Results 61 to 70 of about 3,361,739 (291)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.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
Patient advocacy and DSM-5 [PDF]
BMC Medicine, 2013 The revision of the Diagnostic and Statistical Manual of Mental Disorders (DSM) provides a useful opportunity to revisit debates about the nature of psychiatric classification. An important debate concerns the involvement of mental health consumers in revisions of the classification.
Stein, Dan J, Phillips, Katharine A
openaire +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Acute kidney injury (AKI) is a common but often underrecognized complication in ischemic stroke patients undergoing mechanical thrombectomy, particularly among those with pre‐existing renal impairment. This study evaluated the incidence, risk factors, and clinical impact of AKI in this high‐risk population.
Michał Borończyk +10 more
wiley +1 more source
, 2016 Patient advocacy groups grew out of a need to provide support to and education for patients and to fuel research to better understand diseases and their diagnosis, and treatment options for patients. These organizations have become integral partners with
Seoirse Smith, Laurie M. Savage
core +1 more source
Paramedic patient advocacy: a review and discussion [PDF]
, 2017 Introduction: Patient advocacy is an often encountered term, but one for which no consistent definition exists. Advocacy is a new and developing role of the paramedic that is closely linked to the developing professionalism of paramedicine, along with ...
Ward, Gerard +10 more
core +1 more source
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2018 Background Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization.
Susan Stein +8 more
doaj +1 more source
Journal of Patient-Reported Outcomes, 2022 Objectives Sanfilippo syndrome is a rare multisystem disease with no approved treatments. This study explores caregiver perspectives on the most impactful symptoms and patient-relevant clinical outcomes assessments.
Katherine Ackerman Porter +10 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive brain atrophy has now been widely observed in the chronic stages of moderate–severe traumatic brain injury (msTBI), but there is only coarse information regarding its prevalence and magnitude, and whether rate of atrophy accelerates or attenuates across time. We examined these questions in a Canadian inception cohort from
Robin E. A. Green +6 more
wiley +1 more source
RMD OpenBackground This study aims to assess the prevalence of poor mental health in axial spondyloarthritis (axSpA) and its associated factors in a large sample of patients from the International Map of Axial Spondyloarthritis (IMAS) study from around the globe.
Denis Poddubnyy +9 more
doaj +1 more source