143 results on '"Schmiedeke E"'
Search Results
2. Non-financial conflicts of interest: contribution to a surgical dilemma by the European Reference Networks for Rare Diseases
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Schmiedeke, E., Schaefer, S., Aminoff, D., Schwarzer, N., and Jenetzky, E.
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- 2019
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3. Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study
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Morandi, A., Fanjul, M., Iacobelli, B.D., Samuk, I., Aminoff, D., Midrio, P., Blaauw, I. de, Schmiedeke, E., Prato, A., Feitz, W.F.J., Steeg, H.J.J. van der, Minoli, D.G., Sloots, C. E. J., Fascetti-Leon, F., Makedonsky, I., Garcia, A., Stenström, P., Morandi, A., Fanjul, M., Iacobelli, B.D., Samuk, I., Aminoff, D., Midrio, P., Blaauw, I. de, Schmiedeke, E., Prato, A., Feitz, W.F.J., Steeg, H.J.J. van der, Minoli, D.G., Sloots, C. E. J., Fascetti-Leon, F., Makedonsky, I., Garcia, A., and Stenström, P.
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Item does not contain fulltext, INTRODUCTION: To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement. MATERIALS AND METHODS: We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed. RESULTS: Twenty-nine patients were reported by 12 centers. Twenty-six patients with EO (90%) had ARM with a rectourinary fistula. Median age at first EO was 2 years (range: 15 days-27 years). Twenty patients (69%) experienced multiple EO, and 60% of recurrences were ipsilateral. Associated urological anomalies included vesicoureteral reflux (48%), urethral anomalies (41%), neurogenic bladder (41%), and ectopic vas (10%). A positive urine culture during EO was present in 69%. EO was treated with antibiotics (90%), limiting surgical exploration to 14%. Prevention of recurrences included surgery (bulking agents 15%, vasectomy 15%, and orchiectomy 5%) and antibiotic prophylaxis (20%). CONCLUSION: Urologists may encounter patients with EO in ARM patients, frequently with positive urine culture. An appropriate urologic work-up for most ARM patients is necessary to identify and treat underlying risk factors. A practical scheme for the work-up is suggested for a close collaboration between pediatric surgeons and urologists.
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- 2022
4. Towards the perfect ARM center: the European Union’s criteria for centers of expertise and their implementation in the member states. A report from the ARM-Net
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Schmiedeke, E., de Blaauw, I., Lacher, M., Grasshoff-Derr, S., Garcia–Vazquez, A., Giuliani, S., Midrio, P., Gamba, P., Iacobelli, BD., Bagolan, P., Brisighelli, G., Leva, E., Cretolle, C., Sarnacki, S., Broens, P., Sloots, C., van Rooij, I., Schwarzer, N., Aminoff, D., Haanen, M., and Jenetzky, E.
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- 2015
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5. European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations
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van der Steeg, H. J. J., Schmiedeke, E., Bagolan, P., Broens, P., Demirogullari, B., Garcia–Vazquez, A., Grasshoff-Derr, S., Lacher, M., Leva, E., Makedonsky, I., Sloots, C. E. J., Schwarzer, N., Aminoff, D., Schipper, M., Jenetzky, E., van Rooij, I. A. L. M., Giuliani, S., Crétolle, C., Holland Cunz, S., Midrio, P., and de Blaauw, I.
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- 2015
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6. Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study
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van der Steeg HJJ, van Rooij IALM, Iacobelli, Bd, Sloots, Cej, Morandi, A., Broens, Pma, Makedonsky, I., Leon, Ff, Schmiedeke, E., Vázquez, Ag, Miserez, M., Lisi, G., Paola Midrio, Amerstorfer, Ee, Fanjul, M., Ludwiczek, J., Stenström, P., van der Steeg AFW, Blaauw, I., On-Behalf-Of-The-Arm-Net-Consortiu, M., and Pediatric Surgery
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Adult ,ARM-Net ,Anal Canal ,Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9] ,Bowel function score ,Cohort Studies ,Type of study ,All institutes and research themes of the Radboud University Medical Center ,Risk Factors ,Rectovestibular fistula ,Humans ,Rectal Fistula ,Preschool age ,Child ,Retrospective Studies ,Rectum ,General Medicine ,Anorectal malformation ,Anorectal Malformations ,Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] ,Treatment Outcome ,Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10] ,Child, Preschool ,Observational cohort-study ,Pediatrics, Perinatology and Child Health ,Surgery ,Early childhood ,Constipation ,Follow-Up Studies - Abstract
BACKGROUND: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types, in adult patients. Therefore, counseling parents concerning the bowel function at early age is challenging. Aim of this study was to evaluate bowel function of RVF-patients at preschool/early childhood age and determine risk factors for poor functional outcome. METHODS: A multi-center cohort study was performed. Patient characteristics, associated anomalies, sacral ratio, surgical procedures, post-reconstructive complications, one-year constipation, and Bowel Function Score (BFS) at 4-7 years of follow-up were registered. Groups with below normal (BFS
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- 2022
7. Phimose
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BARTSCH, H., primary, SCHMIEDEKE, E., additional, and TRÖBS, R.-B., additional
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- 2015
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8. What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members’ opinion
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Amerstorfer, Ee, Grano, C, Verhaak, C, Garcia-Vasquez, A, Miserez, M, Radleff-Schlimme, A, Schwarzer, N, Haanen, M, de Blaauw, I, Jenetzky, E, van der Steeg, A, van Rooij, Ialm, Aminoff, D, Bagolan, P, Iacobelli, B, Broens, P, Deluggi, S, Ludwiczek, J, Fanjul, M, Fascetti-Leon, F, Gamba, P, Gine, C, Giuliani, S, Goseman, J, Lacher, M, Grasshoff-Derr, S, Holland-Cunz, S, Leva, E, Morandi, A, Lisi, G, Madadi-Sanjan, O, Makedonsky, I, Marcelis, C, Midrio, P, Ozen, O, Piniprato, A, Reck-Burneo, C, Reutter, H, Rohleder, S, Samuk, I, Schmiedeke, E, Sloots, P, van der Steeg, H, Stenstrom, P, Till, H, Volk, P, and Wester, T
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Male ,Human sexuality ,Anorectal malformation ,sexuality ,sexual functioning ,adolescence ,training ,ARM-Net ,Pediatrics ,DISEASE ,0302 clinical medicine ,QUALITY-OF-LIFE ,Surveys and Questionnaires ,Pediatric surgery ,Child ,Referral and Consultation ,General Medicine ,Middle Aged ,Anorectal Malformations ,3. Good health ,Adolescence ,Europe ,Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10] ,030211 gastroenterology & hepatology ,Original Article ,Female ,HEALTH ,Life Sciences & Biomedicine ,Sexuality ,Sexual functioning ,medicine.medical_specialty ,Attitude of Health Personnel ,Multidisciplinary team ,03 medical and health sciences ,All institutes and research themes of the Radboud University Medical Center ,030225 pediatrics ,medicine ,Training ,Humans ,Surgeons ,Science & Technology ,business.industry ,Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6] ,Pediatric Surgeon ,ADULTS ,CARE ,Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] ,Family medicine ,Pediatrics, Perinatology and Child Health ,Settore MED/20 ,Surgery ,business - Abstract
PURPOSE: Since pediatric surgeons aim to follow their patients with anorectal malformations (ARM) into adulthood the aim of this study was to investigate how pediatric surgeons deal with sexual issues related to ARM. METHODS: In 2018, a questionnaire was developed by the working group "Follow-up and sexuality" of the ARM-Net consortium and sent to all consortium-linked pediatric surgeons from 31 European pediatric surgical centers. Obtained data were statistically analyzed. RESULTS: Twenty-eight of 37 pediatric surgeons (18 males/10 females) answered the questionnaire. The majority of pediatric surgeons (82%) think they should talk about sexual issues with their patient. More than 50% of pediatric surgeons do not feel at all or only moderately confident discussing the topic of sexuality. Most pediatric surgeons require more support (96%) and wish to be trained in sexuality and sexual issues (78%) to feel confident towards their ARM-patients/parents. For optimal care, sexual issues with ARM-patients should be managed by a multidisciplinary team. CONCLUSIONS: Pediatric surgeons feel that sexuality is an important issue for their ARM-patients, which they are primarily responsible of but should be managed in concert with a multidisciplinary team. A training in sexuality is wished to feel more confident about this specific issue. ispartof: PEDIATRIC SURGERY INTERNATIONAL vol:35 issue:9 pages:935-943 ispartof: location:Germany status: published
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- 2019
9. The impact of perioperative care on complications and short term outcome in ARM type rectovestibular fistula: An ARM-Net consortium study
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Volk, P., Samuk, I, Midrio, P., Zwink, N., Miserez, M., Marcelis, C., Till, H., Lacher, M., Jenetzky, E., Burneo, C. Reck, Schwarzer, N., Lisi, G., Amerstorfer, E., Stenstrom, P., Fanjul, M., Ludwiczek, J., Rohleder, S., Reutter, H., Giuliani, S., Ozen, O., Haanen, M., Prato, A. Pini, Grasshoff-Derr, S., Grano, C., Gine, C., Gamba, P., Bagolan, P., Aminoff, D., de Blaauw, I, van Der Steeg, A. F. W., Makedonsky, I, van Der Steeg, H. J. J., Garcia Vazquez, A., van Rooij, I. A. L. M., Iacobelli, B. D., Sloots, C. E. J., Leva, E., Broens, P., Leon, F. Fascetti, Schmiedeke, E., Percin, FERDA EMRİYE, Amsterdam Reproduction & Development (AR&D), Other Research, and Pediatric Surgery
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medicine.medical_specialty ,Constipation ,Multivariate analysis ,Complications ,ANORECTAL-MALFORMATIONS ,Psychological intervention ,CHILDREN ,ANTERIOR SAGITTAL ANORECTOPLASTY ,Pediatrics ,Perioperative Care ,03 medical and health sciences ,Anorectal malformation (ARM) ,Antibiotic prophylaxis ,Mechanical bowel preparation ,Perioperative care ,Postoperative feeding regimen ,Surgery ,Pediatrics, Perinatology and Child Health ,0302 clinical medicine ,All institutes and research themes of the Radboud University Medical Center ,Postoperative Complications ,030225 pediatrics ,medicine ,SURGICAL SITE INFECTION ,Humans ,Rectal Fistula ,Retrospective Studies ,MECHANICAL BOWEL PREPARATION ,business.industry ,Incidence (epidemiology) ,PARENTERAL-NUTRITION ,Retrospective cohort study ,General Medicine ,Evidence-based medicine ,Perinatology and Child Health ,Antibiotic Prophylaxis ,VESTIBULAR FISTULA ,PREVENTION ,Anorectal Malformations ,Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] ,Parenteral nutrition ,Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10] ,ELECTIVE COLORECTAL SURGERY ,030220 oncology & carcinogenesis ,PEDIATRIC SURGEONS ,medicine.symptom ,business - Abstract
Background: The impact of perioperative care interventions on postreconstructive complications and short-term colorectal outcome in patients with anorectal malformation (ARM) type rectovestibular fistula is unknown.Methods: An ARM-Net consortium multicenter retrospective cohort study was performed including 165 patients with a rectovestibular fistula. Patient characteristics, perioperative care interventions, timing of reconstruction, postreconstructive complications and the colorectal outcome at one year of follow-up were registered.Results: Overall complications were seen in 26.8% of the patients, of which 41% were regarded major. Differences in presence of enterostomy, timing of reconstruction, mechanical bowel preparation, antibiotic prophylaxis and postoperative feeding regimen had no impact on the occurrence of overall complications. However, mechanical bowel preparation, antibiotic prophylaxis >= 48 h and postoperative nil by mouth showed a significant reduction in major complications. The lowest rate of major complications was found in the group having these three interventions combined (5.9%).Multivariate analyses did not show independent significant results of any of the perioperative care interventions owing to center-specific combinations. At one year follow-up, half of the patients experienced constipation and this was significantly higher among those with preoperative mechanical bowel preparation.Conclusions: Differences in perioperative care interventions do not seem to impact the incidence of overall complications in a large cohort of European rectovestibular fistula-patients. Mechanical bowel preparation, antibiotic prophylaxis >= 48 h, and postoperative nil by mouth showed the least major complications. Independency could not be established owing to center-specific combinations of interventions.Type of study: Treatment study. (C) 2019 Elsevier Inc. All rights reserved.
