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https://www.readbyqxmd.com/read/27913610/whole-exome-sequencing-of-thymic-neuroendocrine-tumor-with-ectopic-acth-syndrome
#1
Yanli Li, Ying Peng, Xiuli Jiang, Yulong Cheng, Weiwei Zhou, Tingwei Su, Jing Xie, Xu Zhong, Dalong Song, Luming Wu, Liwen Fan, Min Li, Jie Hong, Weiqing Wang, Guang Ning, Yanan Cao
OBJECTIVE: Thymic neuroendocrine tumor is the second-most prevalent cause of ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS), which is a rare disease characterized by ectopic ACTH oversecretion from nonpituitary tumors. However, the genetic abnormalities of thymic neuroendocrine tumors with EAS remain largely unknown. We aim to elucidate the genetic abnormalities and identify the somatic mutations of potential tumor-related genes of thymic neuroendocrine tumors with EAS by whole exome sequencing...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27906551/ald1613-a-novel-long-acting-monoclonal-antibody-to-control-acth-driven-pharmacology
#2
Andrew L Feldhaus, Katie Anderson, Benjamin Dutzar, Ethan Ojala, Patricia Dianne McNeill, Pei Fan, Jenny Mulligan, Sam Marzolf, Charlie Karasek, Michelle Scalley-Kim, Erica Stewart, Jens Billgren, Vanessa Rubin, Kathleen Schneider, David Jurchen, Kathy Snow, Shaun Barnett, Barbara Bengtsson, Brian Baker, John A Latham, Dan Allison, Leon F Garcia-Martinez
ACTH is the primary regulator of adrenal glucocorticoid production. Elevated levels of ACTH play a critical role in disease progression in several indications including congenital adrenal hyperplasia and Cushing's disease. We have generated a specific, high affinity, neutralizing monoclonal antibody (ALD1613) to ACTH. In vitro, ALD1613 neutralizes ACTH-induced signaling via all five melanocortin receptors and inhibited ACTH-induced cAMP accumulation in a mouse adrenal cell line (Y1). ALD1613 administration to wild-type rats significantly reduced plasma corticosterone levels in a dose dependent manner...
December 1, 2016: Endocrinology
https://www.readbyqxmd.com/read/27906547/late-diagnosis-of-pomc-deficiency-and-in-vitro-evidence-of-residual-translation-from-allele-with-c-11c-a-mutation
#3
Aleksandra S Anisimova, Petr M Rubtsov, Kseniya A Akulich, Sergey E Dmitriev, Elena Frolova, Anatoly Tiulpakov
CONTEXT: Loss-of-function mutations in the POMC gene are associated with the syndrome of adrenal insufficiency, obesity and red hair. We describe here a case of POMC deficiency, in which adrenal insufficiency was not treated until the fourth year of life. One of the disease-causative POMC mutations was characterized in vitro using a new approach. CASE DESCRIPTION: A boy presented in the first year of life with red hair, growth acceleration, moderate obesity and recurrent cholestasis, which was followed by two episodes of hypoglycemia at ages of 1...
December 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27903577/adrenal-cushing-syndrome-with-detectable-acth-from-an-unexpected-source
#4
Thinzar M Lwin, Nehal Galal, Shweta Gera, Jennifer L Marti
Mixed corticomedullary adrenal tumours (MCMT) are rare. We describe the second reported case of a male patient presenting with hypertension and Cushing syndrome with MCMT. A man aged 48 years presented with hypertension and signs of Cushing syndrome. 24-hour urine cortisol was elevated, with detectable adrenocorticotropic hormone (ACTH). A high-dose dexamethasone suppression test indicated an adrenal or ectopic Cushing syndrome. Plasma metanephrines were normal. A 3 cm left adrenal mass was identified without potential ectopic sources of ACTH on imaging...
