AANEM Education News Express

AANEM News Express

Science News: ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion

    6/27/2022
In this cohort study, the authors analyzed the frequency of major genetic variants and clinical features of patient with amyotrophic lateral sclerosis (ALS) with or without C9orf72 repeat expansion. The article explains the correlation between ethnicity and genotype phenotype correlations. 

Science News: CIDP: Five New Things

    6/14/2022
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is one of the most common autoimmune neuropathies. The disease is heterogeneous with atypical case and evolving immunomodulation therapy. There are several recent developments in CIDP. This article brings us five take-home points.

Science News: Electrodiagnostic Characteristics Suggestive of Muscle-Specific Kinase Myasthenia Gravis

    6/14/2022
The authors highlighted potentially distinguishing electrodiagnostic features in the patient with MuSK+MG, consisting of myotonic discharges and myopathic appearing motor unit potentials, which may help to expedite the workup. The presence of these changes may be correlated to alteration of sodium channels.

Science News: CNS Involvement in Chronic Inflammatory Demyelinating Polyneuropathy: Subtle Retinal Changes in Optical Coherence Tomography

    5/31/2022
The authors in this article investigated structural retinal change as a marker of CNS involvement in CIDP compared with healthy individual using a spectral domain optical coherence tomography. This small case control study provides evidence that there is CNS involvement in patients with CIDP.

Science News: Peripheral Neuropathy Evaluations of Patients With Prolonged Long COVID

    5/31/2022
In this retrospective analysis, authors analyzed cross-sectional and longitudinal data from patients with World Health Organization (WHO)-defined long COVID without prior neuropathy history or risks who were referred for evaluation of neuropathy. The study found that small fiber neuropathy after mild COVID-19 was most common beginning within a month of disease onset.
 

Science News: Systemic Inflammatory Markers in Neuropathic Pain, Nerve Injury, and Recovery

    5/16/2022
Findings of this article highlight the potential role of systemic immune dysregulation and the role of cytokines in focal nerve injury and chronic neuropathic pain. The study provides important information relevant to neuropathic pain and possible biomarkers for future studies. Findings of this article highlight the potential role of systemic immune dysregulation and the role of cytokines in focal nerve injury and chronic neuropathic pain. The study provides important information relevant to neuropathic pain and possible biomarkers for future studies. 

Science News: Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy

    5/16/2022
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies, presenting as slowly progressive, often asymmetric muscle weakness. Although a gain-of-toxic function secondary to aberrant DUX4 expression is the known etiology, exact pathomechanism is not known. Inflammatory reactions are sometimes seen in muscle biopsies, leading to speculation of the role of inflammatory pathway activation in disease pathogenesis. This retrospective study analyzed serum cytokines in 100 FSHD1 patients to identify potential biomarkers. 

Science News: Home-Based Exercise in Autoimmune Myasthenia Gravis: A Randomized Controlled Trial

    4/29/2022
Currently, no evidence-based guideline exists on the amount and type of exercise in the patient with generalized MG and effects on the quality of life. In this study, the authors tried to analyze home-based exercise over a home rowing program over 3 months. Although the exercise was well tolerated, the intention to treat analysis revealed no evidence of improved health-related quality of life.

Science News: Effects of Transcranial Direct Current Stimulation Combined with Neuromuscular Electrical Stimulation on Upper Extremity Motor Function in Patients with Stroke

    4/29/2022
This study determines the treatment effects of transcranial direct current stimulation (tDCS) combined with neuromuscular electrical stimulation (NMES) on the motor function of upper extremity (UE) in persons with stroke. The study allows for additive tools physicians can utilize to optimize and improve upon conventional rehabilitation.

Science News: Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-Up

    4/19/2022
This is a small 2-year follow-up study of genetically confirmed facioscapulohumeral dystrophy (FSHD) cases from the Netherlands. On clinical examination, facial weakness was observed as a sign of disease progression. FSHD clinical score 0-15 and muscle ultrasound Z score appeared to be most promising outcome measures of progression. Despite disease progression, children may still notice improvement in functional capacity, including the 6-minute walk test. Pain, fatigue, and decreased quality of life were common symptoms during follow-up. 


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