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- 2019
10. Practice of dilatation after surgical correction in anorectal malformations
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Jenetzky, Ekkehart, Reckin, S., Schmiedeke, E., Schmidt, D., Schwarzer, N., Grasshoff-Derr, S., Zwink, N., Bartels, E., Rißmann, A., Leonhardt, J., Weih, S., Obermayr, F., Rädecke, J., Palta, M., Kosch, F., Götz, G., Hofbauer, A., Schäfer, M., Reutter, H., Holland-Cunz, S., and Märzheuser, S.
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- 2012
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11. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
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van de Putte, R. (Romy), Dworschak, G.C. (Gabriel C), Brosens, E. (Erwin), Reutter, H. (Heiko), Marcelis, C.L.M. (Carlo L. M.), Acuna-Hidalgo, R. (Rocio), Kurtas, N.E. (Nehir E.), Steehouwer, M. (Marloes), Dunwoodie, S.L. (Sally L.), Schmiedeke, E. (Eberhard), Märzheuser, S. (Stefanie), Schwarzer, S. (Stefan), Brooks, A.S. (Alice), Klein, A. (Annelies) de, Sloots, C.E.J. (Pim), Tibboel, D. (Dick), Brisighelli, G., Morandi, A. (Anna), Bedeschi, M.F. (Maria F.), Bates, M.D. (Michael D.), Levitt, M.A. (Marc), La Peña, A. (Amparo) de, Blaauw, I. (Ivo) de, Roeleveld, N. (Nel), Brunner, H.G. (Han), Rooij, I.A.L.M. (Iris), Hoischen, A. (Alex), van de Putte, R. (Romy), Dworschak, G.C. (Gabriel C), Brosens, E. (Erwin), Reutter, H. (Heiko), Marcelis, C.L.M. (Carlo L. M.), Acuna-Hidalgo, R. (Rocio), Kurtas, N.E. (Nehir E.), Steehouwer, M. (Marloes), Dunwoodie, S.L. (Sally L.), Schmiedeke, E. (Eberhard), Märzheuser, S. (Stefanie), Schwarzer, S. (Stefan), Brooks, A.S. (Alice), Klein, A. (Annelies) de, Sloots, C.E.J. (Pim), Tibboel, D. (Dick), Brisighelli, G., Morandi, A. (Anna), Bedeschi, M.F. (Maria F.), Bates, M.D. (Michael D.), Levitt, M.A. (Marc), La Peña, A. (Amparo) de, Blaauw, I. (Ivo) de, Roeleveld, N. (Nel), Brunner, H.G. (Han), Rooij, I.A.L.M. (Iris), and Hoischen, A. (Alex)
- Abstract
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically. The aims of this study were to identify patients with monogenic disorders using a genetics-first approach, and to study whether variants in candidate genes are involved in the etiology of VACTERL or the individual features of VACTERL: Anorectal malformation (ARM) or esophageal atresia with or without trachea-esophageal fistula (EA/TEF). Methods: Using molecular inversion probes, a candidate gene panel of 56 genes was sequenced in three patient groups: VACTERL (n = 211), ARM (n = 204), and EA/TEF (n = 95). Loss-of-function (LoF) and additional likely pathogenic missense variants, were prioritized and validated using Sanger sequencing. Validated variants were tested for segregation and patients were clinically re-evaluated. Results: In 7 out of the 510 patients (1.4%), pathogenic or likely pathogenic variants were identified in SALL1, SALL4, and MID1, genes that are associated with Townes-Brocks, Duane-radial-ray, and Opitz-G/BBB syndrome. These syndromes always include ARM or EA/TEF, in combination with at least two other VACTERL features. We did not identify LoF variants in the remaining candidate genes. Conclusions: None of the other candidate genes were identified as novel unequivocal disease genes for VACTERL. However, a genetics-first approach allowed refinement of the clinical diagnosis in seven patients, in whom an alternative molecular-based diagnosis was found with important implications for the counseling of the families.
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- 2020
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12. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
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van de Putte, R, Dworschak, GC, Brosens, Erwin, Reutter, HM, Marcelis, CL, Acuna-Hidalgo, R, Kurtas, NE, Steehouwer, M, Dunwoodie, SL, Schmiedeke, E, Marzheuser, S, Schwarzer, N, Brooks, Alice, de Klein, Annelies, Sloots, C.E.J., Tibboel, Dick, Brisighelli, G, Morandi, A, Bedeschi, MF, Bates, MD, Levitt, MA, de la Pena, A, de Blaauw, I, Roeleveld, N, Brunner, HG, de Rooij, I, Hoischen, A, van de Putte, R, Dworschak, GC, Brosens, Erwin, Reutter, HM, Marcelis, CL, Acuna-Hidalgo, R, Kurtas, NE, Steehouwer, M, Dunwoodie, SL, Schmiedeke, E, Marzheuser, S, Schwarzer, N, Brooks, Alice, de Klein, Annelies, Sloots, C.E.J., Tibboel, Dick, Brisighelli, G, Morandi, A, Bedeschi, MF, Bates, MD, Levitt, MA, de la Pena, A, de Blaauw, I, Roeleveld, N, Brunner, HG, de Rooij, I, and Hoischen, A
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- 2020
13. The impact of perioperative care on complications and short term outcome in ARM type rectovestibular fistula: An ARM-Net consortium study
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van der Steeg, H.J.J., primary, van Rooij, I.A.L.M., additional, Iacobelli, B.D., additional, Sloots, C.E.J., additional, Leva, E., additional, Broens, P., additional, Fascetti Leon, F., additional, Makedonsky, I., additional, Schmiedeke, E., additional, García Vázquez, A., additional, Midrio, P., additional, Lisi, G., additional, Amerstorfer, E., additional, Miserez, M., additional, Fanjul, M., additional, Ludwiczek, J., additional, Stenström, P., additional, Giuliani, S., additional, van der Steeg, A.F.W., additional, and de Blaauw, I., additional
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- 2019
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14. More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation
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Bagci, S., Brosens, E., Tibboel, D., Klein, A., Ijsselstijn, H., Wijers, C.H.W., Roeleveld, N., Blaauw, I. de, Broens, P.M., Rooij, I.A.L.M. van, Holscher, A., Boemers, T.M., Pauly, M., Munsterer, O.J., Schmiedeke, E., Schafer, M., Ure, B.E., Lacher, M., Choinitzki, V., Schumacher, J., Zwink, N., Jenetzky, E., Katzer, D., Arand, J., Bartmann, P., Reutter, H.M., Bagci, S., Brosens, E., Tibboel, D., Klein, A., Ijsselstijn, H., Wijers, C.H.W., Roeleveld, N., Blaauw, I. de, Broens, P.M., Rooij, I.A.L.M. van, Holscher, A., Boemers, T.M., Pauly, M., Munsterer, O.J., Schmiedeke, E., Schafer, M., Ure, B.E., Lacher, M., Choinitzki, V., Schumacher, J., Zwink, N., Jenetzky, E., Katzer, D., Arand, J., Bartmann, P., and Reutter, H.M.
