Publications (10)12.86 Total impact
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Article: Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.
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ABSTRACT: PURPOSE: The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand-foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and anorectum development in human embryos. METHOD: A Chinese family with intrafamilial clinically variable manifestation was analyzed and primers were designed for exons 3-14 of P63, DLX5, DLX6, DAC, and HOXD13 as candidate genes and direct sequence analysis of the exons was performed. Immunohistochemical study of mutated gene in the hindgut and anorectum of human embryos of 4th-10th weeks was performed. RESULT: Affected individuals were found to have an Arg227Gln P63 gene mutation. From the 4th-10th weeks of gestation of the human embryo, the P63-positive cells were mainly located on the epithelium of the apical urorectal septum, hindgut, and cloacal membrane. After the anorectum ruptured during the 8th week, the P63 remained strongly immunoreactive on the epithelium of the anal canal and urethra, but the mucous membrane of the rectum exhibited no reaction. CONCLUSIONS: The mutation identified strongly suggests a causal relationship between the ARM phenotype and P63. The expression of P63 was persistently active during the dynamic and incessant septation of the cloaca and hindgut, suggesting that P63 may play a pivotal role in the morphogenesis of the hindgut and anorectum.International Journal of Colorectal Disease 06/2013; · 2.38 Impact Factor -
Article: Preliminary investigation of the diagnosis of neonatal congenital esophageal atresia using high-resolution ultrasonography: A report of three cases.
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ABSTRACT: To investigate the clinical value of high-resolution ultrasonography (US) in the diagnosis of neonatal congenital esophageal atresia. Longitudinal or oblique mediastinal and abdominal scans were performed using a high-frequency, linear array Philip IU22 probe of 5-13MHz to measure the length and diameter of the upper and lower esophageal pouches, as well as the gap length. Three neonates with esophageal atresia received surgical treatment. For each case, the length and diameter of the blind upper and/or lower esophageal pouches were measured by ultrasonography. The gaps in two of three cases were long (>3cm), and in one case, it was short (<2cm). High-resolution ultrasonography can demonstrate clearly the upper and lower pouches, as well as wall features, and has a clear advantage in measuring the length of the lower esophageal pouch and the gap, which is impossible with plain radiography and esophagography. The drawback is that ultrasonography failed to clearly demonstrate the fistula between the esophagus and the trachea. Despite this, high-resolution ultrasonography is a promising modality in the clinical diagnosis of esophageal atresia.Journal of Pediatric Surgery 04/2013; 48(4):713-5. · 1.45 Impact Factor -
Article: The value of preoperative CT scan in newborns with type C esophageal atresia.
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ABSTRACT: This study was designed to evaluate the accuracy of preoperative CT scan in depicting the structure of type C esophageal atresia (EA) and determine its role in planning the surgical strategy by digitally measuring the interpouch distance. Thirty-five neonates (20 males, 15 females) born with type C EA were enrolled in this study. A helical CT scan was performed after chest radiographs of the neonates with a coiled oroesophageal tube in the upper esophageal pouch. The interpouch distances measured on CT images were compared with the findings at surgery. With the use of helical CT scan, the structure of EA-TEF was accurately depicted; the origins of the fistula and the interpouch distance were defined. The interpouch distance detected by CT scan correlated well with the findings at surgery. Statistical analysis demonstrated no significant difference (R = 0.99, P < 0.001). CT scan findings were crucial in planning the surgical strategy in 14 patients (40%). Preoperative CT scan could provide more accurate information about the origin of the fistula and the interpouch distance in type C EA and played a crucial role in planning the surgical strategy.Pediatric Surgery International 04/2012; 28(7):677-80. · 1.25 Impact Factor -
Article: Communicating esophageal tubular duplication in a newborn infant.
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ABSTRACT: We describe a communicating esophageal duplication in a newborn infant, without any other associated congenital anomalies. The diagnosis of esophageal duplication was achieved by a contrast study of the esophagus with diatrizoate and computed tomographic scan. Surgical excision of the esophageal duplication was carried out. At the 1-year follow-up examination, the patient was doing well.Journal of Pediatric Surgery 08/2011; 46(8):1655-7. · 1.45 Impact Factor -
Article: Proteomic analysis of differentially expressed proteins between stenotic and normal colon segment tissues derived from patients with Hirschsprung's disease.
