Altered zygotic gene expression caused by sperm with variants disrupts early embryonic development.

The precise mechanisms behind early embryonic arrest due to sperm-related factors and the most effective strategies are not yet fully understood. Here, we present two cases of male infertility linked to novel variants, associated with oligoasthenoteratozoospermia (OAT) and early embryonic arrest. To investigate the underlying mechanisms and promising therapeutic approaches, knock-in and knock-out mice were generated.

Reduced portal vein blood flow velocity in acute fatty liver of pregnancy.

Purpose: Acute fatty liver of pregnancy (AFLP) is a severe complication that can occur in the third trimester or immediately postpartum, characterized by rapid hepatic failure. This study aims to explore the changes in portal vein blood flow velocity and liver function during pregnancy, which may assist in the early diagnosis and management of AFLP.

Methods: This longitudinal study was conducted at a tertiary healthcare center with participants recruited from routine antenatal check-ups.

Clinical review and drug sensitivity test of complex isolates in non-lactating patients with severe mastitis.

Background: Previous microbiological investigations have demonstrated a significant correlation between complex (CKC) infection and mastitis. Recent studies have confirmed the existence of the CKC, with () identified as the primary infectious agent. Examining the incidence of CKC in cases of severe non-lactational mastitis, alongside the clinical characteristics of infected patients, as well as evaluating the drug sensitivity testing protocols for CKC, can provide a more robust foundation for the diagnosis and treatment of CKC infections.

Prognostic significance of preoperative prognostic nutritional index in hepatocellular carcinoma after curative hepatectomy: a meta-analysis and systemic review.

Background: The Prognostic Nutritional Index (PNI), which reflects both nutritional and immune status, has emerged as a potential predictor of survival outcomes in cancer patients. However, its role in forecasting the prognosis of hepatocellular carcinoma (HCC) following curative hepatectomy remains unclear. To further investigate the association between PNI and survival outcomes in HCC patients, we conducted a systematic review and meta-analysis.

Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina.

Most genetic risk variants linked to ocular diseases are non-protein coding and presumably contribute to disease through dysregulation of gene expression, however, deeper understanding of their mechanisms of action has been impeded by an incomplete annotation of the transcriptional regulatory elements across different retinal cell types. To address this knowledge gap, we carried out single-cell multiomics assays to investigate gene expression, chromatin accessibility, DNA methylome and 3D chromatin architecture in human retina, macula, and retinal pigment epithelium (RPE)/choroid. We identified 420,824 unique candidate regulatory elements and characterized their chromatin states in 23 sub-classes of retinal cells.