- Abstract
Contains fulltext : 170996.pdf (publisher's version ) (Closed access), The purpose of our study was to investigate the importance of amniotic fluid (AF) for fetal growth during late gestation using esophageal atresia (EA) patients as a model. In this retrospective cohort study, we compared the z-scores adapted for birth weights (BW z-scores) for each of 517 European newborns with congenital pre-gastric intestinal atresia, i.e., EA, to a European reference population. To account for the influence of the intestinal atresia on fetal growth per se, we compared adapted birth weights for each of 504 European newborns with post colonic intestinal atresia (anorectal malformation (ARM) with atresia of the anus) to the same European reference population. Analysis of the complete cohort showed (i) a significantly higher rate of small for gestational age newborns among EA compared to ARM newborns (p < 0.001) and (ii) significantly lower BW z-scores among EA compared to ARM newborns (p < 0.001). BW z-scores of EA newborns were significantly lower in term compared to preterm newborns with an inverse correlation with gestational age (GA) (Spearman correlation coefficient, r = -0.185, p < 0.001). CONCLUSIONS: Enteral uptake of AF seems to play a pivotal role in fetal growth during late gestation. WHAT IS KNOWN: * Peak velocity of fetal weight gain occurs at 33 weeks of gestation and continues until birth. During this period, fetal growth is mainly characterized by cellular hypertrophy. * Amniotic fluid (AF) comprises large amounts of hormones and growth regulators. What is New: * A significantly higher rate of small for gestational age and lower birth weights and z-scores are observed among newborn infants with congenital pre-gastric intestinal atresia. * These findings suggest that enteral uptake of AF is a major predictor for fetal growth during late gestation.
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- 2016
15. Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families
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Zwink, N., Choinitzki, V., Baudisch, F., Hoelscher, A., Boemers, T. M., Turial, S., Kurz, R., Heydweiller, A., Keppler, K., Mueller, A., Bagci, S., Pauly, M., Brokmeier, U., Leutner, A., Degenhardt, P., Schmiedeke, E., Maerzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Palta, M., Schaefer, M., Ure, B. M., Lacher, M., Noethen, M. M., Schumacher, J., Jenetzky, E., Reutter, H., Zwink, N., Choinitzki, V., Baudisch, F., Hoelscher, A., Boemers, T. M., Turial, S., Kurz, R., Heydweiller, A., Keppler, K., Mueller, A., Bagci, S., Pauly, M., Brokmeier, U., Leutner, A., Degenhardt, P., Schmiedeke, E., Maerzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Palta, M., Schaefer, M., Ure, B. M., Lacher, M., Noethen, M. M., Schumacher, J., Jenetzky, E., and Reutter, H.
- Abstract
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations involve differing environmental factors. Patients with isolated EA/TEF (n = 98), isolated ARM (n = 123), and the combined phenotype (n = 42) were included. Families were recruited within the context of two German multicenter studies of the genetic and environmental causes of EA/TEF (great consortium) and ARM (CURE-Net). Exposures of interest were ascertained using an epidemiological questionnaire. Chi-square, Fisher's exact, and Mann-Whitney U-tests were used to assess differences between the three phenotypes. Newborns with isolated EA/TEF and the combined phenotype had significantly lower birth weights than newborns with isolated ARM (P = 0.001 and P < 0.0001, respectively). Mothers of isolated EA/TEF consumed more alcohol periconceptional (80%) than mothers of isolated ARM or the combined phenotype (each 67%). Parental smoking (P = 0.003) and artificial reproductive techniques (P = 0.03) were associated with isolated ARM. Unexpectedly, maternal periconceptional multivitamin supplementation was most frequent among patients with the most severe form of disorder, i.e. the combined phenotype (19%). Significant differences in birth weight were apparent between the three phenotype groups. This might be attributable to the limited ability of EA/TEF fetuses to swallow amniotic fluid, thus d
- Published
- 2016
16. Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
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Zeidler C, Woelfle J, Markus Draaken, Ss, Mughal, Große G, Ac, Hilger, Gc, Dworschak, Tm, Boemers, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Schäfer M, Bartels E, Keppler K, Palta M, Leonhardt J, Kujath C, Rißmann A, Mm, Nöthen, Reutter H, and Ludwig M
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Anti-Mullerian Hormone ,Heart Defects, Congenital ,Male ,Heterozygote ,Fibroblast Growth Factor 8 ,Molecular Sequence Data ,Limb Deformities, Congenital ,Anal Canal ,Enzyme-Linked Immunosorbent Assay ,Kidney ,Polymerase Chain Reaction ,Esophagus ,Germany ,Cryptorchidism ,Humans ,Inhibins ,Testosterone ,DNA Primers ,Base Sequence ,Sequence Analysis, DNA ,Luteinizing Hormone ,Spine ,Trachea ,Gene Components ,Mutation ,Follicle Stimulating Hormone - Abstract
The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association.We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients presenting with a VATER/VACTERL-like phenotype (two cardinal features).We identified two heterozygous FGF8 mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER/VACTERL-like phenotype (p.Pro26Leu) without limb anomalies. Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome. Each mutation was paternally inherited. Besides delayed puberty in both and additional unilateral cryptorchidism in one of the fathers, they were otherwise healthy. Serum hormone levels downstream the gonadotropin-releasing hormone in both patients and their fathers were within normal range.Our results suggest FGF8 mutations to contribute to the formation of the VATER/VACTERL association. Further studies are needed to support this observation.
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- 2014
17. European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations
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Steeg, H.J.J. van der, Schmiedeke, E., Bagolan, P., Broens, P., Demirogullari, B., Garcia-Vazquez, A., Grasshoff-Derr, S., Lacher, M., Leva, E., Makedonsky, I., Sloots, C.E., Schwarzer, N., Aminoff, D., Schipper, M., Jenetzky, E., Rooij, I.A.L.M. van, Giuliani, S., Cretolle, C., Cunz, S. Holland, Midrio, P., Blaauw, I. de, Steeg, H.J.J. van der, Schmiedeke, E., Bagolan, P., Broens, P., Demirogullari, B., Garcia-Vazquez, A., Grasshoff-Derr, S., Lacher, M., Leva, E., Makedonsky, I., Sloots, C.E., Schwarzer, N., Aminoff, D., Schipper, M., Jenetzky, E., Rooij, I.A.L.M. van, Giuliani, S., Cretolle, C., Cunz, S. Holland, Midrio, P., and Blaauw, I. de
- Abstract
Contains fulltext : 155206.pdf (Publisher’s version ) (Open Access), The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with the aim of improving monitoring of treatment and outcome. The Krickenbeck classification of ARM and preoperative workup suggested by Levitt and Pena, used as a template, were discussed, and a collaborative consensus was achieved. The Krickenbeck classification is appropriate in describing ARM for clinical use. The preoperative workup was slightly modified. In males with a visible fistula, no cross-table lateral X-ray is needed and an anoplasty or (mini-) posterior sagittal anorectoplasty can directly be performed. In females with a small vestibular fistula (Hegar size <5 mm), a primary repair or colostomy is recommended; the repair may be delayed if the fistula admits a Hegar size >5 mm, and in the meantime, gentle painless dilatations can be performed. In both male and female perineal fistula and either a low birth weight (<2,000 g) or severe associated congenital anomalies, prolonged preoperative painless dilatations might be indicated to decrease perioperative morbidity caused by general anesthesia. The Krickenbeck classification is appropriate in describing ARM for clinical use. Some minor modifications to the preoperative workup by Levitt and Pena have been introduced in order to refine terminology and establish a comprehensive preoperative workup.
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- 2015
18. The Challenges of the European Anorectal Malformations-Net Registry
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Jenetzky, E., Rooij, I.A.L.M. van, Aminoff, D., Schwarzer, N., Reutter, H., Schmiedeke, E., Midrio, P., Blaauw, I. de, Jenetzky, E., Rooij, I.A.L.M. van, Aminoff, D., Schwarzer, N., Reutter, H., Schmiedeke, E., Midrio, P., and Blaauw, I. de
- Abstract
Item does not contain fulltext, Anorectal malformations (ARM) have a low prevalence, patients need specialized surgical care, and in many cases, patients born with ARM even need life-long aftercare. Due to its low prevalence most patients are still treated in low-volume pediatric surgical centers without any adequate monitoring of the outcome. Data on prevalence, comparison of different surgical techniques, and prospective outcome measurements are still scarce and difficult to interpret. In 2010, a consortium was founded (ARM-Net consortium) including several European pediatric surgical centers to collaborate more in research and share knowledge on ARM. One of the structures started by the consortium was an ARM-Net registry for the inclusion of all future patients treated in these centers. With this review, we report the structure of the ARM-Net registry, some of the results, and discuss the challenges we faced and still face after its introduction in 2010.