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ABSTRACT: Hirschsprung's disease (HSCR) is the most common identifiable developmental disorder of the enteric nervous system. The present study was designed to analyze the differential proteomic patterns in stenotic colon segment tissues from patients with HSCR. We analyzed 20 paired stenotic and normal colon segment tissues from patients with HSCR, and identified 13 proteins from stenotic segment tissues peptide fingerprint mapping and SELDI MS that were separated using 2-DE. The protein levels of four selected proteins (α-actinin-4, ACTN4; myosin regulatory light chain interacting protein, MYLIP; fatty acid binding protein 7, FABP7; bone morphogenetic protein receptor type 1A, BMPR1A) were further validated by Western blot analysis. This study, investigating for the first time proteomic changes in stenotic colon segment tissues from patients with HSCR, provides potential markers or promising new candidate actors for the pathogenesis of HSCR.The Protein Journal 02/2011; 30(2):138-42. · 1.04 Impact Factor -
Article: Correlating of GSTM1, GSTT1, and GSTP1 genetic polymorphisms with the risk and expressions in children with isolated Hirschsprung disease.
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ABSTRACT: The present study aimed to examine an association between the glutathione S-transferases (GSTs) polymorphisms (GSTM1, GSTT1, and GSTP1) genetic polymorphisms with the risk and expression in children with isolated Hirschsprung disease (HD). GSTM1, GSTT1, and GSTP1 genetic polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism analysis in 80 HD and 180 normal children (controls). The genic expressions were detected by semi-quantitative reverse transcription polymerase chain reaction (RT-PCR) and real-time quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR). The protein expressions were detected by Western blot. The GSTM1 null genotype especially is associated with a greater risk of HD (X(2) = 1.129, P = 0.288, OR = 0.851, 95% CI = 0.632-1.146). The GSTT1 null genotype especially is associated with a greater risk of HD (X(2) = 6.165, P = 0.013, OR = 1.472, 95% CI = 1.084-1.999). The GSTP1 null genotype especially is associated with a greater risk of HD (X(2) = 4.748, P = 0.029, OR = 0.701, 95% CI = 0.509-0.964). GSTP1 and GSTP1 expressions were higher than GSTM1 in HD patients. Positive expressive rate of the GSTT1 and GSTP1 were 40.56% and 56.67% in HD. The mRNA and protein expressions level of GSTT1 and GSTP1 genes were significantly higher in HD than controls (P < 0.05). Positive expressive rate of the GSTM1 was 10.56% in HD. The GSTM1 was low expressed between in HD and controls (P > 0.05). The GSTP1 genetic polymorphisms correlate to HD. We postulate that inherited gene deletion of GSTT1 and GSTP1 may produce increased genotoxic susceptibility for HD respectively, following exposure to xenobiotics that are substrates for these enzymes.International Journal of Colorectal Disease 01/2011; 26(1):117-25. · 2.38 Impact Factor -
Article: Experience in treating congenital esophageal atresia in China.
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ABSTRACT: The aim of the study was to evaluate our recent experience in treating esophageal atresia (EA) and the outcomes observed at a single center for pediatric surgery. The records of infants with EA from 2006 to 2009 were reviewed. Birth weight, associated anomalies, details of management, complications, and outcomes were examined. Forty-eight consecutive infants with EA were identified from 2006 to 2009, of which 33 (69%) were boys. Mean birth weight was 2668 g (range, 1700-3800 g). Common associated malformations (35%) were cardiac anomalies, imperforate anus, limb anomalies, and chromosomal anomalies. Forty-seven were Gross type C, and one was Gross type A. Forty-five infants underwent ligation of the tracheoesophageal fistula and end-to-side primary anastomosis, and one received a colonic interposition. Six patients died (12.5% mortality). Three died before or during operation because of severe pneumonia and complex cardiac anomalies, and 3 died during recovery (within 1 month after repair) because of aspiration and severe pneumonia (early postoperative mortality was 6.67%). Complications included pneumonia, anastomotic leakage (16%, all recovered after conservative treatment), wound sepsis (11%), recurrent tracheoesophageal fistula (9%) (3/4 recovered after conservative treatment), anastomotic stricture (10%), and gastroesophageal reflux in about 2 of 3 patients. Preoperative computed tomographic imaging and 3-dimensional graphic reconstruction used in 15 patients were useful. Most patients with EA have excellent short- to midterm surgical outcomes. The main factors for mortality are complex cardiac anomalies, aspiration, and pneumonia. Computed tomographic imaging and 3-dimensional graphic reconstruction can provide surgeons with excellent preoperative reference about the anatomy of the defect. Most anastomotic related complications resolve with conservative treatment. Patients of low-risk prognosis group with type A and long gap EA can be managed with a primary colonic interposition with good results. The main midterm complications are gastroesophageal reflux and stricture.Journal of Pediatric Surgery 10/2010; 45(10):2009-14. · 1.45 Impact Factor -
Article: Rectosigmoid tubular duplication presenting as perineal sepsis in a neonate.
