bluuebunny/crossref_metadata_2025_split huggingface dataset:
New insights on familial colorectal cancer type X syndrome
Authors: Garcia Felipe Antonio de Oliveira , de Andrade Edilene Santos , de Campos Reis Galvão Henrique , da Silva Sábato Cristina , Campacci Natália , de Paula Andre Escremin , Evangelista Adriane Feijó , Santana Iara Viana Vidigal , Melendez Matias Eliseo , Reis Rui Manuel , Palmero Edenir Inez 
Published: February 2022

AbstractFamilial colorectal cancer type X (FCCTX) is a heterogeneous colorectal cancer predisposition syndrome that, although displays a cancer pattern similar to Lynch syndrome, is mismatch repair proficient and does not exhibit microsatellite instability. Besides, its genetic etiology remains to be elucidated. In this study we performed germline exome sequencing of 39 cancer-affected patients from 34 families at risk for FCCTX. Variant classification followed the American College of Medical Genetics and Genomics (ACMG) guidelines. Pathogenic/likely pathogenic variants were identified in 17.65% of the families. Rare and potentially pathogenic alterations were identified in known hereditary cancer genes (CHEK2), in putative FCCTX candidate genes (OGG1 and FAN1) and in other cancer-related genes such as ATR, ASXL1, PARK2, SLX4 and TREX1. This study provides novel important clues that can contribute to the understanding of FCCTX genetic basis.
Identification of genomic signatures in bone marrow associated with clinical response of CD19 CAR T-cell therapy
Authors: Shao Lipei , Iyer Avinash , Zhao Yingdong , Somerville Rob , Panch Sandhya , Pelayo Alejandra , Stroncek David F. , Jin Ping 
Published: February 2022

AbstractCD19 CAR T-cell immunotherapy is a breakthrough treatment for B cell malignancies, but relapse and lack of response remain a challenge. The bone marrow microenvironment is a key factor in therapy resistance, however, little research has been reported concerning the relationship between transcriptomic profile of bone marrow prior to lymphodepleting preconditioning and clinical response following CD19 CAR T-cell therapy. Here, we applied comprehensive bioinformatic methods (PCA, GO, GSEA, GSVA, PAM-tools) to identify clinical CD19 CAR T-cell remission-related genomic signatures. In patients achieving a complete response (CR) transcriptomic profiles of bone marrow prior to lymphodepletion showed genes mainly involved in T cell activation. The bone marrow of CR patients also showed a higher activity in early T cell function, chemokine, and interleukin signaling pathways. However, non-responding patients showed higher activity in cell cycle checkpoint pathways. In addition, a 14-gene signature was identified as a remission-marker. Our study indicated the indexes of the bone marrow microenvironment have a close relationship with clinical remission. Enhancing T cell activation pathways (chemokine, interleukin, etc.) in the bone marrow before CAR T-cell infusion may create a pro-inflammatory environment which improves the efficacy of CAR T-cell therapy.
Two new Russula species (fungi) from dry dipterocarp forest in Thailand suggest niche specialization to this habitat type
Authors: Wisitrassameewong Komsit , Manz Cathrin , Hampe Felix , Looney Brian P. , Boonpratuang Thitiya , Verbeken Annemieke , Thummarukcharoen Tuksaporn , Apichitnaranon Tanakorn , Pobkwamsuk Maneerat , Caboň Miroslav , Adamčík Slavomír 
Published: February 2022

AbstractDry dipterocarp forests are among the most common habitat types in Thailand. Russulaceae are known as common ectomycorrhizal symbionts of Dipterocarpaceae trees in this type of habitat. The present study aims to identify collections of Russula subsection Amoeninae Buyck from dry dipterocarp forests in Thailand. A multi-locus phylogenetic analysis placed Thai Amoeninae collections in two novel lineages, and they are described here as R. bellissima sp. nov. and R. luteonana sp. nov. The closest identified relatives of both species were sequestrate species suggesting that they may belong to drought-adapted lineages. An analysis of publicly available ITS sequences in R. subsect. Amoeninae did not confirm evidence of any of the new species occurring in other Asian regions, indicating that dry dipterocarp forests might harbor a novel community of ectomycorrhizal fungi. Macromorphological characters are variable and are not totally reliable for distinguishing the new species from other previously described Asian Amoeninae species. Both new species are defined by a combination of differentiated micromorphological characteristics in spore ornamentation, hymenial cystidia and hyphal terminations in the pileipellis. The new Amoeninae species may correspond to some Russula species collected for consumption in Thailand, and the detailed description of the new species can be used for better identification of edible species and food safety in the region.
Bone quality affects stability of orthodontic miniscrews
Authors: Yu Wan-Ping , Tsai Ming-Tzu , Yu Jian-Hong , Huang Heng-Li , Hsu Jui-Ting 
Published: February 2022

