An iPSC model of fragile X syndrome reflects clinical phenotypes and reveals m A-mediated epi-transcriptomic dysregulation underlying synaptic dysfunction.

Fragile X syndrome (FXS), the leading genetic cause of intellectual disability, arises from gene silencing and loss of the FMRP protein. N6-methyladenosine (m A) is a prevalent mRNA modification essential for post-transcriptional regulation. FMRP is known to bind to and regulate the stability of m A-containing transcripts.

The visual experience dataset: Over 200 recorded hours of integrated eye movement, odometry, and egocentric video.

We introduce the Visual Experience Dataset (VEDB), a compilation of more than 240 hours of egocentric video combined with gaze- and head-tracking data that offer an unprecedented view of the visual world as experienced by human observers. The dataset consists of 717 sessions, recorded by 56 observers ranging from 7 to 46 years of age. This article outlines the data collection, processing, and labeling protocols undertaken to ensure a representative sample and discusses the potential sources of error or bias within the dataset.

Discovery of an Anteriorly Deviated, Partially Ossified Xiphoid Process With a Large, Teardrop-Shaped Foramen in a Male Cadaver.

The sternum, or "breastbone," is a principal bony component of the anterior thoracic wall and comprises the manubrium of the sternum, the body of the sternum, and the xiphoid process. The xiphoid process is the most inferior of these elements and commonly presents as a small, solid bone shaped like an inverted triangle. However, clinical literature has reported numerous variations in its size, shape, and presentation, likely the result of its lengthy embryological development from cartilage into fully ossified bone.

Bilateral Sternalis Muscles: The Clinical Significance of This Rare Discovery.

This case report explores the physical characteristics and clinical significance of the sternalis muscle, an uncommon anatomical variation of the anterior thoracic wall. If present, the sternalis muscle may distort diagnostic images and can be associated with incorrect interpretation of such medical images, misdiagnoses, and even surgical complications. As such, enhancing clinicians' knowledge of this muscle and improving its recognition is of the utmost importance.

Characterizing the impact of thermoregulation in patients after cardiac arrest: a retrospective cohort study.

Purpose: Core body temperature has been extensively investigated as a thereuptic target in care after cardiac arrest. Nevertheless, the integrity of thermoregulation in patients after cardiac arrest has not been well studied. We sought to evaluate whether low spontaneous body temperature after cardiac arrest is associated with increased death and a worse neurologic outcome, and whether patients with low spontaneous body temperature exhibit features suggestive of impaired thermoregulation.

Diagnostic Test Utilization Management Strategies as an Opportunity for Equitable Access to Molecularly Informed Clinical Care.

Background: Companion diagnostics are an essential component of oncology. Timing, cost, and adaptability to new drug/biomarker approvals represent challenges in assuring value-based care. Overcoming these challenges requires strategies for equitable access and efficient integration.

Automated Bioanalytical Workflow for Ligand Binding-Based Pharmacokinetic Assay Development.

The growth of therapeutic monoclonal antibodies (mAbs) continues to accelerate due to their success as treatments for many diseases. As new therapeutics are developed, it is increasingly important to have robust bioanalytical methods to measure the pharmacokinetics (PK) of circulating therapeutic mAbs in serum. Ligand-binding assays such as enzyme-linked immunosorbent assays (ELISAs) with anti-idiotypic antibodies (anti-IDs) targeting the variable regions of the therapeutic antibody are sensitive and specific bioanalytical methods to measure levels of therapeutic antibodies in a biological matrix.

Atypically Taut Superior Polar Splenic Artery Discovered in a Human Cadaver.

The splenic artery is the largest branch of the celiac trunk and frequently presents with anatomical variability. These variations relate to its origin, trajectory, location relative to the pancreas, terminal branching pattern, and the potential presence of polar arteries. Knowledge of the splenic artery's variability may inform gastrointestinal surgeons as they plan and execute surgical interventions, resulting in improved success rates while minimizing both operative complications and procedural time.

A Systematic Review of Clinical Practice Guidelines for Neonatal Abstinence Syndrome.

Background: The prevalence of neonatal abstinence syndrome is increasing, but the number and quality of clinical practice guidelines available are unknown. This systematic review aimed to identify, appraise and evaluate clinical practice guidelines for neonatal abstinence syndrome.

Methods: A systematic search of databases and the grey literature was conducted between 1 June and 1 July 2022.

Mixing Allograft and Xenograft for a Predictable Alveolar Ridge Preservation Procedure: A Case Series.

Background: An alveolar ridge preservation (ARP) procedure is commonly performed to preserve ridge width and height for optimal dental implant placement. Mixing different sources of bone grafts may help maximize their properties to obtain predictable ARP results.

Objective: The aim of this case series is to highlight the clinical and radiographic outcomes of a combined allograft and xenograft approach for a predictable ARP procedure.

