Abstract:
:We have performed clinical, in vitro biochemical, and genetic studies of a patient with severe insulin resistance, considerable growth restriction, and Rabson-Mendenhall syndrome (patient RM-3). The blood IGF-I level was undetectable in this patient, although the GH level was moderately decreased. During the postprandial period, glycemia, ketonuria, and plasma glucagon were very elevated despite high doses of exogenous insulin (glucose levels up to 30 mmol/L). In the postabsorptive state, blood glucose was normalized with small amounts of insulin; ketonuria, and glucagon levels were reduced but remained supranormal. Erythrocytes and cultured skin fibroblasts from the patient displayed a decrease in cell surface insulin receptors (IRs). The ability of physiologic concentrations of insulin to stimulate metabolic processes was altered in patient fibroblasts. Analysis of the IR gene by denaturing gradient gel electrophoresis and direct sequencing showed a homozygous missense mutation in exon 3, replacing Cys284 by Tyr in the alpha-subunit. In conclusion, marked primary insulin resistance was evidenced in patient cells as a result of a structural alteration in the IR alpha-subunit. The in vitro studies could not account alone for the in vivo metabolic alterations because glucose homeostasis varied considerably during the day in the patient.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Desbois-Mouthon C,Magré J,Duprey J,Caron M,Blivet-Van Eggelpoel MJ,Daubas C,Gourmelen M,Chevallier B,Rizkalla S,Robert JJ,Capeau Jdoi
10.1203/00006450-199707000-00012subject
Has Abstractpub_date
1997-07-01 00:00:00pages
72-7issue
1eissn
0031-3998issn
1530-0447journal_volume
42pub_type
杂志文章abstract::The effect of various lipids, proteins, and other substances on the adsorption rate of dipalmitoyl phosphatidylcholine (DPC) was investigated. Each substance was added to a sonicated suspension of DPC in saline, and the surface pressure of the adsorbed surface film was measured using a platinum plate suspended from an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198107000-00010
更新日期:1981-07-01 00:00:00
abstract::A study using fractional clearances during orally induced water diuresis was designed to delineate the mechanism underlying defective tubular reabsorption of sodium in very low-birth-weight neonates. The use of clearance methodology during maximal water diuresis may give an indirect estimate of distal sodium delivery ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198312000-00017
更新日期:1983-12-01 00:00:00
abstract::IL-8/CXC ligand (CXCL) 8 is ingested in high concentrations by the human fetus/neonate with amniotic fluid and human milk, and is also produced constitutively by intestinal epithelial cells (IEC). We have shown that recombinant human IL-8/CXCL8 (rhIL-8/CXCL8) protects cultured IEC against tumor necrosis factor (TNF)-a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000133196.25949.98
更新日期:2004-08-01 00:00:00
abstract::BackgroundBeing aware of the impact of low birth weight on late-onset hypertension, our aim was to describe systolic blood pressure (sBP) and renal function in 3-5-year-old preterm-born children and to determine which perinatal factors or childhood factors were associated with an altered renal function at 5 years in t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.148
更新日期:2017-12-01 00:00:00
abstract::A male child presented on the first day of life with metabolic acidosis with elevated blood lactate (15 mM), pyruvate (0.4 mM), and free fatty acid (1.3 mM) levels and a blood pH of 7.16. The severity of the acidosis was diminished by intravenous administration of glucose in large doses and by bicarbonate. On two occa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197512000-00015
更新日期:1975-12-01 00:00:00
abstract:BACKGROUND:Cardiovascular (CV) complications are the most significant cause of mortality in adults with Cushing disease (CD); little is known about CV risk factors in children with CD. Measurement of lipoprotein particles by nuclear magnetic resonance (NMR) spectroscopy is a novel technology to assess CV risk. The obje...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0438-0
更新日期:2019-09-01 00:00:00
abstract::The use of nebulized racemic epinephrine to improve ventilatory function in the newborn postextubation was studied. Forty-five infants intubated for more than 3 days were randomized to receive racemic epinephrine by nebulization immediately postextubation or to receive only warmed, humidified gas. Measurements of air ...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-198704000-00012
