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Bidlingmaier M.,Ludwig Maximilians University of Munich | Hauffa B.P.,University of Duisburg - Essen | Trainer P.J.,Christie Hospital | Etzrodt-Walter G.,Endokrinologische Gemeinschaftspraxis | And 6 more authors.
LaboratoriumsMedizin | Year: 2016

Reliable laboratory analysis is fundamental to diagnostics, therapy, and follow-up of growth disturbance and secretory dysfunction of growth hormone (GH) and insulin-like growth factor I (IGF-I). Currently available commercial assays have their limitations, as they show large variations in hormone concentrations measured. Methods: The recommendations of an expert workshop with practicing endocrinologists from the fields of pediatrics and internal medicine and with laboratory physicians, with reference to the outcome of the interdisciplinary consensus conference in Keswick (Virginia, USA) in 2009, were used. Results: Among the quality criteria stipulated by the workshop participants are the use of uniform reference standards, documentation of analytical conditions (such as calibrators, binding epitopes, cross-reactivity, and methods for removal from the binding protein), batch-to-batch consistency, and low inter-assay variability. The participants recommended developing assay-specific thresholds and reference intervals based on large and well-defined reference populations. It is furthermore recommended to delineate the assay quality, particularly with reference to clinically important cutoffs. Conclusions: The manufacturers of diagnostic assays should be obliged to regularly monitor and report the implementation of quality criteria. Only assays that are evaluated according to uniform quality standards and that are employed clinically permit informed diagnostic and therapy of patients with GH secretory dysfunction, preventing avoidable burden on both patients and paying authorities. © 2016 by De Gruyter. Source


Raue F.,Endocrine Practice | Frank-Raue K.,Endokrinologische Gemeinschaftspraxis
Familial Cancer | Year: 2010

Multiple endocrine neoplasia type 2 (MEN2) is a autosomal dominat inherited tumour-syndrome caused by germline activating mutations of the RET proto-oncogene on chromosome 10. It is clinically characterized by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient. Three distinct clinical forms have been described depending on the phenotype: the classical MEN 2A, MEN 2B, an association of MTC, pheochromocytoma and mucosal neuroma, (FMTC) familial MTC with a low incidence of other endocrinopathies. Each variant of MEN2 results from different RET gene mutation, with a good genotype phenotype correlation. Genetic testing detects nearly 100% of mutation carriers and is considered the standard of care for all first degree relatives of patients with newly diagnosed MTC. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on a classification into four risk levels utilizing the genotype-phenotype correlations. MEN 2 gives a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers. © Springer Science+Business Media B.V. 2010. Source


Thomas A.,Medtronic GmbH | Tsioli C.,Auf der Bult | Kolassa R.,Diabetologische Schwerpunktpraxis | Danne T.,Auf der Bult | And 17 more authors.
Diabetes, Stoffwechsel und Herz | Year: 2014

Continuous glucose monitoring (CGM) provides a comprehensive insight into metabolic regulation. Unlike self-measurement of blood glucose (SMBG), CGM reveals not only glucose values but also trends. Patients benefit from CGM by being able to plan their activities in self-management with a constant supply of current information on their glucose levels that also benefit diabetes teams with the data available for download using specialised software. Interpreting the data towards optimising diabetes therapy poses a challenge. Like retrospective analysis of SMBG data for therapy adjustment, fast and reliable interpretation of CGM data depends on the experience of the person viewing and interpreting the data, and a target-oriented procedure would be important in ensuring rapid results for experienced and inexperienced diabetes professionals alike. The RANSuP observational study involved the development of such a procedure, and the results are presented here with focus on the possibility of rapid, targeted data interpretation. Source


Raue F.,Endokrinologische Gemeinschaftspraxis | Frank-Raue K.,Endokrinologische Gemeinschaftspraxis
Recent Results in Cancer Research | Year: 2015

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from the thyroid C cells producing mainly calcitonin (CTN) used as tumor marker. MTC occurs either sporadic (75 %) or in a hereditary form (multipleendocrine neoplasia type 2, MEN2), due to germline mutations in the RET proto-oncogene. The discovery of an MTC in a patient has several diagnostic implications involving a specific strategy: preoperative evaluation of the tumor marker CTN and the extent of the disease, classification of MTC as sporadic or hereditary by DNA testing, and screening for associated endocrinopathies in hereditary MTC. Elevated CTN is a highly sensitive and specific tumor marker for diagnosis and follow-up of MTC. CTN is directly related to the tumor mass. In patients with nodular thyroid disease, diagnosis of MTC could be made by CTN determination as an indicator of tumor burden in conjunction with fine-needle aspiration. Patients with confirmed sporadic or hereditary MTC should have a total thyroidectomy and depending on the preoperative CTN value and the extent of disease additional dissection of the lymph nodes in the central and lateral neck compartment. In MEN 2 patients diagnosed by screening, the time of prophylactic thyroidectomy depends on RET mutation and CTN level. © Springer International Publishing Switzerland 2015. Source

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