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 resequencing from an unselected, population-based cohort (n = 1,116). We found an excess of low-frequency variation [81 SNPs and five small insertion/deletions (in/dels)]. Despite its small genomic size (9.7 kb), SFTPB was characterized by weak linkage disequilibrium (LD) and high haplotype diversity. Using the HapMap Yoruban and European populations, we identified a recombination hot spot that spans SFTPB, was not detectable in our focused resequencing data, and accounts for weak LD. Using homology-based software tools, we discovered no definitively damaging exonic variants. We conclude that excess low-frequency variation, intragenic recombination and lack of common disruptive exonic variants favor complete resequencing as the optimal approach for genetic association studies to identify regulatory SFTPB variants that cause neonatal respiratory distress syndrome in genetically diverse populations.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Hamvas A,Wegner DJ,Carlson CS,Bergmann KR,Trusgnich MA,Fulton L,Kasai Y,An P,Mardis ER,Wilson RK,Cole FSdoi
10.1203/PDR.0b013e3180a03232subject
Has Abstractpub_date
2007-08-01 00:00:00pages
170-5issue
2eissn
0031-3998issn
1530-0447journal_volume
62pub_type
杂志文章abstract::In 1975-1976, an experiment was performed at three sites of an HMO to investigate the effect of a protocol on drug prescribing for otitis media. A large and unexpected difference in encounter rates for otitis media was found among the sites. In the first 6 months of 1975, the rate of children less than 15 years with a...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198010000-00005
更新日期:1980-10-01 00:00:00
abstract::Three members of a Virginia family with a bleeding disorder were found to have a serum defect in thromboplastin generation similar to the previously reported "Car. factor" deficiency. Sera from three members of the original Car. family did not correct the defect of affected members of the Virginia family. Partial thro...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-197504000-00009
更新日期:1975-04-01 00:00:00
abstract::Despite the availability of successful prevention strategies to prevent excessive hyperbilirubinemia, the neurological sequelae of bilirubin neurotoxicity (BNTx) still occur throughout the world. Kernicterus, encephalopathy due to BNTx, is now understood to be a spectrum of severity and phenotypes known as kernicterus...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-019-0608-0
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disease caused by blocking of the enzyme mevalonate kinase in the pathway of cholesterol and isoprenoids. The pathogenic mechanism originating an immune response in MKD patients has not been clearly understood. METHODS:We investigated the...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.96
更新日期:2013-09-01 00:00:00
abstract::The renal effects of endothelin-1 were investigated in 16 anesthetized and mechanically ventilated newborn rabbits. Renal blood flow and glomerular filtration rate were determined by the clearance of para-aminohippuric acid and inulin, respectively. Each animal acted as its own control. In eight newborn rabbits, a bol...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199308000-00002
更新日期:1993-08-01 00:00:00
abstract::Data are scarce regarding mineral bioavailability from human milk in older infants who may also be receiving solid foods (beikost). We measured the absorption of Ca, Zn, and Fe in 14 healthy, nonanemic 5-7-mo-old breast-fed infants whose mothers milk was extrinsically labeled with stable isotopes (44Ca, 70Zn, and 58Fe...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/00006450-199703000-00014
更新日期:1997-03-01 00:00:00
abstract::We studied the effects of anemia and ouabain administration on cardiac function, oxygen physiology, and blood catecholamine levels in nine newborn lambs. We measured oxygen consumption continuously, along with traditional hemodynamic variables. Oxygen transport was calculated. Following baseline measurements, lambs we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198705000-00005
更新日期:1987-05-01 00:00:00
abstract::Adverse perinatal events affecting cerebral functions are a major cause of neonatal mortality, morbidity, and long-term neurologic deficit. Intrapartum fetal EEG, which records fetal brain electrical activity, provides a monitoring modality for evaluating the fetal CNS during labor. In this study, we describe a new ap...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200009000-00013
更新日期:2000-09-01 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::The use of tissue engineering to develop new urinary bladder could have direct impact on children suffering from congenital bladder dysfunction. Current bladder tissue engineering protocols rely on scaffolds to support the ingrowth of new cells and the subsequent development of new tissues. The interaction between cel...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e3181d35034
更新日期:2010-05-01 00:00:00
abstract::Increased concentrations of carcinoembryonic antigen (CEA) have been reported in the sera and sputum of patients with cystic fibrosis. We have found significantly higher concentrations of CEA in both extracted and unextracted saliva of patients with cystic fibrosis compared to age-matched controls and a comparable gro...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198003000-00002
更新日期:1980-03-01 00:00:00
abstract::The length of the Y chromosome was measured in 42 black patients with trisomy 21 (47,XY,+21) and a similar number of normal individuals of American black ancestry. The length of the Y was expressed as a function of Y/F ratio and arbitrarily classified into five groups using subjectively defined criteria as follows: ve...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198209000-00012
更新日期:1982-09-01 00:00:00
abstract::Platelet volume was measured in 20 healthy children, 18 patients with acute idiopathic thrombocytopenic purpura (ITP), 24 patients with chronic ITP, 22 patients with aplastic anemia, and 17 patients with acute leukemia in childhood. The authors compared the platelet volume of these patients by use of peak platelet vol...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198002000-00013
