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Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.
Eur J Hum Genet
January 2025
CENTOGENE GmbH, Rostock, Germany.
We aimed to assess the impact of splicing variants reported in our laboratory to gain insight into their clinical relevance. A total of 108 consecutive individuals, for whom 113 splicing variants had been reported, were selected for RNA-sequencing (RNA-seq), considering the gene expression in blood. A protocol was developed to perform RNA extraction and sequencing using the same sample (dried blood spots, DBS) provided for the DNA analysis, including library preparation and bioinformatic pipeline analysis.
View Article and Find Full Text PDFExploring the efficacy of fluorouracil and platinum based chemotherapy in advanced hepatocellular carcinoma to bridge the treatment gap in resource limited settings.
Sci Rep
January 2025
Division of Medical Oncology, Department of Internal Medicine, College of Medicine, St. Vincent's Hospital, The Catholic University of Korea, 93 Jungbu-daero, Paldal-gu, Suwon, 16247, Korea.
Advanced hepatocellular carcinoma (HCC) poses treatment challenges, especially where access to multi-kinase inhibitors and ICIs is limited by high costs and lack of insurance. This study evaluates the effectiveness of 5-fluorouracil (5-FU) plus platinum-based chemotherapy as an alternative systemic treatment for advanced HCC. A retrospective analysis of advanced HCC patients treated with 5-FU plus platinum-based chemotherapy was conducted.
View Article and Find Full Text PDFA Qualitative Study of Primary Care Physicians' Approaches to Caring for Adult Adopted Patients.
Ann Fam Med
January 2025
The Warren Alpert Medical School of Brown University, Providence, Rhode Island.
Purpose: Adoption has lifelong health implications for 7.8 million adopted people and their families in the United States. The majority of adoptees have limited family medical history (LFMH).
View Article and Find Full Text PDFFolic acid-targeted β-lactoglobulin nanocarriers for enhanced delivery of 5-fluorouracil and sodium butyrate in colorectal cancer treatment.
Int J Pharm
January 2025
Department of Physics, Kharazmi University, Tehran, Iran; Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Colorectal cancer (CRC) remains a significant public health concern, emphasizing the need for innovative therapeutic strategies to improve patient outcomes. This study aimed to develop a highly efficient nanocarrier for targeted drug delivery, enhancing drug efficacy while minimizing concentrations and limiting adverse effects. We synthesized protein-based β-lactoglobulin (βlg) nanoparticles (NPs), loaded with 5-fluorouracil (5-FU) and sodium butyrate (NaB), and further functionalized with folic acid (FA) for specific targeting of folate receptor-positive CRC cells.
View Article and Find Full Text PDFIntroduction: Around 85% of non-small cell lung cancers (NSCLCs) are diagnosed at an advanced stage (IIIB to IV), where therapeutic options depend on molecular analysis. However, diagnostic material for molecular testing is often represented by cytological samples which are generally scarce and span a wide range of preparation types. Thus, the primary objective is to efficiently manage materials for molecular profiling.
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