The Experts below are selected from a list of 7032 Experts worldwide ranked by ideXlab platform
Eberhard Schmiedeke - One of the best experts on this subject based on the ideXlab platform.
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sexual function in adults with Anorectal Malformation psychosocial adaptation german network for congenital uro rectal Malformations cure net
Pediatric Surgery International, 2012Co-Authors: Dominik Schmidt, Eberhard Schmiedeke, Sibylle Winter, Ekkehart Jenetzky, Nadine Zwink, Stefanie MaerzheuserAbstract:Purpose The aim of the German Network for Congenital Uro-REctal Malformations (CURE-Net) is to collect data of affected patients with Anorectal Malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine sexual function and to explore psychosocial adaptation in adults with ARM.
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postoperative complications in adults with Anorectal Malformation a need for transition german network for congenital uro rectal Malformations cure net
Pediatric Surgery International, 2012Co-Authors: Dominik Schmidt, Eberhard Schmiedeke, Ekkehart Jenetzky, Nadine Zwink, Stefanie MaerzheuserAbstract:Purpose The aim of the German Network for Congenital Uro-REctal Malformations (CURE-Net) is to collect data of affected patients with Anorectal Malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine the transition to adulthood in adults with ARM and to explore condition-related needs and skills required.
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de novo duplication of 18p11 21 18q12 1 in a female with Anorectal Malformation
American Journal of Medical Genetics Part A, 2011Co-Authors: Charlotte Schramm, Eberhard Schmiedeke, Markus Draaken, Enrika Bartels, Thomas M Boemers, Sabine Grasshoffderr, Stefanie Marzheuser, Stuart Hosie, Stefan Hollandcunz, Friederike BaudischAbstract:De Novo Duplication of 18p11.21–18q12.1 in a Female With Anorectal Malformation Charlotte Schramm, Markus Draaken, Enrika Bartels, Thomas M. Boemers, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Stefanie M€arzheuser, Stuart Hosie, Stefan Holland-Cunz, Friederike Baudisch, Lutz Priebe, Per Hoffmann, Alexander M. Zink, Hartmut Engels, Felix F. Brockschmidt, Stefan Aretz, Markus M. N€othen, Michael Ludwig, and Heiko Reutter* Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany Department of Pediatric Surgery and Pediatric Urology, Children’s Hospital, Cologne, Germany Department of Pediatric Surgery and Urology, Center for Child and Adolescent Health, Hospital Bremen-Mitte, Bremen, Germany Department of Pediatric Surgery, University Hospital W€urzburg, W€urzburg, Germany Department of Pediatric Surgery, Campus Virchow Clinic, Charit e University Hospital Berlin, Berlin, Germany Department of Pediatric Surgery, Klinikum Schwabing, Technische Universit€at M€unchen, M€unchen, Germany Department of Pediatric Surgery, University of Heidelberg, Heidelberg, Germany Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany Department of Neonatology, Children’s Hospital, University of Bonn, Bonn, Germany
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multidisciplinary behavioural treatment of fecal incontinence and constipation after correction of Anorectal Malformation
World Journal of Pediatrics, 2008Co-Authors: Eberhard Schmiedeke, Monika Busch, Elektra Stamatopoulos, Christian LorenzAbstract:Background Fecal incontinence and constipation are major problems after correction of Anorectal Malformation (ARM), caused not only by the somatic defects but also by a psychosomatic dysfunction of defecation. To better release patients from this dysfunction we offered a multidisciplinary, psycho-and physiotherapeutic therapy according to an approach developed in Nijmegen (Netherlands). We herein summarize the preliminary results to evaluate whether the approach can be adopted with similar success.
Stefanie Maerzheuser - One of the best experts on this subject based on the ideXlab platform.
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sexual function in adults with Anorectal Malformation psychosocial adaptation german network for congenital uro rectal Malformations cure net
Pediatric Surgery International, 2012Co-Authors: Dominik Schmidt, Eberhard Schmiedeke, Sibylle Winter, Ekkehart Jenetzky, Nadine Zwink, Stefanie MaerzheuserAbstract:Purpose The aim of the German Network for Congenital Uro-REctal Malformations (CURE-Net) is to collect data of affected patients with Anorectal Malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine sexual function and to explore psychosocial adaptation in adults with ARM.
