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5. Primärer und sekundärer Megaureter

Author

Hosie, Stuart, Ebert, Anne-Karoline, Weber, Lutz T., Stein, Raimund, editor, Weber, Lutz T., editor, Younsi, Nina, editor, Zahn, Katrin, editor, and Stehr, Maximilian, editor

Published
2023
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6. Transitional Care for Patients with Congenital Colorectal Diseases: An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture

Author

Abbo, Olivier, Angotti, Rossella, Antunovic, Sanja Sindjic, Anzelewicz, Stefan, Arneitz, Christoph, Arnold, Marion, Assi, Zaki, Aydin, Emrah, Ballouhey, Quentin, Barila, Patricia, Basson, Sonia, Besendorfer, Manuel, Di Cesare, Antonio, Dariel, Anne, Dekeryte, Inga, Djordjevic, Ivona, Domenichelli, Vincenzo, Duranteau, Lise, Durakbasa, Cigdem, Ebert, Anne-Karoline, Ellerkamp, Verena, Leon, Francesco Fascetti, Fisch, Margit, Vazquez, Araceli García, Gielok, Christoph, Bahadir, Gulnur Gollu, Haecker, Frank-Martin, Holmdahl, Gundela, Irtan, Sabine, Jones, Ceri, Kakar, Mohit, Keshtgar, Ali, Kvist, Kolja, Laconi, Francesco, Laurance, Marie, Candel, Eduardo Lopez, Ludwiczek, Johanna, Ludwikowski, Barbara, Macchini, Francesco, Malota, Mark, Matthyssens, Lucas, Martin, Benjamin, Martinez, Leopoldo, Midrio, Paola, Miserez, Marc, Mosiello, Giovanni, Pascual, Francisco Murcia, Nunez, Bernardo, Olén, Roger, Öztorun, Can İhsan, Parlak, Ayse, Prato, Alessio Pini, Poupalou, Anna, Arias, Marcos Prada, Prat, Jordi, Gil, Carlos Pueyo, Avila Ramirez, Luis Felipe, Reingruber, Bertram, Riccipetitoni, Giovanna, Riechardt, Silke, Risteski, Toni, Rogula, Wojciech, Rolle, Udo, Romeo, Carmelo, Schäfer, Frank-Mattias, Scirè, Gabriella, Sfeir, Rony, Singer, Georg, Sloots, Pim, Stanton, Michael, Stenström, Pernilla, Stockinger, Maria, Surhan, M., Suominen, Janne, Syed, Julia, Talon, Isabelle, Tanriverdi, Halil Ibrahim, Uzunlu, Osman, Valfre, Laura, Witvliet, Marieke, Zambaiti, Elisa, Zanatta, Cinzia, Zani, Augusto, de Beaufort, Cunera M.C., Aminoff, Dalia, de Blaauw, Ivo, Crétolle, Célia, Dingemann, Jens, Durkin, Natalie, Feitz, Wout F.J., Fruithof, JoAnne, Grano, Caterina, Burgos, Carmen Mesas, Schwarzer, Nicole, Slater, Graham, Soyer, Tutku, Violani, Cristiano, Wijnen, Rene, de Coppi, Paolo, and Gorter, Ramon R.

Published
2023
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9. Transitional Care for Patients with Congenital Colorectal Diseases: An EUPSA Network Office, ERNICA, and eUROGEN Joint Venture