Exploring the Skin Brain Link: Biomarkers in the Skin with Implications for Aging Research and Alzheimer's Disease Diagnostics.

Neurodegenerative diseases, including Alzheimer's disease (AD), are challenging to diagnose. Currently the field must rely on imperfect diagnostic modalities. A recent study identified differences in several key bio-mechano-physiological parameters of the skin between AD patients and healthy controls.

F-Type Pyocins Are Diverse Noncontractile Phage Tail-Like Weapons for Killing .

Most Pseudomonas aeruginosa strains produce bacteriocins derived from contractile or noncontractile phage tails known as R- and F-type pyocins, respectively. These bacteriocins possess strain-specific bactericidal activity against P. aeruginosa and likely increase evolutionary fitness through intraspecies competition.

Multi-omic approach associates blood methylome with bronchodilator drug response in pediatric asthma.

Background: Albuterol is the drug most widely used as asthma treatment among African Americans despite having a lower bronchodilator drug response (BDR) than other populations. Although BDR is affected by gene and environmental factors, the influence of DNA methylation is unknown.

Objective: This study aimed to identify epigenetic markers in whole blood associated with BDR, study their functional consequences by multi-omic integration, and assess their clinical applicability in admixed populations with a high asthma burden.

Novel treatment for hypotonic airway obstruction and severe obstructive sleep apnea using a nasopharyngeal airway device with 3D printing innovation.

Study Objectives: Pediatric obstructive sleep apnea impacts child and familial well-being. Airway management in patients with hypotonic pharyngeal conditions is complex. Some patients may benefit from continuous positive airway pressure or bilevel positive airway pressure, others may require further invasive measures for treatment.

Epigenome-wide association study of lung function in Latino children and youth with asthma.

Introduction: DNA methylation studies have associated methylation levels at different CpG sites or genomic regions with lung function. Moreover, genetic ancestry has been associated with lung function in Latinos. However, no epigenome-wide association study (EWAS) of lung function has been performed in this population.

Treatment Resistance: A Time-Based Approach for Early Identification in First Episode Psychosis.

Although approximately 1/3 of individuals with schizophrenia are Treatment Resistant (TR), identifying these subjects prospectively remains challenging. The Treatment Response and Resistance in Psychosis working group defines <20% improvement as an indicator of TR, though its utility in First Episode Schizophrenia (FES) remains unknown. In a prospective cohort of FES ( = 129) followed up for 5 years, we evaluated two improvement thresholds for 'probable TR'; <20% and <50% based on positive, negative, and total symptoms.

Comparison of k-wire insertion using oscillatory and unidirectional drilling modes under constant thrust force.

Heat generation during the Kirschner wire (K-wire) insertion process, under either unidirectional or oscillatory drilling mode, places bone at risk of thermal osteonecrosis which can lead to infection. There is a lack of quantitative understanding of the heat generation difference between the two drilling modes and knowledge of optimal thrust force level under each mode is missing. The goal of this study is to investigate the effects of drilling modes and thrust force levels on the bone drilling outcomes.

Flexible High-Resolution Force and Dimpling Measurement System for Pia and Dura Penetration During In Vivo Microelectrode Insertion Into Rat Brain.

Objective: Understanding the in vivo force and tissue dimpling during micro-electrode implantation into the brain are important for neuro-electrophysiology to minimize damage while enabling accurate placement and stable chronic extracellular electrophysiological recordings. Prior studies were unable to measure the sub-mN forces exerted during in vivo insertion of small electrodes. Here, we have investigated the in vivo force and dimpling depth profiles during brain surface membrane rupture (including dura) in anesthetized rats.

Multi-Bevel Needle Design Enabling Accurate Insertion in Biopsy for Cancer Diagnosis.

Objective: To obtain definitive cancer diagnosis for suspicious lesions, accurate needle deployment and adequate tissue sampling in needle biopsy are essential. However, the single-bevel needles in current biopsy devices often induce deflection during insertion, potentially causing lesion missampling/undersampling and cancer misdiagnosis. This study aims to reveal the biopsy needle design criteria enabling both low deflection and adequate tissue sampling.

Neoplastic-Stromal Cell Cross-talk Regulates Matrisome Expression in Pancreatic Cancer.

Pancreatic ductal adenocarcinoma (PDAC) is characterized by a highly desmoplastic reaction, warranting intense cancer-stroma communication. In this study, we interrogated the contribution of the BET family of chromatin adaptors to the cross-talk between PDAC cells and the tumor stroma. Short-term treatment of orthotopic xenograft tumors with CPI203, a small-molecule inhibitor of BET proteins, resulted in broad changes in the expression of genes encoding components of the extracellular matrix (matrisome) in both cancer and stromal cells.