bluuebunny/crossref_metadata_2025_split huggingface dataset:
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Authors: Baxter Laura L. , Watkins-Chow Dawn E. , Johnson Nicholas L. , Farhat Nicole Y. , Platt Frances M. , Dale Ryan K. , Porter Forbes D. , Pavan William J. , Rodriguez-Gil Jorge L. 
Published: February 2022

AbstractNiemann–Pick disease type C1 (NPC1) is a rare, prematurely fatal lysosomal storage disorder which exhibits highly variable severity and disease progression as well as a wide-ranging age of onset, from perinatal stages to adulthood. This heterogeneity has made it difficult to obtain prompt diagnosis and to predict disease course. In addition, small NPC1 patient sample sizes have been a limiting factor in acquiring genome-wide transcriptome data. In this study, primary fibroblasts from an extensive cohort of 41 NPC1 patients were used to validate our previous findings that the lysosomal quantitative probe LysoTracker can be used as a predictor for age of onset and disease severity. We also examined the correlation between these clinical parameters and RNA expression data from primary fibroblasts and identified a set of genes that were significantly associated with lysosomal defects or age of onset, in particular neurological symptom onset. Hierarchical clustering showed that these genes exhibited distinct expression patterns among patient subgroups. This study is the first to collect transcriptomic data on such a large scale in correlation with clinical and cellular phenotypes, providing a rich genomic resource to address NPC1 clinical heterogeneity and discover potential biomarkers, disease modifiers, or therapeutic targets.
Detection and identification of tea leaf diseases based on AX-RetinaNet
Authors: Bao Wenxia , Fan Tao , Hu Gensheng , Liang Dong , Li Haidong 
Published: February 2022

AbstractThe accurate detection and identification of tea leaf diseases are conducive to its precise prevention and control. Convolutional neural network (CNN) can automatically extract the features of diseased tea leaves in the images. However, tea leaf images taken in natural environments have problems, such as complex backgrounds, dense leaves, and large-scale changes. The existing CNNs have low accuracy in detecting and identifying tea leaf diseases. This study proposes an improved RetinaNet target detection and identification network, AX-RetinaNet, which is used for the automatic detection and identification of tea leaf diseases in natural scene images. AX-RetinaNet uses an improved multiscale feature fusion module of the X-module and adds a channel attention module, Attention. The feature fusion module of the X-module obtains feature maps with rich information through multiple fusions of multi-scale features. The attention module assigns a network adaptively optimized weight to each feature map channel so that the network can select more effective features and reduce the interference of redundant features. This study also uses data augmentation methods to solve the problem of insufficient samples. Experimental results show the detection and identification accuracy of AX-RetinaNet for tea leaf diseases in natural scene images is better than the existing target detection and identification networks, such as SSD, RetinaNet, YOLO-v3, YOLO-v4, Centernet, M2det, and EfficientNet. The AX-RetinaNet detection and identification results indicated the mAP value of 93.83% and the F1-score value of 0.954. Compared with the original network, the mAP value, recall value, and identification accuracy increased by nearly 4%, by 4%, and by nearly 1.5%, respectively.
Maternal HPV-antibodies and seroconversion to HPV in children during the first 3 years of life
Authors: Syrjänen Stina , Waterboer Tim , Rintala Marjut , Pawlita Michael , Syrjänen Kari , Louvanto Karolina , Grenman Seija 
Published: February 2022

AbstractTo assess the dynamics of human papillomavirus (HPV) serology, we analyzed HPV6-,11-,16-,18-, and 45 antibodies in infants during the first 36 months of their life. Serial serum samples of 276/327 mother–child pairs were collected at baseline (mothers) and at months 1, 2, 6, 12, 24 and 36 (offspring), and tested for HPVL1-antibodies using the GST-L1 assay. Concordance between maternal and infant HPV-antibody levels remained high until month-6 (p <  = 0.001), indicating maternal antibody transfer. At 1 month, 40–62% of the infants tested seropositive to any of the 5 HPV-types. Between 1–3 years of age, 53% (58/109) of the children born to HPV-seronegative mothers tested HPV-seropositive. Times to positive seroconversion varied between13.4 and 18.7 months, and times to negative seroconversion (decay) between 8.5 and 9.9 months. Significant independent predictors of infants’ seroconversion to LR-HPV were hand warts and mother’s history of oral warts and seroconversion to LR-HPV. No predictors of seroconversion to HR-HPV were identified. Maternal HPV-IgG-antibodies are transferred to her offspring and remain detectable for 6 months, corroborating the IgG molecule’s half-life. Seroconversion to HPV-genotypes 6, 11, 16 and 18 was confirmed among children born to HPV-seronegative mothers, implicating an immune response to these HPV-genotypes during early infancy.
Cryo-EM structure of transcription termination factor Rho from Mycobacterium tuberculosis reveals bicyclomycin resistance mechanism
Authors: Saridakis Emmanuel , Vishwakarma Rishi , Lai-Kee-Him Josephine , Martin Kevin , Simon Isabelle , Cohen-Gonsaud Martin , Coste Franck , Bron Patrick , Margeat Emmanuel , Boudvillain Marc 
Published: February 2022

