bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Qualitative Experiences of Otolaryngologists with Genetic Services in the Evaluation of Pediatric Hearing Loss
Authors: Heyward Aaliyah , Dedhia Kavita , Tey Ching Siong , Lichten Lauren , Howell Julie , Kavalieratos Dio , Hagerty Kelsi , Govil Nandini 
Published: July 2022

Abstract
Genetic testing has allowed otolaryngologists to diagnose 40-65% of pediatric sensorineural hearing loss (SNHL) patients with a genetic disorder. Previous research focused on the utility of genetic testing in the workup of pediatric SNHL and otolaryngologists’ general understanding of genetics. This qualitative study explores the factors that influence otolaryngologists in the United States to initiate conversations about genetic testing with families of patients with hearing loss, describes common practices among otolaryngologists for accessing genetic services, identifies barriers to accessing genetic services, and proposes potential solutions for overcoming these barriers. Eleven (N=11) semi-structured interviews with otolaryngologists were conducted. Most participants currently in practice in the southern region, in an urban setting, at an academic practice, and have completed a pediatric otolaryngology fellowship. As part of their regular workup for pediatric SNHL, participants either offered genetic testing or a referral for a genetics evaluation. Insurance was one of the main barriers to testing, and increased genetics provider accessibility was the most frequently cited solution to increase accessibility of genetic services such as evaluation, counseling, and testing. Difficulty acquiring insurance coverage and unfamiliarity with the genetic testing process were the most common reasons otolaryngologists preferred to refer patients to genetics clinics for genetic testing. Multidisciplinary hearing loss clinics may increase the overall accessibility of genetic services. Otolaryngologists recognize the importance and utility of genetic testing; however, a lack of genetic specific skills, knowledge, and resources might make it difficult for them to facilitate testing.
Neuronal growth on high-aspect-ratio diamond nanopillar arrays for biosensing applications
Authors: Losero Elena , Jagannath Somanath , Pezzoli Maurizio , Lashuel Hilal A. , Galland Christophe , Quack Niels 
Published: July 2022

Abstract
Monitoring neuronal activity with simultaneously high spatial and temporal resolution in living cell cultures is crucial to advance understanding of the development and functioning of our brain, and to gain further insights in the origin of brain disorders. While it has been demonstrated that the quantum sensing capabilities of nitrogen-vacancy (NV) centers in diamond allow real time detection of action potentials from large neurons in marine invertebrates, quantum monitoring of mammalian neurons (presenting much smaller dimensions and thus producing much lower signal and requiring higher spatial resolution) has hitherto remained elusive. In this context, diamond nanostructuring can offer the opportunity to boost the diamond platform sensitivity to the required level. However, a comprehensive analysis of the impact of a nanostructured diamond surface on the neuronal viability and growth was lacking. Here, we pattern a single crystal diamond surface with large-scale nanopillar arrays and we successfully demonstrate growth of a network of living and functional primary mouse hippocampal neurons on it. Our study on geometrical parameters reveals preferential growth along the nanopillar grid axes with excellent physical contact between cell membrane and nanopillar apex. Our results suggest that neuron growth can be tailored on
diamond nanopillars to realize a nanophotonic quantum sensing platform for wide-field and label-free neuronal activity recording with sub-cellular resolution.
Validation of a metabolomics model to screen for a range of anabolic doping agents in horses.
Authors: Cloteau Chloé , Dervilly Gaud , Loup Benoit , Kaabia Zied , Delcourt Vivian , Bagilet Florian , Groseille Guillaume , Dauriac Karine , Fisher Sabrina , Popot Marie-Agnès , Garcia Patrice , Bizec Bruno Le , Bailly-Chouriberry Ludovic 
Published: July 2022