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postoperative complications in adults with Anorectal Malformation a need for transition german network for congenital uro rectal Malformations cure net
Pediatric Surgery International, 2012Co-Authors: Dominik Schmidt, Eberhard Schmiedeke, Ekkehart Jenetzky, Nadine Zwink, Stefanie MaerzheuserAbstract:Purpose The aim of the German Network for Congenital Uro-REctal Malformations (CURE-Net) is to collect data of affected patients with Anorectal Malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine the transition to adulthood in adults with ARM and to explore condition-related needs and skills required.
Atsuyuki Yamataka - One of the best experts on this subject based on the ideXlab platform.
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fact or myth the long shared common wall between the fistula and the urethra in male Anorectal Malformation with urethral bulbar fistula
Pediatric Surgery International, 2019Co-Authors: Hiroyuki Koga, Geoffrey J Lane, Takanori Ochi, Go Miyano, Stephanie Chen, Hiroshi Murakami, Philip K Frykman, Atsuyuki YamatakaAbstract:Aim It has long been considered surgical dogma that the length of the shared common wall (CW) between a fistula and the urethra in males with Anorectal Malformation (ARM) and rectourethral bulbar fistula (RUBF) is considerably longer than in males with ARM and rectourethral prostatic fistula (RUPF). This belief has led surgeons who perform laparoscopic-assisted anorectoplasty (LAARP) for RUPF to avoid LAARP for RUBF for risk of potential injury to the urethra or incomplete removal of the fistula. In this study, we compared CW between RUBF and RUPF using distal colostography (DCG) and direct intraoperative measurements.
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fecal and urinary continence after scope assisted anorectovaginoplasty for female Anorectal Malformation
Pediatric Surgery International, 2012Co-Authors: Atsuyuki Yamataka, Shumpei Goto, Yoshifumi Kato, Hiroyuki Koga, Geoffrey J Lane, Tadaharu OkazakiAbstract:Aim We assessed continence after scope-assisted anorectovaginoplasty (SARVP) for female Anorectal Malformation (FARM).
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a comparison of clinical protocols for assessing postoperative fecal continence in Anorectal Malformation
Pediatric Surgery International, 2012Co-Authors: Takanori Ochi, Tadaharu Okazaki, Geoffrey J Lane, Go Miyano, Atsuyuki YamatakaAbstract:Background We compared four protocols for assessing fecal continence (FC) in Anorectal Malformation (ARM).
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A comparison of clinical protocols for assessing postoperative fecal continence in Anorectal Malformation
Pediatric Surgery International, 2012Co-Authors: Takanori Ochi, Tadaharu Okazaki, Geoffrey J Lane, Go Miyano, Atsuyuki YamatakaAbstract:Background We compared four protocols for assessing fecal continence (FC) in Anorectal Malformation (ARM). Methods Of 111 ARM cases we treated by anoplasty from 1995 to 2007, 59 have been followed up for more than 4 years [male high ( n = 23), male low ( n = 12), female high ( n = 7), and female low ( n = 17)] and 27 for more than 7 years [male high ( n = 11), male low ( n = 5), female high ( n = 5), and female low ( n = 6)]. FC was assessed in these 86 cases using each of the four protocols; the Kelly score (0–6 points), the Japanese Study Group of Anorectal Anomalies (JSGA) score (0–8 points), the Holschneider score (0–14 points), and our original score (0–10 points). Results were re-classified into four outcome levels (good, fair, poor, very poor) for direct comparison. Results Outcome was different by two levels (i.e., good vs. very poor) in 7 (8.1%) assessments and different by one category (i.e., fair vs. poor) in ten assessments (11.6%). Outcome was different most often in male high ARM cases and JSGA scores were most divergent. Conclusions Fecal continence in male high ARM appears to be assessed inconsistently and a review of protocols may be of value to standardize clinical assessment and enhance reliability.
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neuronal immaturity in normoganglionic colon from cases of hirschsprung disease Anorectal Malformation and idiopathic constipation
Journal of Pediatric Surgery, 2009Co-Authors: Katsumi Miyahara, Yoshifumi Kato, Geoffrey J Lane, Tatsunori Seki, Atsushi Arakawa, Atsuyuki YamatakaAbstract:Abstract Aim Immaturity of neurons in normoganglionic colon in Hirschsprung disease (HD), Anorectal Malformation (AM), idiopathic constipation (IC), and normal controls (C) was assessed using polysialyated neural cell adhesion molecule. Methods Polysialyated neural cell adhesion molecule immunoreactivity in 3 sections of normoganglionic colon from HD (n = 48), AM (n = 25), IC (n = 36), and C (n = 18) were scored semiquantitatively according to age; 1 day to 11 months (G1), 1 to 4 years (G2), and 5 years and older (G3). Results Neurons in all specimens appeared mature irrespective of age on hematoxylin-eosin stain. Polysialyated neural cell adhesion molecule was positive (immaturity) in all specimens during G1 (1.34 in HD, 1.60 in AM, 0.89 in IC, and 1.59 in C) and decreased significantly with age in C (0.34* for G2, 0.25* for G3; * P # for G3; # P § for G3; § P P = not significant), which after 4 years was significantly higher than C ( P Conclusion Postoperative colonic dysmotility may be because of persistence of immature neurons in HD and impaired maturation of neurons in AM and IC.