AbstractThe bacterial Rho factor is a ring-shaped motor triggering genome-wide transcription termination and R-loop dissociation. Rho is essential in many species, including in Mycobacterium tuberculosis where rho gene inactivation leads to rapid death. Yet, the M. tuberculosis Rho [MtbRho] factor displays poor NTPase and helicase activities, and resistance to the natural Rho inhibitor bicyclomycin [BCM] that remain unexplained. To address these issues, we solved the cryo-EM structure of MtbRho at 3.3 Å resolution. The MtbRho hexamer is poised into a pre-catalytic, open-ring state wherein specific contacts stabilize ATP in intersubunit ATPase pockets, thereby explaining the cofactor preference of MtbRho. We reveal a leucine-to-methionine substitution that creates a steric bulk in BCM binding cavities near the positions of ATP γ-phosphates, and confers resistance to BCM at the expense of motor efficiency. Our work contributes to explain the unusual features of MtbRho and provides a framework for future antibiotic development.
Observation of chiral solitons in LiCuVO4
Authors: Grams Christoph P. , Brüning Daniel , Kopatz Severin , Lorenz Thomas , Becker Petra , Bohatý Ladislav , Hemberger Joachim 
Published: February 2022

AbstractQuantum spin liquids represent a magnetic ground state arising in the presence of strong quantum fluctuations that preclude ordering down to zero temperature and leave clear fingerprints in the excitation spectra. While theory bears a variety of possible quantum spin liquid phases their experimental realization is still scarce. Here, we report experimental evidence for chiral solitons in the S = 1/2 spin chain compound LiCuVO4 from measurements of the complex permittivity ε* in the GHz range. In zero magnetic field our results show short-lived thermally activated chiral fluctuations above the multiferroic phase transition at TN = 2.4 K. In ε* these fluctuations are seen as the slowing down of a relaxation with a critical dynamical exponent νξz ≈ 1.3 in agreement with mean-field predictions. When using a magnetic field to suppress TN towards 0 K the influence of quantum fluctuations increases until the thermally activated fluctuations vanish and only an excitation can be observed in the dielectric response in close proximity to the phase transition below 400 mK. From direct measurements we find this excitation’s energy gap as ESE ≈ 14.1 μeV, which is in agreement with a nearly gapless chiral soliton that has been proposed for LiCuVO4 based on quantum spin liquid theory.
Geschlechtsspezifische Unterschiede bei koronarer
Herzerkrankung
Authors: Ott Ilka 
Published: February 2022

ZusammenfassungDie koronare Herzerkrankung ist die häufigste Herzerkrankung bei Frauen und Männern.
Geschlechtsspezifische Unterschiede in der Symptomatik, der Prognose und der Behandlung
bei Patienten mit koronarer Herzerkrankung wurden bereits in zahlreichen Studien
untersucht. Frauen sind älter, besitzen mehr Komorbiditäten, beklagen eher atypische
Symptome, suchen später ärztliche Hilfe auf und werden weniger leitliniengerecht
behandelt. In dem Artikel sollen geschlechtsspezifische Unterschiede bei Patienten mit
akutem und chronischem Koronarsyndrom zusammengefasst werden.
Perceptions of a Virtual Visiting Ophthalmology Elective in the COVID-19 Era
Authors: Onyekaba Ndidi-Amaka E. , Rosdahl Jullia A. 
Published: February 2022

Abstract
Background The coronavirus disease 2019 (COVID-19) pandemic was a disruption for all aspects of medical education, especially for clinical students preparing for residency applications. Clinical rotations are essential for a student's specialty choice, especially for subspecialties such as ophthalmology where students may not get significant exposure during preclinical years. The cancellation of home and visiting ophthalmology electives due to the pandemic brought a need for newer, innovative ideas of instruction.
Methods A 4-week not-for-credit virtual elective was developed at the Department of Ophthalmology for visiting medical students and was offered from August to October 2020. Visiting fourth-year medical students were paired with faculty and resident mentors for one-on-one virtual mentoring, in addition to participation in departmental conferences and research opportunities. Surveys were distributed to students and mentors, and results were analyzed using Microsoft Excel and GraphPad Prism 9.
Results A total of 12 visiting fourth-year medical students participated in the virtual elective, 67% of whom did not have a home ophthalmology program. There was a significant increase in students' perception of their ophthalmology knowledge, with all of students reporting that the elective contributed to this. Students (100%) were “very satisfied” with their faculty mentors on a five-point Likert scale, with high satisfaction from faculty and resident mentors toward students also. The two required events in the elective, the journal club and case virtual conferences, were highly rated from students and mentors.
Conclusion The virtual ophthalmology elective, which was developed to address medical education gaps due to the COVID-19 pandemic, was favorably viewed by all who participated. As dedicated ophthalmology instruction time has decreased over the years, it may become increasingly more important to turn to virtual resources for ophthalmology instruction and mentorship.
Preventing Uterine Cervix Cancer: The Clinical Meaning of Atypical Glandular Cells
Authors: Almeida Gutemberg , Sainz Jorge Eduardo , Fonseca Renata , Chaves Neil , Silva Katia Silveira , Nunes Julio , Furtado Yara 
Published: February 2022

