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Many eye diseases have a genetic basis, and most can be caused by mutations in many different genes (extensive genetic heterogeneity). The retinal dystrophies are a good example: More than 200 genes have been identified for the isolated forms (Leber's congenital amaurosis, retinitis pigmentosa, cone-rod dystrophy, congenital stationary night blindness), and for syndromes that comprise additional dysfunctions or malformations of extraocular tissues and organs. Selecting genes for diagnostic testing has been difficult, and their analysis with the hitherto predominant DNA sequencing method (Sanger sequencing) has been extremely laborious: The phenotype rarely indicates the affected gene, and the contributions of the particular genes to the disease (e.g., to LCA) were largely unknown. Consequently, comprehensive genetic analyses were impossible in most cases. In the recent years, high-throughput sequencing technologies, summarized as next-generation sequencing (NGS), have revolutionized genetic research and, subsequently, genetic diagnostics. The latter has far-reaching implications for the individual management of patients with genetic eye diseases and their families. © Georg Thieme Verlag KG Stuttgart.New York.


Stormer M.,Universitatsklinikum Cologne | Vollmer T.,Ruhr University Bochum
Transfusion Medicine and Hemotherapy | Year: 2014

Bacterial contamination of blood components and the prevention of transfusion-associated bacterial infection still remains a major challenge in transfusion medicine. Over the past few decades, a significant reduction in the transmission of viral infections has been achieved due to the introduction of mandatory virus screening. Platelet concentrates (PCs) represent one of the highest risks for bacterial infection. This is due to the required storage conditions for PCs in gas-permeable containers at room temperature with constant agitation, which support bacterial proliferation from low contamination levels to high titers. In contrast to virus screening, since 1997 in Germany bacterial testing of PCs is only performed as a routine quality control or, since 2008, to prolong the shelf life to 5 days. In general, bacterial screening of PCs by cultivation methods is implemented by the various blood services. Although these culturing systems will remain the gold standard, the significance of rapid methods for screening for bacterial contamination has increased over the last few years. These new methods provide powerful tools for increasing the bacterial safety of blood components. This article summarizes the course of policies and provisions introduced to increase bacterial safety of blood components in Germany. Furthermore, we give an overview of the different diagnostic methods for bacterial screening of PCs and their current applicability in routine screening processes. © 2014 S. Karger GmbH, Freiburg.


Madea B.,Universitatsklinikum Bonn | Rothschild M.,Universitatsklinikum Cologne
Deutsches Arzteblatt | Year: 2010

Background: The post mortem external examination is the final service that a physician can render to a patient. Its purpose is not just to establish medical diagnoses, but to provide facts in the service of the judicial process and the public interest. Its main tasks are the definitive ascertainment of death, determination of the cause of death and assessment of the manner of death. Methods: Selective search and review of relevant literature on cause-of- death statistics, judicial principles, and the performance of the post mortem examination, with emphasis on determination of the cause and manner of death. Results and discussion: An important duty of the physician performing the post mortem external examination is to know the patient's history. Thus, in principle, the treating physician is the most suitable person to perform the post mortem examination. In most cases of death (perhaps 60% to 70%), the treating physician will be able to give reliable information on the patient's underlying illnesses and the cause of death, based on the patient's history and circumstances at the time of death. Problems arise when death is unexpected and the post mortem external examination alone does not suffice to establish the cause of death. If the cause of death cannot be determined, this fact should be documented, and the manner of death should likewise be documented as undetermined. The autopsy rate in Germany is less than 5% of all deaths, which is very low.


