Nicole Schwarzer

Universität Heidelberg, Heidelburg, Baden-Württemberg, Germany

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Publications (8)11.35 Total impact

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    ABSTRACT: 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. 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. 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. 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.
    Journal of Pediatric Surgery 12/2013; 48(12):2530-5. · 1.38 Impact Factor
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    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 < 0.0001) as well as after ICSI (OR, 7.5; 95% CI, 4.6--12.2; P < 0.0001). Furthermore, separate analyses of patients with isolated ARM, ARM with associated anomalies and those with a VATER/VACTERL association showed strong associations with ART (ORs 4.9, 11.9 and 7.9, respectively). After stratification for plurality of birth, the corresponding odds ratios (95% confidence intervals) were 7.7 (4.6--12.7) for singletons and 4.9 (2.4--10.1) for multiple births. 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.
    Orphanet Journal of Rare Diseases 09/2012; 7(1):65. · 4.32 Impact Factor
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    ABSTRACT: To determine the anorectal function in patients with anorectal malformations (ARM) in order to facilitate patient counseling and follow-up. Data were collected by the German network for urorectal malformations (CURE-Net) according to the International Krickenbeck consensus. Questionnaires on bowel function and a defecation protocol were completed by the families/patients. The clinical findings were assessed from the patients' clinical records. Two hundred and ninety-seven patients with ARM were assessed, 175 patients gave complete data on continence, 52 of them were excluded due to mental retardation, age, and earlier type of pullthrough. Complete continence was found in 27 %, perineal fistula in 40 %, rectourethral/vesical in 10 %, vestibular in 24 %, cloaca in 0 %. Krickenbeck grade 1 soiling: 42 %, grade 2 and 3: 31 %. Forty-nine percent of the incontinent patients practiced bowel management, reaching continence in 19 %. The statement of constipation (67 %) was validated with the last clinical findings, showing coprostasis in 46 %, "Not suffering constipation" was confirmed in 61 % and falsified in 29 %. ARM patients in Germany, as assessed by independent researchers, show a high rate of fecal incontinence and insufficiently treated constipation. Parents should be counseled accordingly and motivated to engage in consequent follow-up. Intensified efforts in the conservative treatment of constipation and fecal incontinence are crucial to improvement.
    Pediatric Surgery International 07/2012; 28(8):825-30. · 1.22 Impact Factor
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    ABSTRACT: BACKGROUND: In order to prevent stricture of the neoanus after surgical correction, regular dilatation is recommended. There is a lack of knowledge about the performance of anal dilatation and the occurrence of pain. The aim of our investigation was to describe the practice of dilatation and to identify possible risk factors for painful procedures. METHODS: Congenital Uro-Rectal Malformations Network is a German interdisciplinary multicenter research network. With standard questionnaires, physicians interviewed 243 patients and/or their parents at home, additional 103 patients born since 2009 were assessed through their treating physicians. RESULTS: In total, 88 % of the patients received dilatations. Treatment lasted for 7 months in median (range 1-156 months), until the age of 13 months (range 1-171 months). In 69 % painful dilatation was reported; without a significant differences in age or gender. In 32 % bleeding was reported. In 30 % at least one dilatation was performed under general anesthesia. In 11 % some kind of analgesia was used. Type of fistula, dilatations lasting longer than 10 months and Hegar size above 15 were relevant factors for experience of pain. There were about 16 % postoperative strictures of the neoanus, without reported differences in dilatation procedures; but there was a relation to type of malformation. CONCLUSION: Considering the high number of painful treatments, predictors for painful dilatations should be further clarified through standardized documentation and prospective evaluation in order to improve follow-up.
    Pediatric Surgery International 01/2012; · 1.22 Impact Factor
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    ABSTRACT: The aim of the German Network for Congenital Uro-REctal Malformations is to collect data of affected patients with anorectal malformation (ARM) or extrophy-epispadias complex, and to investigate molecular causes, clinical implications, and psychosocial outcome. The current issue was to assess the postoperative sequelae related to lower urinary tract dysfunction in patients with ARM. Two hundred and sixty-seven patients with ARM (112 females, 155 males, median age 6 years, range 0-56 years) were investigated via standardized case report forms comprising interview, analysis of medical data, and personal questionnaires. Thirty-two patients (12%, 23 males, 9 females) suffered from neurogenic bladder dysfunction, mainly associated with recto-urethral fistula (11 cases, 34%), and recto-vesical fistula (6 cases, 19%). Sixty-eight patients (26%, 35 males, 57 females) have experienced lifetime urinary tract infection, primarily associated with recto-urethral fistula (21 cases, 31%), and vestibular fistula (13 cases, 19%). According to type of operation, the highest number of postoperative urologic problems was reported after abdominosacroperineal pull-through. Besides reconstructing the ARM, another main goal is the preservation of lower urinary tract function. In our data, there seems to be a close correlation between operative strategies and postoperative complications.
    Pediatric Surgery International 07/2011; 27(10):1085-9. · 1.22 Impact Factor
  • Zeitschrift für Geburtshilfe und Neonatologie 02/2010; 214(01). · 0.56 Impact Factor
  • E Jenetzky, N Schwarzer
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    ABSTRACT: Using the German self-help organization for people with anorectal malformations (SoMA e.V.) as an example, the aim is to illustrate the particular importance of selfhelp groups for rare diseases. First, the structure and work of the German support and advocacy organization are explained by means of a case study. The special benefit for people affected with a rare disease and their relatives, but also for medical practitioners and health insurance funds are highlighted. Synergetic effects by integrating networks are presented. Meanwhile and thanks to globalization and internet, 13 national self-help groups for anorectal malformations and related continence problems are currently in touch. Even today, the fields of activity and the mutual support in coping with the handicap are frequently underestimated. Professional self-help aims to be respected as an equal partner in interdisciplinary health care systems.
    Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz 06/2008; 51(5):529-38. · 0.72 Impact Factor
  • E. Jenetzky, N. Schwarzer
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    ABSTRACT: Am Beispiel der Selbsthilfeorganisation für Menschen mit Anorektalfehlbildungen (SoMA e.V.) wird die besondere Bedeutung von Selbsthilfegruppen bei seltenen Erkrankungen erläutert. Beginnend mit einem Fallbeispiel werden der Aufbau und die Arbeit der deutschen Patientenvertretung dargestellt. Der besondere Nutzen für Patienten mit seltenen Erkrankungen und deren Angehörige, aber auch für Behandelnde und Kostenträger, wird herausgestellt, und es werden Synergieeffekte durch Netzwerkbildung in allen Bereichen dargelegt. Über das Internet stehen inzwischen 13 nationale Selbsthilfegruppen zu diesen Fehlbildungen miteinander in Kontakt. Die Bedeutung der Lücken füllenden Aufgaben der Selbsthilfe und die gegenseitige Unterstützung bei der Bewältigung der Behinderung werden oft noch unterschätzt. Professionelle Selbsthilfe möchte als gleichberechtigter Partner im interdisziplinären Versorgungssystem verstanden werden.
    Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz 01/2008; 51(5). · 0.72 Impact Factor