Results 121 to 130 of about 1,609,120 (298)

Longitudinal deep multi-omics profiling in a CLN3 Δex7/8 minipig model identifies biomarker signatures of disease

Communications Medicine
Background Development of therapies for CLN3 disease, a rare pediatric lysosomal storage disorder, has been hindered by the lack of etiological insights and translatable biomarkers to clinics. Methods We used a deep multi-omics approach to discover blood-
Mitchell J. Rechtzigel, Brittany Lee, Christine Neville, Ting Huang, Ramón Díaz, Alex Rosa Campos, Khatereh Motamedchaboki, Daniel Hornburg, Tyler B. Johnson, Vicki J. Swier, Jill M. Weimer, Jon J. Brudvig   +11 more
doaj   +1 more source

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

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

Medical education gaps in the diagnosis of Fabry disease in the UK: Descriptive findings from a patient survey and specialists’ interviews

Rare
Background: Early diagnosis of Fabry disease (FD) is crucial to initiate treatment and mitigate disease progression but is hindered by the rarity and non-specific symptoms of disease.
Stuart Gaffney, Kamran Iqbal, Phil Dawson, Thomas Kenny   +3 more
doaj   +1 more source

Medical geography and its contribution to the aetiology of rare systemic connective tissue diseases : a thesis presented in partial fulfilment of the requirements for the degree of Master of Arts in Geography at Massey University [PDF]

, 1975
This thesis is in two interrelated parts. Part One traced the historical development of medical geography since the idea of applying a geographical perspective to medical problems was first mooted in 4 B.C.
Borman, Graham Barry
core  

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source