Identifying germline pathogenic variants in breast cancer using tumor sequencing.

Purpose: To investigate the performance of an in-house tumor sequencing panel to identify patients with breast cancer and a germline pathogenic variant (gPV).

Patients And Methods: Retrospective and blinded tumor sequencing analysis in 90 patients with breast cancer and prior germline genetic testing (45 non-carriers and 45 carriers of a gPV) using an in-house panel (VHIO-300). Sensitivity (S), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) of tumor sequencing were calculated.

A within-host model on the interaction dynamics between innate immune cells and Mycobacterium tuberculosis.

Tuberculosis is the leading cause of death worldwide from a single infectious agent; it has also been declared a threat to humanity by the World Health Organization. New insights indicate that the innate immune response plays a crucial role in determining the outcome of the infection. In this study, we assessed the role of macrophages in the innate immune response through a simple mathematical model.

INFECTIOUS ENTEROCOLITIS IN HEMATOPOIETIC CELL TRANSPLANT WITH POST-TRANSPLANT CYCLOPHOSPHAMIDE.

Background: Despite the high incidence of diarrhea in hematopoietic cell transplant (HCT) recipients, data on infectious enterocolitis with post-transplant cyclophosphamide (PTCy) for graft-versus-host disease (GVHD) prophylaxis remain limited.

Objectives: Evaluate the characteristics, incidence, risk factors, and impact on outcomes of infectious enterocolitis in patients with hematologic malignancies undergoing HCT from matched sibling, matched unrelated, and haploidentical donors using PTCy as GVHD prophylaxis.

Study Design: Retrospective analysis of infectious enterocolitis episodes in 399 patients undergoing HCT at a single institution.

Whole-genome transcriptomic profiling reveals distinct sex-specific responses to heat stroke.

Heat-related mortality remains health challenges exacerbated by climate change, with sex-based differences in outcomes, yet underlying mechanisms remain poorly understood. This study examined transcriptomic responses to heat exposure in peripheral blood mononuclear cells from 19 heat stroke patients (8 males, mean age 64.8 ± 6.