bluuebunny/crossref_metadata_2025_split huggingface dataset:
Microdeletions and microduplications linked to severe congenital disorders in infertile men
Authors: Kikas Triin , Punab Anna Maria , Kasak Laura , Poolamets Olev , Vihljajev Vladimir , Pomm Kristjan , Reiman Mario , Tjagur Stanislav , Korrovits Paul , Punab Margus , Laan Maris 
Published: January 2023

AbstractData on the clinical validity of DNA copy number variants (CNVs) in spermatogenic failure (SPGF) is limited. This study analyzed the genome-wide CNV profile in 215 men with idiopathic SPGF and 62 normozoospermic fertile men, recruited at the Andrology Clinic, Tartu University Hospital, Estonia. A two-fold higher representation of > 1 Mb CNVs was observed in men with SPGF (13%, n = 28) compared to controls (6.5%, n = 4). Seven patients with SPGF were identified as carriers of microdeletions (1q21.1; 2.4 Mb) or microduplications (3p26.3, 1.1 Mb; 7p22.3-p22.2, 1.56 Mb; 10q11.22, 1.42 Mb, three cases; Xp22.33; 2.3 Mb) linked to severe congenital conditions. Large autosomal CNV carriers had oligozoospermia, reduced or low-normal bitesticular volume (22–28 ml). The 7p22.3-p22.2 microduplication carrier presented mild intellectual disability, neuropsychiatric problems, and short stature. The Xp22.33 duplication at the PAR1/non-PAR boundary, previously linked to uterine agenesis, was detected in a patient with non-obstructive azoospermia. A novel recurrent intragenic deletion in testis-specific LRRC69 was significantly overrepresented in patients with SPGF compared to the general population (3.3% vs. 0.85%; χ2 test, OR = 3.9 [95% CI 1.8–8.4], P = 0.0001). Assessment of clinically valid CNVs in patients with SPGF will improve their management and counselling for general and reproductive health, including risk of miscarriage and congenital disorders in future offspring.
Assessing the external validity of machine learning-based detection of glaucoma
Authors: Li Chi , Chua Jacqueline , Schwarzhans Florian , Husain Rahat , Girard Michaël J. A. , Majithia Shivani , Tham Yih-Chung , Cheng Ching-Yu , Aung Tin , Fischer Georg , Vass Clemens , Bujor Inna , Kwoh Chee Keong , Popa-Cherecheanu Alina , Schmetterer Leopold , Wong Damon 
Published: January 2023

AbstractStudies using machine learning (ML) approaches have reported high diagnostic accuracies for glaucoma detection. However, none assessed model performance across ethnicities. The aim of the study is to externally validate ML models for glaucoma detection from optical coherence tomography (OCT) data. We performed a prospective, cross-sectional study, where 514 Asians (257 glaucoma/257 controls) were enrolled to construct ML models for glaucoma detection, which was then tested on 356 Asians (183 glaucoma/173 controls) and 138 Caucasians (57 glaucoma/81 controls). We used the retinal nerve fibre layer (RNFL) thickness values produced by the compensation model, which is a multiple regression model fitted on healthy subjects that corrects the RNFL profile for anatomical factors and the original OCT data (measured) to build two classifiers, respectively. Both the ML models (area under the receiver operating [AUC] = 0.96 and accuracy = 92%) outperformed the measured data (AUC = 0.93; P < 0.001) for glaucoma detection in the Asian dataset. However, in the Caucasian dataset, the ML model trained with compensated data (AUC = 0.93 and accuracy = 84%) outperformed the ML model trained with original data (AUC = 0.83 and accuracy = 79%; P < 0.001) and measured data (AUC = 0.82; P < 0.001) for glaucoma detection. The performance with the ML model trained on measured data showed poor reproducibility across different datasets, whereas the performance of the compensated data was maintained. Care must be taken when ML models are applied to patient cohorts of different ethnicities.
PDJ amplicon in triple negative breast cancer
Authors: Roesler Alexander S. , Malasi Smriti , Koslosky Lori , Hartmayer Peter , Naab Tammey J. , Carter Jodi M. , Zahrieh David , Hillman David , Leon-Ferre Roberto A. , Couch Fergus J. , Goetz Matthew P. , Anderson Karen S. , Pockaj Barbara A. , Barrett Michael T. 
Published: January 2023