AbstractThe objective of this study was to evaluate the effect of bone–miniscrew contact percentage (BMC%) and bone quality and quantity on orthodontic miniscrew stability and the maximum insertion torque value (ITV). Orthodontic miniscrews of five different dimensions and several bovine iliac bone specimens were used in the evaluation. Miniscrews of each dimension group were inserted into 20 positions in bovine iliac bone specimens. The experiment was divided into three parts: (1) Bone quality and quantity were evaluated using cone-beam computed tomography (CBCT) and microcomputed tomography. (2) The 3D BMC% was calculated. (3) The ITVs during miniscrew insertion were recorded to evaluate the stability of the orthodontic miniscrews. The results indicated that longer and thicker miniscrews enabled higher ITVs. CBCT was used to accurately measure cortical bone thickness (r = 0.939, P < 0.05) and to predict the bone volume fraction of cancellous bone (r = 0.752, P < 0.05). BMC% was significantly influenced by miniscrew length. The contribution of cortical bone thickness to the ITV is greater than that of cancellous bone structure, and the contribution of cortical bone thickness to BMC% is greater than that of cancellous bone structure. Finally, the higher is BMC%, the greater is the ITV. This study concludes that use of CBCT may predict the mechanical stability of orthodontic miniscrews.
Comparing DNA yield from fish scales following different extraction protocols
Authors: Shuttleworth Loraine , Oosthuizen Carel Jakobus 
Published: February 2022

AbstractStudies on genetic diversity, adaptive potential and fitness of species have become a major tool in conservation biology. These studies require biological material containing a reliable source of DNA which can be extracted and analysed. Recently, non-invasive sampling has become the preferred sampling method of such biological material; particularly when studying endangered species. Elasmoid scales from teleost fish are an example of non-invasive samples from which DNA can successfully be extracted. This study compared different extraction protocols to find an optimal method for extracting DNA from teleost fish scales. This was done with the intent to use the protocol that yielded the highest quantity of DNA on dried, archived scales. The protocols tested in this study included (1) phenol/chloroform with a TNES-urea digestion buffer, (2) phenol/chloroform with an amniocyte digestion buffer and (3) Qiagen DNeasy Blood and Tissue Kit with variations in incubation times and temperatures of each protocol. While the phenol/chloroform with TNES-urea digestion buffer yielded significantly higher concentrations of DNA compared to the other protocols, all protocols followed in this study yielded sufficient quantities of DNA for further downstream applications. Therefore, while there are multiple viable options when selecting a DNA extraction protocol, each research project’s individual needs, requirements and resources need to be carefully considered in order to choose the most effective protocol.
Demirjian and Cameriere methods for age estimation in a Spanish sample of 1386 living subjects
Authors: Melo Maria , Ata-Ali Fadi , Ata-Ali Javier , Martinez Gonzalez José María , Cobo Teresa 
Published: February 2022

