Anne-Karoline Ebert

Universität Ulm, Ulm, Baden-Württemberg, Germany

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Publications (23)56.84 Total impact

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    ABSTRACT: The bladder exstrophy-epispadias complex (BEEC) comprises a spectrum of congenital anomalies that represents the severe end of urorectal malformations, and has a profound impact on continence as well as sexual and renal functions. The relation between severity of BEEC and its associated functional impairments, on one hand, and the resulting restrictions in quality of life and potential psychopathology determine the patients' outcome. It is important for improving further outcome to identify BEEC-related sources of distress in the long term. Genital function and sexuality becomes an important issue for adolescent and adult BEEC individuals. Hence, the present study focused on sexual function and psychological adaption in patients with BEEC. In a multicenter study 52 patients (13 females, 39 males) with classic bladder exstrophy (BE) with their bladders in use were assessed by a self-developed questionnaire about sexual function, and psychosexual and psychosocial outcome. The patients were born between 1948 and 1994 (median age 31 years). Twelve of 13 (92%) females and 25 of 39 (64%) males with classic BE had answered the questions on sexual function. Of these, 50% females and 92% males answered that they masturbated. Females had sexual intercourse more frequently. Six (50%) females affirmed dyspareunia whereas only two (8%) males reported pain during erection. Eight (67%) females specified having orgasms. Eighteen (72%) males were able to ejaculate. Two males and none of the females lived in a committed partnership (Figure). Two (15%) females and 13 (33%) males answered all psychosocial questions. The majority of these patients had concerns about satisfactory sexuality and lasting, happy partnerships. A minority of patients of both sexes were willing to answer psychosocial questions. Sexual activity and relationships of many adult BE patients seems to be impaired. Not surprisingly, sexual activity and awareness were different in males and females even in a multi-organ anomaly. To date, one of the main goals of the medical treatment of BEEC/BE patients is to enable normal sexual life and fertility. However, only a few outcome studies have focused on these issues with contradicting results, most of them not using standardized outcome measures. In accordance with other studies, our female BE patients have dyspareunia and most of our male BE patients were able to ejaculate. But the question of normal force of ejaculation, ejaculated volume, or semen analysis remains unanswered. Despite partial confirmation of previous findings, there is inconsistency referring to the outcome measured by the available studies. This might in part be explained by the fact that, other than this study, most previous studies are the result of single-institution experience. Thus, selection bias in the patient sampling due to different a clinical collective in different hospitals may be the consequence. Furthermore, patients' honesty and self-reflection in answering difficult questions regarding their sexual and cosmetic impairments is questionable. In addition, studies include a wide range of age groups and are connected with this life period. Fears and condition-specific anxieties might change over time. Hence, the strengths of this study are the nationwide and treating physician-independent data acquisition as well as the large sample size of adult patients with a very rare congenital malformation. Unfortunately, more detailed analyses on sexual function and current psychosocial situation, for example correlation of data with clinical symptoms such as continence status, was not possible as data were mainly not answered by patients. To improve the quality of life of patients with BEEC/BE, treatment and follow-up should emphasize physical but also psychological care in these patients. Physicians should further re-evaluate their preconceptions and should take care of the patients throughout their lives. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
    No preview · Article · Mar 2015 · Journal of Pediatric Urology
  • Anne-Karoline Ebert · Wolfgang Rösch
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    ABSTRACT: A recent study has reported a novel approach to primary bladder exstrophy closure without osteotomy in newborns. In this study, most patients were managed on a paediatric urology ward with an epidural catheter, with similar outcomes to patients treated in an intensive care unit with ventilation and muscle relaxation.
    No preview · Article · Oct 2013 · Nature Reviews Urology
  • Peter C Rubenwolf · Anne-Karoline Ebert · Petra Ruemmele · Wolfgang H Rösch
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    ABSTRACT: We report 4 patients with upper urinary tract (UUT) obstruction requiring ureteric reimplantation at 1, 7, 28, and 63 months after dextranomer/hyaluronic acid copolymer (Dx/HA) injection for vesicoureteric reflux. Histopathologic evaluation of ureteric segments revealed extensive foreign body formation in all cases. We conclude that UUT obstruction is a rare but serious complication after Dx/HA injection that can occur even years after surgery. The incidence of delayed-onset UUT obstruction may be higher than previously noted. Long-term follow-up and a critical reappraisal of the method are needed to assess the late sequelae of Dx/HA injection therapy for vesicoureteric reflux.
    No preview · Article · Mar 2013 · Urology
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    ABSTRACT: Background: The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. Methods: Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutations involving small sequence changes. Results: A de novo 0.9 Mb microduplication involving chromosomal region 19p13.12 was identified in a single patient. This region harbors 20 validated RefSeq genes, and in situ hybridization data showed specific expression of the Wiz gene in regions surrounding the cloaca and the rectum between GD 9.5 and 13.5. Sanger sequencing of the complete cohort did not reveal any pathogenic alterations affecting the coding region of WIZ. Conclusions: The present study suggests chromosomal region 19p13.12 as possibly involved in the development of CBE, but further studies are needed to prove a causal relation. The spatiotemporal expression patterns determined for the genes encompassed suggest a role for Wiz in the development of the phenotype. Our mutation screening, however, could not confirm that WIZ mutations are a frequent cause of CBE, although rare mutations might be detectable in larger patient samples. 19p13.12, microduplication, bladder exstrophy-epispadias complex, array-based molecular karyotyping, in situ hybridization analysis, copy number variations, WIZ gene.
    No preview · Article · Mar 2013 · Birth Defects Research Part A Clinical and Molecular Teratology
