Abstract:
:In 1964, H. K. A. Visser and W. S. Cost were the first to suggest a defect of the terminal aldosterone (Aldo) biosynthesis in patients with hypoaldosteronism. In the last years, the molecular basis of the terminal Aldo biosynthesis has been elucidated. Aldo biosynthesis requires 11beta-hydroxylation of 11-deoxycorticosterone to form corticosterone, hydroxylation at position C-18 to form 18-hydroxycorticosterone (18-OHB), and finally oxidation at position C-18. One single cytochrome P450 enzyme (P450aldo) catalyzes all three reactions in the zona glomerulosa. The coding gene is termed CYP11B2. Two inborn errors of terminal Aldo biosynthesis characterized by overproduction of corticosterone and deficient synthesis of Aldo have been described. Corticosterone methyl oxidase deficiency type I (CMO I) is distinguished by decreased production of 18-OHB while CMO II is characterized by overproduction of 18-OHB and an elevated ratio of 18-OHB to Aldo. Both disorders are inherited by an autosomal recessive trait and cause salt-wasting and failure to thrive in early infancy. Our present series includes 14 CMO deficient infants diagnosed by multisteroid analysis (RIA after extraction and automated high performance gel chromatography) which provides precise biochemical criteria for the differentiation of the two CMO variants. So far, three different mutations within the CYP11B2 gene in patients with P450aldo deficiency have been described. Introduction of these mutations into a CYP11B2 cDNA expression vector construct and subsequent expression in COS cells revealed loss of 11beta-hydroxylase, 18-hydroxylase, and 18-dehydrogenase activity of P450aldo. Further molecular studies on more P450aldo-deficient patients might clarify in the future the still existing discrepancies in CYP11B2 (P450aldo) structure-function relationship.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Peter M,Sippell WGdoi
10.1203/00006450-199603000-00027subject
Has Abstractpub_date
1996-03-01 00:00:00pages
554-60issue
3eissn
0031-3998issn
1530-0447journal_volume
39pub_type
杂志文章abstract::In an effort to characterize the hepatic abnormality in patients with alpha1-antitrypsin deficiency, three unrelated children with the disorder (Pi types ZZ and SZ), two heterozygous parents (Pi type MZ), and three normal subjects (Pi type MM) were studied. As expected, the livers of the ZZ- and SZ-deficient subjects ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197601000-00007
更新日期:1976-01-01 00:00:00
abstract::New information is emerging concerning the influence of environmental factors (e.g., viruses, pollutants, nutrients) on fetal lung development and the prenatal modulation of cellular and molecular effectors essential to the control of airway function, which may shed new light into the pathogenesis of chronic obstructi...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-019-0657-4
更新日期:2020-01-01 00:00:00
abstract::Human milk was fractionated to obtain a partially purified growth factor preparation. The growth factor in this fraction, designated as human milk growth factor III, exhibits chromatographic and biological characteristics similar to epidermal growth factor-urogastrone. Pretreatment of mice with human milk growth facto...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198509000-00009
更新日期:1985-09-01 00:00:00
abstract::Acute postasphyxial encephalopathy around the time of birth remains a major cause of death and disability. The possibility that hypothermia may be able to prevent or lessen asphyxial brain injury is a "dream revisited". In this review, a historical perspective is provided from the first reported use of therapeutic hyp...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章,评审
doi:10.1038/pr.2016.198
更新日期:2017-01-01 00:00:00
abstract::Acute kidney injury (AKI) is common in premature infants and is associated with poor outcomes. Novel biomarkers can detect AKI promptly. Because premature infants are born with underdeveloped kidneys, baseline biomarker values may differ. We describe baseline values of urinary neutrophil gelatinase-associated lipocali...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3182275164
更新日期:2011-09-01 00:00:00
abstract::Five enzymes were measured in 50 liver specimens (18 normal liver, 20 Reye liver, 12 diverse liver disorders other than Reye syndrome). The enzymes were: glutamic dehydrogenase (E.C. 1.4.1.3), monoamine oxidase (E.C. 1.4.3.4), lactate dehydrogenase (E.C. 1.1.1.27), D-glucose-6-phosphate dehydrogenase (E.C. 1.1.1.49), ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198501000-00006
更新日期:1985-01-01 00:00:00
abstract::Diarrheal disease is a worldwide problem that still causes significant morbidity and mortality among children. Currently, oral rehydration solution (ORS) is the standard of care for acute diarrhea in pediatric patients. Although effective in reducing mortality, ORS does not alleviate diarrheal symptoms, thus reducing ...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2017.295
更新日期:2018-03-01 00:00:00
abstract::Fetal and maternal plasma noradrenaline responses to invasive procedures were determined in pregnancies of 18 to 37 wk gestation. Fetal umbilical venous blood sampling was performed either from the placental cord insertion, which is not innervated, or the intrahepatic vein, which is innervated, and thus may be more st...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199904010-00007
更新日期:1999-04-01 00:00:00
abstract:BACKGROUND:The epithelial-mesenchymal transition (EMT) has been implicated as a key mechanism in the pathogenesis of liver fibrosis. The miR-200 family has been shown to inhibit EMT. METHODS:Liver fibrosis levels were assessed with Masson's trichrome staining of liver samples obtained from biliary atresia (BA) patient...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.181
更新日期:2015-02-01 00:00:00
abstract::The effects of early protein-deficiency on lung development were studied in the rat. Newborn male rats were nursed in groups of eight. Control dams and pups received a 15% protein diet during the whole experiment. Test mothers only received 12 and 8% proteins from the 7th and the 14th day of lactation. Test rats fed a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198707000-00012
更新日期:1987-07-01 00:00:00
