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  • 1
    Keywords: FOLLOW-UP ; DISEASE ; ADOLESCENTS
    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.
    Type of Publication: Journal article published
    PubMed ID: 23001134
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  • 2
    Keywords: ANORECTAL-MALFORMATIONS ; MULTIDISCIPLINARY BEHAVIORAL TREATMENT
    Abstract: BACKGROUND: Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process. METHODS: Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted. RESULTS: European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe. CONCLUSIONS: Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process.
    Type of Publication: Journal article published
    PubMed ID: 26210660
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  • 3
    Keywords: DISEASE ; CARE ; QUALITY-OF-LIFE
    Abstract: PURPOSE: The aim of the German Network for Congenital Uro-REctal malformations (CURE-Net) is to collect data of affected patients with anorectal malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine the transition to adulthood in adults with ARM and to explore condition-related needs and skills required. METHODS: This qualitative study is part of a larger multi-center study of clinical queries and quality of life in patients with ARM. The guided interview focused on the analysis of medical data and personal questionnaires. RESULTS: Interviews were completed with 55 (23 females, 32 males) participants, age ranging from 18 to 56 years. Twenty-one patients suffered from mucosal prolapse, 18 patients had had megasigmoid/megacolon. Relevant stenosis of the neo-anus occurred in 13 (42 %) males and 4 (18 %) females, permanent neurogenic bladder dysfunction in 10 (32 %) males and 4 (18 %) females, recurrent urinary tract infections in 10 (32 %) males and 13 (59 %) females, latex allergy in 10 (32 %) males and 7 (32 %) females. Thirty-seven (70 %) patients had to be reoperated. Forty-one (75 %) patients needed means of aftercare to achieve social continence. CONCLUSION: The study wants to contribute to a better understanding of the challenges of transition for adults with ARM.
    Type of Publication: Journal article published
    PubMed ID: 22772590
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  • 4
    Keywords: OUTCOMES ; CHILDREN ; QUALITY-OF-LIFE ; IMPERFORATE ANUS ; POSTERIOR SAGITTAL ANORECTOPLASTY ; BOWEL MANAGEMENT ; SACRAL RATIO ; MALFORMATIONS
    Abstract: PURPOSE: To determine the anorectal function in patients with anorectal malformations (ARM) in order to facilitate patient counseling and follow-up. METHODS: 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. RESULTS: 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 %. CONCLUSION: 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.
    Type of Publication: Journal article published
    PubMed ID: 22821084
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  • 5
    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 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.
    Type of Publication: Journal article published
    PubMed ID: 20730541
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  • 6
    Keywords: VARIANTS ; CHILDREN ; IMPERFORATE ANUS ; Anorectal malformation ; Cure-Net ; Neurogenic bladder dysfunction ; Postoperative complication ; Urinary tract dysfunction
    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
    Type of Publication: Journal article published
    PubMed ID: 21792651
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  • 7
    Keywords: ANOMALIES ; CHILDREN ; QUALITY-OF-LIFE ; quality of life ; ADULT PATIENTS ; ADJUSTMENT ; adaptation ; SPECTRUM ; ADOLESCENTS ; HIRSCHSPRUNGS-DISEASE ; Anorectal malformation ; CONGENITAL ANORECTAL-MALFORMATIONS ; Stress and coping ; TERM ; VACTERL ; VACTERL-ASSOCIATION ; VATER
    Abstract: Following a recent classification of the VATER Association provided by the CURE-Net consortium (submitted), we investigate medical predictors of psychological stress and anxieties in this particular condition. We developed a new set of questionnaires measuring psychological adjustment and quality of life outcome in conditions associated with anorectal and/or urogenital malformation (one self- report form to be completed by patients 7-17 years of age, two parent report forms with one relating to patients with an age range of 0-6 years, resp. 7-17 years of age). The questionnaire "Malformation-related Stress and Anxieties" comprises 26 items belonging to five subscales (I. Functional and cosmetic impairment, II. Intimacy and relationship, III. Social inclusion, IV. Psychological functioning, V. Family functioning). Every item can be responded to with respect to both actual, present problems already experienced as well as to future anxieties anticipating future development and adjustment (a perspective which especially applies in younger patients). Internal consistencies of the scales are good, resp. very good (Cronbach's alpha = .85 concerning present sources of anxiety scale, resp., .94 concerning future anxieties scale). The items are supplied with a Likert-type 5-point scale. We administered the questionnaire in N = 17 children and adolescents suffering from VATER via parental (proxy) report. As most medical risk factors affected nearly the entire sample, statistical analysis excluded investigation of differential impact on psychological stress experience and anxieties in subjects exposed versus not exposed. Special attention, therefore, was paid to those medical parameters with the best statistical power to differentiate between individuals of high versus low psychological outcome. Medical predictors differentiating between individuals with high versus low adjustment comprise post-operative infections of the urinary tract (t[15] = -3.78, p = .09), wound infections (t[15] = -3.04, p 〈 .01), stoma complications (t[15] = -2.11, p = .08) (e.g., prolapsed (t[13] = -2.37, p = .05), other treatment complications (t[15] = -2.59, p 〈 .05) and presence of a megacolon (t[13] = -2.44, p = .06). From the perspective of stress psychology, the findings may indicate that particular medical characteristics of a malformation may operate via two different pathways: (a) pathway of severity of a particular medical risk factor: the presence of a megacolon, for example, may restrict quality of life and successful adjustment via multiple and long term functional impairments associated and (b) pathway of subjective predictability and controllability of treatment course. In accordance with theoretical models from stress psychology, the psychological impact of complicating factors such as wound-healing infections is not operating via severity of impairment, but via implicit messages they convey, indicating a low predictability and controllability of course of disease and treatment. As a result, they may increase intensity of worry and anxieties upon further difficulties still to come during future development. As a conclusion, psychological counseling may not only address concrete functional impairments and stressors, but also basic feelings of insecurity, controllability and self-efficacy