Abstract
Despite their ban, Anabolic Androgenic Steroids (AAS) are considered as the most important threat for equine doping purposes. In the context of controlling such practices in horse racing, metabolomics has emerged as a promising alternative strategy to study the effect of a substance on metabolism and to discover new relevant biomarkers of effect. Based on the monitoring of 4 metabolomics derived candidate biomarkers in urine, a prediction model to screen for testosterone esters abuse was previously developed. The present work now focuses on assessing the robustness of the associated method and define its scope of application. Several hundred urine samples were selected from 16 different horses of ethically approved animal experiments involving various doping agents’ applications (AAS, SARMS, β-agonists, SAID, NSAID) (n = 349). In addition, 342 urine samples from untreated animals of general equine populations were included in the study. Samples were characterized with the previously described LC-HRMS/MS developed method, with the objective of assessing both its biological and analytical robustness’s. The study concluded that the measurement of the 4 biomarkers involved in the model was fit for purpose. Further, the classification model confirmed its effectiveness in screening for testosterone esters use; and it demonstrated its ability to screen for the administration of other anabolic agents, allowing the development of a global screening tool dedicated to this class of substances. Finally, the results were compared to a direct screening method targeting anabolic agent’s residues, demonstrating complementarity performances of traditional and omics approaches in the screening of anabolic agents in horses.
Genetic Ancestry Inference: from AIMS to WGS application and challenges in admixed population
Authors: Escher Luciana M , Naslavsky Michel S , Scliar Marília O , Duarte Yeda A O , Zatz Mayana , Nunes Kelly , Oliveira Silviene F 
Published: July 2022

Abstract
Increasingly, the inference of genetic ancestry plays a prominent role in clinical, population and forensic genetics studies. Over the last few decades, several genotyping strategies and analytical methodologies have been developed in order to assign individuals to specific biogeographic regions. However, despite all these efforts, the ancestry inference in populations with a recent history of admixture, such as those in America, is still a challenge. In admixed populations, proportion and components of genetic ancestry vary at different levels: (i) between populations; (ii) between individuals of the same population; (iii) throughout the individual's genome. In the present study we compared and evaluated different sets of markers, from those with small numbers of ancestry informative markers panels (AIMs), to high-density SNPs (HDSNP) and whole-genome-sequence (WGS) data. To this end, we evaluated 1,675 admixed samples from America, using a tetrahybrid admixture model (Native American, European, African and East Asian). Analyses show greater variation in the correlation coefficient of ancestry components within and between admixed populations, especially for minority ancestral components. We also observed, the higher the number of markers in the AIMs panel, the higher the correlation with HDSNP and WGS. In addition, the greater the number of markers, the more robust was the tetrahybrid admixture model.
Incidence and Pre/Post-Treatment Risk Factors of Glaucoma in Vogt-Koyanagi-Harada Disease
Authors: Yoshitomi Suzu , Harada Yosuke , Yuasa Yuki , Hiyama Tomona , Hirooka Kazuyuki , Kiuchi Yoshiaki 
Published: July 2022

Abstract
Purpose
To investigate the incidence and pre/post-treatment risk factors of glaucoma in patients with Vogt-Koyanagi-Harada (VKH) disease.
Methods
Data regarding secondary glaucoma were collected from the medical records of patients with VKH disease who were followed up at the uveitis service at Hiroshima University for more than 6 months. We examined the incidence of glaucoma and pre/post-treatment risk factors for glaucoma in patients with VKH disease.
Results
Forty-nine patients with VKH disease were included in this study (31 women and 18 men). The mean age at onset was 50.6 ± 15.2 years (range, 26–85 years). Fifteen patients developed secondary glaucoma during follow-up. The disc swelling type of VKH disease in the early stage, worse final BCVA, cataract development, and subretinal fibrosis were factors associated with glaucoma development.
Conclusion
Secondary glaucoma occurred in more than 30% of patients with VKH disease. The factors associated with incidence of glaucoma may reflect an association with prolonged ocular inflammation.
Impact of anti-thymocyte globulin on survival outcomes in female-to-male allogeneic hematopoietic stem cell transplantation
Authors: Tamaki Masaharu , Akahoshi Yu , Ashizawa Masahiro , Misaki Yukiko , Koi Satoshi , Kim Sung-Won , Ozawa Yukiyasu , Fujiwara Shin-ichiro , Kako Shinichi , Matsuoka Ken-ichi , Sawa Masashi , Katayama Yuta , Onizuka Makoto , Kanda Yoshinobu , Fukuda Takahiro , Atsuta Yoshiko , Yakushijin Kimikazu , Nakasone Hideki 
Published: July 2022

