keyword
https://read.qxmd.com/read/38633897/spatial-transcriptomic-analysis-of-pituitary-corticotroph-tumors
#1
JOURNAL ARTICLE
Jeremie Oliver Piña, Fabio R Faucz, Cameron Padilla, Charalampos S Floudas, Prashant Chittiboina, Martha Quezado, Christina Tatsi
CONTEXT: Spatial transcriptomic (ST) analysis of tumors provides a novel approach to studying gene expression along with the localization of tumor cells in their environment to uncover spatial interactions. DESIGN: We present ST analysis of corticotroph pituitary neuroendocrine tumors (PitNETs) from formalin-fixed, paraffin-embedded tissues. ST data were compared to immunohistochemistry results. Gene expression profiles were reviewed for cluster annotations, and differentially expressed genes were used for pathway analysis...
April 6, 2024: Journal of the Endocrine Society
https://read.qxmd.com/read/38619729/an-objective-way-to-predict-remission-and-relapse-in-cushing-disease-using-bayes-theorem-of-probability
#2
JOURNAL ARTICLE
N Gupta, B D Konsam, R Walia, S K Bhadada, R Chhabra, S Dhandapani, A Singh, C K Ahuja, N Sachdeva, U N Saikia
OBJECTIVE: In this study on patients with Cushing disease, post-transsphenoidal surgery (TSS), we attempt to predict the probability of remaining in remission, at least for a year and relapse after that, using Bayes' theorem and the equation of conditional probability. The number of parameters, as well as the weightage of each, is incorporated in this equation. DESIGN AND METHODS: The study design was a single-centre ambispective study. Ten clinical, biochemical, radiological and histopathological parameters capable of predicting Cushing disease remission were identified...
April 15, 2024: Journal of Endocrinological Investigation
https://read.qxmd.com/read/38614126/venous-thromboembolism-in-cushing-syndrome-results-from-an-eurreca-and-endo-ern-survey
#3
JOURNAL ARTICLE
Mariya Cherenko, Natasha M Appelman-Dijkstra, Ana Luisa Priego-Zurita, N R Biermasz, Olaf Dekkers, F A Klok, Nicole Reisch, Anna Aulinas, Betina Biagetti, Salvatore Cannavo, Letizia Canu, Mario Detomas, France Devuyst, Henrik Falhammar, Richard A Feelders, Francesco Ferrau, F Gatto, Chiara Grasselli, Pepijn van Houten, Charlotte Hoybye, Andrea M Isidori, Aglaia Kyrilli, Paola Loli, Dominique Maiter, Elisabeth Dorothea Susanne Nowak, Rosario Pivonello, Oskar Ragnarsson, Rebecca V Steenaard, Nicole Unger, Annenienke C Van de Ven, Susan M Webb, Diego Yeste, S Faisal Ahmed, Alberto M Pereira
BACKGROUND: Patients with Cushing syndrome (CS) are at increased risk of venous thromboembolism (VTE). OBJECTIVE: To evaluate current management of new cases of CS with a focus on VTE and thromboprophylaxis. DESIGN AND METHODS: A survey was conducted within those that report in electronic reporting tool (e-REC) of The European Registries for Rare Endocrine Conditions (EuRRECa) and the involved main thematic groups (MTG's) of the European Reference Networks for Rare Endocrine Disorders (Endo-ERN) on new patients with CS from January 2021 until July 2022...
April 1, 2024: Endocrine Connections
https://read.qxmd.com/read/38601682/analysis-of-brain-structural-covariance-network-in-cushing-disease
#4
JOURNAL ARTICLE
Can-Xin Xu, Linghan Kong, Hong Jiang, Yue Jiang, Yu-Hao Sun, Liu-Guan Bian, Yuan Feng, Qing-Fang Sun
BACKGROUND: Cushing disease (CD) is a rare clinical neuroendocrine disease. CD is characterized by abnormal hypercortisolism induced by a pituitary adenoma with the secretion of adrenocorticotropic hormone. Individuals with CD usually exhibit atrophy of gray matter volume. However, little is known about the alterations in topographical organization of individuals with CD. This study aimed to investigate the structural covariance networks of individuals with CD based on the gray matter volume using graph theory analysis...
