The Experts below are selected from a list of 78 Experts worldwide ranked by ideXlab platform

Wei Mingfa - One of the best experts on this subject based on the ideXlab platform.

S Prabhakaran - One of the best experts on this subject based on the ideXlab platform.

  • absite corner Hirschsprungs Disease
    2009
    Co-Authors: S Prabhakaran
    Abstract:

    familial (50%) and sporadic (15-20%) Hirschsprungs Disease, while homozygosity for EDNRB or EDN3 mutations accounted for the rare Hirschsprung- Waardenburg syndrome. Most cases of HD are sporadic but long-segment and total colonic aganglionosis, especially in female children are strongly associated with familial inheritance. The familial variant has been associated with RET mutations and thus has a linkage to MEN types IIA and IIB and familial medullary thyroid carcinoma. Associated cardiac defects are seen in 2 �5% of HD cases. Of interest, trisomy 21 is seen in approximately 5 �15% of HD cases.

Xian Hua - One of the best experts on this subject based on the ideXlab platform.

  • the expression of ret and edn 3 in Hirschsprungs Disease and their clinical significance
    Chinese journal of Clinical Medicine, 2006
    Co-Authors: Xian Hua
    Abstract:

    Objective:To study the distribution of RET proto-oncogene(RET)and endothelin-3(EDN-3)protein in Hirschs- prung's diease(HD)and its significance.Compare the dyeing of result and characteristics of distributing.Methods:Clinicopath- ologic data were reviewed and immunohistochemical staining were performed for RET and EDN-3 using paraffin-embedded tis- sues from 33 cases of HD patients and 10 normal colon.Results:The nerve stanza cell and nerve fiber showed immunoactivities for RET in colon,decreased in narrow segment and has statistical significance(P＜0.01).EDN-3 was expressed in blood ves- sel of colon,decreased in short-type HD and had statistical significance(P＜0.05).Conclusion:The expression of RET and EDN-3 are correlated with the development and type of HD,both of them can be used for clinical diagnosis and treatment,and for new trend.

Prem Puri - One of the best experts on this subject based on the ideXlab platform.

  • reduction of hydrogen sulfide synthesis enzymes cystathionine β synthase and cystathionine γ lyase in the colon of patients with Hirschsprungs Disease
    Journal of Pediatric Surgery, 2017
    Co-Authors: Christian Tomuschat, Anne Marie Odonnell, David Coyle, Prem Puri
    Abstract:

    Abstract Purpose Hirschsprung associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in Hirschsprung Disease (HSCR). The pathogenesis of HAEC is poorly understood. In recent years, there is increasing evidence that a compromised intestinal barrier function plays a major role in the pathogenesis of HAEC. Hydrogen sulfide, synthesized from L-cysteine by two key enzymes, cystathionine-β-synthase (CBS) and cystathionine-γ-lysase (CSE) is reported to play a key role in regulating gastrointestinal motility and promoting resolution of inflammation. We designed this study to test the hypothesis that CBS and CSE expression is altered in the colon of patients with HSCR. Methods We investigated CBS and CSE protein expression in both the aganglionic and ganglionic regions of HSCR patients (n=10) versus healthy control colon (n=10). Protein distribution was assessed by using immunofluorescence and confocal microscopy. Gene and protein expression was quantified using quantitative real-time polymerase chain reaction (qPCR), Western blot analysis, and densitometry. Main results qPCR and Western blot analysis revealed that CBS and CSE are expressed in the normal human colon. CBS and CSE expression was significantly decreased (p Conclusion We demonstrate for the first time the expression and distribution of CBS/CSE in patients with HSCR. The observed decreased expression of CBS and CSE may affect mucosal integrity and colonic contractility and thus render HSCR patients more susceptible to develop HAEC.

Mushtaq Ahmed - One of the best experts on this subject based on the ideXlab platform.

  • out come of modified duhamel procedure for Hirschsprungs Disease in sheikh zayed hospital rahim yar khan
    Journal of Fatima Jinnah Medical University, 2014
    Co-Authors: Tahir Mehmood, Syed Asif Shah, Zahoor Ahmed, Saad M Zulfiqar, Mazhar Rafi, Mushtaq Ahmed
    Abstract:

    Hirschsprung’s Disease (HD) is a congenital condition, which is characterized by the absence of Ganglion cells in submucosal (Meissner’s) plexus and the intermuscular (Auerbach’s) plexus. Aim: To determine the outcome of modified Duhamel procedure in sheikh zayed hospital Rahim yar khan Design: This is case series study. Settings: Department of Pediatric Surgery Sheikh Zayed Medical College Rahim Yar Khan Period: Seventeen cases were operated from 20th December 2012 to 20th may 2014. Material and Method: Seventeen (17) cases from both sexes were operated for Hirschsprung's Disease. All patients were diagnosed cases of rectosigmoid aganglionosis and followed up for a period of one year according to comprehensive Performa. Four parameters like normal stool evacuation, abdominal distention, soiling and stool incontinence were followed then the results were compared with other national and international studies. Results: fever 23.5% (n=04), wound infection 23.5% (n=04), vomiting 11.76% (n=02), abdominal distension 5.8% (n=01), and bleeding per5.8% (n=01), were the immediate post operative complications. Abdominal distention was observed occasionally in six patients (35.2%). Soiling was seen in five patients (29.41%). Out of Seventeen, stool incontinence was seen in only three patients. Conclusion: Modified Duhamel Procedure with the help of linear cutter stapler device is quite safe & less time consuming. Infact (Modified Duhamel) is the procedure of choice for Hirschsprung's Disease these days.