Abstract
Allogeneic hematopoietic cell transplantation between female donors and male recipients (female-to-male allo-HCT) is a well-established risk factor for inferior survival outcomes due to a higher incidence of graft-versus-host disease (GVHD). However, a clinical significance of anti-thymocyte globulin (ATG) in the female-to-male allo-HCT has not been elucidated. In this study, we retrospectively evaluated male patients who underwent allo-HCT between 2012 and 2019 in Japan. In the female-to-male allo-HCT cohort (n = 828), the use of ATG was not associated with a decreased risk of GVHD (HR of acute GVHD 0.691 [95% CI: 0.461 – 1.04], P = 0.074; HR of chronic GVHD 1.06 [95% CI: 0.738 – 1.52], P = 0.76), but was associated with favorable overall survival (OS) and a decreased risk of non-relapse mortality (NRM) (HR of OS 0.603 [95% CI: 0.400 – 0.909], P = 0.016; HR of NRM 0.506 [95% CI: 0.300 – 0.856], P = 0.011). The use of ATG in female-to-male allo-HCT resulted in survival outcomes that were almost equivalent to those in the male-to-male allo-HCT group. Therefore, GVHD prophylaxis with ATG might overcome the inferiority of survival outcomes in female-to-male allo-HCT.
Comparing the evolutionary dynamics of predominant SARS-CoV-2 virus lineages co-circulating in Mexico
Authors: Castelán-Sánchez Hugo , Delaye Luis , Inward Rhys , Dellicour Simon , Gutierrez Bernardo , Vina Natalia Martinez de la , Pybus Oliver , de Anda-Jáuregui Guillermo , Guzmán Plinio , Flores-Garrido Marisol , Fontanelli Óscar , Hernández-Rosales Maribel , Meneses Amilcar , Herrera-Estrella Alfredo , Olmedo-Alvarez Gabriela , Boukadida Celia , Sanchez-Flores Alejandro , Muñoz-Medina José Esteban , Comas-García Andreu , Gómez-Gil Bruno , Zárate Selene , Taboada Blanca , López Susana , Arias Carlos , Kraemer Moritz , Lazcano Antonio , Escalera-Zamudio Marina 
Published: July 2022

Abstract
Up to November 2021, over 200 different SARS-CoV-2 lineages circulated in Mexico. To investigate lineage replacement dynamics, we applied a phylodynamic approach to explore the evolutionary trajectories of five dominant lineages that circulated during the first year of the local epidemic. For most lineages, peaks in sampling frequencies coincided with different epidemiological waves of infection in the country. Lineages B.1.1.222 and B.1.1.519 showed comparable dynamics, represented by clades likely originating in Mexico and persisting for over a year. Lineages B.1.1.7, P.1 and B.1.617.2 also displayed similar dynamics, characterized by multiple introduction events leading to a few successful extended local transmission chains that persisted for several months. We further explored viral movements across the country, applied within the largest clades identified (belonging to lineage B.1.617.2). Many clades were located within the south region of the country, suggesting that this area played a key role in the spread of SARS-CoV-2 in Mexico.
Expression of PD-L1 through evolution phase from pre-invasive to invasive lung adenocarcinoma
Authors: Zhou Jiebai , Lin Huo , Ni Zheng , Luo Rongkui , Yang Dawei , Feng Mingxiang , Zhang Yong 
Published: July 2022

Abstract
Background
This study evaluated programmed cell death-ligand 1 (PD-L1) expression from pre-invasive adenocarcinoma to invasive lung adenocarcinoma, aims to investigate the potential association of PD-L1 pathway with lung adenocarcinoma early evolution.
Methods
We evaluated PD-L1 expression in 1,123 resected lung specimens of adenocarcinoma in situ (AIS), minimally invasive adenocarcinoma (MIA) and invasive adenocarcinoma (IAC) of stage IA1-IA3. PD-L1 expression was defined based on the proportion of stained tumor cells using the tumor proportion score (TPS): <1% (negative), ≥ 1% (positive) and ≥ 50% (strongly positive). Correlations between PD-L1 expression and T stage, pathological subtype, adenocarcinoma grade, spread through air space (STAS) were analyzed.
Results
There was almost no PD-L1 expression in AIS or MIA. However, PD-L1 expression was correlated with invasiveness of lung adenocarcinoma. The percentages of PD-L1 positive in IA1-IA3 were 7.22%, 11.29%, and 14.20%, respectively. The strongly positive rates of PD-L1 were 0.38%, 1.64%, and 3.70% in IA1-IA3, respectively. PD-L1 expression and positive rate were also associated with poor pathological subtype and poor biological behavior, such as adenocarcinoma Grade 3, micropapillary or solid dominant subtype and spread through air space (STAS).
Conclusions
PD-L1 expression was positively correlated with the emergence of invasiveness and poor pathological subtype and biological behavior of early-stage lung adenocarcinoma. PD-L1 pathway may be involved in the early evolution of lung adenocarcinoma from AIS to IAC.
A tuning-free wildfire detection algorithm reveals the impact of both Chornobyl wildfires and the Russian invasion of Ukraine in 2022
Authors: Hu Jun , Igarashi Yasunori , Kotsuki Shunji , Yang Ziping , Talerko Mykola , Landin Volodymyr , Tischenko Olga , Zheleznyak Mark , Protsak Valentyn , Kirieiev Serhii 
Published: July 2022