November 30, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27901643/bilateral-testicular-tumors-resulting-in-recurrent-cushing-s-syndrome-after-bilateral-adrenalectomy
#5
Troy Puar, Manon Engels, Antonius E van Herwaarden, Fred C G J Sweep, Christina Hulsbergen-van de Kaa, Karin Kamphuis-van Ulzen, Vasileios Chortis, Wiebke Arlt, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten, Ad R M M Hermus
CONTEXT: Recurrence of hypercortisolism in patients after bilateral adrenalectomy for Cushing's disease is extremely rare. PATIENT: We present a rare case of a 27-year-old man who previously underwent bilateral adrenalectomy for Cushing's disease with complete clinical resolution. Cushingoid features recurred 12 years later, along with bilateral testicular enlargement. Hormonal tests confirmed ACTH-dependent Cushing's. Surgical resection of the testicular tumors led to clinical and biochemical remission...
November 30, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27896066/acth-therapy-for-west-syndrome-with-severe-hemophilia-a
#6
Kazuo Kubota, Yoriko Kinomura, Takahiro Yamamoto, Michio Ozeki, Minako Kawamoto, Norio Kawamoto, Toshiyuki Fukao
Hemophilia A is an X-linked recessive disorder caused by factor VIII deficiency, which is an important factor in the coagulation system. Here, we describe a 1-year-old boy with hemophilia A who developed West syndrome (WS). Recombinant factor VIII was administered during adrenocorticotropic hormone (ACTH) therapy to prevent intracranial hemorrhage. Infusion of factor VIII at fixed intervals is useful for the safe administration of ACTH therapy for patients with WS with severe hemophilia A. A coagulation screening test should be performed before ACTH therapy...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27894924/antidepressant-like-effects-exerted-by-the-intranasal-administration-of-a-glucagon-like-peptide-2-derivative-containing-cell-penetrating-peptides-and-a-penetration-accelerating-sequence-in-mice
#7
Sachie Sasaki-Hamada, Ryuji Nakamura, Yusuke Nakao, Toshiki Akimoto, Emi Sanai, Mio Nagai, Michiko Horiguchi, Chikamasa Yamashita, Jun-Ichiro Oka
The intracerebroventicular (i.c.v.) administration of glucagon-like peptide-2 (GLP-2) to rodents was shown to have antidepressant-like effects in imipramine-resistant depression-model mice. In order to utilize GLP-2 as a clinical treatment tool for depression, we herein focused on the intranasal delivery that is non-invasive approach, because the i.c.v. administration is invasive and impractical. In the present study, we prepared a GLP-2 derivative containing cell penetrating peptides (CPPs) and a penetration accelerating sequence (PAS) (PAS-CPPs-GLP-2) for the intranasal (i...
November 25, 2016: Peptides
https://www.readbyqxmd.com/read/27894193/currently-used-and-investigational-drugs-for-cushing%C3%A2-s-disease
#8
Denis Ciato, Aizhar G Mumbach, Marcelo Paez-Pereda, Günter K Stalla
Cushing's disease (CD) is caused by a corticotroph adenoma of the pituitary gland that secretes excess adrenocorticotropic hormone (ACTH) causing increased morbidity and mortality. Surgery is the treatment of choice, but is not always successful. Alternatives include radiotherapy, adrenal surgery, and pharmaceutical therapy. The latter is increasingly gaining momentum due to the recent development of compounds that reduce hypercortisolaemia or its symptoms, acting through different mechanisms. Areas covered: In this article, the authors provide a complete overview of the treatment options for Cushing´s disease, including adrenal-directed, tumor-targeted, and peripheral therapies that are currently used or in development, and discuss their potential advantages and limitations...
November 29, 2016: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/27893293/prevelence-of-primary-aldosteronism-in-an-urban-hypertensive-population
#9
Sandi-Jo Galati, Khadeen C Cheesman, Ryan Springer-Miller, Sarah M Hopkins, Lawrence Krakoff, Emilia Bagiella, Rachel A Zhuk, Tiffany K Ying, Chelsey Amer, Michael K Boyajian, W B Inabnet, Alice C Levine
OBJECTIVE: To determine the prevalence of primary aldosteronism (PA) in hypertensive patients presenting to the primary care clinic at The Mount Sinai Hospital, regardless of the degree of hypertension and to identify clinical criteria that should prompt screening for PA. METHODS: An aldosterone:renin ratio (ARR, cutoff ≥20, with plasma aldosterone concentration [PAC] ≥10 and suppressed renin) was used to prospectively screen 296 hypertensive patients (blood pressure [BP] ≥140/90) over the age of 18 from August 2012 through May 2013...
