Single-cell analysis of aplastic anemia reveals a convergence of NK and NK-like CD8 T cells with a disease-associated TCR signature.

Immune aplastic anemia (AA) is a life-threatening bone marrow failure disorder driven by an autoimmune T cell attack against hematopoietic stem and progenitor cells (HSPCs). However, the exact autoantigen targets and role of other immune cells in the pathogenesis of AA are unknown. Here, we analyzed a cohort of 218 patients with AA using single-cell RNA and T cell receptor (TCR) αβ sequencing, TCRβ sequencing, flow cytometry, and plasma cytokine profiling.

Secreted IgM deficiency alters the retinal landscape enhancing neurodegeneration associated with aging.

Background: Maintenance of the retina, part of the central nervous system, and other structures in the eye is critical for vision preservation. Aging increases the prevalence of vision impairment, including glaucoma, macular degeneration, and diabetic retinopathy. The retina is primarily maintained by glial cells; however, recent literature suggests that lymphocytes may play a role in the homeostasis of central nervous system tissues.

Unveiling the psychosocial impact of Elexacaftor/Tezacaftor/Ivacaftor therapy in Cystic Fibrosis patients.

Background: This study aimed to assess how Elexacaftor/Tezacaftor/Ivacaftor (ETI) influences lung function, Body Mass Index (BMI), Sweat Test (ST) and mental health of Cystic Fibrosis (CF) patients, emphasizing on depression and anxiety.

Methods: We conducted an observational, prospective, multicentre study including 108 patients over 18 years old who initiated ETI therapy between December 2019 and December 2023. Patients underwent regular evaluations, including clinical, functional, and microbiological assessments, alongside completion of quality of life, anxiety, and depression questionnaires.

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes.

Introduction: 11β-hydroxylase (11β-OH) deficiency is the second most frequent cause of classic congenital adrenal hyperplasia (CAH) (5%-8% of cases). Clinically, it is characterized by virilization and arterial hypertension. The objective of this study was to describe the clinical, biochemical and genetic characteristics classic 11β-OH deficiency in patients managed in our hospital and its outcomes.

Early Versus Bail-Out Left Ventricular Unloading During Venoarterial Extracorporeal Membrane Oxygenation: A Systematic Review And Meta-Analysis.

Left ventricular (LV) unloading has demonstrated favorable outcomes in patients undergoing venoarterial extracorporeal membrane oxygenation (VA-ECMO). However, the optimal timing for LV unloading during VA-ECMO remains controversial. PubMed, Embase, and Cochrane were searched for studies comparing early versus bail-out LV unloading in patients undergoing VA-ECMO.