AbstractAmplification of chromosome 9p24.1 targetingPD-L1,PD-L2, andJAK2(PDJ amplicon) is present in subsets of triple negative breast cancers (TNBCs) and is associated with poor clinical outcomes. However, the prevalence of PDJ+ TNBCs varies extensively across studies applying different methods for interrogating samples of interest. To rigorously assess the prevalence of PDJ amplicons in TNBC, its prognostic value and whether it is enriched by chemotherapy, we interrogated 360 TNBC samples including 74 surgical resections from patients treated in the neoadjuvant setting, and tissue microarrays (TMAs) with 31 cases from African American women and 255 resected non-metastatic cases, with a 3 color fluorescence in situ hybridization (FISH) assay targeting the 9p24.1 PDJ amplicon, 9q24.3, and 9q34.1. Samples with mean PDJ signal of > 4.5 copies, and ratios of PDJ/9q24 ≥ 2 and/or PDJ/9q34.1 ≥ 2 were called amplified (PDJ+). Correlative analyses included the association of tumor infiltrating lymphocytes (TILs) with PDJ amplicons in TNBCs. In addition, we investigated intratumor copy number of PDJ amplicons in PDJ+ and PDJ− TNBCs. Matched pre- and post-neoadjuvant treatment biopsies were available from patients (n = 6) to evaluate the effects of therapy on PDJ status. Our study provides a rigorous analysis of the prevalence, distribution, and clinical correlatives of the PDJ amplicon in TNBC.
A novel path towards limiting non-exhaust particulate matter emissions of a commercial friction material through the addition of metallurgical slag
Authors: Jayashree Priyadarshini , Matějka Vlastimil , Leonardi Mara , Straffelini Giovanni 
Published: January 2023

AbstractKeeping recycling and the circular economy in mind, this study explores the reduction in emission of a highly optimized, commercially employed friction material formulation through the addition of metallurgical slags from a basic oxygen furnace in varying quantities from 6 to 38 wt%. The various compositions were paired with a pearlitic grey cast iron counterface and tested on a pin on disc tribometer. The friction coefficient and pin wear increased with the slag addition but were still within the permissible limit when compared to the original formulation. Specimens with higher slag content observed extremely compacted and extended secondary contact plateaus, which also recorded significant slag presence. The extended plateaus detached in the form of chunks from the mating surfaces, which settled on the equipment hardware and restricted the production of airborne particles. From an industrial symbiosis perspective, the addition of metallurgical slags proved to be a promising way of obtaining green friction materials with reduced emissions.
Changes within the central stalk of E. coli F1Fo ATP synthase observed after addition of ATP
Authors: Sobti Meghna , Zeng Yi C. , Walshe James L. , Brown Simon H. J. , Ishmukhametov Robert , Stewart Alastair G. 
Published: January 2023

AbstractF1Fo ATP synthase functions as a biological generator and makes a major contribution to cellular energy production. Proton flow generates rotation in the Fo motor that is transferred to the F1 motor to catalyze ATP production, with flexible F1/Fo coupling required for efficient catalysis. F1Fo ATP synthase can also operate in reverse, hydrolyzing ATP and pumping protons, and in bacteria this function can be regulated by an inhibitory ε subunit. Here we present cryo-EM data showing E. coli F1Fo ATP synthase in different rotational and inhibited sub-states, observed following incubation with 10 mM MgATP. Our structures demonstrate how structural transitions within the inhibitory ε subunit induce torsional movement in the central stalk, thereby enabling its rotation within the Fο motor. This highlights the importance of the central rotor for flexible coupling of the F1 and Fo motors and provides further insight into the regulatory mechanism mediated by subunit ε.
In situfabrication of MIL-68(In)@ZnIn2S4heterojunction for enhanced photocatalytic hydrogen production
Authors: Tan Mengxi , Yu Chengye , Zeng Hua , Liu Chuanbao , Dong Wenjun , Meng Huimin , Su Yanjing , Qiao Lijie , Gao Lei , Lu Qipeng , Bai Yang 
Published: January 2023

The type II heterojunction MIL-68(In)@ZIS with hierarchical loose structure is successfully synthesized byin-situgrowth. The optimized photocatalyst shows an excellent photocatalytic performance of 9.09 mmol g−1h−1 with great stability.
Color-tuning and boosting circularly polarized luminescence performance of axially chiral tetra-BF2complexes by post-modifications
Authors: Cui Luxia , Deyama Koichi , Ichiki Takafumi , Konishi Yuto , Horioka Ami , Harada Takunori , Ishibashi Kohei , Hisaeda Yoshio , Ono Toshikazu 
Published: January 2023

