Abstract:
:To date, many mutations, including intronic nucleotide changes, in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) have been reported in Gitelman's syndrome (GS) patients. However, it has not been clarified whether intronic nucleotide changes affect mRNA content. Since mRNA analysis is possible only after obtaining renal biopsy specimens, no studies have been conducted to identify transcript abnormalities in GS. In the study reported here, we investigated such transcript abnormalities for the first time by using mRNA expressed in a patient's urinary sediment cells. Direct sequencing analysis of leukocyte DNA disclosed one known missense mutation (R399C) and one known nucleotide change of the splicing acceptor site of intron 13 (1670-1 g > t). mRNA extracted from the urinary sediment cells was analyzed by RT-PCR to determine the pathogenic role of the intron mutation. A fragment encompassing exon 13 to 15 was amplified as two products, one consisting of all three exons and the other lacking only exon 14 in its entirety. Our investigation was the first to demonstrate exon 14 skipping in an NCCT transcript in renal cells. This methodology thus constitutes a potential noninvasive analytical tool for every inherited kidney disease.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Kaito H,Nozu K,Fu XJ,Kamioka I,Fujita T,Kanda K,Krol RP,Suminaga R,Ishida A,Iijima K,Matsuo Mdoi
10.1203/pdr.0b013e318031935asubject
Has Abstractpub_date
2007-04-01 00:00:00pages
502-5issue
4eissn
0031-3998issn
1530-0447pii
00006450-200704000-00023journal_volume
61pub_type
杂志文章abstract::Contributions from multidisciplinary investigations have focused attention on the potential of tissue engineering to yield novel therapeutics. Congenital malformations, including cleft palate, craniosynostosis, and craniofacial skeletal hypoplasias represent excellent targets for the implementation of tissue engineeri...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1203/PDR.0b013e31816a743e
更新日期:2008-05-01 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 effects of an emulsified intravenous fat preparation (Intralipid) on bilirubin transport were analyzed by cholestyramine extraction, spectrophotometric analysis, Sephadex gel filtration, peroxidase assay, bilirubin uptake by red blood cells, and by toxicity in tissue culture (L-929) cells. Intralipid is capable of...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197703000-00004
更新日期:1977-03-01 00:00:00
abstract::Chondro-osseous tissue from five patients with diastropic dwarfism was studied by histologic, histochemical, and electron microscopic methods. The major abnormalities observed were: 1) irregular distribution of chondrocytes undergoing degeneration in the resting cartilage; 2) abnormal distribution of collagens in the ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197908000-00007
更新日期:1979-08-01 00:00:00
abstract::Very preterm infants developing bronchopulmonary dysplasia frequently show a compromised growth in the neonatal period especially when steroids are given to facilitate weaning from the ventilator. The aim of this study was to evaluate the short-term effect of dexamethasone (DEXA) on the GH-IGF axis in ventilated very ...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1203/01.PDR.0000065727.45195.69
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:The objective was to determine the association between perioperative risk factors and brain imaging abnormalities on neurologic outcome in neonates with hypoplastic left heart syndrome (HLHS) or d-Transposition of the great arteries (d-TGA) who underwent cardiac surgery including cardiopulmonary bypass. MET...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-1085-1
更新日期:2020-07-25 00:00:00
abstract::We established an experimental animal model of the gastrointestinal colonization and systemic disease following oral challenge of type III group B streptococcal strain in 3-day-old newborn rats. Two type III group B streptococcal strains isolated from the cerebrospinal fluid of septic newborn infants produced coloniza...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198412000-00022
更新日期:1984-12-01 00:00:00
abstract::This study was aimed at describing abdominal and laryngeal muscle responses to upper airway occlusion (UAO) in early life and the effect of sleep states on these responses. Twelve nonsedated, 9-26-d-old lambs were studied. We simultaneously recorded 1) airflow (pneumotachograph + face mask); 2) sleep states (electroco...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199706000-00011
更新日期:1997-06-01 00:00:00
abstract::11-Beta hydroxysteroid dehydrogenase type 2 (HSD2) oxidizes the biologically active glucocorticoid (GC), cortisol, to inactive cortisone. We characterized HSD2 gene expression and activity in human adult and fetal lung tissues and in cultured fetal lung explants, and examined the potential regulation of HSD2 in the fe...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e3180676cf3
更新日期:2007-07-01 00:00:00
abstract::To investigate the detailed pattern of change in circulating gonadotropin and testosterone concentrations around the onset of puberty and to determine the temporal relationship between the gonadotropin and testosterone secretion, plasma gonadotropin and testosterone were measured at 20-min intervals for 24 h in 21 nor...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199308000-00026
更新日期:1993-08-01 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::A 2-month-old white girl had severe liver disease (but without signs of hepatic necrosis, infection or cirrhosis), urinary cytomegalovirus, transient reduction of alpha 1-antitrypsin concentration and transient abnormal alpha 1-antitrypsin phenotype that were not present in her parents. Five serum specimens that were ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198203000-00006
更新日期:1982-03-01 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::Intratracheal lipopolysaccharide (LPS) causes acute inflammation and injurious mechanical ventilation results in pulmonary and systemic inflammation. We aimed to determine in preterm lungs if continuous positive airway pressure (CPAP) protects against pulmonary and systemic inflammation, compared with conventional mec...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e318189487e
更新日期:2009-01-01 00:00:00