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    ABSTRACT: Purpose: We assessed the risk of exstrophy-epispadias complex in children conceived by in vitro fertilization or intracytoplasmic sperm injection. Materials and methods: Data from the German Network for Congenital Uro-REctal malformations were compared to nationwide data from the German In Vitro Fertilization Register and the German Federal Statistical Office. Odds ratios (95% CI) were determined to quantify associations using logistic regression. Results: A total of 123 patients with exstrophy-epispadias complex born in Germany between 1997 and 2011 were recruited through participating departments of pediatric urology and pediatric surgery throughout the country as well as the German self-help organizations Blasenekstrophie/Epispadie e.V. and Kloakenekstrophie. All German live births (10,069,986) between 1997 and 2010 comprised the controls. Overall, 12 subjects (10%) and 129,982 controls (1%) were conceived by in vitro fertilization or intracytoplasmic sperm injection. Conception by assisted reproductive technique was associated with a more than eightfold increased risk of exstrophy-epispadias complex compared to spontaneous conception (OR 8.3, 95% CI 4.6-15.0, p <0.001). Separate analyses showed a significantly increased risk of exstrophy-epispadias complex in children conceived by in vitro fertilization (OR 14.0, 95% CI 6.5-30.0, p <0.0001) or intracytoplasmic sperm injection (OR 5.3, 95% CI 2.2-12.9, p <0.0001). Conclusions: This study provides evidence that assisted reproductive techniques such as in vitro fertilization and intracytoplasmic sperm injection are associated with a markedly increased risk of having a child born with exstrophy-epispadias complex. However, it remains unclear whether this finding may be due to assisted reproduction per se and/or underlying infertility/subfertility etiology or parent characteristics.
    No preview · Article · Nov 2012 · The Journal of urology
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    ABSTRACT: Purpose: We investigated bladder biopsies from patients with classic bladder exstrophy for the histological features and discuss the potential clinical significance of the findings. Materials and methods: Bladder tissues were collected from patients with bladder exstrophy between 2004 and 2011. These specimens were obtained at primary bladder closure (group 1, 29 patients), during secondary reconstructive procedures (group 2, 27) or during cystectomy for failed reconstruction (group 3, 15). All tissue specimens were investigated for inflammatory, proliferative, metaplastic and dysplastic changes. Expression of urothelial differentiation markers CK13 and CK20 was determined by immunohistochemical analysis. Results: Inflammatory, proliferative and metaplastic changes were found in bladder specimens of all subgroups. Neither dysplasia nor neoplasia was present. Severe epithelial changes such as cystitis glandularis and intestinal metaplasia were observed in up to 62% of bladders several years after primary closure. Aberrant expression patterns of CK13 and CK20 suggesting abnormal urothelial differentiation were shown to be present in the urothelium of all subgroups. Conclusions: Our findings provide prima facie evidence that the epithelial changes observed in the unclosed bladder template persist or even progress in a subset of bladders after primary closure. Although the malignant potential of cystitis glandularis and intestinal metaplasia is controversial, some patients may be at increased risk for dysplasia/neoplasia in the long term. Since the natural history of these lesions in the exstrophic bladder is unknown, these patients require lifelong surveillance.
    No preview · Article · Sep 2012 · The Journal of urology
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    ABSTRACT: Epispadias is the mildest phenotype of the human bladder exstrophy-epispadias complex (BEEC), and presents with varying degrees of severity. This urogenital birth defect results from a disturbance in the septation process, during which separate urogenital and anorectal components are formed through division of the cloaca. This process is reported to be influenced by androgen signaling. The human PARM1 gene encodes the prostate androgen-regulated mucin-like protein 1, which is expressed in heart, kidney, and placenta. We performed whole mount in situ hybridization analysis of Parm1 expression in mouse embryos between gestational days (GD) 9.5 and 12.5, which are equivalent to human gestational weeks 4-6. Since the spatio-temporal localization of Parm1 corresponded to tissues which are affected in human epispadias, we sequenced PARM1 in 24 affected patients. We found Parm1 specifically expressed in the region of the developing cloaca, the umbilical cord, bladder anlage, and the urethral component of the genital tubercle. Additionally, Parm1 expression was detected in the muscle progenitor cells of the somites and head mesenchyme. PARM1 gene analysis revealed no alterations in the coding region of any of the investigated patients. These findings suggest that PARM1 does not play a major role in the development of human epispadias. However, we cannot rule out the possibility that a larger sample size would enable detection of rare mutations in this gene.
    No preview · Article · Jul 2012 · Gene
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    ABSTRACT: We characterize the urothelium from patients with classic bladder exstrophy-epispadias complex for the expression of proteins associated with urothelial differentiation, and discuss a potential impact of urothelial phenotype on the structural and functional properties of the bladder template following bladder closure. From 2005 to 2010 bladder biopsies from 32 infants with bladder exstrophy-epispadias complex obtained at primary bladder closure were collected. After histological assessment immunochemistry was used to investigate the expression of uroplakin IIIa, cytokeratin differentiation restricted antigens CK13 and CK20, and tight junction protein claudin 4. Overall tissue morphology showed gross alterations with inflammatory, proliferative and metaplastic changes in most specimens. Sections of intact epithelium were present in 78% of biopsies. With respect to urothelial phenotype, CK13 was expressed in all specimens, whereas UPIIIa and CK20 were absent in 76% of the tissues examined. Of the biopsies 52% revealed an irregular expression pattern of tight junction protein Cl-4. This is the first study to our knowledge to characterize the urothelium from infants with bladder exstrophy-epispadias complex for the expression of urothelial differentiation associated antigens. Our findings suggest urothelial differentiation changes in a majority of exstrophic bladders, at least at primary bladder closure. Although the underlying etiology remains to be established, abnormal urothelial differentiation may result in a dysfunctional urothelial barrier with implications for the structural and functional properties of the bladder template. Despite the study limitations, our preliminary findings provide a platform for further investigation of the significance of the urothelium for the exstrophic bladder.
    No preview · Article · Mar 2012 · The Journal of urology
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    Anne-Karoline Ebert

