Mohammad Alsharabati

Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population

Abstract Our objective was to identify the main clinical and epidemiological features of ALS in a large cohort of African American (AA) patients and compare them to Caucasian (CA) patients in a clinic-based population. We retrospectively identified 207 patients who were diagnosed with ALS based on the revised El Escorial criteria (60 AA and 147 CA subjects). Patients were seen in the Neuromuscular Division at the University Medical Center. We compared epidemiological and clinical features of these two groups, focusing on age of onset and diagnosis, clinical presentation and survival. Results showed that AA patients had a significantly younger age of disease onset (55 years vs. 61 years for CA, p = 0.011) and were diagnosed at an earlier age (56 years vs. 62 years, p = 0.012). In younger ALS patients (< 45 years of age), there was a significant difference in gender frequency, with females predominating in the AA population and males in the CA population (p = 0.025). In a multivariable Cox proportional hazard model, survival rates were not different between the groups. In both groups, survival significantly increased with younger age. In conclusion, AA patients presented at an earlier age, but there was no difference in survival compared to CA patients. A gender reversal occurred in younger ALS patients, with AA patients more likely to be female and CA patients more likely to be male.

Amifampridine phosphate (Firdapse®) is effective and safe in a phase 3 clinical trial in LEMS

We evaluated the efficacy and safety of amifampridine phosphate (Firdapse®) for symptomatic treatment in Lambert‐Eaton myasthenic syndrome (LEMS).

Transforming Growth Factor Beta (TGF-β) Is a Muscle Biomarker of Disease Progression in ALS and Correlates with Smad Expression.

We recently identified Smads1, 5 and 8 as muscle biomarkers in human ALS. In the ALS mouse, these markers are elevated and track disease progression. Smads are signal transducers and become activated upon receptor engagement of ligands from the TGF-β superfamily. Here, we sought to characterize ligands linked to activation of Smads in ALS muscle and their role as biomarkers of disease progression. RNA sequencing data of ALS muscle samples were mined for TGF-β superfamily ligands. Candidate targets were validated by qRT-PCR in a large cohort of human ALS muscle biopsy samples and in the G93A SOD1 mouse. Protein expression was evaluated by Western blot, ELISA and immunohistochemistry. C2C12 muscle cells were used to assess Smad activation and induction. TGF-β1, 2 and 3 mRNAs were increased in ALS muscle samples compared to controls and correlated with muscle strength and Smads1, 2, 5 and 8. In the G93A SOD1 mouse, the temporal pattern of TGF-β expression paralleled the Smads and increased with disease progression. TGF-β1 immunoreactivity was detected in mononuclear cells surrounding muscle fibers in ALS samples. In muscle cells, TGF-β ligands were capable of activating Smads. In conclusion, TGF-β1, 2 and 3 are novel biomarkers of ALS in skeletal muscle. Their correlation with weakness in human ALS and their progressive increase with advancing disease in the ALS mouse suggest that they, as with the Smads, can track disease progression. These ligands are capable of upregulating and activating Smads and thus may contribute to the Smad signaling pathway in ALS muscle.

Smads as muscle biomarkers in amyotrophic lateral sclerosis.

To identify molecular signatures in muscle from patients with amyotrophic lateral sclerosis (ALS) that could provide insight into the disease process and serve as biomarkers.

Ocular LEMS or MLOS.

Keywords: Lambert-Eaton myasthenic syndrome; LEMS; MG; MG and LEMS overlap syndrome; myasthenia gravis

Electromyography tests in patients with implanted cardiac devices are safe regardless of magnet placement.

We compared the problems or complications associated with electrodiagnostic testing in 77 patients with implanted cardiac devices. Thirty tests were performed after magnet placement, and 47 were performed without magnet application.

Acute Myofascitis as a Manifestation of Chronic Graft Versus Host Disease

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Asymptomatic vasculitic neuropathy.

Introduction: We performed a retrospective analysis of the clinical, pathological, and electrophysiological features of 21 cases of Asymptomatic vasculitic neuropathy (AsVN). Methods: Among 270 patients with biopsy‐proven vasculitic neuropathy, we identified 21 (7.8%) who had asymptomatic neuropathy. Results: Of the 21 patients with AsVN, 11 were women and 10 were men. Their mean age was 62.5 years. Referring physicians suspected systemic vasculitis on the basis of clinical and laboratory features, but none of the patients had neuropathy by examination. Screening nerve conduction studies identified neuropathy in all patients, leading us to perform a sural nerve biopsy, which confirmed the diagnosis of vasculitis. Twelve patients had active (type I), 6 had inactive (type II), and 3 had probable (type III) vasculitis. Vasculitis was primary in 10 patients and secondary in 11. Conclusions: Nerve conduction study is an important tool for identifying AsVN, a subtype of vasculitic neuropathy. Muscle Nerve 52: 34–38, 2015

Myotonic dystrophy type 1 presenting with asymmetric winged scapulae.

decreased diaphragm movement without significant changes in thickness or echogenicity. Ultrasound assessment of nerves and muscles in those with conditions affecting the peripheral nervous system has expanded our knowledge of neuromuscular disorders. As use of this technology becomes more widespread, it is anticipated that more unsuspected anatomic alterations will be discovered and further improve our understanding of neuromuscular disease. Both authors contributed equally to the manuscript. Author Contributions: M.S. Cartwright: case report project conception, case report project organization, case report project execution, manuscript review and critique; V.S. Keskinyan: case report project organization, case report project execution, manuscript review and critique, writing of the first draft. Disclosure: Dr. Cartwright reports no disclosures; Mr. Keskinyan reports no disclosures.