Validating Rules for Defining No Improvement of Visual Acuity in Childhood Amblyopia.

Purpose: When treating amblyopia, it is important to define when visual acuity (VA) is no longer improving (i.e., stable) because treatment decisions may be altered based on this determination.

Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.

Purpose: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations in RPE65 (RPE65-IRD) in patients before and after subretinal gene augmentation therapy with voretigene neparvovec (Luxturna).

Methods: Application of advanced deep learning for automated retinal layer segmentation, specifically tailored for RPE65-IRD. Quantification of five novel biomarkers for the ellipsoid zone (EZ): thickness, granularity, reflectivity, and intensity.

Paired Single-Cell Transcriptome and DNA Barcode Detection in Zebrafish Using ScarTrace.

ScarTrace is a CRISPR/Cas9-based genetic lineage tracing method that allows for uniquely barcoding the DNA of single cells at a target GFP sequence during developing zebrafish embryos. Single cells from barcoded adult zebrafish can be isolated from various tissues (e.g.

Optimized smFISH Pipeline for Studying Nascent Transcription in Mouse Embryonic Tissue Samples.

Understanding the spatial and temporal dynamics of gene expression is crucial for unraveling molecular mechanisms underlying various biological processes. While traditional methods have offered insights into gene expression patterns, they primarily focus on mature mRNA transcripts, lacking real-time visualization of newly synthesized or nascent transcription events. Recent advancements in monitoring nascent transcription in live cells provide valuable insights into transcriptional dynamics.

Trends and epidemiology of children treated in specialized burn centers in the Netherlands between 2009 and 2022.

Unlabelled: Knowledge about trends and epidemiology of pediatric burns is useful to identify patterns, to advance medical research, and to design prevention programs and resource allocation. The aim of this study is to describe the epidemiology and trends of pediatric burns between 2009 and 2022 in the three Dutch burn centers. A secondary objective of this study is to evaluate the influence of the COVID-19 pandemic on the pattern of pediatric burns.

How and where Effectively Apply Cerebellum Stimulation: The frequency-dependent Modulation of Cerebellar Output by Transcranial Alternating Current Stimulation.

As brain-machine interfaces (BMI) are growingly used in clinical settings, understanding how to apply brain stimulation is increasingly important. Despite the emergence of optogenetic techniques, ethical and medical concerns suggest that interventions that are safe and non-invasive, such as Transcranial Alternating Current Stimulation (tACS), are more likely to be employed in human in the near future. Consequently, the question of how and where to apply current stimulation is becoming increasingly important for the efficient neuromodulation of both neurological and psychiatric disorders.

Physicians-in-training and advanced practice providers perceptions in managing perioperative obstructive sleep apnea: a multi-institutional survey.

Study Objectives: Physicians-in-training (residents, fellows) and Advanced Practice Providers (APPs) receive limited education on sleep disorders, including obstructive sleep apnea (OSA). They often assess patients first. We aimed to understand their views on OSA and screening for OSA in the perioperative period.

Interlaboratory assays from the fungal PCR Initiative and the Modimucor Study Group to improve qPCR detection of Mucorales DNA in serum: one more step toward standardization.

Unlabelled: The aim of this study was to identify parameters influencing DNA extraction and PCR amplification efficiencies in an attempt to standardize Mucorales qPCR. The Fungal PCR Initiative Mucorales Laboratory Working Group distributed two panels of simulated samples to 26 laboratories: Panel A (six sera spiked with Mucorales DNA and one negative control serum) and Panel B (six Mucorales DNA extracts). Panel A underwent DNA extraction in each laboratory according to the local procedure and were sent to a central laboratory for testing using three different qPCR techniques: one in-house qPCR assay and two commercial assays (MucorGenius and Fungiplex).

Identification and characterization of prophages rich in diversity-generating retroelements.

Metagenomics has revealed the incredible diversity of phages within the human gut. However, very few of these phages have been subjected to in-depth experimental characterization. One promising method of obtaining novel phages for experimental characterization is through induction of the prophages integrated into the genomes of cultured gut bacteria.

Outcomes and Impact of Device Iterations in Mitral Valve Transcatheter Edge-to-Edge Repair: The REPAIR Study.

Background: The PASCAL P10 system for mitral valve transcatheter edge-to-edge repair has undergone iterations, including introduction of the narrower Ace implant and the Precision delivery system.

Objectives: The study sought to evaluate outcomes and the impact of PASCAL mitral valve transcatheter edge-to-edge repair device iterations.

Methods: The REPAIR (REgistry of PAscal for mltral Regurgitation) study is an investigator-initiated, multicenter registry including consecutive patients with mitral regurgitation (MR) treated from 2019 to 2024.