Multicolored fluorescence, high ΦPLreaching 59%, and an efficientglumup to 0.01 with the brightness for circularly polarized luminescence (125.2 M−1 cm−1), were achieved in axially chiral tetra-BF2 complexes by substituent engineering.
Temporal Trends in Clinician-Assessed and Patient-Reported Swallowing Outcomes in Oropharyngeal Cancer Patients
Authors: Kabalan Sarah , Papadopoulos-Nydam Georgina , Jeffery Caroline C. , Rieger Jana , Constantinescu Gabriela 
Published: January 2023

Background:
Dysphagia is a consequence of oropharyngeal squamous cell carcinoma (OPSCC) treatments and often results in a devastating reduction in quality of life (QoL; Nguyen et al., 2005; Pauloski, 2008).

Objectives:
This study aimed to report temporal trends in swallowing outcomes using the Modified Barium Swallow Impairment Profile (MBSImP) and the M.D. Anderson Dysphagia Inventory (MDADI) and to study the relationship between these two measures.

Method:
This was a retrospective review of clinical data collected in January 2013 to December 2017 from a tertiary care center. MBSImP PI scores and MDADI composite scores were collected pretreatment and 1, 6, and 12 months posttreatment. Data were analyzed in aggregate and stratified by treatment modality. To address the primary objective, descriptive statistics were used. To address the secondary objective, four Spearman tests were run between MBSImP PI and MDADI composite scores.

Results:
A total of 123 OPSCC participants were included. With respect to trends, MBSImP PI scores worsened 1 month posttreatment and remained impaired at 6 and 12 months. For MDADI composite scores, patient reports worsened 1 month posttreatment and subsequently improved at 6 and 12 months. MBSImP PI and MDADI composite scores were weakly negatively correlated (i.e., in agreement) at the pre- and 12-month posttreatment appointments.

Conclusions:
Swallowing outcomes in OPSCC patients have distinct yet predictable trends for both clinician-assessed and patient-reported swallowing outcomes during the first year following cancer treatment. However, unlike previous findings, these two types of measures were in agreement at the pretreatment and 12 months posttreatment appointments.
Retracted: Track and field competition data collection using a vision sensor system and machine learning
Authors: Meng Yan , Wu Yunming 
Published: January 2023

AbstractRetraction: [Yan Meng, Yunming Wu, Track and field competition data collection using a vision sensor system and machine learning, IET Software 2023 (https://doi.org/10.1049/sfw2.12086)].The above article from IET Software, published online on 11 January 2023 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the Editor‐in‐Chief, Hana Chockler, the Institution of Engineering and Technology (the IET) and John Wiley and Sons Ltd. This article was published as part of a Guest Edited special issue. Following an investigation, the IET and the journal have determined that the article was not reviewed in line with the journal's peer review standards and there is evidence that the peer review process of the special issue underwent systematic manipulation. Accordingly, we cannot vouch for the integrity or reliability of the content. As such we have taken the decision to retract the article. The authors have been informed of the decision to retract.
Spiral-like features in the disc revealed by Gaia DR3 radial actions
Authors: Palicio P. A. , Recio-Blanco A. , Poggio E. , Antoja T. , McMillan P. J. , Spitoni E. 
Published: January 2023

