Bilateral Painful Hand Seizures: An Atypical Somatotopic Syndrome.

Painful Hand Seizures are a rarely reported form of secondary sensory seizures (SSS) characterized by painful, bilateral sensorimotor hand involvement and preserved consciousness. We report our case to aid neurologists in recognizing SSS as an atypical presentation of seizures.

Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

Background: Cardiosphere-derived cells (CDCs) ameliorate skeletal and cardiac muscle deterioration in experimental models of Duchenne muscular dystrophy. The HOPE-2 trial examined the safety and efficacy of sequential intravenous infusions of human allogeneic CDCs in late-stage Duchenne muscular dystrophy.

Methods: In this multicentre, randomised, double-blind, placebo-controlled, phase 2 trial, patients with Duchenne muscular dystrophy, aged 10 years or older with moderate upper limb impairment, were enrolled at seven centres in the USA.

Recognition and Management of Neuromuscular Emergencies.

Acute neuromuscular disorders represent an important subset of neurologic consultation requests in the inpatient setting. Although most neuromuscular disorders are subacute to chronic, hospital-based neurologists encounter neuromuscular disorders presenting with rapidly progressive or severe weakness affecting limb movement, respiratory, and bulbar function. Recalling fundamentals of neurologic localization assists in prompt recognition and diagnosis.

Laboratory monitoring of nusinersen safety.

Introduction: This retrospective study reports our tertiary care center's experience with intrathecal nusinersen administration in children and adults with spinal muscular atrophy (SMA).

Methods: We reviewed safety monitoring laboratory results and need for procedural sedation and fluoroscopy-guidance in all SMA patients receiving nusinersen between February 2017 and March 2020.

Results: Fifty-eight patients ages 1 mo- 56 y received 494 nusinersen doses.

Deficits in the Skeletal Muscle Transcriptome and Mitochondrial Coupling in Progressive Diabetes-Induced CKD Relate to Functional Decline.

Two-thirds of people with type 2 diabetes mellitus (T2DM) have or will develop chronic kidney disease (CKD), which is characterized by rapid renal decline that, together with superimposed T2DM-related metabolic sequelae, synergistically promotes early frailty and mobility deficits that increase the risk of mortality. Distinguishing the mechanisms linking renal decline to mobility deficits in CKD progression and/or increasing severity in T2DM is instrumental both in identifying those at high risk for functional decline and in formulating effective treatment strategies to prevent renal failure. While evidence suggests that skeletal muscle energetics may relate to the development of these comorbidities in advanced CKD, this has never been assessed across the spectrum of CKD progression, especially in T2DM-induced CKD.

Clinical Problem-Solving: Fever and Rapidly Progressive Weakness in an Immunocompromised Patient.

Here we report the challenging case of a 41-year-old man with HIV complicated by AIDS and a history of prior neurologic injury from progressive multifocal leukoencephalopathy who presented with headache, fevers, lower extremity weakness, hyperreflexic upper extremities, and diminished lower extremity reflexes. We review the clinical decision-making and differential diagnosis for this presentation as the physical examination evolved and diagnostic testing changed over time.

In vivo kinetic approach reveals slow SOD1 turnover in the CNS.

Therapeutic strategies that target disease-associated transcripts are being developed for a variety of neurodegenerative syndromes. Protein levels change as a function of their half-life, a property that critically influences the timing and application of therapeutics. In addition, both protein kinetics and concentration may play important roles in neurodegeneration; therefore, it is essential to understand in vivo protein kinetics, including half-life.

Mitochondrial pathology in immune and inflammatory myopathies.

Purpose Of Review: Acquired immune and inflammatory myopathies (IIMs) are typically subdivided into dermatomyositis, polymyositis and inclusion body myositis. However, many types of IIMs do not fit well into this scheme. Several myopathologic and autoantibody features of IIMs, that are not considered in standard classifications, are useful for defining individual disorders.

Quantitation of "autophagic flux" in mature skeletal muscle.

Reliable and quantitative assays to measure in vivo autophagy are essential. Currently, there are varied methods for monitoring autophagy; however, it is a challenge to measure "autophagic flux" in an in vivo model system. Conversion and subsequent degradation of the microtubule-associated protein 1 light chain 3 (MAP1-LC3/LC3) to the autophagosome associated LC3-II isoform can be evaluated by immunoblot.

Atherosclerosis, antiphospholipid syndrome, and antiphospholipid antibodies.

In antiphospholipid syndrome (APS) patients, some antiphospholipid antibodies (APA) are directed against negatively-charged phospholipids, while other APA are specific for phospholipid-proteins such as beta2-glycoprotein I (beta2GPI). Increased levels of oxidized low density lipoproteins (oxLDL) are present in atherosclerosis patients and these patients develop anti-oxLDL antibodies. Several studies have reported cross-reactivities between APA and anti-oxLDL antibodies, and some authors have suggested that most APA are specific for oxidized forms of phospholipids.