Results 51 to 60 of about 56,393 (264)

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
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

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

Post-Mortem Immunohistochemical Evidence of β2-Adrenergic Receptor Expression in the Adrenal Gland [PDF]

, 2019
The evidence from post-mortem biochemical studies conducted on cortisol and catecholamines suggest that analysis of the adrenal gland could provide useful information about its role in human pathophysiology and the stress response.
Alibrandi A., Asmundo A., Baldino G., Cardia L., Macaione V., Malta C., Micali A., Minutoli L., Mondello C., Puzzolo D., Ventura Spagnolo E.   +10 more
core   +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

Effect of posterior hypothalamic knife cuts on the baroreflex and hemorrhage-induced hormonal responses. [PDF]

, 1990
We made posterior hypothalamic knife cuts in rats to transect the fibers of the medial forebrain bundle (MFB) at the level of the mammillary body. The role of the MFB in the baroreflex and hemorrhage-induced hormonal responses was then examined in the ...
Hashimoto, Kozo, Makino, Shinya, Ota, Zensuke   +2 more
core   +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

Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report

Journal of Medical Case Reports, 2010
Introduction Primary pigmented nodular adrenocortical disease is a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome. We report an uncommon primary pigmented nodular adrenocortical disease case presenting with a unilateral ...
Kaltsas Gregory, Chrysikos Dimosthenis T, Markou Athina, Avlonitis Spiros, Pappa Theodora, Zografos George N, Aggeli Chrysanthi, Piaditis George   +7 more
doaj   +1 more source

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

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