- Laparoskopische retroperitoneale Adrenalektomie. [Journal Article]
- AUAktuelle Urol 2016; 47(6):497-507
- Rapid control of severe neoplastic hypercortisolism with metyrapone and ketoconazole. [Journal Article]
- EJEur J Endocrinol 2015; 172(4):473-81
- CONCLUSIONS: Metyrapone-ketoconazole combination therapy is well tolerated and provides rapid control of endocrine cancer-related life-threatening hypercortisolism.
- An update on novel mechanisms of primary aldosteronism. [Review]
- JEJ Endocrinol 2015; 224(2):R63-77
- Primary aldosteronism (PA) is the most common and curable form of secondary hypertension. It is caused in the majority of cases by either unilateral aldosterone overproduction due to an aldosterone-p...
Primary aldosteronism (PA) is the most common and curable form of secondary hypertension. It is caused in the majority of cases by either unilateral aldosterone overproduction due to an aldosterone-producing adenoma (APA) or by bilateral adrenal hyperplasia. Recent advances in genome technology have allowed researchers to unravel part of the genetic abnormalities underlying the development of APA and familial hyperaldosteronism. Recurrent somatic mutations in genes coding for ion channels (KCNJ5 and CACNA1D) and ATPases (ATP1A1 and ATP2B3) regulating intracellular ionic homeostasis and cell membrane potential have been identified in APA. Similar germline mutations of KCNJ5 were identified in a severe familial form of PA, familial hyperaldosteronism type 3 (FH3), whereas de novo germline CACNA1D mutations were found in two cases of hyperaldosteronism associated with a complex neurological disorder. These results have allowed a pathophysiological model of APA development to be established. This model involves modifications in intracellular ionic homeostasis and membrane potential, accounting for ∼50% of all tumors, associated with specific gender differences and severity of PA. In this review, we describe the different genetic abnormalities associated with PA and discuss the mechanisms whereby they lead to increased aldosterone production and cell proliferation. We also address some of the foreseeable consequences that genetic knowledge may contribute to improve diagnosis and patient care.
- Ectopic cushing in a patient with medullary thyroid carcinoma: hypercortisolism control and tumor reduction with Sunitinib. [Case Reports]
- EEndocrine 2015; 49(1):290-2
- Purkinje cell cytoplasmic antibody type 1 (anti-Yo) autoimmunity in a child with Down syndrome. [Case Reports]
- JNJAMA Neurol 2014; 71(3):347-9
- CONCLUSIONS: Solid organ neoplasms are uncommon among patients with Down syndrome, but organ-specific autoimmune diseases are common. In our patient, Down syndrome-related impaired T regulatory lymphocyte function (previously reported) may have resulted in both enhanced immunity against an undetected solid neoplasm and paraneoplastic neurological (PCA-1) autoimmunity.
- Lower expression of the TWIK-related acid-sensitive K+ channel 2 (TASK-2) gene is a hallmark of aldosterone-producing adenoma causing human primary aldosteronism. [Journal Article]
- JCJ Clin Endocrinol Metab 2014; 99(4):E674-82
- CONCLUSIONS: The TASK-2 channel lower expression represents a hallmark of APA and is associated with a higher expression of hsa-miR-23 and hsa-miR-34. The ensuing blunted TASK-2 activity increased the production of aldosterone in vitro and the expression of steroidogenic acute regulatory protein and CYP11B2. Hence, the lower expression of TASK-2 channel in APA cells can explain high aldosterone secretion in human primary aldosteronism despite the suppression of angiotensin II, hypertension, and hypokalemia.
- [About two particular aspects of sarcoid-like reaction]. [Case Reports]
- RPRev Pneumol Clin 2013; 69(2):117-9
- First report of ectopic ACTH syndrome and PTHrP-induced hypercalcemia due to a hepatoblastoma in a child. [Case Reports]
- EJEur J Endocrinol 2010; 162(4):813-8
- CONCLUSIONS: This is the first report of an endocrine-active HB causing both Cushing's syndrome and PTHrP-related 'humoral hypercalcemia of malignancy'. This information should be added to the well-known beta-human chorionic gonadotropin-related paraneoplastic effects of HB in children.
- Laparoscopic bilateral adrenalectomy for occult ectopic ACTH syndrome. [Journal Article]
- JLJ Laparoendosc Adv Surg Tech A 2008; 18(1):52-5
- CONCLUSIONS: Laparoscopic bilateral adrenalectomy for ectopic ACTH syndrome refractory to medical management can be performed with low morbidity. Symptoms and signs of hypercortisolism rapidly improve postoperatively.
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- "Rescue" bilateral adrenalectomy in paraneoplastic Cushing's syndrome with invasive Aspergillus fumigatus infection. [Case Reports]
- AJAm J Med Sci 2007; 334(6):497-8
- We report the case of a patient with life-threatening Aspergillosis during paraneoplastic Cushing's syndrome. Anticortisolic drug ketoconazole was unable to lower severe hypercortisolism and despite ...
We report the case of a patient with life-threatening Aspergillosis during paraneoplastic Cushing's syndrome. Anticortisolic drug ketoconazole was unable to lower severe hypercortisolism and despite antifungal treatment available at this time (liposomal amphotericine B and terbinafine), Aspergillus fumigatus infection was uncontrolled and extensive. "Rescue" bilateral adrenalectomy was performed to control hypercortisolism, leading to rapid fungal infection cure. We emphasize surgical management of hypercortisolism to achieve rapid blunting of cortisol production in a such life-threatening situation.