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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.


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.


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.


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.


PubMed | Endokrinologische Gemeinschaftspraxis
Type: | Journal: Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer | 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 (multiple endocrine 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.


PubMed | Endokrinologische Gemeinschaftspraxis
Type: | Journal: Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer | Year: 2015

During the last two decades, there has been a marked expansion of our knowledge of both the basic and clinical aspects of multiple endocrine neoplasia type 2 (MEN2). There are two clinically distinct types of MEN2 syndrome, termed MEN2A and MEN2B. Within MEN2A, there are four variants: (i) classical MEN2A, represented by the uniform presence of MTC and the less frequent occurrence of pheochromocytoma, or primary hyperparathyroidism, or both; (ii) MEN2A with cutaneous lichen amyloidosis; (iii) MEN2A with Hirschsprungs disease; and (iv) familial medullary thyroid carcinoma (FMTC), i.e., families or individuals with only MTC. MEN2B is associated with MTC, pheochromocytoma, and mucosal neuromas. Hereditary MTC is caused by autosomal dominant gain of function mutations in the RET proto-oncogene. Specific RET mutations may suggest a predilection toward a particular phenotype and clinical course with a strong genotype-phenotype correlation. Based upon these genotype-phenotype correlations, RET mutations are now stratified into three risk levels, i.e., highest, high, and moderate risk, based on the penetrance and aggressiveness of the MTC. Children in the highest risk category should undergo thyroidectomy in their first year of life, and perhaps even in their first months of life. Children in the high-risk category should have ultrasound of the neck and calcitonin (CTN) measurement performed prior to thyroidectomy. Thyroidectomy should typically be performed at the age of 5 or earlier, depending on the presence of elevated serum CTN levels. However, heterogeneity in disease expression and progression within these groups varies considerably. To personalize disease management, the decision regarding the age of prophylactic thyroidectomy is no longer based upon genotype alone but is currently driven by additional clinical data, the most important being serum CTN levels; specifically, the decision to perform thyroidectomy should err on the safe side if the CTN level is elevated but below 30pg/ml, especially in the moderate risk group. Personalized management also includes decisions about the best age to begin biochemical screening for pheochromocytoma and primary hyperparathyroidism.


PubMed | Endokrinologische Gemeinschaftspraxis
Type: | Journal: Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer | Year: 2015

After surgery, patients with medullary thyroid carcinoma (MTC) should be assessed regarding the presence of residual disease, the localization of metastases, and the identification of progressive disease. Postoperatively, patients with MTC are staged to separate those at low risk from those at high risk of recurrence. The TNM staging system is based on tumor size, extra-thyroidal invasion, nodal metastasis, and distant spread of cancer. In addition, the number of lymph-node metastases, the number of compartments involved, and the postoperative calcitonin (CTN) and carcinoembryonic antigen (CEA) levels should be documented. The postoperative normalization of the serum CTN level is associated with a favorable outcome. When patients have basal serum CTN levels less than 150pg/ml after a thyroidectomy, any persistent or recurrent disease is nearly always confined to lymph nodes in the neck. When the postoperative serum CTN level exceeds 150pg/ml, patients should be evaluated with imaging procedures, including computed tomography (CT) of the neck and chest, contrast-enhanced magnetic resonance imaging (MRI) and ultrasound (US) of the liver, bone scintigraphy, MRI of the bone, and positron emission tomography (PET)/CT. One can estimate the growth rate of MTC metastases by quantifying increases in tumor size over time from sequential imaging studies analyzed with response evaluation criteria in solid tumors (RECIST), and by determining the tumor marker doubling time from sequential measures of serum CTN or CEA levels over multiple time points. One of the main challenges remains to find effective adjuvant and palliative options for patients with metastatic disease. Patients with persistent or recurrent MTC localized to the neck following thyroidectomy are candidates for neck operations, depending on the tumor extension. Once metastases appear, the clinician must decide which patients require therapy. This requires a balance between the (often) slow rate of tumor progression, which is associated with a good quality of life, and the limited efficacy and potential toxicities of local and systemic therapies. Considering that metastatic MTC is incurable, the management goals are to provide loco-regional disease control, palliate symptoms of hormonal excess, such as diarrhea, palliate symptomatic metastases, like pain or bone fracture, and control metastases that threaten life, such as bronchial obstruction or spinal cord compression. This can be achieved with palliative surgery, external beam radiation therapy (EBRT), or systemic therapy with tyrosine kinase inhibitor (TKI).

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