Systolic Blood Pressure and Pulse Pressure in Heart Failure: Pooled Participant-Level Analysis of 4 Trials.

Background: Hypertension is common in patients with heart failure with mildly reduced or preserved ejection fraction (HFmrEF/HFpEF), and current guidelines recommend treating systolic blood pressure (SBP) to a target <130 mm Hg. However, data supporting treatment to this target are limited. Additionally, pulse pressure (PP), a marker of aortic stiffness, has been associated with increased risk of cardiovascular events, but its prognostic impact in HFpEF has not been extensively studied.

Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics.

Objectives: We aimed to classify genetic variants in RYR1 and CACNA1S associated with malignant hyperthermia using biobank genotyping data in patients exposed to triggering anesthetics without malignant hyperthermia phenotype.

Methods: We identified individuals who underwent surgery and were exposed to triggering anesthetics without malignant hyperthermia phenotype and who had RYR1 or CACNA1S genotyping data available in our biobank. We classified all variants in the cohort using a Bayesian framework of the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists guidelines for variant classification and updated the posterior probabilities from this model with the new information from our biobank cohort.

[Genomic Characterization of SARS-CoV-2 Isolates Obtained from Antalya, Türkiye].

As the number of coronavirus diseases-2019 (COVID-19) cases have decreased and measures have started to be implemented at an individual level rather than in the form of social restrictions, severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) still maintains its importance and has already taken its place in the spectrum of agents investigated in multiplex molecular test panels for respiratory tract infections in routine diagnostic use. In this study, we aimed to present mutation analysis and clade distribution of whole genome sequences from randomly selected samples that tested positive with SARS-CoV-2 specific real-time reverse transcription polymerase chain reaction (rRT-PCR) test at different periods of the pandemic in our laboratory with a commercial easy-to-use kit designed for next-generation sequencing systems. A total of 84 nasopharyngeal/oropharyngeal swab samples of COVID-19 suspected patients which were sent for routine diagnosis to the medical microbiology laboratory and detected as SARSCoV-2 RNA positive with rRT-PCR were randomly selected from different periods for sequence analysis.

Tunable Bicontinuous Macroporous Cell Culture Scaffolds via Kinetically Controlled Phase Separation.

3D scaffolds enable biological investigations with a more natural cell conformation. However, the porosity of synthetic hydrogels is often limited to the nanometer scale, which confines the movement of 3D encapsulated cells and restricts dynamic cell processes. Precise control of hydrogel porosity across length scales remains a challenge and the development of porous materials that allow cell infiltration, spreading, and migration in a manner more similar to natural ECM environments is desirable.

Dedifferentiation of a Chondrosarcoma of the Larynx: A Case Report.

Background: Chondrosarcomas of the larynx, relatively rare tumors with low grade pathology in approximately 95% of cases, can most often be managed with conservation laryngeal procedures. Dedifferentiated chondrosarcomas are much more rare and aggressive requiring more aggressive surgical extirpation.

Methods: A patient underwent three debulking procedures for a laryngeal chondrosarcoma Grade I/II histologically over a 2.

Cardiac fibroblast BAG3 regulates TGFBR2 signaling and fibrosis in dilated cardiomyopathy.

Loss of Bcl2-associated athanogene 3 (BAG3) is associated with dilated cardiomyopathy (DCM). BAG3 regulates sarcomere protein turnover in cardiomyocytes; however, the function of BAG3 in other cardiac cell types is understudied. In this study, we used an isogenic pair of BAG3-knockout and wild-type human induced pluripotent stem cells (hiPSCs) to interrogate the role of BAG3 in hiPSC-derived cardiac fibroblasts (CFs).

Sex-Based Differences in Endovascular Thrombectomy Outcomes for Large Ischemic Stroke: A SELECT2 Subanalysis.

Background: Several social and biological factors are shown to differentially affect stroke outcomes between men and women. We evaluated whether clinical outcomes and endovascular thrombectomy (EVT) treatment effects differed between the sexes in patients presenting with large ischemic stroke.

Methods: The SELECT2 trial (A Randomized Controlled Trial to Optimize Patient's Selection for Endovascular Treatment in Acute Ischemic Stroke) was a randomized controlled trial assessing the efficacy and safety of EVT in patients with large strokes across the United States, Canada, Europe, Australia, and New Zealand between October 2019 and September 2022.

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation.

Externalizing traits and behaviors are broadly defined by impairments in self-regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories. In this study, we sought to generate an algorithm that could reliably identify transdiagnostic childhood-onset externalizing cases and controls within a university hospital electronic health record (EHR) database.