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Eickmeier O.,Goethe University Frankfurt | Smaczny C.,Goethe University Frankfurt | Gappa M.,Zentrum fur Kinder und Jugendliche | Hirche T.O.,Stiftung Deutsche Klinik fur Diagnostik GmbH | Wagner T.O.F.,Goethe University Frankfurt
Pneumologe | Year: 2013

The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 gave hope that a causal therapy of CF would soon be available. Scientists put a lot of effort into correcting the basic defect on gene level but so far there is still no therapy available in this field. However, new therapies are available on the basis of correcting the defect on protein level due to mutation-specific therapy. More than 1,900 mutations have been described and divided into different classes depending on whether there is a complete cessation of translation (so-called stop mutations) or other functional losses. With the approval of a first, specifically effective therapy for a certain class of mutations, individualized therapy has made its way into the clinical practice for CF. In addition, progress has been achieved in the development and approval of new symptomatic therapies. Apart from CFTR it has become very clear that most of the pulmonary manifestations of CF lung disease are also determined by modifying genes and environmental factors. Important advances have been made within the last decade by introducing European standards for patient care and development of research networks as well as national and European structures for clinical trials. Hence, the basis for a systematic reorganization of therapy in CF within the next decade has been established. © 2013 Springer-Verlag Berlin Heidelberg.

Jaursch-Hancke C.,Stiftung Deutsche Klinik fur Diagnostik GmbH
Austrian Journal of Clinical Endocrinology and Metabolism | Year: 2011

Androgen Deficieny in Women: When Does It Reach Clinical Relevance? In both men and women alike, androgens have an impact on musculature, distribution of fat, sexuality, general fitness, and well-being. Contrary to men, the symptoms of hypogonadism in women are less clearly defined and reliable surrogate parameters to determine androgen deficiency in women have not been established so far. The term "hypoactive sexualdesire disorder"(HSDD) has been accepted to define clinical symptoms. Confirmed androgen deficiencies are related to surgical menopause, panhypopituitarism, Addison's disease, natural menopause, and a number of drugs that cause androgen suppression. Testosterone replacement only makes sense in the presence of clinical symptoms (HSDD). Patients must be explicitly informed that androgen replacement is not a standard treatment and that long-term safety data are still missing. Provided that the indication has been clear-cut before therapy is initiated its outcome is often very convincing.

Prophylaxis of tumors of the prostate gland is theoretically simple but what makes it difficult is that no appropriate test methods are available. The topic of prostate cancer prophylaxis by dietary supplements remains difficult as there are still no really certain data. The psychological aspect of wanting and being able to actively contribute to success of a therapy oneself, is absolutely not an aspect to be ignored to accept such dietary supplements. There are also studies which show that a certain helpful effect seems to be present. From these considerations the question arises whether cancer prophylaxis could be developed from this. This article presents the state of the art in early 2014. © 2014, Springer-Verlag Berlin Heidelberg.

Wehrmann T.,Stiftung Deutsche Klinik fur Diagnostik GmbH
Endoskopie Heute | Year: 2012

Since the cause of achalasia is still unknown, all currently available therapies are palliative intended and gained to essentially weaken the lower esophageal sphincter (LES). Some drugs like nitrates and calcium antagonists are able to lower the LES-pressure, however, the symptomatic improvement obtained in patients with achalasia is low, so that this strategy is at best suitable for short-term bridging to other therapies. By local injection of botulinum toxin (BTX) in the gastric cardia, a profound reduction in the LES-pressure can be achieved. Symptomatic improvement lasts for several months (about 3-9 months), however, due to re-innervation a loss of efficacy occurs, which then makes repeated injections necessary. Therefore, this treatment is indicated mainly for patients with a reduced life expectancy and/or those with anatomic risk factors (e.g. large epiphrenic diverticulum). Pneumatic dilation (PD) of the cardia, however, leads to a longer-term response (>5-10 years) in about 50% of patients, in the remaining patients a symptomatic response can usually be achieved by subsequent re-dilations (overall symptomatic improvement can be expected in almost 85%). As positive predictors for a symptomatic response to PD an age>45 years, a LES-pressure reduction <15mmHg and/or an improved radiological esophageal clearance post-PD were identified. PD has a significant risk for esophageal perforation, which occurs in about 2-3% of cases. In randomized, controlled studies BTX injection was inferior to PD and surgical cardiomyotomy, while the efficacy of PD, in patients >40 years, was nearly equivalent to surgery. © Georg Thieme Verlag KG Stuttgart. New York.

Baurmann H.,Stiftung Deutsche Klinik fur Diagnostik GmbH | Bettelheim P.,St. Elisabethinen Krankenhaus | Diem H.,Wurmtallabor | Gassmann W.,St. Marien Krankenhaus Siegen | Nebe T.,Hamatologisches Speziallabor
LaboratoriumsMedizin | Year: 2011

The following recommendations for the differentiation of lymphatic cells in the blood film of adults have been developed by the working group for laboratory diagnostics of the German Society of Haematology and Oncology on behalf of the German and Austrian haematological societies. The nomenclature of lymphatic cells should be harmonised in Germany and Europe and should provide a practical approach on how to differentiate lymphatic cells. The basis of the new nomenclature is the upfront classification into inconspicuous or conspicuous lymphatic cells. In a second step, the conspicuous cells are further assigned to "atypical cells, suspect reactive" or "atypical cells, suspect neoplastic". The percentages of the resulting three-way division are integrated into the differential white count. If this assignment of conspicuous cells is impossible, they are called "atypical cells, uncertain nature" in a fourth category of "diverse cells". This category of "diverse cells" also contains cells which are only rarely or never present in the normal blood film or unclear cells. The assignment to the category "diverse" essentially requires a comment in the report describing these cells and a subsequent clarification of such findings. © 2011 by Walter de Gruyter Berlin Boston.

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