A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, Lars G.,Igl, Wilmar,Cooke Bailey, Jessica N.,Grassmann, Felix,Sengupta, Sebanti,Bragg-Gresham, Jennifer L.,Burdon, Kathryn P.,Hebbring, Scott J.,Wen, Cindy,Gorski, Mathias,Kim, Ivana K.,Cho, Nature Pub. Co 2016 Nature genetics Vol.48 No.2

<P>Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly with limited therapeutic options. Here, we report on a study of >12 million variants including 163,714 directly genotyped, most rare, protein-altering variant. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5×10<SUP>–8</SUP>) distributed across 34 loci. While wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first signal specific to wet AMD, near <I>MMP9</I> (difference-P = 4.1×10<SUP>–10</SUP>). Very rare coding variants (frequency < 0.1%) in <I>CFH</I>, <I>CFI</I>, and <I>TIMP3</I> suggest causal roles for these genes, as does a splice variant in <I>SLC16A8</I>. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.</P>

A Note on Forecasting the Euro: Do Forecasters Have an Asymmetric Loss Function?

Ulrich Fritsche,Christian Pierdzioch,Jan-Christoph Rulke,Georg Stantmann 한국국제경제학회 2014 International Economic Journal Vol.28 No.2

Based on the approach advanced by Elliott,Komunjer, and Timmermann(2005), we analyzedwhether the loss function of a sample of exchange-rate forecasters is asymmetric in the forecast error. Using forecasts of the dollar/euro exchange rate,we found that the shape of the loss function varies across forecasters. Some forecasters appear to make forecasts under an asymmetric loss function, while a symmetric loss function seems to describe well the loss function of other forecasters. Accounting for an asymmetric loss function does not necessarily make forecasts ‘look’ rational.

Efficient planning and numerical analysis of industrial hemming processes

Igor Burchitz,David Fritsche,Goran Grundmann,Matthias Hillmann 한국소성가공학회 2011 기타자료 Vol.2011 No.8

Hemming is a forming operation used in the automotive industry to join inner and outer components during the assembly of closures. These are typically opening parts of the body-in-white with additional requirements to their visual appearance. A suitable production concept of hemming operation which satisfies quality, capacity and cost requirements is determined during hemming planning activities. A digital tool to facilitate these activities and minimize the amount of trial and error iterations in try-out phase is presented in this paper. This tool can be used to define process plan, active tool surfaces and suitable process parameters for both die hemming and roll hemming operations. In case of early feasibility studies, when the die layout of the drawing operation is still not available, 3D part geometry is used directly to develop the concept of hemming process. Advanced validation studies, aimed at process optimization and controlling defects associated with hemming, can be based on complete simulation of all forming operations. Validation and analysis of developed concepts of hemming operation is done using the standard AutoForm-Incremental solver. Submesh strategy and special algorithm for contact description between inner and outer parts were implemented to ensure that accurate simulation results can be obtained within reasonable calculation time. Performance of the new software tool for hemming planning and accuracy of simulation results are demonstrated using several simple benchmarks and a real industrial part. It is shown that the new software tool can help to secure the efficient production launch by providing adequate support in try-out phase.

Randomized Crossover-Controlled Evaluation of Simultaneous Bilateral Transcutaneous Electrostimulation of the Posterior Tibial Nerve During Urodynamic Studies in Patients With Lower Urinary Tract Symptoms

Florian Girtner,Hans-Martin Fritsche,Florian Zeman,Toni Huber,Maximilian Haider,Christoph Pickl,Maximilian Burger,Roman Mayr 대한배뇨장애요실금학회 2021 International Neurourology Journal Vol.25 No.4

