keyword
https://read.qxmd.com/read/38440784/safe-long-term-therapy-of-cushing-s-syndrome-over-37-years-with-mitotane
#21
REVIEW
Jonas Seibold, Mario Hönemann, Anke Tönjes, Benjamin Sandner
While suggested, surgery is not always possible as a first-line treatment of Cushing's Disease (CD). In such cases, patients require medical therapy in order to prevent complications resulting from hypercortisolism. Although there has been a wide expansion in pharmacological options in recent years, mitotane was the agent of choice for treating hypercortisolism decades ago. Due to the introduction of other therapies, long-term experience with mitotane remains limited. Here, we report the case of a woman with CD who was treated with mitotane for 37 years...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38440127/delayed-diagnosis-of-ectopic-cushing-syndrome
#22
Brooke C Matson, Joshua M Evron, Steven M Johnson, Evan M Zeitler, Klara R Klein
Here, we present the case of a 40-year-old man in whom the diagnosis of ectopic adrenocorticotropin (ACTH) syndrome went unrecognized despite evaluation by multiple providers until it was ultimately suspected by a nephrologist evaluating the patient for edema and weight gain. On urgent referral to endocrinology, screening for hypercortisolism was positive by both low-dose overnight dexamethasone suppression testing and 24-hour urinary free cortisol measurement. Plasma ACTH values confirmed ACTH-dependent Cushing syndrome...
March 2024: JCEM Case Rep
https://read.qxmd.com/read/38435205/pheochromocytoma-with-high-adrenocorticotropic-hormone-production-capacity-without-pigmentation-and-cushingoid-symptoms-a-case-report-with-a-literature-review
#23
Gen Mizutani, Masashi Isshiki, Eisuke Shimizu, Daigo Saito, Akira Shimada
Pheochromocytoma or paraganglioma (PPGL) originating from chromaffin cells can produce diverse hormones in addition to catecholamines, including adrenocorticotropic hormone (ACTH). In pheochromocytoma, high levels of ACTH might not result in pigmentation as typically observed in Addison's disease, and patients might not exhibit the symptoms of Cushing's syndrome, despite ACTH-dependent hypercortisolism. A 63-year-old male patient with hypertension was admitted to our facility, and computed tomography (CT) revealed a large right adrenal tumor...
February 2024: Curēus
https://read.qxmd.com/read/38433538/-machine-learning-methods-in-differential-diagnosis-of-acth-dependent-hypercortisolism
#24
JOURNAL ARTICLE
O O Golounina, Zh E Belaya, K A Voronov, A G Solodovnikov, L Ya Rozhinskaya, G A Melnichenko, N G Mokrysheva, I I Dedov
AIM: To develop a noninvasive method of differential diagnosis of ACTH-dependent hypercortisolism, as well as to evaluate the effectiveness of an optimal algorithm for predicting the probability of ectopic ACTH syndrome (EAS) obtained using machine learning methods based on the analysis of clinical data. MATERIALS AND METHODS: As part of a single-center, one-stage, cohort study, a retrospective prediction of the probability of EAS among patients with ACTH-dependent hypercortisolism was carried out...
February 27, 2024: Problemy E̊ndokrinologii
https://read.qxmd.com/read/38431792/fulminant-ectopic-cushing-s-syndrome-caused-by-metastatic-small-intestine-neuroendocrine-tumour-a-case-report-and-review-of-the-literature
#25
B Alliet, C Severi, T Veekmans, J Cuypers, H Topal, C M Deroose, T Roskams, M Bex, J Dekervel
Cushing's syndrome (CS) secondary to adrenocorticotropic hormone (ACTH) producing tumours is a severe condition with a challenging diagnosis. Ectopic ACTH-secretion often involves neuroendocrine tumours (NET) in the respiratory tract. ACTH-secreting small intestine neuro-endocrine tumours (siNET) are extremely rare entities barely reported in literature. This review is illustrated by the case of a 75-year old woman with fulminant ectopic CS caused by a ACTH-secreting metastatic siNET. Severe hypokalemia, fluid retention and refractory hypertension were the presenting symptoms...
2024: Acta Gastro-enterologica Belgica
https://read.qxmd.com/read/38427336/what-is-cushing-syndrome
#26
JOURNAL ARTICLE
Rebecca Voelker
No abstract text is available yet for this article.
March 1, 2024: JAMA
https://read.qxmd.com/read/38426810/variants-in-genes-associated-with-hearing-loss-in-children-prevalence-in-a-large-canadian-cohort
#27
JOURNAL ARTICLE
Emily R Wener, Jacob D McLennan, Blake C Papsin, Sharon L Cushing, Dimitri James Stavropoulos, Roberto Mendoza-Londono, Nada Quercia, Karen A Gordon
OBJECTIVE: The objective of this study was to assess the prevalence of genetic variants associated with hearing loss in a large cohort of children in Canada using high throughput next generation sequencing (NGS). METHODS: A total of 485 children with hearing loss underwent NGS testing with an 80 gene panel of syndromic and non-syndromic variants known to be associated with hearing loss. Genetic variants were classified as pathogenic, likely pathogenic, likely benign, benign, or variants of uncertain significance (VUS), according to the American College of Medical Genetics and Genomics guidelines...
