Medicine and Health Sciences Commons^™

Utility And Yield Of Genetic Testing Leading To A Definitive Neuromuscular Or Neuropathic Diagnosis At A Rural Outpatient Neurology Clinic Affiliated With A University Health Center In West Virginia Over 4 Years., Holly Farkosh, Dominika Lozowska

Marshall Journal of Medicine

Introduction

Clinicians are increasingly relying on genetic testing to pinpoint definite diagnoses. A more general diagnosis of neuropathy or neuromuscular disease like myopathy can be narrowed down substantially using genetic testing. Because carrier status is of utmost importance in reproductive matters, pathogenic results can prognosticate the future course of the illness and help plan ahead for treatment and social supports. Given the expense of genetic testing, it is important to assess the cost-benefit ratio to determine whether it is worthwhile to collect genetic samples. The purpose of the study was to determine the likelihood of obtaining a conclusive confirmatory diagnosis …

Alpha-Gal Allergy: A New Threat To Appalachia, Adam M. Franks Md, Makala Murphy Bs, Madison Griffis Md, Rebekah Franks Ba, Cwr, Colin M. Franks, Gary Petty Md

Marshall Journal of Medicine

Abstract

Alpha-gal allergy, or mammalian meat allergy, is described as the development of IgE antibodies to the oligosaccharide galactose-a-1,3-galactose following a bite from the tick species Amblyomma americanum (Lone Star tick) or Dermacentor variabillis (Wood tick). Dermatologic or gastrointestinal symptoms are usually delayed by four to six hours after exposure, making the diagnosis difficult. Due to the use of mammalian proteins in many common medications, surgical equipment and prosthesis, unexpected reactions can occur. In the United States, this pathology is predominately seen in the southeast, but has been associated with other tick species on every continent except Antarctica. As the …

Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Diagnosis Obscured By Concomitant Recreational Drug Use, Paige Lester Ms Ii, Adam M. Franks Md, William Rollyson Ms Iv, Jenna K. Barbour Md, Matthew B. Curry Md

Marshall Journal of Medicine

Anti-NMDA receptor encephalitis (aNMDAre) is a relatively newly discovered autoimmune and inflammatory disorder affecting the limbic system. It has a clinical course that includes Prodromal, Psychiatric, Unresponsive and Hyperkinetic stages. These stages are often confused with mental health issues in the medical literature, but they also share symptoms of various drug intoxication and withdrawal states. Implicit bias in physicians regarding substance use disorder and patient demographics can impair delivery of care and outcomes in patients with aNMDAre, especially in an environment of recreational drug use. When clinical presentation aligns, this diagnosis should be investigated as soon as possible, even in …

Non-Selective Primary Human Tumor Cell Line Generation From Surgical Resections To Be Paired With Flash Frozen And Paraffin Embedded Tissue: Advancements In Democratizing Translational Research Materials To Rural Institutions, Jennifer Hawkins, Rebecca Russell, Logan M. Lawrence, Amrita Valluri, Jessica Wellman, Krista Denning

Marshall Journal of Medicine

Translational cancer research relies on the availability of human patient tissue demonstrating the specific disease process under investigation. Biobanks of human tissue have historically been and remain to date the primary access point for cancer research samples. Biorepositories routinely supply researchers with varying sample types for use in biomedical studies; most commonly formalin-fixed and paraffin-embedded (FFPE) tissue, or fresh snap-frozen tissue. In conjunction with preserved tissue samples, viable tumor cell lines derived from patient tissue have emerged to be a new gold standard in cancer research particularly in drug discovery and functional prognostic assays. Tissue banks providing these samples are …

Leveraging A Public-Private-Academic Collaborative Partnership To Confront Challenges In The Covid-19 Pandemic., James Denvir

Marshall Journal of Medicine

Like all viruses, the SARS-CoV-2 virus mutates over time, creating new viral variants that have the potential to transmit more rapidly, cause more severe disease, or avoid treatment and prevention strategies. A critical component of the public health response to COVID-19 is identifying and tracking emergence of SARS-CoV-2 variants. In West Virginia, this effort is coordinated via a public-private-academic collaboration.