Extreme Phenotypic Variability of -Related Disorders in Hearing Loss.

Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in , coding for gamma (γ)-actin, are associated with classical Baraitser-Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness.

Identifying the Mechanism of Interaction Between Soil Moisture State and Summertime MCS Initiations in Weakly Forced Synoptic Environments Using Convective-Permitting Simulations.

This work aims to identify a mechanism of interaction between soil moisture (SM) state and the incidence of weakly forced synoptic scale MCS events during boreal summer by performing a sensitivity study using the Weather Research and Forecasting (WRF) model over the US Great Plains. A uniformly dry SM patch at a 5° × 5° scale is centered at the point of a documented MCS initiation to observe spatiotemporal changes of the simulated MCS events, totaling 97 cases between 2004 and 2017. A storm-centered composite analysis of SM at the location of simulated MCS events depicted SM heterogeneity [O(100) km] structured as significantly drier soils to the southwest (SW) transitioning to wetter soils northeast (NE) of the mean simulated initiation.

Galectin-3, Metabolic Risk, and Incident Heart Failure: The ARIC Study.

Background: It is unclear how metabolic syndrome (MetS) and diabetes affect Gal-3 (galectin 3) levels and the resulting implications for heart failure (HF) risk. We assessed relationships of MetS and diabetes with Gal-3, and their joint associations with incident HF.

Methods And Results: We included 8445 participants without HF (mean age, 63 years; 59% men; 16% Black race) at ARIC (Atherosclerosis Risk in Communities) study visit 4 (1996-1999).

Life's Essential 8 and Incident Hypertension Among US Hispanic/Latino Adults: Results From the Hispanic Community Health Study/Study of Latinos.

Background: Life's Essential 8 (LE8) is a new metric to define cardiovascular health. We aimed to describe LE8 among Hispanics/Latinos and its association with incident hypertension.

Methods And Results: The HCHS/SOL (Hispanic Community Health Study/Study of Latinos) is a study of Hispanic/Latino adults aged 18 to 74 years from 4 US communities.

Ten-Year Review of Antihypertensive Prescribing Practices After Stroke and the Associated Disparities From the Florida Stroke Registry.

Background: Guideline-based hypertension management is integral to the prevention of stroke. We examine trends in antihypertensive medications prescribed after stroke and assess how well a prescriber's blood pressure (BP) medication choice adheres to clinical practice guidelines (BP-guideline adherence).

Methods And Results: The FSR (Florida Stroke Registry) uses statewide data prospectively collected for all acute stroke admissions.

Transcriptomics for Clinical and Experimental Biology Research: Hang on a Seq.

Sequencing the human genome empowers translational medicine, facilitating transcriptome-wide molecular diagnosis, pathway biology, and drug repositioning. Initially, microarrays are used to study the bulk transcriptome; but now short-read RNA sequencing (RNA-seq) predominates. Positioned as a superior technology, that makes the discovery of novel transcripts routine, most RNA-seq analyses are in fact modeled on the known transcriptome.

Metal organic framework encapsulated tamavidin-Gluc reporter: application in COVID-19 spike antigen bioluminescent immunoassay.

Enzyme linked immunosorbent assay (ELISA) is one of the most utilized serological methods to diagnose and identify etiologic agents of many infectious diseases and other physiologically important analytes. ELISA can be used either alone or adjunct to other diagnostic methods such as molecular arrays, and other serological techniques. Most ELISA assays utilize reagents that are proteinaceous in nature, which are not very stable and require cold-chain transport systems.

von Willebrand Factor: A Central Regulator of Arteriovenous Fistula Maturation Through Smooth Muscle Cell Proliferation and Outward Remodeling.

Background Arteriovenous fistula (AVF) maturation failure is a main limitation of vascular access. Maturation is determined by the intricate balance between outward remodeling and intimal hyperplasia, whereby endothelial cell dysfunction, platelet aggregation, and vascular smooth muscle cell (VSMC) proliferation play a crucial role. von Willebrand Factor (vWF) is an endothelial cell-derived protein involved in platelet aggregation and VSMC proliferation.

