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http://dx.doi.org/10.5137/1019-5149.JTN.27196-19.2 | DOI Listing |
J Cyst Fibros
September 2025
Department of Medicine, Division of Pulmonary, Allergy, and Critical Care Medicine, Oregon Health and Science University, Portland, OR, USA.
Recent improvements in cell-free DNA technology have enabled non-invasive prenatal testing (NIPT) to screen for fetal single-gene autosomal recessive conditions from maternal blood as early as the first trimester. This technique can determine the fetal risk for cystic fibrosis (CF) with a single blood sample from a pregnant person without the need for a partner sample, which is required for traditional carrier screening. A retrospective review of 100,106 consecutive general-risk pregnant patients who underwent CF carrier screening was completed.
View Article and Find Full Text PDFTransl Oncol
September 2025
Division of Genome Biology, National Cancer Center Research Institute, Tokyo, Japan; Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan. Electronic address:
Liquid biopsies, particularly those involving circulating tumor DNA (ctDNA) from patient blood, have emerged as crucial and minimally invasive adjuncts to standard tissue-based testing. ctDNA testing enables the identification of actionable mutations for targeted therapy and can be routinely used when tissue samples are unavailable for genotyping. Compared to tissue-based testing, ctDNA testing has the advantages of capturing spatial or temporal genomic heterogeneity and facilitating repeated assessments.
View Article and Find Full Text PDFESMO Open
September 2025
Department of Medical Oncology, Kanazawa University Hospital, Kanazawa, Japan. Electronic address:
Background: Resistance to alectinib, the standard first-line therapy for anaplastic lymphoma kinase (ALK)-rearranged non-small-cell lung cancer (NSCLC), remains a major clinical challenge. This study aimed to investigate resistance mechanisms using next-generation sequencing (NGS) of plasma cell-free DNA (cfDNA).
Materials And Methods: Plasma samples from 67 patients in the alectinib group of the J-ALEX study were collected at baseline, on day 57, and at treatment discontinuation.
Nat Med
September 2025
Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, the Netherlands.
CDK4/6 inhibitors (CDK4/6i) improve outcome in patients with advanced estrogen receptor-positive, HER2 breast cancer. The phase 3 SONIA trial compared the addition of CDK4/6i to first- versus second-line endocrine therapy for time to disease progression after second-line treatment (progression-free survival after two lines of treatment (PFS2)), as well as for secondary outcomes overall survival, PFS after one line of treatment (PFS1), health-related quality of life (HRQOL), toxicity and cost-effectiveness. No significant difference in PFS2 was observed; however, on an individual patient level this may be different.
View Article and Find Full Text PDFDiabetes
September 2025
Center of Regenerative Medicine, Department of Stomatology, Renmin Hospital of Wuhan University, Wuhan, China.
Unlabelled: Diabetic wounds represent a significant clinical and economic burden, affecting both patients and health care systems. While current therapeutic approaches, such as negative pressure wound therapy, offer benefits, their limitations necessitate alternative strategies. Newly discovered dental pulp stem cell-derived intracellular vesicles have emerged as a promising candidate in regenerative medicine due to their therapeutic potential.
View Article and Find Full Text PDF