نتایج جستجو برای: myxoma carney complex multiple endocrine neoplasia
تعداد نتایج: 1529822 فیلتر نتایج به سال:
A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase...
Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often due to ectopic ACTH-secreting neuroendocrine neoplasms or ACTH-independent adrenal cortisol hypersecretion. CS is a serious chronic disease leading to a several-fold increase in cardiovascular...
PURPOSE Cardiac myxomas are rare benign tumors of the heart. Although most cases are sporadic, rare familial occurrence has been described. The aim of this study was to evaluate tumor involvement in family members of patients with cardiac myxoma and to compare familial vs nonfamilial cardiac myxoma in relation to age, sex, site and multichamber involvement, endocrine abnormality, embolism, pres...
Carney complex (CNC) is a hereditary disease associating cardiac myxoma, spotty skin pigmentation and endocrine overactivity. CNC is caused by inactivating mutations in the PRKAR1A gene encoding PKA type I alpha regulatory subunit (RIα). Although PKA activity is enhanced in CNC, the mechanisms linking PKA dysregulation to endocrine tumorigenesis are poorly understood. In this study, we used För...
An adult woman 43 years old, with Multiple Endocrine Neoplasia type 2A (MEN2A). Clinical diagnosis of MEN2A was made based on the chief complaints of abdominal pain and a lump in the front left side area of neck accompanied with weight loss, from laboratory examination revealed an increased level of plasma levels of calcitonin levels with the result of 6359 pg/ml and 24 hours metanephrine urine...
Combined clinical and laboratory investigations of MEN-1 have resulted in an increased understanding of this disorder, which may be inherited as an autosomal dominant condition. Defining the features of each disease manifestation in MEN-1 has improved patient management and treatment and has facilitated a screening protocol. Application of the techniques of molecular biology has enabled the ide...
This is the second special supplement published by CLINICS, following hard upon the heels of our issue on Neural and Behavioral aspects of the human mind (1-8). It is dedicated to the theme of multiple endocrine neoplasias (MENs) types 1 and 2, and we believe, it is especially valuable because we have collected the views of several well-known specialists in this highly specific field from 12 di...
From January 1954 to December 1985 cardiac myxoma was diagnosed in 75 patients at the Mayo Clinic. The clinical presentation was typical in 70 cases and was referred to as "sporadic myxoma". Forty four other cases of cardiac myxomas (five from the Mayo Clinic) presented with a combination of distinctive clinical features and these cases are described as "syndrome myxoma". The patients with synd...
Multiple endocrine neoplasia-1 (MEN-1) is an autosomal dominant inherited syndrome that occurs due to inactivating mutations of the MEN1 gene locus, coding for a tumor-suppressor protein, menin. The components of MEN-1 are hyperparathyroidism due to multiple parathyroid adenomas, pancreatic neuroendocrine tumors, and pituitary adenomas, in addition to some less common neoplastic manifestations....
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید