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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: 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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  • 3
    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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  • 4
    Abstract: BACKGROUND: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. METHODS: To detect further causative CNVs we performed array based molecular karyotyping in 75 VATER/VACTERL and 40 VATER/VACTERL-like patients. RESULTS: Following the application of stringent filter criteria, we identified 13 microdeletions and seven microduplications in 20 unrelated patients all of which were absent in 1,307 healthy inhouse controls (n 〈 0.0008). Among these, microdeletion at 17q12 was confirmed to be de novo. Three microdeletions at 5q23.1, 16q23.3, 22q11.21, and one microduplication at 10q11.21 were all absent in the available parent. Microdeletion of chromosomal region 22q11.21 was previously found in VATER/VACTERL patients rendering it to be causative in our patient. The remaining 15 CNVs were inherited from a healthy parent. CONCLUSION: In two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. (c) 2017 Wiley Periodicals, Inc.
    Type of Publication: Journal article published
    PubMed ID: 28605140
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  • 5
    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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  • 6
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  38. Jahrestagung der Deutschsprachigen Arbeitsgemeinschaft für Verbrennungsbehandlung (DAV 2020); 20200115-20200118; Zell am See, Österreich; DOCP03 /20200113/
    Publication Date: 2020-01-14
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 7
    ISSN: 1573-7217
    Keywords: metastatic breast cancer ; intensive chemotherapy ; consolidation radiotherapy ; complete remission ; side effects
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Twenty-three patients with metastatic breast carcinoma were induced with a complex systemic therapy regimen in an attempt to ascertain if a complete remission rate 〉50% could be obtained with intensive drug exposure. The durability of the remissions was observed by discontinuing therapy after 3 cycles in complete remission or after 6 cycles of treatment, whichever was longer. In 13 patients consolidation radiation therapy to the pre-treatment sites of disease was administered after discontinuing systemic therapy. Each 28 day cycle of the drug regimen consisted of pulses of adriamycin, vincristine, dibromodulcitol, prednisone, methotrexate with leukovorin rescue, hexamethylmelamine, bleomycin (discontinued after entry #17), fluoxymesterone, and tamoxifen. Eighteen of the 23 patients achieved complete remissions (78%) and 3 had partial remissions. The median times to treatment failure and survival were, respectively, 12.3 and 19.4 mos. The times for complete remission patients were, respectively, 13.5 and 23.9 mos. Consolidation radiotherapy at ≥ 40 Gy to drug induced pre-study sites of complete remission was associated with first relapses at prestudy sites in 5/30 (17%) instances, compared to 21/35 (60%) in sites not receiving radiotherapy. Side-effects were commensurate with the intensity of the treatment program and are detailed in the text. Although the achievement of a high complete remission rate is promising, the failure to extend their duration beyond that of historical data suggests that additional conceptual and therapeutic approaches need to be explored.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-044X
    Keywords: Schlüsselwörter HWS • Trauma • Dens-axis-Fraktur • Schraubenosteosynthese • Ergebnisse ; Key words Cervical spine • Trauma • Odontoid fracture • Anterior screw fixation • Results
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The results of anterior screw fixation of odontoid fractures in 28 patients are presented. There were 27 type II- and 1 type III-injuries. Non-union with persistent instability had to be notified in one patient (3.6 %), secondary posterior C1/2 fusion had to be performed. Incorrect positioning of the screws in the odontoid with penetration of the postero-lateral cortex occurred in 3 patients (10.7 %). Malpositioning of the odontoid after screw fixation was documented in 5 cases (17.9 %). Cardiopulmonary complications had to be treated in 5 patients (17.9 %), 4 patients (14.3 %) died in the postoperative period. 17 patients could be followed up. Only 3 patients (17.8 %) were free of symptoms. A significant limitation in ROM of axial rotation was seen in 44 % of the patients. With anterior screw fixation of the odontoid high fusion rates can be achieved, however the procedure is technically demanding. Regarding the functional outcome, there is no significant difference to other established treatment methods.
    Notes: Zusammenfassung Retrospektiv wurden die Ergebnisse nach direkter Verschraubung von Frakturen des Dens axis bei 28 Patienten evaluiert. Bis auf eine Typ-III-Fraktur wurden ausnahmslos Typ-II-Verletzungen osteosynthetisch versorgt. Eine verzögerte Frakturheilung mit persistierender Instabilität trat bei der Typ-III-Fraktur (3,6 %) auf, konsekutiv war eine Reoperation erforderlich. Eine Schraubenfehllage mit nur partiellem Fassen des Densfragments wurde postoperativ bei 3 Patienten (10,7 %) dokumentiert. Eine persistierende Achsabweichung des Densfragments zeigte sich postoperativ in 5 Fällen (17,9 %). Allgemeine kardiopulmonale Komplikationen waren bei 5 Patienten (17,9 %) aufgetreten, insgesamt 4 Patienten (14,3 %) waren in der postoperativen Phase verstorben; 17 Patienten konnten mindestens 1 Jahr postoperativ nachuntersucht werden. Lediglich 3 (17,8 %) Patienten waren beschwerdefrei. Eine signifikante Einschränkung der Rotationsbewegung der HWS war in 44 % der Fälle zu verzeichnen. Die direkte Verschraubung von Typ-II-Frakturen des Dens axis weist eine hohe Konsolidierungsrate auf, ist jedoch technisch anspruchsvoll. Hinsichtlich der funktionellen Ergebnisse ergibt sich kein wesentlicher Vorteil gegenüber anderen etablierten Verfahren.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-0428
    Keywords: Diabetes mellitus ; juvenile ; etiology ; insulin-dependent diabetes ; occurrence ; seasonal variation ; Type 1 diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In a hospital-based records study of Type 1 (insulin-dependent) diabetes mellitus among persons aged 0 to 29 years in two Wisconsin, USA counties (1970–79), the age-adjusted yearly incidence rate for white males (16.4/100,000) was significantly higher than for white females (11.6/100,000) (p = 0.006). Overall age-adjusted rates are similar to rates previously reported for the United States and the northern European countries of Denmark and Norway. Seasonal variation in diagnosis was found for total cases and males aged 10 to 19 years. A striking difference also was found in seasonal diagnosis between urban and rural cases. A diagnosis peak in the third and fourth quarter among rural cases contrasted with even quarterly distribution among urban cases. In addition, 52% of rural male cases aged 10 to 19 years were diagnosed during the fourth quarter while no seasonal pattern occurred among urban males the same ages. These findings identify subgroups for focus of future etiologic investigations.
    Type of Medium: Electronic Resource
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