Prem Puri - One of the best experts on this subject based on the ideXlab platform.
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concurrent hirschsprung s disease and Anorectal Malformation a systematic review
Pediatric Surgery International, 2020Co-Authors: Hiroki Nakamura, Prem PuriAbstract:Hirschsprung’s disease (HSCR) and Anorectal Malformation (ARM) are often associated with other congenital Malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association. A systematic literature search for relevant articles was performed in four databases using a combination of the following terms “association of Hirschsprung’s disease and Anorectal Malformation”, “aganglionosis and Anorectal Malformation” and “congenital megacolon and Anorectal Malformation” for studies published between 1952 and 2019. Reference lists were screened for additional cases. Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister–Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case. Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.
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Concurrent Hirschsprung’s disease and Anorectal Malformation: a systematic review
Pediatric Surgery International, 2019Co-Authors: Hiroki Nakamura, Prem PuriAbstract:Hirschsprung’s disease (HSCR) and Anorectal Malformation (ARM) are often associated with other congenital Malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association. A systematic literature search for relevant articles was performed in four databases using a combination of the following terms “association of Hirschsprung’s disease and Anorectal Malformation”, “aganglionosis and Anorectal Malformation” and “congenital megacolon and Anorectal Malformation” for studies published between 1952 and 2019. Reference lists were screened for additional cases. Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister–Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case. Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.
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association of hirschsprung s disease and Anorectal Malformation a systematic review
Pediatric Surgery International, 2013Co-Authors: Alejandro Daniel Hofmann, Prem PuriAbstract:Background The association of Hirschsprung’s disease (HD) and Anorectal Malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM has been reported in 2.3 to 3.4 % of ARM cases. Most of the reported cases in the literature have been single case reports. The aim of this systematic review was to determine the incidence of HD associated with ARM and its relationship to other syndromes.
Weilin Wang - One of the best experts on this subject based on the ideXlab platform.
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FOXD3/FOXD4 is required for the development of hindgut in the rat model of Anorectal Malformation:
Experimental Biology and Medicine, 2018Co-Authors: Luo-jia Wang, Weilin Wang, Shu-cheng ZhangAbstract:Congenital Anorectal Malformation is the most common digestive tract Malformation in newborns. It has been reported that FOXD3/FOXD4, a forkhead transcription factor, regulates the generation, migration, and differentiation of neural crest cells. However, whether FOXD3/FOXD4 takes part in Anorectal Malformation remains unclear. In the present study, we used ethylene thiourea to induce the animal models of Anorectal Malformation in rat embryos and to interrogate the role of FOXD3/FOXD4 in Anorectal Malformation pathogenesis. Hindgut samples of the animal models were collected at E15, E17, E19, and E21 days of age. The expression of FOXD3/FOXD4 was detected by immunohistochemistry, western blot, and quantitative real-time fluorescence PCR. By immunohistochemical staining, FOXD3/FOXD4 was observed in epithelial cells of the rectum and the anus both in normal and rat embryos with Anorectal Malformation. Expression level analysis by western blot indicated that FOXD3/FOXD4 expression increased in ethylene thiou...
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Anorectal Malformation associated with a mutation in the p63 gene in a family with split hand foot Malformation
International Journal of Colorectal Disease, 2013Co-Authors: Pengjun Su, Weilin Wang, Yuhang Yuan, Ying Huang, Zhibo ZhangAbstract: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.
