Results 151 to 160 of about 10,046,523 (395)

Health‐Related Quality of Life in Rare Forms of Childhood‐Onset Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Henri J. D. Schmidt   +11 more
wiley   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake   +12 more
wiley   +1 more source

Oral manifestations in patients with COVID-19 treated in an isolation center in Las Tunas

open access: yesRevista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2021
Background: oral manifestations associated with COVID-19 patients may appear prior to respiratory symptoms, during and after the course of the disease.Objective: to describe the oral manifestations in patients with COVID-19 treated at the “Los Cocos ...
Taimí Santos-Velázquez   +1 more
doaj  

Multi‐Omics Integration for Advancing Glioma Precision Medicine

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia   +4 more
wiley   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer   +14 more
wiley   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein   +7 more
wiley   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel   +5 more
wiley   +1 more source

A review of recent advances in commercial tilapia culture [PDF]

open access: yes, 1987
The paper introduces the tilapias as important culture fish; their classification, breeding habits and general ecology are discussed. The versatility and plasticity of their reproduction and growth are major advantages as well as draw backs in their use ...
Sagua, V.O.
core  

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