当前位置： SCI文献检索 > JOURNAL OF PEDIATRIC SURGERY期刊下所有文献 > Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population.

Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population.

Abstract：

BACKGROUND:Hirschsprung disease (HSCR, Online Mendelian Inheritance in Man 142623) is a typical developmental disorder of the enteric nervous system in which ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. SOX10 gene is involved in the normal development of the enteric nervous system. Heterozygous SOX10 mutations have been identified in patients with syndromic HSCR. However, no mutations have been reported to date to be associated to isolated HSCR patient. We thus sought to investigate whether mutations in the SOX10 are associated with isolated HSCR in the Chinese population. METHODS:Polymerase chain reaction amplification and direct sequencing were used to screen 4 exons of the SOX10 gene for mutations and polymorphisms in 104 patients with sporadic HSCR and 96 ethnically matched controls in Han Chinese populations. RESULTS:In this study, 4 single nucleotide polymorphisms (SNPs) were identified: SNP1: c.18C>T (GAC→GAT) in exon 2; SNP2: c.122G>T (GGC→GTC) in exon 2; SNP3: IVS2+10 (C→G) in intron 2; and SNP4: c.927T>C (CAT→CAC) in exon 4. SNP1 and SNP2 were novel described polymorphisms in the Chinese population. No SOX10 mutations were found in Han Chinese with isolated HSCR. CONCLUSIONS:Our results revealed that there was no association between the 4 SNPs of the SOX10 gene and HSCR. This study showed that the SOX10 gene is unlikely to be a major HSCR gene in the Chinese Han population.

journal_name

J Pediatr Surg

journal_title

Journal of pediatric surgery

authors

Pan ZW,Lou J,Luo C,Yu L,Li JC

doi

10.1016/j.jpedsurg.2011.05.017

subject

Has Abstract

pub_date

2011-10-01 00:00:00

pages

1930-4

issue

10

eissn

0022-3468

issn

1531-5037

pii

S0022-3468(11)00444-1

journal_volume

46

pub_type

杂志文章

相关文献

JOURNAL OF PEDIATRIC SURGERY文献大全
  • Octreotide for chylous effusions in congenital diaphragmatic hernia.

    abstract：BACKGROUND/PURPOSE:Chylothorax is a frequent complication in congenital diaphragmatic hernia (CDH) infants and is associated with significant morbidity. The optimal treatment strategy remains unclear. We hypothesize that octreotide decreases chylous effusions in infants with CDH. METHODS:This is a retrospective study ...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2013.05.064

    authors： Landis MW,Butler D,Lim FY,Keswani S,Frischer J,Haberman B,Kingma PS

    更新日期：2013-11-01 00:00:00

  • Intraoperative measurement of rectourethral fistula: prevention of incomplete excision in male patients with high-/intermediate-type imperforate anus.

    abstract：INTRODUCTION:We report a novel technique to measure the length of the rectourethral fistula (RUF) in male patients with high-/intermediate-type imperforate anus during laparoscopically assisted anorectal pull-through (LAARP) to prevent incomplete excision. METHOD:During LAARP for RUF in 5 male patients (mean age, 4.6 ...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2009.10.085

    authors： Koga H,Kato Y,Shimotakahara A,Miyano G,Lane GJ,Okazaki T,Yamataka A

    更新日期：2010-02-01 00:00:00

  • Cystic lymphatic malformation of bladder presenting as a pelvic mass.

    abstract：:We report a 5-year-old boy with a cystic lymphatic malformation (LM) of bladder, and the imaging characteristics of the lesion are reported. Cystic LM of the urinary system is rare, and a location in the bladder is extremely rare. The exact mechanism of the lesion that occurs in bladder is unknown. This case is differ...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2011.03.016

    authors： Niu ZB,Hou Y,Sun RG,Chen H,Yang Y

    更新日期：2011-06-01 00:00:00

  • Avulsion of wandering spleen after traumatic torsion.

    abstract：:Wandering spleen usually causes clinical symptoms by torsion. Cases of torsion or hemorrhage after blunt trauma are reported. The authors experienced avulsion of wandering spleen after traumatic torsion in the victim of pedestrian injury. The spleen had been located in the left upper quadrant on the time of torsion, b...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1053/jpsu.2003.50136

    authors： Kim SC,Kim DY,Kim IK

    更新日期：2003-04-01 00:00:00

  • Paratesticular rhabdomyoma in a young adult: case study and review of the literature.

