Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.

Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the general population. We compare three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores.

Readability Level of Spanish Language Online Health Information: A Systematic Review.

Because there is limited online health information in Spanish and it is critical to raise health literacy among Spanish-speaking people, it is essential to assess the readability level of Spanish material. This systematic review included all articles published up to January 3, 2024, and used the CINAHL, MEDLINE, and PubMed databases. The objective was to include the body of knowledge on published articles on the readability levels of Spanish-language, web-based health information intended for lay audiences.

Primordial aqueous alteration recorded in water-soluble organic molecules from the carbonaceous asteroid (162173) Ryugu.

We report primordial aqueous alteration signatures in water-soluble organic molecules from the carbonaceous asteroid (162173) Ryugu by the Hayabusa2 spacecraft of JAXA. Newly identified low-molecular-weight hydroxy acids (HO-R-COOH) and dicarboxylic acids (HOOC-R-COOH), such as glycolic acid, lactic acid, glyceric acid, oxalic acid, and succinic acid, are predominant in samples from the two touchdown locations at Ryugu. The quantitative and qualitative profiles for the hydrophilic molecules between the two sampling locations shows similar trends within the order of ppb (parts per billion) to ppm (parts per million).

Health and Racial Disparities: Importance of Accurate and Reliable Ethnicity, Race, and Language Data.

Accurate demographic data are essential to identify and monitor differences, trends, and changes in diabetes-related conditions between Hispanics and non-Hispanic Blacks (NHBs). It also provides pertinent information to reduce health and racial disparities among English- and Spanish-speakers. The study's design was a quantitative cross-sectional one.

An interactive atlas of three-dimensional syndromic facial morphology.

Craniofacial phenotyping is critical for both syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized genetic syndromes. Clinical reports, textbooks, and available software tools typically provide two-dimensional, static images and illustrations of the characteristic phenotypes of genetic syndromes. In this work, we provide an interactive web application that provides three-dimensional, dynamic visualizations for the characteristic craniofacial effects of 95 syndromes.

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.

Human craniofacial shape is highly variable yet highly heritable with genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the normal population. We compared three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores.

National Institutes of Health R-series Grants portfolio of racism and healthcare, 2017-2022.

Background: Any form of racism in healthcare is an unacceptable barrier to receiving equitable and quality care, further contributing to health disparities among populations. For these reasons, it is critical to have a better understanding on the amount of research and scientific advances of funded projects aimed at racism in healthcare. An examination of the distribution of R-series funded research by the National Institutes of Health (NIH) on racism in healthcare during a 5-year fiscal year (FY) period (2017-2022) was conducted by the study team.

Inflation-adjusted medicare physician reimbursement for adult spinal deformity surgery substantially declined from 2002 to 2020.

Purpose: Physician fees for orthopaedic surgeons by the Centers for Medicare and Medicaid Services (CMS) are increasingly scrutinized. The present retrospective review aims to assess whether adult spinal deformity (ASD) surgeries are properly valued for Medicare reimbursement.

Methods: Current Procedural Terminology (CPT) codes related to posterior fusion of spinal deformity of ≤ 6, 7-12, and ≥ 13 vertebral levels, as well as additional arthrodesis and osteotomy levels, were assessed for (1) Compound annual growth rate (CAGR) from 2002 to 2020, calculated using physician fee data from the CMS Physician Fee Schedule Look-Up Tool; and (2) work relative value units (RVUs) per operative minute, using data from the National Surgical Quality Improvement Program.

What Are the English to Spanish Translation Methods Used on Written Health-Related Information?

This systematic review was conducted to examine methods and tools used to translate written health-related information from English to Spanish. The design of this study was a systematic review. This review search was of all published articles up to July 2022.

Chemical evolution of primordial salts and organic sulfur molecules in the asteroid 162173 Ryugu.

Samples from the carbonaceous asteroid (162173) Ryugu provide information on the chemical evolution of organic molecules in the early solar system. Here we show the element partitioning of the major component ions by sequential extractions of salts, carbonates, and phyllosilicate-bearing fractions to reveal primordial brine composition of the primitive asteroid. Sodium is the dominant electrolyte of the salt fraction extract.

Modeling the Impact of a Highly Potent Plasmodium falciparum Transmission-Blocking Monoclonal Antibody in Areas of Seasonal Malaria Transmission.

Transmission-blocking interventions can play an important role in combating malaria worldwide. Recently, a highly potent Plasmodium falciparum transmission-blocking monoclonal antibody (TB31F) was demonstrated to be safe and efficacious in malaria-naive volunteers. Here we predict the potential public health impact of large-scale implementation of TB31F alongside existing interventions.

Soluble organic molecules in samples of the carbonaceous asteroid (162173) Ryugu.

The Hayabusa2 spacecraft collected samples from the surface of the carbonaceous near-Earth asteroid (162173) Ryugu and brought them to Earth. The samples were expected to contain organic molecules, which record processes that occurred in the early Solar System. We analyzed organic molecules extracted from the Ryugu surface samples.

