bluuebunny/crossref_metadata_2025_split huggingface dataset:
A two‐sample robust Bayesian Mendelian Randomization method accounting for linkage disequilibrium and idiosyncratic pleiotropy with applications to the COVID‐19 outcomes
Authors: Wang Anqi , Liu Wei , Liu Zhonghua 
Published: February 2022

AbstractMendelian randomization (MR) is a statistical method exploiting genetic variants as instrumental variables to estimate the causal effect of modifiable risk factors on an outcome of interest. Despite wide uses of various popular two‐sample MR methods based on genome‐wide association study summary level data, however, those methods could suffer from potential power loss or/and biased inference when the chosen genetic variants are in linkage disequilibrium (LD), and also have relatively large direct effects on the outcome whose distribution might be heavy‐tailed which is commonly referred to as the idiosyncratic pleiotropy phenomenon. To resolve those two issues, we propose a novel Robust Bayesian Mendelian Randomization (RBMR) model that uses the more robust multivariate generalized ‐distribution to model such direct effects in a probabilistic model framework which can also incorporate the LD structure explicitly. The generalized ‐distribution can be represented as a Gaussian scaled mixture so that our model parameters can be estimated by the expectation maximization (EM)‐type algorithms. We compute the standard errors by calibrating the evidence lower bound using the likelihood ratio test. Through extensive simulation studies, we show that our RBMR has robust performance compared with other competing methods. We further apply our RBMR method to two benchmark data sets and find that RBMR has smaller bias and standard errors. Using our proposed RBMR method, we find that coronary artery disease is associated with increased risk of critically ill coronavirus disease 2019. We also develop a user‐friendly R package RBMR (https://github.com/AnqiWang2021/RBMR) for public use.
The role of intracerebral dopamine D1 and D2 receptors in sleep‐wake cycles and general anesthesia
Authors: Zhang Jie , Li Jia , Liu Cheng‐Xi , Gui Huan , Yuan Cheng‐Dong , Zhang Yi 
Published: February 2022

AbstractDopamine (DA), a monoamine neurotransmitter, is synthesized and released mainly by neurons in the ventral tegmental area and the substantia nigra (SN) pars compacta of the midbrain. DA and its receptors are essential for the regulation of arousal, movement, cognition, reward, and other neurobiological behaviors. Arousal, locomotion, cognition, reward, and other neurobiological functions are all regulated by dopamine and its receptors. Dopamine receptors can be divided into D1‐like receptors (including D1 and D5) or D2‐like receptors (containing D2, D3, and D4), with D1 and D2 receptors (D1Rs, and D2Rs) being the most important. Currently, studies indicated that D1Rs and D2Rs are tightly involved with the process of sleep‐wake and general anesthesia, but the specific mechanism remains unclear. In this review, we compiled the most recent findings, mainly focusing on the structure, distribution, and signal pathway of D1Rs and D2Rs in the central nervous system, as well as the involvement of D1Rs and D2Rs in sleep‐wake and general anesthesia. Thus, the investigations of the D1Rs and D2Rs will benefit not only better knowledge for how sleep‐wake control works but also the mechanism of general anesthesia.
Healthy lifestyle and the risk of conventional adenomas and serrated polyps: Findings from a large colonoscopy screening population
Authors: Li Jiayu , You Liuqing , Xu Zenghao , Bai Hao , Fei Xinglin , Yang Jinhua , Li Qilong , Qian Sangni , Lin Shujuan , Tang Mengling , Wang Jianbing , Chen Kun , Jin Mingjuan 
Published: February 2022

