Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein +13 more
wiley +1 more source
Pharmacist workforce training in pharmacogenomics with a focus on rural and underserved areas. [PDF]
Front GenetMohamed M +3 more
europepmc +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
Situações significativas no espaço-contexto da hemodiálise: o que dizem os usuários de um serviço?
Revista Brasileira de EnfermagemEstudo de abordagem qualitativa realizado em uma clínica de hemodiálise, no interior do Paraná, com pacientes em tratamento hemodialítico. O objetivo consistiu em conhecer situações significativas para o paciente renal crônico vivenciadas no espaço ...
Vanusa Pietrovsk +1 more
doaj
Assessing a facilitated social network intervention for health outcomes in lonely and socially isolated people: the pragmatic, cluster-randomized PALS trial. [PDF]
Front Public HealthBand R +9 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel +8 more
wiley +1 more source
How foreign and domestic pressures on NGOs shape service provision for HIV in Tajikistan: a qualitative analysis. [PDF]
BMC Public HealthMcCrimmon T +7 more
europepmc +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source