    abstract：:Paratesticular rhabdomyoma is a rare benign tumor, which usually presents as a painless mass in the scrotum or groin. We report the first case of a locally invasive paratesticular rhabdomyoma in a 17-year-old male teenager who presented with chronic scrotal pain. We further review the current literature of this rare t...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章,评审

    doi：10.1016/j.jpedsurg.2007.01.057

    authors： Davies B,Noh P,Smaldone MC,Ranganathan S,Docimo SG

    更新日期：2007-04-01 00:00:00

  • Efficacy of video-assisted thoracoscopic surgery in managing childhood empyema: a large single-centre study.

    abstract：BACKGROUND/PURPOSE:A randomised controlled trial evaluating the role of video-assisted thoracoscopic surgery (VATS) in childhood empyema reported a failure rate of 16.6%. Our aim is to determine the outcome of VATS in a large series of children managed by 3 paediatric surgeons experienced in endoscopic surgery. METHOD...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2008.10.083

    authors： Bishay M,Short M,Shah K,Nagraj S,Arul S,Parikh D,Jawaheer G

    更新日期：2009-02-01 00:00:00

  • Sexual problems in male patients older than 20 years with anorectal malformations.

    abstract：BACKGROUND/PURPOSE:The nervi erigentes in high- and intermediate-type male anorectal malformation (ARM) runs a relatively medial course and is vulnerable in sacro-perineal dissection. These types of ARM are also associated with a high frequency of sacral anomaly, and sexual problems may be expected. However, sexual fun...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2005.11.004

    authors： Konuma K,Ikawa H,Kohno M,Okamoto S,Masuyama H,Fukumoto H

    更新日期：2006-02-01 00:00:00

  • Experience of moral distress among pediatric surgery trainees.

    abstract：PURPOSE:The aim of this study was to identify and qualify the ethical dilemmas faced by pediatric surgery trainees. METHODS:An online survey was sent to pediatric surgery trainees graduating between 2005 and 2008. Consent was obtained, and study investigators were blinded to the identity of the respondents during data...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2008.02.016

    authors： Chiu PP,Hilliard RI,Azzie G,Fecteau A

    更新日期：2008-06-01 00:00:00

  • Prostatorectal fistula associated with tubular colorectal duplication.

    abstract：:Tubular colonic duplications are exceedingly rare. The authors present an unusual case of a boy with a persistent prostatorectal fistula resulting from a tubular colorectal duplication. The current case is unique for 2 reasons: (1) the presence of a fistula without any concomitant genitourinary anomalies and (2) the e...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(99)90126-4

    authors： Kokoska ER,Steinhardt GF,Tomita SS,Weber TR

    更新日期：1999-10-01 00:00:00

  • Primary squamous cell carcinoma arising at a gastrostomy tube site.

    abstract：:Gastrostomy tubes are commonly used in children with feeding impairment. Postoperative complications such as the formation of granulation tissue are common and represent a type of chronic nonhealing wound. We present a case of a 24-year-old man with no history of malignancy who developed a primary cutaneous squamous c...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2011.01.018

    authors： Oh PS,Gill KZ,Lynch LJ,Cowles RA

    更新日期：2011-04-01 00:00:00

  • Esophagogastric dissociation in the neurologically impaired: an alternative to fundoplication?

    abstract：BACKGROUND/PURPOSE:Gastroesophageal reflux is common in children with severe neurological impairment. Fundoplication may produce symptomatic improvement but has a high failure rate. Esophagogastric dissociation (EGD) is an alternative procedure for treatment of gastroesophageal reflux. The aim of this study is to evalu...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2005.03.004

    authors： Goyal A,Khalil B,Choo K,Mohammed K,Jones M

    更新日期：2005-06-01 00:00:00

  • Incidence of complications, organizational problems, and errors: Unexpected events in 1605 patients.

    abstract：PURPOSE:Besides surgical complications, a variety of adverse events may affect patients' comfort and outcome. The purpose of this prospective study was to identify the incidence and impact of all unexpected events in pediatric surgical patients. METHODS:All unexpected events that occurred in our department during the ...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2020.12.004

    authors： Zoeller C,Kuebler JF,Ure BM,Brendel J

    更新日期：2020-12-13 00:00:00

  • Central pancreatectomy with pancreaticogastrostomy in children.

    abstract：:Children requiring surgical intervention for pancreatic disease may be at risk long term for exocrine insufficiency and glucose intolerance. Pediatric surgeons must balance the need to perform adequate surgical resection while preserving as much normal pancreatic parenchyma as possible. Neoplasms of the middle pancrea...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2006.12.023

    authors： Fisher JC,Kuenzler KA,Bodenstein L,Chabot JA

    更新日期：2007-04-01 00:00:00

  • The incidence and surgical management of paratubal cysts in a pediatric and adolescent population.