March 1, 2024: Laryngoscope
https://read.qxmd.com/read/38411891/diagnosis-and-management-of-secondary-adrenal-crisis
#28
REVIEW
Luciana Martel-Duguech, Jonathan Poirier, Isabelle Bourdeau, André Lacroix
Adrenal crisis (AC) is a life threatening acute adrenal insufficiency (AI) episode which can occur in patients with primary AI but also secondary AI (SAI), tertiary AI (TAI) and iatrogenic AI (IAI). In SAI, TAI and IAI, AC may develop when the HPA axis is unable to mount an adequate glucocorticoid response to severe stress due to pituitary or hypothalamic disruption. It manifests as an acute deterioration in multi-organ homeostasis that, if untreated, leads to shock and death. Despite the availability of effective preventive strategies, its prevalence is increasing in patients with SAI, TAI and IAI due to more frequent exogenous steroid administration, pituitary immune-related effects of immune checkpoint inhibitors and opioid use in pain management...
February 27, 2024: Reviews in Endocrine & Metabolic Disorders
https://read.qxmd.com/read/38411568/efficacy-and-safety-of-corticosteroids-and-acth-in-epileptic-syndromes-beyond-infantile-epileptic-spasms-syndrome-iess-a-systematic-review-and-meta-analysis
#29
REVIEW
Rudolf Korinthenberg, Thomas Bast, Edda Haberlandt, Ulrich Stephani, Adam Strzelczyk, Gerta Rücker
We conducted a systematic review investigating the efficacy and tolerability of adrenocorticotropic hormone (ACTH) and corticosteroids in children with epilepsies other than infantile epileptic spasm syndrome (IESS) that are resistant to anti-seizure medication (ASM). We included retrospective and prospective studies reporting on more than five patients and with clear case definitions and descriptions of treatment and outcome measures. We searched multiple databases and registries, and we assessed the risk of bias in the selected studies using a questionnaire based on published templates...
February 27, 2024: Epilepsia
https://read.qxmd.com/read/38409422/multi-omics-investigations-in-endocrine-systems-and-their-clinical-implications
#30
JOURNAL ARTICLE
Rodrigo Antonio Peliciari-Garcia, Carolina Fonseca de Barros, Ayla Secio-Silva, Diogo de Barros Peruchetti, Renata Marino Romano, Paula Bargi-Souza
Innovative techniques such as the "omics" can be a powerful tool for the understanding of intracellular pathways involved in homeostasis maintenance and identification of new potential therapeutic targets against endocrine-metabolic disorders. Over the last decades, proteomics has been extensively applied in the study of a wide variety of human diseases, including those involving the endocrine system. Among the most endocrine-related disorders investigated by proteomics in humans are diabetes mellitus and thyroid, pituitary, and reproductive system disorders...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38409302/clinical-features-and-risk-factors-for-postoperative-recurrence-in-patients-with-cushing-s-syndrome-of-different-etiologies
#31
JOURNAL ARTICLE
Yunjia Cai, Xue Zhao, Linan Ren, Siyuan Liu, Xinming Liu, Xiaokun Gang, Guixia Wang
The clinical characteristics of Cushing's syndrome (CS) vary with etiology, and few studies have investigated the risk factors affecting CS recurrence after surgery. This retrospective study involved 202 patients diagnosed with CS between December 2012 and December 2022. The patients were divided into three groups according to etiology: Cushing's disease (CD), adrenocortical adenoma (ACA), and ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS). Of the patients with CS, 41.9% had hypokalemia and 15.0% had hypophosphatemia...
February 26, 2024: Scientific Reports
https://read.qxmd.com/read/38406134/a-rare-case-of-adrenocortical-carcinoma-manifesting-as-a-pulmonary-embolism
#32
Madeline Vithya Barnaba Durairaj, Kasey Shallenburg, Neeraj Ashri, Punam Rajput
Adrenocortical carcinoma (ACC) is a very rare malignancy with a poor prognosis. It is predominantly noted in the fourth to fifth decades of life and is more common in White females. ACC is most commonly detected as an incidental finding but may have other presentations, such as rapid-onset Cushing's syndrome or pulmonary embolism. In the current case, ACC was incidentally observed in a 24-year-old female during imaging, and the patient later developed a pulmonary embolism. Lab investigations were suggestive of hypercortisolism along with hyperandrogenism...
January 2024: Curēus
https://read.qxmd.com/read/38404123/cushing-syndrome-and-tertiary-adrenal-insufficiency-from-prolonged-concomitant-use-of-budesonide-and-posaconazole
#33
JOURNAL ARTICLE
Andrew Grigg
Budesonide is a 'non-absorbable' corticosteroid often used for gut graft versus host disease. Systemic exposure is usually minimal because of metabolism by cytochrome (CYP) 3A4 in enterocytes and the liver. However, concomitant use of posaconazole and voriconazole, inhibitors of CYP3A4 commonly used as antifungal prophylaxis in allograft patients receiving immunosuppression, can lead to substantial systemic steroid exposure. This paper describes a case of severe iatrogenic Cushing syndrome and tertiary adrenal insufficiency because of this interaction, highlighting the necessity for improved awareness of this phenomenon...