AbstractCurrently, human identification is a challenge. Migration due to war, economic crisis or other factors is frequent. The wisdom teeth are the last teeth to initiate and complete development therefore, are fundamental for determining the legal age of majority in different countries. The aim of the study is to determine the validity of two methods based on mineralisation of the third molar to predict the ages of majority of individuals in a Spanish population. Orthopantomographies of 636 men and 750 women (mean age, 16.5 years) were analysed. The Demirjian and Cameriere methods were used, and each tooth was assigned a value according to the degree of mineralisation and maturation. The level of significance used in the analyses was 5% (α = 0.05), with a power of 96.2%. The predictive ability of the Demirjian method to determine 18 years of age in the lower wisdom teeth 93%, respectively. The Cameriere method has a predictive capacity of 88%. There are no statistically significant differences between men and women. Stage H and a cut-off point of 0.08 were the guiding values for determining the age of majority of the study population. For other proposed age ranges (14 and 16 years), both methods were useful in determining the actual age of individuals, with the Demirjian method having a sensitivity of 97.5% with and Cameriere having a predictive capacity of 95%. Both methods can be used with high reliability to determine the age of individuals where reliable documentation is unavailable. Stage H with the Demirjian method and a cut-off point of 0.08 with the Cameriere method can determine the age of majority of the Spanish population. The combination of the two methods does not substantially increase predictive ability.
Quasi-continuous production of highly hyperpolarized carbon-13 contrast agents every 15 seconds within an MRI system
Authors: Schmidt Andreas B. , Zimmermann Mirko , Berner Stephan , de Maissin Henri , Müller Christoph A. , Ivantaev Vladislav , Hennig Jürgen , Elverfeldt Dominik v. , Hövener Jan-Bernd 
Published: February 2022

AbstractHyperpolarized contrast agents (HyCAs) have enabled unprecedented magnetic resonance imaging (MRI) of metabolism and pH in vivo. Producing HyCAs with currently available methods, however, is typically time and cost intensive. Here, we show virtually-continuous production of HyCAs using parahydrogen-induced polarization (PHIP), without stand-alone polarizer, but using a system integrated in an MRI instead. Polarization of ≈2% for [1-13C]succinate-d2 or ≈19% for hydroxyethyl-[1-13C]propionate-d3 was created every 15 s, for which fast, effective, and well-synchronized cycling of chemicals and reactions in conjunction with efficient spin-order transfer was key. We addressed these challenges using a dedicated, high-pressure, high-temperature reactor with integrated water-based heating and a setup operated via the MRI pulse program. As PHIP of several biologically relevant HyCAs has recently been described, this Rapid-PHIP technique promises fast preclinical studies, repeated administration or continuous infusion within a single lifetime of the agent, as well as a prolonged window for observation with signal averaging and dynamic monitoring of metabolic alterations.
Acid anion electrolyte effects on platinum for oxygen and hydrogen electrocatalysis
Authors: Kamat Gaurav Ashish , Zamora Zeledón José A. , Gunasooriya G. T. Kasun Kalhara , Dull Samuel M. , Perryman Joseph T. , Nørskov Jens K. , Stevens Michaela Burke , Jaramillo Thomas F. 
Published: February 2022

AbstractPlatinum is an important material with applications in oxygen and hydrogen electrocatalysis. To better understand how its activity can be modulated through electrolyte effects in the double layer microenvironment, herein we investigate the effects of different acid anions on platinum for the oxygen reduction/evolution reaction (ORR/OER) and hydrogen evolution/oxidation reaction (HER/HOR) in pH 1 electrolytes. Experimentally, we see the ORR activity trend of HClO4 > HNO3 > H2SO4, and the OER activity trend of HClO4$$ > $$>HNO3∼ H2SO4. HER/HOR performance is similar across all three electrolytes. Notably, we demonstrate that ORR performance can be improved 4-fold in nitric acid compared to in sulfuric acid. Assessing the potential-dependent role of relative anion competitive adsorption with density functional theory, we calculate unfavorable adsorption on Pt(111) for all the anions at HER/HOR conditions while under ORR/OER conditions$${{{{{\rm{Cl}}}}}}{{{{{{\rm{O}}}}}}}_{4}^{-}$$ClO4−binds the weakest followed by$${{{{{\rm{N}}}}}}{{{{{{\rm{O}}}}}}}_{3}^{-}$$NO3−and$${{{{{\rm{S}}}}}}{{{{{{\rm{O}}}}}}}_{4}^{2-}$$SO42−. Our combined experimental-theoretical work highlights the importance of understanding the role of anions across a large potential range and reveals nitrate-like electrolyte microenvironments as interesting possible sulfonate alternatives to mitigate the catalyst poisoning effects of polymer membranes/ionomers in electrochemical systems. These findings help inform rational design approaches to further enhance catalyst activity via microenvironment engineering.
Nontarget mass spectrometry and in silico molecular characterization of air pollution from the Indian subcontinent
Authors: Papazian Stefano , D’Agostino Lisa A. , Sadiktsis Ioannis , Froment Jean , Bonnefille Bénilde , Sdougkou Kalliroi , Xie Hongyu , Athanassiadis Ioannis , Budhavant Krishnakant , Dasari Sanjeev , Andersson August , Gustafsson Örjan , Martin Jonathan W. 
Published: February 2022