Long-Term Earth-Moon Evolution With High-Level Orbit and Ocean Tide Models.

Tides and Earth-Moon system evolution are coupled over geological time. Tidal energy dissipation on Earth slows rotation rate, increases obliquity, lunar orbit semi-major axis and eccentricity, and decreases lunar inclination. Tidal and core-mantle boundary dissipation within the Moon decrease inclination, eccentricity and semi-major axis.

Preoperative and intraoperative factors predictive of complications and stricture recurrence following multiple urethroplasty techniques.

Objectives: To investigate factors predictive of postoperative recurrence and complications in patients undergoing urethroplasty for stricture repair at a single center.

Patients And Methods: We retrospectively reviewed the records of 108 men who underwent urethroplasty for urethral stricture disease (USD) at a single center from 2016 to 2020. Demographic data, comorbidities, stricture history including etiology and prior treatments, patient-reported symptoms, and outcomes data were collected for analysis.

Vitamin D Modulation of Mitochondrial Oxidative Metabolism and mTOR Enforces Stress Adaptations and Anticancer Responses.

The relationship between the active form of vitamin D (1,25-dihydroxyvitamin D, 1,25(OH)D) and reactive oxygen species (ROS), two integral signaling molecules of the cell, is poorly understood. This is striking, given that both factors are involved in cancer cell regulation and metabolism. Mitochondria (mt) dysfunction is one of the main drivers of cancer, producing more mitochondria, higher cellular energy, and ROS that can enhance oxidative stress and stress tolerance responses.

InterCarb: A Community Effort to Improve Interlaboratory Standardization of the Carbonate Clumped Isotope Thermometer Using Carbonate Standards.

Increased use and improved methodology of carbonate clumped isotope thermometry has greatly enhanced our ability to interrogate a suite of Earth-system processes. However, interlaboratory discrepancies in quantifying carbonate clumped isotope (Δ) measurements persist, and their specific sources remain unclear. To address interlaboratory differences, we first provide consensus values from the clumped isotope community for four carbonate standards relative to heated and equilibrated gases with 1,819 individual analyses from 10 laboratories.

Catamenial haemoptysis in females with cystic fibrosis: a case series with review of management strategies.

Catamenial haemoptysis, the expectoration of blood during menses, has not been extensively reported in the cystic fibrosis (CF) literature. We describe four cases (age range: 25-34 years) of catamenial haemoptysis across four CF centres in the United States. These cases may represent thoracic endometriosis versus hormonal fluctuations in airway inflammation or infection resulting in bronchial artery bleeding.

Estimating Systolic Blood Pressure Intervention Trial Participant Posttrial Survival Using Pooled Epidemiologic Cohort Data.

Background Intensive systolic blood pressure treatment (<120 mm Hg) in SPRINT (Systolic Blood Pressure Intervention Trial) improved survival compared with standard treatment (<140 mm Hg) over a median follow-up of 3.3 years. We projected life expectancy after observed follow-up in SPRINT using SPRINT-eligible participants in the NHLBI-PCS (National Heart, Lung, and Blood Institute Pooled Cohorts Study).

In Situ Estimates of Net Primary Production in the Western North Atlantic With Argo Profiling Floats.

The C incubation method for net primary production (NPP) has limited spatial/temporal resolution, while satellite approaches cannot provide direct information at depth. With chlorophyll-a and backscatter measurements from BGC-Argo floats, we quantified year-round NPP in the western North Atlantic Ocean using both the Carbon-based Productivity Model (CbPM) and Photoacclimation Productivity Model (PPM). Comparison with NPP profiles from C incubation measurements showed advantages and limitations of both models.

Impact of perioperative factors on nadir serum prostate-specific antigen levels after holmium laser enucleation of prostate.