abstract::Neonatal jaundice is a common condition that could potentially lead to severe neurotoxicity. In this electrophysiological study we observed the effects of a short-term bilirubin injection on evoked potentials (population spike, PS) and long-term potentiation (LTP) in the hippocampal CA3 region of Sprague Dawley rats i...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000061563.63230.86
更新日期:2003-06-01 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::The effect of resuscitation with varying levels of O2 on pulmonary hemodynamics at birth is not well known. We hypothesized that the decrease in pulmonary vascular resistance (PVR) and subsequent response to pulmonary vasoconstrictors and vasodilators will differ following resuscitation with 21%, 50%, or 100% O2 for 3...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180db29fe
更新日期:2007-09-01 00:00:00
abstract::Twenty-two reported cases of neuroblastoma missed by the mass screening programs were reviewed (six cases in Sapporo City where a quantitative measurement for both vanillylmandelic acid (VMA) and homovanillic acid (HVA) is used and 16 cases in the districts of qualitative judgment only for VMA), and some potential fac...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198912000-00018
更新日期:1989-12-01 00:00:00
abstract::The present study investigates the effects of polycythemia on renal hemodynamics and function in 15 anesthetized newborn dogs, 2-10 days of age. Microspheres were used to study renal blood flow. Experimental animals received an exchange transfusion with adult dog packed red blood cells resulting in an increase in hema...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198202000-00014
更新日期:1982-02-01 00:00:00
abstract::The change in the pattern of biotransformation of [14C]corticosterone in fetal mouse brain between gestational day 14 and 17 increased the proportion of unchanged hormone from 9-75%. A sharp decrease in the in vitro incorporation of [14C]leucine, [3H]uridine, and [3H]thymidine into incubated brain coincided with this ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197812000-00011
更新日期:1978-12-01 00:00:00
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 stainin...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199506000-00003
更新日期:1995-06-01 00:00:00
abstract:BACKGROUND:Staphylococcus epidermidis (SE) is an important cause of late-onset sepsis in neonates. SE frequently produces a polysaccharide intercellular adhesin (PIA) biofilm, important in the pathogenesis of these infections. Little is known about how the neonatal innate immune system reacts to SE biofilm-associated i...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.193
更新日期:2013-03-01 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::Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome. To inform studies of genetic regulation of SFTPB expression, we created a catalogue of SFTPB variants by comprehensive r...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180a03232
更新日期:2007-08-01 00:00:00
abstract::Quantitation of the body's fat and learn masses is an important component of nutritional assessment. Such measurements, however, are difficult to conduct routinely in infants due to the numerous limitations of traditional methods. The application of total body electrical conductivity measurements for quantitating fat-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract::Lung infections are a common cause of morbidity and mortality in neonates. To evaluate neonatal lung defenses against pneumococci, we challenged rats with aerosols of encapsulated pneumococci in an airborne infection apparatus. Whereas adult rats cleared greater than 95% of inhaled type 1 or type 25 pneumococci within...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198712000-00025
更新日期:1987-12-01 00:00:00
abstract::Docosahexaenoic acid (DHA), a 22-carbon, highly unsaturated, n-3 fatty acid, is important for optimal nervous system function. In this study, designed to quantify how preformed dietary DHA regulates metabolic pathways in vivo, 8-d-old rat pups were divided into four groups and fed artificial rat milk diets. One group ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000147572.57627.AE
更新日期:2005-01-01 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::The secreted protein sonic hedgehog (Shh) is essential for normal development of many organs. Targeted disruption of Shh in mouse leads to near complete absence of craniofacial skeletal elements at birth, and mutation of SHH in human causes holoprosencephaly (HPE), frequently associated with defects of derivatives of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000199911.17287.3e
更新日期:2006-03-01 00:00:00
abstract::The purpose of this project was to study the role of lipid peroxidation in oxygen-induced lung injury in the newborn lamb. It was our hypothesis that injury to the microvascular bed of the lung by oxygen would coincide with a burst of peroxidative activity and would be accompanied by an increased rate of excretion of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199012000-00014
更新日期:1990-12-01 00:00:00
abstract::The microbiome, of which the bacterial component alone (microbiota), is estimated to include 10 times more cells than human cells of the body, blooms immediately after birth and evolves in composition and complexity throughout childhood. The gut microbiome has a profound impact on gastrointestinal tract development, m...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.162
更新日期:2015-01-01 00:00:00
abstract::BackgroundPregnant women at a high risk of preterm delivery receive glucocorticoids to accelerate fetal lung maturation and surfactant synthesis. However, the effect of antenatal steroids on the developing diaphragm remains unclear. We hypothesized that maternal betamethasone impairs the fetal diaphragm, and the magni...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.99
更新日期:2017-09-01 00:00:00
abstract::A patient is reported who presented in the newborn period with an unusual combination of congenital lactic acidosis and bilateral calcifications in the adrenal medulla, visible on standard abdominal x-ray and ultrasound examination. At birth, the proband was hypotonic and dystrophic. She developed respiratory insuffic...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181b40a80
更新日期:2009-09-01 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