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Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFA rare intersection: squamous cell carcinoma of the tonsil and the anti-TIF1 syndrome masquerade.
BMC Rheumatol
January 2025
Department of Rheumatology, Overton Brooks VA Medical Center, Shreveport, LA, USA.
Background: Dermatomyositis is a chronic inflammatory condition affecting muscles and skin, often associated with an increased risk of cancer. Specific autoantibodies, including anti-TIF1 (Transcription Intermediary Factor 1), have been linked to this risk. We present a case of dermatomyositis in a male patient positive for anti-TIF1 antibodies, subsequently diagnosed with squamous cell carcinoma of the tonsil, a novel association not previously documented.
View Article and Find Full Text PDFEarly effects of LT3 + LT4 combination therapy on quality of life in hypothyroid patients: a randomized, double-blind, parallel-group comparison trial.
BMC Endocr Disord
January 2025
Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
Background: This study aimed to evaluate the impact of combined levothyroxine (LT4) and triiodothyronine (LT3) therapy on quality of life in patients with primary hypothyroidism.
Methods: In a randomized, double-blind, parallel-group trial, 151 Iranian patients diagnosed with primary hypothyroidism between 2020 and 2021 were enrolled. One group received LT4 alone (n = 80), while the other received LT4 and LT3 (n = 71) for a minimum of six months.
Oral manifestations of dengue virus infection: a scoping review for clinical dental practice.
BMC Oral Health
January 2025
School of Dentistry, Catholic University of Pelotas (UCPel), Campus da Saúde, Av. Fernando Osório, 1586-Pelotas, Pelotas, RS, Brazil.
Background: Dengue virus (DENV) infection, a mosquito-borne disease, presents a significant public health challenge globally, with diverse clinical manifestations. Although oral dengue manifestations are uncommon, they can serve as crucial diagnostic indicators and impact patient management in dental practice. This scoping review aims to map the evidence on the oral manifestations associated with DENV infection and their clinical implications for dental practice.
View Article and Find Full Text PDFQuality End-of-Life Cancer Care: An Unfulfilled but Achievable Imperative.
Curr Oncol Rep
January 2025
Medical College of Georgia of the University System of Georgia, 2 Oceans West Blvd, Daytona Beach Shores, FL, 32118, USA.
Background: Disease-focus management of late-stage cancer without addressing patients' preferences or quality of life (QoL) can lead to unsatisfactory patient and disease outcomes.
Methods: A PRISMA-adherent systematic review of the literature was conducted via PubMed, Embase, Scopus, and Google Scholar to assess the current late-stage cancer treatment modality, setting, timing, and cost, their impact on patient and disease outcomes, and possible interventions for improvement.
Results: Out of many studies, twelve from North America, Western Europe, and Asia met our inclusion criteria.
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