Neurology Alert
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Nerve Disorders from Mutations in the BSCL2 Gene
The neuromuscular syndromes caused by BSCL2 gene mutations may mimic several other disorders, including Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis.
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Molecular and Cellular Correlates of Human Nerve Regeneration
Specific and objective measures of improvement after carpal tunnel decompression (i.e., electrodiagnostic testing, somatosensory function, and intraepidermal nerve fiber density) also correlated with upregulation of ADCYAP1/PACAP genes. These genes may be potential therapeutic targets in the future.
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Dermatomyositis Sine Dermatitis Is an Important Clinical Entity
Dermatomyositis is an autoimmune disorder of skeletal muscle associated with a variety of auto-antibodies and specific muscle pathology but it may not have a skin rash. Muscle pathology and antibody determinations are important for accurate diagnosis and treatment.
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Randomized Diagnostic Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
The results of this study indicate that first-line genome sequencing in pediatric patients with suspected genetic white matter disease is more diagnostically efficient, defined as higher diagnostic efficacy and shorter time to diagnosis, than current standard of care approaches.
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Plasma Phospho-Tau217 Is a Promising Alzheimer’s Disease Biomarker
Validation and replication of findings in the use of the blood biomarker phospho-tau 217 for the diagnosis of Alzheimer’s disease holds out the possibility for a new era in the early diagnosis and treatment of this debilitating illness.
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Ticagrelor Added to Aspirin Reduces Long-Term Risk of Recurrent Stroke or Death After Ischemic Stroke or TIAs
The Acute Stroke or Transient Ischemic Attack Treated with Ticagrelor and ASA for Prevention of Stroke and Death (THALES) study was designed to test the hypothesis that 30-day treatment with ticagrelor and aspirin would be superior to aspirin alone in reducing the risk of subsequent stroke or death in patients who had a non-cardioembolic ischemic stroke or transient ischemic attack.
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COVID-19 Infection Increases Stroke Risk by Almost Eight Times the Stroke Risk with Influenza
It is well documented that influenza epidemics are associated with an increased risk of ischemic stroke and myocardial infarction, as are all systemic inflammatory disorders. Investigators at Weill Cornell Medicine wanted to determine if coronavirus infection induced a higher risk of ischemic stroke than other viral infections, such as influenza.
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Mobile Stroke Units: What Is the Best Way to Use Them?
A recent advance in ischemic stroke treatment is the mobile stroke unit, an ambulance outfitted with specialized equipment, computed tomography for brain imaging, and a specialized team with a stroke neurologist available either onboard or via telemedicine. Intravenous thrombolytics can be administered at the scene with the patient on the ambulance.
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Should Patients with Ischemic Stroke and Large Vessel Occlusions Go Directly to Endovascular Thrombectomy?
Endovascular mechanical thrombectomy has become the standard treatment for patients with acute ischemic stroke caused by large vessel occlusion in both the anterior and posterior circulations. This is predicated on the ability to perform the procedure in a timely fashion or based on a mismatch between the size of infarction and brain perfusion.