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- 2015
19. European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations
- Author
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van der Steeg, H.J.J. (H. J.J.), Schmiedeke, E. (Eberhard), Bagolan, P. (Pietro), Broens, P.M.A. (Paul), Demirogullari, B. (B.), Garcia–Vazquez, A., Grasshoff-Derr, S. (Sabine), Lacher, M. (M.), Leva, E. (Ernesto), Makedonsky, I. (I.), Sloots, C.E.J. (Pim), Schwarzer, S. (Stefan), Aminoff, D. (Dalia), Schipper, M. (Maarten), Jenetzky, E. (Ekkehart), Rooij, I.A.L.M. (Iris), Giuliani, S. (Stefano), Cretolle, C., Holland-Cunz, S. (Stefan), Midrio, P. (Paola), Blaauw, I. (Ivo) de, van der Steeg, H.J.J. (H. J.J.), Schmiedeke, E. (Eberhard), Bagolan, P. (Pietro), Broens, P.M.A. (Paul), Demirogullari, B. (B.), Garcia–Vazquez, A., Grasshoff-Derr, S. (Sabine), Lacher, M. (M.), Leva, E. (Ernesto), Makedonsky, I. (I.), Sloots, C.E.J. (Pim), Schwarzer, S. (Stefan), Aminoff, D. (Dalia), Schipper, M. (Maarten), Jenetzky, E. (Ekkehart), Rooij, I.A.L.M. (Iris), Giuliani, S. (Stefano), Cretolle, C., Holland-Cunz, S. (Stefan), Midrio, P. (Paola), and Blaauw, I. (Ivo) de
- Abstract
The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with the aim of improving monitoring of treatment and outcome. The Krickenbeck classification of ARM and preoperative workup suggested by Levitt and Peña, used as a template, were discussed, and a collaborative consensus was achieved. The Krickenbeck classification is appropriate in describing ARM for clinical use. The preoperative workup was slightly modified. In males with a visible fistula, no cross-table lateral X-ray is needed and an anoplasty or (mini-) posterior sagittal anorectoplasty can directly be performed. In females with a small vestibular fistula (Hegar size <5 mm), a primary repair or colostomy is recommended; the repair may be delayed if the fistula admits a Hegar size >5 mm, and in the meantime, gentle painless dilatations can be performed. In both male and female perineal fistula and either a low birth weight (<2,000 g) or severe associated congenital anomalies, prolonged preoperative painless dilatations might be indicated to decrease perioperative morbidity caused by general anesthesia. The Krickenbeck classification is appropriate in describing ARM for clinical use. Some minor modifications to the preoperative workup by Levitt and Peña have been introduced in order to refine terminology and establish a comprehensive preoperative workup.
- Published
- 2015
- Full Text
- View/download PDF
20. European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations
- Author
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van der Steeg, H J J, Schmiedeke, E, Bagolan, P, Broens, P, Demirogullari, B, Garcia-Vazquez, A, Grasshoff-Derr, S, Lacher, M, Leva, E, Makedonsky, I, Sloots, C.E.J., Schwarzer, N, Aminoff, D, Schipper, Marguérite, Jenetzky, E, van Rooij, IALM, Giuliani, S, Cretolle, C, Cunz, S H, Midrio, P, Blaauw, Ivo, van der Steeg, H J J, Schmiedeke, E, Bagolan, P, Broens, P, Demirogullari, B, Garcia-Vazquez, A, Grasshoff-Derr, S, Lacher, M, Leva, E, Makedonsky, I, Sloots, C.E.J., Schwarzer, N, Aminoff, D, Schipper, Marguérite, Jenetzky, E, van Rooij, IALM, Giuliani, S, Cretolle, C, Cunz, S H, Midrio, P, and Blaauw, Ivo
- Published
- 2015
21. Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families
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Zwink, N., primary, Choinitzki, V., additional, Baudisch, F., additional, Hölscher, A., additional, Boemers, T. M., additional, Turial, S., additional, Kurz, R., additional, Heydweiller, A., additional, Keppler, K., additional, Müller, A., additional, Bagci, S., additional, Pauly, M., additional, Brokmeier, U., additional, Leutner, A., additional, Degenhardt, P., additional, Schmiedeke, E., additional, Märzheuser, S., additional, Grasshoff-Derr, S., additional, Holland-Cunz, S., additional, Palta, M., additional, Schäfer, M., additional, Ure, B. M., additional, Lacher, M., additional, Nöthen, M. M., additional, Schumacher, J., additional, Jenetzky, E., additional, and Reutter, H., additional
- Published
- 2015
- Full Text
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22. Behandlungsmethoden und – erfolg bei stuhlinkontinenten Kindern nach Analatresie
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Pfeifle, V, Zwink, N, Jenetzky, E, Schmiedeke, E, Schwarzer, N, Grasshoff-Derr, S, Märzheuser, S, and Holland-Cunz, S
- Subjects
ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Kinder, die mit einer Analatresie geboren wurden, leiden oftmals an Stuhlinkontinenz, teilweise bis in ihr späteres Erwachsenenalter. Die Relevanz dieser Problematik zeigt auch eine jüngere Studie, welche eine hohe Prävalenz in Deutschland belegt. Es bestehen Hinweise darauf,[for full text, please go to the a.m. URL], 130. Kongress der Deutschen Gesellschaft für Chirurgie
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- 2013
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23. Stuhlkontinenz nach Korrektur anorektaler Fehlbildung – Übersicht über bestehende Kontinenzscores und Ergebnisse der multizentrischen CURE-Net Studie
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Kabs, C, Haff, M, Zwink, N, Schmiedeke, E, Reutter, H, Jenetzky, E, and Hosie, S
- Subjects
ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Fragestellung: Evaluation eines deutschen Kollektivs anorektaler Fehlbildungen anhand der Selbstbeurteilung im Krickenbeck-Outcome-Score und dem Cleveland Clinical Score (CCS). Material und Methoden: Das Operationsziel bei anorektalen Fehlbildungen ist die regelrechte Kontinenz. Zur Operationalisierung[for full text, please go to the a.m. URL], Süddeutsche Tage der Kinder- und Jugendmedizin; 61. Jahrestagung der Süddeutschen Gesellschaft für Kinder- und Jugendmedizin und der Süddeutschen Gesellschaft für Kinderchirurgie und dem Berufsverband für Kinder- und Jugendärzte – Landesverband Bayern
- Published
- 2012
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24. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
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Saisawat, P., Kohl, S., Hilger, A.C., Hwang, D.Y., Yung Gee, H., Dworschak, G.C., Tasic, V., Pennimpede, T., Natarajan, S., Sperry, E., Matassa, D.S., Stajic, N., Bogdanovic, R., Blaauw, I. de, Marcelis, C.L.M., Wijers, C.H.W., Bartels, E., Schmiedeke, E., Schmidt, D., Marzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Ludwig, M., Nothen, M.M., Draaken, M., Brosens, E., Heij, H., Tibboel, D., Herrmann, B.G., Solomon, B.D., Klein, A., Rooij, I.A.L.M. van, Esposito, F., Reutter, H.M., Hildebrandt, F., Saisawat, P., Kohl, S., Hilger, A.C., Hwang, D.Y., Yung Gee, H., Dworschak, G.C., Tasic, V., Pennimpede, T., Natarajan, S., Sperry, E., Matassa, D.S., Stajic, N., Bogdanovic, R., Blaauw, I. de, Marcelis, C.L.M., Wijers, C.H.W., Bartels, E., Schmiedeke, E., Schmidt, D., Marzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Ludwig, M., Nothen, M.M., Draaken, M., Brosens, E., Heij, H., Tibboel, D., Herrmann, B.G., Solomon, B.D., Klein, A., Rooij, I.A.L.M. van, Esposito, F., Reutter, H.M., and Hildebrandt, F.
- Abstract
Item does not contain fulltext, Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney and urinary tract in up to 60% of the cases. By homozygosity mapping and whole-exome resequencing combined with high-throughput mutation analysis by array-based multiplex PCR and next-generation sequencing, we identified recessive mutations in the gene TNF receptor-associated protein 1 (TRAP1) in two families with isolated CAKUT and three families with VACTERL association. TRAP1 is a heat-shock protein 90-related mitochondrial chaperone possibly involved in antiapoptotic and endoplasmic reticulum stress signaling. Trap1 is expressed in renal epithelia of developing mouse kidney E13.5 and in the kidney of adult rats, most prominently in proximal tubules and in thick medullary ascending limbs of Henle's loop. Thus, we identified mutations in TRAP1 as highly likely causing CAKUT or VACTERL association with CAKUT.
- Published
- 2014
25. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder
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Reutter, H., Draaken, M., Pennimpede, T., Wittler, L., Brockschmidt, F.F., Ebert, A.K., Bartels, E., Rosch, W., Boemers, T.M., Hirsch, K., Schmiedeke, E., Meesters, C.M.G., Becker, T., Stein, R., Utsch, B., Mangold, E., Nordenskjold, A., Barker, G., Kockum, C.C., Zwink, N., Holmdahl, G., Lackgren, G., Jenetzky, E., Feitz, W.F.J., Marcelis, C., Wijers, C.H.W., Rooij, I.A.L.M. van, Gearhart, J.P., Herrmann, B.G., Ludwig, M., Boyadjiev, S.A., Nothen, M.M., Mattheisen, M., Reutter, H., Draaken, M., Pennimpede, T., Wittler, L., Brockschmidt, F.F., Ebert, A.K., Bartels, E., Rosch, W., Boemers, T.M., Hirsch, K., Schmiedeke, E., Meesters, C.M.G., Becker, T., Stein, R., Utsch, B., Mangold, E., Nordenskjold, A., Barker, G., Kockum, C.C., Zwink, N., Holmdahl, G., Lackgren, G., Jenetzky, E., Feitz, W.F.J., Marcelis, C., Wijers, C.H.W., Rooij, I.A.L.M. van, Gearhart, J.P., Herrmann, B.G., Ludwig, M., Boyadjiev, S.A., Nothen, M.M., and Mattheisen, M.