Purpose: Transcutaneous tibial nerve stimulation (TTNS) has proven to be a valuable treatment option for various lower urinary tract conditions, such as overactive bladder syndrome and neurogenic detrusor overactivity. The aim of this study was to investigate acute changes in urodynamic parameters due to bilateral TTNS. Methods: Fifty-one patients (18–87 years; 61% female) with various lower urinary tract symptoms were enrolled in this study. They were single-blinded and randomly assigned to receive simultaneous bilateral TTNS either during their first urodynamic examination, followed by a second round using a placebo stimulation technique, or vice versa. Results: For subjects without signs of anatomical pathologies, the filling volume at the first desire to void (FDV) increased significantly by 54 mL (interquartile range [IQR], 26–81 mL; P<0.01) under the influence of TTNS compared to placebo. The maximum cystometric capacity increased by 41 mL (IQR, 10–65 mL; P=0.02). The median micturition volume of patients with pathological postvoid residual volumes (>100 mL) increased by 76 mL compared to patients without urinary retention (IQR, 6–166 mL; P=0.03). Conclusions: Compared to placebo, simultaneous bilateral TTNS showed significant improvements in bladder functioning, such as delayed FDV, increased maximum cystometric capacity, and reduced urinary retention. Patients with signs of anatomical pathologies did not seem to benefit from TTNS. Further studies need to be conducted to compare the effectiveness of bilateral versus unilateral TTNS.

European anesthesiologists’ experiences with gender-based mistreatment in the workplace: a secondary multilevel regression analysis

Berger-Estilita Joana,Fritsche Luana,El-Boghdadly Kariem,Dias Claudia Camila,Zdravkovic Marko 대한마취통증의학회 2024 Korean Journal of Anesthesiology Vol.77 No.1

Background: Workplace gender-based mistreatment (GBM) refers to negative or harmful behaviors directed towards employees. In healthcare settings, this can lead to job dissatisfaction and underperformance and potentially compromise patient outcomes. The aim of this study was to examine workplace GBM among European anesthesiologists and produce the first European Gender-based Mistreatment Rank in Anesthesiology.Methods: We conducted a secondary analysis from a worldwide cross-sectional survey database consisting of a 46-item questionnaire exploring, among other outcomes, gender bias attributable to workplace attitudes. The survey completion rate was 80.8%. All respondents were selected from European countries. Associations between mistreatment and the remaining variables were analyzed using univariate and multivariate logistic regression analyses. A generalized linear mixed model was then used to quantify the impact of mistreatment in each European country. Statistical significance was set at P < 0.05. Results: This study included 5,795 respondents from 43 European countries. The independent predictors of GBM were as follows: female gender, younger age, perceiving gender as a disadvantage for leadership, and perceiving gender as a disadvantage for research. The full model was statistically significant, indicating an ability to distinguish between those who experienced GBM and those who did not (P < 0.001). Thus, 26 European countries were ranked based on the prevalence of mistreatment, with Italy showing the best performance (lowest prevalence).Conclusions: The aim of our study was to provide preliminary insight into GBM in anesthesiology in Europe, function as a key benchmark for gender equity, and chart the evolution of disparities over time.

What do patients with urothelial cancer know about the association of their tumor disease with smoking habits? Results of a German survey study

Matthias May,Hans-Martin Fritsche,Christian Gilfrich,Mirja Dombrowski,Odilo Maurer,Philipp Spachmann,Manju Ganesh Kumar,Marc Bjurlin,Maximilian Burger,Sabine Brookman-May 대한비뇨의학회 2018 Investigative and Clinical Urology Vol.59 No.3

Purpose: Smoking represents a primary risk factor for the development of urothelial carcinoma (UC) and a relevant factor impacting UC-specific prognosis. Data on the accordant knowledge of UC-patients in this regard and the significance of physicians in the education of UC-patients is limited. Materials and Methods: Eighty-eight UC-patients were enrolled in a 23-items-survey-study aimed to analyse patient knowledge and awareness of their tumor disease with smoking along with physician smoking cessation counselling. Results: The median age of the study patients was 69 years; 26.1% (n=23), 46.6% (n=41), and 27.3% (n=24), respectively, were non-smokers, previous, and active smokers. Exactly 50% of active smokers reported a previous communication with a physician about the association of smoking and their tumor disease; however, only 25.0% were aware of smoking as main risk factor for UC development. Merely 33% of the active smokers had been prompted directly by their physicians to quit smoking. About 42% of active smokers had received the information that maintaining smoking could result in a tumor-specific impairment of their prognosis. Closely 29% of active and about 5% of previous smokers (during the time-period of active smoking) had been offered support from physicians for smoking cessation. No association was found between smoking anamnesis (p=0.574) and pack-years (p=0.912), respectively, and tumor stage of UC. Conclusions: The results of this study suggest that the medical conversation of physicians with UC-patients about the adverse significance of smoking is limited. Implementation of structured educational programs for smoking cessation may be an opportunity to further enhance comprehensive cancer care.