April 15, 2024: Heliyon
https://read.qxmd.com/read/38557479/the-risk-of-covid-19-in-cushing-s-disease-is-independently-related-to-disease-activity-hypercortisolism-and-obesity
#5
JOURNAL ARTICLE
Bruna M G Mascarenhas-Nakano, Silvia R Correa-Silva, Silvia M R Fracacio, Paola W Brock, Rossella F Dias, Eduarda S S Binda, Pedro F Santos-Neto, Luiz H C Portari, Adriana Sanudo, Julio Abucham
OBJECTIVE: To evaluate the cumulative incidence, risk factors, and outcomes of COVID-19 in patients with Cushing's disease (CD). SUBJECTS AND METHODS: In all, 60 patients with CD following up in our outpatient clinic answered via phone interview a questionnaire about the occurrence of COVID-19 infection documented by RT-PCR (including the diagnosis date and clinical outcome) and vaccination status. Clinical and biochemical data on disease activity (hypercortisolism) and comorbidities (obesity, diabetes mellitus, and hypertension) were obtained from the patients' electronic medical records...
March 27, 2024: Archives of Endocrinology and Metabolism
https://read.qxmd.com/read/38552626/impaired-hippocampal-cortical-interactions-during-sleep-in-a-mouse-model-of-alzheimer-s-disease
#6
Sarah D Cushing, Ivan Skelin, Shawn C Moseley, Alina C Stimmell, Jessica R Dixon, Andreza S Melilli, Leonardo Molina, Bruce L McNaughton, Aaron A Wilber
No abstract text is available yet for this article.
March 28, 2024: Current Biology: CB
https://read.qxmd.com/read/38541884/obesity-related-hemodynamic-alterations-in-patients-with-cushing-s-disease
#7
JOURNAL ARTICLE
Agnieszka Jurek, Paweł Krzesiński, Beata Uziębło-Życzkowska, Przemysław Witek, Grzegorz Zieliński, Robert Wierzbowski, Anna Kazimierczak, Małgorzata Banak, Grzegorz Gielerak
Background : Cushing's disease (CD) is associated with a specific form of metabolic syndrome that includes visceral obesity, which may affect cardiovascular hemodynamics by stimulating hypercortisolism-related metabolic activity. The purpose of this study was to evaluate the relationship between obesity and the hemodynamic profile of patients with CD. Methods : This prospective clinical study involved a hemodynamic status assessment of 54 patients newly diagnosed with CD with no significant comorbidities (mean age of 41 years)...
March 14, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38529874/-functional-hypercortisolism-in-mental-disorder-association-with-psychopathological-manifestations-and-course-of-the-disease
#8
JOURNAL ARTICLE
O A Yunilaynen, P A Baranov, E G Starostina, E G Przhiyalkovskaya, S A Zozulya, I N Ottman, I V Oleychik
The article presents a case of a long-term mental disorder in a 35-year-old woman with a persistent laboratory-confirmed increase in cortisol levels, without clinical manifestations of hypercortisolism. The first signs of mental illness appeared at the age of 14; over the past 8 years, the disease has been continuous and manifests itself in the form of a predominantly depressive state with increasing severity and complication of symptoms. Throughout all the years of the disease, active psychopharmacotherapy was carried out, combinations of antidepressants with antipsychotics and mood stabilizers were used, but no pronounced effect was achieved...