- Abstract
Item does not contain fulltext, Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P = 8.88 x 10(-5); follow-up: P = 0.0025; combined: 1.09 x 10(-6)) in a highly conserved 32 kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
- Published
- 2014
26. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
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Hilger, A., Schramm, C., Pennimpede, T., Wittler, L., Dworschak, G.C., Bartels, E., Engels, H., Zink, A.M., Degenhardt, F., Muller, A.M., Schmiedeke, E., Grasshoff-Derr, S., Marzheuser, S., Hosie, S., Holland-Cunz, S., Wijers, C.H.W., Marcelis, C.L.M., Rooij, I.A.L.M. van, Hildebrandt, F., Herrmann, B.G., Nothen, M.M., Ludwig, M., Reutter, H., Draaken, M., Hilger, A., Schramm, C., Pennimpede, T., Wittler, L., Dworschak, G.C., Bartels, E., Engels, H., Zink, A.M., Degenhardt, F., Muller, A.M., Schmiedeke, E., Grasshoff-Derr, S., Marzheuser, S., Hosie, S., Holland-Cunz, S., Wijers, C.H.W., Marcelis, C.L.M., Rooij, I.A.L.M. van, Hildebrandt, F., Herrmann, B.G., Nothen, M.M., Ludwig, M., Reutter, H., and Draaken, M.
- Abstract
Item does not contain fulltext, The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We aimed to identify highly penetrant de novo copy number variations (CNVs) that contribute to VATER/VACTERL association. Array-based molecular karyotyping was performed in a cohort of 41 patients with VATER/VACTERL association and 6 patients with VATER/VACTERL-like phenotype including all of the patients' parents. Three de novo CNVs were identified involving chromosomal regions 1q41, 2q37.3, and 8q24.3 comprising one (SPATA17), two (CAPN10, GPR35), and three (EPPK1, PLEC, PARP10) genes, respectively. Pre-existing data from the literature prompted us to choose GPR35 and EPPK1 for mouse expression studies. Based on these studies, we prioritized GPR35 for sequencing analysis in an extended cohort of 192 patients with VATER/VACTERL association and VATER/VACTERL-like phenotype. Although no disease-causing mutation was identified, our mouse expression studies suggest GPR35 to be involved in the development of the VATER/VACTERL phenotype. Follow-up of GPR35 and the other genes comprising the identified duplications is warranted.
- Published
- 2013
27. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations
- Author
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Dworschak, G.C., Draaken, M., Marcelis, C., Blaauw, I. de, Pfundt, R.P., Rooij, I.A.L.M. van, Bartels, E., Hilger, A., Jenetzky, E., Schmiedeke, E., Grasshoff-Derr, S., Schmidt, D., Marzheuser, S., Hosie, S., Weih, S., Holland-Cunz, S., Palta, M., Leonhardt, J., Schafer, M., Kujath, C., Rissmann, A., Nothen, M.M., Zwink, N., Ludwig, M., Reutter, H., Dworschak, G.C., Draaken, M., Marcelis, C., Blaauw, I. de, Pfundt, R.P., Rooij, I.A.L.M. van, Bartels, E., Hilger, A., Jenetzky, E., Schmiedeke, E., Grasshoff-Derr, S., Schmidt, D., Marzheuser, S., Hosie, S., Weih, S., Holland-Cunz, S., Palta, M., Leonhardt, J., Schafer, M., Kujath, C., Rissmann, A., Nothen, M.M., Zwink, N., Ludwig, M., and Reutter, H.
- Abstract
Item does not contain fulltext, Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like associations. Both deletions overlap the previously defined critical region for ARM. Heterozygous Efnb2 murine knockout models presenting with mild ARM suggest EFNB2 as an excellent candidate gene in this region. Our patients showed a mild ARM phenotype, closely resembling that of the mouse. We performed a comprehensive mutation analysis of the EFNB2 gene in 331 patients with isolated ARM, or ARM as part of VATER/VACTERL or VATER/VACTERL-like associations. However, we did not identify any disease-causing mutations. Given the convincing argument for EFNB2 as a candidate gene for ARM, analyses of larger samples and screening of functionally relevant non-coding regions of EFNB2 are warranted. In conclusion, our report underlines the association of chromosome 13q deletions with ARM, suggesting that routine molecular diagnostic workup should include the search for these deletions. Despite the negative results of our mutation screening, we still consider EFNB2 an excellent candidate gene for contributing to the development of ARM in humans. (c) 2013 Wiley Periodicals, Inc.
- Published
- 2013
28. First results of a European multi-center registry of patients with anorectal malformations
- Author
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Blaauw, I. de, Wijers, C.H.W., Schmiedeke, E., Holland-Cunz, S., Gamba, P., Marcelis, C.L.M., Reutter, H., Aminoff, D., Schipper, M., Schwarzer, N., Grasshoff-Derr, S., Midrio, P., Jenetzky, E., Rooij, I.A.L.M. van, Blaauw, I. de, Wijers, C.H.W., Schmiedeke, E., Holland-Cunz, S., Gamba, P., Marcelis, C.L.M., Reutter, H., Aminoff, D., Schipper, M., Schwarzer, N., Grasshoff-Derr, S., Midrio, P., Jenetzky, E., and Rooij, I.A.L.M. van
- Abstract
Item does not contain fulltext, BACKGROUND: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. METHODS: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. RESULTS: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalities were present in 9%. Perineal fistulas were seen most in boys (42%) and girls (29%). Rare forms of ARM were found in 4% of the male and in 14% of the female patients. Forty-five percent of the patients had additional urogenital abnormalities. However, 32% of the patients were never screened for bladder abnormalities. Eight percent were never screened for renal malformations. In the majority of patients (79%), a PSARP was performed for the definitive reconstruction. CONCLUSION: This collaborative effort provides a representative basis to estimate incidence of ARM types, to discuss differences and similarities in treatment, and health consequences throughout Europe.
- Published
- 2013
29. Let's talk about sex. Sexualfunktion bei Menschen mit anorektaler Fehlbildung Ergebnisse der Cure-Net Studie
- Author
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Märzheuser, S, Schmidt, D, Schmiedeke, E, Jenetzky, E, Schwarzer, N, Märzheuser, S, Schmidt, D, Schmiedeke, E, Jenetzky, E, and Schwarzer, N
- Published
- 2013
30. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
- Author
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Saisawat, P. (Pawaree), Kohl, R.H.G., Hilger, A.C. (Alina C), Hwang, D.-Y. (Daw-Yang), Yung Gee, H. (Heon), Dworschak, G.C. (Gabriel C), Tasic, V. (Velibor), Pennimpede, T. (Tracie), Natarajan, S. (Sivakumar), Sperry, E. (Ethan), Matassa, D.S. (Danilo S), Stajic, N. (Natasa), Bogdanovic, R. (Radovan), Blaauw, I. (Ivo) de, Marcelis, C.L.M. (Carlo), Wijers, C.H.W. (Charlotte), Bartels, E. (Enrika), Schmiedeke, E. (Eberhard), Schmidt, D. (Dedan), Märzheuser, S. (Stefanie), Grasshoff-Derr, S. (Sabine), Holland-Cunz, S. (Stefan), Ludwig, M. (Michael), Nöthen, M.M. (Markus), Draaken, M. (Markus), Brosens, E. (Erwin), Heij, H.A. (Hugo Anne), Tibboel, D. (Dick), Herrmann, B.G. (Bernhard G), Solomon, B.D. (Benjamin D), Klein, J.E.M.M. (Annelies) de, Rooij, I.A.L.M. (Iris), Esposito, F. (Francesco), Reutter, H. (Heiko), Hildebrandt, F. (Friedhelm), Saisawat, P. (Pawaree), Kohl, R.H.G., Hilger, A.C. (Alina C), Hwang, D.-Y. (Daw-Yang), Yung Gee, H. (Heon), Dworschak, G.C. (Gabriel C), Tasic, V. (Velibor), Pennimpede, T. (Tracie), Natarajan, S. (Sivakumar), Sperry, E. (Ethan), Matassa, D.S. (Danilo S), Stajic, N. (Natasa), Bogdanovic, R. (Radovan), Blaauw, I. (Ivo) de, Marcelis, C.L.M. (Carlo), Wijers, C.H.W. (Charlotte), Bartels, E. (Enrika), Schmiedeke, E. (Eberhard), Schmidt, D. (Dedan), Märzheuser, S. (Stefanie), Grasshoff-Derr, S. (Sabine), Holland-Cunz, S. (Stefan), Ludwig, M. (Michael), Nöthen, M.M. (Markus), Draaken, M. (Markus), Brosens, E. (Erwin), Heij, H.A. (Hugo Anne), Tibboel, D. (Dick), Herrmann, B.G. (Bernhard G), Solomon, B.D. (Benjamin D), Klein, J.E.M.M. (Annelies) de, Rooij, I.A.L.M. (Iris), Esposito, F. (Francesco), Reutter, H. (Heiko), and Hildebrandt, F. (Friedhelm)
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- 2013
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31. VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.
- Author
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Bartels, E., Schulz, A.C., Mora, N.W., Pineda-Alvarez, D.E., Wijers, C.H.W., Marcelis, C.M., Stressig, R., Ritgen, J., Schmiedeke, E., Mattheisen, M., Draaken, M., Hoffmann, P., Hilger, A.C., Dworschak, G.C., Baudisch, F., Ludwig, M., Bagci, S., Muller, A., Gembruch, U., Geipel, A., Berg, C. van den, Bartmann, P., Nothen, Markus, Rooij, I.A.L.M. van, Solomon, B.D., Reutter, H.M., Bartels, E., Schulz, A.C., Mora, N.W., Pineda-Alvarez, D.E., Wijers, C.H.W., Marcelis, C.M., Stressig, R., Ritgen, J., Schmiedeke, E., Mattheisen, M., Draaken, M., Hoffmann, P., Hilger, A.C., Dworschak, G.C., Baudisch, F., Ludwig, M., Bagci, S., Muller, A., Gembruch, U., Geipel, A., Berg, C. van den, Bartmann, P., Nothen, Markus, Rooij, I.A.L.M. van, Solomon, B.D., and Reutter, H.M.
