keyword
MENU ▼
Read by QxMD icon Read
search

Cushings disease

keyword
https://www.readbyqxmd.com/read/28533356/loss-of-function-mutations-in-the-cables1-gene-are-a-novel-cause-of-cushing-s-disease
#1
Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya Lodish, Nathan Pankratz, Aurélio Balsalobre, Yves Gauthier, Fabio R Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M Kay, Aggeliki Dimopoulou, Stephane Gaillard, Mario Neou, Jerome Bertherat, Guillaume Assié, Chiara Villa, James L Mills, Jacques Drouin, Constantine A Stratakis
The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations...
May 22, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28532906/first-report-of-coexistence-of-2-ectopic-pituitary-tumors-rathke-cleft-cyst-and-silent-acth-adenoma
#2
Mirza Pojskić, Blazej Zbytek, Neal S Beckford, Frederick A Boop, Kenan I Arnautović
Rathke cleft cysts (RCCs) and pituitary adenomas (PAs) are thought to have a common embryonic ancestry. Despite this, PAs with a concomitant RCC inside the sella turcica are rarely observed; ectopic pituitary tumors are also rare. We present the case of a 65-year-old woman with an ectopic RCC in the sphenoid sinus and outside of the sella turcica concomitant with an adrenocorticotropic hormone (ACTH)-staining, clinically silent PA. The patient presented with headache but no endocrine or visual disturbances...
May 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28530316/-radiosurgery-for-pituitary-adenomas
#3
REVIEW
Or Cohen-Inbar
Pituitary adenomas represent one of the most common types of intracranial tumors, accounting for 10-20% of intracranial tumors. While their macroscopic appearance and anatomical location are relatively homogeneous, pituitary tumors differ widely, generating a variety of neurological and endocrine clinical sequelae. Treatment options include hormone suppressive medical therapy, microscopic or endoscopic neurosurgical resection, radiosurgery, radiation therapy, or observation depending on the biochemical profile and the clinical status of the patient...
January 2017: Harefuah
https://www.readbyqxmd.com/read/28529722/recent-advances-in-understanding-cushing-disease-resistance-to-glucocorticoid-negative-feedback-and-somatic-usp8-mutations
#4
REVIEW
Eleni Daniel, John Newell-Price
Cushing's disease is a rare disease with a characteristic phenotype due to significant hypercortisolism driven by over-secretion of adrenocorticotropic hormone and to high morbidity and mortality if untreated. It is caused by a corticotroph adenoma of the pituitary, but the exact mechanisms leading to tumorigenesis are not clear. Recent advances in molecular biology such as the discovery of somatic mutations of the ubiquitin-specific peptidase 8 ( USP8) gene allow new insights into the pathogenesis, which could be translated into exciting and much-needed therapeutic applications...
2017: F1000Research
https://www.readbyqxmd.com/read/28522647/prkar1a-mutation-causing-pituitary-dependent-cushing-disease-in-a-patient-with-carney-complex
#5
Florian W Kiefer, Yvonne Winhofer, Donato Iacovazzo, Marta Korbonits, Stefan Wolfsberger, Engelbert Knosp, Franz Trautinger, Romana Höftberger, Michael Krebs, Anton Luger, Alois Gessl
CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. CASE DESCRIPTION: Here we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28520590/role-of-tyrosine-kinase-inhibitors-in-the-treatment-of-pituitary-tumours-from-bench-to-bedside
#6
Anat Ben-Shlomo, Odelia Cooper
PURPOSE OF REVIEW: Treatment of aggressive pituitary tumours often yields suboptimal control of the tumour and confers significant morbidity. Lactotroph and corticotroph-derived tumours express ErbB receptors and ligands, and mutations in ubiquitin-specific protease 8 (USP8), which alters epidermal growth factor receptor (EGFR) degradation, have been implicated in Cushing disease pathogenesis. EGFR tyrosine kinase inhibitor (TKI) therapy has emerged as a potential new therapeutic approach for patients with aggressive prolactinomas and Cushing disease...
May 17, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28510653/chronic-corticosterone-treatment-during-adolescence-has-significant-effects-on-metabolism-and-skeletal-development-in-male-c57bl6-n-mice
#7
Scott A Kinlein, Ziasmin Shahanoor, Russell D Romeo, Ilia N Karatsoreos
Glucocorticoids are potent modulators of metabolic and behavioral function. Their role as mediators in the "stress response" is well known, but arguably their primary physiological function is in the regulation of cellular and organismal metabolism. Disruption of normal glucocorticoid function is linked to metabolic disease, such as Cushing's syndrome. Glucocorticoids are also elevated in many forms of obesity, suggesting that there are bidirectional effects of these potent hormones on metabolism and metabolic function...