AbstractFine particulate-matter is an important component of air pollution that impacts health and climate, and which delivers anthropogenic contaminants to remote global regions. The complex composition of organic molecules in atmospheric particulates is poorly constrained, but has important implications for understanding pollutant sources, climate-aerosol interactions, and health risks of air pollution exposure. Here, comprehensive nontarget high-resolution mass spectrometry was combined with in silico structural prediction to achieve greater molecular-level insight for fine particulate samples (n = 40) collected at a remote receptor site in the Maldives during January to April 2018. Spectral database matching identified 0.5% of 60,030 molecular features observed, while a conservative computational workflow enabled structural annotation of 17% of organic structures among the remaining molecular dark matter. Compared to clean air from the southern Indian Ocean, molecular structures from highly-polluted regions were dominated by organic nitrogen compounds, many with computed physicochemical properties of high toxicological and climate relevance. We conclude that combining nontarget analysis with computational mass spectrometry can advance molecular-level understanding of the sources and impacts of polluted air.
Minimal, Maximal, or Multiple: Which Contrastive Intervention Approach to Use With Children With Speech Sound Disorders?
Authors: Storkel Holly L. 
Published: February 2022

Purpose:This tutorial contrasts a familiar and frequently used speech sound disorder (SSD) intervention approach, conventional minimal pair, with newer but less familiar and less frequently used variants that may be more effective: (a) maximal opposition and (b) multiple oppositions.Method:This tutorial provides a general description of each contrastive approach, focusing on the evidence base and a small number of critical elements that define the approach and make it unique from all other approaches. Hypothetical cases are used to illustrate how the approaches can be tailored to child needs and speech-language pathologist (SLP) expertise. Supplemental materials enhance the reader's skill in using these approaches in their practice with a minimal initial investment.Results:The reader will be able to identify which children with SSD are appropriate for conventional minimal pair, maximal opposition, or multiple oppositions approaches and will be able to plan intervention (i.e., select target sounds and contrasting words or nonwords, develop intervention activities, write goals, and determine intervention intensity) for each of these approaches.Conclusions:This tutorial highlights that using the conventional minimal pair approach should be restricted to children with a small number of errors (i.e., older children or children with mild SSD). There is an opportunity for SLPs to use newer, more efficacious approaches with younger children and children with more severe SSDs. The maximal opposition approach is well suited to children with multiple errors across multiple sound classes. The multiple oppositions approach specifically targets global phoneme collapses that impact intelligibility.Supplemental Material:https://doi.org/10.23641/asha.19178783
Development and Usability Testing of a Web-Based Adaptation of the Joint Attention, Symbolic Play, Engagement, and Regulation Social Communication Intervention
Authors: Shire Stephanie Y. , Arbuckle Stacy , Bao Wenjing 
Published: February 2022

Purpose:
Technology-enabled adaptations of efficacious in-person early intervention programs for young children with autism spectrum disorder have the potential to conserve resources while increasing access to specialized educational services. Usability testing of online programs can support participant engagement by aligning program navigation and content presentation with the needs and preferences of the target end users.

Method:
The project includes formative work to develop a technology-enabled adaptation of the evidence-based caregiver-mediated Joint Attention, Symbolic Play, Engagement, and Regulation (Kasari et al., 2010) social communication intervention to be delivered by community-based early interventionists and early childhood special educators who are serving families of young children with autism in rural and remote communities. Usability testing included two components: (a) Think Aloud real-time feedback interviews (Davison et al., 1997) and (b) completion of the System Usability Scale (Sauro, 2011). The measures were conducted to explore the stakeholders' interactions with the system.

Results:
Feedback was largely positive indicating that the online materials were straight forward to navigate, the content was valued, visuals enhanced the experience, and multiple methods to access information (e.g., listen or read) were appreciated. Suggestions for improvement included adding further video examples, reducing page scrolling, and making some activities optional (e.g., text boxes, multiple-choice questions).