更新日期:1987-04-01 00:00:00
abstract::Maternal smoking doubles the risk of delivering a low birth weight infant. The purpose of this study was to analyze differential gene expression in umbilical cord tissue as a function of maternal smoking, with an emphasis on growth-related genes. We recruited 15 pregnant smokers and 15 women who never smoked during pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31817c5507
更新日期:2008-08-01 00:00:00
abstract::The in vitro incorporation and transport of plasma nonesterified fatty acids into phospholipids of red cell membranes have been studied in cystic fibrosis and healthy children. Red blood cells were labeled in vitro by an active "acyltransferase"-dependent incorporation of radioactively labeled nonesterified fatty acid...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198209000-00011
更新日期:1982-09-01 00:00:00
abstract::L-selectin, a surface adhesion glycoprotein expressed on leukocytes, has a well-established role in mediating inflammation and lymphocyte recirculation. Recent evidence suggests that L-selectin may also influence hematopoiesis. We observed that a greater proportion of CD34+ cells express L-selectin in cord blood compa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199906000-00015
更新日期:1999-06-01 00:00:00
abstract::The prevalence of iron deficiency was determined in Göteborg, Sweden, in a sample of 15- to 16-y-old girls (n = 220) and boys (n = 207) using serum ferritin (SF). In a recent study in women on the relationship between SF and stainable bone marrow iron, it was established that at a cutoff value for SF of < 16 microgram...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199311000-00023
更新日期:1993-11-01 00:00:00
abstract::In this study, we have investigated the possible role of the pro-aggregatory arachidonic acid (AA) metabolite thromboxane, in the impaired function of neonatal platelets. In platelet-rich plasma thromboxane production (measured by radioimmunoassay of thromboxane B2) was not different between neonates and adults when s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198409000-00003
更新日期:1984-09-01 00:00:00
abstract::Alveolar hypoxia increases pulmonary artery pressure in lambs and sheep but increases lung lymph flow only in lambs; the reasons for this are unknown. To test the hypothesis that hypoxia-induced pulmonary venous constriction could in part explain the fluid filtration response in young lambs, eight young lambs (13 +/- ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198712000-00013
更新日期:1987-12-01 00:00:00
abstract::Interrelationships of high-density lipoprotein cholesterol (C-HDL) with total plasma cholesterol (TC), triglyceride, and low-density lipoprotein cholesterol, as well as longitudinal maintenance of C-HDL rank order (tracking) from birth to age 2 years were assessed in 76 hypercholesterolemic neonates (cord blood, TC gr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198101000-00016
更新日期:1981-01-01 00:00:00
abstract::This study aimed to characterize early neonatal microvascular function after preeclamptic pregnancy with respect to infant sex and in utero growth. Peripheral microvascular blood flow was examined prospectively from 6 to 72 h of age using laser Doppler flowmetry in a cohort of term infants of normotensive women and wo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318193edf1
更新日期:2009-03-01 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::We hypothesized that cardiac and respiratory modulation of postganglionic peroneal activity appeared in an age-related manner. In anesthetized, paralyzed and artificially ventilated piglets, simultaneous recordings of efferent phrenic and peroneal discharges were obtained during hyperoxia (fraction of inspired oxygen,...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199601000-00012
更新日期:1996-01-01 00:00:00
abstract::Girls with Turner syndrome (TS) are treated with supraphysiological doses of growth hormone (GH) to improve final height; however in some girls, the growth response can be poor. This may reflect aberrations in GH and/or IGF-I actions at the cellular level, and thus this study compared the response of skin fibroblasts ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821b570b
更新日期:2011-07-01 00:00:00