Author

de Beaufort, Cunera M.C., primary, Aminoff, Dalia, additional, de Blaauw, Ivo, additional, Crétolle, Célia, additional, Dingemann, Jens, additional, Durkin, Natalie, additional, Feitz, Wout F.J., additional, Fruithof, JoAnne, additional, Grano, Caterina, additional, Burgos, Carmen Mesas, additional, Schwarzer, Nicole, additional, Slater, Graham, additional, Soyer, Tutku, additional, Violani, Cristiano, additional, Wijnen, Rene, additional, de Coppi, Paolo, additional, Gorter, Ramon R., additional, Abbo, Olivier, additional, Angotti, Rossella, additional, Antunovic, Sanja Sindjic, additional, Anzelewicz, Stefan, additional, Arneitz, Christoph, additional, Arnold, Marion, additional, Assi, Zaki, additional, Aydin, Emrah, additional, Ballouhey, Quentin, additional, Barila, Patricia, additional, Basson, Sonia, additional, Besendorfer, Manuel, additional, Di Cesare, Antonio, additional, Dariel, Anne, additional, Dekeryte, Inga, additional, Djordjevic, Ivona, additional, Domenichelli, Vincenzo, additional, Duranteau, Lise, additional, Durakbasa, Cigdem, additional, Ebert, Anne-Karoline, additional, Ellerkamp, Verena, additional, Leon, Francesco Fascetti, additional, Fisch, Margit, additional, Vazquez, Araceli García, additional, Gielok, Christoph, additional, Bahadir, Gulnur Gollu, additional, Haecker, Frank-Martin, additional, Holmdahl, Gundela, additional, Irtan, Sabine, additional, Jones, Ceri, additional, Kakar, Mohit, additional, Keshtgar, Ali, additional, Kvist, Kolja, additional, Laconi, Francesco, additional, Laurance, Marie, additional, Candel, Eduardo Lopez, additional, Ludwiczek, Johanna, additional, Ludwikowski, Barbara, additional, Macchini, Francesco, additional, Malota, Mark, additional, Matthyssens, Lucas, additional, Martin, Benjamin, additional, Martinez, Leopoldo, additional, Midrio, Paola, additional, Miserez, Marc, additional, Mosiello, Giovanni, additional, Pascual, Francisco Murcia, additional, Nunez, Bernardo, additional, Olén, Roger, additional, Öztorun, Can İhsan, additional, Parlak, Ayse, additional, Prato, Alessio Pini, additional, Poupalou, Anna, additional, Arias, Marcos Prada, additional, Prat, Jordi, additional, Gil, Carlos Pueyo, additional, Avila Ramirez, Luis Felipe, additional, Reingruber, Bertram, additional, Riccipetitoni, Giovanna, additional, Riechardt, Silke, additional, Risteski, Toni, additional, Rogula, Wojciech, additional, Rolle, Udo, additional, Romeo, Carmelo, additional, Schäfer, Frank-Mattias, additional, Scirè, Gabriella, additional, Sfeir, Rony, additional, Singer, Georg, additional, Sloots, Pim, additional, Stanton, Michael, additional, Stenström, Pernilla, additional, Stockinger, Maria, additional, Surhan, M., additional, Suominen, Janne, additional, Syed, Julia, additional, Talon, Isabelle, additional, Tanriverdi, Halil Ibrahim, additional, Uzunlu, Osman, additional, Valfre, Laura, additional, Witvliet, Marieke, additional, Zambaiti, Elisa, additional, Zanatta, Cinzia, additional, and Zani, Augusto, additional

Published
2023
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22. SLC20A1 is involved in urinary tract and urorectal development

Author

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Öznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjöld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Rösch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schäfer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Rooij, Iris A. L. M. van, Bökenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, and Reutter, Heiko

Subjects
animal structures, ddc:570, embryonic structures, ddc:610
Abstract

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detected SLC20A1 in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequenced SLC20A1 in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelic de novo variants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novel de novo variant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact of SLC20A1 variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggest SLC20A1 is involved in urinary tract and urorectal development and implicate SLC20A1 as a disease-gene for BEEC.

Published
2020

23. SLC20A1Is Involved in Urinary Tract and Urorectal Development

Author

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, Reutter, Heiko, Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Läckgren, Göran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger, Ludwig, Michael, Schweizer, Ulrich, Woolf, Adrian S., Odermatt, Benjamin, and Reutter, Heiko

Abstract

Previous studies in developingXenopusand zebrafish reported that the phosphate transporterslc20a1ais expressed in pronephric kidneys. The recent identification ofSLC20A1as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role ofSLC20A1in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish orthologslc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detectedSLC20A1in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequencedSLC20A1in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelicde novovariants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novelde novovariant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact ofSLC20A1variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggestSLC20A1is involved in urinary tract and urorectal development and implicateSLC20A1as a disease-gene for BEEC.

