Results 51 to 60 of about 1,089,127 (271)

Recent Updates on the Diagnosis and Management of Cushing's Syndrome [PDF]

Endocrinology and Metabolism, 2018
Cushing's syndrome, a potentially lethal disorder characterized by endogenous hypercortisolism, may be difficult to recognize, especially when it is mild and the presenting features are common in the general population.
Lynnette K. Nieman
doaj   +1 more source

Adrenocorticotropic Hormone in the Whale [PDF]

Nature, 1951
APART from a verbal communication1 on the isolation of adrenocorticotropic hormone from whale pituitaries, nothing has to our knowledge been published on the adrenocorticotropic principle of the whale. We therefore wish to report in brief the results of our first investigations into the subject.
F, BOE, H, HOLTERMANN, S, SALVESEN, K F, STOA, A, SVERDRUP   +4 more
openaire   +2 more sources

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Ectopic Adrenocorticotropic Hormone–Secreting Metastatic Pancreatic Neuroendocrine Tumor Initially Presenting as Gastrinoma: A Case Report

Annals of Internal Medicine: Clinical Cases
Pancreatic neuroendocrine tumors (pNETs) account for 1% to 2% of all pancreatic malignancies; approximately one-third are associated with hormone secretion which can result in a range of symptoms. It is rare for pNETs to transform from secreting one type
Harshitha Dudipala, Matthew Kulke, Sara Meibom, Hussein Assi   +3 more
doaj   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

An Atraumatic Symphysiolysis with a Unilateral Injured Sacroiliac Joint in a Patient with Cushing’s Disease: A Loss of Pelvic Stability Related to Ligamentous Insufficiency?

Case Reports in Orthopedics, 2016
Glucocorticoids are well known for altering bone structure and elevating fracture risk. Nevertheless, there are very few reports on pelvic ring fractures, compared to other bones, especially with a predominantly ligamentous insufficiency, resulting in a ...
Andreas Höch, Philipp Pieroh, Faramarz Dehghani, Christoph Josten, Jörg Böhme   +4 more
doaj   +1 more source

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency

Medicine, 2016
BackgroundCommon variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B subunit 2 (NFKB2) gene.
Chuan Shi, Fen Wang, Anli Tong, Xiao-Qian Zhang, Hong-Mei Song, Zheng Liu, Wei Lyu, Yue-Hua Liu, Wei-Bo Xia   +8 more
semanticscholar   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

Adrenocorticotropic hormone-producing pheochromocytoma: analysis of clinical cases

Ожирение и метаболизм, 2015
Ectopic secretion of ACTH from non-pituitary tumors, referred to as ectopic ACTH syndrome (EAS), accounts for about 10–20% of Cushing’s syndrome (CS). Ectopic hormone-secreting pheochromocytomas (Pheo) are rare.
Evgeniya Ivanovna Marova, Iya Aleksandrovna Voronkova, Anastasiya Mikhaylovna Lapshina, Svetlana Dmitrievna Arapova, Nikolay Sergeevich Kuznetsov, Lyudmila Yakovlevna Rozhinskaya, Vladimir Anatol'evich Zhivotov, Oleg Borisovich Zharkov, Larisa Evseevna Gurevich, Galina Aleksandrovna Polyakova   +9 more
doaj   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source