- Abstract
1 oktober 2012, Item does not contain fulltext, The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin pairs with an initial diagnosis of VATER/VACTERL association at our clinical centers led to the performance of a classical twin study. This involved a thorough evaluation of these 14 twin pairs and a further 55 twin pairs identified from a systematic review of the literature. The zygosity, concordance, and malformation status of all 69 twin pairs were evaluated. Twenty-four twin pairs fulfilled the criteria for inclusion in a comparison of the concordance rates between monozygous (MZ) and dizygous (DZ) twin pairs. The pairwise concordance rates were 15% [95% confidence interval (CI) 4-42%] for MZ and 18% (95% CI 5-48%) for DZ twin pairs (P=0.53). The probandwise concordance rates were 27% (95% CI 11-52%) for MZ and 31% (95% CI 13-58%) for DZ twin pairs (P=0.40). Although based on a limited number of twin pairs, the findings of the present study are consistent with the low number of familial cases reported to date, and suggest that the role of inherited genetic factors in the majority of VATER/VACTERL cases is limited.
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- 2012
32. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
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Wijers, C.H.W., Blaauw, I. de, Marcelis, C.L.M., Wijnen, R.M.H., Brunner, H.G., Midrio, P., Gamba, P., Clementi, M., Jenetzky, E., Zwink, N., Reutter, H., Bartels, E., Grasshoff-Derr, S., Holland-Cunz, S., Hosie, S., Marzheuser, S., Schmiedeke, E., Cretolle, C., Sarnacki, S., Levitt, M.A., Knoers, N.V.A.M., Roeleveld, N., Rooij, I.A.L.M. van, Wijers, C.H.W., Blaauw, I. de, Marcelis, C.L.M., Wijnen, R.M.H., Brunner, H.G., Midrio, P., Gamba, P., Clementi, M., Jenetzky, E., Zwink, N., Reutter, H., Bartels, E., Grasshoff-Derr, S., Holland-Cunz, S., Hosie, S., Marzheuser, S., Schmiedeke, E., Cretolle, C., Sarnacki, S., Levitt, M.A., Knoers, N.V.A.M., Roeleveld, N., and Rooij, I.A.L.M. van
- Abstract
1 november 2010, Contains fulltext : 89406.pdf (publisher's version ) (Closed access), PURPOSE: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities. METHODS: The consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case-parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study. Questionnaires inquiring about circumstances before and during pregnancy will be used to obtain environmental risk factor data. RESULTS: Currently, 701 ARM cases have been recruited throughout Europe. Clinical data are available from all cases, and DNA samples and questionnaire data mainly from the Dutch and German cases. Preliminary analyses on environmental risk factors in the Dutch and German cohort found associations between ARM and family history of ARM, fever during first trimester of pregnancy and maternal job exposure to cleaning agents and solvents. CONCLUSION: First results show that both genetic and environmental factors may contribute to the multifactorial etiology of ARM. The International Consortium on Anorectal Malformations will provide possibilities to study and detect important genes and environmental risk factors for ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention.
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- 2010
33. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
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Wijers, C.H.W. (Charlotte), Blaauw, I. (Ivo) de, Marcelis, C.L.M. (Carlo), Wijnen, R.M.H. (René), Brunner, H. (Han), Midrio, P. (Paola), Gamba, P. (Piergiorgio), Clementi, M. (Maurizio), Jenetzky, E. (Ekkehart), Zwink, N. (Nadine), Reutter, H. (Heiko), Bartels, E. (Enrika), Grasshoff-Derr, S. (Sabine), Holland-Cunz, S. (Stefan), Hosie, S. (Stuart), Märzheuser, S. (Stefanie), Schmiedeke, E. (Eberhard), Crétolle, C. (Célia), Sarnacki, S. (Sabine), Levitt, M.A. (Marc), Knoers, N.V.A.M. (Nine), Roeleveld, N. (Nel), Rooij, I.A.L.M. (Iris), Wijers, C.H.W. (Charlotte), Blaauw, I. (Ivo) de, Marcelis, C.L.M. (Carlo), Wijnen, R.M.H. (René), Brunner, H. (Han), Midrio, P. (Paola), Gamba, P. (Piergiorgio), Clementi, M. (Maurizio), Jenetzky, E. (Ekkehart), Zwink, N. (Nadine), Reutter, H. (Heiko), Bartels, E. (Enrika), Grasshoff-Derr, S. (Sabine), Holland-Cunz, S. (Stefan), Hosie, S. (Stuart), Märzheuser, S. (Stefanie), Schmiedeke, E. (Eberhard), Crétolle, C. (Célia), Sarnacki, S. (Sabine), Levitt, M.A. (Marc), Knoers, N.V.A.M. (Nine), Roeleveld, N. (Nel), and Rooij, I.A.L.M. (Iris)
- Abstract
Purpose: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities. Methods: The consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case-parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study. Questionnaires inquiring about circumstances before and during pregnancy will be used to obtain environmental risk factor data. Results: Currently, 701 ARM cas
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- 2010
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34. De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation
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Bartels, E., primary, Draaken, M., additional, Kazmierczak, B., additional, Spranger, S., additional, Schramm, C., additional, Baudisch, F., additional, Nöthen, M.M., additional, Schmiedeke, E., additional, Ludwig, M., additional, and Reutter, H., additional
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- 2011
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35. S4e - Phimose
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BARTSCH, H., SCHMIEDEKE, E., and TRÖBS, R.-B.
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- 2015
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36. Systematische Erforschung der Ursachen sowie operativen und psychosozialen Langzeitergebnisse uro-rektaler Fehlbildungen
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Schmiedeke, E, primary, Reutter, H, additional, Jenetzky, E, additional, Schwarzer, N, additional, Grasshoff, S, additional, Hosie, S, additional, Holland-Cunz, S, additional, Reifferscheid, P, additional, and Märzheuser, S, additional
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- 2010
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37. European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations.
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Steeg, H., Schmiedeke, E., Bagolan, P., Broens, P., Demirogullari, B., Garcia-Vazquez, A., Grasshoff-Derr, S., Lacher, M., Leva, E., Makedonsky, I., Sloots, C., Schwarzer, N., Aminoff, D., Schipper, M., Jenetzky, E., Rooij, I., Giuliani, S., Crétolle, C., Holland Cunz, S., and Midrio, P.
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- *
RECTAL diseases , *COLOSTOMY , *FISTULA , *PREOPERATIVE care ,DIAGNOSIS of neonatal diseases - Abstract
The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with the aim of improving monitoring of treatment and outcome. The Krickenbeck classification of ARM and preoperative workup suggested by Levitt and Peña, used as a template, were discussed, and a collaborative consensus was achieved. The Krickenbeck classification is appropriate in describing ARM for clinical use. The preoperative workup was slightly modified. In males with a visible fistula, no cross-table lateral X-ray is needed and an anoplasty or (mini-) posterior sagittal anorectoplasty can directly be performed. In females with a small vestibular fistula (Hegar size <5 mm), a primary repair or colostomy is recommended; the repair may be delayed if the fistula admits a Hegar size >5 mm, and in the meantime, gentle painless dilatations can be performed. In both male and female perineal fistula and either a low birth weight (<2,000 g) or severe associated congenital anomalies, prolonged preoperative painless dilatations might be indicated to decrease perioperative morbidity caused by general anesthesia. The Krickenbeck classification is appropriate in describing ARM for clinical use. Some minor modifications to the preoperative workup by Levitt and Peña have been introduced in order to refine terminology and establish a comprehensive preoperative workup. [ABSTRACT FROM AUTHOR]
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- 2015
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38. Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study
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Zwink Nadine, Jenetzky Ekkehart, Schmiedeke Eberhard, Schmidt Dominik, Märzheuser Stefanie, Grasshoff-Derr Sabine, Holland-Cunz Stefan, Weih Sandra, Hosie Stuart, Reifferscheid Peter, Ameis Helen, Kujath Christina, Rißmann Anke, Obermayr Florian, Schwarzer Nicole, Bartels Enrika, Reutter Heiko, and Brenner Hermann
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Anorectal malformation ,Imperforate anus ,Anal atresia ,Reproductive medicine ,Assisted reproductive techniques ,Medicine - Abstract
Abstract Background The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malformations. Therefore, we assessed the risk of anorectal malformations (ARM) after in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Methods Data of the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared to nationwide data of the German IVF register and the Federal Statistical Office (DESTATIS). Odds ratios (95% confidence intervals) were determined to quantify associations using multivariable logistic regression accounting for potential confounding or interaction by plurality of births. Results In total, 295 ARM patients born between 1997 and 2011 in Germany, who were recruited through participating pediatric surgeries from all over Germany and the German self-help organisation SoMA, were included. Controls were all German live-births (n = 10,069,986) born between 1997 and 2010. Overall, 30 cases (10%) and 129,982 controls (1%) were born after IVF or ICSI, which translates to an odds ratio (95% confidence interval) of 8.7 (5.9–12.6) between ART and ARM in bivariate analyses. Separate analyses showed a significantly increased risk for ARM after IVF (OR, 10.9; 95% CI, 6.2–19.0; P Conclusions There is a strongly increased risk for ARM among children born after ART. Elevations of risk were seen after both IVF and ICSI. Further, separate analyses of patients with isolated ARM, ARM with associated anomalies and those with a VATER/VACTERL association showed increased risks in each group. An increased risk of ARM was also seen among both singletons and multiple births.