Working Together: Health Promoting Schools and School Nurses

Kathleen Fritsch,Karen A. Heckert 한국간호과학회 2007 Asian Nursing Research Vol.1 No.3

The health of children and adolescents pose multiple challenges for health professionals in these times of rapid socioeconomic, political, cultural, epidemiological and health system changes. The health promoting schools approach and accompanying national models, regional and global initiatives, provide a mechanism for integrating health promotion and core nursing functions into schools and communities, while preventing premature morbidity and mortality from chronic and debilitating conditions. Nurses, in collaboration with educators, other health professionals, students, parents, councils and community members, are core and instrumental means to generate and support change in school settings, aimed at creating environments supportive to health.

Intensity of Optical Absorption Close to the Band Edge in Strained ZnO Films

Daniel FRITSCH,Heidemarie Schmidt,Rudiger SCHMIDT-GRUND,Marius GRUNDMANN 한국물리학회 2008 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.53 No.1

Besides other one of the remarkable properties making wurtzite ZnO such an interesting material is its large exciton binding energy of about 60 meV, leading to stable excitons atrom-temperature. Also, the Curie temperature of this wide-gap material has ben predicted to lie above rom tem- perature, making ZnO aloyed with magnetic ions a posible material for spintronics applications. One big chalenge in the fabrication of ZnO-based heterostructure devices is the latice mismatch betwentheZnO films and the substrates and the different thermal expansion coeffcients inducing biaxial strain. This work reports on the electronic band structure of biaxialy strained ZnO for strains along the a-or the c-axis ranging from -1 % to 1 %, as calculated by means of the empirical pseudopotential method. thereby, we also acount for relativistic eects in the form of the spin- orbit interaction, as wel as for the energy dependence of the crystal potential through the use of nonlocal model potentials. Moreover, the application of a variable plane wave basis set alows us to directly obtain the strain-induced variations of the electronic and the optical properties of wurtzite ZnO.

Anomalous Biceps Femoris Tendon Insertion Leading to a Snapping Knee in a Young Male

( Brett A Fritsch Fracs ),( Vikram Mhaskar Ms ) 대한슬관절학회 2017 대한슬관절학회지 Vol.29 No.2

Snapping biceps femoris tendon is an uncommon problem that can be caused by various anatomical aberrations around the knee joint. There are several case reports in the literature describing some of these anatomical variations and their treatment. We present a case of unilateral snapping biceps femoris tendon due to a previously unreported anatomical variation, our technique for successful surgical treatment, and a review of the literature.

Speckle tracking ultrasonography as a new tool to assess diaphragmatic function: a feasibility study

Sebastian Johannes Fritsch,Nima Hatam,Andreas Goetzenich,Gernot Marx,Rüdiger Autschbach,Leo Heunks,Johannes Bickenbach,Christian Simon Bruells 대한초음파의학회 2022 ULTRASONOGRAPHY Vol.41 No.2

A reliable method of measuring diaphragmatic function at the bedside is still lacking. Widely used two-dimensional (2D) ultrasonographic measurements, such as diaphragm excursion, diaphragm thickness, and fractional thickening (FT) have failed to show clear correlations with diaphragmatic function. A reason for this is that 2D ultrasonographic measurements, like FT, are merely able to measure the deformation of muscular diaphragmatic tissue in the transverse direction, while longitudinal measurements in the direction of contracting muscle fibres are not possible. Speckle tracking ultrasonography, which is widely used in cardiac imaging, overcomes this disadvantage and allows observations of movement in the direction of the contracting muscle fibres, approximating muscle deformation and the deformation velocity. Several studies have evaluated speckle tracking as a promising method to assess diaphragm contractility in healthy subjects. This technical note demonstrates the feasibility of speckle tracking ultrasonography of the diaphragm in a group of 20 patients after an aortocoronary bypass graft procedure. The results presented herein suggest that speckle tracking ultrasonography is able to depict alterations in diaphragmatic function after surgery better than 2D ultrasonographic measurements.