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Association Phéochromocytome et tumeur du pancréas endocrine: d’un MEN mixte à la maladie de von Hippel-Lindau
2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer
Twenty-five percent of medullary thyroid cancers (MTC) are familial and inherited as an autosomal dominant trait. Three different phenotypes can be distinguished: multiple endocrine neoplasia (MEN) types 2A and 2B, in which the MTC is associated with other endocrine neoplasias, and familial MTC (FMTC), which occurs in isolation. The discovery that germline RET oncogene activating mutations are associated with 95-98% of MEN 2/FMTC syndromes and the availability of genotyping to identify mutations in affected patients and their relatives has revolutionized the diagnostic and therapeutic strategies available for the management of these patients. All patients with MTC, both those with a positive familial history and those apparently sporadic, should be submitted to RET genetic screening. Once an RET mutation has been confirmed in an index patient, first-degree relatives should be screened rapidly to identify the 50% who inherited the mutation and are therefore at risk for development of MTC. Relatives in whom no RET mutation is identified can be reassured and discharged from further follow-up, whereas RET-positive subjects (i.e. gene carriers) must be investigated and a therapeutic strategy initiated. These guideline recommendations are derived from the most recent studies identifying phenotype-genotype correlations following the discovery of causative RET gene mutations in MEN 2 eighteen years ago. Three major points will be discussed: (a) identification of patients and relatives who should have genetic screening for RET mutations, (b) management of asymptomatic gene carriers, and (c) ethics
2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer.
latent subclinical medullary thyroid carcinoma: diagnosis and treatment
Sporadic medullary thyroid carcinoma (SMTC) is usually
diagnosed at a clinical stage often associated with lymph node involvement.
Hence surgical treatment does not result in definitive cure in many patients. Studies have demonstrated that routine measurement of serum basal calcitonin (CT) in patients with nodular thyroid disease allows preoperative, early diagnosis of unsuspected SMTC. The aim of this work was to assess the results of surgery in patients operated on for subclinical
SMTC detected preoperatively by measurement of serum CT. Results were compared with those obtained in patients with SMTCs diagnosed at a clinical stage and operated on during the same period. During a 4-year period (1993–1996) 24 SMTCs were diagnosed and treated in our department. They were diagnosed at a clinical stage in 13 patients (group
1): palpable thyroid tumor (n 5 11), palpable metastatic lymph node (n 5 6), distant metastases (n 5 4). In nine cases the diagnosis was made by both fine-needle aspiration cytology and serum CT measurement. In the four other cases the initial cytology was incorrect, but the diagnosis was
revised on the basis of elevated basal CT values. In 11 patients (group 2) presenting with nodular thyroid disease, SMTC was not clinically detectable.
SMTC was preoperatively suspected by elevated CT levels: basal CT > 10 pg/ml and pentagastrin-stimulated CT peak > 100 pg/ml. One patient in group 1 with distant metastases was not operated on. All of the other 12 patients underwent total thyroidectomy and extensive lymph node dissection. The mean size of the tumors was 27 mm. Lymph node
involvement was found in nine patients. After surgery, CT levels returned to normal in five patients but remained elevated in five others; the two remaining patients died of distant metastases. All 11 patients in group 2 underwent total thyroidectomy and central neck dissection. None of the 11
patients had nodal extension. All 11 patients are biochemically cured. It was concluded that routine measurement of basal serum CT in those with nodular thyroid disease allows early, preoperative diagnosis of subclinical SMTC and improves the results of surgery
Early diagnosis of sporadic medullary thyroid carcinomas by routine measurement of serum calcitonin levels
Diagnostic précoce des cancers médullaires de la thyroïde: intérêt du dosage systématique de la calcitonine
Role of endogenous somatostatin in the GH response to exogenous GHRH.
A study performed in awake rams undergoing hypophysial portal blood sampling to assess the changes in SRIF occurring upon GHRH acute administratio
Effect of tianeptine on the hypothalamic control of the corticotropic response to stress
Evaluation of the effect of tianeptine on CRF release in the sheep
Relationship between hypophyseal portal GHRH and somatostatin and peripheral GH levels in the conscious sheep.
The mechanisms involved in the genesis of pulsatile GH secretion are not well understood. Recently, methods for hypophyseal portal blood collection in conscious sheep became available. Using this method, GHRH and SRIH secretion into hypophyseal portal blood (HPB) and GH release from the pituitary gland were simultaneous assessed and the relationship between GHRH and SRIH changes in HPB and GH in peripheral blood was investigated. In 23 rams (9-11 month old, 35-45 kg bw), 126 hours of HPB were analysed. Fifty-four spontaneous GH peaks were detected. The majority of GH peaks (48.1%) was associated with an increased portal GHRH and a fall in somatostatin concentrations. A simultaneous increase in GHRH and somatostatin levels was observed in 18.5% of GH peaks while 12.9% of peaks occurred with a fall in SRIH and no modification in GHRH concentrations. Finally, 5/54 (9.3%) GH peaks occurred without any modification in portal GHRH and SRIH release. Our data indicate that the GHRH/SRIH interplay is complex. The occurrence of spontaneous GH peaks may be due not only to a coordinate increase in GHRH and reduction in SRIH release similar to male rat, but also to other patterns of GHRH/SRIH secretion
Mode d'action des sulfamides hypoglycemiants. [Mode of action of hypoglycemic sulfanilamides]
Sulfonylureas act as hypoglycemic agents by stimulating insulin secretion and improving insulin sensibility by a post-receptor mechanism. Their long term results mainly depend on extra-pancreatic mechanisms. Moreover they indirectly decrease triglyceridemia. Glipizide and gliclazide enhance fibrinolysis. Gliclazide also inhibits platelet aggregation and adhesion. The best indication of sulfonylureas is non insulin dependent diabetes with normal weight
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