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- 2012
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39. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
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Rufeng Dai, Shrikant Mane, Marcello Scala, Shirlee Shril, Alina C. Hilger, Dervla M. Connaughton, Franziska Kause, Heidi L. Rehm, Bernd Hoppe, Gianluca Piatelli, Stefanie Märzheuser, Makiko Nakayama, Caroline M. Kolvenbach, Richard P. Lifton, Vincenzo Nigro, Luca Schierbaum, Thomas M. Kitzler, Friedhelm Hildebrandt, Eberhard Schmiedeke, Gabriel C. Dworschak, Sophia Schneider, Heiko Reutter, Annalaura Torella, Valeria Capra, Amelie T. van der Ven, Ronen Schneider, Nina Mann, Andrea Accogli, Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Marzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H., and Hildebrandt, F.
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Male ,medicine.medical_specialty ,Candidate gene ,Heart Diseases ,Tracheoesophageal fistula ,Kidney ,digestive system ,Gastroenterology ,Article ,VATER/VACTERL association ,03 medical and health sciences ,anorectal malformation (ARM) ,monogenic disease causation ,Genes, X-Linked ,Internal medicine ,Exome Sequencing ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,HSP90 Heat-Shock Proteins ,Exome ,Esophageal Atresia ,Genetics (clinical) ,Exome sequencing ,Genetic Association Studies ,030304 developmental biology ,Phenocopy ,Hemizygote ,Homeodomain Proteins ,0303 health sciences ,business.industry ,exome sequencing (WES) ,030305 genetics & heredity ,Receptors, Interleukin ,medicine.disease ,VACTERL association ,Phenotype ,digestive system diseases ,Anorectal Malformations ,3. Good health ,DNA-Binding Proteins ,Cytoskeletal Proteins ,congenital anomalies of the kidneys and urinary tract (CAKUT) ,HOXD13 ,Female ,business ,Tracheoesophageal Fistula ,Transcription Factors - Abstract
INTRODUCTION: The acronym VATER/VACTERL refers to the rare non-random association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL-like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN and ZIC3 have been associated with the VATER/VACTERL association; however, large-scale re-sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. METHODS: In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL-like phenotype to identify potentially novel genetic causes. RESULTS: Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. CONCLUSION: Our study suggests six biallelic and X-chromosomal hemizygous VATER/VACTERL disease gene implicating all six genes in the expression of human renal malformations.
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- 2021
40. Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study.
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Ebert, A K, Zwink, N, Jenetzky, E, Stein, R, Boemers, T M, Lacher, M, Fortmann, C, Obermayr, F, Fisch, M, Mortazawi, K, Schmiedeke, E, Eisenschmidt, V, Schäfer, M, Hirsch, K, Rösch, W H, Reutter, H, Ebert, Anne-Karoline, Zwink, Nadine, Jenetzky, Ekkehart, and Stein, Raimund
- Abstract
Objective: To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields.Materials and Methods: Seventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data as well as from a physical examination during a physician's interview, classified according to the international statistical classification of diseases and related health problems and grouped with the London Dysmorphology Database. Descriptive statistical analyses were performed.Results: Majority of participants were male (68%) and expressed the classical bladder exstrophy phenotype (71%). Exstrophy variants occurred significantly more often in newborns (21%, P < .0001). Anomalies such as inguinal hernias, skeleton, and joint anomalies were equally present in both groups (P = .65 and P = .67). Heart defects were seen more often in newborns (6%) than in the cross-sectional group (1%; P = .033) and the general German population (1%). In total, 59% of the prospective and 48% of the cross-sectional patients had associated anomalies outside the spectrum (P = .16).Conclusion: Phenomenological multicenter data confirmed the dimension of associated anomalies inside and outside the EEC spectrum. The detected anomalies are either important in preparing for the primary reconstruction or later in long-term follow-up. Associated anomalies of EEC should be spotlighted during routine check-up in all EEC patients. [ABSTRACT FROM AUTHOR]- Published
- 2018
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41. ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics.
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Aubert O, Irvine WFE, Aminoff D, de Blaauw I, Cascio S, Cretolle C, Iacobelli BD, Mantzios K, Midrio P, Miserez M, Sarnacki S, Schmiedeke E, Schwarzer N, Sloots C, Stenström P, Lacher M, and Gosemann JH
- Abstract
Introduction: Anorectal malformations (ARMs) are rare congenital anomalies that involve the anus, rectum, and oftentimes the genitourinary tract. The management of ARM patients is complex, and many controversies exist. To address this issue, the European Reference Network eUROGEN for rare and complex urogenital conditions aimed to develop comprehensive guidelines for the management of ARM., Methods: The Dutch Quality Standard for ARM served as the basis for the development of guidelines applicable on a European level. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from 7 European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected, and recommendations were formed considering current evidence and/or expert consensus., Results: Prenatal and neonatal diagnostic workup as well as postsurgical follow-up of anorectal, genitourinary tract, and neurologic system were reviewed. Seven new studies were identified. The panel adapted 13 recommendations, adopted 7, and developed 8 de novo. The availability of high-quality evidence was limited, and most recommendations were based on retrospective studies, case series, or expert opinion., Conclusion: Patients with ARM and their families require highly specialized and comprehensive care from the prenatal period to adulthood. This guideline provides recommendations for a comprehensive diagnostic workup of children with ARM throughout their life that is applicable on a European level., Competing Interests: We would like to disclose that two of the authors of this adaptation report (I.D.B., C.E.J.S.) were also authors of the Dutch Quality Standard. However, it is important to note that neither I.D.B. nor C.E.J.S. has any conflict of interest to declare and they did not advocate for any particular viewpoints or positions in relation to the content of the Dutch Quality Standard. No conflicting interests were declared from the other authors., (Thieme. All rights reserved.)
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- 2024
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42. ERN eUROGEN Guidelines on the Management of Anorectal Malformations, Part IV: Organization of Care and Communication between Providers.
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Aubert O, Irvine W, Aminoff D, de Blaauw I, Cascio S, Cretolle C, Iacobelli BD, Lacher M, Mantzios K, Midrio P, Miserez M, Sarnacki S, Schmiedeke E, Sloots C, Stenström P, Schwarzer N, and Gosemann JH
- Abstract
Introduction: Being born with an anorectal malformation (ARM) can have profound and lifelong implications for patients and parents. Organization of care and communication between health care providers is an overlooked area of patient care. The European Reference Network eUROGEN for rare and complex urogenital conditions assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM., Methods: The Dutch Quality Standard for ARM served as the basis for the development of guidelines. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from seven European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected and recommendations were formed considering all available evidence, expert consensus, and the European context., Results: Aspects pertaining to organization of care, patient/parent/health care provider communication, and referral and collaboration between providers caring for ARM patients were assessed. Two new studies were identified. In total, the panel adapted 12 recommendations, adopted 7, and developed 2 de novo. The overall level of newly found evidence was considered low and most recommendations were based on expert opinion., Conclusion: Collaborative care and organization of care are gaining importance in the field of ARM. This guideline gives practical guidance on how to achieve better communication and collaboration between all involved parties, applicable at the European level., Competing Interests: We would like to disclose that two of the authors of this adaptation report (I.D.B., C.S.) were also authors of the Dutch Quality Standard. However, it is important to note that neither I.D.B. nor C.S. has any conflict of interest to declare and they did not advocate for any particular viewpoints or positions in relation to the content of the Dutch Quality Standard. No conflicting interests were declared from the other authors., (Thieme. All rights reserved.)
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- 2024
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43. European Reference Network eUROGEN Guidelines on the Management of Anorectal Malformations, Part II: Treatment.
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Aubert O, Irvine WFE, Aminoff D, de Blaauw I, Cascio S, Cretolle C, Iacobelli BD, Mantzios K, Midrio P, Miserez M, Sarnacki S, Schmiedeke E, Schwarzer N, Sloots C, Stenström P, Lacher M, and Gosemann JH
- Abstract
Introduction: Anorectal malformations (ARMs) are rare birth defects affecting the anorectum and oftentimes the genitourinary region. The management of ARM patients is complex and requires highly specialized surgical and medical care. The European Reference Network eUROGEN for rare and complex urogenital conditions aimed to develop comprehensive guidelines for the management of ARM applicable on a European level., Methods: The Dutch Quality Standard for ARM served as the basis for the development of guidelines. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from seven European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected and recommendations were formed considering the current evidence, expert opinion, and the European context., Results: Surgical and medical treatment of ARM, postoperative instructions, toilet training, and management of fecal and urinary incontinence were addressed. Seven new studies were identified. The panel adapted 23 recommendations, adopted 3, and developed 8 de novo. The overall level of newly found evidence was considered low., Conclusion: Treatment of ARM patients requires a multidisciplinary team and expertise about anatomical and surgical aspects of the disease, as well as long-term follow-up. This guideline offers recommendations for surgical and medical treatment of ARM and associated complications, according to the best available evidence and applicable on a European level., Competing Interests: The authors would like to disclose that two of the authors of this adaptation report (I.D.B., C.S.) were also authors of the Dutch Quality Standard. However, it is important to note that neither I.D.B. nor C.S. has any conflict of interest to declare and they did not advocate for any particular viewpoints or positions in relation to the content of the Dutch Quality Standard. No conflicting interests were declared from the other authors., (Thieme. All rights reserved.)
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- 2024
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44. ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care.
