Abstract:
:A four-year-old Israeli Arab boy was found to have glycogen accumulation in both liver and muscle without clinical symptoms. Liver phosphorylase kinase (PK) activity was 20% of normal, resulting in undetectable activity of phosphorylase a. Muscle PK activity was about 25% of normal, resulting in a marked decrease of phosphorylase a activity. Two sisters showed a similar pattern, whereas one brother had normal PK activity. The patient's liver protein kinase activity was normal Addition of exogenous protein kinase did not affect PK activity, whereas exogenous PK restored phosphorylase activity to normal. These findings indicate that these patients are affected by a rare variant of PK deficiency, which involves both muscle and liver and which apparently is not sex linked. It is possible that this defect represents an unusual mutation of a subunit of the phosphorylase kinase enzyme.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Bashan N,Iancu TC,Lerner A,Fraser D,Potashnik R,Moses SWdoi
10.1203/00006450-198104000-00002subject
Has Abstractpub_date
1981-04-01 00:00:00pages
299-303issue
4 Pt 1eissn
0031-3998issn
1530-0447journal_volume
15pub_type
杂志文章abstract::The relationship between cerebral blood flow (CBF) and the evolution of brain edema was investigated in an experimental model of perinatal hypoxic-ischemic brain damage. Seven-d postnatal rats were subjected to unilateral common carotid artery ligation followed by 3 h of hypoxia with 8% oxygen at 37 degrees C. This in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199005000-00007
更新日期:1990-05-01 00:00:00
abstract:BACKGROUND:Secreted frizzled-related protein 5 (SFRP5) is an adipokine protecting against obesity-related insulin resistance and diabetes. SFRP5 binds to wingless type mouse mammary tumor virus (MMTV) integration site family member 5A (WNT5A) to improve insulin sensitivity. We performed the first study of SFRP5 and WNT...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.29
更新日期:2014-06-01 00:00:00
abstract::Many trials of mesenchymal stem cells (MSCs) have been published in the past 5-6 y. MSCs inhibit T-cell alloreactivity in vitro by soluble factors and direct cell-to-cell contact. They are safe to infuse in humans with no acute toxicity and no ectopic tissue formation. Promising results of MSC infusion for graft-vs.-h...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2011.56
更新日期:2012-04-01 00:00:00
abstract::We have previously shown that generation of superoxide anion occurs in cerebral cortex during asphyxia/reventilation in newborn pigs and that a high dose of indomethacin (5 mg/kg i.v.) abolishes superoxide anion production. The purposes of this study were 1) to determine whether the generation of superoxide anion occu...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199309000-00025
更新日期:1993-09-01 00:00:00
abstract::Murine hybridoma antibodies directed against the capsule and O-side chain determinants of the Escherichia coli strain Bort (018ac:K1:H7) were evaluated for their ability to enhance bactericidal activity of cord blood against K1 E. coli strains possessing O antigens common in neonatal E. coli infection, i.e. 018, 07, a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199012000-00025
更新日期:1990-12-01 00:00:00
abstract:BACKGROUND:Maternal thyroid deficiency can increase Rho-kinase procontractile influence in arteries of 2-week-old progeny. Here we hypothesized that augmented role of Rho-kinase persists in arteries from adult progeny of hypothyroid rats. METHODS:Dams were treated with 6-propyl-2-thiouracil (PTU) in drinking water (0....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0029-5
更新日期:2018-07-01 00:00:00
abstract::Fetal lung cyclic AMP phosphodiesterase, cyclic AMP, phosphatidyl choline, and incorporation of precursors into phosphatidyl choline were measured in rabbits after maternal administration of hydrocortisone phosphate and aminophylline. Both agents inhibited lung phosphodiesterase activity and augmented cyclic AMP conce...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197606000-00011
更新日期:1976-06-01 00:00:00
abstract::The history of Pediatric Infectious Diseases closely parallels the history of Pediatrics at least until the last century, because historically infections comprised the major causes of childhood morbidity and mortality, as they still do in the developing world. This history reviews developments in the field through the...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章
doi:10.1203/01.PDR.0000101756.93542.09
更新日期:2004-01-01 00:00:00
abstract::A number of neuromuscular diseases are associated with molecular defects in the mitochondrial DNA (mtDNA). These include: 1) a missense mutation at nucleotide 11778 in the mtDNA of Leber's hereditary optic neuropathy patients; 2) a heterogeneous array of deletions in the mtDNA of ocular myopathy patients; and 3) small...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199011000-00023
更新日期:1990-11-01 00:00:00
abstract::Serum diamine oxidase (DAO) activities were measured in 20 control patients and in 24 patients with gastroenteritis. Results (mean +/- SE) were as follows: 1) control patients (n = 20), 36.2 +/- 5.7 pmol h-1 ml-1; 2) gastroenteritis (acute phase) (n = 11), 31 +/- 4.9 pmol h-1 ml-1; 3) gastroenteritis (healing phase) (...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198501000-00008
更新日期:1985-01-01 00:00:00
abstract::Liposomes can be used for the delivery of drugs in cancer chemotherapy. After i.v. injection liposomes are to a large extent taken up by the mononuclear phagocytic system (MPS). When treating diseases in the MPS, such as the histiocytic syndromes, this property is of potential value for drug targeting and may lead to ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199507000-00002
更新日期:1995-07-01 00:00:00
abstract::Cerebral blood flow (CBF) was measured by means of Celabeled microspheres in infant (20-day-old) and adult (3-month-old) rats, anesthetised with Na-5-ethyl-5-(1-methylpropyl)2-thiobarbituric acid. Cerebral arteriovenous differences of acetoacetate, D-beta-hydroxybutyrate, glucose, lactate, and oxygen and brain DNA con...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197611000-00002
更新日期:1976-11-01 00:00:00
abstract::We studied the effects of exogenously administered adrenomedullin on fetal pulmonary arterial blood flow in near-term fetal sheep. The hemodynamic effects of a single injection of adrenomedullin into the left pulmonary artery were compared with those of acetylcholine; the effects of repeated injections of adrenomedull...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199704000-00007