    Preview · Article · Oct 2011 · Deutsches Ärzteblatt International
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    ABSTRACT: To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were compared with identify factors that contribute to phenotype severity. Males were overrepresented in all subgroups. A relatively high prevalence of cleft lip, with or without cleft palate, was observed. Maternal smoking and medical radiation during the first trimester were associated with the severe cloacal exstrophy phenotype. Compliance with periconceptional folic acid supplementation was associated with the mildest phenotype (epispadias). Periconceptional folic acid supplementation appears to prevent the development of the severe phenotype of BEEC.
    Full-text · Article · Jun 2011 · The Journal of pediatrics
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    ABSTRACT: The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplification (MLPA) analysis was performed with an MLPA 22q11 kit in a further 50 non-syndromic EEC cases. We identified one CBE patient with an overlapping 22q11.21 duplication in whom the duplication had been transmitted from the unaffected mother. Chromosomal region 22q11 is well known for its susceptibility to genomic rearrangements, and these are associated with various syndromes including the velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), the der(22) syndrome, and the cat-eye syndrome. Duplications in this region result in a wide and variable spectrum of clinical presentations that include features of the VCFS/DGS, while some carriers present with a completely normal phenotype. Our findings extend the phenotypic spectrum of the 22q11.2 duplication syndrome, and indicate that this aberration predisposes to CBE with incomplete penetrance.
    No preview · Article · Apr 2010 · European journal of medical genetics
  • Wolfgang Roesch · Simone Bertz · Anne-Karoline Ebert · Ferdinand Hofstaedter

    No preview · Article · Apr 2010 · Journal of Pediatric Urology
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    Anne-Karoline Ebert · Heiko Reutter · Michael Ludwig · Wolfgang H Rösch
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    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.
    Full-text · Article · Oct 2009 · Orphanet Journal of Rare Diseases

