Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Whilst investigating 26 members of the same family, we discovered 5 cases of multiple endocrine neoplasia type II a. The present report demonstrates the diagnostic value of basal plasma thyrocalcitonin (TCT) assays, before and after stimulation with pentagastrin, and of plasma carcinoembryonic antigen (CEA) assays. Some of the clinical features encountered were novel--e.g. in one patient the phaeochromocytoma was revealed by a haemothorax with cardiovascular collapse--and others were peculiar; thus, in 4 cases the medullary thyroid carcinoma (MTC) was less than 2 cm in diameter and without lymph node or visceral metastases, even in patients aged 87, 59 and 56. More classically, MTC, always multifocal, was clinically silent, as were the two cases of phaeochromocytoma and hyperparathyroidism. Phaeochromocytomas were difficult to diagnose. Ultrasonic tomography did not prove very helpful and the disease was transmitted as an autosomal dominant trait. Finally, MTC secreted a variety of substances (TCT, CEA, beta-endorphin, somatostatin), and HLA A2-B15 antigens were found in 3 patients.
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PMID:[Hemothorax disclosing hemorrhagic necrosis of a pheochromocytoma: circumstance for detection of multiple endocrine neoplasia type IIa. Detection of 5 familial cases]. 287 8

Cushing's disease has come full cycle. As originally asserted more than 50 years ago, modern diagnostic techniques now demonstrate an adrenocorticotropic hormone (ACTH) secreting pituitary adenoma in approximately 80% of such patients. At this historical juncture, we report a long-term follow-up of our 17 patients who underwent adrenalectomy (8) or later adrenalectomy plus adrenal autotransplantation (9) between 1955 and 1976. Two patients died soon after surgery and five others died later of "natural" causes. Four others moved away but were stable when last contacted. Of the six patients who remain available for current follow-up, three have undergone hypophyseal surgery. Another patient has evidence of pituitary enlargement, and the remaining two are yet to undergo computerized tomography (CT) scan. Four illustrative cases are reviewed in some detail. One case presented with Nelson's syndrome and acute onset blindness. The second represented multiple endocrine adenomatosis with hyperparathyroidism in addition to Cushing's disease. The third exhibited Cushing's syndrome from the autotransplants, finally cured by hypophysectomy. The fourth exhibited huge ACTH levels from a large pituitary adenoma that could not be totally resected and recurrent Cushing's syndrome associated with large autotransplant "adenomas." The initial surgical treatment of choice is pituitary adenectomy. Bilateral adrenalectomy will remain useful where curative pituitary surgery is not feasible. Neither pituitary irradiation nor medical therapy has been truly effective in our patients. Adrenal autotransplants survive, to some extent, in virtually all patients. However, the degree of function is variable, and the full function may not be achieved for many months or even years. Functioning autotransplants have not prevented Nelson's syndrome, and they would appear to offer little practical benefit at this time.
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PMID:Cushing's disease today. Late follow-up of 17 adrenalectomy patients with emphasis on eight with adrenal autotransplants. 298 64

Point-of-care (POC) testing, which provides quick test results in near-patient settings with easy-to-use devices, has grown continually in recent decades. Among near-patient and on-site tests, rapid intraoperative and intra-procedural assays are used to quickly deliver critical information and thereby improve patient outcomes. Rapid intraoperative parathyroid hormone (ioPTH) monitoring measures postoperative reduction of parathyroid hormone (PTH) to predict surgical outcome in patients with primary hyperparathyroidism, and therefore contributes to the change of parathyroidectomy to a minimally invasive procedure. In this review, recent progress in applying ioPTH monitoring to patients with secondary and tertiary hyperparathyroidism and other testing areas is discussed. In-suite cortisol monitoring facilitates the use of adrenal vein sampling (AVS) for the differential diagnosis of primary aldosteronism and adrenocorticotropic hormone (ACTH)-independent Cushing syndrome. In clinical and psychological research settings, POC testing is also useful for rapidly assessing cortisol in plasma and saliva samples as a biomarker of stress. Careful resource utilization and coordination among stakeholders help to determine the best approach for implementing cost-effective POC testing. Technical advances in integrating appropriate biosensors with microfluidics-based devices hold promise for future real-time POC cortisol monitoring.
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PMID:Niche point-of-care endocrine testing - Reviews of intraoperative parathyroid hormone and cortisol monitoring. 2935 35