更新日期:1997-04-01 00:00:00
abstract::Chloroform:methanol extracts of bovine pulmonary surfactant contain small hydrophobic proteins, designated surfactant-associated apoproteins 6,000 (SAP-6), but do not contain the major surfactant-associated 35,000-dalton glycoprotein, designated SAP-35. Examination of lipid extract surfactant on sodium dodecylsulfate-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198801000-00006
更新日期:1988-01-01 00:00:00
abstract:BACKGROUND:Kawasaki disease was well known for coronary artery abnormalities with few reports of incidence of acute kidney injury (AKI). Our aim was to identify the rate of AKI in patients with Kawasaki disease and its associated factors. METHODS:All patients with Kawasaki disease admitted to a medical center from Feb...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.81
更新日期:2016-08-01 00:00:00
abstract::Indomethacin, because of its prostaglandin inhibition, may cause constriction of the ductus arteriosus and affect the pulmonary circulation. To study this possibility, we gave indomethacin daily by gavage to two groups of pregnant rats from the 17th day of pregnancy through delivery (group 1, 2 mg/kg/day; group 2, 4 m...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198102000-00013
更新日期:1981-02-01 00:00:00
abstract::This prospective randomized pilot study aimed to test the hypotheses that partial liquid ventilation combined with a high positive end-expiratory pressure (PEEP) and a moderate tidal volume results in improved gas exchange and lung mechanics without negative hemodynamic influences compared with conventional mechanical...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200208000-00015
更新日期:2002-08-01 00:00:00
abstract::Chronically catheterized fetal lambs (n = 11, gestational age 111-139 days) and neonatal lambs (n = 20, postnatal age 4-30 days) were studied to explore during development the relationship of renal hemodynamic responses during hypoxemia to plasma epinephrine concentration (E), plasma norepinephrine concentration (NE),...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198802000-00004
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 lipid profile, total cholesterol, triglycerides, and lipoproteins (beta-, pre-beta-, and alpha-) of cord blood, is presented for 419 black and white infants (94% of the eligible population) born during an 18-month period in Bogalusa, Louisiana. At birth, white neonates of both sexes had higher average levels than ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197808000-00011
更新日期:1978-08-01 00:00:00
abstract::Lung distensibility and airway mechanics were evaluated in 24 asthmatic children and adolescents, ages between 7 and 21 years, by quasi-static pressure-volume curves and by the static recoil-lung conductance relationship. The measurements were obtained by the step-wise inflation technique and the pressure-volume curve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198411000-00020
更新日期:1984-11-01 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::After an initial postnatal diuresis, neonates are in positive sodium balance. Because atrial natriuretic peptide (ANP) contributes to sodium homeostasis, this study was designed to evaluate the maturational effects of increased dietary sodium intake on cardiac ANP production. Preweaned Sprague-Dawley rat pups were art...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199503000-00010
更新日期:1995-03-01 00:00:00
abstract::Newborn human infants, particularly those born prematurely, are susceptible to infection with a variety of microorganisms. We questioned whether limitations in the T cell repertoire contribute to the neonatal immunocompromised state. To describe developmental changes of the T cell repertoire, cDNA segments correspondi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199803000-00015
更新日期:1998-03-01 00:00:00
abstract::Recent studies have shown 1,25(OH)2D3 receptor-mediated modulation of leukocyte proliferation, differentiation, and function. We examined the phagocytosis and killing of microorganisms by neutrophils and monocytes from five patients of three families with hereditary resistance to 1,25(OH)2D3. Phagocytosis of microorga...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198903000-00012
更新日期:1989-03-01 00:00:00
abstract::The effect of increased red blood cell aggregation on uteroplacental blood flow was studied in 11 awake, late-pregnant guinea pigs. The aggregation of the red cells was increased by administering high molecular weight dextran (HMWD) to the previously hemoconcentrated animal. The purpose of the hemoconcentration before...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199201000-00017
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:Cognitive impairment has been documented in adult diabetes but is unclear in pediatric diabetes. No study had been conducted to explore the relationship between attention-deficit/hyperactivity disorder (ADHD) and diabetes. Using a population-based data set, we aimed to examine the association between ADHD an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.5
更新日期:2013-04-01 00:00:00
abstract::The activity of lysozyme in saliva and serum was determined in 51 patients with cystic fibrosis. Measurements were made on two occasions at least 1 month apart and compared to those of 25 normal healthy individuals of the same ages, sex, and race. The mean serum lysozyme activity of normal individuals was 5.8 microgra...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198210000-00014
更新日期:1982-10-01 00:00:00
abstract::We have previously discovered that the adult Drosophila melanogaster is tolerant to a low O2 environment, withstanding hours of total O2 deprivation without showing any evidence of cell injury. Subsequently, our laboratory embarked on the study of hypoxia tolerance using a mutagenesis and overexpression screens to beg...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e3181b27275
更新日期:2009-09-01 00:00:00
abstract::Pregnane steroids have sedative and neuroprotective effects on the brain, due to interactions with the steroid-binding site of the GABAA receptor. In the adult brain, synthesis of the pregnane steroids is increased in response to stress. Therefore, we have used umbilicoplacental embolization to mimic chronic placental...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000088066.47755.36
更新日期:2003-12-01 00:00:00