Identification of novel genes in Hirschsprung disease pathway using whole genome expression study.

Abstract:

AIM:This study aims to identify new genes not described previously that may be relevant in the etiology or pathophysiology of patients with Hirschsprung disease (HD). This was done by identifying differences in gene expression between normal and abnormal segments of bowel in HD patients compared with controls. METHODS:Full-thickness colonic tissue samples were taken from HD patients, both from the diseased (Ds) and normal segment of the colon (Nr), and from controls (Ct). Samples were further dissected into mucosa (MUC) and muscle (MUS). RNA was extracted and analyzed on Affymetrix Gene Chip Human Gene 1.0 ST arrays. Statistical analyses using ANOVA with a fold change cut off of 2 was applied to detect a number of differentially expressed genes. Selected genes were revalidated by quantitative real-time reverse transcriptase polymerase chain reaction. RESULTS:Thirty-four samples (18 MUS and 16 MUC) were analyzed. MUC (1.64 ± 0.46 μg/mg) and MUS (0.83 ± 0.48 μg/mg) showed good RNA extraction yield and quality. Of the 24,987 filtered on expression genes, MUS showed 220 genes with expression difference of 2-fold, out of which 120 genes were significant with P ≤ .05. Similarly, MUC demonstrated 206 genes with 2-fold changes and 9 had P ≤ .05. Some genes showing differential expression between groups and therefore subject to further analysis were RELN, GAL, GAP43, NRSN1, and GABRG2. CONCLUSION:Analyzed data showed significant differences in expression of above sets of genes with up- and down-regulation, which has not been described before in HD and could have a role in pathogenesis of this condition.

journal_name

J Pediatr Surg

authors

Saeed A,Barreto L,Neogii SG,Loos A,McFarlane I,Aslam A

doi

10.1016/j.jpedsurg.2011.11.017

subject

Has Abstract

pub_date

2012-02-01 00:00:00

pages

303-7

issue

2

eissn

0022-3468

issn

1531-5037

pii

S0022-3468(11)00997-3

journal_volume

47

pub_type

杂志文章
  • Pretreatment with edaravone reduces lung mitochondrial damage in an infant rabbit ischemia-reperfusion model.

    abstract:PURPOSE:Free radical scavenger edaravone has been approved as a new drug for treatment of stroke patients. The purpose of this study was to examine whether pretreatment with edaravone could attenuate ischemia-reperfusion (IR)-induced lung damage in infant rabbits. METHODS:New Zealand White rabbits (Experimental Animal...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2008.05.019

    authors: Qiu W,Gu H,Zheng L,Zhou J,Chen D,Chen Y

    更新日期:2008-11-01 00:00:00

  • Evaluation of the expression of I-FABP and L-FABP in a necrotizing enterocolitis model after the use of Lactobacillus acidophilus.

    abstract:BACKGROUND/PURPOSE:Necrotizing enterocolitis (NEC) is a severe intestinal disease that primarily affects premature babies, leading to high mortality and morbidity. Probiotics represent an important alternative prophylaxis for NEC but its mechanism of action is poorly understood. Moreover, intestinal and liver-type fatt...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2014.07.007

    authors: Gonçalves FL,Soares LM,Figueira RL,Simões AL,Gallindo RM,Sbragia L

    更新日期:2015-04-01 00:00:00

  • Pediatric firearm injuries: Racial disparities and predictors of healthcare outcomes.

    abstract:BACKGROUND/PURPOSE:The U.S. has an alarming rate of firearm injuries. Racial disparities among victims and predictors of outcomes are not well established. Our objective was to assess costs, length of stay (LOS), and inpatient mortality among nonfatal and fatal pediatric firearm injuries that required hospitalization. ...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2020.02.021

    authors: Hughes BD,Cummins CB,Shan Y,Mehta HB,Radhakrishnan RS,Bowen-Jallow KA

    更新日期:2020-08-01 00:00:00

  • Segmental defect of the intestinal musculature associated with ileal atresia and biliary atresia.

    abstract::A full-term baby boy with a segmental defect of the ileal musculature associated with terminal ileal and biliary atresia is presented. The newborn had a dilated loop of the ileum 30 cm proximal to the ileal atretic site. Pathological study results showed absence of the intestinal musculature with relatively intact muc...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(98)90101-4

    authors: Fu T,Cui X,Wang X,Fu Z

    更新日期:1998-03-01 00:00:00

  • Experience with a hybrid, minimally invasive gastrostomy for children with abnormal epigastric anatomy.

