Methoden und Algorithmen der Kopplungsanalyse bei quantitativen Phänotypen

Motivation: Krankheiten beim Menschen werden zu einem großen Teil durch geneti- sche Varianten beeinflusst oder verursacht. Um den Krankheitsmechanismus zu ver- stehen und um Patienten ursächlich behandeln zu können, ist ein erster Schritt, die genetische Variante im menschlichen Genom zu lokali Methoden um ein mächtiges Verfahren zur genetischen Kartierung quantitativer Phänotypen erweitert. Da genehunter-qmod auf dem Lander-Green-Algorithmus basiert, können viele Marker gleichzeitig in die Kopplungsanalyse einbezogen werden. Darum eignet sich genehunter-qmod gut für die Anwendung in Genkartierungs- projekten mit diallelischen SNP-Markern, die weniger informativ sind als Mikrosatelliten und daher in größerer Zahl in die Analyse eingehen müssen. genehunter-qmod ist nicht kommerzielle Software und im Internet unter http://www.helmholtz-muenchen.de/genepi/downloads frei erhältlich

Automatic Analysis of Sewer Pipes Based on Unrolled Monocular Fisheye Images

The task of detecting and classifying damages in sewer pipes offers an important application area for computer vision algorithms. This paper describes a system, which is capable of accomplishing this task solely based on low quality and severely compressed fisheye images from a pipe inspection robot. Relying on robust image features, we estimate camera poses, model the image lighting, and exploit this information to generate high quality cylindrical unwraps of the pipes' surfaces.Based on the generated images, we apply semantic labeling based on deep convolutional neural networks to detect and classify defects as well as structural elements.Comment: Published in: 2018 IEEE Winter Conference on Applications of Computer Vision (WACV

Whom Should We Screen for Cushing Syndrome? The Endocrine Society Practice Guideline Recommendations 2008 Revisited

CONTEXT Cushing syndrome (CS) is a rare and serious disease with high mortality. Patients are often diagnosed late in the course of the disease. OBJECTIVE This work investigated whether defined patient populations should be screened outside the at-risk populations defined in current guidelines. METHODS As part of the prospective German Cushing registry, we studied 377 patients with suspected CS. The chief complaint for CS referral was documented. Using urinary free cortisol, late-night salivary cortisol, and the 1-mg dexamethasone suppression test as well as long-term clinical observation, CS was confirmed in 93 patients and ruled out for the remaining 284. RESULTS Patients were referred for 18 key symptoms, of which 5 were more common in patients with CS than in those in whom CS was ruled out: osteoporosis (8% vs 2%; P = .02), adrenal incidentaloma (17% vs 8%, P = 0.01), metabolic syndrome (11% vs 4%; P = .02), myopathy (10% vs 2%; P < .001), and presence of multiple symptoms (16% vs 1%; P < .001). Obesity was more common in patients in whom CS was ruled out (30% vs 4%, P < .001), but recent weight gain was prominent in those with CS. A total of 68 of 93 patients with CS (73%) had typical chief complaints, as did 106 of 284 of patients with ruled-out CS status (37%) according to the Endocrine Society practice guideline 2008. CONCLUSION The 2008 Endocrine Society Practice guideline for screening and diagnosis of CS defined at-risk populations that should undergo testing. These recommendations are still valid in 2022

Whom should we screen for Cushing syndrome? The Endocrine Society practice guideline recommendations 2008 revisited

CONTEXT: Cushing syndrome (CS) is a rare and serious disease with high mortality. Patients are often diagnosed late in the course of the disease. OBJECTIVE: This work investigated whether defined patient populations should be screened outside the at-risk populations defined in current guidelines. METHODS: As part of the prospective German Cushing registry, we studied 377 patients with suspected CS. The chief complaint for CS referral was documented. Using urinary free cortisol, late-night salivary cortisol, and the 1-mg dexamethasone suppression test as well as long-term clinical observation, CS was confirmed in 93 patients and ruled out for the remaining 284. RESULTS: Patients were referred for 18 key symptoms, of which 5 were more common in patients with CS than in those in whom CS was ruled out: osteoporosis (8% vs 2%; P = .02), adrenal incidentaloma (17% vs 8%, P = 0.01), metabolic syndrome (11% vs 4%; P = .02), myopathy (10% vs 2%; P < .001), and presence of multiple symptoms (16% vs 1%; P < .001). Obesity was more common in patients in whom CS was ruled out (30% vs 4%, P < .001), but recent weight gain was prominent in those with CS. A total of 68 of 93 patients with CS (73%) had typical chief complaints, as did 106 of 284 of patients with ruled-out CS status (37%) according to the Endocrine Society practice guideline 2008. CONCLUSION: The 2008 Endocrine Society Practice guideline for screening and diagnosis of CS defined at-risk populations that should undergo testing. These recommendations are still valid in 2022

