Abstract:
:BackgroundSotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR) and subsequent genetic analysis.MethodsA 2-year-old boy with SoS experienced constipation since infancy and ultimately showed an aganglionic segment in the histopathologic examination, which was followed by exome-sequencing analysis.ResultsIn the genetic test for SoS diagnosis, two novel mutations of NDS1, c.2465C>A (p.Ser822Tyr) and c.4347T>A (p.Cys1449*), were observed and verified by resequencing in the patient and his parents. In further whole-exome-sequencing analysis using the patient's blood DNA, which was followed by a comparison analysis with the results of our previously reported genome-wide association study (GWAS) of HSCR, three genes (ZNF827, FGD2, and KCNJ12) with significance for HSCR from our previous GWAS were overlapped among the genes showing variants in the exome sequencing.ConclusionThis is the first reported patient with SoS and HSCR. Further studies are required to determine whether there is a genetic relationship between SoS and HSCR.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Sio CA,Jung K,Kim JH,Cheong HS,Shin E,Jang H,Yoon M,Jang H,Shin HDdoi
10.1038/pr.2017.106subject
Has Abstractpub_date
2017-07-01 00:00:00pages
87-92issue
1eissn
0031-3998issn
1530-0447pii
pr2017106journal_volume
82pub_type
杂志文章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::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::Studies were designed to develop an animal model for the syndrome of hypochloremic, hypokalemic metabolic alkalosis (HMA), and failure to thrive in infants due to intake of chloride-deficient formula. Littermate canine puppies, 2 wk old, were fed soy formula containing normal chloride, 20 mEq/liter (NC, n = 5), or low...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198705000-00015
更新日期:1987-05-01 00:00:00
abstract::Malignant osteopetrosis is a fatal congenital bone disorder characterized by defective osteoclastic function. Death frequently occurs within the first decade of life. The precise molecular defect(s) that causes osteopetrosis is not known. The possibility that osteoclasts, like macrophages, are controlled by interactio...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199304000-00014
更新日期:1993-04-01 00:00:00
abstract::Five patients with Bartter's syndrome were investigated. Sodium restriction (less than 10 mEq/day for at least 5 days) showed a renal sodium wastage in only two patients (I and II) in spite of increased aldosterone secretion rate (from 151-427 to 680-842 mug/day). The effect of angiotensin II (A II) 80ng/kg/min for 30...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197612000-00005
更新日期:1976-12-01 00:00:00
abstract::The mitochondrial DNA (mtDNA) point mutation T8993G has been associated with maternally inherited Leigh syndrome (MILS) when very abundant (> 95%). MILS patients are usually severely affected and die in early infancy. In 1993, a novel T8993C point mutation was described in a juvenile form of Leigh syndrome (LS) charac...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199605000-00028
更新日期:1996-05-01 00:00:00
abstract::The key enzymes in the synthesis of the naturally occurring polyamines, ornithine decarboxylase (ODC) and S-adenosyl methionine (SAM) decarboxylase, were investigated during cell growth and aging in fibroblast cultures from normal patients and patients with cystic fibrosis. A linear correlation between increased S-ade...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197703000-00009
更新日期:1977-03-01 00:00:00
abstract::Shigellosis in children can cause growth retardation, worsening of malnutrition, and hypoproteinemia. To assess the effects of ingestion of a protein-rich diet during convalescence, 22 children aged 2 to 4 y with culture-proven shigellosis were randomly assigned after 5 d of antibiotic treatment to 21-d feeding regime...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-199212000-00014
更新日期:1992-12-01 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
abstract::Angiotensin II-forming chymase is expressed in the pulmonary arteries of the monocrotaline-induced pulmonary hypertensive rats, but its actual role is unclear. We studied chymase-dependent angiotensin II formation in the pulmonary arteries of the monocrotaline-induced pulmonary hypertensive rats and observed the effec...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000219431.45075.d9
更新日期:2006-07-01 00:00:00
abstract::In Krabbe's disease (globoid cell leukodystrophy), galactosylsphingosine (psychosine) is considered to be a causative agent of the pathology found in the nervous system of the patients. In our study, we examined the cytotoxic effect of psychosine in neural cell cultures derived from the rat nervous system. The concent...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199011000-00011
更新日期:1990-11-01 00:00:00
abstract::The present study aimed to test whether an acute period of asphyxia during birth in the rat results in long-term alterations in CNS function. Morphologic studies have indicated that the hippocampus is particularly vulnerable to perinatal anoxia. Thus, the present study tested adult rats, which had undergone acute birt...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199504000-00018
更新日期:1995-04-01 00:00:00
abstract::Our goal was to determine the relationship between 4 amniotic fluid (AF) proteomic biomarkers (human neutrophil defensins 2 and 1, calgranulins C and A) characteristic of intra-amniotic inflammation, and funisitis and early-onset sepsis in premature neonates. The mass restricted (MR) score was generated from AF obtain...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000252439.48564.37
更新日期:2007-03-01 00:00:00
abstract::Surface active aerosols were produced from aqueous dispersions of mixed lipids (CLL), extracted from bovine lung lavage. Particle size distributions were measured as a function of humidity for two types of aerosol generators: ultrasonic and jet. Lipid dispersions before aerosolization were prepared by sonication in an...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198309000-00012
更新日期:1983-09-01 00:00:00
abstract::N-formyl-L-methionyl-L-leucyl-L-phenylalanine (FMLP) and N-formyl-L-methionyl-L-phenylalanine (FMP) were used to investigate neutrophil (PMN) aggregation. Neutrophils were isolated from healthy adult volunteers and term newborn cord blood. Neutrophil aggregation was measured after the addition of FMLP and FMP. Adult P...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198312000-00013
更新日期:1983-12-01 00:00:00
abstract::Infants with sudden infant death syndrome have higher hypoxanthine (Hx) concentrations in their vitreous humor than infants with respiratory distress syndrome and other infant control populations. However, previous research on piglets and pigs applying continuous hypoxemia has not been able to reproduce the concentrat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199312000-00013
更新日期:1993-12-01 00:00:00
abstract::Zidovudine (azidothymidine, AZT) is used in pregnancy to reduce mother to infant transmission of HIV. Understanding the disposition of AZT in the fetus is necessary to optimize therapeutic regimens directed toward the fetus. Recent studies in primates found similar steady-state levels of the glucuronide metabolite of ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199807000-00008
更新日期:1998-07-01 00:00:00
abstract::Tolazoline is used in neonatal intensive care to treat hypoxia secondary to persistent pulmonary hypertension of the newborn. Its use is often complicated by systemic hypotension. We compared the effect of tolazoline-induced hypotension on organ blood flow, regional brain blood flow, and cerebral metabolism in hypoxic...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199008000-00007
更新日期:1990-08-01 00:00:00
abstract::The effect of diet, human milk or formula, on gastric function (lipase and pepsin activity, pH, and volume) and intragastric digestion of fat was assessed in 28 appropriate for gestational age preterm infants (gestational age, 28.9 +/- 1.4, 29.1 +/- 0.9, 29.5 +/- 0.6 wk; birth weight, 1.00 +/- 0.14 to 1.18 +/- 0.07 kg...