Abstract
The 2020 wildfires in the Chornobyl Exclusion Zone (ChEZ) have caused widespread public concern about the potential risk of radiation exposure from radionuclides resuspended and redistributed due to the fires. In this study, we developed a tuning-free wildfire detection algorithm (TuFda) to perform rapid detection of burned areas for the purpose of immediate post-fire assessment. We applied TuFda to detect wildfires in the ChEZ during the spring of 2022. The size of the burned areas in February and March was estimated as 0.4 km2 and 70 km2, respectively. We also applied the algorithm to other areas outside the boundaries of the ChEZ and detected land surface changes totaling 553 km2 in northern Ukraine between February and March 2022. These changes may have occurred as a result of the Russian invasion. This study is the first to identify areas in northern Ukraine impacted by both wildfires and the Russian invasion of Ukraine in 2022. Our algorithm facilitates the rapid provision of accurate information on significant land surface changes whether caused by wildfires, military action, or any other factor.
Multicompartment body composition analysis in older adults: a cross-sectional study
Authors: Rossini-Venturini Ana Claudia , Veras Lucas , Abdalla Pedro Pugliesi , Santos André Pereira , Junior Márcio Fernando Tasinafo , Silva Leonardo Santos Lopes , Alves Thiago Cândido , Ferrioli Eduardo , Romo-Perez Vicente , Garcia-Soidan Jose Luis , Mota Jorge , Machado Dalmo Roberto Lopes 
Published: July 2022

Abstract
Background: During aging, changes occur in the proportions of muscle, fat, and bone. The body composition (BC) alterations have a great impact on health, quality of life, and functional capacity. Several equations to predict BC using anthropometric measurements have been developed from a bi-compartmental (2-C) approach that determines only fat mass (FM) and fat-free mass (FFM). However, these models have several limitations, when considering constant density, progressive bone demineralization, and changes in the hydration of the FFM, as typical changes during senescence. Thus, the main purpose of this study was to propose and validate a new multi-compartmental anthropometric model to predict fat, bone, and musculature components in older adults of both sexes.Methods: This cross-sectional study included 100 older adults of both sexes. To determine the dependent variables (fat mass [FM], bone mineral content [BMC], and appendicular lean soft tissue [ALST]) whole total and regional DXA body scans were performed. Twenty-nine anthropometric measures and sex were appointed as independent variables. Models were developed through multivariate linear regression. Finally, the predicted residual error sum of squares (PRESS) statistic was used to measure the effectiveness of the predicted value for each dependent variable.Results: An equation was developed to simultaneously predict FM, BMC, and ALST from only four variables: weight, half arm span (HAS), triceps skinfold (TriSK), and sex. This model showed high coefficients of determination and low estimation errors (FM: R2adj: 0.83 and SEE: 3.16; BMC: R2adj: 0.61 and SEE: 0.30; ALST: R2adj: 0.85 and SEE: 1.65). Conclusion: The equations provide a reliable, practical, and low-cost instrument to monitor changes in body components during the aging process. The internal cross-validation method PRESS presented sufficient reliability in the model as an inexpensive alternative for clinical field use.
Genomic selection for genotype performance and stability using information on multiple traits and multiple environments
Authors: Bančič Jon , Ovenden Ben , Gorjanc Gregor , Tolhurst Daniel 
Published: July 2022