2024: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/38497394/prevalence-of-endocrine-disorders-in-304-premenopausal-women-referred-with-oligomenorrhoea
#9
JOURNAL ARTICLE
Hamiyet Yilmaz, Mustafa Demirpence, Umit Belet, Ibrahim Ozkiliç, Ayfer Colak, Savas Ceylan, Muammer Sarıkaya, Erdem Yasar
INTRODUCTION: We aimed to evaluate 304 premenopausal women admitted to our clinic for oligomenorrhoea, and to screen for Cushing's syndrome (CS) in this population. MATERIAL AND METHODS: The study included 304 premenopausal women referred to our clinic for oligomenorrhoea. Anthropometric measurements and Ferriman-Gallwey score were evaluated, and thyroid hormone, follicle-stimulating hormone (FSH), luteinizing hormone (LH), total testosterone, prolactin, dehydroepiandrosterone sulphate (DHEA-S), and 17-hydroxyprogesterone (17-OHP) levels were measured in all patients...
2024: Endokrynologia Polska
https://read.qxmd.com/read/38496019/clinical-and-cardiac-characteristics-of-primary-bilateral-macronodular-adrenal-hyperplasia
#10
JOURNAL ARTICLE
Sisi Miao, Lin Lu, Shengyong Si, Dandan Peng, Ya Zhong, Zhijing Li, Zhenqiu Yu
BACKGROUND: Cardiovascular disease is the leading cause of death in Cushingžs syndrome (CS). Primary bilateral macro-nodular adrenal hyperplasia (PBMAH), is a rare cause of CS that is clinically distinct from the other common types of CS, but cardiac characteristics have been poorly studied. METHODS: The clinical data, steroid hormones and echocardiographic variables of 17 patients with PBMAH were collected. Twenty-one CS patients with cortisol-producing adenoma (CPA) were collected as controls...
January 25, 2024: Journal of Medical Biochemistry
https://read.qxmd.com/read/38441527/multicenter-registry-of-adenomas-of-the-pituitary-and-related-disorders-initial-description-of-cushing-disease-cohort-surgical-outcomes-and-surgeon-characteristics
#11
JOURNAL ARTICLE
Andrew S Little, Michael Karsy, James J Evans, Won Kim, Donato R Pacione, Albert H Kim, Paul A Gardner, Benjamin K Hendricks, Christina E Sarris, Ildiko E Torok, Trevor M Low, Tomiko A Crocker, Benita Valappil, Mridu Kanga, Hussein Abdallah, Sarah Collopy, Juan C Fernandez-Miranda, Vera Vigo, Vladimir A Ljubimov, Gabriel Zada, Norman E Garrett, William Delery, Kevin C J Yuen, Robert C Rennert, William T Couldwell, Julie M Silverstein, Varun R Kshettry, Michael R Chicoine
BACKGROUND AND OBJECTIVES: To address the lack of a multicenter pituitary surgery research consortium in the United States, we established the Registry of Adenomas of the Pituitary and Related Disorders (RAPID). The goals of RAPID are to examine surgical outcomes, improve patient care, disseminate best practices, and facilitate multicenter surgery research at scale. Our initial focus is Cushing disease (CD). This study aims to describe the current RAPID patient cohort, explore surgical outcomes, and lay the foundation for future studies addressing the limitations of previous studies...
March 5, 2024: Neurosurgery
https://read.qxmd.com/read/38381834/discovery-of-a-cushing-s-syndrome-protein-kinase-a-mutant-that-biases-signaling-through-type-i-akaps
#12
JOURNAL ARTICLE
Mitchell H Omar, Dominic P Byrne, Safal Shrestha, Tyler M Lakey, Kyung-Soon Lee, Sophia M Lauer, Kerrie B Collins, Leonard A Daly, Claire E Eyers, Geoffrey S Baird, Shao-En Ong, Natarajan Kannan, Patrick A Eyers, John D Scott
Adrenal Cushing's syndrome is a disease of cortisol hypersecretion often caused by mutations in protein kinase A catalytic subunit (PKAc). Using a personalized medicine screening platform, we discovered a Cushing's driver mutation, PKAc-W196G, in ~20% of patient samples analyzed. Proximity proteomics and photokinetic imaging reveal that PKAcW196G is unexpectedly distinct from other described Cushing's variants, exhibiting retained association with type I regulatory subunits (RI) and their corresponding A kinase anchoring proteins (AKAPs)...
