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  • 1
    Keywords: GENES ; PROJECT ; OF-THE-LITERATURE ; FAMILIES ; EPISPADIAS COMPLEX BEEC ; imputation ; DYSREGULATION ; GUDMAP ; SALL1 ; PLAYS
    Abstract: Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P = 8.88 x 10(-5); follow-up: P = 0.0025; combined: 1.09 x 10(-6)) in a highly conserved 32 kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
    Type of Publication: Journal article published
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  • 2
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  PTCOG 48; Meeting of the Particle Therapy Co-Operative Group; 20090928-20091003; Heidelberg; DOC09ptcog220 /20090924/
    Publication Date: 2009-09-25
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
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  • 3
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  44. gemeinsamen Tagung der Bayerischen Urologenvereinigung und der Österreichischen Gesellschaft für Urologie und Andrologie; 20180614-20180616; Rosenheim; DOC18urobay007 /20180517/
    Publication Date: 2018-05-18
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 4
    ISSN: 1433-0563
    Keywords: Key words Vesicorenal reflux • Extravesical • Intravesical • Ureter • Reimplantation ; Schlüsselwörter Vesikorenaler Reflux • Extravesikal • Intravesikal • Harnleiter • Reimplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Pathologien im Bereich der ureterovesikalen Verbindung können prinzipiell in intravesikaler oder extravesikaler Vorgehensweise korrigiert werden. An unserem Kinderurologischen Zentrum in Erlangen wurden im 5-Jahres-Zeitraum von März 1991 bis März 1996 117 ureterorenale Einheiten extravesikal operiert, von denen 111 (94,9 %) postoperativ saniert waren. Diese Resultate sind vergleichbar mit der Erfolgsquote intravesikaler Techniken, bei deutlich reduzierter postoperativer Morbidität. Makrohämaturie und Blasentenesmen traten nicht auf. Zusatzpathologien wie paraostiale Divertikelbildung, Megaureter mit Notwendigkeit der Harnleitermodellage und Ureter duplex beeinträchtigen den Operationserfolg nicht.
    Notes: Summary In correction of the ureterovesical junction, the pathology can be corrected using an extravesical or intravesical technique. We performed an extravesical antireflux procedure with the dismembered or non-dismembered technique in 117 ureters between March 1991 and March 1996 at our Department of Pediatric Urology. The success rate was 94.9 % (111 renal units). Postoperative morbidity and complications were minimal, hematuria and bladder spasms were not seen. Associated pathology like paraostial diverticula, megaureter with the necessity for modeling and ureter duplex do not compromise the success rate.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Der Urologe 38 (1999), S. 372-375 
    ISSN: 1433-0563
    Keywords: Key words Urethral diverticulum • Localization • ; Infection • Excision ; Schlüsselwörter Harnröhrendivertikel • Lokalisation • ; Entzündung • Exstirpation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Harnröhrendivertikel im Kindesalter sind eine sehr seltene urologische Erkrankung. Die bevorzugte Lokalisation ist die Vaginalseite der Urethra, ventral gelegene Divertikel sind eine absolute Rarität. Wir berichten über eine 10jährige Patientin, bei der im Rahmen der Abklärung einer persistierenden Enuresis ein großes, ventral gelegenes Harnröhrendivertikel diagnostiziert wurde. Die Exzision erfolgte über eine mediane Unterbauchlaparatomie. Postoperativ erfolgte die Harnableitung über einen suprapubischen Katheter. Im Kontrollmiktionszysturethrogramm konnten sowohl Divertikelreste als auch eine Urinextravasation ausgeschlossen werden.
    Notes: Summary In total urethral diverticula in children represent a very rare urological disorder. Primary localisation is the dorsal side of the urethra, ventral located diverticula are extremely rare. We report on a ten year old girl with a ventral, urethral diverticulum presenting with the symptoms of persisting enuresis. The diverticulum was excised through a median laparatomy. Placement of suprapubic catheter facilitated adequate postoperative drainage and postoperative cystourethrography confirmed the absence of extravasation.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Vesikorenaler Reflux ; Endoskopische Antirefluxplastik ; Kollagen ; Key words Vesicorenal reflux ; Endoscopic antirefluxive treatment ; Collagen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Purpose: In a retrospective study we assessed the efficacy of the subureteric collagen injection procedure in the refluxing ureter. Methods: The subureteric, endoscopic antireflux procedure was performed from March 1991 till March 1997 in 135 children mean age 5,4 years (range 12 months till 16,1 years) with 205 refluxing ureters. In 180 refluxing units micturating cystography and ultrasound were controlled at the end of the study period of which 162 ureters showed a primary and 18 a secondary reflux. Results: The overall cure rate after one or two times injection therapy was 67,2% in long term follow up. Intraoperative and early surgical complications were not seen. No patient suffered ureteric obstruction. Conclusion: The management of vesicorenal reflux in children remains controversial. The specific indication for conservative management, endoscopic therapy and open surgery is debated especially for the treatment of low grade reflux. Regarding our own results and the reports in the literature endoscopic treatment of vesicorenal reflux seems to be an alternative method in the treatment of vesicorenal reflux.
