Exploring new horizons in neovascular age-related macular degeneration: novel mechanisms of action and future therapeutic avenues.

Neovascular age-related macular degeneration (nAMD) can lead to significant vision impairment through the growth of abnormal neovascular membranes in the choroid. Despite advancements with current anti-vascular endothelial growth factor (VEGF) therapies, challenges such as frequent injections, inadequate response, and patient-related concerns persist. Emerging therapeutics aim to reduce vision-loss through a variety of mechanisms.

Protocol for analyzing plasma cell-free DNA fragment end motifs from ultra-low-pass whole-genome sequencing.

Circulating cell-free DNA (cfDNA) fragment end motif profiles are a promising biomarker in precision oncology. Here, we present a protocol for analyzing plasma cfDNA fragment end motifs from ultra-low-pass whole-genome sequencing (WGS) data. We detail a pipeline composed of sequential bash scripts for processing post-alignment BAM files.

Common Genetic Variant Associated With Atrial Fibrillation Lowers Expression of Nesprin-2α1 With Downstream Effects on Nuclear and Electrophysiological Traits.

Background: Atrial fibrillation GWAS (genome-wide association studies) identified significant associations for rs1152591 and linked variants in the gene encoding Nesprin-2, which connects the nuclear membrane with the cytoskeleton.

Methods: Reporter gene vector transfection and CRISPR-Cas9 editing were used to identify the causal variant regulating the expression of . After knockdown or overexpression in human stem cell-derived cardiomyocytes, nuclear phenotypes were assessed by imaging and atomic force microscopy.

Bariatric and Metabolic Surgery in the Adult Population: What a Primary Care Provider Needs to Know.

Obesity is a significant public health concern worldwide and a leading cause of preventable death and morbidity, but the management of this condition remains a challenge. Metabolic and bariatric surgery (MBS) is safe and currently has the most consistent and robust data among anti-obesity interventions for ameliorating obesity and its associated complications. Despite the benefits and safety of MBS, it is significantly underused.

A Multivariate Approach to Quantifying Risk Factors Impacting Stereotactic Robotic-Guided Stereoelectroencephalography.

Background And Objectives: Stereoelectroencephalography (SEEG) is an important method for invasive monitoring to establish surgical candidacy in approximately half of refractory epilepsy patients. Identifying factors affecting lead placement can mitigate potential surgical risks. This study applies multivariate analyses to identify perioperative factors affecting stereotactic electrode placement.

The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.

Patients with PTEN hamartoma tumor syndrome (PHTS), a molecular diagnosis for those carrying germline PTEN pathogenic variants, have a high prevalence of benign and malignant thyroid disease. Characterizing the genomic landscape in PHTS thyroid tumors could provide insights into malignant potential and tumor progression to help optimize diagnosis, surveillance, and treatment in this population. To reveal the somatic alterations in PHTS-associated thyroid tumors, we conducted exome sequencing on 58 thyroid tumors (28 cancers, 30 benign nodules) from 19 patients with PHTS.

A NOVEL FOUR-POINT SCLERAL FIXATION TECHNIQUE WITH A HYDROPHOBIC INTRAOCULAR LENS: The Loop to Optic and Trailing end to Outside Technique.

Purpose: To describe a new surgical technique that combines four-point, flanged polypropylene scleral fixation with a hydrophobic intraocular lens (IOL).

Methods: Using the Envista MX60 and 6.0 polypropylene, scleral four-point fixation was achieved using a flanged-suture technique five times in a model eye and in a case series of eight patients, retrospectively reviewed.

Treatment of OSA and its Impact on Cardiovascular Disease, Part 2: JACC State-of-the-Art Review.

Many studies have shown an association of obstructive sleep apnea (OSA) with incident cardiovascular diseases, particularly when comorbid with insomnia, excessive sleepiness, obesity hypoventilation syndrome, and chronic obstructive pulmonary disease. Randomized controlled trials (RCTs) have demonstrated that treatment of OSA with positive airway pressure devices (CPAP) improves systemic hypertension, particularly in those with resistant hypertension who are adherent to CPAP. However, large RCTs have not shown long-term benefits of CPAP on hard cardiovascular outcomes, but post hoc analyses of these RCTs have demonstrated improved hard outcomes in those who use CPAP adequately.

