Lessons Learned from the Point-of-Care Use of a Facial Analysis Technology

Purpose We aimed to evaluate the utility of facial analysis technology for genetic diagnoses in a typical pediatric genetic clinic. Methods A retrospective review identified children (aged <18 years) who had not previously received a definitive genetic diagnosis and underwent a comprehensive genetic evaluation. Their photographs and relevant clinical non-facial features were uploaded to the CLINIC application of the Face2Gene web interface, and the resulting analysis was accessed and correlated to the molecular diagnosis. Results Of the 23 children included, the overall diagnostic yield in this study was 60.9% (14/23). In total, 64.3% of patients had the correct condition suggested in the top 10 differential diagnoses. The gestalt similarity was only 55.6%, but the phenotypic features added by the clinician showed a similarity of more than the medium level in all patients. Conclusion Our data underscore the usefulness of facial analysis technology as an auxiliary point-of-care tool in pediatric genetic clinics, and we also present some considerations to increase accuracy

A protein domain interaction interface database: InterPare.

BACKGROUND: Most proteins function by interacting with other molecules. Their interaction interfaces are highly conserved throughout evolution to avoid undesirable interactions that lead to fatal disorders in cells. Rational drug discovery includes computational methods to identify the interaction sites of lead compounds to the target molecules. Identifying and classifying protein interaction interfaces on a large scale can help researchers discover drug targets more efficiently. DESCRIPTION: We introduce a large-scale protein domain interaction interface database called InterPare http://interpare.net. It contains both inter-chain (between chains) interfaces and intra-chain (within chain) interfaces. InterPare uses three methods to detect interfaces: 1) the geometric distance method for checking the distance between atoms that belong to different domains, 2) Accessible Surface Area (ASA), a method for detecting the buried region of a protein that is detached from a solvent when forming multimers or complexes, and 3) the Voronoi diagram, a computational geometry method that uses a mathematical definition of interface regions. InterPare includes visualization tools to display protein interior, surface, and interaction interfaces. It also provides statistics such as the amino acid propensities of queried protein according to its interior, surface, and interface region. The atom coordinates that belong to interface, surface, and interior regions can be downloaded from the website. CONCLUSION: InterPare is an open and public database server for protein interaction interface information. It contains the large-scale interface data for proteins whose 3D-structures are known. As of November 2004, there were 10,583 (Geometric distance), 10,431 (ASA), and 11,010 (Voronoi diagram) entries in the Protein Data Bank (PDB) containing interfaces, according to the above three methods. In the case of the geometric distance method, there are 31,620 inter-chain domain-domain interaction interfaces and 12,758 intra-chain domain-domain interfaces

Epidemiologic trends of patients who visited nationwide emergency departments: a report from the National Emergency Department Information System (NEDIS) of Korea, 2018–2022

Objective This study analyzed trends in emergency department (ED) visits in Korea using the National Emergency Department Information System (NEDIS) data from 2018 to 2022. Methods This was a retrospective observational study using data from the NEDIS database from 2018 to 2022. Age- and sex-standardized ED visits per 100,000 population, as well as age- and sex-standardized rates for mortality, admission, and transfer, were calculated. Results The standardized ED visits per 100,000 population was approximately 20,000 from 2018 to 2019 and decreased to about 18,000 in 2022. The standardized mortality rate ranged from 1.4% to 1.7%. The admission rate (18.4%–19.4%) and the transfer rates (1.6%–1.8%) were similar during the study period. Approximately 5.5% of patients were triaged as Korean Triage and Acuity Scale score 1 or 2. About 91% of patients visited the ED directly and 21.7% of patients visited the ED with an ambulance. The ED length of stay was less than 6 hours in 90.3% of patients and the ED mortality rate was 0.6%. Acute gastroenteritis was the most common diagnosis. Respiratory virus symptoms, such as fever and sore throat, were also common chief complaints. Conclusion ED visits decreased during the 5-year period, while admission, transfer, and death rates remained relatively stable

Hyperpolarized [1-13C] pyruvate MR spectroscopy detect altered glycolysis in the brain of a cognitively impaired mouse model fed high-fat diet.

