Results 201 to 210 of about 7,998,845 (308)

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source

Automated reanalysis of genomic data for rare disease diagnostics at scale. [PDF]

Nat Med
Welland MJ, Ahlquist KD, De Fazio P, Austin-Tse C, Pais L, Wedd L, Bryen S, Rius R, Franklin M, Morrison C, Hall G, Gauthier L, Bloemendal A, Francis DI, Mallett AJ, Mallawaarachchi A, Lockhart PJ, Leventer R, Scheffer IE, Howell KB, Kassahn KS, Scott HS, McGaughran J, Christodoulou J, Thorburn DR, Thompson BA, Patel CV, Smith G, O'Donnell-Luria A, Sadedin S, Rehm HL, Lunke S, Wander J, Samocha KE, Simons C, MacArthur DG, Stark Z.   +36 more
europepmc   +1 more source

Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl, Marika C. Möller, Lindsay Wilson, Anne Vik, Toril Skandsen, Jonas Stenberg, CENTER‐TBI participants and investigators   +6 more
wiley   +1 more source

Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study. [PDF]

PLOS Digit Health
Burgun A, Khnaisser C, Dault R, Ethier JF.   +3 more
europepmc   +1 more source

Inebilizumab in AQP4‐Seropositive NMOSD: One‐Year Follow‐Up From a Multicenter, Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Real‐world evidence on inebilizumab among neuromyelitis optica spectrum disorder (NMOSD) patients is lacking. This study assessed inebilizumab among Chinese patients with aquaporin 4 autoantibody (AQP4‐IgG)‐seropositive NMOSD in a real‐world setting.
Mengcui Gui, Jiayang Zhan, Wei Li, Tao Jin, Dan He, Daishi Tian, Zhijun Li, Jing Lin, Yue Li, Hongyu Zhou, Bitao Bu   +10 more
wiley   +1 more source

Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification. [PDF]

J Med Syst
Bernardi FA, de Oliveira BM, Monsores de Sá N, Alves D, Félix TM.   +4 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Rare diseases, rare presentations

A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs.
Ars, Elisabet||, Torra Balcells, Roser||
openaire   +1 more source

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models. [PDF]

NPJ Genom Med
Boceck D, Laugwitz L, Sturm M, Bezdan D, Gschwind A, Haack TB, Ossowski S.   +6 more
europepmc   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source