Comparing 2D and 3D representations for face-based genetic syndrome diagnosis.

Human genetic syndromes are often challenging to diagnose clinically. Facial phenotype is a key diagnostic indicator for hundreds of genetic syndromes and computer-assisted facial phenotyping is a promising approach to assist diagnosis. Most previous approaches to automated face-based syndrome diagnosis have analyzed different datasets of either 2D images or surface mesh-based 3D facial representations, making direct comparisons of performance challenging.

COVID-19 survey among NYC non-Hispanic Black and Hispanic/Latino adults with diabetes.

Objectives: To better understand the knowledge, practice, importance, awareness, usefulness, and confidence of non-Hispanic Black and English- and Spanish-speaking Hispanic/Latino adults with diabetes.

Design: A descriptive cross-sectional survey study design was used and descriptive statistics was conducted.

Sample: Non-Hispanic Black and Hispanic/Latino adults with diabetes were recruited from three New York City public hospitals.

COVID-19 Response Roles among CDC International Public Health Emergency Management Fellowship Graduates.

Since 2013, the US Centers for Disease Control and Prevention has offered the Public Health Emergency Management Fellowship to health professionals from around the world. The goal of this program is to build an international workforce to establish public health emergency management programs and operations centers in participating countries. In March 2021, all 141 graduates of the fellowship program were invited to complete a web survey designed to examine their job roles and functions, assess their contributions to their country's COVID-19 response, and identify needs for technical assistance to strengthen national preparedness and response systems.

Detecting 3D syndromic faces as outliers using unsupervised normalizing flow models.

Many genetic syndromes are associated with distinctive facial features. Several computer-assisted methods have been proposed that make use of facial features for syndrome diagnosis. Training supervised classifiers, the most common approach for this purpose, requires large, comprehensive, and difficult to collect databases of syndromic facial images.

Controlled Electromagnetic Field Based Safety System for Handheld Circular Saw.

This paper presents the design of a safety system based on controlled electromagnetic field (CEMF) sensing technology to prevent accidents caused by power tools, especially related to handheld circular saws. The safety system creates an invisible protection bubble of electromagnetic field around the cutting edge. The system can provide early warning or critical warning when a person penetrates the safety bubble.

Deuterium Isotope Fractionation of Polycyclic Aromatic Hydrocarbons in Meteorites as an Indicator of Interstellar/Protosolar Processing History.

The stable isotope composition of soluble and insoluble organic compounds in carbonaceous chondrites can be used to determine the provenance of organic molecules in space. Deuterium enrichment in meteoritic organics could be a residual signal of synthetic reactions occurring in the cold interstellar medium or an indicator of hydrothermal parent-body reactions. δD values have been measured in grains and bulk samples for a wide range of meteorites; however, these reservoirs are highly variable and may have experienced fractionation during thermal and/or aqueous alteration.

Burden of malaria in pregnancy among adolescent girls compared to adult women in 5 sub-Saharan African countries: A secondary individual participant data meta-analysis of 2 clinical trials.

Background: Malaria is among the top causes of death in adolescent girls (10 to 19 years) globally. Adolescent motherhood is associated with increased risk of adverse maternal and neonatal outcomes. The interaction of malaria, adolescence, and pregnancy is especially relevant in malaria endemic areas, where rates of adolescent pregnancy are high.

Safety, tolerability, and Plasmodium falciparum transmission-reducing activity of monoclonal antibody TB31F: a single-centre, open-label, first-in-human, dose-escalation, phase 1 trial in healthy malaria-naive adults.

Background: Malaria elimination requires interruption of the highly efficient transmission of Plasmodium parasites by mosquitoes. TB31F is a humanised monoclonal antibody that binds the gamete surface protein Pfs48/45 and inhibits fertilisation, thereby preventing further parasite development in the mosquito midgut and onward transmission. We aimed to evaluate the safety and efficacy of TB31F in malaria-naive participants.

Inferior Survival Is Associated With Socioeconomic Deprivation in Hepatocellular Carcinoma.

Introduction: Pernicious health disparities have been reported in patients with hepatocellular carcinoma (HCC). Few tools exist to screen patients in order to facilitate educational and outreach initiatives. We hypothesize that neighborhood-level socioeconomic metrics such as the Area Deprivation Index (ADI) can predict inferior outcomes in patients with early-stage HCC.

A Closer Look at Non-random Patterns Within Chemistry Space for a Smaller, Earlier Amino Acid Alphabet.

Recent findings, in vitro and in silico, are strengthening the idea of a simpler, earlier stage of genetically encoded proteins which used amino acids produced by prebiotic chemistry. These findings motivate a re-examination of prior work which has identified unusual properties of the set of twenty amino acids found within the full genetic code, while leaving it unclear whether similar patterns also characterize the subset of prebiotically plausible amino acids. We have suggested previously that this ambiguity may result from the low number of amino acids recognized by the definition of prebiotic plausibility used for the analysis.