Optimierung der Effizienz molekulargenetischer Analysen angeborener Stoffwechselkrankheiten am Beispiel der Phenylketonurie

Durch die fortschreitende molekulargenetische Forschung etablieren sich im klinischen Alltag zunehmend genetische Parameter, die unmittelbar in die Diagnostik und Therapie einfließen. In der vorliegenden Arbeit werden die zur Identifikation der verursachenden Mutationen der Phenylketonurie angewandten molekulargenetischen Untersuchungsmethoden (DNA-Sequenzierung und SSCP-Analyse) im Hinblick auf ihre Effizienz und Wirtschaftlichkeit untersucht. Im Vergleich der Arbeitszeit, der anfallenden Kosten und der Validität der Verfahren zeigte sich eine Abhängigkeit der Verfahren von der zu untersuchenden Anzahl an Patienten. Bei einem Patientenpool mit weniger als 30 Probanden ist eine direkte DNA-Sequenzierung zu bevorzugen, während die SSCP-Analyse zum Screening auf Mutationen mit einer anschließenden gezielten DNA-Sequenzierung bei mehr als 30 Patienten einen Kostenvorteil erwirtschaftet. Darüber hinaus werden weitere Vorschläge für eine Optimierung von etablierten Verfahren gegeben

Development of a patient-oriented navigation model for patients with lung cancer and stroke in Germany

Background: The concept of patient navigation was first established in the USA to support vulnerable patient groups in receiving timely and comprehensive access to cancer care. It has recently gained increasing interest in Germany to support patients with chronic diseases in a fragmented healthcare system. The aim of this paper is to present the development of such a model adapted to the German context based on the results of mixed-methods studies investigating the need for and barriers to patient-oriented care. Methods: In a process adapted from Delphi rounds, we conducted regular structured workshops with investigators of the project to discuss results of their studies and identify content and structure of the model based on the data. Workshop discussions were structured along seven core components of a navigation model including target patient groups, navigator tasks, occupational background and education of navigators, and patient-navigator interaction mode. Results: Using an approach based on empirical data of current care practices with special focus on patients' perspectives, we developed a patient-oriented navigation model for patients who have experienced stroke and lung cancer in the German healthcare context. Patients without personal social support were viewed as struggling most with the healthcare system, as well as multimorbid and elderly patients. Navigators should serve as a longer-term contact person with a flexible contact mode and timing based on the individual situation and preferences of patients. Navigator tasks include the provision of administrative and organizational support as well as referral and guidance to available resources and beneficial health programs with special forms of knowledge. Implementation of the navigator should be flexibly located to ensure a reliable outreach to vulnerable patients for first contact in settings like specialized in-patient and out-patient settings, while navigation itself focuses on care coordination in the out-patient setting. Conclusion: Flexibility of navigator tasks needed to be a core characteristic of a navigation model to be perceived as supportive from patients' perspectives. In a subsequent feasibility study, an intervention based on the model will be evaluated according to its acceptance, demand, and practicality

Improving the Preoperative Diagnostic Accuracy of Acute Appendicitis. Can Fecal Calprotectin Be Helpful?

Is the patient really suffering from acute appendicitis? Right lower quadrant pain is the most common sign of acute appendicitis. However, many other bowels pathologies might mimic acute appendicitis. Due to fear of the consequences of delayed or missed diagnosis, the indication for emergency appendectomy is liberally made. This has been shown to be associated with high rates of negative appendectomy with risk of potentially serious or lethal complications. Thus there is need for a better preoperative screening of patients with suspected appendicitis.This prospective single center single-blinded pilot study was conducted in the Department of surgery at the HELIOS Universitätsklinikum Wuppertal, Germany. Calprotectin was measured in pre-therapeutic stool samples of patients presenting in the emergency department with pain to the right lower quadrant. Fecal calprotectin (FC) values were analyzed using commercially available ELISA kits. Cut-off values for FC were studied using the receiver-operator characteristic (ROC) curve. The Area under the curve (AUC) was reported for each ROC curve.The mean FC value was 51.4 ± 118.8 μg/g in patients with AA, 320.9 ± 416.6 μg/g in patients with infectious enteritis and 24.8 ± 27.4 μg/g in the control group. ROC curve showed a close to 80% specificity and sensitivity of FC for AA at a cut-off value of 51 μg/g, AUC = 0.7. The sensitivity of FC at this cut-off value is zero for enteritis with a specificity of 35%.Fecal calprotectin could be helpful in screening patients with pain to the right lower quadrant for the presence of acute appendicitis or infectious enteritis with the aim of facilitating clinical decision-making and reducing the rate of negative appendectomy

Advanced gallbladder inflammation is a risk factor for gallbladder perforation in patients with acute cholecystitis

Abstract Background Acute perforated cholecystitis (APC) is probably the most severe benign gallbladder pathology with high rates of morbidity and mortality. The cause of APC has not been fully understood. We postulated that APC is a complication of advanced gallbladder inflammation. The aim of this study was to investigate the extent of gallbladder inflammation in patients with APC. Methods Patients with intraoperative and histopathologic diagnosis of APC were compared with cases with acute cholecystitis without perforation with respect to the extent of inflammation on histopathology as well as surgical outcomes. Results Fifty patients with APC were compared to 150 cases without perforation. Advanced age > 65 years and elevated CRP were confirmed on multivariate analysis as independent risk factors for APC. Advanced gallbladder inflammation was seen significantly more often in patients with APC (84.0 vs. 18.7%). Surgery lasted significantly longer 131.3 ± 55.2 min vs. 100.4 ± 47.9 min; the rates of conversion (22 vs. 4%), morbidity (24 vs. 7%), and mortality (8 vs. 1%) were significantly higher in patients with APC. ICU management following surgery was needed significantly more often in the APC group (56 vs. 15%), and the overall length of stay (11.2 ± 12.0 days vs. 5.8 ± 6.5 days) was significantly longer compared to the group without perforation. Conclusion Acute gallbladder perforation in patients with acute cholecystitis represents the most severe complication of cholecystitis. Acute perforated cholecystitis is a sequela of advanced gallbladder inflammation like empyematous and gangrenous cholecystitis and is associated with poor outcome compared to non-perforated cases

Receiver operating characteristic (ROC) curve for WBC and CRP.

<p>Receiver operating characteristic (ROC) curve for WBC (AUC: 0.728, 95% CI: 0.473–0.983, p = 0.098) and CRP in prediction the presence of acute appendicitis (AUC: 0.316, 95% CI: 0.033–0.593, p = 0.181).</p

Negative control with specific anti calprotectin antibody.

<p>Negative reaction (no gold stain) following immunochemical staining.</p

Mean fecal calprotectin values.

<p>Mean fecal calprotectin values in the groups with appendicitis, infectious enteritis and healthy controls.</p

Photovoltaic-battery systems as irradiance sensors: first results of a prototype study

In view of the rapid growth of solar power installations worldwide, accurate forecasts of photovoltaic (PV) power generation are becoming increasingly indispensable for the overall stability of the electricity grid. In the context of household energy storage systems, PV power forecasts contribute towards intelligent energy management and control of PV-battery systems, in particular so that self-sufficiency and battery lifetime are maximised. Typical battery control algorithms require day-ahead forecasts of PV power generation, and in most cases a combination of statistical methods and numerical weather prediction (NWP) models are employed. The latter are however often inaccurate, both due to deficiencies in model physics as well as an insufficient description of irradiance variability