Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.

Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein, 74 samples from 37 families were included, and their results of OGM were compared to conventional methods, namely karyotyping (KT) and chromosomal microarray analysis (CMA), which identified 27 variants across 16 positive families.

Triple combination of HAIC-FO plus tyrosine kinase inhibitors and immune checkpoint inhibitors for advanced hepatocellular carcinoma: A systematic review and meta-analysis.

Background: The triple combination of hepatic arterial infusion chemotherapy (HAIC) with fluorouracil, leucovorin, and oxaliplatin (FOLFOX) plus tyrosine kinase inhibitor (TKI) and immune checkpoint inhibitors (ICIs) is expected to have a synergistic anticancer effect in HCC. We conducted this meta-analysis to evaluate the efficacy and safety of the triple combination treatment in advanced HCC patients.

Methods: PubMed, Embase, Cochrane Library, Web of Science databases were systematically searched for relevant studies from the inception of each database to May 10, 2023.

cfDNA deconvolution via NIPT of a pregnant woman after bone marrow transplant and donor egg IVF.

Cell-free DNA is known to be a mixture of DNA fragments originating from various tissue types and organs of the human body and can be utilized for several clinical applications and potentially more to be created. Non-invasive prenatal testing (NIPT), by high throughput sequencing of cell-free DNA (cfDNA), has been successfully applied in the clinical screening of fetal chromosomal aneuploidies, with more extended coverage under active research.In this study, via a quite unique and rare NIPT sample, who has undergone both bone marrow transplant and donor egg IVF, we investigated the sources of oddness observed in the NIPT result using a combination of molecular genetics and genomic methods and eventually had the case fully resolved.

Secondary sclerosing cholangitis from percutaneous transhepatic biliary drainage in a patient with gallbladder cancer after surgery: A case report.

Secondary sclerosing cholangitis (SSC) is a chronic cholestatic liver disease characterized by fibrosis and stricture of the bile ducts. SSC in association with multiple factors such as spontaneous choledochoduodenal fistula and metastatic gallbladder cancer has rarely been reported. However, to the best of our knowledge, reports of SSC after percutaneous transhepatic biliary drainage (PTBD), especially in cases with diffuse calcification of the bile duct walls, have not been reported.

Percutaneous vertebroplasty guided by preoperative computed tomography measurements.

Background: Percutaneous vertebroplasty (PVP) is now widely performed to treat painful vertebral compression fractures. Previous researches have reported numerous advantages. However, it rarely reported that how to determine the feasibility of the unilateral or bilateral approach and how to decide the puncture angle, the skin insertion site before the procedure.

Regulation of demethylation and re-expression of RASSF1A gene in hepatocellular carcinoma cell lines treated with NCTD in vitro.

Background: Hepatocellular carcinoma, a lethal malignant neoplasm with poor prognosis, has dismal results of surgical resection and chemoradiotherapy. Norcantharidin (NCTD), the demethylated analog of cantharidin derived from a traditional Chinese medicine, Mylabris, has been used in the treatment of cancer. However, the detailed mechanisms underlying this process are generally unclear.