Abstract
This paper develops a single-stage genomic selection (GS) approach which incorporates information on multiple traits and multiple environments within a partially separable factor analytic framework. The factor analytic linear mixed model is an effective method for analysing multi-environment trial (MET) datasets, but is yet to be extended to GS for multiple traits and multiple environments. The advantage of incorporating all three sources of information is that breeders can utilise genotype by environment by trait interaction (GETI) to obtain more accurate predictions across correlated traits and environments. The partially separable factor analytic linear mixed model (SFA-LMM) developed in this paper is based on a three-way separable structure, with a factor analytic model for traits, a factor analytic model for environments and a genomic relationship matrix for genotypes. This structure is then modified to enable a different genotype by environment interaction (GEI) pattern for each trait, and a different genotype by trait interaction (GTI) pattern for each environment. The SFA-LMM is demonstrated on a multi-trait MET dataset from The Australian Rice Breeding Program. Selection within the rice breeding program is demonstrated using a selection index based on measures of genotype performance and stability. This approach represents an important continuation in the advancement of plant breeding analyses, particularly with the advent of high-throughput phenotypic datasets involving a very large number of traits and/or environments.
Implication of changes in xanthine oxidase activity following hemodialysis
Authors: Fujioka Hayato , Koike Tsutomu , Imamura Teruhiko , Kakeshita Kota , Yamazaki Hidenori , Kinugawa Koichiro 
Published: July 2022

Abstract
Background:Xanthine oxidase activity has a key role in the development of oxidative stress and progression of cardiovascular diseases. However, the change of xanthine oxidase activity following hemodialysis and its prognostic impact remain uncertain.Methods:We prospectively included hemodialysis patients and measured their xanthine oxidase activity before and after the index hemodialysis. Association between xanthine oxidase activity and other clinical variables and the impact of change in xanthine oxidase activity following hemodialysis on cardiovascular death were investigated.Results:A total of 46 patients (median 72 years old, 29 men) were included. Among baseline characteristics, alanine aminotransferase was positively correlated with xanthine oxidase activity (p < 0.001) and Kt/V for urea, serum sodium, and bicarbonate were negatively correlated with it. During hemodialysis, a common logarithm of xanthine oxidase activity decreased significantly from 1.16 (0.94, 1.27) to 1.03 (0.80, 1.20) (p < 0.01). Of them, xanthine oxidase activity remained unchanged or increased in 16 patients, who had a greater decrease in blood pressure and more hemoconcentration compared with those with decreased xanthine oxidase activity. Two–year survival from cardiovascular death was not significantly stratified by the changes in xanthine oxidase activity (p = 0.43).Conclusions:Baseline xanthine oxidase activity was enhanced in the hemodialysis patients compared with the healthy cohort. During hemodialysis, xanthine oxidase activity decreased among the overall cohort, whereas some patients experienced its increases, which was associated with unstable hemodynamics and hemoconcentration during hemodialysis.
The landscape of m6A regulators in multiple brain regions of Alzheimer's Disease
Authors: Liu ZiJie , Xia Qing , Zhao Xue , Zheng FeiFei , Xiao Jiaying , Ge FangLiang , Wang Dayong , Gao Xu 
Published: July 2022

Abstract
Alzheimer's disease is a neurodegenerative disease researched for many years, yet no effective curing methods are found. N6-methyladenosine (m6A) RNA methylation, an essential epitranscriptome regulation mechanism, has been discovered to affect several diseases and essential biological functions, such as brain cell development and aging, which are closely related to neurodegenerative diseases like AD. But the relationship between AD and m6A needs further investigation. Our work evaluated the alterations of m6A regulators and influences on the disease in 4 brain regions: postcentral gyrus, superior frontal gyrus, hippocampus, and entorhinal cortex. We found the expression levels of m6A regulators FTO, ELAVL1, and YTHDF2 were altered in disease samples and relative to pathology development and cognitive scores. We assessed the activation state of pathways and biological processes by the GSVA method, and pathways including N glycan metabolism, amino acid metabolism, and protein metabolism pathways were found to be affected by the m6A regulators. We also found different m6A modification patterns among different brain regions, mainly due to alterations of m6A readers. At last, we further evaluated the importance of those AD-related regulators based on the WCGNA method and discovered their potential targets, and constructed diagnose models in three of all four regions using key regulators including FTO, YTHDC1, YTHDC2 etc. and their potential target genes. This work might offer a reference for the follow-up study between m6A and Alzheimer's disease.