journal_title:Pediatric research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1203/00006450-199609000-00011
更新日期:1996-09-01 00:00:00
abstract::The aim of this study was to produce a neonatal piglet model which, avoiding vessel ligation, exposed the whole animal to hypoxia and produced dose-dependent clinical encephalopathy and neuropathologic damage similar to that seen after birth asphyxia. Twenty-three piglets were halothane-anesthetized. Hypoxia was induc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199611000-00014
更新日期:1996-11-01 00:00:00
abstract::Milk gangliosides inhibit Vibrio cholerae enterotoxin and Escherichia coli heat-labile enterotoxin. Human milk gangliosides showed considerably higher enterotoxin-inhibitory activity compared to bovine and formula milk gangliosides as measured in vitro by enzyme-linked immunosorbent assay and in vivo in rabbit small b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198605000-00008
更新日期:1986-05-01 00:00:00
abstract:BACKGROUND:Short forms of IQ (S-IQ) assessments are time efficient and highly predictive of the full IQ (F-IQ) in healthy individuals. To investigate the validity of S-IQs for patients with neurodevelopmental impairments, this study tested a well-established S-IQ version in patients with congenital heart disease (CHD)....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0667-2
更新日期:2020-04-01 00:00:00
abstract::To determine the role of pili in mediating adherence of type b and nontypeable Haemophilus influenzae to several respiratory cell types, piliated bacteria, nonpiliated phase variants, and nonpiliated mutants possessing insertionally inactivated pilin genes were tested. Both piliated and nonpiliated strains adhered to ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199602000-00025
更新日期:1996-02-01 00:00:00
abstract::The ability of intravenously administered glucose or glucose oligosaccharides to supply 12% of the energy requirement of the growing miniature pig was determined. All pigs were fed a stock diet from days 5-28 of life, and a central venous catheter was inserted at 29 days. For the next 30 days, all pigs were fed both e...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198204000-00013
更新日期:1982-04-01 00:00:00
abstract::We studied the pre- and postnatal developmental regulation of the hepatic type I IGF receptor in the rat. Fetal rat liver membranes bound IGF-I throughout the latter part of gestation (d 17 to 21). After birth, binding diminished rapidly, reaching barely detectable levels by the 13th postnatal d. However, the presence...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199103000-00002
更新日期:1991-03-01 00:00:00
abstract::We studied chloride efflux from isolated rabbit pancreatic acini in suspension, by loading with 36Cl to steady state and rapidly washing acini by filtration to determine 36Cl cpm/micrograms DNA remaining. Linear loss of acinar chloride occurred over 5 min (k = 0.038 +/- 0.008 min-1, n = 5). Forskolin (5 x 10(-5) M) in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199106010-00002
更新日期:1991-06-01 00:00:00
abstract::The purpose of this study was to investigate the effect of constant light in a neonatal care unit on the development of the sleep-and-wakefulness rhythm in preterm infants. Two groups of infants (57 preterm infants without other complications and 58 healthy term infants) were prospectively studied over infancy by a da...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199302000-00014
更新日期:1993-02-01 00:00:00
abstract::Our aim was to obtain a better understanding of the differences between breast-feeding and bottle-feeding, particularly with regard to how sucking performance changes from nonnutritive sucking (NNS) to nutritive sucking (NS). Twenty-two normal term infants were studied while breast-feeding at 4 and 5 d postpartum. Fiv...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000214993.82214.1c
更新日期:2006-05-01 00:00:00
abstract::Previously, we have reported marked pulmonary inflammation in infants who develop chronic lung disease of prematurity. We revisited these infants who did not have clinical or laboratory evidence of infection and searched for Ureaplasma urealyticum, group B streptococci, and other microbes by reverse transcription-PCR ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000100757.38675.50
更新日期:2004-01-01 00:00:00
abstract::The incidence of allergic diseases has increased, and a relation between allergy and dietary fatty acids has been proposed. Modulation of the maternal immune function during pregnancy may have an impact on future clinical outcomes in the child. The aim of this study was to determine the effects of omega (omega)-3 long...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/PDR.0b013e3181aabd1c
更新日期:2009-08-01 00:00:00