Publications by authors named "Justin J Buthorn"
Article Synopsis
- A program was launched to provide free genomic testing for patients with rare cancers worldwide, specifically targeting histiocytosis, germ cell tumors (GCT), and pediatric cancers.
- Patients were recruited through social media and advocacy groups, and 333 were enrolled, with 288 providing tumor tissue for analysis, resulting in significant clinical benefits for patients receiving genomically guided therapy.
- The study highlighted the rarity of actionable genomic alterations in ovarian GCTs and demonstrated that direct outreach can effectively build cohorts for studying rare cancers' genomic landscapes.
Background And Objectives: Novel diagnostic techniques and neurologic biomarkers have greatly expanded clinical indications for CSF studies. CSF is most commonly obtained via lumbar puncture (LP). Although it is generally believed that LPs are well tolerated, there is a lack of supportive data for this claim, and patients anticipate LP to be painful.
View Article and Find Full Text PDFChallenges and positive impact of rare cancer caregiving: A mixed-methods study of caregivers of patients with Erdheim-Chester disease and other histiocytic neoplasms.
EClinicalMedicine
December 2022
Article Synopsis
- Caregivers of patients with rare cancers like Erdheim-Chester disease have a lot of unmet needs, especially for information and emotional support.* -
- Most caregivers feel stressed and anxious, which makes it harder for them to find joy and meaning in their caregiving role.* -
- The study shows that helping caregivers with their needs could make their experience better and help them see the positive sides of caring for someone with a rare cancer.*
Erdheim-Chester disease (ECD) is an ultra-rare hematologic neoplasm characterized by somatic mutations of the MAPK pathway and by accumulation of lesional histiocytes within tissues. Clinical phenotypes and sites of disease involvement are heterogenous in ECD, and no tool exists for systematic and comprehensive assessment of ECD symptomatology. We describe a collaborative effort among ECD specialists, patient-reported outcome (PRO) methodologists, and ECD patients to develop the Erdheim-Chester Disease Symptom Scale (ECD-SS): a symptom inventory for clinical ECD care and evaluation of ECD therapies.
View Article and Find Full Text PDFBackground: Proton magnetic resonance spectroscopy ((1)H-MRS) studies on healthy aging have reported inconsistent findings and have not systematically taken into account the possible modulatory effect of APOE genotype. We aimed to quantify brain metabolite changes in healthy subjects in relation to age and the presence of the APOE E4 genetic risk factor for Alzheimer's disease. Additionally, we examined these measures in relation to cognition.
View Article and Find Full Text PDFObjective: The authors sought to directly examine compromises in the semantic system in mild cognitive impairment and their possible relationship to everyday functional competencies.
Method: Study participants were 25 patients who met criteria for amnestic mild cognitive impairment, 27 patients with mild or moderate Alzheimer's disease, and 70 healthy comparison subjects. The authors administered a novel semantic distance task in which participants make decisions about word or image stimuli that correspond to real-world entities that differ in physical size.