A Patient-Centered Perspective on Changes in Personal Characteristics After Deep Brain Stimulation.

Importance: Deep brain stimulation (DBS) results in improvements in motor function and quality of life in patients with Parkinson disease (PD), which might impact a patient's perception of valued personal characteristics. Prior studies investigating whether DBS causes unwanted changes to oneself or one's personality have methodological limitations that should be addressed.

Objective: To determine whether DBS is associated with changes in characteristics that patients with PD identify as personally meaningful.

Virtual Nephron: Evaluation of a Novel Virtual Reality Educational Tool.

Introduction: Recent technological advancements allowed the development of engaging technological tools. Using ASN funding from the ASN, we developed a 3D Virtual Reality (VR) physiology course entitled DiAL-Neph (Diuretic Action and eLectrolyte transport in the Nephron). We hereby present its evaluation.

Investigating feelings of imposterism in first-year medical student narratives.

Introduction: Imposter phenomenon (IP), feeling as if a person does not belong, has been reported in medical students at various rates. In medical literature, this phenomenon has often been defined as a 'syndrome', but other studies have described it as a dynamic experience that can have various impacts on different people at different time points. Although studies have linked IP with other phenomena such as burnout in residents and physicians, no studies have examined its aetiology nor how these feelings are experienced by medical students.

Predictors of spontaneous pregnancy loss in single ventricle physiology.

Background: Pregnant patients with single ventricle (SV) physiology carry a high risk of spontaneous pregnancy loss (SPL), yet the clinical factors contributing to this risk are not well defined.

Methods: Single-centre retrospective study of pregnant patients with SV physiology seen in cardio-obstetrics clinic over the past 20 years with chart review of their obstetric history. Patients without a known pregnancy outcome were excluded.

Impact of the COVID-19 Lockdown on Primary Bariatric Surgery: A Comparative Study of Weight Loss Trajectories and Perioperative Outcomes.

The COVID-19 pandemic and subsequent lockdowns led to substantial changes in health-related behaviors and deferred elective surgeries. This study aimed to evaluate the impact of the COVID-19 lockdown on weight loss trajectories (WLT) and perioperative outcomes in primary bariatric surgery at a single tertiary referral center. Patients who underwent primary bariatric surgery immediately prior to the enforced lockdown (During-Lockdown Group, DLG) were compared with historical controls who underwent surgery before the lockdown (Before-Lockdown Group, BLG).

One-Year Weight Reduction With Semaglutide or Liraglutide in Clinical Practice.

Importance: Limited data are available on long-term weight loss achieved with semaglutide or liraglutide for type 2 diabetes (T2D) or obesity in clinical practice.

Objective: To document weight loss achieved with injectable forms of semaglutide or liraglutide and identify factors associated with weight reduction of 10% or greater at 1 year.

Design, Setting, And Participants: This retrospective cohort study used electronic health records from a large, integrated health system in Ohio and Florida.

Salvage local treatment for recurrent prostate cancer after focal therapy: A systematic review and meta-analysis.

Objectives: To evaluate the role of salvage local treatment in managing recurrent PCa following FT, focusing on oncological and functional outcomes.

Methods: A systematic review and meta-analysis were performed following the PRISMA framework. A comprehensive literature search using the PubMed/MEDLINE and EMBASE databases was performed until July 2023.

Macrophage migration inhibitory factor as a therapeutic target in neuro-oncology: A review.

Primary central nervous system (CNS) tumors affect tens of thousands of patients each year, and there is a significant need for new treatments. Macrophage migration inhibitory factor (MIF) is a cytokine implicated in multiple tumorigenic processes such as cell proliferation, vascularization, and immune evasion and is therefore a promising therapeutic target in primary CNS tumors. There are several MIF-directed treatments available, including small-molecule inhibitors, peptide drugs, and monoclonal antibodies.

Respiratory viruses: Preventive and therapeutic approaches to diverse pathogens.

Viral respiratory diseases affect millions of individuals worldwide each year. Annual vaccinations are recommended by the World Health Organization for some of them, such as influenza and more recently for the coronavirus disease of 2019 (COVID-19) and respiratory syncytial virus, with the goal of reducing disease severity and limiting transmission. In the context of infection and vaccination, it is of primary importance to evaluate the immune response to pathogens to shed light on the mechanisms of protection.