Higher dietary intakes of saturated fatty acid increase the risk of developing Alzheimer's disease and dementia, and even in people without diabetes higher glucose levels may be a risk factor for dementia. The mechanisms causing neuronal dysfunction and dementia by consuming high-fat diet degrading the integrity of the blood-brain barrier (BBB) has been suggested but are not yet fully understood, and metabolic state of the brain by this type of insult is still veiled. The objective of this study was to investigate the effect of high-fat diet on the brain metabolism by a multimodal imaging method using the hyperpolarizedcarbon 13 (13C)-pyruvate magnetic resonance (MR) spectroscopy and dynamic contrast-enhanced MR imaging in conjunction with the biochemical assay and the behavior test in a mouse model fed high-fat diet (HFD). In mice were fed 60% HFD for 6 months, hyperpolarized [1-13C] pyruvate MR spectroscopy showed decreased perfusion (p < 0.01) and increased conversion from pyruvate to lactate (p < 0.001) in the brain. The hippocampus and striatum showed the highest conversion ratio. The functional integrity of the blood-brain barrier tested by dynamic contrast-enhanced MR imaging showed no difference to the control. Lactate was increased in the cortex (p < 0.01) and striatum (p < 0.05), while PDH activity was decreased in the cortex (p < 0.01) and striatum (p < 0.001) and the phosphorylated PDH was increased in the striatum (p < 0.05). Mice fed HFD showed less efficiency in learning memory compared with control (p < 0.05). To determine whether hyperpolarized 13C-pyruvate magnetic resonance (MR) spectroscopy could detect a much earier event in the brain. Mice fed HFD for 3 months did not show a detectable cognitive decline in water maze based learning memory. Hyperpolarized [1-13C] pyruvate MR spectroscopy showed increased lactate conversion (P < .001), but no difference in cerebral perfusion. These results suggest that the increased hyperpolarized [1-13C] lactate signal in the brain of HFD-fed mice represent that altered metabolic alteration toward to glycolysis and hypoperfusion by the long-term metabolic stress by HFD further promote to glycolysis. The hyperpolarized [1-13C] pyruvate MR spectroscopy can be used to monitor the brain metabolism and will provide information helpful to understand the disease process

Whole transcriptome analyses of six thoroughbred horses before and after exercise using RNA-Seq

Background: Thoroughbred horses are the most expensive domestic animals, and their running ability and knowledge about their muscle-related diseases are important in animal genetics. While the horse reference genome is available, there has been no large-scale functional annotation of the genome using expressed genes derived from transcriptomes. Results: We present a large-scale analysis of whole transcriptome data. We sequenced the whole mRNA from the blood and muscle tissues of six thoroughbred horses before and after exercise. By comparing current genome annotations, we identified 32,361 unigene clusters spanning 51.83 Mb that contained 11,933 (36.87%) annotated genes. More than 60% (20,428) of the unigene clusters did not match any current equine gene model. We also identified 189,973 single nucleotide variations (SNVs) from the sequences aligned against the horse reference genome. Most SNVs (171,558 SNVs; 90.31%) were novel when compared with over 1.1 million equine SNPs from two SNP databases. Using differential expression analysis, we further identified a number of exercise-regulated genes: 62 up-regulated and 80 down-regulated genes in the blood, and 878 up-regulated and 285 down-regulated genes in the muscle. Six of 28 previously-known exercise-related genes were over-expressed in the muscle after exercise. Among the differentially expressed genes, there were 91 transcription factor-encoding genes, which included 56 functionally unknown transcription factor candidates that are probably associated with an early regulatory exercise mechanism. In addition, we found interesting RNA expression patterns where different alternative splicing forms of the same gene showed reversed expressions before and after exercising. Conclusion: The first sequencing-based horse transcriptome data, extensive analyses results, deferentially expressed genes before and after exercise, and candidate genes that are related to the exercise are provided in this study.close151