    abstract:PURPOSE:This communication is an analysis of the experience with a new type of gastrostomy. It was developed for patients with pronounced epigastric anatomical abnormalities, such as dense adhesions, in whom the conventional "open" gastrostomy could prove difficult and the percutaneous endoscopic, the imaging-guided, a...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2008.08.043

    authors: Gauderer MW

    更新日期:2008-12-01 00:00:00

  • Embryonal rhabdomyosarcoma of the lung arising in cystic adenomatoid malformation: case report and review of the literature.

    abstract::Rhabdomyosarcoma (RMS) of the lung is a very rare lesion, but the association with cystic adenomatoid malformation (CCAM) is unlikely to be a coincidence. Although the etiologic factors predisposing infants and children to pulmonary neoplasms are unknown, pulmonary developmental abnormalities may play a pathogenetic r...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章,评审

    doi:10.1016/s0022-3468(97)90329-8

    authors: d'Agostino S,Bonoldi E,Dante S,Meli S,Cappellari F,Musi L

    更新日期:1997-09-01 00:00:00

  • Validation of surgeon-performed emergency abdominal ultrasonography in pediatric trauma patients.

    abstract:BACKGROUND/PURPOSE:The focused assessment for the sonographic evaluation of trauma patients (FAST) in adults is effective in detecting intraperitoneal and intrapericardial fluid and can be performed quickly by surgeons in the emergency department (ED). The authors sought to validate the accuracy of FAST performed by su...

    journal_title:Journal of pediatric surgery

    pub_type: 临床试验,杂志文章

    doi:10.1016/s0022-3468(98)90455-9

    authors: Thourani VH,Pettitt BJ,Schmidt JA,Cooper WA,Rozycki GS

    更新日期:1998-02-01 00:00:00

  • Early postoperative fever workup in children: utilization and utility.

    abstract:BACKGROUND:Early postoperative fever is common. Adult data indicate that workup is unnecessary in the early postoperative period, but comparable data in children is limited. The objectives are to determine the incidence of fever and the utilization and yield of tests ordered in children. METHODS:Single-institution, re...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2017.06.019

    authors: Corkum KS,Hunter CJ,Grabowski JE,Lautz TB

    更新日期:2018-07-01 00:00:00

  • Intraoperative cardiopulmonary resuscitation in the prone position.

    abstract::Cardiopulmonary resuscitation (CPR) occasionally is necessary in the operating-room setting. In such instances, it may be difficult to perform CPR if the patient is in the prone position. Although the supine position is optimal for CPR, it may not be feasible because of the risks of damage to craniospinal structures. ...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/0022-3468(94)90208-9

    authors: Tobias JD,Mencio GA,Atwood R,Gurwitz GS

    更新日期:1994-12-01 00:00:00

  • An unusual presentation of a congenital intrahepatic arterioportal fistula in an infant with Down syndrome.

    abstract::Congenital intrahepatic arterioportal fistula is a rare entity that most often presents with symptoms of portal hypertension and malabsorption. We discuss a patient who presented with distributive shock, congestive heart failure, pulmonary hypertension, ascites, and a history of severe constipation. ...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2010.08.016

    authors: Bogert JN,Potter DD,Crow S,Arteaga GM,Freese DK

    更新日期:2011-01-01 00:00:00

  • From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature.

    abstract::Branchial abnormalities constitute 32% to 45% of all neck pathologies in children. They may be a part of branchiootorenal (BOR) syndrome, which is characterized by branchial arch anomalies, preauricular pits, hearing impairment, and renal malformations. Typically, the management of a branchial fistula does not necessa...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章,评审

    doi:10.1016/j.jpedsurg.2008.10.034

    authors: Senel E,Kocak H,Akbiyik F,Saylam G,Gulleroglu BN,Senel S

    更新日期:2009-03-01 00:00:00

  • Clinical use of an extracorporeal membrane oxygenator in neonatal pulmonary failure.

    abstract::Pulmonary failure is the most frequent cause of mortality in newborns, accounting for 15,000 deaths yearly. It may be the result of the respiratory distress syndrome (RDS), meconium aspiration syndrome (MAS), or persistent fetal circulation (PFC), including infants with congenital diaphragmatic hernia (CDH). Early ide...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(82)80102-4

    authors: Krummel TM,Greenfield LJ,Kirkpatrick BV,Mueller DG,Ormazabal M,Salzberg AM

    更新日期:1982-10-01 00:00:00

  • Transanal mucosectomy: a modification of the Soave procedure for Hirschsprung's disease.

