Results 51 to 60 of about 33,580 (222)

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +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

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

Cushing's syndrome due to adrenocorticotropic hormone-secreting pheochromocytoma

CHRISMED Journal of Health and Research, 2016
Adrenocorticotropic hormone (ACTH) producing pheochromocytoma is the rare cause of Cushing's syndrome (CS). Herein, we present a 53-year-old female patient with ectopic ACTH-dependent Cushing's syndrome due to pheochromocytoma.
G V Chanukya, Manoj Mengade, Babu Reddy
doaj   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Adrenocorticotropic hormone gel for patients with non-infectious uveitis

American Journal of Ophthalmology Case Reports, 2019
Purpose: To describe the potential role of adrenocorticotropic hormone (ACTH) gel treatment in patients with chronic non-infectious uveitis. Observations: We report the clinical course of three patients with bilateral, non-infectious anterior and ...
Yael Sharon, David S. Chu
doaj   +1 more source

Complete lesion resection and early surgical intervention are favorable factors for long‐term seizure freedom in drug‐resistant epileptic spasms

Epilepsia Open, EarlyView.
Abstract Objective Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long‐term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.
Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo   +7 more
wiley   +1 more source

Internal jugular vein: Peripheral vein adrenocorticotropic hormone ratio in patients with adrenocorticotropic hormone-dependent Cushing′s syndrome: Ratio calculated from one adrenocorticotropic hormone sample each from right and left internal jugular vein during corticotrophin releasing hormone stimulation test

Indian Journal of Endocrinology and Metabolism, 2013
Background: Demonstration of central: Peripheral adrenocorticotropic hormone (ACTH) gradient is important for diagnosis of Cushing′s disease. Aim: The aim was to assess the utility of internal jugular vein (IJV): Peripheral vein ACTH ratio for diagnosis ...
Sachin Chittawar, Saptarshi Bhattacharya, Jai Prakash Sahoo, Siva Prakash, Ashu Seith Bhalla, Devasenathipathy Kandasamy, Arundeep Arora, Nandita Gupta, Nikhil Tandon, Ravinder Goswami, Rajesh Khadgawat, Viveka P Jyotsna, Ashish Kumar Karak, Chandra Sekhar Bal, Ravindra Mohan Pandey, Guresh Kumar, Ariachery C Ammini   +16 more
doaj   +1 more source

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 more
wiley   +1 more source

Harnessing microbial metabolism and nutrition to target the gut–mammary axis for better livestock production and health

iMetaOmics, EarlyView.
The gut–mammary axis integrates intestinal health with mammary function through neural, endocrine, and immune pathways. Nutritional interventions (probiotics, prebiotics, metabolites) improve gut microecology, generating microbial signals that travel via the axis to the mammary gland. There, they relieve inflammation, enhance milk quality and lactation,
Aolong Zhou, Cheng Guo, Mahmoud M. Abdelsattar, Ahmad R. Musa, Mequanint Biks, Abdullahi A. Musa, Shahnaz Rahman, Abera Teshome Aleli, Pei Zhong, Jiawei Zhang, Junwei Cui, Xiyan Kou, Qingyuan Yu, Caijuan Yue, Qin Li, Dan Zhang, Zixuan Peng, Ao Ren, Ziqi Tian, Ziqi Liu, Yaona Zhang, Lili Zhang, Dina Karmallah, Naifeng Zhang, Tao Ma, Yan Tu, Qiyu Diao, Guijie Zhang, Xiaofeng Xu, Yanliang Bi   +29 more
wiley   +1 more source