Self-Humidifying Membrane for High-Performance Fuel Cells Operating at Harsh Conditions: Heterojunction of Proton and Anion Exchange Membranes Composed of Acceptor-Doped SnP2O7 Composites

Here we suggest a simple and novel method for the preparation of a high-performance self-humidifying fuel cell membrane operating at high temperature (&gt;100 °C) and low humidity conditions (&lt;30% RH). A self-humidifying membrane was effectively prepared by laminating together proton and anion exchange membranes composed of acceptor-doped SnP2O7 composites, Sn0.9In0.1H0.1P2O7/Sn0.92Sb0.08(OH)0.08P2O7. At the operating temperature of 100 °C, the electrochemical performances of the membrane electrode assembly (MEA) with this heterojunction membrane at 3.5% RH were better than or comparable to those of each MEA with only the proton or anion exchange membranes at 50% RH or higher

Feature Selection Method Using Multi-Agent Reinforcement Learning Based on Guide Agents

In this study, we propose a method to automatically find features from a dataset that are effective for classification or prediction, using a new method called multi-agent reinforcement learning and a guide agent. Each feature of the dataset has one of the main and guide agents, and these agents decide whether to select a feature. Main agents select the optimal features, and guide agents present the criteria for judging the main agents’ actions. After obtaining the main and guide rewards for the features selected by the agents, the main agent that behaves differently from the guide agent updates their Q-values by calculating the learning reward delivered to the main agents. The behavior comparison helps the main agent decide whether its own behavior is correct, without using other algorithms. After performing this process for each episode, the features are finally selected. The feature selection method proposed in this study uses multiple agents, reducing the number of actions each agent can perform and finding optimal features effectively and quickly. Finally, comparative experimental results on multiple datasets show that the proposed method can select effective features for classification and increase classification accuracy

Gender effect in survival after out-of-hospital cardiac arrest: A nationwide, population-based, case-control propensity score matched study based Korean national cardiac arrest registry.

ObjectiveThis study aimed to describe the relationship between sex and survival of patients with out-of-hospital cardiac arrest (OHCA) and further investigate the potential impact of female reproductive hormones on survival outcomes, by stratifying the patients into two age groups.MethodsThis retrospective, national population-based observational, case-control study, included Korean OHCA data from January 1, 2009, to December 31, 2016. We used multiple logistic regression with propensity score-matched data. The primary outcome was survival-to-discharge.ResultsOf the 94,160 patients with OHCA included, 34.2% were women. Before propensity score matching (PSM), the survival-to-discharge rate was 5.2% for females and 9.1% for males, in the entire group (OR 0.556, 95% CI [-0.526-0.588], PConclusionsFemales of reproductive age had a better chance of survival when matched for confounding factors. Further studies using sex hormones are needed to improve the survival rate of patients with OHCA

Bandgap Tailored Nonfullerene Acceptors for Low-Energy-Loss Near-Infrared Organic Photovoltaics

A series of A-pi-D-pi-A-type nonfullerene acceptors (NFAs) was designed and synthesized with the goal of optimizing light absorption and energy losses in near-infrared (NIR) organic solar cells (OSCs) principally through the use of side-chain engineering. Specific molecules include p-O1, o-IO1, p-IO2, and o-IO2 with optical bandgaps of 1.34, 1.28, 1.24, and 1.20 eV, respectively. Manipulating the optoelectronic properties and intermolecular organization by substituting bulky phenylhexyl (p-) for linear octyl chains (o-) and replacing bisalkoxy (-O2) with alkyl-alkoxy combination (-O1) allows one to target energy bandgaps and achieve a favorable bulk heterojunction morphology when in the presence of the donor polymer PTB7-Th. Solar cells based on o-IO1 and PTB7-Th exhibit an optimal power conversion efficiency of 13.1%. The excellent photovoltaic performance obtained with the o-IO1 acceptor can be attributed to a short-circuit current of 26.3 mA cm(-2) and energy losses on the order of 0.54 eV. These results further highlight how side-chain engineering is a straightforward strategy to tune the molecular design of n-type molecular semiconductors, particularly in the context of NIR high-efficiency organic photovoltaics