Published
2020
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29. SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Author

Rieke, Johanna Magdalena, primary, Zhang, Rong, additional, Braun, Doreen, additional, Yilmaz, Öznur, additional, Japp, Anna S., additional, Lopes, Filipa M., additional, Pleschka, Michael, additional, Hilger, Alina C., additional, Schneider, Sophia, additional, Newman, William G., additional, Beaman, Glenda M., additional, Nordenskjöld, Agneta, additional, Ebert, Anne-Karoline, additional, Promm, Martin, additional, Rösch, Wolfgang H., additional, Stein, Raimund, additional, Hirsch, Karin, additional, Schäfer, Frank-Mattias, additional, Schmiedeke, Eberhard, additional, Boemers, Thomas M., additional, Lacher, Martin, additional, Kluth, Dietrich, additional, Gosemann, Jan-Hendrik, additional, Anderberg, Magnus, additional, Barker, Gillian, additional, Holmdahl, Gundela, additional, Läckgren, Göran, additional, Keene, David, additional, Cervellione, Raimondo M., additional, Giorgio, Elisa, additional, Di Grazia, Massimo, additional, Feitz, Wouter F. J., additional, Marcelis, Carlo L. M., additional, Van Rooij, Iris A. L. M., additional, Bökenkamp, Arend, additional, Beckers, Goedele M. A., additional, Keegan, Catherine E., additional, Sharma, Amit, additional, Dakal, Tikam Chand, additional, Wittler, Lars, additional, Grote, Phillip, additional, Zwink, Nadine, additional, Jenetzky, Ekkehart, additional, Brusco, Alfredo, additional, Thiele, Holger, additional, Ludwig, Michael, additional, Schweizer, Ulrich, additional, Woolf, Adrian S., additional, Odermatt, Benjamin, additional, and Reutter, Heiko, additional

Published
2020
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30. Treatment Strategies and Outcome of the Exstrophy–Epispadias Complex in Germany: Data From the German CURE-Net

Author

Ebert, Anne-Karoline, primary, Zwink, Nadine, additional, Reutter, Heiko M., additional, Jenetzky, Ekkehart, additional, Stein, Raimund, additional, Hölscher, Alice C., additional, Lacher, Martin, additional, Fortmann, Caroline, additional, Obermayr, Florian, additional, Fisch, Margit, additional, Mortazawi, Kiarasch, additional, Schmiedeke, Eberhard, additional, Promm, Martin, additional, Hirsch, Karin, additional, Schäfer, Frank-Mattias, additional, and Rösch, Wolfgang H., additional

Published
2020
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34. Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study

Author

Ebert, Anne-Karoline, Zwink, Nadine, Jenetzky, Ekkehart, Stein, Raimund, Boemers, Thomas M., Lacher, Martin, Fortmann, Caroline, Obermayr, Florian, Fisch, Margit, Mortazawi, Kiarasch, Schmiedeke, Eberhard, Eisenschmidt, Volker, Schaefer, Mattias, Hirsch, Karin, Roesch, Wolfgang H., Reutter, Heiko, Ebert, Anne-Karoline, Zwink, Nadine, Jenetzky, Ekkehart, Stein, Raimund, Boemers, Thomas M., Lacher, Martin, Fortmann, Caroline, Obermayr, Florian, Fisch, Margit, Mortazawi, Kiarasch, Schmiedeke, Eberhard, Eisenschmidt, Volker, Schaefer, Mattias, Hirsch, Karin, Roesch, Wolfgang H., and Reutter, Heiko

Abstract

OBJECTIVE To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients con- genital 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. (C) 2018 Elsevier Inc.

Published
2019

35. Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe

Author

Reutter, Heiko, Boyadjiev, Simeon A., Gambhir, Lisa, Ebert, Anne-Karoline, Rösch, Wolfgang H., Stein, Raimund, Schröder, Annette, Boemers, Thomas M., Bartels, Enrika, Vogt, Hannes, Utsch, Boris, Müller, Martin, Detlefsen, Birte, Zwink, Nadine, Rogenhofer, Sebastian, Gobet, Rita, Beckers, Goedele M.A., Bökenkamp, Arend, Kajbafzadeh, Abdol-Mohammad, Jaureguizar, Enrique, Draaken, Markus, Lakshmanan, Yegappan, Gearhart, John P., Ludwig, Michael, Nöthen, Markus M., and Jenetzky, Ekkehart

Published
2011
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36. Das Wichtigste aus sieben Fachgebieten

Author

Bartsch, Georg, primary, Ebert, Anne-Karoline, additional, Mandel, Philipp, additional, Siener, Roswitha, additional, Mani, Jens, additional, Netsch, Christopher, additional, and Doehn, Christian, additional

Published
2019
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37. Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study

Author

Ebert, Anne-Karoline, primary, Zwink, Nadine, additional, Jenetzky, Ekkehart, additional, Stein, Raimund, additional, Boemers, Thomas M., additional, Lacher, Martin, additional, Fortmann, Caroline, additional, Obermayr, Florian, additional, Fisch, Margit, additional, Mortazawi, Kiarasch, additional, Schmiedeke, Eberhard, additional, Eisenschmidt, Volker, additional, Schäfer, Mattias, additional, Hirsch, Karin, additional, Rösch, Wolfgang H., additional, and Reutter, Heiko, additional