    abstract::In the Soave procedure for Hirschsprung's disease, the mucosectomy of the aganglionic segment of colon is performed transabdominally. The authors describe an innovative modification of the standard Soave procedure, in which a transanal mucosectomy is performed as the abdominal incision is made. The transanal mucosecto...

    journal_title:Journal of pediatric surgery

    pub_type: 临床试验,杂志文章

    doi:10.1016/s0022-3468(96)90249-3

    authors: Saltzman DA,Telander MJ,Brennom WS,Telander RL

    更新日期:1996-09-01 00:00:00

  • New techniques in the diagnosis and operative management of Siamese twins.

    abstract::New techniques of 2-D sonography and radionucleotide Disofenin scanning allowed noninvasive evaluation of thoracoomphalopagus Siamese twins and successful separation at four days of age. Twin girls joined at the lower sternum and upper abdomen and weighing 15 lbs, were transferred at five hours of age after caesarian-...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(83)80184-5

    authors: Miller D,Colombani P,Buck JR,Dudgeon DL,Haller JA Jr

    更新日期:1983-08-01 00:00:00

  • Laparoscopic repair of traumatic bowel injury in children.

    abstract:PURPOSE:The aim of this study was to evaluate the laparoscopic repair of isolated intestinal injuries in children who sustain focal abdominal trauma. METHODS:A retrospective review was conducted of all patients 16 years and younger who required surgery for traumatic bowel injuries during a 5-year period at 2 universit...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2006.06.049

    authors: Streck CJ,Lobe TE,Pietsch JB,Lovvorn HN 3rd

    更新日期:2006-11-01 00:00:00

  • Megacystis-microcolon-intestinal hypoperistalsis syndrome: survival of a male infant.

    abstract::The combination of megacystis with microcolon and severe intestinal hypoperistalsis constitutes a rarely encountered syndrome in neonates. Of 16 previously reported cases, 14 have occurred in females and all but one have been fatal. Various forms of intestinal diversions have been unsuccessful. Aganglionosis has been ...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(85)80122-6

    authors: Gillis DA,Grantmyre EB

    更新日期:1985-06-01 00:00:00

  • Presentation and management of epigastric hernias in children.

    abstract:BACKGROUND/PURPOSE:Although epigastric hernias are common, there are no reports that describe the presentation and treatment of these defects in children. The authors reviewed their experience with these hernias to develop recommendations for their management in this age group. METHODS:Medical records were reviewed fo...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1053/jpsu.2000.19242

    authors: Coats RD,Helikson MA,Burd RS

    更新日期:2000-12-01 00:00:00

  • Castleman disease: surgical cure in pediatric patients.

    abstract::Castleman disease is a rare disorder characterized by lymphoid hyperplasia which rarely manifests in children. We present 2 cases which highlight both histologic variants of this disease, and provide suggestions regarding workup and treatment with the goal of making practitioners aware of Castleman disease in the diff...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2008.09.024

    authors: Buesing K,Perry D,Reyes C,Abdessalam S

    更新日期:2009-01-01 00:00:00

  • Lipid uptake by silicone enteral access feeding devices.

    abstract:BACKGROUND/PURPOSE:Deterioration of long-term enteral access devices remains a significant patient care and financial problem. Because it is known that lipids, particularly medium-chain triglycerides oil (MCT oil), can soften and break certain types of polymeric materials, the authors evaluated the effect of liquid ent...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(98)90665-0

    authors: Trudel J,Gauderer MW,Drews MJ,LaBerge M

    更新日期:1998-06-01 00:00:00

  • Single-stage feminizing genitoplasty in aphallia through an anterior saggital approach.

    abstract:PURPOSE:An ideal feminizing genitoplasty in aphallia should achieve good cosmesis and capacious vagina in a single-stage repair. Most of the techniques described in the literature are variations of the posterior sagittal approach with staged repair. We describe a single-stage anterior sagittal approach for feminizing g...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2009.07.032

    authors: Mane SB,Thakur A,Dhende NP,Obaidah A,Acharya H

    更新日期:2009-11-01 00:00:00

  • Surgical repair of pectus excavatum.

    abstract::From 1958 to March 1987 we corrected 704 patients with pectus excavatum. The condition occurred more frequently in boys (544 patients) than girls (160 patients). In the majority of patients (86%), the defect was evident at birth or within the first year of life. Musculoskeletal abnormalities were identified in 133 pat...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(88)80629-8

    authors: Shamberger RC,Welch KJ

    更新日期:1988-07-01 00:00:00

  • Nonoperative management in children with early acute appendicitis: A systematic review.