Context. The so-called action variables are specific functions of the positions and velocities that remain constant along the stellar orbit. The astrometry provided by Gaia Early Data Release 3 (EDR3), combined with the velocities inferred from the Radial Velocity Spectrograph (RVS) spectra of Gaia DR3, allows for the estimation of these actions for the largest volume of stars to date.
Aims. We explore such actions with the aim of locating structures in the Galactic disc.
Methods. We computed the actions and the orbital parameters of the Gaia DR3 stars, assuming an axisymmetric model for the Milky Way. Using Gaia DR3 photometric data, we also selected a subset of giant stars with better astrometry as a control sample.
Results. We find that the maps of the percentiles of the radial action JR reveal arc-like segments. We found a high JR region centered at R ≈ 10.5 kpc of 1 kpc width, as well as three arc-shape regions dominated by circular orbits at inner radii. We also identified the spiral arms in the overdensities of the giant population.
Conclusions. For Galactic coordinates (X, Y, Z), we find good agreement with the literature in the innermost region for the Scutum-Sagittarius spiral arms. At larger radii, the low JR structure tracks the Local arm at negative X, while for the Perseus arm, the agreement is restricted to the X <  2 kpc region, with a displacement with respect to the literature at more negative longitudes. We detected a high JR area at a Galactocentric radii of ∼10.5 kpc, consistent with some estimations of the Outer Lindblad Resonance location. We conclude that the pattern in the dynamics of the old stars is consistent in several places with the spatial distribution of the spiral arms traced by young populations, with small potential contributions from the moving groups.
The CARMENES search for exoplanets around M dwarfs
Authors: Blanco-Pozo J. , Perger M. , Damasso M. , Anglada Escudé G. , Ribas I. , Baroch D. , Caballero J. A. , Cifuentes C. , Jeffers S. V. , Lafarga M. , Kaminski A. , Kaur S. , Nagel E. , Perdelwitz V. , Pérez-Torres M. , Sozzetti A. , Viganò D. , Amado P. J. , Andreuzzi G. , Béjar V. J. S. , Brown E. L. , Del Sordo F. , Dreizler S. , Galadí-Enríquez D. , Hatzes A. P. , Kürster M. , Lanza A. F. , Melis A. , Molinari E. , Montes D. , Murgia M. , Pallé E. , Peña-Moñino L. , Perrodin D. , Pilia M. , Poretti E. , Quirrenbach A. , Reiners A. , Schweitzer A. , Zapatero Osorio M. R. , Zechmeister M. 
Published: January 2023

Context. Detecting a planetary companion in a short-period orbit through radio emission from the interaction with its host star is a new prospect in exoplanet science. Recently, a tantalising signal was found close to the low-mass stellar system GJ 1151 using LOFAR observations.
Aims. We studied spectroscopic time-series data of GJ 1151 in order to search for planetary companions, investigate possible signatures of stellar magnetic activity, and to find possible explanations for the radio signal.
Methods. We used the combined radial velocities measured from spectra acquired with the CARMENES, HARPS-N, and HPF instruments, extracted activity indices from those spectra in order to mitigate the impact of stellar magnetic activity on the data, and performed a detailed analysis of Gaia astrometry and all available photometric time series coming from the MEarth and ASAS-SN surveys.
Results. We found a M > 10.6 M⊕ companion to GJ 1151 in a 390d orbit at a separation of 0.57 au. Evidence for a second modulation is also present; this could be due to long-term magnetic variability or a second (substellar) companion. The star shows episodes of elevated magnetic activity, one of which could be linked to the observed LOFAR radio emission. We show that it is highly unlikely that the detected GJ 1151 c, or any additional outer companion is the source of the detected signal. We cannot firmly rule out the suggested explanation of an undetected short-period planet that could be related to the radio emission, as we establish an upper limit of 1.2 M⊕ for the minimum mass.
Long-Term Proton Pump Inhibitor Therapy and its Effect on Endocrine Hormones in Selected Patient Population
Authors: Ashfaq Muhammad , Khan Qasim , Haroon Muhammad Zeeshan , Abid Syed Mobasher Ali , Sharif Muhammad Junaid Hassan , Alkahraman Yasser MSA 
Published: January 2023

AbstractProton pump inhibitors (PPI) are commonly prescribed medications for a variety of gastrointestinal disorders around the globe. Long-term utilization of proton pump inhibitors is linked with different adverse events. Although, short-term therapy has been demonstrated to have little or no impact on endocrine hormones in men, yet its safety with long-term use has poorly been studied. We aimed to evaluate the impacts of long-term utilization of proton pump inhibitors on male reproductive hormones and its clinical outcomes. A cross-sectional study was performed in two out-patients gastroenterology clinics in Khyber Pakhtunkhwa province. Male patients who were using PPIs regularly for≥3 months were enrolled in this study. Among 65 enrolled participants, patients with sexual complaints have significant variations in mean serum levels of prolactin (p<0.001), sex hormone binding globulins (p=0.043), total testosterone (p<0.001) and progesterone (p=0.001) as compared to patients without sexual complaints. Significantly high values of prolactin mean ranks were observed in patient with sexual complaints (p<0.001). There were statistically significant correlations of serum levels of sex hormone binding globulins (p=0.003), total testosterone (p=0.008) and progesterone (p<0.001) with serum prolactin levels. Similarly, statistically significant variation was observed for decreased libido (p=0.001), erectile dysfunction (p=0.001) and decreased semen mass ((p<0.001) between normal and hyperprolactinemic PPI users. Highly significant differences were observed in serum sex hormone binding globulins (p<0.001), total testosterone (p<0.001) and progesterone (p<0.001) values in normal and hyperprolactinemic groups. In conclusion, long-term utilization of PPI may induce endocrine hormone disruption with subsequent sexual complications.
The Application of Dental Fluoride Varnish in Children: A Low Cost, High-Value Implementation Aided by Passive Clinical Decision Support
Authors: Lukac Paul J. , Bell Douglas , Sreedharan Priya , Gornbein Jeffrey A. , Lerner Carlos 
Published: January 2023