    Type of Publication: Journal article published
    PubMed ID: 21789667
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  • 8
    Keywords: SPECTRUM ; DEFINITION ; VACTERL-ASSOCIATION ; VATER ASSOCIATION
    Abstract: VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal atresia, renal abnormalities, and limb defects. Recently, Solomon et al. (Hum Genet 127:731-733, 2010) observed an increased prevalence of component features among first-degree relatives of VATER/VACTERL patients suggesting that in some patients, the disorder may be inherited. To replicate these findings, we investigated 87 VATER/VACTERL patients with the presence of a minimum of three component features and their first-degree relatives (n = 271). No increase in the overall prevalence of component features was observed in first-degree relatives compared to the general population (chi(2) = 2.68, p = 0.10). Separate analysis for the prevalence of single component features showed a higher prevalence of tracheoesophageal fistula/atresia among first-degree relatives compared to the general population (OR 17.65, 95 % CI 2.47-126.05). However, this was based on occurrence in one family only. Our findings suggest that although familial occurrence renders a genetic contribution likely, the overall risk of recurrence among the first-degree relatives of patients with VATER/VACTERL association is probably very low. Since the patients in the present study were young and no offspring could be studied, estimation of the role of de novo mutations in the development of VATER/VACTERL was not possible.
    Type of Publication: Journal article published
    PubMed ID: 22581124
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  • 9
    Abstract: PURPOSE: The aim of the German Network for Congenital Uro-REctal Malformations (CURE-Net) is to collect data of affected patients with anorectal malformation (ARM) to investigate molecular causes, clinical implications and psychosocial outcome. The current issue was to examine sexual function and to explore psychosocial adaptation in adults with ARM. METHODS: This qualitative study using narrative inquiry is part of a larger multi-center study of clinical queries and quality of life in patients with ARM. The guided interview focused on analysis of sexual function. RESULTS: 55 adult patients with ARM (23 females, 32 males, median age 23 years, range from 18 to 56 years) were investigated via standardized case-report forms comprising interview, analysis of medical data and personal questionnaires. In the female patients, 8 (35 %) of them lived alone and 15 (65 %) had sexual intercourse. In the male patients, the majority of 20 (69 %) patients lived alone and 13 (45 %) had sexual intercourse. 6 of the females got pregnant, 5 got 2 or more children. 3 of the men induced 2 or more pregnancies and fathered children. CONCLUSION: Besides reconstructing the ARM, another main goal is the preservation of sexual function. According to our data, there seems to be a close relationship between psychosocial development and sexual activity.
    Type of Publication: Journal article published
    PubMed ID: 22791012
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  • 10
    ISSN: 1437-9813
    Keywords: Ultrashort segment Hirschsprung's disease ; Biopsy ; Diagnosis ; Age distribution ; Sex ratio
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The enzyme histotopochemical characteristics of ultrashort segment Hirschsprung's disease are described on the basis of 18 cases of this form of impaired motility of the distal rectum, as diagnosed by biopsy in the last 20 years. Unfixed specimens of the rectal segment involved show significantly increased acetylcholinesterase activity in the parasympathetic fibers of the muscularis mucosae alone, the similar change in the lamina propria mucosae characteristic of classical Hirschsprung's disease usually being absent. In strip biopsy specimens of the rectal mucosa taken at the pectinate line, a transition is sometimes observed from aganglionic to normal innervation. The diagnosis of ultrashort segment Hirschsprung's disease may thus be missed if biopsies are taken too high, and it is therefore advisable to take the first biopsy at the pectinate line and further biopsies 1, 2, and 4 cm proximal to it or, alternatively, to take a strip biopsy. Two-thirds of the patients in this series were under 1 year of age at diagnosis, with the remainder between 4 and 21 years. Overall, ultrashort segment Hirschsprung's disease accounted for about 10% of all the cases of aganglionosis of the rectum and rectosigmoid (Hirschsprung's disease) encountered. However, improved knowledge of this particular form of the disease meant that the rate of diagnosis was considerably higher in the second half of the period, at 14% of all cases of aganglionosis and 6.8% of all cases of congenital innervation failures of the gut. The disease is thus relatively rare, though more common than total aganglionosis of the colon (Zuelzer-Wilson syndrome). The sex ratio — five males to one female — is similar to that for classical Hirschsprung's disease. Enzyme histotopochemical staining for acetylcholinesterase activity in the parasympathetic fibers of the rectal mucosa has confirmed beyond all doubt that ultrashort segment Hirschsprung's disease does exist as a special form of aganglionosis of the distal rectum.
    Type of Medium: Electronic Resource
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