Objective: To investigate the relationship of preoperative prostate size, urinary retention, positive urine culture, and histopathological evidence of prostatitis or incidental prostate cancer on baseline and 3-month nadir prostate-specific antigen (PSA) value after Holmium laser enucleation of prostate (HoLEP).

Patients And Methods: Data from 90 patients who underwent a HoLEP by En-bloc technique were analyzed. PSA values at baseline and at 3-month follow-up, preoperative urinary retention and urine culture status, weight of resected tissue, and histopathological evidence of prostatitis or prostate cancer were recorded.

Multicenter, Double-Blind, Randomized Trial of Emricasan in Hepatitis C-Treated Liver Transplant Recipients With Residual Fibrosis or Cirrhosis.

Despite achieving sustained virologic response (SVR) to hepatitis C virus (HCV) therapy, there remains a post liver transplantation population with advanced fibrosis/cirrhosis. Emricasan is an orally active, pan-caspase inhibitor that suppresses apoptosis and inflammation, potentially decreasing hepatic inflammation and fibrosis. We aimed to determine the safety and efficacy of emricasan (IDN-6556-07) in a double-blind, randomized, placebo-controlled, multicenter study in reducing or preventing the progression of hepatic fibrosis in HCV liver transplant recipients with residual fibrosis or cirrhosis after achieving SVR.

Clouds and Convective Self-Aggregation in a Multimodel Ensemble of Radiative-Convective Equilibrium Simulations.

The Radiative-Convective Equilibrium Model Intercomparison Project (RCEMIP) is an intercomparison of multiple types of numerical models configured in radiative-convective equilibrium (RCE). RCE is an idealization of the tropical atmosphere that has long been used to study basic questions in climate science. Here, we employ RCE to investigate the role that clouds and convective activity play in determining cloud feedbacks, climate sensitivity, the state of convective aggregation, and the equilibrium climate.

Directions for Research on Climate and Conflict.

The potential links between climate and conflict are well studied, yet disagreement about the specific mechanisms and their significance for societies persists. Here, we build on assessment of the relationship between climate and organized armed conflict to define crosscutting priorities for future directions of research. They include (1) deepening insight into climate-conflict linkages and conditions under which they manifest, (2) ambitiously integrating research designs, (3) systematically exploring future risks and response options, responsive to ongoing decision-making, and (4) evaluating the effectiveness of interventions to manage climate-conflict links.

Relationships Among Bone Morphological Parameters and Mechanical Properties of Cadaveric Human Vertebral Cancellous Bone.

Mechanical properties and morphological features of the vertebral cancellous bone are related to resistance to fracture and capability of withstanding surgical treatments. In particular, vertebral strength is related to its elastic properties, whereas the ease of fluid motion, related to the success of incorporation orthopedic materials (eg, bone cement), is regulated by the hydraulic permeability (K). It has been shown that both elastic modulus and permeability of a material are affected by its morphology.

Southern Ocean Biogeochemical Float Deployment Strategy, With Example From the Greenwich Meridian Line (GO-SHIP A12).

Biogeochemical Argo floats, profiling to 2,000-m depth, are being deployed throughout the Southern Ocean by the Southern Ocean Carbon and Climate Observations and Modeling program (SOCCOM). The goal is 200 floats by 2020, to provide the first full set of annual cycles of carbon, oxygen, nitrate, and optical properties across multiple oceanographic regimes. Building from no prior coverage to a sparse array, deployments are based on prior knowledge of water mass properties, mean frontal locations, mean circulation and eddy variability, winds, air-sea heat/freshwater/carbon exchange, prior Argo trajectories, and float simulations in the Southern Ocean State Estimate and Hybrid Coordinate Ocean Model (HYCOM).

Quantifying the Importance of Rapid Adjustments for Global Precipitation Changes.

Different climate drivers influence precipitation in different ways. Here we use radiative kernels to understand the influence of rapid adjustment processes on precipitation in climate models. Rapid adjustments are generally triggered by the initial heating or cooling of the atmosphere from an external climate driver.