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quantitative analysis of sacral parasympathetic nucleus innervating the rectum in rats with Anorectal Malformation
Journal of Pediatric Surgery, 2007Co-Authors: Keren Zhang, Shu-cheng Zhang, Zhengwei Yuan, Weilin WangAbstract:Abstract Background/Purpose The purpose of this experiment was to identify the neurons in the lumbosacral spinal cord involved in colon-rectal function and to compare normal and Anorectal Malformation of fetalrats. Methods The authors quantified the sacral parasympathetic nucleus (SPN) innervation of the rectum by Fluorogold (FG) (Fluorochrome, Englewood, CO) retrograde tracing experiment in fetal rats with normal and Anorectal Malformation. Anorectal Malformation was induced in rat fetuses by ethylenethiourea (ETU). The number of FG-labeled SPNs was scored and compared between male fetuses with or without Malformation in the ETU-fed group and control groups. Results The number of FG-labeled SPNs in the fetuses without a defect, with ETU injected but without any defects of the anorectum or neural tube, with low-type deformity, and with high-type deformity were (mean ± SEM) 47.3 ± 2.9, 45.6 ± 3.2, 24.2 ± 3.8, and 8.5 ± 2.5, respectively. Fluorogold-labeled SPNs inthe fetuses with high-type deformity were significantly fewer than those in fetuses without defects ( P P Conclusions These findings suggest that defective SPN innervation to the rectum is a primary anomaly that coexists with the alimentary tract anomaly in Anorectal Malformation during fetal development. The intrinsic neural deficiency is an important factor likely to contribute to poor postoperative Anorectal function despite surgical correction of the Malformation.
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neural electrophysiological studies on the external anal sphincter in children with Anorectal Malformation
Journal of Pediatric Surgery, 2000Co-Authors: Zhengwei Yuan, Zhibo Zhang, Shijun Ji, Zheng Li, Weilin WangAbstract:Abstract Background/Purpose: Abnormality of innervation of external anal sphincter is one of the most important factors affecting postoperative Anorectal function. The abnormalities of lumbosacral nerves have been reported in many radiological and histopathologic studies. There are few reports on the neurophysiological changes in children with anoractal Malformation. The aim of this study was to examine the functional changes of nerves to the external anal sphincter in Anorectal Malformation. Methods: Forty-five patients with Anorectal Malformation underwent studies of latencies of pudendo-anal reflex, spino-anal response, and evoked potential of cauda equine simultaneously. The conduction time of afferent nerve, efferent nerve, and sacral spinal center of pudendo-anal reflex arc were analyzed quantitatively. Results: The latencies of pudendo-anal reflex, spino-anal response, and conduction time of sacral spinal center significantly are prolonged in patients with Anorectal Malformation ( P Conclusions: The abnormality of nerves to external anal sphincters is one of the important causes for clinical outcome. The neural lesions vary in each type of anal and lumbosacral deformity. J Pediatr Surg 35:1052-1057. Copyright © 2000 by W.B. Saunders Company.
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quality of life for children with fecal incontinence after surgically corrected Anorectal Malformation
Journal of Pediatric Surgery, 2000Co-Authors: Zhengwei Yuan, Weilin Wang, Yaru Zhao, Huizhen Wang, Wei WangAbstract:Abstract Purpose: The aim of this study was to investigate influences of fecal incontinence on children's quality of life after surgically corrected Anorectal Malformation. Methods: Seventy-one children with Anorectal Malformation underwent follow-up for 8 to 16 years postoperatively. They were divided into good, fair, and poor groups by assessment of anal function. The quality of life was investigated by self-structured disease impact questionnaires and Achenbach's Child Behavior Check List (CBCL). A quality-of-life scoring criteria was established to assess quality of life of the 71 children with operated Anorectal Malformation and controls. Results: Owing to fecal incontinence, 12 (16.9%) children reported that there were problems in peer relationships; school absences happened in 13 (18.3%) children; 17 (23.9%) children had to restrict themselves to certain food. Based on CBCL, 13 (18.3%) children had behavior problems. The behavior problems in children with poor fecal continence (66.7%) were significantly higher than those of children with good fecal continence (8.6%). According to the quality-of-life scoring criteria, the scores of children with operated Anorectal Malformation (9.4 ± 3.7) were significantly lower than those of the controls (11.2 ± 0.9). The scores of children with poor fecal continence (4.8 ± 1.4) were significantly lower than those of children with good fecal continence (10.9 ± 1.2). Conclusions: The children with poor fecal continence have poor quality of life caused by fecal dysfunction. Attention should be paid to the rehabilitation of fecal continence after surgery, such as bowel training and biofeedback therapy. The somatic and psychological care and long-term follow-up are necessary to improve the quality of life. J Pediatr Surg 35:462-464. Copyright © 2000 by W.B. Saunders Company.
