Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

Sound innovations for biofabrication and tissue engineering.

Advanced biofabrication techniques can create tissue-like constructs that can be applied for reconstructive surgery or as in vitro three-dimensional (3D) models for disease modeling and drug screening. While various biofabrication techniques have recently been widely reviewed in the literature, acoustics-based technologies still need to be explored. The rapidly increasing number of publications in the past two decades exploring the application of acoustic technologies highlights the tremendous potential of these technologies.

Awake Supraglottic Airway Placement in Pediatric Patients for Airway Obstruction or Difficult Intubation: Insights From an International Airway Registry (PeDI).

Background: Small case series have described awake supraglottic airway placement in infants with significant airway obstruction and difficult intubations. We conducted this study to determine outcomes when supraglottic airways were placed in awake children enrolled in the international Pediatric Difficult Intubation Registry including success of ventilation, success of tracheal intubation, and complications.

Methods: We reviewed the Pediatric Difficult Intubation Registry to identify all cases of awake supraglottic airway placement before planned tracheal intubation from August 2012 to September 2023 with subsequent review of details of awake supraglottic airway placement in the medical record.

A Seat at the Table: Family Conferences for Infants with Neurological Conditions.

We aimed to characterize parents' perspectives on the value of and opportunities to improve conferences between parents of critically ill infants and the health care team. The parent perspective on the value of family conferences in the intensive care unit is not well characterized. In this descriptive qualitative study, parents of infants with neurological conditions in the intensive care unit at a U.

Predictors of death without prior appropriate therapy in ICD recipients: the comorbidities, frailty and functional status (COMFFORT study).

Objective: Most patients who have an implantable cardioverter-defibrillator (ICD) implant do not receive life-prolonging therapy from it. Little research has been undertaken to determine which patients benefit the least from ICD therapy. As patients age and accumulate comorbidities, the risk of death increases and the benefit of ICDs diminishes.

Randomized trial of anetumab ravtansine and pembrolizumab compared to pembrolizumab for mesothelioma.

Purpose: The mesothelin-targeting antibody-drug conjugate anetumab ravtansine was evaluated in combination with the programmed cell death-1 (PD-1) inhibitor pembrolizumab based on the common expression of mesothelin and reports of activity in mesothelioma.

Patients And Methods: A phase 1 safety run-in of the combination of anetumab ravtansine (6.5 mg/kg iv q3weeks) and pembrolizumab (200 mg, IV q3weeks) was conducted, followed by a phase 2 randomization to the combination or pembrolizumab alone at medical centers across the United States and Canada in the National Cancer Institute's Experimental Therapeutics Clinical Trials Network.

Acoustofluidic Virus Isolation via Bessel Beam Excitation Separation Technology.

The isolation of viruses from complex biological samples is essential for creating sensitive bioassays that assess the efficacy and safety of viral therapeutics and vaccines, which have played a critical role during the COVID-19 pandemic. However, existing methods of viral isolation are time-consuming and labor-intensive due to the multiple processing steps required, resulting in low yields. Here, we introduce the rapid, efficient, and high-resolution acoustofluidic isolation of viruses from complex biological samples via Bessel beam excitation separation technology (BEST).

Acoustofluidic-based therapeutic apheresis system.

Therapeutic apheresis aims to selectively remove pathogenic substances, such as antibodies that trigger various symptoms and diseases. Unfortunately, current apheresis devices cannot handle small blood volumes in infants or small animals, hindering the testing of animal model advancements. This limitation restricts our ability to provide treatment options for particularly susceptible infants and children with limited therapeutic alternatives.

Microplastic abundance and accumulation patterns in eelgrass (Zostera marina L.) meadows throughout coastal Massachusetts, USA.

Microplastics are fast-emerging as another potential threat to already globally declining seagrass ecosystems, but there is a paucity of in situ surveys showing their accumulations. Here, we surveyed multiple Zostera marina L. meadows in 2020 and 2021 across Massachusetts, USA, for microplastic contamination, as well as identified factors related to patterns of accumulation.

Anti-VEGF Pharmaceutical Prior Authorization in Retina Practices.

Importance: Anti-vascular endothelial growth factor (VEGF) intravitreal injections, a mainstay of treatment for many retinal diseases to optimize visual outcomes, have been included in prior authorization (PA) initiatives. However, if clinicians are extremely accurate in their use of anti-VEGF medications, such administrative burdens may need reconsideration.

