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  • 1
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  GMS Current Posters in Otorhinolaryngology - Head and Neck Surgery; VOL: 10; DOC103 /20140519/
    Publication Date: 2014-05-20
    Description: Einleitung: Die Frage nach der Notwendigkeit eines Neugeborenenhörscreenings (NHS) ist geklärt. Unumstritten bleibt auch, dass für ein effektives NHS die Notwendigkeit eines suffizienten Trackings besteht. Doch auch 5 Jahre nach Inkrafttreten der Kinderrichtlinie gibt es kein bundesweit einheitliches Trackingsystem, was vor dem Hintergrund der anlaufenden Evaluierung durch den G-BA von Bedeutung ist.Methode: Nach Etablierung einer Trackingzentrale konnte das NHS in Sachsen-Anhalt flächendeckend ausgebaut werden. Die Daten werden dabei mit Hilfe der Trackingsoftware dokumentiert und ausgewertet.Ergebnisse: Gestartet als Pilotprojekt im Jahr 2006 mit 1.004 Neugeborenen in drei Geburtskliniken lag die Screeningrate bei 98,8%. Seit 2010 sind alle Geburtskliniken des Landes an das Tracking angeschlossen, so dass ein flächendeckendes Screening sichergestellt ist. Bei 16.888 Geburten 2012 im Land Sachsen-Anhalt konnte eine Erfassungsrate von 98,9% erreicht werden. Dabei ist der Trackingaufwand auf 3.299 Briefe und 1.286 Telefonate im Jahr 2009 gestiegen und dann trotz steigender Zahl der erfassten Kinder bis 2012 auf 2.736 Briefe und 312 Telefonate gesunken. Das ist auch auf die durch gute Aufklärung erreichte Akzeptanz bei allen Beteiligten für die Notwendigkeit dieser Untersuchung zurückzuführen.Schlussfolgerung: In Sachsen-Anhalt wird ein flächendeckendes NHS umgesetzt. Durch ein effizientes Tracking können dabei die vom G-BA formulierten Qualitätsmaßstäbe gesichert werden. Durch spezielle Schulungsprogramme und eine gute interdisziplinäre Zusammenarbeit können Probleme auch "Vor-Ort" besprochen werden, um einer Verschlechterung der Leistungsdaten entgegenzuwirken.Der Erstautor gibt keinen Interessenkonflikt an.
    Keywords: ddc: 610
    Language: German
    Type: article
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  • 2
    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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  • 3
    Keywords: GENE ; IDENTIFICATION ; etiology ; DEFICIENCY ; ANORECTAL-MALFORMATIONS ; VACTERL-ASSOCIATION ; VATER ASSOCIATION ; GONADOTROPIN-RELEASING-HORMONE ; TESTICULAR DESCENT ; HETEROTAXY
    Abstract: Background: The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods: We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients presenting with a VATER/VACTERL-like phenotype (two cardinal features). Results: We identified two heterozygous FGF8 mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER/VACTERL-like phenotype (p.Pro26Leu) without limb anomalies. Whereas the duplication mutation has not been reported before, p.Pro26Leu was once observed in a Kallmann syndrome patient. Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome. Each mutation was paternally inherited. Besides delayed puberty in both and additional unilateral cryptorchidism in one of the fathers, they were otherwise healthy. Serum hormone levels downstream the gonadotropin-releasing hormone in both patients and their fathers were within normal range. Conclusion: Our results suggest FGF8 mutations to contribute to the formation of the VATER/VACTERL association. Further studies are needed to support this observation.
