Longitudinal Outcomes in Noonan Syndrome.

Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.

Decoding brain structure to stage Alzheimer's disease pathology in Down syndrome.

Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.

Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).

Prospective validation study of a combined urine and plasma test for predicting high-grade prostate cancer in biopsy naïve men.

Objective: Early and accurate diagnosis of prostate cancer (PC) is crucial for effective treatment. Diagnosing  clinically insignificant cancers can lead to overdiagnosis and overtreatment, highlighting the importance of accurately selecting patients for further evaluation based on improved risk prediction tools. Novel biomarkers offer promise for enhancing this diagnostic process.

Glucose Transporter 1 Deficiency Impairs Glucose Metabolism and Barrier Induction in Human Induced Pluripotent Stem Cell-Derived Astrocytes.

Glucose is a major source of energy for the brain. At the blood-brain barrier (BBB), glucose uptake is facilitated by glucose transporter 1 (GLUT1). GLUT1 Deficiency Syndrome (GLUT1DS), a haploinsufficiency affecting SLC2A1, reduces glucose brain uptake.

Identification of IGFBP3 and LGALS1 as potential secreted biomarkers for clear cell renal cell carcinoma based on bioinformatics analysis and machine learning.

Background: Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC). Due to the lack of symptoms until advanced stages, early diagnosis of ccRCC is challenging. Therefore, the identification of novel secreted biomarkers for the early detection of ccRCC is urgently needed.

Minimally Invasive vs Open Surgery for Thoracolumbar Fractures Treatment: A Meta-analysis of Randomized Controlled Trials and Prospective Studies.

Study Design: Meta-Analysis.

Objective: The purpose of this systematic review and meta-analysis was to pool the available data comparing MIS to open surgery for thoracolumbar fractures and provide a more comprehensive assessment on this topic.

Background: There remains a debate over whether minimally invasive surgery (MIS) or open fixation provides superior outcomes for patients with thoracolumbar fractures.

Advance care planning readiness, barriers, and facilitators among seriously ill Black older adults and their surrogates: A mixed methods study.

Objectives: Advance care planning (ACP) supports communication and medical decision-making and is best conceptualized as part of the care planning continuum. Black older adults have lower ACP engagement and poorer quality of care in serious illness. Surrogates are essential to effective ACP but are rarely integrated in care planning.

SAHD-10: Development and initial validation of a short version of the Schedule of Attitudes Toward Hastened Death based on a large multinational sample.

Objectives: Wishes to hasten death (WTHDs) are common in patients with serious illness. The Schedule of Attitudes Toward Hastened Death (SAHD) is a validated 20-item instrument for measuring WTHD. Two short versions have also been developed based on statistical item selection.

Identifying spatiotemporal patterns and drivers of fecal indicator bacteria in an urban lake for water quality assessment and management.

The designated uses of lakes connect individuals to the natural environment, but some can expose recreational users to pathogens associated with fecal contamination that cause waterborne illnesses. Routine monitoring of fecal indicators in surface waters helps identify and track sources of fecal contamination to protect public health. We examined fecal indicators ( and enterococci) and factors influencing recreational freshwater quality.

Molecular dynamics model of mechanophore sensors for biological force measurement.

Cellular forces regulate an untold spectrum of living processes, such as cell migration, gene expression, and ion conduction. However, a quantitative description of mechanical control remains elusive due to the lack of general, live-cell tools to measure discrete forces between biomolecules. Here we introduce a computational pipeline for force measurement that leverages well-defined, tunable release of a mechanically activated small molecule fluorophore.

Exploring public support for novel tobacco and alcohol control policies in Great Britain 2021-2023: A population-based cross-sectional survey.

Objective And Rationale: This study assessed support for novel tobacco compared with alcohol control policies among adults in Great Britain in 2021-2023. Objectives were to assess 1) overall level of support for tobacco compared to alcohol control policies; 2) level of support for tobacco compared to alcohol control policies among people who smoke tobacco or who consume alcohol at increasing and higher risk levels, or who do both; 3) level of support for tobacco compared to alcohol control policies among different sociodemographic groups?

Methods: Data were collected in September/October 2021-2023 in a monthly population-based survey on smoking and drinking behaviour of adults across Great Britain (N = 6311), weighted to match the overall population. Outcome measure was level of support for each seven tobacco and alcohol control policies.

AxonFinder: Automated segmentation of tumor innervating neuronal fibers.

Neurosignaling is increasingly recognized as a critical factor in cancer progression, where neuronal innervation of primary tumors contributes to the disease's advancement. This study focuses on segmenting individual axons within the prostate tumor microenvironment, which have been challenging to detect and analyze due to their irregular morphologies. We present a novel deep learning-based approach for the automated segmentation of axons, AxonFinder, leveraging a U-Net model with a ResNet-101 encoder, based on a multiplexed imaging approach.

The Safety of Multiple-Dose Liquid Blend Containing Kava and Kratom in Healthy Adults.

This study investigates the safety of three different daily dosages of a liquid blend containing kava and kratom (Feel Free® Classic Tonic {FFCT}) in healthy adults over six consecutive days of supplementation. Both kava and kratom have been used traditionally for hundreds of years, but there is limited data on the combined safety of these ingredients. In this randomized, double-blind, placebo-controlled trial, the participants were assigned to receive one of three daily dosages of FFCT or placebo.

Pembrolizumab Leads to Complete Response in an HIV Patient With a Solid Tumor and a Cluster of Differentiation 4 (CD4) Count Less Than 100.

A 58-year-old male, with a history of human immunodeficiency virus (HIV) and stage 4 left frontotemporal squamous cell carcinoma (SCC), presented with new-onset neck pain. He was diagnosed with HIV five years prior. The patient had a cluster of differentiation 4 (CD4) count of 53 cells/mm³ and a high viral load, later suppressed with bictegravir, emtricitabine, and tenofovir alafenamide (Biktarvy).