Published
2019
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38. AUTHOR REPLY

Author

Ebert, Anne-Karoline, primary, Zwink, Nadine, additional, and Reutter, Heiko Martin, additional

Published
2019
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40. The Exstrophy-epispadias complex

Author

Reutter Heiko, Ebert Anne-Karoline, Ludwig Michael, and Rösch Wolfgang H

Subjects
Medicine
Abstract

Abstract Exstrophy-epispadias complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC). Depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. Prevalence at birth for the whole spectrum is reported at 1/10,000, ranging from 1/30,000 for CEB to 1/200,000 for EC, with an overall greater proportion of affected males. EEC is characterized by a visible defect of the lower abdominal wall, either with an evaginated bladder plate (CEB), or with an open urethral plate in males or a cleft in females (E). In CE, two exstrophied hemibladders, as well as omphalocele, an imperforate anus and spinal defects, can be seen after birth. EEC results from mechanical disruption or enlargement of the cloacal membrane; the timing of the rupture determines the severity of the malformation. The underlying cause remains unknown: both genetic and environmental factors are likely to play a role in the etiology of EEC. Diagnosis at birth is made on the basis of the clinical presentation but EEC may be detected prenatally by ultrasound from repeated non-visualization of a normally filled fetal bladder. Counseling should be provided to parents but, due to a favorable outcome, termination of the pregnancy is no longer recommended. Management is primarily surgical, with the main aims of obtaining secure abdominal wall closure, achieving urinary continence with preservation of renal function, and, finally, adequate cosmetic and functional genital reconstruction. Several methods for bladder reconstruction with creation of an outlet resistance during the newborn period are favored worldwide. Removal of the bladder template with complete urinary diversion to a rectal reservoir can be an alternative. After reconstructive surgery of the bladder, continence rates of about 80% are expected during childhood. Additional surgery might be needed to optimize bladder storage and emptying function. In cases of final reconstruction failure, urinary diversion should be undertaken. In puberty, genital and reproductive function are important issues. Psychosocial and psychosexual outcome depend on long-term multidisciplinary care to facilitate an adequate quality of life.

Published
2009
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47. CNV analysis in 169 patients with bladder exstrophy-epispadias complex

Author

von Lowtzow, Catharina, primary, Hofmann, Andrea, additional, Zhang, Rong, additional, Marsch, Florian, additional, Ebert, Anne-Karoline, additional, Rösch, Wolfgang, additional, Stein, Raimund, additional, Boemers, Thomas M., additional, Hirsch, Karin, additional, Marcelis, Carlo, additional, Feitz, Wouter F. J., additional, Brusco, Alfredo, additional, Migone, Nicola, additional, Di Grazia, Massimo, additional, Moebus, Susanne, additional, Nöthen, Markus M., additional, Reutter, Heiko, additional, Ludwig, Michael, additional, and Draaken, Markus, additional

Published
2016
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48. Correspondence (letter to the editor): Adjuvant Topical Treatment With Inflammation: Suppressing Medications Should Be Given

Author

Ebert, Anne-Karoline

Subjects
Male, Lichen Sclerosus et Atrophicus, Penile Diseases, Treatment Outcome, Circumcision, Male, Child, Preschool, Correspondence, Infant, Newborn, Humans, Infant, Child
Abstract

Lichen sclerosus (LS) is a sclerosing skin disease. When it appears in boys, it nearly always affects the penis and usually causes phimosis requiring surgical treatment. The clinical significance of this disease in boys is inadequately recognized.The etiology, clinical manifestations, diagnosis, and treatment of LS in boys are presented in the light of a review of selected literature. We also present our own experience with this disease in an ambulatory pediatric surgery practice.LS has long been recognized as a disease of the prepubertal male genitalia (in such cases, the condition is also called "balanitis xerotica obliterans"). It is thought to be the main cause of acquired phimosis, and it can also involve the meatus and urethra as it progresses. Its possible association with squamous cell carcinoma of the penis remains unclear. Its etiology is unknown; its pathophysiological mechanism involves T-lymphocyte-mediated inflammation. The treatment of choice is complete circumcision. There is still controversy regarding the conservative treatment of LS with topical steroids.LS is much more common in boys than is generally assumed. Lichen sclerosus should be suspected in any case of acquired phimosis. Treatment with complete circumcision does not necessarily bring about a definitive cure. Further research on the pathogenesis of this disease is needed.