abstract:BACKGROUND:Exposure to inflammation exacerbates injury in neonatal encephalopathy (NE). We hypothesized that brain biomarker mRNA, cytokine mRNA and microRNA differentiate inflammation (E. coli LPS), hypoxia (Hypoxia), and inflammation-sensitized hypoxia (LPS+Hypoxia) in an NE piglet model. METHODS:Sixteen piglets wer...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0986-3
更新日期:2020-06-10 00:00:00
abstract::Local delivery of Escherichia coli beta-galactosidase gene (beta-gal) to surfactant protein-A (SP-A)-producing cells by a replication-defective recombinant adenovirus (AdCMV.beta-gal) was tested in human 8-12-wk-old fetal lung explants cultured in Waymouth's medium. In contrast to uninfected explants, direct addition ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199607000-00024
更新日期:1996-07-01 00:00:00
abstract::Epidermal growth factor (EGF) and transforming growth factor-alpha (TGF-alpha) are mitogenic to the intestinal epithelium. To further clarify their role in the developing human fetal gut, their expression was studied in fetuses at 15 to 20 wk of gestation. TGF-alpha mRNA was present throughout the gastrointestinal tra...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199305000-00012
更新日期:1993-05-01 00:00:00
abstract::Altered pulmonary vascular resistance might be a factor for delayed closure of the ductus arteriosus (DA) in preterm infants. Angiotensin II plays a central role in the elevation of pulmonary vascular resistance. Angiotensin II exerts its vasoconstrictor effect on the angiotensin II type 1 receptor (AT1R). Homozygous ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000088016.67117.39
更新日期:2003-11-01 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::To determine the developmental changes in the myocardial current during fetal life, and to evaluate the clinical usefulness of magnetocardiography for prenatal diagnosis of cardiac hypertrophy or enlargement, we approximated the magnitude of the one-current dipole of the fetal heart using fetal magnetocardiography (fM...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200108000-00013
更新日期:2001-08-01 00:00:00
abstract::Hypothermia is a frequent occurrence in newborns, and thermoregulatory management is a fundamental part of medical stabilization. Although modest reduction in brain temperature (2-3 degrees C) before ischemia provides neuroprotection in adults, the effect of modest hypothermia on immature brain has not been examined. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract:BACKGROUND:Intranasal corticosteroids are the most efficacious anti-inflammatory medications for allergic rhinitis (AR). However, the efficacy and safety of intranasal corticosteroids in children have not yet been subject to specific research in China. The aim of this study was to investigate the efficacy and safety of...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01180-0
更新日期:2020-10-02 00:00:00
abstract::Phototherapy results in the conversion of native bilirubin to more water-soluble configurational and structural isomers. The serum half-life for the configurational isomer, the principal photoproduct in vivo, was determined by high pressure liquid chromatography in six premature infants following cessation of photothe...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198502000-00012
更新日期:1985-02-01 00:00:00
abstract::After the infusion of fructose, 0.25 g/kg body wt, the mean peak plasma uric acid level was 5.4 +/- 0.7 (SEM) mg/100 ml in six normal children and was not significantly increased compared with that of the mean basal value of 4.1 +/- 0.5 mg/100 ml. The mean blood inorganic phosphate (Pi) levels were significantly less ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197510000-00005
更新日期:1975-10-01 00:00:00
abstract::We evaluated the hypothesis that increased endogenous opioid activity mediates part or all of the left ventricular contractile and pump dysfunction previously demonstrated in HCl-induced metabolic acidemia. Eighteen Western newborn lambs were catheterized and instrumented; pacing wires were sutured to the right atrial...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198806000-00023
更新日期:1988-06-01 00:00:00
abstract::We tested whether reoxygenation with 100% O(2) for 5 min after experimental asphyxia in newborn piglets was as efficient as 100% O(2) for 20 min compared with room air. Forty-one anesthetized piglets, 1-3 d old, were randomized to cerebral hypoxemia-ischemia-hypercapnia (HIH) or control (n = 5). HIH was achieved by ve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000128978.90201.1D
更新日期:2004-07-01 00:00:00