Purpose: National Comprehensive Cancer Network guidelines for germline genetic testing have included pancreatic cancer in the context of additional family cancer history for many years but this was not recommended for patients with pancreatic ductal adenocarcinoma (PDAC) independent of a family history until 2019. This hypothesis-generating study reports the results from multigene panel testing for PDAC patients at an academic medical center.
Patients And Methods: This prospective longitudinal feasibility study examined responses to genetic counseling and multigene panel testing among PDAC and breast or ovarian cancer (BrOv) patients between October 2016 and November 2017. Pre- and post-test surveys assessed perceptions of genetic risk and testing, recall, comprehension, and emotional reactions to results using open-ended and closed-ended items.
Results: Forty-six BrOv and 33 PDAC patients were enrolled, and 44 BrOv and 31 PDAC participants underwent genetic testing. Seven pathogenic variants were identified in six BrOv participants (13.6%), and three pathogenic variants were identified in three PDAC participants (9.7%). The majority of both cohorts expressed similar attitudes about the importance of genetic testing for their personal and family medical management and expressed accurate understanding of implications of their results. Although sample size was small, there were no significant differences between the BrOv and PDAC cohorts for positive or negative emotions.
Conclusion: This study points to high rates of positive emotions and low rates of negative emotions following genetic test results, suggesting that the emotional reactions to genetic test results are similar for patients with BrOv and PDAC, despite poor prognosis with PDAC diagnoses. Because of the unique needs of the PDAC population following diagnosis, a multidisciplinary approach to germline genetic testing following diagnosis may result in best patient and family member outcomes.
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http://dx.doi.org/10.1200/PO.20.00199 | DOI Listing |
Methods Mol Biol
December 2024
Department of Microbiology and Plant Pathology, University of California, Riverside, CA, USA.
Transcriptional regulation allows cells to execute developmental programs, maintain homeostasis, and respond to intra- and extracellular signals. Central to these processes are promoters, which in eukaryotes are sequences upstream of genes that bind transcription factors (TFs) and which recruit RNA polymerase to initiate mRNA synthesis. Valuable tools for studying promoters include reporter genes, which can be used to indicate when and where genes are activated.
View Article and Find Full Text PDFNeurol Int
December 2024
Jaseng Spine and Joint Research Institute, Jaseng Medical Foundation, Seoul 135-896, Republic of Korea.
Animal models are valuable tools for studying the underlying mechanisms of and potential treatments for intervertebral disc diseases. In this review, we discuss the advantages and limitations of animal models of disc diseases, focusing on lumbar spinal stenosis, disc herniation, and degeneration, as well as future research directions. The advantages of animal models are that they enable controlled experiments, long-term monitoring to study the natural history of the disease, and the testing of potential treatments.
View Article and Find Full Text PDFNeurol Int
December 2024
Department of Neurology, University of Texas Medical Branch, Galveston, TX 77555, USA.
Background: Hereditary Sensory Motor Neuropathy (HSMN) 1A and Multiple Sclerosis (MS) are distinct demyelinating disorders affecting the peripheral and central nervous systems, respectively. We present a case of simultaneous occurrence of both conditions, exploring the clinical presentation, diagnostic workup, and potential interplay between these diseases. Case presentation and clinical approach: A 49-year-old male with a history of optic neuritis presented with progressive numbness, weakness, and sensory loss in all extremities over four years.
View Article and Find Full Text PDFIndian J Ophthalmol
December 2024
Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.
Design: Retrospective observational study.
Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021.
J Fungi (Basel)
December 2024
Chair of Microbiology, Faculty of Medicine, Jagiellonian University Medical College, Czysta 18 Street, 31-121 Krakow, Poland.
Background: Invasive candidiasis is a predominant mycosis in hospitalized patients, and is the species most often responsible for this infection. Most candidiasis cases originate from endogenous mycobiota; therefore, strains can easily be transferred among hospital patients and personnel. The aim of this study was to assess the possible horizontal transmission of in patients with severe COVID-19 infection requiring hospitalization in the intensive care unit.
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