更新日期:1980-02-01 00:00:00
abstract:BACKGROUND:Neonatal encephalopathy (NE) carries high risk for neurodevelopmental impairments. Therapeutic hypothermia (TH) reduces this risk, particularly for moderate encephalopathy (ME). Nevertheless, these infants often have subtle functional deficits, including abnormal memory function. Detection of deficits at the...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.169
更新日期:2016-12-01 00:00:00
abstract::The immunological competence of neonatal rabbits inoculated intradermally with Treponema pallidum was examined. Both cellular responses and the production of humoral antibody to specific T. pallidum antigens and to nonspecific antigens or mitogens were investigated. In blast transformation assays, splenic and poplitea...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198410000-00013
更新日期:1984-10-01 00:00:00
abstract::Programmed proliferative degeneration of the human fetal ductus arteriosus (DA) preceding definite postnatal closure has a large developmental variability and is controlled by several signaling pathways. Among these vascular endothelial growth factor (VEGF) and its receptors (VEGF-Rs) play an important role. Until now...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318180a375
更新日期:2008-10-01 00:00:00
abstract::Mucosal samples from rabbit jejunum were incubated (30 min, 25 degrees C) with (125I)glycinin in the presence of buffer, soybean lectin (50 micrograms/ml) soyasaponins (1 mg/ml), or both lectin and saponins. The mucosal uptake of (125I)glycinin was negligible with buffer, and increased progressively with additions of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198209000-00005
更新日期:1982-09-01 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 purpose of this investigation was to determine whether maximal oxygen consumption (VO2max) differed between clinically obese black and white children and if a difference existed to determine whether it was related to hematological profiles and/or physical activity/inactivity levels. Twenty-three black and 21 white...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000176909.66057.a3
更新日期:2005-09-01 00:00:00
abstract::Delivery of M. nemestrina at 80% of normal gestation provides a population of neonates at high risk for hyaline membrane disease (HMD). The diagnosis of HMD was made by the presence of reticulogranular densities and air bronchograms on chest radiographs. Patchy atelectasis was seen in the lungs of animals assigned by ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197905000-00017
更新日期:1979-05-01 00:00:00
abstract::Increased expression of CD38 on CD8(+) T cells is associated with activation of the immune system, progression of HIV disease, and death in adults. The prognostic significance of these cells in HIV-infected children, where the picture is complicated by age-related differences in CD38 expression, remains controversial....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200206000-00013
更新日期:2002-06-01 00:00:00
abstract::Gluconeogenesis decreases during septic shock, but its mechanism is not well known. Tumor necrosis factor alpha (TNF-alpha), which is a key cytokine in septic shock, can increase GLUT1 gene expression and glucose uptake in muscles and fatty tissues. TNF-alpha does not alter the metabolism of hepatocytes in which GLUT2...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200104000-00018
更新日期:2001-04-01 00:00:00
abstract::Dietary n-3 polyunsaturated fatty acids (PUFA) may represent a mode of allergy prevention. Cord blood (CB) CD34+ hemopoietic progenitors are altered in infants at risk of atopy. We therefore studied the effects of dietary n-3 PUFA supplementation during pregnancy on numbers and function of progenitors in neonates at h...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/01.PDR.0000148279.72611.1D
更新日期:2005-02-01 00:00:00
abstract::Biochemical analysis and morphologic observation of the iliac crest cartilage from 8-year-old girl with I-cell disease were performed. Instead of hypertrophic change of chondrocytes in the zone of cartilage-bone junction, there were small atrophic cells having many inclusion bodies accumulated with lamellar materials....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198104000-00008
更新日期:1981-04-01 00:00:00
abstract::The fetal brain develops rapidly during the last trimester of pregnancy. Therefore, the brain of infants who are born preterm is vulnerable to changes in oxygen and nutrient supply in the neonatal period. The objective was to determine the effect of gestational age (GA) on the cerebral O2 supply threshold level for pr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000153673.00627.F4
更新日期:2005-03-01 00:00:00
abstract::Neonatal animals of several species are more tolerant of hyperoxic exposure than are adults, but the mechanisms of increased neonatal tolerance are unknown, as are the cell types, if any, that contribute to oxygen resistance. We studied the effect of in vivo exposure to 85% oxygen for 72 h on the activities of the ant...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199205000-00005
更新日期:1992-05-01 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
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::Infantile Refsum's disease is characterized by high levels of phytanic acid and the absence of normal hepatic peroxisomes. We investigated the in vivo influence of phytol, a precursor of phytanic acid, on peroxisomes by both biochemical and morphological methods. Enhanced supply of phytol in the diet of adult mice cau...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198605000-00007
更新日期:1986-05-01 00:00:00
abstract::Beta cells are partially replaced in neonatal rodents after deletion with streptozotocin (STZ). Exposure of pregnant rats to a low protein (LP) diet impairs endocrine pancreas development in the offspring, leading to glucose intolerance in adulthood. Our objective was to determine whether protein restriction has a sim...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3181e17c90
更新日期:2010-07-01 00:00:00