A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype.

Red blood cell disorders can result in severe anemia. One such disease congenital dyserythropoietic anemia IV (CDA IV) is caused by the heterozygous mutation E325K in the transcription factor KLF1. However, studying the molecular basis of CDA IV is severely impeded by the paucity of suitable and adequate quantities of material from patients with anemia and the rarity of the disease.

Incidence, predictors and outcomes of new onset systolic heart failure following orthotopic liver transplant: A systematic review.

Background: New onset Systolic heart failure (SHF), characterized by new onset left ventricular (LV) systolic dysfunction with a reduction in ejection fraction (EF) of <40%, is a common cause of morbidity and mortality among Orthotopic liver transplant (OLT) recipients. Therefore, we aimed to evaluate the prevalence, the pre-transplant predictors, and the prognostic impact of SHF post-OLT.

Methods: We conducted a systematic review of the literature using electronic databases MEDLINE, Web of Science, and Embase for studies reporting acute systolic heart failure post-liver transplant from inception to August 2021.

Computational study of biomechanical drivers of renal cystogenesis.

Renal cystogenesis is the pathological hallmark of autosomal dominant polycystic kidney disease, caused by PKD1 and PKD2 mutations. The formation of renal cysts is a common manifestation in ciliopathies, a group of syndromic disorders caused by mutation of proteins involved in the assembly and function of the primary cilium. Cystogenesis is caused by the derailment of the renal tubular architecture and tissue deformation that eventually leads to the impairment of kidney function.

The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology.

Previous studies suggested that severe epilepsies e.g., developmental and epileptic encephalopathies (DEE) are mainly caused by ultra-rare genetic variants.

Immune thrombotic thrombocytopenic purpura: Spotlight on long-term outcomes and survivorship.

Advances in diagnosis and treatment have dramatically improved survival of acute immune thrombotic thrombocytopenic purpura (iTTP) and iTTP has evolved from an acute fatal condition to a chronic relapsing disorder. In addition to the risk of iTTP relapse, iTTP survivors are at risk of multiple adverse health outcomes including higher than expected rates of all-cause mortality, increased rates of stroke and other cardiovascular disease, and higher rates of morbidities such as obesity, hypertension, and autoimmune disorders. iTTP survivors also report neurocognitive impairment, depression, and reduced quality of life.

Acute and long-term results with the 3 generation visually guided laser balloon ablation system for pv isolation.

Background: Visually guided laser balloon ablation is known as an effective pulmonary vein (PV) isolation device. The third-generation laser balloon ablation system (X3) equipped with compliant balloon and an automated motor-driven laser output mechanism, namely RAPID mode, has been clinically proven for PV isolation.

Methods: PV isolation with X3 was performed in all the patients with paroxysmal and early-stage persistent atrial fibrillation (AF).

Associations between Elemental Metabolic Dynamics and Default Mode Network Functional Connectivity Are Altered in Autism.

Autism is a neurodevelopmental condition associated with atypical social communication, cognitive, and sensory faculties. Recent advances in exposure biology suggest that biomarkers of elemental uptake and metabolism measured in hair samples can yield an effective signal predictive of autism diagnosis. Here, we investigated if elemental biomarkers in hair were associated with functional connectivity in regions of the default mode network (DMN) previously linked to autism.

Very High-Power Short-Duration, Temperature-Controlled Radiofrequency Ablation in Paroxysmal Atrial Fibrillation: The Prospective Multicenter Q-FFICIENCY Trial.

Background: QDOT MICRO (QDM) is a novel contact force-sensing catheter optimized for temperature-controlled radiofrequency (RF) ablation. The very high-power short-duration (vHPSD) algorithm modulates power, maintaining target temperature during 90 W ablations for ≤4 seconds.

Objectives: This study aims to evaluate safety and 12-month effectiveness of the QDM catheter in paroxysmal atrial fibrillation (AF) ablation using the vHPSD mode combined with conventional-power temperature-controlled (CPTC) mode.

DDR2 coordinates EMT and metabolic reprogramming as a shared effector of FOXQ1 and SNAI1.

While multiple transcription factors (TFs) have been recognized to drive epithelial-mesenchymal transition (EMT) in cancer, their interdependence and context-dependent functions are poorly understood. In this study, we show that FOXQ1 and SNAI1 act as independent TFs within the EMT program with a shared ability to upregulate common EMT TFs without reciprocally impacting the expression of one another. Despite this independence, human mammary epithelial cells (HMLE) with ectopic expression of either FOXQ1 or SNAI1 share a common gene set that is enriched for a DDR2 coexpression signature.

Impairment of attention network function in posterior circulation ischemia-evidence from the Attention Network Test.

Objective: This study aimed to investigate the effect of posterior circulation ischemia (PCI) on attention network function and to determine whether PCI is holistic or selective attention network deficit and which attention network is affected.

