Results 191 to 200 of about 2,414,789 (346)

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Rare disease mimicking multisystem inflammatory syndrome in children. [PDF]

BMC Pediatr
Akar A.
europepmc   +1 more source

Dowling-Degos disease: a case report and clinicopathological correlation of a rare genodermatosis [PDF]

Lai, Shau Kong, Mohd Nasir, Noor 'ain, Wan Ahmad Kammal, Wan Syahira Ellani, Abu, Nasiha, Tak, Nor Akmar, Tan, Yi Jun   +5 more
openalex  

Enhancing rare cardiac disease classification with GAN-augmented supervised and self-supervised learning: a case study on Brugada syndrome

B Zanchi, G Monachino, G Conte, F Faraci
openalex   +1 more source

Rare occurrence of inflammatory bowel disease in a cohort of Han Chinese ankylosing spondylitis patients- a single institute study [PDF]

, 2017
Chrong‐Reen Wang, Chia-Tse Weng, Chung-Ta Lee, Kuo‐Yuan Huang, Sheng‐Min Hsu, Ming-Fei Liu   +5 more
openalex   +1 more source

Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience

, 2023
Richa Madan Lomash, Oleg A. Shchelochkov, Randy J. Chandler, Charles P. Venditti, Anne Pariser, Elizabeth A. Ottinger, Averion Gilberto V., Balakrishnan Krishna, Bönnemann Carsten G., Brooks Philip J., Burden Steven J., Campbell Eggerton, C. Catherine, Choi Eun-Young, Driscoll Claire, Dukhanina Oksana, Ferry Susan, Foley A. Reghan, Hauserman Janelle Geist, Lina Li, Lo C, M Venkata, Manoli Irini, Mendoza Christopher, Oury Julien, Patel Kinjal D, Portero Deanna, Portilla Lili, Rooney Jachinta, Saade Dimah, Sloan Jennifer L., Tambe Mitali, Terse Pramod, Todd Joshua, Toney London, Van Ryzin Carol, Stan Rodica, Vepa Sury, Wagner Erik, Wang Amy, Xin Xu, Zou Yaqun, Zou Yaqun   +42 more
openalex   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Assessing rare disease understanding: a novel disease readiness level framework. [PDF]

Orphanet J Rare Dis
Kitahara K, Kano S.
europepmc   +1 more source

A 23-year-old male patient with Kimura’s disease without renal transplantation: a rare case report from Syria

Hasan Alsmoudi, Mouhammed Sleiay, Ahmad Almohamed, Suaad Hamsho, Ahmad Alhadla, Mohammed Alqreea, Abdulkareem Alakhras   +6 more
openalex   +1 more source

Diagnosis, treatment, and research status of rare diseases related to birth defects

, 2023
Hongjuan Zhao, Chen Du, Guang Yang, Yu Wang   +3 more
openalex   +2 more sources