DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Echocardiography in the Ventilated Patient: What the Clinician Has to Know.

Heart and lung sharing the same anatomical space are influenced by each other. Spontaneous breathing induces dynamic changes in intrathoracic pressure, impacting cardiac function, particularly the right ventricle. In intensive care units (ICU), mechanical ventilation (MV) and therefore positive end-expiratory pressure (PEEP) are often applied, and this inevitably influences cardiac function.

Evolution of Nutritional Status in Patients Undergoing Autologous and Allogeneic Hematopoietic Cell Transplantation or CAR-T Therapy: A Retrospective Observational Study.

Background/objectives: Hematopoietic cell transplantation (HCT) is a curative treatment for various hematological diseases but can lead to complications which increase malnutrition risk, particularly in allogeneic transplantation patients. This study evaluates the nutritional status evolution of patients undergoing HCT during hospitalization and follow-up.

Methods: This retrospective observational study included 365 patients, divided into two groups: 134 underwent allogeneic HCT, while 231 underwent autologous transplantation or CAR-T therapy.

Relationship Between Left Atrial Strain and Atrial Fibrillation: The Role of Stress Echocardiography.

Interest in advanced echocardiographic imaging methods is growing. Left atrial strain (LAS) is among recently developed echocardiographic parameters. LAS represents an index of tissue deformation of the left atrium (LA).

Right Ventricle Function: The Role of the Forgotten Chamber in Mitral Valve Surgery.

Background: Referred to as the "forgotten chamber," the right ventricle (RV) is now widely acknowledged as a significant factor, particularly in certain cardiovascular pathologies. Despite historically being undervalued in comparison to the left ventricle, the RV function is deemed crucial in determining patient outcomes following mitral valve (MV) surgery. In the context of MV surgery, it is important to note that the RV is highly susceptible to dysfunction before, during, and after the surgical procedure.