AbstractEvidence on the link between healthy lifestyle and colorectal cancer (CRC) precursors is limited. Our study aimed to examine and compare the associations of healthy lifestyle with CRC precursors in adenoma (AD)‐carcinoma and serrated pathways. A total of 24 480 participants including 6309 ADs, 1343 serrated polyps (SPs), and 16 828 polyp‐free controls were included. A healthy lifestyle score (HLS) was constructed based on five lifestyle factors including cigarette smoking, alcohol drinking, physical activity, diet and body weight, and categorized into least, slightly, moderately and most healthy. Multivariable logistic regressions were used to estimate odds ratio (OR) and 95% confidence interval (CI). Inverse dose‐response associations between the HLS and risk of ADs were observed (OR per 1 score increment for ADs: 0.82 [95% CI 0.79‐0.84]; for SPs: 0.73 [95% CI 0.69‐0.78]), and the association with SPs was more evident than with ADs (OR 0.90, 95% CI 0.85‐0.96). Compared to participants with the least healthy lifestyle, those with the most healthy lifestyle had 47% lower risk of ADs (OR 0.53, 95% CI 0.47‐0.59) and 70% lower risk of SPs (OR 0.30, 95% CI 0.23‐0.39), respectively. These inverse associations were consistent across lesion stage and anatomic subsite and not modified by any stratification factors. The risk advancement periods for the most vs the least healthy lifestyle were −9.49 years for ADs and −20.69 years for SPs. Our findings help confirm the preventive role of healthy lifestyle in colorectal carcinogenesis.
A case of penile self‐mutilation during a suicidal attempt successfully treated using a multidisciplinary approach
Authors: Nagoshi Akihiko , Kijima Toshiki , Suzuki Issei , Sakamoto Kazumasa , Nozaki Fuyo , Fujisawa Daisuke , Sugawara Norio , Shimoda Kazutaka , Asato Hirotaka , Kamai Takao 
Published: February 2022

IntroductionPenile self‐mutilation is predominantly associated with psychiatric disorders and rarely occurs during suicide attempts by men with depressive mood disorders. Herein, we have reported a case of penile self‐mutilation by a patient with depression.Case presentationA 63‐year‐old man with a 20‐year treatment history of depression presented to our hospital an hour after cutting his penile shaft during a suicide attempt. Hemostasis was achieved by urologists, and his psychiatric condition was evaluated by psychiatrists. The patient and his family hoped for penile replantation. His mood disorders were controllable, and microscopic replantation was performed by plastic surgeons after multidisciplinary discussion. The patient recovered, urinated without any signs of urinary stricture, showed no progression of depression, and did not repeat the mutilation.ConclusionPenile self‐mutilation during suicide attempts is a rare urological emergency that requires multidisciplinary management involving urologists, psychiatrists, and plastic surgeons.
Gypenoside A attenuates dysfunction of pancreatic β cells by activating PDX1 signal transduction via the inhibition of miR‐150‐3p both in vivo and in vitro
Authors: Li Yue 
Published: February 2022

AbstractSaponin gypenoside A (GP) has shown its potential to handle diabetes mellitus. MicroRNA‐150‐3p (miR‐150‐3p) is closely related to the dysfunction of pancreatic β cells by targeting PDX1. Given the function of GP is related to its regulation on different miRs, the current study assessed the role of miR‐150‐3p as a therapeutic target for the hypoglycemic effects of GP. Pancreatic β cell dysfunction was induced in mice using the high‐fatty diet (HFD) method and then handled with GP. Changes in insulin release and resistance and the activity of the miR‐150‐3p/PDX1 axis were detected. The expression of miR‐150‐3p was induced to confirm its central in the effects of GP. The results of in vivo tests were then validated with in vitro assays. HFD administration suppressed glucose tolerance, delayed insulin release, and induced insulin resistance and pancreas apoptosis in mice, which was indicative of the dysfunction of β pancreatic cells. Changes in pancreatic β function were associated with the increased expression of miR‐150‐3p and suppressed expression of PDX1. After the administration of GP, the impairments of the pancreas were alleviated and the expression of miR‐150‐3p was inhibited, contributing to the restored level of PDX1. The injection of miR‐150‐3p agomir counteracted the protective effects of GP. In in vitro assays, the pretransfection of miR‐150‐3p mimetics also counteracted the protective effects of GP on pancreatic β cells against palmitic acid. Collectively, miR‐150‐3p played a key role in the protective effects of GP against pancreatic β cell dysfunction by inhibiting PDX1 expression.
Leveraging electronic health records to inform genetic counseling practice surrounding psychiatric disorders
Authors: Richter Lucas D. , Morley Theodore J. , Hooker Gillian W. , Peay Holly L. , Cox Nancy J. , Ruderfer Douglas M. 
Published: February 2022