Fatal Delayed Cardiac Tamponade Following Atrial Fibrillation Ablation: A Case Report.

Catheter ablation procedure for symptomatic atrial fibrillation is an established treatment. Cardiac tamponade is one of the several complications associated with atrial fibrillation ablation. We present the case of a 60-year-old male with a past medical history of end-stage renal disease (ESRD) on hemodialysis, hypotension on midodrine, atrial fibrillation status post-ablation a week prior, and a cerebrovascular accident who presented to the emergency department with complaints of weakness, nausea, vomiting, confusion and some syncopal episodes for the past few days.

Striving for excellence in a little red dot: Exploring the evolution of oral and maxillofacial surgery training and practice in Singapore.

Oral and maxillofacial surgery (OMS) is a field that straddles knowledge and clinical experience from both medical and dental specialties. In the small island nation of Singapore, the rapidly and constantly changing needs of its diverse and aging population, as well as changes in the mindsets of both students and educators have led to many developments in the local OMS program. Tied to the only dental school in the country, the curriculum of the training program has kept up with the changes in the demographics and attitudes of the local patient pool, which comprises a multicultural population with both traditional and modern mindsets.

How does mHealth benefit older Chinese adults' quality of life? Examining the roles of eHealth literacy, health motivation, and patient activation.

Background: China is experiencing a rapid increase in its aging population, leading to the emergence of significant challenges to improve the quality of life (QoL) of older adults. The study aims to explore the potential benefits of using mobile health technology in improving the QoL for older Chinese adults.

Method: This study utilized a subsample of adults aged 60 and above from a cross-sectional, population-based national survey conducted among Chinese adults (N = 852).

Identification of the role of SNARE proteins in rAAV vector production through interaction with the viral MAAP.

Adeno-associated virus (AAV) expresses a membrane-associated accessory protein (MAAP), a small nonstructural protein, that facilitates AAV secretion out of the plasma membrane through an association with extracellular vesicles during AAV egress. Here, we investigated the host proteins that interact with AAV2 MAAP (MAAP2) using APEX2-mediated proximity labeling. We identified two SNARE proteins, Syntaxin 7 (STX7) and synaptosome-associated protein 23 (SNAP23), a vesicle (v-)SNARE and a target (t-)SNARE, respectively, that mediate intracellular trafficking of membrane vesicles aand exhibited associations with MAAP2 in HEK293 cells.

Expediated modeling of burn events results (EMBER): A screening-level dataset of 2023 ozone fire impacts in the US.

The Expedited Modeling of Burn Events Results (EMBER) dataset consists of 36-km grid-spacing Community Multiscale Air Quality (CMAQ) photochemical modeling for the summer of 2023. For emissions, these simulations utilized representative monthly and day-of-week anthropogenic emissions from a recent year and preliminary day-specific 2023 fire emissions derived using BlueSky pipeline. The base model run simulated ozone concentrations across the contiguous US during Apr 11-Sep 29, 2023.

Roadmap to advance therapeutics for -related disorder: a patient organization perspective from SynGAP Research Fund.

-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.

Fluid Intake and Hydration Responses to Mass Participation Gravel Cycling.

Gravel cycling is a relatively new cycling discipline, with the Union Cycliste Internationale (UCI) hosting their first World Championships in 2022. Gravel races combine features of road racing, cyclocross, and mountain biking, including terrain of varying technical difficulty, long distances, substantial elevation gain, obstacles, and limited opportunities to stop for in-race nutrition. This study assessed hydration responses to gravel races of three different distances.

Heart Rate and Blood Pressure Responses Vary Between Blood Flow Restriction Cuff Type.

The purpose of the study was to compare heart rate (HR), systolic blood pressure (SBP), and diastolic blood pressure (DBP) following high load resistance exercise (HLRE) and blood flow restriction exercise (BFRE) with a knee wrap (kBFRE) and pneumatic cuff (pBFRE). Eleven men (N = 9) and women (N = 2) participated. HR, SBP, and DBP were collected at Rest, immediately post exercise (IP), 10-, 30-, and 45-minutes post exercise.

Randomized Pilot Study Examining an Online Diet Intervention to Increase Intake of Fruits and Vegetables Among Healthy Adults.

Intake of fruits and vegetables (F&V) is related to health outcomes. The purpose of the study was to test an online diet program promoting F&V intake among healthy adults. Twenty-three participants were randomly assigned to complete an 8-week intervention condition (#800gChallenge®) or wait-list control condition.

Acute Effects of Serial and Integrated Concurrent Exercise on Circulating microRNAs -126 and -222 in Sedentary Adults.

The purpose of this study was to compare changes in circulating microRNAs -126 (c-miR-126) and -222 (c-miR-222) following acute serial concurrent exercise (SCE) and integrated concurrent exercise (ICE) sessions among young, sedentary adults. Ten males and 9 females completed the study procedures. For SCE, participants performed resistance exercise (RE) followed by aerobic exercise (AE), without mixing the two.

Small mammals and associated infections in China: a systematic review and spatial modelling analysis.

Background: As natural reservoirs of diverse pathogens, small mammals are considered a key interface for guarding public health due to their wide geographic distribution, high density and frequent interaction with humans.

Methods: All formally recorded natural occurrences of small mammals (Order: Rodentia, Eulipotyphla, Lagomorpha, and Scandentia) and their associated microbial infections in China were searched in the English and Chinese literature spanning from 1950 to 2021 and geolocated. Machine learning models were applied to determine ecological drivers for the distributions of 45 major small mammal species and two common rodent-borne diseases (RBDs), and model-predicted potential risk locations were mapped.