    abstract:PURPOSE:Appendectomy has remained the gold standard treatment of acute appendicitis for more than 100years. Nonoperative management (NOM) has been shown to be a valid treatment alternative for acute uncomplicated appendicitis in adults. A systematic review of available evidence comparing operative management (OM) and N...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章,评审

    doi:10.1016/j.jpedsurg.2017.05.003

    authors: Xu J,Adams S,Liu YC,Karpelowsky J

    更新日期:2017-09-01 00:00:00

  • The impact of variation in access to care on the management of Hirschsprung disease.

    abstract:INTRODUCTION:Variation in access to care has a significant impact on the disease management process and outcomes. Variable access to care might have similar effects on the management of Hirschsprung disease (HD). However, such variation has not been highlighted. MATERIALS AND METHODS:All patients referred to 3 academi...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.jpedsurg.2012.01.052

    authors: Al-Jazaeri A,Al-Shanafey S,Zamakhshary M,Al-Jarbou W,Hajr E,Breakeit M,Qutob S

    更新日期:2012-05-01 00:00:00

  • Gastrointestinal function after surgical correction of Hirschsprung's disease: long-term follow-up in 135 patients.

    abstract::This study is a retrospective review of all children treated for Hirschsprung's disease over the past 22 years at a single pediatric institution. During this time 177 patients had definitive surgical reconstruction. Five children died of causes unrelated to Hirschsprung's disease, and five children died from enterocol...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/0022-3468(95)90682-7

    authors: Marty TL,Seo T,Matlak ME,Sullivan JJ,Black RE,Johnson DG

    更新日期:1995-05-01 00:00:00

  • Peripherally located congenital arteriovenous fistulae in infancy and childhood.

    abstract::Significant macrofistulae between arteries and veins of congenital origin may result in the extremes of life-threatening hemorrhage or simply a cosmetically displeasing mass. The most helpful diagnostic aid is that of adequate arteriography both to determine the size, location, and extent of the fistulae. After adequa...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(77)80003-1

    authors: Woolley MM,Stanley P,Wesley JR

    更新日期:1977-04-01 00:00:00

  • Clinical characteristics and conservative treatment of perineal groove.

    abstract:PURPOSE:Perineal groove is a rare congenital anomaly of the perineum, and only a few papers describing a small number of cases have been reported in the medical literature. This study aimed to evaluate the clinical characteristics and proper management of perineal groove. METHODS:We performed a retrospective review of...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2019.07.017

    authors: Ihn K,Na Y,Ho IG,Oh JT

    更新日期:2020-08-01 00:00:00

  • A method for recovering a lost retrieval line under direct vision in children with esophageal strictures.

    abstract::Loss of a retrieval line for repeated esophageal dilations for caustic esophageal stricture may result in inability to dilate these strictures. We describe a simple means for retrieving such a line once it has been removed. ...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(88)80145-3

    authors: Mercer CD,Hall SF,Kerr JW

    更新日期:1988-02-01 00:00:00

  • Surgical implications of necrotizing fasciitis in children with chickenpox.

    abstract::Varicella (chickenpox) affects approximately 90,000 children each year. Although most cases resolve, some develop necrotizing soft tissue infections secondary to group A streptococcus and staphylococcus. Delay in diagnosis is common. At the time of initial presentation, the need for surgical intervention is not always...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(96)90103-7

    authors: Waldhausen JH,Holterman MJ,Sawin RS

    更新日期:1996-08-01 00:00:00

  • Occult, life-threatening, cardial tumor in syndactylism in Gorlin Goltz syndrome.

    abstract::Pediatric, orthopedic, plastic, and hand surgeons perform the surgical correction of syndactylism. It is sometimes forgotten, however, that syndactylism can be part of a syndrome. The components of such a syndrome can each be life threatening. A 7-month-old boy was hospitalized for correction of cutaneous syndactylism...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/j.jpedsurg.2004.06.042

    authors: Doede T,Seidel J,Riede FT,Vogt L,Mohr FW,Schier F

    更新日期:2004-10-01 00:00:00

  • Plication of the diaphragm for symptomatic phrenic nerve paralysis.

    abstract::Paralysis of the diaphragm in infants may produce severe respiratory difficulty because of the paradoxic motion of the affected diaphragm and shift of a mobile mediastinum to the contralateral side. Six infants with diaphragmatic paralysis and severe respiratory distress underwent plication of the diaphragm by a simpl...

    journal_title:Journal of pediatric surgery

    pub_type: 杂志文章

    doi:10.1016/s0022-3468(78)80397-2

    authors: Schwartz MZ,Filler RM

    更新日期:1978-06-01 00:00:00