Results 41 to 50 of about 33,580 (222)

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Eda G. Kabak, Cecilie Videbaek, Marije M. C. Voermans, Björn M. van Geel, Keith van Haren, Stephan Kemp, Diederik van de Beek, Marc Engelen   +7 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

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

New Topics in Vasopressin Receptors and Approach to Novel Drugs: Effects of Vasopressin Receptor on Regulations of Hormone Secretion and Metabolisms of Glucose, Fat, and Protein

Journal of Pharmacological Sciences, 2009
The neurohypophyseal peptide [Arg8]-vasopressin (AVP) is involved in diverse functions such as the regulation of body fluid homeostasis, metabolism, and hormone secretion.
Akito Tanoue
doaj   +1 more source

Adrenocorticotropic Action of Antidiuretic Hormone [PDF]

Circulation, 1960
By means of direct arterial perfusion of the adrenal glands of the hypophysectomized dog, it has been shown that synthetic lysine, arginine and acetyl arginine vasopressins stimulate the adrenal cortex directly to secrete hydrocortisone. Pressor activity and cortisol-stimulating activity were demonstrated to be independent of each other.
openaire   +2 more sources

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Adrenocorticotropic Hormone Secreting Pheochromocytoma Underlying Glucocorticoid Induced Pheochromocytoma Crisis

Case Reports in Endocrinology, 2018
Context. Pheochromocytomas are hormone secreting tumors of the medulla of the adrenal glands found in 0.1–0.5% of patients with hypertension. The vast majority of pheochromocytomas secrete catecholamines, but they have been occasionally shown to also ...
Gil A. Geva, David J. Gross, Haggi Mazeh, Karine Atlan, Iddo Z. Ben-Dov, Matan Fischer   +5 more
doaj   +1 more source

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

Epilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper, Zining Liu, Aristea S. Galanopoulou, Gernot Hlauschek, Benjamin Sinclair, Wai Lam Leung, Stefanie Dedeurwaerdere, Elisabeth Doran, Solomon L. Moshé, David C. Henshall, Ozlem Akman, Pablo M. Casillas‐Espinosa   +11 more
wiley   +1 more source

Ectopic Adrenocorticotropic Hormone–Producing Renal Cell Carcinoma Causing Psychosis in a Patient With Birt-Hogg-Dubé Syndrome

Annals of Internal Medicine: Clinical Cases
This is, to our knowledge, the first-ever recorded case of Birt-Hogg-Dubé syndrome associated with an adrenocorticotropic hormone–secreting renal cell carcinoma.
Talal Alomar, Wishwdeep Dhillon, Rahul Mehan, Guangming Guo, Mohamad H. Horani   +4 more
doaj   +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