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101.
102.
Franziska Carmen Grafen Valentin Neuhaus Othmar Schöb Matthias Turina 《Langenbeck's archives of surgery / Deutsche Gesellschaft fur Chirurgie》2010,395(1):57-63
Purpose
The aim of this study is to compare the results of laparoscopic management of acute small bowel obstruction (SBO) from abdominal adhesions to both exploratory laparotomy and secondary conversion to open surgery. 相似文献103.
Christine B. Schneider MD Maximilian Pilhatsch MD Martina Rifati Wolfgang H. Jost MD Franziska Wodarz Georg Ebersbach MD Daniela Djundja Gerd Fuchs MD Arne Gies Per Odin MD Gerd Reifschneider MD Martin Wolz MD Antonia Bottesi MD Michael Bauer MD PhD Heinz Reichmann PhD Alexander Storch MD 《Movement disorders》2010,25(6):777-783
Beck depression inventory (BDI‐1A) is the gold standard screening tool for Parkinson's disease (PD) depression, but as a result of its complexity, it is of limited suitability as a quick and easy screening device. We, therefore, validate the 5‐item WHO‐Five Well‐being Index (WHO‐5) as a screening tool for PD depression. Two hundred thirteen of 215 recruited PD patients (99.1%) completed the WHO‐5. Receiver operating characteristic plots were used to calculate sensitivity/specificity for all cut‐off scores for the detection of depression and combined depression/dysthymia as assessed by an independent investigator using the Mini International Neuropsychiatric Interview (MINI). Internal consistency of the WHO‐5 was good (Cronbach's α = 0.83). WHO‐5 showed high validity with adequate detection of depression without differences in the validity indices compared to BDI‐1A (P = 0.234). The optimal cut‐off value for detection of depression was 12 of 13 points. WHO‐5 is a useful, brief, and easy instrument for identifying PD subjects with depression in daily practice. © 2010 Movement Disorder Society 相似文献
104.
Stefanie Birnbaum Kerstin U. Ludwig Heiko Reutter Stefan Herms Nilma A. De Assis Amalia Diaz‐Lacava Sandra Barth Carola Lauster Gül Schmidt Martin Scheer Mitra Saffar Markus Martini Rudolf H. Reich Franziska Schiefke Alexander Hemprich Simone Pötzsch Bernd Pötzsch Thomas F. Wienker Per Hoffmann Michael Knapp Franz‐Josef Kramer Markus M. Nöthen Elisabeth Mangold 《European journal of oral sciences》2009,117(6):766-769
Variants in the interferon regulatory factor 6 (IRF6) gene have repeatedly been associated with non‐syndromic cleft lip with or without cleft palate (NSCL/P). A recent study has suggested that the functionally relevant variant rs642961 is the underlying cause of the observed associations. We genotyped rs642961 in our Central European case–control sample of 460 NSCL/P patients and 952 controls. In order to investigate whether other IRF6 variants contribute independently to the etiology of NSCL/P, we also genotyped the non‐synonymous coding variant V274I (rs2235371) and five IRF6‐haplotype tagging single nucleotide polymorphisms (SNPs). A highly significant result was observed for rs642961 (P = 1.44 × 10?6) in our sample. The odds ratio was 1.75 [95% confidence interval (CI): 1.38–2.22] for the heterozygous genotype and 1.94 (95% CI: 1.21–3.10) for the homozygous genotype, values that are similar to those reported in a previously published family‐based study. Our results thus confirm the involvement of the IRF6 variant, rs642961, in the etiology of NSCL/P in the Central European population. We also found evidence suggestive of an independent protective effect of the coding variant V274I. In order to understand fully the genetic architecture of the IRF6 locus, it will be necessary to conduct additional SNP‐based and resequencing studies using large samples of patients. 相似文献
105.
106.
Franziska M Gisler Thomas von Kanel Richard Kraemer André Schaller Sabina Gallati 《European journal of human genetics : EJHG》2013,21(4):397-403
There is growing evidence that the great phenotypic variability in patients with cystic
fibrosis (CF) not only depends on the genotype, but apart from a combination of
environmental and stochastic factors predominantly also on modifier gene effects. It has
been proposed that genes interacting with CF transmembrane conductance regulator (CFTR)
and epithelial sodium channel (ENaC) are potential modifiers. Therefore, we assessed the
impact of single-nucleotide polymorphisms (SNPs) of several of these interacters on CF
disease outcome. SNPs that potentially alter gene function were genotyped in 95
well-characterized p.Phe508del homozygous CF patients. Linear mixed-effect model analysis
was used to assess the relationship between sequence variants and the repeated
measurements of lung function parameters. In total, we genotyped 72 SNPs in 10 genes.