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Aubert O, Irvine WFE, Aminoff D, de Blaauw I, Cascio S, Cretolle C, Iacobelli BD, Lacher M, Mantzios K, Miserez M, Sarnacki S, Schmiedeke E, Schwarzer N, Sloots C, Stenström P, Midrio P, and Gosemann JH
- Abstract
Introduction: Anorectal malformations (ARMs) are complex congenital anomalies of the anorectal region, oftentimes also affecting the genitourinary system. Although successful surgical correction can often be achieved in the neonatal period, many children will experience functional problems in the long term. The European Reference Network for rare and complex urogenital conditions (eUROGEN) assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM., Methods: The Dutch Quality Standard for ARM served as the foundation for the development of guidelines applicable on a European level. Literature was searched in Medline, Embase, and Cochrane. The ADAPTE method was utilized to incorporate the newest available evidence. A panel of 15 experts from 7 European countries assessed currency, acceptability, and applicability of recommendations. Recommendations from the Dutch Quality Standard were adapted, adopted, or rejected and recommendations were formed considering the current evidence and/or expert consensus., Results: Lifelong follow-up, integration, and transition of care were assessed. A total of eight new studies were identified. The panel adapted 18 recommendations, adopted 6, and developed 6 de novo. Overall, the level of evidence was considered low., Conclusion: Successful lifelong follow-up and transition of care require a dedicated team of pediatric and adult specialist and an individually tailored patient-centered approach. This guideline summarizes the best available evidence on follow-up of ARM patients and provides guidance for the development of structured transition programs., Competing Interests: We would like to disclose that two of the authors of this adaptation report (IDB, CEJS) were also authors of the Dutch Quality Standard. However, it is important to note that neither IDB nor CEJS have any conflict of interest to declare and they did not advocate for any particular viewpoints or positions in relation to the content of the Dutch Quality Standard. No conflicting interests were declared from the other authors., (Thieme. All rights reserved.)
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- 2024
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45. The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics.
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Hageman IC, Midrio P, van der Steeg HJJ, Jenetzky E, Iacobelli BD, Morandi A, Sloots CEJ, Schmiedeke E, Broens PMA, Fascetti Leon F, Çavuşoğlu YH, Gorter RR, Trajanovska M, King SK, Aminoff D, Schwarzer N, Haanen M, de Blaauw I, and van Rooij IALM
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- Humans, Anal Canal surgery, Registries, Retrospective Studies, Anorectal Malformations surgery
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- 2024
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46. Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
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Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, and Reutter H
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- Male, Humans, Exome genetics, Urinary Bladder metabolism, Calcium-Binding Proteins genetics, Membrane Proteins genetics, Transcription Factors genetics, Transcription Factors metabolism, Bladder Exstrophy genetics, Epispadias genetics
- Abstract
Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well., Methods: Herein, we performed an exome analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, we surveyed the exome of a sib-pair presenting with classic bladder exstrophy (CBE) and epispadias (E) only. Moreover, we performed large-scale re-sequencing of CBE individuals for novel candidate genes that were derived from the current exome analysis, as well as for previously reported candidate genes within the CBE phenocritical region, 22q11.2., Results: The exome survey in the CE case-parent trios identified two candidate genes harboring de novo variants ( NR1H2 , GKAP1 ), four candidate genes with autosomal-recessive biallelic variants ( AKR1B10 , CLSTN3 , NDST4 , PLEKHB1 ) and one candidate gene with suggestive uniparental disomy ( SVEP1 ). However, re-sequencing did not identify any additional variant carriers in these candidate genes. Analysis of the affected sib-pair revealed no candidate gene. Re-sequencing of the genes within the 22q11.2 CBE phenocritical region identified two highly conserved frameshift variants that led to early termination in two independent CBE males, in LZTR1 (c.978_985del, p.Ser327fster6) and in SLC7A4 (c.1087delC, p.Arg363fster68)., Conclusions: According to previous studies, our study further implicates LZTR1 in CBE formation. Exome analysis-derived candidate genes from CE individuals may not represent a frequent indicator for other BEEC phenotypes and warrant molecular analysis before their involvement in disease formation can be assumed.
- Published
- 2023
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47. Patients' Quality of Life is Severely Impacted by Mere Discussions without Realization of the Imperative Centralization of Specialist Surgery and Subsequent After-Care.
- Author
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Schmiedeke E, Schwarzer N, Widenmann-Grolig A, Aminoff D, and Slater G
- Subjects
- Humans, Pediatrics, General Surgery, Quality of Life, Aftercare
- Abstract
Competing Interests: None declared.
- Published
- 2023
- Full Text
- View/download PDF
48. Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
- Author
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Fabian J, Dworschak GC, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, Sivalingam S, Buness A, Schwarzer N, Boemers TM, Schmiedeke E, Neser J, Leonhardt J, Kosch F, Weih S, Gielen HM, Hosie S, Kabs C, Palta M, Märzheuser S, Bode LM, Lacher M, Schäfer FM, Stehr M, Knorr C, Ure B, Kleine K, Rolle U, Zaniew M, Phillip G, Zwink N, Jenetzky E, Reutter H, and Hilger AC
- Subjects
- Humans, Chromosome Aberrations, Karyotyping, DNA Copy Number Variations, Anorectal Malformations genetics
- Abstract
Anorectal malformations (ARM) represent a spectrum of rare malformations originating from a perturbated development of the embryonic hindgut. Approximately 60% occur as a part of a defined genetic syndrome or within the spectrum of additional congenital anomalies. Rare copy number variations (CNVs) have been associated with both syndromic and non-syndromic forms. The present study represents the largest study to date to explore the contribution of CNVs to the expression of ARMs. SNP-array-based molecular karyotyping was applied in 450 individuals with ARM and 4392 healthy controls. CNVs were identified from raw intensity data using PennCNV. Overlapping CNVs between cases and controls were discarded. Remaining CNVs were filtered using a stringent filter algorithm of nine filter steps. Prioritized CNVs were confirmed using qPCR. Filtering prioritized and qPCR confirmed four microscopic chromosomal anomalies and nine submicroscopic CNVs comprising seven microdeletions (del2p13.2, del4p16.2, del7q31.33, del9p24.1, del16q12.1, del18q32, del22q11.21) and two microduplications (dup2p13.2, dup17q12) in 14 individuals (12 singletons and one affected sib-pair). Within these CNVs, based on their embryonic expression data and function, we suggest FOXK2, LPP, and SALL3 as putative candidate genes. Overall, our CNV analysis identified putative microscopic and submicroscopic chromosomal rearrangements in 3% of cases. Functional characterization and re-sequencing of suggested candidate genes is warranted., (© 2022. The Author(s).)
- Published
- 2023
- Full Text
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49. Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study.
- Author
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Morandi A, Fanjul M, Iacobelli BD, Samuk I, Aminoff D, Midrio P, de Blaauw I, Schmiedeke E, Pini Prato A, Feitz W, van der Steeg HJJ, Minoli DG, Sloots CEJ, Fascetti-Leon F, Makedonsky I, Garcia A, and Stenström P
- Subjects
- Child, Male, Humans, Infant, Newborn, Retrospective Studies, Recurrence, Orchitis complications, Orchitis diagnosis, Anorectal Malformations complications, Anorectal Malformations surgery, Epididymitis complications, Epididymitis diagnosis
- Abstract
Introduction: To investigate the current experience of the ARM-Net Consortium in the management of epididymo-orchitis (EO) in patients with anorectal malformations (ARMs), and to identify specific risk factors and the need for urological care involvement., Materials and Methods: We retrospectively collected data of EO in patients with ARM between 2015 and 2019. Data on urological aspects, ARM type, surgical approach, associated anomalies, diagnosis, and treatment of EO were collected and analyzed., Results: Twenty-nine patients were reported by 12 centers. Twenty-six patients with EO (90%) had ARM with a rectourinary fistula. Median age at first EO was 2 years (range: 15 days-27 years). Twenty patients (69%) experienced multiple EO, and 60% of recurrences were ipsilateral. Associated urological anomalies included vesicoureteral reflux (48%), urethral anomalies (41%), neurogenic bladder (41%), and ectopic vas (10%). A positive urine culture during EO was present in 69%. EO was treated with antibiotics (90%), limiting surgical exploration to 14%. Prevention of recurrences included surgery (bulking agents 15%, vasectomy 15%, and orchiectomy 5%) and antibiotic prophylaxis (20%)., Conclusion: Urologists may encounter patients with EO in ARM patients, frequently with positive urine culture. An appropriate urologic work-up for most ARM patients is necessary to identify and treat underlying risk factors. A practical scheme for the work-up is suggested for a close collaboration between pediatric surgeons and urologists., Competing Interests: None declared., (Thieme. All rights reserved.)
- Published
- 2022
- Full Text
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50. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
- Author
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Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, and Reutter H
- Subjects
- Humans, Animals, Mice, Genome-Wide Association Study, Transcriptome, Ephrin-A1 genetics, Bladder Exstrophy genetics, Bladder Exstrophy complications, Urinary Bladder Neoplasms genetics
- Abstract
Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel. In these regions reside ten coding and four non-coding genes. Among the coding genes is EFNA1, strongly expressed in mouse embryonic genital tubercle, urethra, and primitive bladder. Re-sequence of EFNA1 in the investigated classic bladder exstrophy cohort of our study displays an enrichment of rare protein altering variants. We show that all coding genes are expressed and/or significantly regulated in both mouse and human embryonic developmental bladder stages. Furthermore, nine of the coding genes residing in the regions of genome-wide significance are differentially expressed in bladder cancers. Our data suggest genetic drivers for classic bladder exstrophy, as well as a possible role for these drivers to relevant bladder cancer susceptibility., (© 2022. The Author(s).)
- Published
- 2022
- Full Text
- View/download PDF
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