Published
2011

49. Classic bladder exstrophy : Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

Author

Draaken, Markus, Baudisch, Friederike, Timmermann, Bernd, Kuhl, Heiner, Kerick, Martin, Proske, Judith, Wittler, Lars, Pennimpede, Tracie, Ebert, Anne-Karoline, Rösch, Wolfgang, Stein, Raimund, Bartels, Enrika, von Lowtzow, Catharina, Boemers, Thomas M, Herms, Stefan, Gearhart, John P, Lakshmanan, Yegappan, Kockum, Christina Clementsson, Holmdahl, Gundela, Läckgren, Göran, Nordenskjöld, Agnetha, Boyadjiev, Simeon A, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko, Draaken, Markus, Baudisch, Friederike, Timmermann, Bernd, Kuhl, Heiner, Kerick, Martin, Proske, Judith, Wittler, Lars, Pennimpede, Tracie, Ebert, Anne-Karoline, Rösch, Wolfgang, Stein, Raimund, Bartels, Enrika, von Lowtzow, Catharina, Boemers, Thomas M, Herms, Stefan, Gearhart, John P, Lakshmanan, Yegappan, Kockum, Christina Clementsson, Holmdahl, Gundela, Läckgren, Göran, Nordenskjöld, Agnetha, Boyadjiev, Simeon A, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, and Reutter, Heiko

Abstract

BACKGROUND: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. METHODS: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. RESULTS: New duplications of variable size were identified in four CBE patients and one control. Pooling of our previous and present data (eight duplications in 313 CBE patients) yielded a combined odds ratio of 31.86 (95% confidence interval, 4.24-1407.97). Array-based sequence capture and high-throughput targeted re-sequencing established that all breakpoints resided within the low-copy repeats 22A to 22D. Comparison of the eight duplications revealed a 414 kb phenocritical region harboring 12 validated RefSeq genes. Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes. CONCLUSION: Our data suggest that duplication of 22q11.21 increases CBE risk and implicate a phenocritical region in disease formation.

Published
2014
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50. Morphological and Functional Hip Long-Term Results after Exstrophy Repair.

Author

Kertai, Michael Amir, Rösch, Wolfgang H., Brandl, Roland, Hirschfelder, Horst, Zwink, Nadine, and Ebert, Anne Karoline

Subjects
CLOACAL exstrophy, HIP joint diseases, RADIOLOGY, CROSS-sectional method, HIP joint, DIAGNOSIS, ANATOMY
Abstract

Introduction Abnormalities of the bony pelvis in exstrophy-epispadias complex (EEC) and their possible relation to hip disease are well described. However, there is a lack of information about long-term orthopedic consequences and hip function in patients with EEC. Therefore, we investigated clinical and radiological results in an EEC patient cohort after long-term follow-up. Patients and Methods We conducted a cross-sectional study using standardized radiography, clinical investigation, and the Harris hip score. Seventeen postpuberty consecutive unselected EEC patients (3 female, 14 male; mean age 18.2 years) that presented to our clinic due to urological procedures or routine check-up from 2010 to 2011 were included. All had undergone symphysis approximation with a traction bandage without osteotomy in early childhood. Radiological analysis was conducted offline by two independent investigators. Results Radiological analysis showed a mean pubic diastasis of 5.1 cm (range 2.8-8.5 cm). Borderline hip dysplasia was present in four patients, one of them having had co-occurring developmental hip dysplasia in previous history. No severe dysplasia, subluxation, or luxation of the hip was found; however, one patient showed early hip arthrosis. Clinical examination revealed no relevant restriction of range of motion, although rotation and abduction were slightly altered in five patients. None of the EEC patients complained about pain or restriction in sports or daily activities. Harris hip score was perfect for all but one study participants. Conclusion Despite EEC-specific hip morphology, long-term hip function is not impaired in patients after symphyseal approximation without osteotomy in the newborn period. The symphysis diastasis after this procedure is comparable to available postosteotomy data. The large majority of EEC patients did not show dysplastic or degenerative hip disease. Functional hip score results confirmed reasonable age-related hip function in nearly all examined patients. However, postnatal ultrasound hip screening is recommended to prevent and adequately treat potential co-occurring developmental hip dysplasia. [ABSTRACT FROM AUTHOR]

Published
2016
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