Abstract:
:Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S. All mutations were novel except for SCN5A-F532C, which was previously detected in an arrhythmic patient. Heterologous expression study revealed significant changes in channel properties of KCNH2-T895M, SCN5A-G1084S, and SCN5A-F1705S, but did not in KCNQ1-K598R and SCN5A-F532C. Our data suggests that nearly 10% of SIDS victims in Japan have mutations of the cardiac ion channel genes similar to in other countries.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Otagiri T,Kijima K,Osawa M,Ishii K,Makita N,Matoba R,Umetsu K,Hayasaka Kdoi
10.1203/PDR.0b013e3181841ecasubject
Has Abstractpub_date
2008-11-01 00:00:00pages
482-7issue
5eissn
0031-3998issn
1530-0447journal_volume
64pub_type
杂志文章,多中心研究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::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::Children with inflammatory bowel disease are known to be at risk of osteopenia. The cause of this osteopenia is likely to be multifactorial, but the inflammatory process with its characteristic overproduction of cytokines has been implicated. To investigate this possible contribution of the disease activity to the dev...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200008000-00008
更新日期:2000-08-01 00:00:00
abstract::Several neuropathologic findings in infants and children with human immunodeficiency virus type-1 (HIV-1) infection are different from those observed in adults, probably related to the fact that the retroviral infection occurs in the setting of neuro-development. This report describes the interaction and biologic acti...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199511000-00025
更新日期:1995-11-01 00:00:00
abstract:BACKGROUND:Biliary atresia (BA) is an infantile disorder characterized by progressive sclerosing cholangiopathy leading to biliary obstruction. First-line treatment of BA is hepatoportoenterostomy, the prognosis of which is related to age at surgery and to histological variables such as extent of fibrosis and ductular ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.177
更新日期:2014-01-01 00:00:00
abstract::We examined the long-term effects of dietary protein restriction during rat pregnancy on serum IGF-I, serum IGF binding proteins, and liver IGF-I gene expression during postnatal development. Pregnant Wistar rats were fed ad libitum throughout gestation a normal (20% casein diet; P20 controls) or a low (5% casein; P5)...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199604000-00015
更新日期:1996-04-01 00:00:00
abstract:INTRODUCTION:Corticosteroids have been widely used in clinical medicine as a first-line therapy to modify the inflammatory response in many pulmonary and systemic diseases. Inhaled and intratracheally administered corticosteroids have a particular interest in that their use allows the clinician to circumvent systemic s...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2011.78
更新日期:2012-04-01 00:00:00
abstract::Genetic variants of surfactant protein B (SP-B) have been associated with respiratory distress syndrome (RDS) in the prematurely born infant. We wished to determine linkage between RDS and SP-B single nucleotide polymorphisms (SNPs) [-18 (A/C), 1013 (A/C), 1580 (C/T), and 9306 (A/G)] or SP-B-linked microsatellite [(D2...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000203145.48585.2c
更新日期:2006-04-01 00:00:00
abstract::Innate immunity and urinary tract response play a central role in the development of urinary tract infection (UTI). Heat shock protein (HSP) 72 and Toll-like receptor (TLR) 4 are among the key elements of innate defence mechanisms. This study assesses the role of HSPA1B A(1267)G and TLR4 A(896)G polymorphisms using al...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/pdr.0b013e318030d1f4
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:Volatile organic compounds (VOCs) are hydrocarbons that originate within different healthy and diseased tissues. VOCs can be secreted into the circulation and then excreted in the urine and faeces. In the lungs, VOCs are locally produced and can be detected in exhaled breath. VOCs can be identified using non...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/s41390-020-0828-3
更新日期:2020-03-02 00:00:00
abstract::BackgroundAdults born preterm have higher levels of cardiometabolic risk factors than their term-born peers. Studies have suggested that at least those born smallest eat less healthily. We examined the association between early (<34 weeks) and late (34-36 weeks) preterm birth and diet and food preferences in adult age...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.301
更新日期:2018-03-01 00:00:00
abstract::Cerebral blood flow (CBF) measurement by near infrared spectroscopy (NIRS) using oxyhemoglobin (HbO2) as a tracer (CBF-HbO2) needs rapid changes in arterial oxygen saturation (SaO2) which often cannot be achieved in many sick infants. An alternative method based on the same adaptation of the Fick principle using i.v. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199801000-00006
更新日期:1998-01-01 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 response of cerebral blood volume (CBVR) to a small induced change in arterial carbon dioxide tension was studied by near-infrared spectroscopy in 17 newborn infants born from 26 wk of gestation to term. All 17 infants were undergoing mechanical ventilation but had apparently normal brains. The CBVR per kPa change...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199106010-00007
更新日期:1991-06-01 00:00:00