AbstractSince nearly one‐fifth of US adults have a psychiatric disorder, genetic counselors (GCs) will see many patients with these indications. However, GCs’ reports of inadequate preparation and low confidence in providing care for patients with psychiatric disorders can limit their ability to meet patient's needs. How frequently psychiatric disorders present in GC sessions is currently unclear. Here, we used deidentified electronic health records (EHR) to estimate the prevalence of 16 psychiatric disorders. In 7,155 GC patients, 34% had a diagnostic code associated with a psychiatric disorder; 23% with anxiety/phobic disorders; 21% with mood disorder/depression; 5% with attention deficit hyperactivity disorder (ADHD); and 1% with psychotic disorders. Compared to 415,709 demographically matched controls, GC patients showed a significantly higher prevalence of psychiatric disorders (GC prevalence: 34%, matched prevalence: 30%, p‐value < 0.0001) driven predominantly by anxiety disorder, major depressive disorder, generalized anxiety disorder, and ADHD. Within GC specialties (prenatal: n = 2,674, cancer: n = 1,474, pediatric: n = 465), only pediatric GC patients showed a significant increase in psychiatric disorder prevalence overall (pediatric GC prevalence: 28%, matched prevalence: 13%, p‐value < 0.0001). However, significant evidence of increased prevalence existed for generalized anxiety disorder (prenatal GC prevalence 6.4%, matched prevalence: 4.9%, p‐value < 0.0001), anxiety disorders (cancer GC prevalence: 26%, matched prevalence: 21%, p‐value < 0.0001 and pediatric GC prevalence: 12%, matched prevalence: 5.5%), and ADHD (pediatric GC prevalence: 18%, matched prevalence: 7.9%, p‐value < 0.0001). These results highlight the need for additional guidance around care for patients with psychiatric disorders and the value of EHR‐based research in genetic counseling.
Clashes of cultures in an international aid organisation: Information cultures, languages and the use of information systems
Authors: Frings‐Hessami Viviane , Oliver Gillian 
Published: February 2022

AbstractInternational non‐governmental organisations (INGOs) bring together actors from three very different backgrounds: international aid workers, national aid workers generally from the urban middle classes and disadvantaged communities. However, the ways national aid workers negotiate their cultural encounters and use accountability tools and information systems have not been the objects of much research. In this article, we analyse how the Bangladeshi employees of an INGO with headquarters in the United Kingdom and a country branch in Bangladesh are using accountability tools and information systems developed by and for English speakers and how they are coming up with work practices that are more attuned with their cultural and linguistic preferences.
Development of a flavor hop (Humulus lupulus L.) cultivar, ‘Furano Magical’, with cones rich in 4‐methyl‐4‐sulfunylpentan‐2‐one
Authors: Koie Koichiro , Takazumi Koji , Hamaguchi Tetsu , Takoi Kiyoshi , Itoga Yutaka , Uemoto Mitsuhiro , Goto Masanobu , Ogushi Kensuke , Suda Narushi 
Published: February 2022

AbstractBACKGROUNDFlavor hops (Humulus lupulus L.) are recognized as key raw materials that impart unique flavors to beer, especially in the emerging craft‐beer industry. In this study the sensory evaluation of hop cone aromas using hop water extract by boiling (HWEB) was applied to develop new flavor hop cultivars in a screening from tens of varieties and breeding lines.RESULTSThe sensory scores of HWEB showed a significant correlation with polyfunctional thiol content in hop cones, including substances such as 4‐methyl‐4‐sulfunylpentan‐2‐one (4MSP) and 3‐sulfunyl‐4‐methylpentan‐1‐ol (3S4MP), which are known to be difficult to analyze mechanically. As a result of the sensory evaluation of HWEB, a breeding line, ‘K906901060’ was found to have a strong fruity note. Subsequent chemical analyses revealed that this cultivar had 80–136 μg kg−1 of 4MSP in its cones, which is similar to the concentration present in current leading flavor hop cultivars, such as Citra (37–114 μg kg−1) and Simcoe (2–112 μg kg−1). Beer late‐hopped with K906901060 provoked a greater tropical flavor impression than beer hopped using Nelson Sauvin hops.CONCLUSIONThe sensory evaluation of HWEB was indicated to be useful to search for hops containing polyfunctional thiols. The plant was registered, as ‘Furano K906901060 Go’ in Japan, in the EU, and in the USA, and the cultivar was given the commercial name ‘Furano Magical’. This cultivar was derived from a cross performed in 1989 and had been kept as a mid‐mother plant from 1997, until being selected in 2014, as described here. © 2022 Society of Chemical Industry.
Simulation analysis and freshness prediction of eggs laid at room temperature
Authors: Wang Jiaojiao , Wang Qiaohua , Cao Rui , Liu Xiaoqing , Ma Meihu 
Published: February 2022