Conclusions:
Overall, participants smoothly navigated through the pilot materials. Revisions are being implemented to incorporate the participants' feedback.
Ionization of heavy elements and the adiabatic exponent in the solar plasma
Authors: Baturin V. A. , Oreshina A. V. , Däppen W. , Ayukov S. V. , Gorshkov A. B. , Gryaznov V. K. , Iosilevskiy I. L. 
Published: February 2022

Context. The adiabatic exponent Γ1 is studied as a thermodynamic quantity in the partially ionized plasma of the solar convection zone.
Aims. The aim of this study is to understand the impact of heavy elements on the Γ1 profile. We calculated Γ1 with the SAHA-S equation of state for different chemical compositions of plasma, and we analyzed contributions of individual elements to Γ1. We attempted to determine the mass fractions of the heavy elements using our analysis of the Γ1 profile.
Methods. We studied the decrease in Γ1 due to the ionization of heavy elements in comparison with the value obtained for a pure hydrogen-helium plasma. These types of differences are denoted as “Z contributions”, and we analyzed them for eight elements (C, N, O, Ne, Mg, S, Si, and Fe) as well as for a mixture of elements corresponding to the solar chemical composition. The contributions of the heavy elements are studied on an adiabat in the lower part of the convection zone, where the influence of hydrogen and helium to the Z contribution is minimal. The Z-contribution profiles are unique for each chemical element. We compared linear combinations of individual Z contributions with the exact Z contribution. Applying a least-squares technique to the decomposition of the full Z contribution to a basis of individual-element contributions, we obtained the mass fractions of the heavy elements.
Results. The Z contribution of heavy elements can be described by a linear combination of individual-element Z contributions with a high level of accuracy of 5 × 10−6. The inverse problem of estimating the mass fractions of heavy elements from a given Γ1 profile was considered for the example of solar-type mixtures. In ideal numerical simulations, the mass fractions of the most abundant elements could be determined with a relative accuracy better than a few tenths of a percent. In the presence of random or systematic errors in the Γ1 profile, abundance estimations become remarkably less accurate, especially due to unknown features of the equations of state. If the amplitude of the errors does not exceed 10−4, we can expect a determination of at least the oxygen abundance with a relative error of about 10%. Otherwise, the results of the method would not be reliable.
A Low Subfrontal Dural Opening for Operative Management of Anterior Skull Base Lesions
Authors: Cler Samuel J. , Dunn Gavin P. , Zipfel Gregory J. , Dacey Ralph G. , Chicoine Michael R. 
Published: February 2022

Abstract
Introduction A low subfrontal dural opening technique that limits brain manipulation was assessed in patients who underwent frontotemporal approaches for anterior fossa lesions.
Methods A retrospective review was performed for cases using a low subfrontal dural opening including characterization of demographics, lesion size and location, neurological and ophthalmological assessments, clinical course, and imaging findings.
Results A low subfrontal dural opening was performed in 23 patients (17F, 6M), median age of 53 years (range 23–81) with a median follow-up duration of 21.9 months (range 6.2–67.1). Lesions included 22 meningiomas (nine anterior clinoid, 12 tuberculum sellae, and one sphenoid wing), one unruptured internal carotid artery aneurysm clipped during a meningioma resection, and one optic nerve cavernous malformation. Maximal possible resection was achieved in all cases including gross total resection in 16/22 (72.7%), near total in 1/22 (4.5%), and subtotal in 5/22 (22.7%) in which tumor involvement of critical structures limited complete resection. Eighteen patients presented with vision loss; 11 (61%) improved postoperatively, three (17%) were stable, and four (22%) worsened. The mean ICU stay and time to discharge were 1.3 days (range 0–3) and 3.8 days (range 2–8).
Conclusion A low sub-frontal dural opening for approaches to the anterior fossa can be performed with minimal brain exposure, early visualization of the optico-carotid cistern for cerebrospinal fluid release, minimizing need for fixed brain retraction, and Sylvian fissure dissection. This technique can potentially reduce surgical risk and provide excellent exposure for anterior skull base lesions with favorable extent of resection, visual recovery, and complication rates.