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Predicting the risk of high-grade precancerous cervical lesions based on high-risk HPV typing in Changsha China.
BMC Womens Health
January 2025
Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha, China.
Background: Persistent infection with high-risk human papillomavirus (HPV) is a significant risk factor for cervical cancer. HPV typing and cytology are conducted in women of appropriate age to assess the risk of cervical lesions and to guide the need for further diagnostic procedures such as colposcopy, cervical biopsy, or treatment. This article explores methods to predict the risks of high-grade precancerous cervical lesions based on high-risk HPV typing.
View Article and Find Full Text PDFSingle-Cell RNA Sequencing Reveals the Cellular Origin and Evolution of Small-Cell Neuroendocrine Carcinoma of the Cervix.
J Med Virol
January 2025
Department of Gynecology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China.
Small-cell neuroendocrine cancer (SCNEC) of the uterine cervix is an exceedingly rare, highly aggressive tumor with an extremely poor prognosis. The cellular heterogeneity, origin, and tumorigenesis trajectories of SCNEC of the cervix remain largely unclear. We performed single-cell RNA sequencing and whole-exome sequencing on tumor tissues and adjacent normal cervical tissues from two patients diagnosed with SCNEC of the cervix.
View Article and Find Full Text PDFGynecological Insights into Lynch Syndrome-A Comprehensive Review of Cancer Screening and Prevention.
Medicina (Kaunas)
December 2024
Medicine School, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Lynch syndrome, one of the most common genetic syndromes predisposing to cancer, is associated with a series of malignant conditions, among which the most frequent is colorectal cancer, but gynecologic cancers (especially endometrial) are also quite common. Despite the significant progress made in understanding this condition over time, there are still aspects in managing this condition that have not demonstrated clear benefits. This article aims to summarize the recommendations of international societies and present the latest developments in managing Lynch syndrome, focusing on gynecologic cancer screening and possible prevention strategies.
View Article and Find Full Text PDFDetection of germline CNVs from gene panel data: benchmarking the state of the art.
Brief Bioinform
November 2024
Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, Avinguda de la Granvia de l'Hospitalet, 199, 08908 L'Hospitalet de Llobregat, Spain.
Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task. Several tools for calling CNVs within this context have been published to date, but the available benchmarks suffer from limitations, including testing on simulated data, testing on small datasets, and testing a small subset of published tools.
View Article and Find Full Text PDFSirenomelia-Challenges and Treatment Approach in a Rare Case.
Birth Defects Res
December 2024
The Department of Surgery and Urology for Children and Adolescents, Medical University of Gdansk, Gdansk, Poland.
Introduction: Sirenomelia is a very rare congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Mostly, the condition is lethal for the baby. Most babies do not survive even after surgery.
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