Accurate diagnosis of bronchopulmonary infection in an anti-IFN-γ autoantibodies positive patient assisted by endobronchial ultrasound-guided TBNA and mNGS: a case report.

Rationale: is opportunistic and dimorphic fungus, which can cause systemic mycosis in human beings. It's being difficult to obtain histopathological or microbiological evidence in infection. We reported a rare non-HIV case of infection of bronchopulmonary and mediastinal lymph nodes which was diagnosed by EBUS-TBNA combined with mNGS.

Serological, fragmentomic, and epigenetic characteristics of cell-free DNA in patients with lupus nephritis.

Objectives: The biological characteristics of plasma circulating cell-free DNA (cfDNA) are related to the pathogenesis of lupus nephritis (LN). The aim of this study was to explore the biological characteristics of cfDNA in patients with LN in terms of serology, fragment omics, and epigenetics, and to discuss the possibility of liquid biopsy for cfDNA as an alternative to conventional tissue biopsy.

Methods: cfDNA was extracted from plasma samples of 127 patients with systemic lupus erythematosus (64 with LN, 63 without LN).

Single-cell mechanistic studies of radiation-mediated bystander effects.

Ionizing radiation (IR) has been widely used in the diagnosis and treatment of clinical diseases, with radiation therapy (RT) being particularly rapid, but it can induce "bystander effects" that lead to biological responses in non-target cells after their neighboring cells have been irradiated. To help clarify how radiotherapy induces these effects, To help clarify how radiotherapy induces these effects, we analyzed single-cell RNA sequencing data from irradiated intestinal tissues on day 1 (T1 state), day 3 (T3 state), day 7 (T7 state), and day 14 (T14 state) after irradiation, as well as from healthy intestinal tissues (T0 state), to reveal the cellular level, molecular level, and involvement of different time irradiated mouse intestinal tissues in biological signaling pathways. In addition, changes in immune cell subpopulations and myeloid cell subpopulations after different radiation times were further explored, and gene regulatory networks (GRNs) of these cell subpopulations were constructed.

Adipose-derived mesenchymal stem cells may reduce intestinal epithelial damage in ulcerative colitis by communicating with macrophages and blocking inflammatory pathways: an analysis .

Ulcerative colitis is a chronic, non-specific inflammatory disease that affects mainly the colonic mucosa and submucosa. The pathogenesis of ulcerative colitis is unclear, which limits the development of effective treatments. In this study, single-cell sequencing data from 18 ulcerative colitis samples and 12 healthy controls were downloaded from the Single Cell Portal database, cell types were defined through cluster analysis, and genes in each cluster that were differentially expressed in ulcerative colitis were identified.

Identification and Validation of a Malignant Cell Subset Marker-Based Polygenic Risk Score in Stomach Adenocarcinoma Through Integrated Analysis of Bulk and Single-Cell RNA Sequencing Data.

The aim of the present study was to construct a polygenic risk score (PRS) for poor survival among patients with stomach adenocarcinoma (STAD) based on expression of malignant cell markers. Integrated analyses of bulk and single-cell RNA sequencing (scRNA-seq) of STAD and normal stomach tissues were conducted to identify malignant and non-malignant markers. Analyses of the scRNA-seq profile from early STAD were used to explore intratumoral heterogeneity (ITH) of the malignant cell subpopulations.

Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman.

Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two genetic disorders in the same patient, or an association between them. We report the case of a 23-year-old woman with cblC defect and KS.