May 15, 2017: Endocrinology
https://www.readbyqxmd.com/read/28505327/histone-deacetylase-inhibitor-saha-is-a-novel-promising-treatment-for-cushing-s-disease
#8
Jie Lu, Grégoire P Chatain, Alejandro Bugarini, Xiang Wang, Dragan Maric, Stuart Walbridge, Zhengping Zhuang, Prashant Chittiboina
Context: Remission failure following transsphenoidal surgery in Cushing's disease (CD) from pituitary corticotroph tumors (CtT) remains clinically challenging. Histone deacetylase (HDAC) inhibitors are antitumor drugs approved for oral clinical use, with potential to affect adrenocorticotropin (ACTH) hypersecretion by inhibiting proopiomelanocortin (POMC) transcription. Objective: Testing efficacy of suberolyl hydroxamic acid (SAHA) on human and murine ACTH-secreting tumor cells...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28505279/somatic-usp8-gene-mutations-are-a-common-cause-of-pediatric-cushing-disease
#9
Fabio R Faucz, Amit Tirosh, Christina Tatsi, Annabel Berthon, Laura C Hernández-Ramírez, Nikolaos Settas, Anna Angelousi, Ricardo Correa, Georgios Z Papadakis, Prashant Chittiboina, Martha Quezado, Nathan Pankratz, John Lane, Aggeliki Dimopoulos, James L Mills, Maya Lodish, Constantine A Stratakis
Context: Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene have been recently identified as the most common genetic alteration in patients with Cushing disease (CD). However, the frequency of these mutations in the pediatric population has not been extensively assessed. Objective: We investigated the status of the USP8 gene at the somatic level in a cohort of pediatric patients with corticotroph adenomas. Design and Methods: The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric CD patients...
May 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28502514/dyslipidemia-weight-gain-and-decreased-growth-velocity-in-a-14-year-old-male
#10
Don P Wilson, Luke Hamilton, Sameer Prakash, Fernando J Castro-Silva, James Friedman
A 14-year-old male was referred for dyslipidemia. His findings were consistent with metabolic syndrome. Although he lacked the typical physical appearance, his accelerated weight gain combined with a decreased linear growth velocity suggested Cushing syndrome. He was subsequently found to have adrenocorticotropic hormone-independent Cushing syndrome secondary to primary pigmented nodular adrenal disease without Carney Complex. After bilateral adrenalectomy, his lipid profile returned to normal. In this article, we discuss the role of glucocorticoids on lipid and lipoprotein metabolism...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28487882/identification-of-a-novel-rasd1-somatic-mutation-in-a-usp8-mutated-corticotroph-adenoma
#11
Andrew V Uzilov, Khadeen C Cheesman, Marc Y Fink, Leah C Newman, Chetanya Pandya, Yelena Lalazar, Marco Hefti, Mary Fowkes, Gintaras Deikus, Chun Yee Lau, Aye S Moe, Yayoi Kinoshita, Yumi Kasai, Micol Zweig, Arpeta Gupta, Daniela Starcevic, Milind Mahajan, Eric E Schadt, Kalmon D Post, Michael J Donovan, Robert Sebra, Rong Chen, Eliza B Geer
Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic and are the sole known molecular driver for CD. Although other somatic mutations were reported in these studies, their contribution to the pathogenesis of CD remains unexplored. No molecular drivers have been established for a large proportion of CD cases and tumor heterogeneity has not yet been investigated using genomics methods...
May 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28480039/acute-mesenteric-ischemia-and-hepatic-infarction-after-treatment-of-ectopic-cushing-s-syndrome
#12
Shinobu Takayasu, Shingo Murasawa, Satoshi Yamagata, Kazunori Kageyama, Takeshi Nigawara, Yutaka Watanuki, Daisuke Kimura, Takao Tsushima, Yoshiyuki Sakamoto, Kenichi Hakamada, Ken Terui, Makoto Daimon
SUMMARY: Patients with Cushing's syndrome and excess exogenous glucocorticoids have an increased risk for venous thromboembolism, as well as arterial thrombi. The patients are at high risk of thromboembolic events, especially during active disease and even in cases of remission and after surgery in Cushing's syndrome and withdrawal state in glucocorticoid users. We present a case of Cushing's syndrome caused by adrenocorticotropic hormone-secreting lung carcinoid tumor. Our patient developed acute mesenteric ischemia after video-assisted thoracoscopic surgery despite administration of sufficient glucocorticoid and thromboprophylaxis in the perioperative period...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458898/efficacy-of-pasireotide-in-controlling-severe-hypercortisolism-until-cardiac-transplantation
#13
Roberto Attanasio, Liana Cortesi, Daniela Gianola, Claudia Vettori, Fulvio Sileo, Roberto Trevisan
SUMMARY: Cushing's syndrome is associated with increased morbidity and mortality. Although surgery is the first-line treatment, drugs can still play a role as an ancillary treatment to be employed while waiting for surgery, after unsuccessful operation or in patients unsuitable for surgery. We were asked to evaluate a 32-year-old male waiting for cardiac transplantation. Idiopathic hypokinetic cardiomyopathy had been diagnosed since 6 years. He was on treatment with multiple drugs, had a pacemaker, an implantable cardioverter and an external device for the support of systolic function...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458897/armc5-mutation-in-a-portuguese-family-with-primary-bilateral-macronodular-adrenal-hyperplasia-pbmah
