A possible role for immunogenetic factors in myositis developing after vaccination in the pre-covid-19 era.

Introduction: Vaccinations have had a transformative impact on public health, reducing the incidence of many infectious diseases and increasing survival. However, there remains uncertainty about the potential of vaccines to trigger autoimmune diseases such as the idiopathic inflammatory myopathies (IIM). Myositis after vaccination (MAV) is a rare clinical entity, but given immunogenetic associations with other adverse events, we explored genetic risk factors, particularly human leukocyte antigen (HLA) alleles and GM/KM immunoglobulin allotypes, that may predispose individuals to develop MAV.

Consensus nomenclature and abbreviation for anti-synthetase syndrome: an IMACS project.

Objectives: The lack of uniform terminology and abbreviations for anti-synthetase syndrome has led to significant challenges in research and clinical practice. This study aimed to establish an international consensus on a standardized nomenclature and abbreviation among a diverse group of global myositis experts and patient representatives.

Methods: This qualitative project was approved by the International Myositis Assessment and Clinical Studies Group (IMACS).

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases.

Long-term motor learning in focal hand dystonia.

Objective: Because focal hand dystonia usually occurs in the over-learned stage, it would be valuable to know long-term motor learning characteristics and underlying pathophysiological features that might predispose to dystonia.

Methods: We conducted a case-control exploratory study of 15 visits over 12 weeks in the non-affected hand of a 4-finger sequence of 8 key presses in eight patients with FHD compared with eight age- and sex-matched, healthy volunteers (HVs). We studied the behavioral data and the physiological changes of the brain, including motor cortical excitability and cortical oscillations.

Eye-Closure Rate Modulation in Blepharospasm.

Background: Blepharospasm (BSP) is a type of focal dystonia and a number of patients with BSP have relatives also affected by BSP. The objective of this study was to quantify eye closure rates during activities of daily living in individuals with BSP and individuals without BSP with and without a first-degree relative with BSP.

Methods: 37 patients with BSP (BSP group), 10 asymptomatic volunteers with a first-degree relative with BSP (RELATIVES group) and 25 asymptomatic volunteers without relatives with BSP (HV group) were recruited.

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.

Background: An understanding of the genetic mechanisms underlying diseases in ancestrally diverse populations is an important step towards development of targeted treatments. Research in African and African admixed populations can enable mapping of complex traits, because of their genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. We aimed to do a comprehensive genome-wide assessment in African and African admixed individuals to better understand the genetic architecture of Parkinson's disease in these underserved populations.

Anti-PL12 Anti-Synthetase Syndrome and Amyotrophic Lateral Sclerosis: A Case Report of a Rare Comorbidity.

BACKGROUND Anti-PL-12 syndrome is a rare form of myositis. Amyotrophic lateral sclerosis (ALS) is the commonest of the motor neuron disorders. However, the 2 conditions have not been reported to occur together in a single individual.

Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration.

We describe evidence of fatty liver disease in patients with forms of motor neuron degeneration with both genetic and sporadic etiology compared to controls. A group of 13 patients with motor neuron disease underwent liver imaging and laboratory analysis. The cohort included five patients with hereditary spastic paraplegia, four with sporadic amyotrophic lateral sclerosis (ALS), three with familial ALS, and one with primary lateral sclerosis.

Rate of sepsis hospitalizations after misdiagnosis in adult emergency department patients: a look-forward analysis with administrative claims data using Symptom-Disease Pair Analysis of Diagnostic Error (SPADE) methodology in an integrated health system.

Objectives: Delays in sepsis diagnosis can increase morbidity and mortality. Previously, we performed a Symptom-Disease Pair Analysis of Diagnostic Error (SPADE) "look-back" analysis to identify symptoms at risk for delayed sepsis diagnosis. We found treat-and-release emergency department (ED) encounters for fluid and electrolyte disorders (FED) and altered mental status (AMS) were associated with downstream sepsis hospitalizations.

Prospective Home-use Study on Non-invasive Neuromodulation Therapy for Essential Tremor.

