Brian Murphy, PhD

Brian Murphy, PhD

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.

All articles by Brian Murphy, PhD

Pathologist

Treatment of Ruptured GIST Outside of Gastrointestinal Tract: A Case Study

Laparoscopic surgery is a minimally invasive and potentially useful way to remove gastrointestinal stromal tumors (GISTs) arising outside of the gastrointestinal tract, according to a case study published in the International Journal of Surgery Case Reports. “Ruptured extragastrointestinal stromal [tumors] (EGIST) are rare; therefore, there are no standard guidelines for its treatment. Herein, we report…

glucose molecule

Increased Cytoplasmic Glycogen Synthesis Observed in Pompe Disease Patients

Elevated levels of enzymes related to glucose uptake and cytoplasmic glucose metabolism were observed in Pompe disease patient biopsies and in a mouse model of the disease, according to a study published in the Journal of Inherited Metabolic Disease. In the study, levels of glycogenin (GYG1), glucose transporter 4 (GLUT4), glycogen-branching enzyme (GBE1), and UDP-glucose…

CT scan

New Study to Investigate 18F-PSMA Positron Emission Tomography for MTC

A new observational study aims to assess the feasibility of using F-18 labeled prostate-specific membrane antigen (18F-PSMA) as a tracer for positron emission tomography/computer tomography (PET/CT) imaging for the staging of medullary thyroid carcinoma (MTC). The study will also compare 18F-PSMA to the most commonly used tracer in clinical practice, F-18 labeled fluorodeoxyglucose (18F-FDG), to…

infusion bottle

Single Low-Dose Rituximab Infusion May Improve Refractory MG Symptoms

The use of a single low-dose rituximab infusion may help improve symptoms in patients with refractory myasthenia gravis (MG), according to a study published in the Journal of Neurological Sciences. In the small study cohort, 13 out of the 17 patients responded to the rituximab treatment, with 6 even achieving asymptomatic status. The patients who…

Myasthenia gravis etiology

Tacrolimus Improves Symptoms and Modulates Costimulatory Molecules in Refractory MG

Treatment with tacrolimus improves clinical symptoms and modulates plasma levels of soluble costimulatory molecules and their ligands in patients with refractory myasthenia gravis (MG), a recent study suggests. Significant reductions in clinical scores, including the Quantitative MG score (QMG), the MG-specific manual muscle test (MMT), the MG-related activities of the daily living score (MG-ADL), and…

Ultrasound detail

Ultrasonographic Features May Aid in Diagnosing Cervical Lymph Node Metastases From MTC

Cervical lymph node metastases from medullary thyroid cancer (LNM-MTC) seemed to have sonographic features of fewer calcifications, lack of hilum, and larger size in comparison to the lymph node metastases from papillary thyroid cancer (LNM-PTC), a study suggests. The results showed similarities in long-axis diameter, short-axis diameters, gender, shape, cystic change, echogenicity, border, vascularity, and…

microtiter plate

Biomarkers of Liver Stiffness Investigated in Pediatric Cholestatic Liver Diseases

A number of serum biomarkers were investigated for their ability to predict liver stiffness in pediatric cholestatic liver diseases including alpha-1 antitrypsin deficiency (AATD), Alagille syndrome (ALGS), and biliary atresia (BA). According to a study published in Hepatology, connective tissue growth factor (CTGF) was negatively correlated with liver stiffness measurements (R =-.38; P =.01) in…

medical record

Motor and Functional Scales Have Pros and Cons When Evaluating Adults With SMA

The motor and functional scales most commonly used to assess adult patients with spinal muscular atrophy (SMA) have both strengths and limitations when evaluating these patients. When comparing motor functional scales, including the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM), with bedside functional scales, including Egen Klassification (EK2) and…

MRI imaging

Early-Onset Late Gadolinium Enhancement on MRI Predictive of DMD Cardiomyopathy

The presence of late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (MRI) before the age of 14 years in patients with Duchenne muscular dystrophy (DMD) is associated with a faster rate of cardiac decline, according to a study published in Pediatric Cardiology. Patients with an earlier onset of LGE had a more rapid reduction…

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