February 23, 2024: Science Advances
https://read.qxmd.com/read/38373302/autoimmune-disorders-associated-with-surgical-remission-of-cushing-s-disease-a-cohort-study
#13
JOURNAL ARTICLE
Dennis Delasi Nyanyo, Masaaki Mikamoto, Francesca Galbiati, Ilan Remba-Shapiro, Kevin Bode, Sara Schoenfeld, Pamela S Jones, Brooke Swearingen, Lisa B Nachtigall
BACKGROUND: Glucocorticoids suppress inflammation. Autoimmune disease may occur after remission of Cushing's disease (CD). However, the development of autoimmune disease in this context is not well described. OBJECTIVE: To determine 1) the incidence of autoimmune disease in patients with CD after surgical remission compared with patients with nonfunctioning pituitary adenomas (NFPAs) and 2) the clinical presentation of and risk factors for development of autoimmune disease in CD after remission...
March 2024: Annals of Internal Medicine
https://read.qxmd.com/read/38352438/loss-of-symmetric-cell-division-of-apical-neural-progenitors-drives-dennd5a-related-developmental-and-epileptic-encephalopathy
#14
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Levesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa A Elmaksoud, Huda G El Said, Tawfiq Froukh, Harinder K Gill, Joseph G Gleeson, Laura Gogoll, Elaine S-Y Goh, Vykuntaraju K Gowda, Tobias B Haack, Mais O Hashem, Stefan Hauser, Trevor L Hoffman, Jacob S Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R Lupski, Elysa J Marco, Kirsty McWalter, Arakel Minassian, Berge A Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C Spillman, Varunvenkat M Srinivasan, Paria N Torbati, Tulay Tos, Maha S Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Guarav K Varshney, Reza Maroofian, David A Rudko, Peter S McPherson
Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of epilepsies in which altered brain development leads to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopment. Identifying the underlying cause of DEEs is essential for progress toward precision therapies. Here we describe a group of individuals with biallelic variants in DENND5A and determine that variant type is correlated with disease severity. We demonstrate that DENND5A interacts with MUPP1 and PALS1, components of the Crumbs apical polarity complex, which is required for both neural progenitor cell identity and the ability of these stem cells to divide symmetrically...
January 31, 2024: medRxiv
https://read.qxmd.com/read/38336898/consensus-guideline-for-the-diagnosis-and-management-of-pituitary-adenomas-in-childhood-and-adolescence-part-2-specific-diseases
#15
REVIEW
Márta Korbonits, Joanne C Blair, Anna Boguslawska, John Ayuk, Justin H Davies, Maralyn R Druce, Jane Evanson, Daniel Flanagan, Nigel Glynn, Claire E Higham, Thomas S Jacques, Saurabh Sinha, Ian Simmons, Nicky Thorp, Francesca M Swords, Helen L Storr, Helen A Spoudeas
Pituitary adenomas are rare in children and young people under the age of 19 (hereafter referred to as CYP) but they pose some different diagnostic and management challenges in this age group than in adults. These rare neoplasms can disrupt maturational, visual, intellectual and developmental processes and, in CYP, they tend to have more occult presentation, aggressive behaviour and are more likely to have a genetic basis than in adults. Through standardized AGREE II methodology, literature review and Delphi consensus, a multidisciplinary expert group developed 74 pragmatic management recommendations aimed at optimizing care for CYP in the first-ever comprehensive consensus guideline to cover the care of CYP with pituitary adenoma...
