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  • Anorectal malformation  (1)
  • CONGENITAL-MALFORMATIONS  (1)
  • DEFINITION  (1)
  • 1
    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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  • 2
    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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  • 3
    Keywords: PREVALENCE ; METAANALYSIS ; TECHNOLOGY ; descriptive epidemiology ; BIRTH-DEFECTS ; CONGENITAL-MALFORMATIONS ; IN-VITRO FERTILIZATION ; INFANTS BORN ; CHILDREN BORN ; IVF-METHODS
    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.
    Type of Publication: Journal article published
    PubMed ID: 22978793
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