Results 11 to 20 of about 4,627 (243)

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source

A case of hypogonadtropic hypogonadism due to hypophysitis discovered by secondary male infertility

IJU Case Reports, Volume 6, Issue 1, Page 51-53, January 2023., 2023
Introduction The main causes of secondary male infertility are varicocele and aging. It is rarely caused by adult‐onset hypopituitarism. The onset of hypopituitarism is often due to brain tumors, trauma, surgery, or congenital disorders. Case presentation A 29‐year‐old man was admitted to the hospital with complaints of decreased libido and semen ...
Masatoshi Konishi, Yoko Maegawa, Masaru Tani, Toshihisa Asakura, Yujiro Hayashi, Yoichi Kakuta, Koichi Tsutahara, Kazuhiko Komori, Tetsuya Takao   +8 more
wiley   +1 more source

Investigation of the serum levels of anterior pituitary hormones in male children with autism

Molecular Autism, 2011
Background The neurobiological basis of autism remains poorly understood. The diagnosis of autism is based solely on behavioural characteristics because there are currently no reliable biological markers.
Iwata Keiko, Matsuzaki Hideo, Miyachi Taishi, Shimmura Chie, Suda Shiro, Tsuchiya Kenji J, Matsumoto Kaori, Suzuki Katsuaki, Iwata Yasuhide, Nakamura Kazuhiko, Tsujii Masatsugu, Sugiyama Toshirou, Sato Kohji, Mori Norio   +13 more
doaj   +1 more source

Effect of dynamic and static strength training on hormonal activity in elite boxers

Baltic Journal of Health and Physical Activity, 2020
Background: The aim of this study was to determine hormonal responses to acute and chronic exposure to static and dynamic strength training programs using resistance bands in boxers.
ESER AĞGÖN, ÖZTURK AGIRBAŞ, HAMIT HAKAN ALP, IZZET UÇAN, RECEP GÜRSOY, ANTHONY C. HACKNEY   +5 more
doaj   +1 more source

Synthetic ACTH for Treatment of Glomerular Diseases: A Case Series

Canadian Journal of Kidney Health and Disease, 2022
Rationale: Synthetic adrenocorticotropic hormone (Tetracosactide) has been used in the treatment of refractory glomerular diseases. Literature surrounding the use of this medication is limited to small case series and there is conflicting data on the ...
Arenn Jauhal, Bhanu Prasad, Mathieu Rousseau-Gagnon, Gabriel Ouellet, Michelle A Hladunewich   +4 more
doaj   +1 more source

Basal Glucose Control in Type 1 Diabetes using Deep Reinforcement Learning: An In Silico Validation [PDF]

IEEE journal of biomedical and health informatics 2020, 2020
People with Type 1 diabetes (T1D) require regular exogenous infusion of insulin to maintain their blood glucose concentration in a therapeutically adequate target range. Although the artificial pancreas and continuous glucose monitoring have been proven to be effective in achieving closed-loop control, significant challenges still remain due to the ...
arxiv   +1 more source

Pembrolizumab- and ipilimumab-induced diabetic ketoacidosis and isolated adrenocorticotropic hormone deficiency: a case report

Journal of Medical Case Reports, 2020
Background Several human monoclonal antibodies directed against immune checkpoints, including T lymphocyte antigen 4 and programmed cell death protein 1, have been implemented for cancer treatment in order to promote effector T cell response to tumors ...
Thachanun Porntharukchareon, Borwonkhun Tontivuthikul, Nattaya Sintawichai, Panudda Srichomkwun   +3 more
doaj   +1 more source

Corrigendum: Medullary thyroid cancer. Returning to the need to determine the preoperative basal calcitonin level in patients with thyroid nodular pathology (Endocrine surgery. 2018;12(4). doi: 10.14341/serg10044) [PDF]

Эндокринная хирургия, 2019
A corrigendum on Medullary thyroid cancer. Returning to the need to determine the preoperative basal calcitonin level in patients with thyroid nodular pathology by Elena E. Stanyakina, Ilia S. Romanov, Tatiana T. Kondratieva, Alexander S.
Elena E. Stanyakina, Ilia S. Romanov, Tatiana T. Kondratieva, Alexander S. Krylov, Alexey D. Ryzhkov, Sergey V. Shiryaev   +5 more
doaj   +1 more source

Failure of functional imaging with gallium-68-DOTA-D-Phe1-Tyr3-octreotide positron emission tomography to localize the site of ectopic adrenocorticotropic hormone secretion: a case report

Journal of Medical Case Reports, 2011
Introduction The diagnostic efficacy of biochemical and imaging modalities for investigating the causes of Cushing's syndrome are limited. We report a case demonstrating the limitations of these modalities, especially the inability of functional imaging ...
Jerums George, Cheung Ada S, Gianatti Emily J, Gani Linsey U, MacIsaac Richard J   +4 more
doaj   +1 more source

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Clinical Endocrinology, Volume 98, Issue 1, Page 41-48, January 2023., 2023
Abstract Objective Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow‐up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients.
Selma Waaijers, Agustini Utari, Rick H. A. van der Doelen, Sultana M. H. Faradz, Renate Hensen‐Lodewijk, Andre J. Olthaar, Paul J. Geutjes, Fred C. Sweep, Hedi L. Claahsen‐van der Grinten, Antonius E. van Herwaarden   +9 more
wiley   +1 more source