  • No preview · Article · Apr 2009 · Journal of Pediatric Urology

  • No preview · Article · Nov 2007 · American Journal of Medical Genetics Part A

  • No preview · Article · Nov 2006 · American Journal of Medical Genetics Part A
  • W. H. Rösch · A. Ebert · G. Schott
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    ABSTRACT: Ohne Zusammenfassung
    No preview · Article · Sep 2006 · Der Urologe
  • A Ebert · S Scheuering · G Schott · W.H. ROESCH
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    ABSTRACT: We report the psychosocial and psychosexual development of children and adolescents with the exstrophy-epispadias complex (EEC) after complete functional repair using the Erlangen single stage technique. In a long-term retrospective followup of an average of 11.1 years 100 patients with EEC (76 boys and 24 girls, mean age 14.5 years) were evaluated with respect to medical history, and received a general questionnaire concerning their social and psychosocial situation. A total of 54 patients who were 15 years or older (mean age 18.5) received an additional questionnaire to assess detailed sexual history. Of the patients 81% returned the general questionnaire within 3 weeks. School education level and social integration were high. In about 25% of the patients impairment of daily life was significant, and in 58.7% peer relations were altered. Of the adolescent group 76% answered the special questionnaire. Genital satisfaction and genital touching were rated low, and avoidance of nudity in public areas was common. All patients expressed heterosexuality and 43.9% had engaged in sexual intercourse but 58.5% displayed anxiety about sexual activity. It is noteworthy that 93.9% expressed an interest in psychological assistance. Despite a high degree of social integration and adult adaptation, children and adolescents with EEC suffer from psychosocial and psychosexual dysfunction requiring special questionnaires for adequate assessment. Anxiety about genital appearance and sexual activity is a common phenomenon among adolescents with EEC, even when they present with nearly "normal" genitalia and participate with satisfaction in sexual activity. Further studies are needed to understand the exstrophy problem and supply all patients with EEC with the individual care they need.
    No preview · Article · Oct 2005 · The Journal of Urology
  • A Ebert · C Gravou · M Stümpfl · W H Rösch
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    ABSTRACT: Renal cell carcinoma (RCC) in childhood is rare and its incidence is estimated to be 3-6% of all kidney cancers in childhood. Thus, clinical experience with renal cell carcinoma in this age group is meager and no consensus between pediatric urologists and pediatric oncologists exists on common treatment strategies. Furthermore, most previous reports included postpubertal patients in whom the biological behavior of the RCC and treatment options are the same as in adults. Based on the literature and a clinical case report of a 12-year-old boy suffering from a papillary renal cell carcinoma stage IV (pT2 N2 MO), the relevance of the biological behavior of different histological subtypes and their treatment options are reviewed and discussed. In adulthood lymph node dissection is still controversial, but in children it seems to have a positive effect on survival. Immunotherapy in childhood is still and experimental option and just a few cases are reported in the literature.
    No preview · Article · Mar 2003 · Der Urologe
  • A. Ebert · C. Gravou · M. Stümpfl · W. Rösch
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    ABSTRACT: Zusammenfassung Das Nierenzellkarzinom im Kindesalter zählt mit einem Anteil von 3–6% zu den Raritäten der kindlichen Nierentumoren. Nicht zuletzt bedingt durch diese Seltenheit sind die Erfahrungen mit dem Nierenzellkarzinom in dieser Altersgruppe sehr beschränkt, und es existieren bislang noch keine von Kinderurologen und Pädiatrischen Onkologen gemeinsam akzeptierten Behandlungsprotokolle. Häufig schließen die vorliegenden Erfahrungsberichte postpubertäre Patienten ein, die im Hinblick auf Tumorverhalten und Therapieoptionen weitgehend dem Erwachsenenalter entsprechen. Anhand der aktuellen Literatur und eines eigenen 12-jährigen Patienten mit einem papillären Nierenzellkarzinom Stadium IV (pT2 N2 MO) sollen Häufigkeit und biologisches Verhalten unterschiedlicher histologischer Typen aufgezeigt und die daraus resultierenden Therapiemöglichkeiten diskutiert werden. Während der Nutzen der regionären Lymphdissektion im Erwachsenenalter umstritten ist, scheint sie im Kindesalter insbesondere bei positiven Lymphknoten die Prognose günstig zu beeinflussen. Die Immuntherapie hat dagegen im Kindesalter experimentellen Charakter und blieb bislang international auf wenige Einzelfälle beschränkt.
    No preview · Article · Feb 2003 · Der Urologe

Publication Stats

250 Citations
56.84 Total Impact Points


  • 2013-2015
    • Universität Ulm
      Ulm, Baden-Württemberg, Germany
    • University Hospital Regensburg
      Ratisbon, Bavaria, Germany
  • 2006-2013
    • Krankenhaus Barmherzige Brüder Regensburg
      Ratisbon, Bavaria, Germany
  • 2005-2012
    • Universität Regensburg
      • Department of Urology
      Ratisbon, Bavaria, Germany
  • 2007
    • Hospital of St. Hedwig
      Trebnitz, Lower Silesian Voivodeship, Poland
  • 2000
    • Friedrich-Alexander Universität Erlangen-Nürnberg
      • Department of Urology
      Erlangen, Bavaria, Germany