Twenty-five SNPs were used for statistical analysis, where we found strong associations
for one SNP in PPP2R4 with the lung clearance index (P≤0.01), the
specific effective airway resistance (P≤0.005) and the forced expiratory
volume in 1 s (P≤0.005). In addition, we identified one SNP in
SNAP23 to be significantly associated with three lung function parameters as
well as one SNP in PPP2R1A and three in KRT19 to show a significant
influence on one lung function parameter each. Our findings indicate that direct
interacters with CFTR, such as SNAP23, PPP2R4 and PPP2R1A, may modify the residual
function of p.Phe508del-CFTR while variants in KRT19 may modulate the amount of
p.Phe508del-CFTR at the apical membrane and consequently modify CF disease. 相似文献
107.
108.
109.
Franziska Rademacher Maren Simanski Lena Schröder Michael Mildner Jürgen Harder 《Experimental dermatology》2017,26(3):227-233
The ribonuclease RNase 7 is a major skin‐derived human antimicrobial protein expressed in keratinocytes. Here we show that the gram‐negative pathogen Pseudomonas aeruginosa secretes factor(s) that induced RNase 7 gene and protein expression in human primary keratinocytes. The metalloprotease inhibitor marimastat, the epidermal growth factor receptor (EGFR) inhibitor AG1478 and the EGFR blocking antibody cetuximab significantly attenuated this induction, indicating an important role of the EGFR for the P. aeruginosa‐mediated RNase 7 induction. In line with this, siRNA‐mediated downregulation of ADAM17, a metalloprotease known to proteolytically mediate the release of soluble EGFR ligands, decreased the P. aeruginosa‐mediated RNase 7 induction in keratinocytes. The impact of the EGFR was also demonstrated in a human 3D skin equivalent where blockade of the EGFR diminished induction of RNase 7 by P. aeruginosa. Blockade of Toll‐like receptor 5 (TLR5), a pattern recognition receptor (PRR) known to be activated by P. aeruginosa, only moderately reduced the P. aeruginosa‐mediated RNase 7 induction in keratinocytes. The functional relevance of RNase 7 to participate in cutaneous defense against P. aeruginosa was demonstrated by antibodies that neutralized the antimicrobial activity of RNase 7. These antibodies significantly inhibited the capacity of human stratum corneum skin extracts to control growth of P. aeruginosa. Taken together, our results indicate that P. aeruginosa induces the expression of RNase 7 in keratinocytes in an EGFR‐dependent manner. Enhanced release of RNase 7 contributes to control cutaneous growth of P. aeruginosa. 相似文献
110.
Birgit Burkhardt Anja Moericke Wolfram Klapper Franziska Greene Janina Salzburg Christine Damm-Welk Martin Zimmermann Konstantin Strauch Wolf-Dieter Ludwig Martin Schrappe Alfred Reiter 《Leukemia & lymphoma》2008,49(3):451-461
Deletions on chromosome 6q are frequently reported in hematological malignancies. However, their biological or prognostic impact has not yet been clarified. This study analyzed loss of heterozygosity (LOH) at chromosome 6q and compared the LOH findings in pediatric precursor T lymphoblastic lymphoma (T-LBL) with the LOH findings in precursor-T lymphoblastic leukemia (T-ALL). For LOH analyses, a set of 25 microsatellite-markers on 6q14-q24 were examined. All patients were treated uniformly according to ALL-BFM-type treatment-strategy. A total of 1671 markers were successfully analyzed from 108 T-LBL patients. LOH was detected in 21 T-LBL patients. There was clear association between LOH at 6q and an increased risk of relapse. In comparison, 3109 markers were successfully analyzed from 127 T-ALL-patients. LOH was detected in 16 patients, but was not associated with increased relapse-rate. The localization of the common LOH regions identified for T-LBL and T-ALL samples did not overlap. Therefore patterns of LOH at 6q and the prognostic impact of LOH differ between T-ALL and T-LBL. These results hint at biologic differences between the two diseases. 相似文献