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

laparoscopic surgery

Laparoscopic Hepatectomy May Be Effective in CCA Care

Laparoscopic hepatectomy (LH) for patients with intrahepatic cholangiocarcinoma (CCA) leads to better surgical outcomes with similar oncological and survival outcomes when compared to open hepatectomy (OH), according to a systematic review and meta-analysis published in the European Journal of Surgical Oncology. The meta-analysis found that patients with intrahepatic CCA who received LH had better surgical…


Coexisting Diabetes Mellitus and LCFAOD May Present Management Difficulties

A 14-year-old male patient was diagnosed with cooccurring type 1 diabetes mellitus (DM1) and very long chain acyl-CoA dehydrogenase deficiency (VLCADD), a type of long chain fatty acid oxidation disorder (LCFAOD), as reported in a case study published in Clinical Biochemistry. The co-occurrence of both disorders requires careful balancing to avoid hyperglycemia and hypoglycemia. Hyperglycemia…

DMD history

Clinical Trial Assessing Novel Antisense Oligonucleotide for DMD Underway

A new clinical trial, AVANCE1, is recruiting adult and pediatric patients with Duchenne muscular dystrophy (DMD) to investigate the safety, pharmacokinetics (PK), and pharmacodynamics of a novel antisense oligonucleotide called SQY51. The trial, sponsored by SQY Therapeutics and Biotrial, is recruiting up to 12 participants to initially receive escalating intravenous infusions of SQY51 every 2…

DLBCL symptoms

Case Report Describes Familial Cases of MTC in a Mother and Her Children

A case report of a mother and her children with familial medullary thyroid carcinoma (MTC) was presented as an ePoster at the 2023 International Meeting of Pediatric Endocrinology (IMPE 2023). A 32-year-old mother was diagnosed with metastatic MTC after progressive weakness of her extremities, weight loss, and dysarthria. She was found to have a TGC-TGG…

ITP diagnosis

Geriatric Prognostic Index Developed for Older Patients With DLBCL

A prognostic index, called the geriatric prognostic index (GPI), was developed for older patients with diffuse large B-cell lymphoma (DLBCL) who are candidates for treatment with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP). The new GPI outperformed the most widely used clinical prediction models, including the international prognostic index (IPI), the revised IPI (R-IPI), and…

Myasthenia Gravis

Quantification of Oculomotor Fatigability May Be Diagnostic Tool for MG

Decrements in oculomotor ranges after repeated saccadic and pursuit movements may be a sensitive and specific tool for the diagnosis of myasthenia gravis (MG), according to a study published in the Journal of Neurology. Quantitative analysis of saccadic and smooth pursuit fatigability using video-oculography (VOG) was able to distinguish between patients with MG and healthy…

pregnant woman

Successful Pregnancy Is Possible With Careful Management in Women With Wilson Disease

Wilson disease (WD) can increase the risk of miscarriage, premature birth, and perinatal mortality, but careful monitoring and management by medical professionals can improve quality of life and the chances of a successful pregnancy, according to a case series published in Medicine. In the case series, 3 of the 4 pregnancies in women with WD…

NMOSD Symptoms

Misdiagnosis Is Common in NMOSD and Associated With Treatment Delay

Patients with neuromyelitis optica spectrum disorder (NMOSD) are commonly misdiagnosed, leading to delays in treatment initiation, according to an international study published in Neurology and Therapy. The study, which analyzed clinical records from the United States, Germany, Italy, Brazil, South Korea, and China, found that roughly 25% of aquaporin-4 (AQP4) immunoglobulin G (IgG)-seropositive adults with…


Nusinersen May Suppress Neuroinflammation in SMA

Treatment with nusinersen (Spinraza®) suppresses some neuroinflammatory factors in patients with severe spinal muscular atrophy (SMA), according to a study published in Communications Medicine. The study found that levels of proinflammatory cytokines and neurotrophic factors were increased in the cerebrospinal fluid (CSF) of patients with SMA type 1 compared to patients with SMA type 2,…

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