Abstract:
:This report deals with quantitative and qualitative investigations of alkaline phosphatase in two unrelated infants with the severe infantile form of hypophosphatasia. Both affected infants had no detectable leukocyte alkaline phosphatase activities and both sets of parents and one sibling tended to have low but variable leukocyte enzyme activities. Normal duodenal juice alkaline phosphatase activity was present in the one patient in whom it was measured and a wide range of variation in enzymic activity was observed in the stools. There was no significant difference in the stool enzyme activity between both patients with hypophosphatasia (42.01 +/- 9.77 U) and control infants (40.55 +/- 6.29 U). However, the heterozygous parents had values significantly lower than the control adults (2.10 +/- 0.47 as compared with 19.10 +/- 4.44 U). Intestinal bacteria did not contribute significantly to the stool alkaline phosphatase activity. Enzyme activity was present in the bile of one of the patients and nearly absent in that of the other. Three "inducers" of alkaline phosphatase were given to both patients (phenobarbital, vitamin A, and corticosteroid). No clinical improvement or rise in serum alkaline phosphatase activity was observed during the trial of therapy with these agents. However, a significant increase in the activity of serum acid phosphatase was demonstrated during the course of vitamin A administration, suggesting an in vivo action of vitamin A on the lysosomes through decreasing the stability of the membrane and releasing acid phosphatase to the serum. Quantitative determination of tissue alkaline phosphatases from autopsy tissues was highly variable: no activity was found in bone, lungs, or spleen of either infant; there was a discrepancy in liver and kidney alkaline phosphatase values (zero in one patient and present in the other) and activity was present in the intestinal mucosa of both. Qualitative analysis of kidney, liver, and intestinal alkaline phosphatase revealed some differences between the patients and control subjects in heat inactivation and phenylalanine inhibition (Table 3). Starch gel electrophoresis of the liver preparation of one patient disclosed a single band which had greater mobility than that of six control subjects matched for age. Liver extracts from a premature and from full term newborns showed two bands. The single band of the patient's liver enzyme corresponded to the newborn's fast moving component. In addition, the intestinal enzyme prepared from the same patient had an extra band when compared with age-matched control subjects.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Gorodischer R,Davidson RG,Mosovich LL,Yaffe SJdoi
10.1203/00006450-197607000-00004subject
Has Abstractpub_date
1976-07-01 00:00:00pages
650-6issue
7eissn
0031-3998issn
1530-0447journal_volume
10pub_type
杂志文章abstract::A 2-month-old white girl had severe liver disease (but without signs of hepatic necrosis, infection or cirrhosis), urinary cytomegalovirus, transient reduction of alpha 1-antitrypsin concentration and transient abnormal alpha 1-antitrypsin phenotype that were not present in her parents. Five serum specimens that were ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198203000-00006
更新日期:1982-03-01 00:00:00
abstract::To examine the levels and relationship of blood pressure and insulin during puberty, blood pressure and serum insulin were measured in 3596 subjects, aged 3-18 y, whose pubertal status was graded according to the Tanner classification. The same study protocol was repeated in two follow-up surveys 3 and 6 y later for 2...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1203/00006450-199702000-00019
更新日期:1997-02-01 00:00:00
abstract::Developmental differences in myocardial performance are known to exist. It is likely that the profile of protein isoforms present on the developing thin filament contributes to these observed differences. We have prepared thin filaments from developing and mature rat hearts by using an immunoprecipitation procedure de...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199109000-00006
更新日期:1991-09-01 00:00:00
abstract::The presence of high concentrations of sodium in the sweat of patients with cystic fibrosis is widely accepted by all investigators as one of the most important manifestations of the genetic defect. However, the simple means of sweat collection utilized for diagnostic purposes has been extended to the biochemical and ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198508000-00020
更新日期:1985-08-01 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::Keratinocyte growth factor (KGF, or fibroblast growth factor 7) was previously reported to enhance the synthesis of surfactant in alveolar type II cells. We investigated the possible interactions between KGF and a glucocorticoid, dexamethasone (Dex), on surfactant protein (SP) gene expression. In cultured fetal rat ty...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000047840.77635.AE
更新日期:2003-02-01 00:00:00
abstract:BACKGROUND:The pathogenesis of BPD includes inflammation and oxidative stress in the immature lung. Corticosteroids improve respiratory status and outcome, but the optimal treatment regimen for benefit with low systemic effects is uncertain. METHODS:In a pilot dose escalation trial, we administered ≤5 daily doses of b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01343-z
更新日期:2021-01-19 00:00:00
abstract::Atherosclerosis originates in childhood and adolescence. The goal of this review is to highlight how exercise and physical activity during childhood and adolescence, critical periods of growth and development, can prevent adult cardiovascular disease (CVD), particularly through molecular mechanisms of monocytes, a key...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-019-0581-7
更新日期:2020-01-01 00:00:00
abstract::Infants with sudden infant death syndrome have higher hypoxanthine (Hx) concentrations in their vitreous humor than infants with respiratory distress syndrome and other infant control populations. However, previous research on piglets and pigs applying continuous hypoxemia has not been able to reproduce the concentrat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199312000-00013
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Intrauterine growth restriction (IUGR) has been linked to heart disease in adulthood. Hence the IUGR heart is likely to be vulnerable to diabetic heart disease. The aim of this study was to examine the effect of induction of type 1 diabetes on myocardial collagen deposition and cardiac function in adult rats...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.94
更新日期:2012-10-01 00:00:00