AbstractBACKGROUNDRespiration is an important physiological activity of eggs and is closely related to their freshness. To further observe the diffusion of carbon dioxide released by egg respiration, we used a respirometer to measure the respiration parameters of eggs stored at room temperature and performed a respiration simulation using Fluent software. This paper also explores the relationship between respiratory intensity, freshness, and storage period.RESULTSThe results demonstrate that the diffusion of carbon dioxide released from the respiration of eggs is related to the characteristics of heavy gas diffusion. By comparison, the simulated value (0.0199 m s−1) is close to the experimental value (0.0208 m s−1), which indicates that the simulation and analysis results are valid. In addition, the logarithmic model was used to assess the relationship between respiration intensity, Haugh unit, and the yolk index (R2 values 0.89 and 0.87). The R2 of the relationship between the real and the predicted Haugh unit value and the yolk index are 0.9 and 0.84 respectively, indicating that the model is a good fit. The equivalent egg age model was established using nonlinear regression, where the correlation coefficient R was 0.888 and P < 0.01, indicating it was both stable and reliable.CONCLUSIONThe standard k–ε model is suitable for egg respiration simulation analysis. Respiratory intensity can be used as a potential index for nondestructive testing of egg freshness, which is a new method for nondestructive testing of egg freshness and storage period. © 2022 Society of Chemical Industry.
Applicability of Transnasal Echography for Identification of Internal Carotid Artery
Authors: Katz Uriel , Nakache Gabriel , Alon Eran E. , Yakirevitch Arkadi 
Published: February 2022

ObjectiveTo study the applicability of transnasal echography for the internal carotid artery (ICA) imaging during endoscopic procedures, primarily nasopharyngectomy.Study DesignNon‐randomized controlled cohort.MethodsThe tip of a pediatric transducer for transesophageal echography was inserted into each nostril under endoscopic control and placed in the ipsilateral Rosenmuller's fossa. The ICA's internal diameter and distance between the nasopharyngeal wall and the artery's closest point were measured on each side. Two independent examiners measured the same parameters on the axial plane of the skull base computer tomography (CT). Agreement between CT and echography measurements was estimated by the Bland–Altman approach.ResultsTwenty‐seven ICAs (sides) were available for the echography‐CT agreement analysis. Inter method agreement for both parameters was similar to the inter examiner agreement for the CT measurements.ConclusionsOur first study on endoscopic echography demonstrated that this method is applicable, potentially allowing safer transnasal surgery in the ICA vicinity.Level of Evidence3 Laryngoscope, 132:1184–1188, 2022
Genetic analysis and clinical significance of a rare t(1;12)(q21;p13) in a patient with high‐risk myelodysplastic syndrome
Authors: Fang Fang , Jia Ru , Liu Congyan , Zhao Hong , Sun Wanling 
Published: February 2022

AbstractTo explore the genetic and clinical features of a rare t(1;12)(q21;p13) in a patient with myelodysplastic syndrome (MDS). A 53‐year‐old male was diagnosed as high‐risk MDS, and died in a short period. A complete cytogenetic analysis of bone marrow by conventional G‐banding karyotyping was performed at the time of initial evaluation. On the basis of chromosome karyotype, interphase and metaphase fluorescence in‐situ hybridization (FISH) were carried out to further confirm the abnormal karyotypes. Reverse‐transcription polymerase chain reaction (RT‐PCR) was performed to determine ETV6/ARNT fusion gene status. G‐banding revealed karyotype 47, XY, +8, der(12) t(1;12)(q21;p13). FISH with the centromere 8 probe verified the trisomy 8, and the ETV 6 break‐apart probe suggested heterozygous loss of ETV6 allele located in short arm of chromosome 12. Subsequently, the painting probe of whole chromosome 12 further confirmed the part break of short arm of chromosome 12, and the 1q21/1p36 probe yielded three signals of 1q21 and two signals of 1p36. The results of FISH were in accordance with the karyotype completely. No ETV6/ARNT fusion gene was detected by PCR. T(1;12)(q21;p13) is a rare abnormal karyotype, and the limited reports cannot supply definite clinical significance. Rapid deterioration of our case suggests this translocation of chromosome might have a poor effect on the survival of MDS.
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia
Authors: Vo Mary L. , Levy Tess , Lakhani Shenela , Wang Chengbing , Ross M. Elizabeth 
Published: February 2022