Objective: To quantify PA for anti-VEGF medications (aflibercept, ranibizumab, and bevacizumab) that were approved and determine associated administrative burdens experienced by retina practices.

Does Gestural Communication Influence Later Spoken Language Ability in Minimally Verbal Autistic Children?

Purpose: The current study examined the predictive role of gestures and gesture-speech combinations on later spoken language outcomes in minimally verbal (MV) autistic children enrolled in a blended naturalistic developmental/behavioral intervention (Joint Attention, Symbolic Play, Engagement, and Regulation [JASPER] + Enhanced Milieu Teaching [EMT]).

Method: Participants were 50 MV autistic children (40 boys), ages 54-105 months ( = 75.54, = 16.

Critical Care in the Austere Environment.

Practice of critical care in austere settings involves navigating rapidly evolving environments, where physical resources, provider availability, and healthcare capacity are constrained. Austere Critical Care focuses on maintaining the highest standard of care possible for patients while also identifying resource limitations, responding to patient surges, and adhering to proper triage practices at the austere site. This includes transferring the patient when able and necessary.

SARS-CoV-2 Viral Load in the Nasopharynx at Time of First Infection Among Unvaccinated Individuals: A Secondary Cross-Protocol Analysis of 4 Randomized Trials.

Importance: SARS-CoV-2 viral load (VL) in the nasopharynx is difficult to quantify and standardize across settings, but it may inform transmission potential and disease severity.

Objective: To characterize VL at COVID-19 diagnosis among previously uninfected and unvaccinated individuals by evaluating the association of demographic and clinical characteristics, viral variant, and trial with VL, as well as the ability of VL to predict severe disease.

Design, Setting, And Participants: This secondary cross-protocol analysis used individual-level data from placebo recipients from 4 harmonized, phase 3 COVID-19 vaccine efficacy trials sponsored by Moderna, AstraZeneca, Janssen, and Novavax.

Acetaminophen for Prevention and Treatment of Organ Dysfunction in Critically Ill Patients With Sepsis: The ASTER Randomized Clinical Trial.

Importance: Acetaminophen (paracetamol) has many pharmacological effects that might be beneficial in sepsis, including inhibition of cell-free hemoglobin-induced oxidation of lipids and other substrates.

Objective: To determine whether acetaminophen increases days alive and free of organ dysfunction in sepsis compared with placebo.

Design, Setting, And Participants: Phase 2b randomized, double-blind, clinical trial conducted from October 2021 to April 2023 with 90-day follow-up.

Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.

Background: Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis and treatment are scarce, highlighting the need to better understand its underlying pathogenesis. Genome-wide association studies (GWAS) have emerged as a powerful tool for unravelling the pathogenic mechanisms involved in complex diseases.

"Lord Knows What's Being Done with My Blood!": Black Women's Perceptions of Biospecimen Donation for Clinical Research in the United States.

Purpose: Black women are underrepresented in clinical research and clinical trials. Knowledge gaps lead to biased clinical practice and care. There is a small but growing body of literature on Black women's perceptions about participation when biospecimen donation is sought by researchers.

Real-time coded measures in natural language samples capture change over time in minimally verbal autistic children.

Prior research supports the use of natural language sampling (NLS) to assess the rate of speech utterances (URate) and the rate of conversational turns (CTRate) in minimally verbal (MV) autistic children. Bypassing time-consuming transcription, previous work demonstrated the ability to derive URate and CTRate using real-time coding methods and provided support for their strong psychometric properties. (1) Unexplored is how URate and CTRate using real-time coding methods capture change over time and (2) whether specific child factors predict changes in URate and CTRate in 50 MV autistic children (40 males; M = 75.

Optogenetic control of Nodal signaling patterns.

A crucial step in early embryogenesis is the establishment of spatial patterns of signaling activity. Tools to perturb morphogen signals with high resolution in space and time can help reveal how embryonic cells decode these signals to make appropriate fate decisions. Here, we present new optogenetic reagents and an experimental pipeline for creaHng designer Nodal signaling patterns in live zebrafish embryos.

variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA as a novel syndromic NDD gene.

nhanesA: achieving transparency and reproducibility in NHANES research.

The National Health and Nutrition Examination Survey provides comprehensive data on demographics, sociology, health and nutrition. Conducted in 2-year cycles since 1999, most of its data are publicly accessible, making it pivotal for research areas like studying social determinants of health or tracking trends in health metrics such as obesity or diabetes. Assembling the data and analyzing it presents a number of technical and analytic challenges.