Wardelmann E.,Universitatsklinikum Cologne
Der Pathologe | Year: 2012

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors in the digestive tract. In up to 90% of cases, they are characterized by activating mutations in the KIT or the PDGFRA gene. GIST represent a paradigm for successful targeted treatment with tyrosine kinase inhibitors (TKI). Since the approval of the TKI imatinib in 2002 the survival of patients with metastatic GIST has tripled. The next logical step was the concept of using imatinib in an adjuvant approach, which was recently shown to increase overall survival significantly. In both settings, the mutational status has high predictive implications. In detail, GIST with KIT exon 11 mutations show the best response rates with partial remission rates of up to 80%. In KIT exon 9 mutations, a doubled daily dose of 800 mg imatinib is now standard. The PDGFRA exon 18 mutation D842V has been shown to lead to primary resistance. The treatment strategy in GIST is driven by their molecular characterisation. Further research has increased our knowledge on resistance mechanisms in solid tumors against TKI. The number of patients with secondary resistance due to acquired KIT mutations is increasing with treatment duration. Strategies to address this situation are the introduction of novel pathway inhibitors targeting different levels of signal transduction pathways, such as the mTOR/Akt pathway, the RAS/RAF pathway, histone deacetylation, among others. Among the GIST without mutations in the common hot spot regions of KIT and PDGFRA, the so-called wildtype GIST, further genomic subgroups have been identified. One such subgroup carries inactivating germline mutations in the genes encoding succinate dehydrogenase B, C, or D. They are associated with the occurrence of paragangliomas, so-called Carney-Stratakis syndrome. Most frequently, these GIST are located in the stomach, showing an epithelioid phenotype and a multinodular growth pattern. They preferentially occur in young females and often show lymph node metastases, the latter being very unusual in sporadic GIST. In sporadic Carney's triad additional pulmonary chondromas are observed and there are no SDH mutations. Another small subgroup of sporadic GIST present with BRAF mutations as an alternative genomic event. Finally, very rare kindreds with germline mutations in either KIT or PDGFRA have been described who develop multiple GIST and depending on the mutational subtype mastocytosis, hyperpigmentation and/or dysphagia. In summary, the molecular characterisation of GIST has revolutionized their treatment due to increasing knowledge about the high relevance of predictive molecular typing in solid tumors.


Michel de Montaigne (1533–1592) was the most important representative of French Humanism in the sixteenth century. Fragmentarily scattered throughout his “essais” and in chronological order in the diary of his spa journeys to Italy, he extensively describes his suffering from kidney stones, which accompanied him from the age of 45 years up to his death. This urological self-report achieves additional weight due to the extraordinary personality of the patient, who reflects on his urolithiasis and the effect on his own life not only from a subjective viewpoint but also makes his disease experience a starting point for critical thoughts on the value and limitations of the medical possibilities in his epoch. With a clear knowledge of the difficulty of medical practice, he postulates a rational approach supported by experience. Particularly interesting is Montaigne’s stance towards contemporary physicians. He sees the benefits of physician consultations for himself and for patients generally, as being rarely substantiated but, despite sometimes strong antimedical invectives, accuses the doctors themselves less than the, although rationally structured but still mostly speculative, medical teaching structure influenced by Hippocrates and Galenism. © 2015, Springer-Verlag Berlin Heidelberg.


Despite the use of biologics many patients do not achieve remission or reduced disease activity, which raises the question of the optimal therapy when these therapy targets are not achieved. Most data from clinical studies and registry data refer to the approach following the unsuccessful use of one or more tumor necrosis factor (TNF) inhibitors. Randomized controlled studies investigating the effectiveness of a further biologic or TNF inhibitor in patients who received abatacept, tocilizumab or rituximab in the first line therapy are currently lacking, with the exception of the German MIRAI study. The majority of registry data and observational studies suggest that when the use of a TNF inhibitor is unsuccessful it is advantageous to change to a non-TNF biologic. This does not exclude that a change within the group of TNF inhibitors can represent an appropriate option, e.g. by injection or infusion reactions or secondary therapy failure. Whether determination of serum levels and neutralizing antibodies aids decision-making for individual patients, must currently remain open. The option to change within an active ingredient group of biologics only currently applies to the group of TNF inhibitors; however, with the development of further antibodies inhibiting interleukin 6, this question will also apply to this group of substances. The question of the optimal strategy after failure of the first and second line biologics will be asked more frequently when the therapy targets of remission and low disease activity are more stringently strived for. Predictive markers for an optimal approach to the sequential administration of biologics are lacking. In order to answer this question clinical studies which investigate the therapeutic approach in a randomized and controlled manner will be necessary in the future. © 2015, Springer-Verlag Berlin Heidelberg.