February 25, 2024: Internal Medicine Journal
https://read.qxmd.com/read/38396558/metabolic-and-endocrine-insights-in-donkeys
#34
REVIEW
Francisco J Mendoza, Ramiro E Toribio, Alejandro Perez-Ecija
Donkey medicine is gaining attention due to their increased use as companion animals, in shows, asinotherapy, etc. The increasing demand and unique aspects call for specialized care, requiring new information (physiology, infectious disorders, pharmacology, etc.). Since obesity is common in this species, hyperlipemia, metabolic syndrome and insulin dysregulation (ID) are common disorders in donkeys, in some cases with high mortality, either directly (multiorgan dysfunction) or indirectly due to poor quality of life (chronic laminitis)...
February 10, 2024: Animals: An Open Access Journal From MDPI
https://read.qxmd.com/read/38381834/discovery-of-a-cushing-s-syndrome-protein-kinase-a-mutant-that-biases-signaling-through-type-i-akaps
#35
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/38363816/exploring-the-benefits-of-a-reduced-port-approach-in-robotic-posterior-retroperitoneoscopic-adrenalectomy-a-comparative-study-of-the-two-port-and-three-port-techniques
#36
JOURNAL ARTICLE
Shaimaa Abbas Hussain Dashti, Won Woong Kim, Yu-Mi Lee, Dong Eun Song, Seung Hun Lee, Jung-Min Koh, Tae-Yon Sung, Ki-Wook Chung, Jae Won Cho
Background: Robotic adrenalectomy has become a surgical treatment option for benign and selected malignant adrenal diseases. We aimed to evaluate the eligibility of two-port robotic posterior retroperitoneoscopic adrenalectomy (PRA) as an alternative to the conventional three-port technique by comparing their surgical outcomes. Materials and Methods: This retrospective cohort study compared the clinicopathological factors and surgical outcomes among 197 patients who underwent two-port or three-port robotic adrenalectomy between 2016 and 2020 in a single tertiary center...
February 2024: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://read.qxmd.com/read/38352712/accuracy-of-the-10-%C3%AE-g-desmopressin-test-for-differential-diagnosis-of-cushing-syndrome-a-systematic-review-and-meta-analysis
#37
Rodrigo Rosa Giampietro, Marcos Vinicius Gama Cabral, Elizandra Gomes Pereira, Marcio Carlos Machado, Lucio Vilar, Vania Dos Santos Nunes-Nogueira
UNLABELLED: We evaluated the accuracy of the 10 μg desmopressin test in differentiating Cushing disease (CD) from non-neoplastic hypercortisolism (NNH) and ectopic ACTH syndrome (EAS). A systematic review of studies on diagnostic test accuracy in patients with CD, NNH, or EAS subjected to the desmopressin test obtained from LILACS, PubMed, EMBASE, and CENTRAL databases was performed. Two reviewers independently selected the studies, assessed the risk of bias, and extracted the data...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38352438/loss-of-symmetric-cell-division-of-apical-neural-progenitors-drives-dennd5a-related-developmental-and-epileptic-encephalopathy
#38
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/38343584/uric-acid-metabolic-disorders-in-pituitary-target-gland-axis
#39
REVIEW
Ru Li, Baofeng Wu, Minmin Han, Mengnan Li, Xifeng Yang, Jian Zhang, Yi Zhang, Yunfeng Liu
Uric acid (UA) is the end product of purine metabolism in the human, and the imbalance between production and excretion results in the disturbance of serum uric acid (SUA). There is evidence suggesting that pituitary-target gland hormones can affect UA metabolism through regulating the activity of xanthine oxidase and UA transporters. Related endocrine diseases including thyroid dysfunction, polycystic ovary syndrome, acromegaly and Cushing's syndrome are often accompanied by elevated UA levels. In addition to the direct influence of abnormal hormones, obesity and insulin resistant play a pivotal role...
2024: Diabetes, Metabolic Syndrome and Obesity
https://read.qxmd.com/read/38340623/ectopic-adrenocorticotropic-hormone-secreting-pheochromocytoma-with-severe-metabolic-disturbances-a-case-report
#40
Shangjian Li, Xudong Guo, Hanbo Wang, Ni Suo, Xiuqing Mi, Shaobo Jiang
INTRODUCTION: The occurrence of hypercortisolism resulting from adrenocorticotropic hormone (ACTH)-secreting pheochromocytoma is exceedingly uncommon, with limited documented instances thus far. PRESENTATION OF CASE: We present a case of ectopic ACTH-secreting pheochromocytoma in a patient who suffered from severe metabolic disorders. Our clinical case outlines the diagnostic history, preoperative correction of the patient's metabolic disturbances and surgical strategy for management of a rare ectopic ACTH producing pheochromocytoma...
February 7, 2024: International Journal of Surgery Case Reports
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