Results 141 to 150 of about 5,855,669 (305)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Turning evidence into recommendations: Protocol for a study of guideline development groups [PDF]
Background: Health care practice based on research evidence requires that evidence is synthesised, and that recommendations based on this evidence are implemented.
Berentson-Shaw, J +8 more
core
Guidelines for Stroke Critical Rehabilitation
Stroke is a disease in which cerebral blood vessels are damaged by a variety of causes, producing focal or overall brain tissue damage. With the acceleration of population aging and urbanization, stroke has become the leading cause of death and ...
PAN Yu +18 more
doaj
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
DEP CG7 Ambulant mobilty aids and standing positioning equipment
This clinical guideline for professional in using ambulant mobility aids and standing positioning equipment.Aged and Disability ...
Clinical Reference Group
core
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
DEP CG-4 Supportive Seating and Alternative Position Equipment
A clinical guideline for professionals to use for supportive seating and alternative positioning equipment.Aged and Disability ...
Clinical Reference Group
core
Added Prognostic Value of EEG Reactivity in Comatose Patients Following Cardiac Arrest
ABSTRACT Objectives To evaluate the added prognostic value of EEG reactivity for favorable outcome compared with background analysis during and after targeted temperature management (TTM). Methods Prospective observational cohort study of comatose post–cardiac arrest patients admitted to a single academic center between 2017 and 2022, all undergoing ...
Sarah Caroyer +11 more
wiley +1 more source
DEP CG-8 Personal emergency response system
Clinical guideline for professional using a personal emergency response systemAged and Disability ...
Clinical Reference Group
core