February 9, 2024: Nature Reviews. Endocrinology
https://read.qxmd.com/read/38311994/-development-of-sarcoidosis-after-successful-treatment-of-cushing-s-disease
#16
JOURNAL ARTICLE
P A Zakharova, I A Ilovayskaya, S A Terpigorev, I V Komerdus, A Yu Lugovskaya
Cushing's disease is a rare severe neuroendocrine disorder caused by chronic overproduction of adrenocorticotropic hormone by a pituitary tumor. Supraphysiological concentrations of cortisol in endogenous hypercortisolism have an immunosuppressive and anti-inflammatory effect similar to therapy with systemic glucocorticosteroids. This may reduce the activity of the patient's concomitant autoimmune inflammatory diseases. On the other hand, a decrease in cortisol levels during treatment for Cushing's disease may be associated with a reactivation of the immune system that pose a risk of onset or recurrence of an autoimmune disorder...
January 24, 2024: Problemy E̊ndokrinologii
https://read.qxmd.com/read/38311874/sex-related-differences-in-cushing-s-disease-a-systematic-review-and-meta-analysis
#17
REVIEW
Basel F Alqeeq, Mohammed Ayyad, Waseem J Almadhoun, Mohammad Aboabdo, Mosheer S Aldahdouh, Mohammed Al-Tawil, Ahmed M Al-Ghazali
BACKGROUND AND OBJECTIVES: Cushing's disease is a rare endocrine disorder. This review aimed to examine sex-specific differences in Cushing's disease. DESIGN AND SETTINGS: A meta-analysis was performed on published articles discussing the gender impact of Cushing's disease. METHODS: A systematic search was conducted to identify studies from Medline, Embase, CENTRAL and Scopus. Nine studies enrolling 1047 patients diagnosed with Cushing's disease were included in this meta-analysis...
2024: Annals of Saudi Medicine
https://read.qxmd.com/read/38274483/the-rapid-consortium-a-platform-for-clinical-and-translational-pituitary-tumor-research
#18
JOURNAL ARTICLE
Michael Karsy, Varun Kshettry, Paul Gardner, Michael Chicoine, Juan C Fernandez-Miranda, James J Evans, Garni Barkhoudarian, Douglas Hardesty, Won Kim, Gabriel Zada, Tomiko Crocker, Ildiko Torok, Andrew Little
Objectives  Pituitary tumor treatment is hampered by the relative rarity of the disease, absence of a multicenter collaborative platform, and limited translational-clinical research partnerships. Prior studies offer limited insight into the formation of a multicenter consortium. Design  The authors describe the establishment of a multicenter research initiative, Registry of Adenomas of the Pituitary and Related Disorders (RAPID), to encourage quality improvement and research, promote scholarship, and apply innovative solutions in outcomes research...
February 2024: Journal of Neurological Surgery. Part B, Skull Base
https://read.qxmd.com/read/38161162/cushing-syndrome-in-childhood
#19
REVIEW
Anthony Parish, Clement Cheung, Anna Ryabets-Lienhard, Paul Zamiara, Mimi S Kim
We describe a 15-year-old boy who presented with low back pain due to vertebral compression fractures, growth deceleration, excessive weight gain, rounded facies, dorsocervical fat pad, and hypertension. He was diagnosed as having Cushing syndrome (CS) due to primary pigmented nodular adrenocortical disease resulting in excess cortisol produced by the adrenal glands, leading to disruption of the hypothalamic-pituitary-adrenal axis. The most common cause of CS is exogenous glucocorticoids, with endogenous causes being extremely rare, often leading to delay in diagnosis or misdiagnosis...
January 1, 2024: Pediatrics in Review
https://read.qxmd.com/read/38155950/editorial-glucocorticoids-and-cognition-recent-advances-in-understanding-their-interaction-with-a-particular-focus-on-clinical-applicability-for-the-treating-endocrinologist
#20
EDITORIAL
Ian Louis Ross, Eystein S Husebye, Michelle Henry
No abstract text is available yet for this article.
2023: Frontiers in Endocrinology
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