    Type of Publication: Journal article published
    PubMed ID: 25131394
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  • 4
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  GMS Current Posters in Otorhinolaryngology - Head and Neck Surgery; VOL: 10; DOC200 /20140519/
    Publication Date: 2014-05-20
    Description: Einleitung: Seit dem 01.01.2009 hat jedes Neugeborene den gesetzlichen Anspruch auf die Untersuchung des Hörvermöges. Zielstellung ist es angeborene Hörstörungen frühzeitig zu diagnostizieren und der Therapie zu zuführen und möglichst alle Neugeborenen im Hörscreening zu erfassen. Es wird der Stand des Neugeborenenhörscreenings Sachsen-Anhalt dargestellt.Methode: Das Fehlbildungsmonitoring registriert die Hörscreeningergebnisse der Neugeborenen unter der anonymisierten Vergabe einer Screening-ID-Nummer. Zusätzlich verfolgt es nicht gescreente sowie auch im Hörtest nicht unauffällig gescreente Kinder durch Kontaktaufnahme zu den Eltern, Geburtseinrichtungen, Hebammen, Kinderärzten, HNO-Fachärzten telefonisch wie auch postalisch.Ergebnisse: Insgesamt wurden 17300 Kinder 2010 in Sachsen Anhalt geboren. Hiervon konnten 17054 Kinder im Fehlbildungsmonitoring erfasst werden, was 98,6% der Neugeborenen entspricht. Von diesen nahmen 260 Kinder nicht am Hörscreening teil, 20 Kinder verstarben in den ersten Lebenstagen, 158 Kinder waren im Hörscreening auffällig und wurden einer weiteren Hördiagnostik und Therapie erfolgreich zugeführt. Weitere 195 Kinder boten im Erstscreening einen nicht unauffälligen Befund, nahmen jedoch die Konfirmationsdiagnostik nicht an oder brachen sie unvollendet ab. Diese Gruppe wurde weiter hinsichtlich Hörstörung in einseitig und beidseitig untersucht. Einseitig hörgestört sind 117, beidseitig 77.Schlussfolgerung: Es sind mindestens 77 Kinder bezüglich einer relevanten beidseitigen Hörstörung ohne therapeutische Versorgung gefährdet und somit in ihrer Sprachentwicklung und kognitiven Leistungsfähigkeit potentiell eingeschränkt trotz des flächendeckenden Hörscreenings in Sachsen-Anhalt.Der Erstautor gibt keinen Interessenkonflikt an.
    Keywords: ddc: 610
    Language: German
    Type: article
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  • 5
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  130. Kongress der Deutschen Gesellschaft für Chirurgie; 20130430-20130503; München; DOC13dgch411 /20130426/
    Publication Date: 2013-04-27
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 6
    Keywords: SEQUENCES ; DEFECTS ; RING CHROMOSOME-13 ; 13Q33-34
    Abstract: Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like associations. Both deletions overlap the previously defined critical region for ARM. Heterozygous Efnb2 murine knockout models presenting with mild ARM suggest EFNB2 as an excellent candidate gene in this region. Our patients showed a mild ARM phenotype, closely resembling that of the mouse. We performed a comprehensive mutation analysis of the EFNB2 gene in 331 patients with isolated ARM, or ARM as part of VATER/VACTERL or VATER/VACTERL-like associations. However, we did not identify any disease-causing mutations. Given the convincing argument for EFNB2 as a candidate gene for ARM, analyses of larger samples and screening of functionally relevant non-coding regions of EFNB2 are warranted. In conclusion, our report underlines the association of chromosome 13q deletions with ARM, suggesting that routine molecular diagnostic workup should include the search for these deletions. Despite the negative results of our mutation screening, we still consider EFNB2 an excellent candidate gene for contributing to the development of ARM in humans.
    Type of Publication: Journal article published
    PubMed ID: 24038947
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  • 7
    Abstract: BACKGROUND: Adequate evidence on environmental risk factors for anorectal malformations (ARMs) is very limited. We assessed maternal body weight and several prenatal exposures of the parents to tobacco, pregestational diabetes, chronic cardiovascular and respiratory diseases, periconceptional folic acid and multivitamin intake. METHODS: Data from the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared with data from the Malformation Monitoring Centre Saxony-Anhalt of the Otto-von-Guericke University in Magdeburg, Germany. Controls were matched to cases by gender and birth year of the child. Crude and adjusted odds ratios (95% confidence intervals) were calculated for potential risk factors using multivariable logistic regression. RESULTS: In total, 158 ARM patients and 474 healthy infants born between 1993 and 2008 in Germany were included. Maternal age at birth of ARM cases and birth plurality were significantly higher and gestational age and weight significantly lower compared with controls (p 〈 0.0001). We observed significantly increased risks for ARMs associated with maternal smoking before conception and the first trimester of pregnancy (odds ratio = 2.23, 95% confidence interval 1.04-4.79, p = 0.039) and maternal chronic respiratory diseases (odds ratio = 29.25, 95% confidence interval 8.22-104.14, p 〈 0.0001). No statistically significant increased risk or protective effect was found for the other investigated factors. CONCLUSION: This study suggests an association between the occurrence of ARMs in the offspring and periconceptional maternal smoking as well as maternal chronic respiratory diseases. In addition, there might be a sign of an association for maternal diabetes, although not statistically significant. It can be assumed that the power is far too low to provide reliable estimates. Birth Defects Research (Part A) 106:133-141, 2016. (c) 2015 Wiley Periodicals, Inc.
    Type of Publication: Journal article published
    PubMed ID: 26690556
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  • 8
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  88. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie; 20170524-20170527; Erfurt; DOC17hno336 /20170413/
    Publication Date: 2017-04-13
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 9
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  86. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie; 20150513-20150516; Berlin; DOC15hnod338 /20150326/
    Publication Date: 2015-03-27
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 10
    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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