Results 251 to 260 of about 13,095,395 (361)

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

Interaction of Intraprocedural Antiplatelets and Intravenous Thrombolysis in Acute Intracranial Stenting: RESISTANT Registry Subanalysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction/Objective Acute intracranial stenting during endovascular thrombectomy (EVT) for ischemic stroke requires intraprocedural antiplatelet therapy (APT) to maintain patency. However, the hemorrhagic risk of combining APT with intravenous thrombolysis (IVT) remains uncertain.
Aaron Rodriguez‐Calienes, Leonardo Cruz‐Criollo, Eric Kontowicz, Marta Olivé‐Gadea, Francesco Diana, Johannes Kaesmacher, Adnan Mujanovic, Serdar Geyik, Songul Senadim, Amedeo Cervo, Andrea Salcuni, Mariangela Piano, Manuel Moreu, Alfonso López‐Frías, Ameer E. Hassan, Samantha Miller, Elena Zapata‐Arriaza, Asier de Albóniga‐Chindurza, Mauro Bergui, Stefano Molinaro, João André Sousa, Fábio Gomes, João Sargento‐Freitas, Andrea Alexandre, Alessandro Pedicelli, Jeremy Hofmeister, Paolo Machi, Luca Scarcia, Erwah Kalsoum, Jose Amorim, Torcato Meira, Leonardo Renieri, Francesco Capasso, Daniele Romano, Eduardo Bárcena‐Ruiz, David Seoane, Mohamad Abdalkader, Piers Klein, Thanh N. Nguyen, Catarina Perry da Câmara, Anderson Brito, Nashwa Abdelhakim, Isabel Fragata, Dileep R. Yavagal, Jude H. Charles, Jose Rodriguez Castro, Pedro Vega, Atilla Özcan Özdemir, Zehra Uysal Kocabaş, Stanislas Smajda, Sadiq Al Salman, Jane Khalife, Tudor G. Jovin, Francesco Biraschi, Francesca Richetti, Pedro Castro, Luis Albuquerque, Adnan Siddiqui, Vinay Jaikumar, Pedro Navia, Nikolaos Ntoulias, Marios Psychogios, Mariano Velo, Joaquín Zamarro, Gonzalo de Paco, Yazan Ashouri, Mohammad AlMajali, Juan F. Arenillas, Alicia Sierra, Michele Romoli, João Pedro Marto, Shadi Yaghi, Marc Ribo, Alejandro Tomasello, Manuel Requena, Santiago Ortega‐Gutierrez   +75 more
wiley   +1 more source

Integrating rare diseases into Africa's digital health strategies. [PDF]

PLOS Digit Health
Gamba SF, Magili M.
europepmc   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network. [PDF]

Clin Transl Sci
Chehade M, Meyers S, McCright-Gill T, Gifford R, Sahin M, Shy ME, Manion M, Campbell D, Rothenberg ME, Macaluso M.   +9 more
europepmc   +1 more source

Effects of Add‐On Icosapent Ethyl With Standard Treatment on Functional Outcomes and Inflammatory Biomarkers in Acute Ischemic Stroke: A Blinded Randomized Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ischemic stroke, a major cause of mortality and long‐term disability, results from the abrupt cessation of cerebral blood flow due to vascular occlusion or rupture. Icosapent Ethyl (EPA‐EE), approved for hypertriglyceridemia, has anti‐inflammatory and antithrombotic properties that may lessen ischemic damage.
Mitra Mahmoudi Meymand, Seyed Hossein Aghamiri, Saeed Mohmammad Soleymani, Shadiyeh Bararpoor Poshkohi, Samaneh Masoudi, Hadi Esmaily   +5 more
wiley   +1 more source

The United Nations convention on rare diseases-A framework for research prioritization. [PDF]

Front Public Health
Junaid M, Downs J, Groza T, Lassmann T, Baker S, Stevens K, Keeffe J, Gration D, Newell A, Duckers J, Baynam G.   +10 more
europepmc   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

GREGoR: accelerating genomics for rare diseases. [PDF]

Nature
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, GREGoR Partner Members, Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium.   +33 more
europepmc   +1 more source

Clinical and Modifiable Factors Associated With Disability and Relapse in MOGAD: A Multicentre Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang, Shaoxin Tao, Qiujia Wang, Xiaoyu Xu, Hui Yao, Zheng Liu, Dawei Li, Zhandong Qiu, Jinming Han, Jiangwei Xia, Qi Wang, Jun Sun, Kai Shao, Jiao Li, Shishuang Ruan, Yi Zhong, Jun Guo, Shougang Guo, Yue Huang, Guoliang Chai, Tao Jin, Hongyu Zhou, Junwei Hao, Yinan Zhao   +23 more
wiley   +1 more source