Hereditary Transthyretin Amyloidosis Polyneuropathy.

In the last decade, we have witnessed dramatic improvements in the diagnosis, workup, management, and monitoring of patients with hereditary transthyretin amyloidosis (ATTRv). Updated imaging techniques (e.g.

Incobotulinum Toxin-A in Professional Musicians with Focal Task-Specific Dystonia: A Double Blind, Placebo Controlled, Cross-Over Study.

Background: Musician's focal task-specific dystonia is a complex disorder of fine motor control, with incomplete understanding of its etiology. There have been relatively few trials of botulinum toxin in upper limb task-specific dystonia, and prior studies have yielded variable results, leading to skepticism regarding the utility of this approach in elite performers.

Methods: We conducted a double-blind, placebo-controlled, randomized, cross-over study of incobotulinum toxin-A in 21 professional musicians with focal upper extremity task-specific dystonia affecting performance on their instrument, using a novel paradigm of initial injections followed by booster injections at two- and four-week intervals.

Podcast-Based Medical Education and Content Alignment with National Education Bodies.

Introduction: Despite the rapid expansion of medical education podcasts in the past decade, there are few efforts to characterize the landscape of available content for specific medical specialties. We trialed a method of rigorous characterization for the field of neurology.

Materials And Methods: Using a censoring date of July 25, 2022, we queried the top three podcast platforms for neurology education podcasts: Apple Podcasts, Spotify, and Google Podcasts.

Diagnosis and treatment of hereditary transthyretin amyloidosis with polyneuropathy in the United States: Recommendations from a panel of experts.

Hereditary transthyretin (ATTRv; v for variant) amyloidosis is a rare, multisystem, progressive, and fatal disease in which polyneuropathy is a cardinal manifestation. Due to a lack of United States (US)-specific guidance on ATTRv amyloidosis with polyneuropathy, a panel of US-based expert clinicians convened to address identification, monitoring, and treatment of this disease. ATTRv amyloidosis with polyneuropathy should be suspected in unexplained progressive neuropathy, especially if associated with systemic symptoms or family history.

Clinical Reasoning: A 23-Year-Old Man With Progressive Asymmetric Weakness and Numbness.

We report a case of a 23-year-old man who presented with progressive asymmetric weakness and numbness in his distal extremities over 4 months, with initial symptoms starting days after a coronavirus 2019 (COVID-19) vaccine booster. Initial neurologic examination was notable for distal weakness of both upper and lower extremities that was more pronounced on the left, complete areflexia, and decreased distal sensation to pinprick and vibration without loss of proprioception. Nerve conduction studies demonstrated a generalized, non-length-dependent, sensorimotor, demyelinating polyneuropathy, with conduction block seen in multiple compound muscle action potentials.

Disparate healthcare access and telehealth-based hybrid consultations during the COVID-19 pandemic.

Background: The coronavirus disease-2019 pandemic led to rapid expansion of telehealth services. This was speculated to improve healthcare access among underserved populations, including individuals unable to take time off work or arrange transportation.

Objective: We completed a quality improvement project to evaluate the feasibility of hybrid consultations that combined televisits and abbreviated in-person visits for neuromuscular referrals.

Multimodal deep learning for Alzheimer's disease dementia assessment.

Worldwide, there are nearly 10 million new cases of dementia annually, of which Alzheimer's disease (AD) is the most common. New measures are needed to improve the diagnosis of individuals with cognitive impairment due to various etiologies. Here, we report a deep learning framework that accomplishes multiple diagnostic steps in successive fashion to identify persons with normal cognition (NC), mild cognitive impairment (MCI), AD, and non-AD dementias (nADD).

The Nature of Interruptions Among Inpatient Residents: a Time-Motion Observation-Based Mixed Methods Study.

Interruptions are germane to inpatient medical practice but carry the consequences of reduced error prevention, psychological stress, and impaired knowledge consolidation among trainees. In this mixed methods study, we captured 172 task changes via time-motion observations of four residents on a general neurology service and completed semi-structured interviews with the same group. Twenty-five percent of task changes were due to interruptions, the majority via pager communications, and only 2% required urgent clinical attention.

Optimizing the operation of an electrodiagnostic laboratory during the COVID-19 pandemic: A 6-month single-center experience.

Introduction/aims: The initial surge of the coronavirus disease-2019 (COVID-19) pandemic in early 2020 led to widespread cancellation of elective medical procedures in the United States, including nonurgent outpatient and inpatient electrodiagnostic (EDx) studies. As certain regions later showed a downtrend in daily new cases, EDx laboratories have reopened under the guidance of the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM). In our reopening experience guided by the AANEM, we measured relevant outcomes to determine further workflow adaptations.

COVID-19 in patients with myasthenia gravis.

Introduction: Coronavirus disease 2019 (COVID-19) has rapidly become a global pandemic, but little is known about its potential impact on patients with myasthenia gravis (MG).

Methods: We studied the clinical course of COVID-19 in five hospitalized patients with autoimmune MG (four with acetylcholine receptor antibodies, one with muscle-specific tyrosine kinase antibodies) between April 1, 2020-April 30-2020.

Results: Two patients required intubation for hypoxemic respiratory failure, whereas one required significant supplemental oxygen.

Neuropathy Associated with Systemic Amyloidosis.

Peripheral neuropathy occurs in the setting of both hereditary and acquired amyloidosis. The most common form of hereditary amyloidosis is caused by 1 of 140 mutations in the transthyretin (TTR) gene, which can lead to neuropathic hereditary transthyretin amyloidosis (hATTR; previously referred to as transthyretin familial amyloid polyneuropathy), whereas acquired immunoglobulin light chain (AL) amyloidosis is the most common acquired form. Patients typically present with a sensorimotor polyneuropathy, focal neuropathy such as carpal tunnel syndrome, or autonomic neuropathy.

A Clinician's Approach to Peripheral Neuropathy.

Peripheral neuropathies are a group of disorders that affect the peripheral nervous system, for which hundreds of etiologies have been identified. This article presents a stepwise approach to the evaluation and workup of peripheral neuropathy, which starts with a detailed history of symptoms, family and occupational history, and a neurological as well as general physical exam. Pattern recognition of various neuropathies can help to build a differential diagnosis based on the presentation.

Neuromuscular complications of HIV infection.

With the introduction of combination antiretroviral therapy, human immunodeficiency virus (HIV)-infected individuals are living longer, and are commonly confronted with chronic neuromuscular complications. The spectrum of neuromuscular disorders in patients living with HIV infection is wide, and is caused by HIV per se and its products, particular antiretroviral drugs, or a combination of both. The purpose of this chapter is to review peripheral nervous system disorders in the setting of HIV infection, and to provide a general approach to diagnosis and management of these disorders.

Spotlight on botulinum toxin and its potential in the treatment of stroke-related spasticity.

Poststroke spasticity affects up to one-half of stroke patients and has debilitating effects, contributing to diminished activities of daily living, quality of life, pain, and functional impairments. Botulinum toxin (BoNT) is proven to be safe and effective in the treatment of focal poststroke spasticity. The aim of this review is to highlight BoNT and its potential in the treatment of upper and lower limb poststroke spasticity.