November 2016: Endocrine Practice
https://www.readbyqxmd.com/read/27888772/adrenocortical-sensitivity-moderated-by-ongoing-stress-predicts-drinking-intensity-in-alcohol-dependent-men
#10
Bryon Adinoff, David Leonard, Julianne Price, Martin A Javors, Robrina Walker, E Sherwood Brown, Hong Xiao, Uma Rao
Allostatic load from both environmental stressors and persistent glucocorticoid secretion has been associated with disease severity in alcohol dependence. Heightened relapse risk and/or drinking severity, in particular, may be a reaction to alcohol- and withdrawal-induced changes in physiological stress response systems coupled with ongoing life stress, although their shared contributions upon drinking severity have not been assessed. To investigate the combined contribution of hypothalamic-pituitary-adrenal (HPA) reactivity and environmental stressors (e...
November 5, 2016: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/27886020/cranial-electrotherapy-stimulation-affects-mood-state-but-not-levels-of-peripheral-neurotrophic-factors-or-hypothalamic-pituitary-adrenal-axis-regulation
#11
Hee-Tae Roh, Wi-Young So
Cranial electrotherapy stimulation (CES) is reported to aid in relieving symptoms of depression and anxiety, though the mechanism underlying this effect remains unclear. Therefore, the present study aimed to evaluate changes in the hypothalamic-pituitary-adrenal (HPA) axis response and levels of neurotrophic factors, as well as changes in mood state, in patients undergoing CES therapy. Fifty healthy postmenopausal women were randomly assigned to either a Sham CES group (n = 25) or an Active CES group (n = 25)...
November 18, 2016: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/27879325/cushing-syndrome-in-a-child-due-to-pro-opiomelanocortin-pomc-secretion-from-a-yolk-sac-tumor
#12
Evelien Gevers, Suzanne Meredith, Pratik Shah, John Torpiano, Catherine Peters, Neil Sebire, Olga Slater, Anne White, Mehul Datani
CONTEXT: Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. CASE DESCRIPTION: We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated...
November 22, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27872046/pituitary-dysfunction-after-traumatic-brain-injury-are-there-definitive-data-in-children
#13
REVIEW
Paula Casano-Sancho
In the past decade, several studies in adults and children have described the risk of pituitary dysfunction after traumatic brain injury (TBI). As a result, an international consensus statement recommended follow-up on the survivors. This paper reviews published studies regarding hypopituitarism after TBI in children and compares their results. The prevalence of hypopituitarism ranges from 5% to 57%. Growth hormone (GH) and ACTH deficiency are the most common, followed by gonadotropins and thyroid-stimulating hormone...
November 21, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27871026/copeptin-a-potential-endocrine-surrogate-marker-of-cck-4-induced-panic-symptoms
#14
Cüneyt Demiralay, Agorastos Agorastos, Alexander Yassouridis, Holger Jahn, Klaus Wiedemann, Michael Kellner
Intravenous cholecystokinin-tetrapeptide (CCK-4) administration reliably and dose-dependently provokes panic anxiety in man, accompanied by adrenocorticotropic hormone (ACTH) and cortisol release. Preclinical findings suggest that behavioral and endocrine effects of CCK-4 are mediated via corticotropin-releasing hormone (CRH) release. Anxiogenic stimulation of the central CCK-receptors in man was shown to increase as well vasopressin (AVP), which acts synergistically with CRH as pituitary-adrenocortical axis stimulator during stress...
November 8, 2016: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/27869874/-pharmacological-treatment-in-adrenal-cushing-s-syndrome
#15
Antonio Stigliano, Lidia Cerquetti, Vincenzo Toscano
ACTH-independent adrenal Cushing's syndrome is the least common form of endogenous hypercortisolism. Recently, advances in genetics have allowed the description of several forms different to pathogenetic etiology, morphostructural characteristics and evolution towards the hypercortisolism. Alongside these, the adrenocortical carcinoma is also frequently responsible of a hypercortisolism clinical picture. The availability of steroidogenesis inhibitors, such as metyrapone and ketoconazole, provides to endocrinologist a therapeutic chance against different metabolic disorders sustained by hypercortisolism...