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ABSTRACT: Tubular rectal duplication is a very rare congenital anomaly. We report a case of tubular rectal duplication in a newborn baby who presented with perianal sepsis. The diagnosis was confirmed by barium enema, magnetic resonance imaging, and at operation. We performed total mucosectomy through a posterior sagittal incision combined with laparotomy. The patient was doing quite well at 17-month follow-up examination.Journal of Pediatric Surgery 03/2010; 45(3):627-9. · 1.45 Impact Factor -
Article: [Association of single nucleotide polymorphisms of Axis inhibitor-2 gene rs224030, rs8081536, rs9913621 with Hirschsprung disease].
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ABSTRACT: To investigate the association of Axis inhibitor-2 (AXIN2) gene rs2240308, rs8081536 and rs9913621 single nucleotide polymorphisms (SNPs) with Hirschsprung disease(HSCR). DNA was extracted from 120 HSCR patients and 120 healthy controls. The AXIN2 gene exon2-rs2240308, exon5- rs8081536 and exon6-rs9913621 were amplified by polymerase chain reaction (PCR). SNPs of AXIN2 gene were analyzed by restrictive endonuclease digestion with CviJI, DdeI and BstNI and DNA sequencing. The allele and genotype frequencies and risk factors of HSCR and control group were analyzed by Chi-square test. No significant differences were found in genotype frequencies of CC and CT in AXIN2 rs8081536 between HSCR patients and the control group (P> 0.05). The frequencies of genotypes GG, AG and AA as well as alleles A and G genotypes in AXIN2 gene rs2240308 locus were found to be associated with HSCR (P< 0.05). The disease risk of genotypes GG and AA and allele G with was 2.091, 0.846 and 1.703, respectively. The frequencies of genotypes CC, CT and TT as well as alleles C and T in AXIN2 gene rs9913621 locus were also associated with HSCR (P< 0.05). The disease risk of the genotypes CC and TT and the allele T was 0.535, 1.113 and 1.569, respectively. Heterozygote mutation for rs2240308 was found in the HSCR patients, i.e. the GCA to CCA mutation at position 301. Heterozygosity for rs9913621 was observed in the HSCR patients, i.e. the CAC to CAG mutation at position 199. The rs8081536 allelic variation in AXIN2 gene does not contribute to the susceptibility of HSCR in the patients. AXIN2 rs2240308 and rs9913621 allelic variation might be related to HSCR. Individuals having allele G and T in these loci are at relatively high risk for HSCR.Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 01/2009; 25(6):697-700. -
Article: [Levels and clinical significance of CD44 (intron 9) and CD44v6 in malignant cerebroma].
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ABSTRACT: To investigate the expression of CD44 (intron 9) and CD44v6 in brain neoplasm. CD44 (intron 9) and CD44v6 were detected in malignant meningoma, encephalic glioma, and normal encephalic tissues around the brain noeplasm respectively by using RT-PCR. The positive expression rate of CD44v6 was 92.86% (26/28) in malignant meningoma and 88.0% (22/25) in encephalic glioma. They were significantly higher than 5.0% (1/20) in normal encephalic tissues (P < 0.01). Mass values of malignant meningoma and encephalic glioma were higher than that of normal encephalic tissues (P < 0.01). The expression of CD44 (intron 9) was higher in malignant meningoma and encephalic glioma than in normal encephalic tissues (P < 0.01). Detection of CD44 (intron 9) and CD44v6 might be helpful to the diagnosis of malignant cerebroma.Zhonghua wai ke za zhi [Chinese journal of surgery] 02/2002; 40(2):94-6.
Top Journals
Institutions
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2013
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ShenJing Hospital of China Medical University
Shenyang, Liaoning, China
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2012
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Liaoning Medical University
Liaonan, Jiangxi Sheng, China
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2010–2011
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China Medical University (PRC)
- Department of Pediatric Surgery
Shenyang, Liaoning, China
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