
更新日期:1984-12-01 00:00:00
abstract:BACKGROUND:Risk factors for diastolic dysfunction in hypertrophic cardiomyopathy (HCM) are poorly understood. We investigated the association of variants in hypoxia-response genes with phenotype severity in pediatric HCM. METHODS:A total of 80 unrelated patients <21 y and 14 related members from eight families with HC...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.126
更新日期:2012-12-01 00:00:00
abstract::Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, an...
journal_title:Pediatric research
pub_type: 杂志文章,多中心研究
doi:10.1203/PDR.0b013e3181841eca
更新日期:2008-11-01 00:00:00
abstract::Angiotensin II-forming chymase is expressed in the pulmonary arteries of the monocrotaline-induced pulmonary hypertensive rats, but its actual role is unclear. We studied chymase-dependent angiotensin II formation in the pulmonary arteries of the monocrotaline-induced pulmonary hypertensive rats and observed the effec...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000219431.45075.d9
更新日期:2006-07-01 00:00:00
abstract::Genetic factors cannot explain the recent rapid increase in the incidence of atopic diseases. The phenomenon has been explained by environmental factors, and there are data for and against the hypothesis that a decline in the pressure of microbial stimulation early in life could be behind the allergy epidemic. Changes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200207000-00004
更新日期:2002-07-01 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:BACKGROUND:The aim was to identify susceptibility alleles for infantile hypertrophic pyloric stenosis (IHPS) in a pedigree previously linked to IHPS5 on chromosome 16q24. METHODS:We screened the positional and functional candidate gene FOXF1 by Sanger sequencing in a single affected individual. All family members for ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.244
更新日期:2017-04-01 00:00:00
abstract::We report reference values for osteocalcin and bone and liver alkaline phosphatase (ALP) isoforms in serum from 114 healthy children and adolescents, age 7-16 y. The bone and liver ALP isoforms were measured by high performance liquid chromatography (HPLC). Six ALP isoforms were separated and quantified in all samples...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199512000-00021
更新日期:1995-12-01 00:00:00
abstract::Argininosuccinate synthetase and argininosuccinate lyase catalyze the conversion of citrulline to arginine in kidney. Immunohistochemical staining of mouse kidney sections with antibodies to these two enzymes, compared with the staining patterns of known markers for proximal tubules, demonstrated that these enzymes ar...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199102000-00010
更新日期:1991-02-01 00:00:00
abstract::High speed cinemicrographs reveal that the ciliary configuration and beat pattern of rabbit tracheal cilia differ significantly from classid descriptions, although the basic forward and return pattern is still observed. The tracheal cilia are short and stout (about 6 mum in length) and are of a slightly bent original ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197602000-00014
更新日期:1976-02-01 00:00:00
abstract::Congenital Central Hypoventilation Syndrome (CCHS) patients show partial retention of peripheral chemoreception despite impaired ventilatory responses to CO2 and hypoxia. The condition allows examination of central responses to hyperoxia, which minimizes afferent traffic from peripheral chemoreceptors. We used functio...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000155763.93819.46
更新日期:2005-04-01 00:00:00
abstract::The purpose of this study was to investigate the effect of constant light in a neonatal care unit on the development of the sleep-and-wakefulness rhythm in preterm infants. Two groups of infants (57 preterm infants without other complications and 58 healthy term infants) were prospectively studied over infancy by a da...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199302000-00014
更新日期:1993-02-01 00:00:00
abstract::Neonatal group B streptococcal (GBS) sepsis produces pulmonary arterial hypertension and hypoxemia that are preventable by pretreatment with the selective thromboxane A2 synthase inhibitor, dazmegrel. In the present experiment we administered dazmegrel (8 mg/kg) 2 h after the initiation of a 2 1/2 h infusion of 5 X 10...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198804000-00003
更新日期:1988-04-01 00:00:00
abstract::Fifty patients with haemophilia B, belonging to 29 kindreds, were investigated with a highly sensitive immunoradiometric assay based on a homologous antibody to factor IX. The assay measures factor IX antigen (f.IX:Ag) in plasma down to 0.025 U/dl. Seventeen of 18 investigated patients with severe haemophilia B had ve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198203000-00019
更新日期:1982-03-01 00:00:00
abstract::Human GH is encoded by the GH-1 gene which belongs to the GH gene cluster encompassing a distance of about 65 kb on the long arm of chromosome 17. Familial isolated growth hormone deficiency (IGHD) is associated with at least four Mendelian disorders. These include two forms that have autosomal recessive inheritance (...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199801000-00016
更新日期:1998-01-01 00:00:00
abstract::The gastrointestinal (GI) barrier function is immature in the preterm neonate and might thus facilitate translocation of enteric bacteria and gut-derived septicemia. Circumstantial evidence suggests that bacterial uptake from the intestine may be further enhanced by an alteration of the host nutritional status. To tes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199603000-00007
更新日期:1996-03-01 00:00:00
abstract::Infants dying with bronchopulmonary dysplasia (BPD) demonstrate increased numbers of pulmonary neuroendocrine cells (PNEC). These infants also possess altered airway epithelial and smooth muscle dimensions reminiscent of oxygen-exposed animals. Because the pathogenesis of BPD involves oxygen toxicity, we hypothesized ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199710000-00020
更新日期:1997-10-01 00:00:00
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 inh...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-199809000-00001
更新日期:1998-09-01 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::Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199101000-00012
更新日期:1991-01-01 00:00:00