Methods: Thirty-six PCI patients aged 30 to 75 were assessed using the Attention Network Test and the Mini-Mental State Examination (MMSE). There were no significant differences in age, sex, and education between PCI group and the control group ( = 32).

Bayesian network analysis of panomic biological big data identifies the importance of triglyceride-rich LDL in atherosclerosis development.

Introduction: We sought to explore biomarkers of coronary atherosclerosis in an unbiased fashion.

Methods: We analyzed 665 patients (mean ± SD age, 56 ± 11 years; 47% male) from the GLOBAL clinical study (NCT01738828). Cases were defined by the presence of any discernable atherosclerotic plaque based on comprehensive cardiac computed tomography (CT).

COPD: Providing the right treatment for the right patient at the right time.

Chronic Obstructive Pulmonary Disease (COPD) is a common disease associated with significant morbidity and mortality that is both preventable and treatable. However, a major challenge in recognizing, preventing, and treating COPD is understanding its complexity. While COPD has historically been characterized as a disease defined by airflow limitation, we now understand it as a multi-component disease with many clinical phenotypes, systemic manifestations, and associated co-morbidities.

Generation, characterization, and use of EKLF(Klf1)/CRE knock-in mice for cell-restricted analyses.

Introduction: EKLF/Klf1 is a tissue-restricted transcription factor that plays a critical role in all aspects of erythropoiesis. Of particular note is its tissue-restricted pattern of expression, a property that could prove useful for expression control of a linked marker or enzymatic gene.

Methods And Results: With this in mind, we fused the CRE recombinase to the genomic EKLF coding region and established mouse lines.

Proteolysis of vaginally administered bovine lactoferrin: clearance, inter-subject variability, and implications for clinical dosing.

This report describes proteolytic fragmentation and clearance of bovine lactoferrin (bLF) upon intravaginal administration in premenopausal women. Tablet formulations (MTbLF) containing 300 mg of bLF progressed through three phases: Pre-Dissolution, Dissolution, and Washout, over a 30-h time course. Tablets dissolved slowly, replenishing intact 80 kDa bLF in vaginal fluid (VF) as proteolysis occurred.

Relation of blood lead levels and lead in gasoline: an updated systematic review.

Background: Millions of tons of lead were added to gasoline worldwide beginning in 1922, and leaded gasoline has been a major source of population lead exposure. In 1960s, lead began to be removed from automotive gasoline. Removal was completed in 2021.

Elemental Dynamics in Hair Accurately Predict Future Autism Spectrum Disorder Diagnosis: An International Multi-Center Study.

Autism spectrum disorder (ASD) is a neurodevelopmental condition diagnosed in approximately 2% of children. Reliance on the emergence of clinically observable behavioral patterns only delays the mean age of diagnosis to approximately 4 years. However, neural pathways critical to language and social functions develop during infancy, and current diagnostic protocols miss the age when therapy would be most effective.

circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment.

Exonic circular RNAs (circRNAs) produce predominantly non-coding RNA species that have been recently profiled in many tumors. However, their functional contribution to cancer progression is still poorly understood. Here, we identify the circRNAs expressed in soft tissue sarcoma cells and explore how the circRNAs regulate sarcoma growth in vivo.

Neuropsychiatric Consequences of COVID-19 Pandemic: A Synthetic Review from a Global Perspective.

Some research suggests that distress, secondary to isolation and fear following COVID-19 infection, can negatively affect the long-term more than the COVID-19 infection itself. This narrative review aims to provide a global view on the neuropsychiatric consequences of COVID-19 that can be ascribed to several factors, ranging from the direct effect of infection, to the body's responses against the infection, or to the psychological sequelae of social isolation, unemployment, and fear for one's health and livelihood. Current findings show that the more severe the respiratory infection, the more likely are central nervous system (CNS) complications regarding the infection itself.

Antimicrobial activity of bovine lactoferrin against species clinical isolates.

species play a key role in the development and recurrence of Bacterial Vaginosis (BV), a common imbalance of the vaginal microbiota. Because of the high rates of BV recurrence reported after treatment with standard of care antibiotics, as well as the emergence of antibiotic-resistant BV, the development of alternative treatment approaches is needed. Bovine lactoferrin, a well studied iron-binding glycoprotein with selective antimicrobial activity, may ameliorate vaginal dysbiosis either alone or in combination with antibiotics.

DCD Hepatitis C Virus-positive Donor Livers Can Achieve Favorable Outcomes With Liver Transplantation and Are Underutilized.

Background: Hepatitis C virus (HCV)-positive donors (antibody-positive [Ab + ] or nucleic acid test positive [NAT + ] donors) have been underutilized. The aim of this study was to evaluate the utilization of livers from HCV-positive with donation after circulatory death (DCD) and to assess outcomes in recipients of these grafts.

Methods: Data between 2015 and 2019 were obtained from the United Network for Organ Sharing database.