    abstract：PURPOSE:The aim of this study is to determine the incidence of paratubal cysts (PTCs) in a pediatric and adolescent population. METHODS:An institutional review board-approved retrospective chart review was performed between the years of 1998 and 2008 at a single children's hospital. Inclusion criteria were met if path...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2011.04.054

    authors： Muolokwu E,Sanchez J,Bercaw JL,Sangi-Haghpeykar H,Banszek T,Brandt ML,Dietrich JE

    更新日期：2011-11-01 00:00:00

  • Diagnostic laparoscopy in childhood Crohn's disease.

    abstract：:In some children, contrast radiography and endoscopy fail to confirm suspected Crohn's disease, or fail to evaluate the extent of disease. This report documents seven cases in which laparoscopy was used to look for creeping mesenteric fat involving the small intestine, a pathological finding reported only for Crohn's ...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(96)90150-5

    authors： Miller GG,Blair GK,Murphy JJ

    更新日期：1996-06-01 00:00:00

  • Diagnostic advantages of manual compression fluoroscopy in the radiologic work-up of vomiting neonates.

    abstract：:This paper describes a simple and effective fluoroscopic technique that remarkably improves diagnostic accuracy when evaluating vomiting newborns. The technique also minimizes the time of the examination and the radiation dose to the patient and radiology personnel. Several examples are presented illustrating the supe...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(80)80135-7

    authors： Yousefzadeh DK,Soper RT,Jackson JH Jr

    更新日期：1980-06-01 00:00:00

  • External anal sphincter dysfunction and postoperative bowel habits of patients with Hirschsprung's disease.

    abstract：:An electromyogram (EMG) of the external and sphincter (EAS) was obtained both before and after surgery in five patients with Hirschsprung's disease and eight normal control patients. The EMG, evoked by the transrectal stimulation of the pudendal nerve, was recorded at both the sacral and anal regions to investigate th...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(97)90084-1

    authors： Kubota M,Kamimura T,Suita S

    更新日期：1997-01-01 00:00:00

  • Appendicitis in northern aboriginal children: does delay in definitive treatment affect outcome?

    abstract：BACKGROUND:The treatment of northern aboriginal children (NAC) is often complicated by distance from a treating facility. We sought to compare outcomes of NAC requiring transfer with appendicitis to those who presented locally. We hypothesized that NAC with appendicitis experienced higher rates of perforation and incre...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2010.02.008

    authors： Beres A,Al-Abbad S,Puligandla PS

    更新日期：2010-05-01 00:00:00

  • Sodium cromoglycate in the management of chronic or recurrent enterocolitis in patients with Hirschsprung's disease.

    abstract：BACKGROUND/PURPOSE:Chronic or recurring enterocolitis is a rare but perplexing complication of Hirschsprung's disease affecting especially patients with altered immune defense such as those with Down's syndrome. Sodium cromoglycate (SCG) is a nonabsorbable mast cell stabilizing agent that has been documented to be effe...

    journal_title：Journal of pediatric surgery

    pub_type： 临床试验,杂志文章

    doi：10.1053/jpsu.2001.24732

    authors： Rintala RJ,Lindahl H

    更新日期：2001-07-01 00:00:00

  • Tracheal occlusion alters pulmonary circulation in the fetal lamb with normally developing lungs.

    abstract：BACKGROUND:Tracheal occlusion (TO) promotes fetal lung growth through an increase in intraluminal pressure. Although evidence suggests that fetal TO (FETO) decreases the occurrence of pulmonary hypertension in severe congenital diaphragmatic hernia, controversies on its effect on the pulmonary circulation remain. There...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2012.08.024

    authors： Aubry E,Fayoux P,Jani J,Deprest J,Deruelle P,Houfflin-Debarge V,Storme L

    更新日期：2013-03-01 00:00:00

  • Tracheoplasty for congenital stenosis of the entire trachea.

    abstract：:Congenital stenosis involving the entire length of the trachea has generally been regarded as a fatal disease. Tracheoplasty using costal cartilage grafts to enlarge the lumen was successfully employed in such a case, and the technique is described. A 12-mo-old female was referred with recurrent severe respiratory dis...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(82)80458-2

    authors： Kimura K,Mukohara N,Tsugawa C,Matsumoto Y,Sugimura C,Murata H,Itoh H

    更新日期：1982-12-01 00:00:00

  • Splenic torsion in a wandering spleen, presenting as an acute abdominal mass.