Aktive Studierende - kompetenzorientierte Ausbildung: Fallbeispiele lernender Lehrender

Hohe studentische Aktivität ist ein Hauptanliegen der Bologna-Reform, die Kompetenzorientierung der Ausbildung ein anderes. Effektivem Beurteilen von studentischen Aktivitäten wie Vorträgen, mündlichen Examen und schriftlichen Produkten kommt somit eine besondere Bedeutung zu. Die Effekte der Benotungsmethode sollen sein: Es ist allen klar, welche Kompetenzen benotet werden und wie sie gestellt werden. Die Beurteilungsmethode soll schon im Voraus die methodische und fachliche Qualität der Arbeit stimulieren. Die Beurteilung soll mit allfälligen Begleitfunktionen nicht in Konflikt treten und für alle nachvollziehbar sein. Bei schriftlichen Arbeiten ist eine zuverlässige Selbstbeurteilung möglich. Anhand von Beispielen aus verschiedenen Fachbereichen wird der Gestaltungsspielraum deutlich, in dem sich die genannten Kriterien umsetzen lassen

Mutter – Kind – Modul in einer Abteilung für Psychiatrie und Psychotherapie an einem Klinikum der Maximalversorgung

Die gemeinsame stationäre Aufnahme einer psychiatrisch erkrankten Mutter mit ihrem Kleinkind wurde in Deutschland 1975 erstmals praktiziert. In Zentrum für psychische Gesundheit am Klinikum Ingolstadt werden seit Anfang 2005 regelmäßig Mütter gemeinsam mit ihren Kindern stationär behandelt. Die vorliegende Arbeit beschreibt Charakteristika der Inanspruchnahme und zeigt die Notwendigkeit dieses Angebotes

Parameter Estimation and Quantitative Parametric Linkage Analysis with GENEHUNTER-QMOD

Objective: We present a parametric method for linkage analysis of quantitative phenotypes. The method provides a test for linkage as well as an estimate of different phenotype parameters. We have implemented our new method in the program GENEHUNTER-QMOD and evaluated its properties by performing simulations. Methods: The phenotype is modeled as a normally distributed variable, with a separate distribution for each genotype. Parameter estimates are obtained by maximizing the LOD score over the normal distribution parameters with a gradient-based optimization called PGRAD method. Results: The PGRAD method has lower power to detect linkage than the variance components analysis (VCA) in case of a normal distribution and small pedigrees. However, it outperforms the VCA and Haseman-Elston regression for extended pedigrees, nonrandomly ascertained data and non-normally distributed phenotypes. Here, the higher power even goes along with conservativeness, while the VCA has an inflated type I error. Parameter estimation tends to underestimate residual variances but performs better for expectation values of the phenotype distributions. Conclusion: With GENEHUNTER-QMOD, a powerful new tool is provided to explicitly model quantitative phenotypes in the context of linkage analysis. It is freely available at http://www.helmholtz-muenchen.de/genepi/downloads. Copyright (C) 2012 S. Karger AG, Base

Survival analysis for AdVerse events with VarYing follow-up times (SAVVY) -- estimation of adverse event risks

The SAVVY project aims to improve the analyses of adverse event (AE) data in clinical trials through the use of survival techniques appropriately dealing with varying follow-up times and competing events (CEs). Although statistical methodologies have advanced, in AE analyses often the incidence proportion, the incidence density, or a non-parametric Kaplan-Meier estimator (KME) are used, which either ignore censoring or CEs. In an empirical study including randomized clinical trials from several sponsor organisations, these potential sources of bias are investigated. The main aim is to compare the estimators that are typically used in AE analysis to the Aalen-Johansen estimator (AJE) as the gold-standard. Here, one-sample findings are reported, while a companion paper considers consequences when comparing treatment groups. Estimators are compared with descriptive statistics, graphical displays and with a random effects meta-analysis. The influence of different factors on the size of the bias is investigated in a meta-regression. Comparisons are conducted at the maximum follow-up time and at earlier evaluation time points. CEs definition does not only include death before AE but also end of follow-up for AEs due to events possibly related to the disease course or the treatment. Ten sponsor organisations provided 17 trials including 186 types of AEs. The one minus KME was on average about 1.2-fold larger than the AJE. Leading forces influencing bias were the amount of censoring and of CEs. As a consequence, the average bias using the incidence proportion was less than 5%. Assuming constant hazards using incidence densities was hardly an issue provided that CEs were accounted for. There is a need to improve the guidelines of reporting risks of AEs so that the KME and the incidence proportion are replaced by the AJE with an appropriate definition of CEs