Results 41 to 50 of about 51,767 (241)

Transplantation of GABAergic Interneuron Progenitors Restores Cortical Circuit Function in an Alzheimer's Disease Mouse Model

open access: yesAdvanced Science, EarlyView.
Transplantation of medial ganglionic eminence (MGE) interneuron progenitors into APP/PS1 cortices restored the slow oscillation characteristic of Alzheimer's disease. Donor cells survived, migrated, and matured into functional GABAergic interneurons, forming synaptic connections.
Shinya Yokomizo   +16 more
wiley   +1 more source

Nuclear Imaging for the Diagnosis of Cardiac Amyloidosis in 2021

open access: yesDiagnostics, 2021
Cardiac amyloidosis is caused by the deposition of misfolded protein fibrils into the extracellular space of the heart. The diagnosis of cardiac amyloidosis remains challenging because of the heterogeneous manifestations of the disease.
Weijia Li   +6 more
doaj   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell   +3 more
wiley   +1 more source

Enhanced Sensitivity of a Modified Quaking‐Induced Conversion Diagnostic Test for the Broad Detection of Sporadic and Inherited Prion Diseases: A Retrospective Study

open access: yesAnnals of Neurology, EarlyView.
Objective Quaking‐induced conversion (QuIC) tests, which detect prion‐seeding activity in cerebrospinal fluid (CSF), have markedly advanced the antemortem diagnosis of prion diseases such as Creutzfeldt‐Jakob disease (CJD). These tests provide high diagnostic accuracy and enable timely differentiation from other rapidly progressive neurodegenerative ...
Jennifer Myskiw   +13 more
wiley   +1 more source

Incidence and prevalence of light chain amyloidosis in the United States in 2019–2021 using Optum EHR data

open access: yesScientific Reports
Immunoglobulin light chain amyloidosis (AL amyloidosis) is among the most common forms of systemic amyloidosis. Using electronic health records (EHR) data from the United States, we aimed to estimate the incidence and prevalence of AL amyloidosis over ...
Pedro A. Laires   +7 more
doaj   +1 more source

Beyond Survival in AL amyloidosis: Identifying and Satisfying Patients’ Needs

open access: yesHemato, 2022
The survivorship needs of patients with light-chain (AL) amyloidosis are complex, as is the diagnosis and treatment itself. Early diagnosis is critical in improving patient outcomes; however, given the nonspecific nature of the symptoms, most patients ...
Hamza Hassan, Vaishali Sanchorawala
doaj   +1 more source

Expert Perspective: Diagnosis and Treatment of Castleman Disease

open access: yesArthritis &Rheumatology, EarlyView.
Castleman disease (CD) is a major diagnostic challenge for rheumatologists. Unicentric CD (UCD) involves one enlarged lymph node region, whereas multicentric CD (MCD) involves multiple enlarged lymph node regions. Both UCD and MCD may exhibit a wide range of symptoms that overlap with other immune‐mediated conditions.
Luke Y. C. Chen   +2 more
wiley   +1 more source

A Case of Systemic AL Amyloidosis Diagnosed by Screening Colonoscopy

open access: yesCase Reports in Gastrointestinal Medicine, 2022
Amyloidosis encompasses several diseases associated with deposition of low-molecular-weight proteins in an abnormal configuration. In light-chain amyloidosis (AL), monoclonal free lambda (λ) or kappa (κ) light chains are the amyloid proteins involved and
Lynna Alnimer   +6 more
doaj   +1 more source

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

open access: yesArthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa   +54 more
wiley   +1 more source

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