November 2016: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/27867043/acute-social-stress-induced-immunomodulation-in-pigs-high-and-low-responders-to-acth
#16
Elodie Bacou, Karine Haurogné, Grégoire Mignot, Marie Allard, Laurence De Beaurepaire, Jordan Marchand, Elena Terenina, Yvon Billon, Julien Jacques, Jean-Marie Bach, Pierre Mormède, Julie Hervé, Blandine Lieubeau
Pig husbandry is known as an intensive breeding system, piglets being submitted to multiple stressful events such as early weaning, successive mixing, crowding and shipping. These stressors are thought to impair immune defences and might contribute, at least partly, to the prophylactic use of antibiotics. Robustness was recently defined as the ability of an individual to express a high-production potential in a wide variety of environmental conditions. Increasing robustness thus appears as a valuable option to improve resilience to stressors and could be obtained by selecting piglets upon their adrenocortical activity...
November 17, 2016: Physiology & Behavior
https://www.readbyqxmd.com/read/27865872/thymic-hyperplasia-after-treatment-of-acth-dependent-cushing-s-syndrome-can-be-mistaken-for-a-thymic-epithelial-tumor
#17
Jaydira Del Rivero, Chul Kim, Mary Eid, Mark A Ahlman, Lynnette Nieman, Arun Rajan
No abstract text is available yet for this article.
November 16, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27864050/ancestry-trumps-experience-transgenerational-but-not-early-life-stress-affects-the-adult-physiological-stress-response
#18
Gail L McCormick, Travis R Robbins, Sonia A Cavigelli, Tracy Langkilde
Exposure to stressors can affect an organism's physiology and behavior as well as that of its descendants (e.g. through maternal effects, epigenetics, and/or selection). We examined the relative influence of early life vs. transgenerational stress exposure on adult stress physiology in a species that has populations with and without ancestral exposure to an invasive predator. We raised offspring of eastern fence lizards (Sceloporus undulatus) from sites historically invaded (high stress) or uninvaded (low stress) by predatory fire ants (Solenopsis invicta) and determined how this different transgenerational exposure to stress interacted with the effects of early life stress exposure to influence the physiological stress response in adulthood...
November 15, 2016: Hormones and Behavior
https://www.readbyqxmd.com/read/27857838/hyponatraemia-secondary-to-nivolumab-induced-primary-adrenal-failure
#19
Harris Trainer, Paul Hulse, Claire E Higham, Peter Trainer, Paul Lorigan
: Checkpoint inhibitors, such as ipilimumab and pembrolizumab, have transformed the prognosis for patients with advanced malignant melanoma and squamous non-small-cell lung cancer, and their use will only expand as experience is gained in a variety of other malignancies, for instance, renal and lymphoma. As the use of checkpoint inhibitors increases, so too will the incidence of their unique side effects, termed immune-related adverse events (irAEs), which can affect dermatological, gastrointestinal, hepatic, endocrine and other systems...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27857836/refractory-hypoglycemia-in-a-patient-with-functional-adrenal-cortical-carcinoma
#20
Katia Regina Marchetti, Maria Adelaide Albergaria Pereira, Arnaldo Lichtenstein, Edison Ferreira Paiva
: Adrenacarcinomas are rare, and hypoglycemic syndrome resulting from the secretion of insulin-like growth factor II (IGF-II) by these tumors have been described infrequently. This study describes the case of a young woman with severe persistent hypoglycemia and a large adrenal tumor and discusses the physiopathological mechanisms involved in hypoglycemia. The case is described as a 21-year-old woman who presented with 8 months of general symptoms and, in the preceding 3 months, with episodes of mental confusion and visual blurring secondary to hypoglycemia...
2016: Endocrinology, Diabetes & Metabolism Case Reports
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