abstract::Intrauterine ligation of the common bile duct was carried out in ten fetal lambs at approximately 80 days gestational age. Six of the fetal lambs survived until term and were sacrificed at varying periods until the 36th day of life. The lesion which developed resembled a "correctable" type of extrahepatic biliary atre...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198005000-00007
更新日期:1980-05-01 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::The mechanism by which dexamethasone (DEX) inhibits neutrophil (PMN) recruitment to a site of inflammation, such as the newborn lung with bronchopulmonary dysplasia, is not completely understood. The aim of our study was to determine whether DEX inhibits neutrophil-induced neutrophil recruitment by inhibition of inter...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199910000-00008
更新日期:1999-10-01 00:00:00
abstract::Myocardial oxygen demand may be increased in chronically hypoxemic lambs because of their increased heart rate. Therefore, we determined whether left ventricular (LV) oxygen supply, oxygen uptake and oxygen demand were proportionally increased in 6-wk-old lambs, after 4 wk of hypoxemia (n = 15), as compared with contr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199310000-00017
更新日期:1993-10-01 00:00:00
abstract::Inasmuch as taurine biosynthesis is decreased during early postnatal life, an efficient mechanism for taurine uptake by the liver must be present to maintain intracellular stores of this beta-amino acid. Therefore, basolateral liver plasma vesicles prepared from 14-day and adult rats were used to examine taurine trans...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198802000-00009
更新日期:1988-02-01 00:00:00
abstract::Previous studies have shown that early life stress in the form of intermittent maternal separation (MS) predisposes adult rats to develop stress-induced intestinal mucosal dysfunction and visceral hypersensitivity. However, the mechanism involved in the functional abnormalities is unclear. Our aim was to study immatur...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000190577.62426.45
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND:Human milk oligosaccharides (HMOs) shape the intestinal microbiota in term infants. In premature infants, alterations in the intestinal microbiota (dysbiosis) are associated with risk of necrotizing enterocolitis (NEC) and sepsis, and the influence of HMOs on the microbiota is unclear. METHODS:Milk, urine, ...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章
doi:10.1038/pr.2015.162
更新日期:2015-12-01 00:00:00
abstract:BACKGROUND:Near-infrared spectroscopy (NIRS) is an upcoming clinical method for monitoring regional cerebral oxygen saturation (rScO2) in neonates. There is a growing market offering different devices and sensors. Even though this technique is increasingly clinically applied, little is known about the similarities and/...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2013.133
更新日期:2013-11-01 00:00:00
abstract::The development of amniotic fluid turbidity during the third trimester is a known marker of fetal lung maturity. We hypothesized that this turbidity results from detachment of vernix caseosa from the fetal skin secondary to interaction with pulmonary-derived phospholipids in the amniotic fluid. To test this hypothesis...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200007000-00021
更新日期:2000-07-01 00:00:00
abstract::Fetal intrauterine growth retardation was induced in nine rats at 17 days' gestation by ligating the blood supply to one of the uterine horn. The 27 festuses from the uterine vessel ligated side were the intrauterine growth retarded fetuses (IUGR) and the 37 fetuses from the nonligated side were controls. The mean wei...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197608000-00008
更新日期:1976-08-01 00:00:00
abstract::Lung development progresses through a process reliant on mechanical cell stretch. However, this process is not well defined at the molecular level. Our goal was to globally analyze the transcriptome of fetal mouse lungs following short periods of tracheal occlusion (TO) to identify cellular processes that are rapidly ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31815eba47
更新日期:2008-02-01 00:00:00
abstract::Carbon monoxide (CO) and the excitatory amino acid glutamate both dilate cerebral arterioles in newborn pigs. The key enzyme in CO synthesis is heme oxygenase, which is highly expressed in neurons with glutamatergic receptor activity as well as cerebral microvessels. During seizures the extracellular level of glutamat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200205000-00006
更新日期:2002-05-01 00:00:00
abstract::Hypoxic-ischemic injuries can evolve over several days, and recent studies suggest that further neuronal death may occur 6 to 72 h later. Because cerebral temperature is an important determinant of outcome during the primary injury, we investigated the effect of temperature, on outcome, during the later phases of inju...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199604000-00005
更新日期:1996-04-01 00:00:00
abstract:BACKGROUND:Intrauterine growth restriction (IUGR) has been linked to heart disease in adulthood. Hence the IUGR heart is likely to be vulnerable to diabetic heart disease. The aim of this study was to examine the effect of induction of type 1 diabetes on myocardial collagen deposition and cardiac function in adult rats...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.94
更新日期:2012-10-01 00:00:00
abstract::Groups of newborn rats were transthoracically inoculated with 1 X 10(6) type III group B streptococci/g body wt, either alone or in combination with 1.5 microgram/g body wt of type-specific antibody derived from hybridoma cell lines. Ninety-four percent of the animals who received bacteria alone died. In contrast, non...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198310000-00005
更新日期:1983-10-01 00:00:00
abstract::Previous studies have demonstrated that myocardial function changes during mammalian perinatal development. The purpose of this study was to evaluate the subcellular basis underlying the slower relaxation in the developing heart by examining perinatal changes in sarcoplasmic reticulum (SR) function, and in SR Ca2+ pum...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199205000-00012
更新日期:1992-05-01 00:00:00