Abstract
Background Fluoride is vital in the prevention of dental caries in children. In 2014, the U.S. Preventive Services Task Force deemed fluoride varnish a recommended preventive service (grade B). Electronic health record-based clinical decision support (CDS) tools have shown variable ability to alter physicians' ordering behaviors.
Objectives This study aimed to increase the application of fluoride varnish in children while analyzing the effect of two passive CDS tools—an order set and a note template.
Methods Data on outpatient pediatric visits over an 18-month period before and after CDS implementation (October 15, 2020–April 15, 2022) were queried, while trends in application rate of fluoride were examined. We constructed a multiple logistic regression model with a primary outcome of whether a patient received fluoride at his/her visit. The primary predictor was a “phase” variable representing the CDS implemented. Physician interaction with CDS as well as the financial effects of the resulting service use were also examined.
Results There were 3,049 well-child visits of children aged 12 months to 5 years. The addition of a fluoride order to a “Well Child Check” order set led to a 10.6% increase in ordering over physician education alone (25.4 vs. 14.8%, p = 0.001), while the insertion of fluoride-specific text to drop-down lists in clinical notes led to a 6.2% increase (31.5 vs. 25.4%, p = 0.005). Whether a patient received topical fluoride was positively associated with order set implementation (odds ratio [OR] = 5.87, 95% confidence interval [CI]: 4.20–8.21) and fluoride-specific drop-down lists (OR = 7.81, 95% CI: 5.41–11.28). Female providers were more likely to use order sets when ordering fluoride (56.2 vs. 40.9% for males, p ≤ 0.0001). Added revenue totaled $15,084.
Conclusion The targeted use of order sets and note templates was positively associated with the ordering of topical fluoride by physicians.
Causal Associations Between Cardiovascular Risk Factors and Venous Thromboembolism
Authors: Hu Mengjin , Li Xiaosong , Yang Yuejin 
Published: January 2023

Abstract
Objective The aim of the study is to assess the causal effects of cardiovascular risk factors on venous thromboembolism (VTE) and its subtypes including deep vein thrombosis (DVT) and pulmonary embolism (PE).
Methods A summary-level Mendelian randomization (MR) analysis was performed by extracting data from public and large-scale genome-wide association studies for cardiovascular risk factors (hypertension, systolic blood pressure [SBP], diastolic blood pressure [DBP], total cholesterol, triglycerides, high-density lipoprotein [HDL], low-density lipoprotein [LDL], type 2 diabetes, fasting glucose, body mass index [BMI], smoking, alcohol, and physical activity), VTE, DVT, and PE to identify genetic instruments.
Results BMI (per standard deviation [SD] increase; odds ratio [OR]: 1.39; 95% confidence interval [CI]: 1.25–1.54; p = 8.02 × 10−10) could increase the VTE risk, whereas SBP (per SD increase; OR: 0.99; 95% CI: 0.98–0.99; p = 0.0005) could decrease the VTE risk. For DVT, BMI (per SD increase; OR: 1.48; 95% CI: 1.28–1.72; p = 1.53 × 10−7) could increase the risk, whereas physical activity (per SD increase; OR: 0.05; 95% CI: 0.01–0.33; p = 0.0020) could decrease the risk. For PE, BMI (per SD increase; OR: 1.29; 95% CI: 1.12–1.49; p = 0.0005) could increase the risk, whereas SBP (per SD increase; OR: 0.99; 95% CI: 0.98–1.00; p = 0.0032) could decrease the risk. Suggestive evidence between smoking and higher risks of VTE and DVT was also observed.
Conclusion Our study supports that BMI is a causal risk factor for VTE, DVT, and PE. SBP is a protective factor for VTE and PE. Physical activity is a protective factor for DVT. However, the effects of other cardiovascular risk factors are not identified.