Brian Murphy, PhD, is a medical/science writer and educator who has written over 300 resource articles about rare diseases. He holds a BS from Georgia Institute of Technology and a PhD from Case Western Reserve University, both in Biomedical Engineering. After graduation, Brian worked as a clinical neural engineer to help restore movement in spinal cord injured patients by reconnecting their brain to their paralyzed muscles using experimental medical devices. In addition to resource pages, Brian has also authored/co-authored several research articles in journals including The Lancet, Journal of Neural Engineering, and PLOS ONE.
A number of different factors appear to play a role in job retention rates for patients with multiple sclerosis (MS), according to a study published in Archives of Physical Medicine and Rehabilitation. The most impactful factors of those studied were related to MS severity and complications with time since diagnosis, fatigue, and more severe symptoms…
The repeated necrosis/regeneration cycles in dystrophic muscles may limit the impact of Duchenne muscular dystrophy (DMD) therapies utilizing adeno-associated virus (AAV), a new study published in Scientific Reports found. During the study, AAV genomes were found to be properly localized in the nucleus of wild-type (WT) mice with muscles regenerated after damage with cardiotoxin (CTX)…
Investigators from the European Competence Network on Mastocytosis and the American Initiative on Mast Cell Diseases have proposed refined response criteria for patients with advanced systemic mastocytosis (AdvSM). The updated response criteria utilizes a tiered approach including pathologic, molecular and cytogenetic, clinical, and symptom/quality of life responses, as published in the Journal of Allergy and…
Shorter leukocyte telomere length in pediatric patients who have undergone liver transplantation for conditions such as Alagille syndrome (ALGS) tends to be associated with higher intima-media thickness and aspartate aminotransferase, according to an article published in Liver Transplantation. These results suggest that early biological aging may contribute to subclinical cardiovascular damage and could affect the…
Researchers show that patients with pre-existing autoimmune hemolytic anemia (AIHA), including cold agglutinin disease (CAD), should be closely monitored after receiving vaccines against the severe acute respiratory syndrome-2 virus (SARS-CoV-2; COVID-19), as published in Hematology, Transfusion and Cell Therapy. The report highlighted the case of a 33-year-old female with previously diagnosed AIHA who had severe…
Some cases of gastrointestinal stromal tumor (GIST) without mutations in the typical KIT or PDGFRA genes (KIT/PDGFRA WT) may contain tropomyosin-related kinase (TRK) fusions, according to a study published in Cancers. A total of 16% of GIST cases (5/31) were found to contain TRK fusions in the neurotrophic tyrosine receptor kinase (NTRK) gene, which encodes…
Patients with perihilar cholangiocarcinoma (CCA) may have improved outcomes after receiving caudate lobe resection during curative surgical management, according to an article published in Annals of Surgical Oncology. In the systematic review and meta-analysis study, caudate lobe resection increased the likelihood of achieving margin-negative (R0) resection and improved overall survival (OS) without increasing perioperative morbidity.…
Machine learning analysis and genome-wide association studies (GWAS) identified biomarkers for the identification of several neurological diseases including myasthenia gravis (MG), as published in Frontiers in Molecular Neuroscience. The researchers identified a number of predictors of disease as well as genetic predispositions for the different neurological diseases including MG, Alzheimer’s disease, Parkinson’s disease, and motor…
Imaging flow cytometry of cells may be useful to help diagnose Wolman disease (WD), a severe form of lysosomal acid lipase deficiency (LAL-D), and to study the efficacy of gene correction strategies, according to an abstract presented at the American Society of Gene & Cell Therapy 25th Annual Meeting. Higher fluorescence intensity and granularity were…
Pain characteristics change in patients with Duchenne muscular dystrophy (DMD) depending on the disease progression and clinical stages, according to an article published in BMC Musculoskeletal Disorders. The pain location, aggravating and relieving factors, frequency, and interference all changed for patients with DMD depending on whether they were still ambulatory, early nonambulatory, or late nonambulatory.…