Hopf J.C.,Chirurgische Klinik | Berger V.,Chirurgische Klinik | Krieglstein C.F.,Chirurgische Klinik | Muller L.P.,Universitatsklinikum Cologne | Koslowsky T.C.,Chirurgische Klinik
Journal of Shoulder and Elbow Surgery | Year: 2015

Background: The aim of this study was to provide subjective and objective results of surgical treatment of unstable elbow dislocations with the hinged external fixation technique. Methods: Twenty-six patients were available for re-examination after treatment. Parameters used to quantify the subjective functional results were the Mayo Elbow Performance Score, the shortened Disabilities of the Arm, Shoulder, and Hand questionnaire, and the stability of the elbow joint. In addition, we measured the medial and lateral joint space by varus and valgus stress ultrasound examinations of the elbow. Results: The mean Mayo Elbow Performance Score was 93.5 (±8.3 standard deviation), and the shortened Disabilities of the Arm, Shoulder, and Hand questionnaire showed an average of 7.3 points (±8.9 standard deviation). We saw 18 patients with stable joints and 8 patients with slight instability. In the ultrasound stress test, we saw a significant difference of the affected joint under varus stress (7.8±1.7mm) compared with the healthy joint (5.8±1.2mm) laterally. Furthermore, medially the gap was significantly larger (4.8±0.9mm; treated elbow) than contralaterally under valgus stress (3.3±0.7mm) (. P<.001). Conclusion: Closed reduction and hinged external fixation of unstable elbow dislocations resulted in good and very good results. We could identify a slight difference in the stability of the affected elbow compared with the contralateral side in all patients without clinical relevance. © 2015 Journal of Shoulder and Elbow Surgery Board of Trustees.


Reorganization of health care according to economic principles in Germany after introduction of a flat rate reimbursement for in-patients by diagnosis-related groups (DRGs) implies a more cost-efficient patient care. Optimal and complete coding of ICD-10 diagnosis and procedure codes according to OPS301 are just one essential aspect. A comparison of clinic internal costs and revenues, identification and elimination of cost drivers, modelling of reimbursement alternatives, but especially integration of information about costs and revenues at the level of resource decision, the physicians, as well as joint decision-making on rules for high quality of care at lower costs, is a new as yet insufficiently used approach. An expert for coding and reimbursement in a gynecology clinic is an optimizer of system and interfaces and can actively use medical as well as operative and strategic controlling to steer and shape these processes on-site. © 2010 Springer-Verlag.


Gnant M.,Medical University of Vienna | Harbeck N.,Universitatsklinikum Cologne | Thomssen C.,Martin Luther University of Halle Wittenberg
Breast Care | Year: 2011

The 2011 St. Gallen Consensus Conference on early breast cancer provided mostly evidence-based treatment recommendations with a broad spectrum of acceptable clinical practice for global breast cancer care. This report summarizes the results of the 2011 international panel voting procedures with regard to locoregional and endocrine treatment, chemotherapy, targeted therapy as well as adjuvant bisphosphonate use. Copyright © 2011 S. Karger AG, Basel.


Heindl L.M.,Universitatsklinikum Cologne | Cursiefen C.,Universitatsklinikum Cologne
Klinische Monatsblatter fur Augenheilkunde | Year: 2012

Background: Penetrating keratoplasty is at present the gold standard for corneal transplantation, but tremendous progress has been made in recent years in improving lamellar keratoplasty techniques, such as deep anterior lamellar keratoplasty (DALK) and Descemet membrane endothelial keratoplasty (DMEK). The purpose of this report is to describe split-cornea transplantation by combining DALK and DMEK as a novel concept to reduce donor shortage. Methods: The study consists of a PUBMED literature review and our own clinical results. Results: Splitting of a single donor cornea into an anterior part (including epithelium, its basement membrane, Bowman layer, and stroma) for use in a DALK procedure in a patient with anterior-stromal disease (e. g., keratoconus) and into a posterior part (endothelium-Descemet membrane layer) for use in a DMEK procedure in a patient with endothelial disease (e. g., Fuchs endothelial dystrophy) can reduce the need for corneal donor tissue by around 50 %. A short-term 6-months follow-up has revealed good visual and refractive outcomes with low complication rates and acceptable endothelial cell loss. Conclusion: Split-cornea transplantation by combining DALK and DMEK surgeries is a promising concept to reduce donor shortage in corneal transplantation surgery in the future. © Georg Thieme Verlag KG Stuttgart New York.

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