    abstract：:A childhood splenic torsion presenting as an acute abdominal mass is reported. ...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/0022-3468(94)90096-5

    authors： Greig JD,Sweet EM,Drainer IK

    更新日期：1994-04-01 00:00:00

  • Splenic cysts: aspiration, sclerosis, or resection.

    abstract：:Percutaneous aspiration and tetracycline sclerosis is a safe but temporary therapy of large splenic cysts in children. Between 1985 and 1987, three girls with splenic cysts were seen. Their ages ranged from 5 to 14 years, and the cysts were from 8 to 16 cm in diameter. Despite their large size, all were asymptomatic a...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(89)80711-0

    authors： Moir C,Guttman F,Jequier S,Sonnino R,Youssef S

    更新日期：1989-07-01 00:00:00

  • Helicobacter pylori infection in a child with gastric augmentation.

    abstract：:The existence of Helicobacter pylori (HP) infection in those children who had previous bladder augmentation with gastric patch has not been described before. In this report, a girl with bladder exstrophy, who previously underwent gastric augmentation is presented. She had multiple admissions to our unit with persistin...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(97)90527-3

    authors： Celayir S,Göksel S,Unal T,Büyükünal SN

    更新日期：1997-12-01 00:00:00

  • Management of breast lesions in children and adolescents.

    abstract：:The records of 207 patients evaluated and treated for breast abnormalities during a 10-yr period were reviewed. Patients ranged in age from 1 wk through 16 yr. Seventy-eight per cent were female. Operative procedures were performed in 134 patients (64%). Most common diagnoses were fibroadenoma, premature thelarche, an...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(76)80187-x

    authors： Bower R,Bell MJ,Ternberg JL

    更新日期：1976-06-01 00:00:00

  • Risk-stratification of severity for infants with CDH: Prenatal versus postnatal predictors of outcome.

    abstract：PURPOSE:The purpose of this study was to compare the predication accuracy of a newly described postnatally-based clinical prediction model to fetal imaging-based predictors of mortality for infants with CDH. METHODS:We performed a retrospective review of all CDH patients treated at a comprehensive fetal care center fr...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2015.10.009

    authors： Akinkuotu AC,Cruz SM,Abbas PI,Lee TC,Welty SE,Olutoye OO,Cassady CI,Mehollin-Ray AR,Ruano R,Belfort MA,Cass DL

    更新日期：2016-01-01 00:00:00

  • The role of coagulase-negative Staphylococcus in neonatal necrotizing enterocolitis.

    abstract：:Coagulase-negative Staphylococcus has emerged as a prominent pathogen in the neonatal intensive care unit and a recent report has implicated this organism in necrotizing enterocolitis (NEC). This same study suggests that Staphylococcus epidermidis is most commonly associated with a "mild form of enterocolitis." This p...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(88)80542-6

    authors： Mollitt DL,Tepas JJ,Talbert JL

    更新日期：1988-01-01 00:00:00

  • Posttraumatic Budd-Chiari syndrome with late reversibility of hepatic venous obstruction.

    abstract：:A peritoneo-venous shunt was inserted in a 15-mo-old infant with Budd-Chiari syndrome following hepatic trauma. Ascites resolved and late renewed patency of the right hepatic vein was demonstrated. ...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/s0022-3468(79)80240-7

    authors： Klein MD,Philippart AI

    更新日期：1979-12-01 00:00:00

  • Fine clinical differences between patients with multifocal and diffuse hepatic hemangiomas.

    abstract：BACKGROUND:It has been reported that multifocal and diffuse hepatic hemangiomas are true infantile hemangiomas for which a continuum probably exists. We determined the similarities and fine differences between the two types of hemangioma and identified the multifocal subgroup of type, which needs timely treatment. MAT...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2016.09.045

    authors： Li K,Wang Z,Liu Y,Yao W,Gong Y,Xiao X

    更新日期：2016-12-01 00:00:00

  • Restored immune response to an MHC-II-Restricted antigen in tumor-bearing hosts after elimination of regulatory T cells.

    abstract：BACKGROUND/PURPOSE:Pediatric sarcomas have a poor prognosis, recur frequently, and are not effectively treated by currently available therapy. Immunotherapy is a promising treatment modality; however, to be successful, immune tolerance must be overcome. CD4+CD25+ T cells are immunosuppressive. The authors hypothesize t...

    journal_title：Journal of pediatric surgery

    pub_type： 杂志文章

    doi：10.1016/j.jpedsurg.2004.02.049

    authors： Nicholl M,Lodge A,Brown I,Sugg SL,Shilyansky J

    更新日期：2004-06-01 00:00:00