Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
New perspectives on difficult-to-treat tuberculosis based on old therapeutic approaches
International Journal of Infectious Diseases, 2020 Tuberculosis (TB) is an important clinical and public health issue worldwide. Despite improved treatment success rates following the introduction of antibiotics in daily clinical practice, the expected decline in incidence has been hampered by HIV ...
Michele Mondoni +2 more
doaj +1 more source
ISSLS PRIZE IN BIOENGINEERING SCIENCE 2019: biomechanical changes in dynamic sagittal balance and lower limb compensatory strategies following realignment surgery in adult spinal deformity patients. [PDF]
, 2019 Study designA longitudinal cohort study.ObjectiveTo define a set of objective biomechanical metrics that are representative of adult spinal deformity (ASD) post-surgical outcomes and that may forecast post-surgical mechanical complications.
Bailey, Jeannie F +8 more
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Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Assessing Hospital Surgical Functions in Korea: A Functional Analysis Using the Disease Control Priorities, 3rd Edition Essential Surgery List (2013-2022) [PDF]
Journal of Preventive Medicine and Public HealthObjectives: Korea has achieved near-universal health coverage through a predominantly privatized healthcare system. However, this structural fragmentation has created significant ambiguity regarding the roles of different healthcare organizations ...
Haibin Bai, Jin-Hwan Kim, Yukyung Park
doaj +1 more source
New Hampshire University Research and Industry Plan: A Roadmap for Collaboration and Innovation [PDF]
, 2016 This University Research and Industry plan for New Hampshire is focused on accelerating innovation-led development in the state by partnering academia’s strengths with the state’s substantial base of existing and emerging advanced industries.
Keen Point Consulting, TEConomy Partners
core +1 more source
Digital Orthopaedics: A Glimpse Into the Future in the Midst of a Pandemic. [PDF]
, 2020 BackgroundThe response to COVID-19 catalyzed the adoption and integration of digital health tools into the health care delivery model for musculoskeletal patients. The change, suspension, or relaxation of Medicare and federal guidelines enabled the rapid
Ast, Michael P +9 more
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Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz +11 more
wiley +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
A Growing Hole in the Safety Net: Physician Charity Care Declines Again [PDF]
, 2006 Examines reasons for the decline in the number of physicians providing free or reduced cost health care in proportion to the number of uninsured Americans, in the last decade.
Jessica H. May, Peter J. Cunningham
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