abstract::In neuronal cultures from the forebrain of 14-d-old rat embryos, transient hypoxia (95% N2/5% CO2, 37 degrees C) for 6 h has been shown to trigger delayed apoptotic death through sequential changes in protein synthesis, whereas preconditioning by a brief episode of hypoxia can rescue neurons. Because hypothermia has b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200003000-00017
更新日期:2000-03-01 00:00:00
abstract::The possible role played by albumin in regulating brain metabolism during development has been studied. The effects of fatty acid-free BSA on lactate, glucose, 3-hydroxybutyrate, and glutamine oxidation and lipogenesis by rat neurons and astrocytes from primary culture were studied. The rate of lactate oxidation and l...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199312000-00002
更新日期:1993-12-01 00:00:00
abstract::Yesterday's immunodeficiencies emphasized the clinical and familial associations of the syndromes and date from the 1920s (ataxia-telangiectasia, chronic mucocutaneous candidiasis), the 1930s (Wiskott-Aldrich syndrome), skipping the 1940s, but blossoming in the 15-y period from 1950 to 1965. In this period, primary im...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章,评审
doi:10.1203/00006450-199305001-00007
更新日期:1993-01-01 00:00:00
abstract::One of two slightly different influenza A/ts-1[E] recombinant candidate live vaccines was given intranasally to each of 23 young children. Twelve of 15 children who had no serum HI antibody but who did have serum ANAB at the time of administration became infected and 1 had mild rhinitis. All eight who lacked both type...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197604000-00008
更新日期:1976-04-01 00:00:00
abstract::We determined whether closing the ductus arteriosus of the fetal lamb several d before birth would cause persistent pulmonary hypertension after birth. Six experimental fetuses who had their ductus arteriosus ligated 3-17 d before delivery, three control fetuses who had sham ligation of the ductus arteriosus 14 d befo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198903000-00005
更新日期:1989-03-01 00:00:00
abstract::Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by diabetes, retinal degeneration, and neurologic symptoms. Affected patients evidence marked parenchymal iron accumulation in conjunction with an absence of circulating serum ceruloplasmin and molecular genetic analysis reveals inh...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/00006450-199809000-00001
更新日期:1998-09-01 00:00:00
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::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::It is customary to estimate the uteroplacental function in singletons by defining appropriateness of birth weight by gestational age. Such a measure, however, is not available for the entire multiple pregnancy set. We evaluate a new index, total triplet birth weight, expressed as multiples of the median (MOM) birth we...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000202757.47761.76
更新日期:2006-04-01 00:00:00
abstract::The functional activity of naturally acquired IgG and IgM with specificity for the capsular polysaccharide of type III, group B Streptococcus (III-GBS) was compared. Sera collected during convalescence from 14 infants who had developed specific antibodies following III-GBS infection were employed for separation of IgG...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198801000-00007
更新日期:1988-01-01 00:00:00
abstract:BACKGROUND:Prolonged hypoglycemia leads to brain injury, despite treatment with 10% dextrose. Whether induction of hyperglycemia or ketonemia achieves better neuroprotection is unknown. Hyperglycemia is neuroprotective in other brain injuries during development; however, it worsens hypoglycemia-induced injury in the ad...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2014.146
更新日期:2015-01-01 00:00:00
abstract::Genetic typing of serum transferrin was performed in a group of 88 extremely premature infants (gestation age less than 32 wk) and in a control group of 351 full-term infants, using isoelectric focusing technique on ultrathin layer of polyacrilamide gel. A major incidence of C2 type was found among the preterm infants...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198212000-00011
更新日期:1982-12-01 00:00:00
abstract:BACKGROUND:Bronchopulmonary dysplasia (BPD) is an important cause of morbidity. The aim of this study was to evaluate the preventive effect of cytidine 5'-diphosphocholine (CDP-choline) treatment on hyperoxic lung injury in a neonatal rat model. METHODS:A total of 30 newborn pups were divided into control, hyperoxia, ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.68
更新日期:2013-07-01 00:00:00
abstract::Platelet-activating factor (PAF) is a proinflammatory phospholipid mediator implicated in necrotizing enterocolitis. Regulation of PAF-acetylhydrolase (AH), the enzyme degrading PAF, is poorly understood. In this study we found that administration of a dose of PAF (1.5 microg/kg, i.v.), which does not cause gross inte...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199711000-00008
更新日期:1997-11-01 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::We have explored the physiology of urinary epidermal growth factor (EGF) in the mouse by studying its ontogeny, and the effects of testosterone therapy on immunoreactive EGF (IR-EGF) concentrations in urine, kidney, serum and submandibular gland (SMG). Urine IR-EGF (U-EGF) increased about 100-fold relative to urea con...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198505000-00004
更新日期:1985-05-01 00:00:00