abstract::Newborn rats exposed to 60% O(2) for 14 d demonstrated a bronchopulmonary dysplasia-like lung morphology and pulmonary hypertension. A 21-aminosteroid antioxidant, U74389G, attenuated both pulmonary hypertension and macrophage accumulation in the O(2)-exposed lungs. To determine whether macrophage accumulation played ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200108000-00003
更新日期:2001-08-01 00:00:00
abstract::We measured body composition, basal metabolic rate (BMR), and total energy expenditure in 28 nonobese and 35 obese adolescents aged 12-18 y using indirect calorimetry and the doubly labeled water method. BMR was highly correlated with fat-free mass in both the nonobese and obese groups (r = 0.77 and 0.84, respectively...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199002000-00022
更新日期:1990-02-01 00:00:00
abstract::The ciliated, mucus-secreting urn cell complex (UCC) is found swimming in the coelomic cavity of the marine invertebrate Sipunculus nudus. This cell complex, which can be maintained in suspension cultures, responds to various stimuli by hypersecreting mucus in the form of a cohesive mucus "tail." This tail can be meas...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198011000-00022
更新日期:1980-11-01 00:00:00
abstract::Previous studies have reported differences in muscle function and metabolism between patients with cystic fibrosis (CF) and healthy controls (HC), but it is currently unknown whether these abnormalities are specific to CF or also seen in other airway diseases. In this study, we used magnetic resonance spectroscopy (MR...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181fff35f
更新日期:2011-01-01 00:00:00
abstract::Tonsillectomy and adenoidectomy (T&A) is a frequent surgical procedure in children with obstructive sleep apnea (OSA). Many symptomatic children who do not fulfill the currently recommended criteria for T&A may benefit from topical intranasal steroid therapy. However, the expression of glucocorticoid receptor (GCR) ex...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000150722.34561.E6
更新日期:2005-02-01 00:00:00
abstract::The hypoxanthine concentration in plasma was found to be a sensitive parameter of hypoxia of the fetus and the newborn infant. The plasma level of hypoxanthine in the umbilical cord in 29 newborn infants with normal delivery varied between 0 and 11.0 mumol/liter with a mean of 5.8 mumol/liter, SD 3.0 mumol/liter. Comp...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197504000-00002
更新日期:1975-04-01 00:00:00
abstract::To delineate the role of growth hormone (GH) in the development and function of the immune system, immunological parameters including quantitative immunoglobulins, T and B lymphocytes, phytohemagglutinin lymphoproliferative response and delayed hypersensitivity skin tests were studied in nine GH-deficient children pri...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198503000-00009
更新日期:1985-03-01 00:00:00
abstract::The influence of maternal stress during pregnancy on the postpartum iron status and immune maturation of infants was investigated in a nonhuman primate model. Forty infant rhesus monkeys were generated from two types of disturbed pregnancies, early or late gestation stress, and compared with 24 undisturbed controls. P...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318045be53
更新日期:2007-05-01 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::We determined the concentrations of copper, the activities of ceruloplasmin and peptidylglycine alpha-amidating monooxygenase (PAM), and the stimulation index of PAM by the in vitro addition of copper in plasma samples obtained from three male patients with occipital horns and a milder Menkes disease phenotype, having...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199712000-00023
更新日期:1997-12-01 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::This work examines the dynamic surface pressure-area behavior of films of unconjugated bilirubin spread from chloroform solution at 22 degrees C on 0.15 M NaCl and buffered phosphate subphases. Film behavior is examined at pH 5.5, 7.4 and 8.0. The interactions of bilirubin in mixed films with dipalmitoyl phosphatidylc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198202000-00011
更新日期:1982-02-01 00:00:00
abstract::Necrotizing enterocolitis (NEC) remains among the most common and devastating diseases in neonates. Despite advances in neonatal clinical care, specific treatment strategies and diagnostic modalities remain lacking. As a result, morbidity and mortality remain high. Improved understanding of the pathogenesis of NEC has...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-020-1077-1
更新日期:2020-08-01 00:00:00
abstract::Antigenic analysis of neuroblastoma cells was performed by autologous typing and indirect immunofluorescent test combined with absorption tests. Serum of a patient with neuroblastoma before treatment showed weak reactivity with cultured autologous neuroblastoma cells, while serum obtained from the same patient 3 month...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198610000-00001
更新日期:1986-10-01 00:00:00
abstract::The IQ's of Jamaican boys aged 6-10 were associated significantly with the presence or absence of severe malnutrition in infancy, with height at time of IQ testing, and with a measure of the boys' social background. A multiple correlation coefficient of 0.674 was obtained between IQ and the three factors. Social backg...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197601000-00011
更新日期:1976-01-01 00:00:00
abstract:BACKGROUND:The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role. METHODS:Prospective study: 109 rachitic children completed a 6-mo s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.222
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Sepsis is an important cause of neonatal morbidity and mortality worldwide. Diagnosis and treatment of neonatal sepsis relies on clinical judgment and interpretation of nonspecific laboratory tests. In a prospective cohort, we measured inflammatory cytokines as a potential biomarker for neonatal sepsis. MET...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.267
更新日期:2017-04-01 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::The ability of erythrocytes from newborn babies and adults to maintain reduced glutathione levels during oxidative stress was studied. In vitro incubation of erythrocytes with H2O2, with or without inactivation of catalase, caused a rapid depletion of reduced glutathione (GSH) and concomitant accumulation of oxidized ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199210000-00006
更新日期:1992-10-01 00:00:00
abstract::Studies using stable isotopically labeled glucose and palmitate as precursors of pulmonary surfactant synthesis have demonstrated slow surfactant turnover in premature infants with respiratory distress syndrome (RDS). However, only limited data about surfactant turnover are available for term infants. Because acetate ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000075084.56255.E0
更新日期:2003-08-01 00:00:00