Brian Murphy

Boston

Research Director and Analyst at Chilmark Research

Healthcare IT Analyst on HIE, Interoperability

Articles

Mutation leads to hereditary hemochromatosis-induced PCT in man

Jun 12, 2024 | porphyrianews.com | Andrea Lobo |Claire Richmond |Brian Murphy |Marisa Wexler

A rare mutation in the HFE gene, called H63D, was found to be the cause of hereditary hemochromatosis, a condition marked by iron overload, that ultimately led to porphyria cutanea tarda (PCT) in a 21-year-old man in the U.S., a case report shows. This case demonstrates the occurrence of “PCT in the setting of previously undiagnosed HH [hereditary hemochromatosis] caused by [two copies of the] H63D mutation in the HFE gene, which has rarely been reported,” researchers wrote.
Risk factors, effective treatments for PCT identified in study

Jun 5, 2024 | porphyrianews.com | Patricia Inacio |Claire Richmond |Brian Murphy |Lindsey Shapiro

Heavy alcohol consumption and hereditary hemochromatosis, a genetic disorder characterized by iron overload, are the leading risk factors for porphyria cutanea tarda (PCT), the most common form of porphyria, according to a retrospective 35-year follow-up study conducted in Scotland. Disease remission was more commonly achieved by patients who had been treated with a combination of therapeutic phlebotomy, or bloodletting, and antimalarial medications.
Painful skin condition eases after man's HIV was treated

May 22, 2024 | porphyrianews.com | Marisa Wexler |Forest Ray |Brian Murphy |Margarida Maia

The human immunodeficiency virus (HIV) was the trigger for porphyria cutanea tarda, a condition characterized by painful, blistering skin lesions from sun exposure, for a 33-year-old man in Spain, according to a recent case report. Once his HIV was under control, his porphyria also eased. His case was described in a brief report, titled “Porphyria cutanea tarda in a human immunodeficiency virus-positive patient,” which was published in the journal Medicina Clinica.
Study of Tisagenlecleucel in DLBCL Shows Similar Responses to Clinical Trial

Oct 17, 2023 | rarediseaseadvisor.com | Brian Murphy

Tisagenlecleucel (Kymriah®) treatment results in a response in roughly half of patients with relapsed or refractory diffuse large B-cell lymphoma (DLBCL), according to a single-center, retrospective analysis.sThe best overall response rate (ORR) observed during the analysis was 52%, which included a complete response (CR) in 32% of patients and a partial response (PR) in 20%. The remaining 48% of patients experienced disease progression.
Patients With Atrial Fibrillation and SSc Have Higher Rates of Mortality and Morbidity - Rare Disease Advisor

Oct 12, 2023 | rarediseaseadvisor.com | Brian Murphy

HONOLULU, Hawaii—Patients with atrial fibrillation (AF) in conjunction with systemic sclerosis (SSc) have higher rates of mortality and some cardiovascular morbidities than patients with AF without SSc, according to a poster presentation at the American College of Chest Physicians Annual Meeting (CHEST 2023).
SSc With PH Associated With Conduction Disorders and Tachyarrhythmias - Rare Disease Advisor

Oct 12, 2023 | rarediseaseadvisor.com | Brian Murphy

HONOLULU, Hawaii—Patients with pulmonary hypertension (PH) induced by systemic sclerosis (SSc) tend to have a higher prevalence of conduction disorders and tachyarrhythmias, according to a seminar presentation at the American College of Chest Physicians Annual Meeting (CHEST 2023). Univariate analysis found that there was a significantly higher incidence of a number of comorbidities and complications in patients with SSc and PH than those without PH (P <.05).
Machine-Learning Used to Predict Future Clinical Worsening Events in PAH

Oct 11, 2023 | rarediseaseadvisor.com | Brian Murphy

HONOLULU, Hawaii—A machine-learning model was used to identify possible predictors of future clinical worsening events in patients with pulmonary arterial hypertension (PAH) according to a poster presented at the American College of Chest Physicians Annual Meeting (CHEST 2023). When investigating features collected during the 1-month “progressing” period immediately prior to clinical worsening, the model identified several features that were most strongly associated with the worsening.
Paramagnetic Rim Lesions More Harmful Than Other Types of Lesions in MS

Oct 9, 2023 | rarediseaseadvisor.com | Brian Murphy

Paramagnetic rim lesions (PRLs) appear to be more destructive than other types of lesions, including lesions with diffuse susceptibility-weighted imaging (SWI)-hypointense signal (DSHLs) and SWI-isointense lesions (SILs), in patients with multiple sclerosis (MS), according to a study published in the Multiple Sclerosis Journal. The study also found that changes in the periplaque of PRLs could be biomarkers for the silent progression of MS.
Researchers Created Induced Pluripotent Stem Cell Lines for ATTR-CM

Oct 4, 2023 | rarediseaseadvisor.com | Brian Murphy

Researchers at the Stanford Cardiovascular Institute have successfully created 2 induced pluripotent stem cell (iPSC) lines from patients with heterozygous transthyretin-mediated amyloid cardiomyopathy (ATTR-CM), according to a lab resource published in Stem Cell Research. The 2 cell lines, designated as SCVIi066-A and SCVIi067-A, were created from 2 male Caucasian patients who were 65 and 63 years of age, respectively.
Ketogenic Diet Reduces Seizures in Some Pediatric Epilepsy Patients With DS

Sep 27, 2023 | rarediseaseadvisor.com | Brian Murphy

The ketogenic diet (KD) may help to reduce seizures in some pediatric patients with drug-resistant epilepsy including those with Dravet syndrome (DS), according to a study published in Epileptic Disorders. After 3 months of the KD, 9.7% of patients were seizure-free and 46.5% of patients had a 50% to 99% reduction in seizure activity. The seizure-free rates increased to 16.7% and 14.2% at 6 and 12 months of the KD, respectively, before decreasing to 9.0% at 24 months.