Highlights: This prospective study is one of the largest clinical trials in essential tremor to date. Study findings suggest that individualized non-invasive neuromodulation therapy used repeatedly at home over three months results in safe and effective hand tremor reduction and improves quality of life for many essential tremor patients.

Background: Two previous randomized, controlled, single-session trials demonstrated efficacy of non-invasive neuromodulation therapy targeting the median and radial nerves for reducing hand tremor.

Botulinum toxin and occupational therapy for Writer's cramp.

Background: Writer's cramp (WC) is a form of focal hand dystonia, for which focal botulinum neurotoxin (BoNT) injections are the current best therapy. Past studies have shown that some types of rehabilitative therapy can be useful. We hypothesized that BoNT together with a specific type of occupational therapy would be better than BoNT alone for treating WC patients comparing the effects with a patient-rated subjective scale.

The effect of cigarette smoking on the clinical and serological phenotypes of polymyositis and dermatomyositis.

Objective: Cigarette smoking is associated with immune-mediated disorders. We explored the contribution of smoking to polymyositis (PM) and dermatomyositis (DM) phenotypes and attempted to determine whether cigarette smoking effects differ by race and genotype.

Methods: Associations of tobacco smoking with disease features, autoantibodies, HLA types, and race were evaluated using multiple logistic regressions in 465 patients.

Can a collaborative healthcare network improve the care of people with epilepsy?

New opportunities are now available to improve care in ways not possible previously. Information contained in electronic medical records can now be shared without identifying patients. With network collaboration, large numbers of medical records can be searched to identify patients most like the one whose complex medical situation challenges the physician.

A multicenter, prospective, single arm, open label, observational study of sTMS for migraine prevention (ESPOUSE Study).

Objective To evaluate the efficacy and tolerability of single pulse transcranial magnetic stimulation (sTMS) for the preventive treatment of migraine. Background sTMS was originally developed for the acute treatment of migraine with aura. Open label experience has suggested a preventive benefit.

Differences in active range of motion measurements in the upper extremity of patients with writer's cramp compared with healthy controls.

Study Design: Exploratory case-control study.

Introduction: Writer's cramp (WC) is a type of focal hand dystonia. The central nervous system plays a role in its pathophysiology, but abnormalities in the affected musculoskeletal components may also be relevant.

Long-term depression-like plasticity of the blink reflex for the treatment of blepharospasm.

Our previous work showed a beneficial therapeutic effect on blepharospasm using slow repetitive transcranial magnetic stimulation, which produces a long-term depression (LTD)-like effect. High-frequency supraorbital electrical stimulation, asynchronous with the R2 component of the blink reflex, can also induce LTD-like effects on the blink reflex circuit in healthy subjects. Patients with blepharospasm have reduced inhibition of their blink recovery curves; therefore, a LTD-like intervention might normalize the blink reflex recovery (BRR) and have a favorable therapeutic effect.

Extreme task specificity in writer's cramp.

Background: Focal hand dystonia may be task specific, as is the case with writer's cramp. In early stages, task specificity can be so specific that it may be mistaken for a psychogenic movement disorder.

Methods: We describe 4 patients who showed extreme task specificity in writer's cramp.

The sequence effect in de novo Parkinson's disease.

Background And Purpose: The sequence effect (SE) in Parkinson's disease (PD) denotes progressive slowness in speed or progressive decrease in amplitude of repetitive movements. It is a well-known feature of bradykinesia and is considered unique in PD. Until now, it was well-documented in advanced PD, but not in drug-naïve PD.

Characteristics of the sequence effect in Parkinson's disease.

The sequence effect (SE) in Parkinson's disease (PD) is progressive slowing of sequential movements. It is a feature of bradykinesia, but is separate from a general slowness without deterioration over time. It is commonly seen in PD, but its physiology is unclear.

Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.

Kabuki syndrome is a rare congenital disorder first described in 1981. Case reports indicate multiple congenital abnormalities: skeletal anomalies, cognitive impairment, characteristic facial appearance, and peculiar dermatoglyphic patterns. We describe a patient with Kabuki syndrome who presented with physiologic tremor in her distal upper extremities.