AbstractBackgroundAdult‐onset Nieman–Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unesterified cholesterol resulting in severe disability and death. The diagnosis of NPC can be challenging as clinical features overlap with other more common hereditary ataxias. This study pursued the molecular genetic basis of adult‐onset cerebellar ataxia manifesting in two siblings. A prior diagnosis of spinocerebellar ataxia type 2 (SCA2) based on an ataxia gene panel was questioned when the younger sibling developed similar symptoms but had discordant genetic results.MethodsNeurologic examination, whole exome sequence (WES), targeted sequence to establish genome phasing, and cytochemical and biochemical studies of fibroblast cultures were employed.ResultsThe pedigree and neurological examinations suggested a recessive or possibly dominant cerebellar ataxia. WES showed the siblings were both compound heterozygous for two rare variants in the NPC1 gene—one pathogenic, stop gain at p.Arg934Ter (NM_000271.4), and a missense change, p.Pro471Leu (NM_000271.4), of uncertain significance. Filipin staining of fibroblast cultures showed lysosomal cholesterol accumulation and biochemical assay demonstrated impaired cholesterol esterification.ConclusionsThe study established the correct molecular diagnosis of biallelic, adult‐onset NPC in a patient initially diagnosed with SCA. Additionally, the p.Pro471Leu variant was identified as likely pathogenic. Inaccurate molecular diagnosis will deprive NPC patients of treatment options. Investigation using WES is justified when a detected expansion size is in the borderline range for pathogenicity.
Technical note: Controlling the attenuation of 3D‐printed physical phantoms for computed tomography with a single material
Authors: Tong Huayu , Pegues Hope , Samei Ehsan , Lo Joseph Y. , Wiley Benjamin J. 
Published: February 2022

AbstractPurposeThe purpose of this work was to characterize and improve the ability of fused filament fabrication to create anthropomorphic physical phantoms for CT research. Specifically, we sought to develop the ability to create multiple levels of X‐ray attenuation with a single material.MethodsCT images of 3D printed cylinders with different infill angles and printing patterns were assessed by comparing their 2D noise power spectra to determine the conditions that produced minimal and uniform noise. A backfilling approach in which additional polymer was extruded into an existing 3D printed background layer was developed to create multiple levels of image contrast.ResultsA print with nine infill angles and a rectilinear infill pattern was found to have the best uniformity, but the printed objects were not as uniform as a commercial phantom. An HU dynamic range of 600 was achieved by changing the infill percentage from 40% to 100%. The backfilling technique enabled control of up to eight levels of contrast within one object across a range of 200 HU, similar to the range of soft tissue. A contrast detail phantom with six levels of contrast and an anthropomorphic liver phantom with four levels of contrast were printed with a single material.ConclusionThis work improves the uniformity and levels of contrast that can be achieved with fused filament fabrication, thereby enabling researchers to easily create more detailed physical phantoms, including realistic, anthropomorphic textures.
A heat transfer problem with exponential memory and the associated thermal stresses
Authors: Avcı Derya , İskender Eroğlu Beyza Billur , Özdemir Necati 
Published: February 2022

AbstractIn this study, a heat transfer problem defined by the Caputo–Fabrizio derivative, which is known to behave by the exponential decaying law, is addressed in an axially symmetric cylindrical region. Thus, the fundamental solutions of the heat diffusion process and the associated thermal stresses are aimed to find. For this purpose, Laplace and finite Hankel integral transforms are applied according to the geometry of the region. To obtain the thermal stresses, constitutive relations of the classical thermoelasticity theory are used. The effects of fractional orders on the diffusion process are illustrated graphically using MATLAB.
Alcohol Dehydrogenases with anti‐Prelog Stereopreference in Synthesis of Enantiopure Alcohols
Authors: Musa Musa M. 
Published: February 2022

AbstractBiocatalytic production of both enantiomers of optically active alcohols with high enantiopurities is of great interest in industry. Alcohol dehydrogenases (ADHs) represent an important class of enzymes that could be used as catalysts to produce optically active alcohols from their corresponding prochiral ketones. This review covers examples of the synthesis of optically active alcohols using ADHs that exhibit anti‐Prelog stereopreference. Both wild‐type and engineered ADHs that exhibit anti‐Prelog stereopreference are highlighted.