    Notes: Zusammenfassung Fragestellung: In einer retrospektiven Studie wird der Stellenwert der endoskopischen Refluxtherapie durch Kollageninjektion untersucht. Methode: Im Untersuchungszeitraum von März 1991 bis März 1997 wurde bei 135 Kindern mit 205 Niereneinheiten im Alter von 12 Monaten bis 16,1 Jahren eine endoskopische, subureterale Antirefluxplastik durchgeführt. 180 von ihnen waren zum Studienende mittels Miktionszysturethrografie und Sonografie nachkontrolliert. Bei 162 Harnleitern handelte es sich um einen angeborenen und bei 18 um einen erworbenen Reflux. Ergebnisse: Nach 1- bzw. 2maliger Kollagenunterspritzung waren 67,2% zum Zeitpunkt der Nachuntersuchung refluxfrei. Intra- oder perioperative Komplikationen traten nicht auf. Ebensowenig wurden Harnleiterobstruktionen beobachtet. Schlußfolgerung: Die Indikation für die Durchführung einer antibiotischen Langzeittherapie, einer endoskopischen Therapie und einer Ureterreimplantation steht nach wie vor zur Diskussion, insbesondere für die Behandlung niedriggradiger Refluxe. Es besteht kein Zweifel, daß die endoskopische, subureterale Injektion eine effiziente alternative Therapie des vesikorenalen Refluxes ist.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1433-0563
    Keywords: Key words Augmentation cystoplasty • Exstrophy reconstruction • Pediatric pain therapy • Weak opioids ; Schlüsselwörter Blasenaugmentation • Funktionelle Blasenekstrophierekonstruktion • Kinderschmerztherapie • Schwache Opioide
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Wir haben bei 17 Kindern (Mittel: 7,1 Jahre) die kontinuierliche Applikation von Tramadol nach Blasenaugmentation oder funktioneller Blasenekstrophierekonstruktion untersucht. Die Dauer der Tramadolgabe auf der Kinderstation betrug 3,8 ± 1,1 Tage (Anfangsdosierung: 0,25 mg/kg/h, Dosisanpassung durch das Pflegepersonal). Der mittlere Tramadolverbrauch belief sich am 1. Behandlungstag auf 0,21 mg/kg/h und verringerte sich bis zum 4. Tag auf 0,08 mg/kg/h. Die mittels 10stufiger Skalen bestimmten Schmerzwerte (Median) lagen vor der Therapie bei 5 und während der Behandlung zwischen 2,5 (Tag 1) und 0,5 (Tag 5). Die niedrigsten Sauerstoffsättigungen wurden im Mittel zwischen 93,8 und 95,2 % gemessen; 3 Patienten (17,6 %) litten an 3 von 64 Behandlungstagen (4,7 %) an Übelkeit und Erbrechen. Pruritus und eine extrem starke Sedierung traten nicht auf. Die kontinuierliche Gabe von Tramadol stellt ein einfaches und sicheres Verfahren nach großen kinderurologischen Eingriffen dar.
    Notes: Summary We investigated in 17 children (mean 7.1 years) the continuous administration of tramadol following augmentation cystoplasty or exstrophy reconstruction. Mean duration of the tramadol administration on the pediatric ward was 3.8 ± 1.1 days (initial dosage 0.25 mg/kg/per hour, dose adjustment by the nursing staff). Mean tramadol consumption was 0.21 mg/kg/h on day 1 and was reduced to 0.08 mg/kg/per hour on day 4. Median pain score (assessed with ten-step scales) was 5 before treatment and between 2.5 (day 1) and 0.5 (day 5) during therapy. Lowest oxygen saturations (mean) ranged from 93.8 % to 95.2 %. Three patients (17.6 %) suffered from nausea/vomiting on 3 of 64 treatment days (4.7 %). Pruritus and extreme sedation did not occur. The continuous administration of tramadol is a simple and safe procedure following major urological surgery in children.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1365-2036
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background : Pantoprazole is claimed to have a lower potential for drug interaction than other proton pump inhibitors.Aim : To estimate the frequency of adverse events and drug interactions reported to the Food and Drug Administration in patients receiving omeprazole, lansoprazole or pantoprazole.Methods : The study involved a search of the Food and Drug Administration's database for adverse events and drug interactions with omeprazole, lansoprazole or pantoprazole as primary or secondary suspect drug. An estimate of the amount of drug dispensed during the adverse event collection period (from US drug launch) was obtained from the International Medical Statistics health database.Results : Of the suspected drug interactions recorded, vitamin K antagonist interactions, although rare, were the most common. The frequency of vitamin K antagonist interactions was 0.09 per million packages for omeprazole and 0.11 per million packages for lansoprazole and pantoprazole. Interactions with benzodiazepines or phenytoin were even rarer, being reported in less than 10 patients on each proton pump inhibitor.Conclusion  The frequency of reported drug interactions was low for omeprazole, lansoprazole and pantoprazole and vitamin K antagonist interactions were by far the most common. These potentially important drug interactions, although rare, were no less frequent on pantoprazole than on omeprazole or lansoprazole, suggesting a class effect.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1434-601X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract The production of neutral pions in nucleus nucleus collisions with 44 MeV/u Ar projectiles from the accelerator GANIL has been observed. The angular distributions indicate a collective production process, and the pion spectra reflect properties of the collision dynamics.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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