#14
Teresa Rego, Fernando Fonseca, Stéphanie Espiard, Karine Perlemoine, Jérôme Bertherat, Ana Agapito
SUMMARY: PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral neck fracture in May 2014, in Orthopedics Department. During hospitalization, hypertension (HTA) and hypokalemia were diagnosed. She presented with clinical signs of hypercortisolism and was transferred to the Endocrinology ward for suspected CS...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458895/case-of-diabetic-ketoacidosis-as-an-initial-presentation-of-cushing-s-syndrome
#15
Runa Acharya, Udaya M Kabadi
SUMMARY: Diabetic ketoacidosis (DKA) is commonly encountered in clinical practice. The current case is a unique and rare presentation of DKA as the initial manifestation of Cushing's disease secondary to ACTH-secreting pituitary adenoma. Appropriate management as elaborated in the article led to total remission of diabetes as well as the Cushing's disease. LEARNING POINTS: DKA is a serious and potentially life-threatening metabolic complication of diabetes mellitus...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458232/cortisol-mediator-of-association-between-alzheimer-s-disease-and-diabetes-mellitus
#16
REVIEW
Elena Notarianni
Numerous epidemiologic studies have identified an independent association between Alzheimer's disease (AD) and diabetes mellitus (DM), which remains unexplained. This review contends that the association is mediated by mild hypercortisolemia that is manifested in AD by early stages, as empirical evidence indicates that hypercortisolemia is diabetogenic even at subclinical levels. Subclinical Cushing's syndrome is discussed as the paradigm. It is proposed that hypercortisolemia increases the risk of pre-diabetes and DM during early AD and the preceding decades...
April 23, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28457311/a-rare-association-cushing-disease-and-central-serous-chorioretinopathy
#17
Cameron Clarke, Stacy V Smith, Andrew G Lee
No abstract text is available yet for this article.
April 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28452619/comparison-of-mri-techniques-for-detecting-microadenomas-in-cushing-s-disease
#18
Yuval Grober, Hagit Grober, Max Wintermark, John A Jane, Edward H Oldfield
OBJECTIVE Many centers use conventional and dynamic contrast-enhanced MRI (DMRI) sequences in patients with Cushing's disease. The authors assessed the utility of the 3D volumetric interpolated breath-hold examination, a spoiled-gradient echo 3D T1 sequence (SGE) characterized by superior soft tissue contrast and improved resolution, compared with DMRI and conventional MRI (CMRI) for detecting microadenomas in patients with Cushing's disease. METHODS This study was a blinded assessment of pituitary MRI in patients with proven Cushing's disease...
April 28, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28451756/thymus-neuroendocrine-tumors-with-ctnnb1-gene-mutations-disarrayed-%C3%A3-catenin-expression-and-dual-intra-tumor-ki-67-labeling-index-compartmentalization-challenge-the-concept-of-secondary-high-grade-neuroendocrine-tumor-a-paradigm-shift
#19
Alessandra Fabbri, Mara Cossa, Angelica Sonzogni, Paolo Bidoli, Stefania Canova, Diego Cortinovis, Maria Ida Abbate, Fiorella Calabrese, Nazarena Nannini, Francesca Lunardi, Giulio Rossi, Stefano La Rosa, Carlo Capella, Elena Tamborini, Federica Perrone, Adele Busico, Iolanda Capone, Barbara Valeri, Ugo Pastorino, Adriana Albini, Giuseppe Pelosi
We herein report an uncommon association of intimately admixed atypical carcinoid (AC) and large cell neuroendocrine (NE) carcinoma (LCNEC) of the thymus, occurring in two 20- and 39-year-old Caucasian males. Both tumors were treated by maximal thymectomy. The younger patient presented with a synchronous lesion and died of disease after 9 months, while the other patient was associated with a recurrent ectopic adrenocorticotropic hormone Cushing's syndrome and is alive with disease at the 2-year follow-up. MEN1 syndrome was excluded in either case...
April 27, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28450646/effect-of-mitotane-on-mouse-ovarian-follicle-development-and-fertility
#20
Federica Innocenti, Lidia Cerquetti, Serena Pezzilli, Barbara Bucci, Vincenzo Toscano, Rita Canipari, Antonio Stigliano
Mitotane (MTT) is an adrenolytic drug used in advanced and adjuvant treatment of adrenocortical carcinoma, in Cushing's disease and in ectopic syndrome. However, knowledge about its effects on the ovary is still scarce. The purpose of this study is to investigate the effect of MTT on the ovary using in vivo and in vitro models. The study was performed in CD1 mice and in the COV-434 human ovarian granulosa cell line. We examined ovarian morphology, follicle development, steroidogenesis and procreative function in mice and the effect of MTT on cell growth in vitro...
April 27, 2017: Journal of Endocrinology
keyword
keyword
15857
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"