Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi +13 more
wiley +1 more source
Undifferentiated pleomorphic sarcoma as a rare extracolonic manifestation in Lynch syndrome with MLH1 germline mutation: a case report. [PDF]
Chen Y +7 more
europepmc +1 more source
Noncanonical Nucleotides in the Genome Around the Maternal‐Zygotic Transition
In this paper, Kazzazi et al. provide a comprehensive review of the dynamics of nonconventional nucleotides in the genome during early developmental stages, hypothesizing a potential role for these nucleotides in the activation of the zygotic genome. ABSTRACT From the very moment of fertilization and throughout development, the cells of animal embryos ...
Latifa Kazzazy +7 more
wiley +1 more source
Risk of Radiation-Associated Contralateral Breast Cancer in Germline Mutation Carriers: A Meta-Analysis and Systematic Review. [PDF]
Prihharsanti CHN +10 more
europepmc +1 more source
ABSTRACT Colorectal cancer is the third most common cancer worldwide, and the proportion of individuals diagnosed under the age of 50 years, referred to as early‐onset colorectal cancer (EOCRC), is increasing. The aim of this study was to evaluate how the demographic and clinical features of EOCR in northern Sweden and Finland have changed over time ...
Melina Charalambidi +11 more
wiley +1 more source
Trio-sequencing Reveals High Germline Mutation Rates in the Colorado Potato Beetle (Leptinotarsa decemlineata). [PDF]
Xu S, Al-Madhagy S, Duchen P, Edison A.
europepmc +1 more source
ABSTRACT Background and Objectives Succinate dehydrogenase‐deficient (SDH‐deficient) gastrointestinal stromal tumors (GIST) are characterized by variable disease biology with poor responses to traditional tyrosine kinase inhibitors. The role of surgical intervention has been highly debated.
Katherine Y. Chen +6 more
wiley +1 more source
First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review. [PDF]
Zhang L +7 more
europepmc +1 more source
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri +7 more
wiley +1 more source
Autosomal Dominant Erythrocytosis Caused by Non-Renal Erythropoietin (EPO) Due to EPO c.-136 G>A Germline Mutation. [PDF]
Lanikova L +10 more
europepmc +1 more source