Abstract
Objective To determine the prevalence of the atypical glandular cells (AGCs) cytology and to analyze its clinical significance in different age ranges.
Methods Retrospective observational study using computerized data from the Brazilian National Cancer Institute, including women screened between January 2002 and December 2008. The women included were those with an AGC result who were properly followed-up with colposcopy and a second cytology.
Results A total of 132,147 cytopathological exams were performed during the study period. Five-hundred and thirty-three (0.4%) women with AGC cytology were identified and, of these, 69.41% (370/533) were properly referred for colposcopy and a new cytology. Most of the women (79.2%) with a 1st or 2nd AGC cytology were between the ages of 25 and 54 years. The 2nd cytology demonstrated 67.6% (250/370) of normality, 24.5% (91/370) of squamous atypia, and 6.2% (23/370) of AGC, 0.8% (3/370) adenocarcinoma in situ and 0.8% (3/370) adenocarcinoma invasor. On biopsy of the women with a second AGC cytology, 43.4% (10/23) had normal histology, 43.4% (10/23) had squamous lesions, 8.7% (2/23) had invasive adenocarcinoma, and 1.2% (1/23) had an inconclusive report. All of the women with high-grade squamous intraepithelial lesion (HSIL) or invasive adenocarcinoma (respectively 5 and 2 patients), after a 2nd AGC cytology were 25 years old or older.
Conclusion The prevalence of the AGC cytology was low in the studied population. Most of the AGC cytology cases occurred in adult women between the ages of 25 and 54. Although most of the patients had normal histology after follow-up, several of them presented with squamous intraepithelial lesions or invasive adenocarcinoma.
Perioperative Outcomes in Pregnant Women Who Underwent Surgery for Adnexal Torsion
Authors: Ekici Huseyin , Okmen Fırat , Imamoglu Metehan , Hortu Ismet , Akdemir Ali 
Published: February 2022

Abstract
Objective To evaluate clinical characteristics, maternal and fetal outcomes in pregnant women who underwent surgery for adnexal torsion (AT).
Methods All patients, who underwent surgical operation due to AT during pregnancy at the Department of Obstetrics and Gynecology, School of Medicine, Ege University between 2005 and 2020 were retrospectively investigated. Main clinical and perioperative outcomes were evaluated.
Results A total of 21 patients who underwent surgery due to AT during pregnancy were included. Of all patients, 61.9% underwent laparoscopy and the remaining 38.1% underwent laparotomy. The most common surgical procedure was adnexal detorsion in both groups (48%). Mean gestational age at the time of diagnosis, duration of surgery and hospitalization were significantly lower in the laparoscopy group, when compared with the laparotomy group (p = 0.006, p = 0.001, and p = 0.001, respectively.) One of the patients had an infection during the postoperative period. Spontaneous abortion was only observed in one case.
Conclusion It can be concluded that the surgical intervention implemented for the exact diagnosis and treatment of AT (laparotomy or laparoscopy) did not have an unfavorable effect on pregnancy outcomes such as abortion, preterm delivery, and fetal anomaly. However, laparoscopy may be superior to laparotomy in terms of advantages.
Human-machine-learning integration and task allocation in citizen science
Authors: Ponti Marisa , Seredko Alena 
Published: February 2022

AbstractThe field of citizen science involves the participation of citizens across different stages of a scientific project; within this field there is currently a rapid expansion of the integration of humans and AI computational technologies based on machine learning and/or neural networking-based paradigms. The distribution of tasks between citizens (“the crowd”), experts, and this type of technologies has received relatively little attention. To illustrate the current state of task allocation in citizen science projects that integrate humans and computational technologies, an integrative literature review of 50 peer-reviewed papers was conducted. A framework was used for characterizing citizen science projects based on two main dimensions: (a) the nature of the task outsourced to the crowd, and (b) the skills required by the crowd to perform a task. The framework was extended to include tasks performed by experts and AI computational technologies as well. Most of the tasks citizens do in the reported projects are well-structured, involve little interdependence, and require skills prevalent among the general population. The work of experts is typically structured and at a higher-level of interdependence than that of citizens, requiring expertize in specific fields. Unsurprisingly, AI computational technologies are capable of performing mostly well-structured tasks at a high-level of interdependence. It is argued that the distribution of tasks that results from the combination of computation and citizen science may disincentivize certain volunteer groups. Assigning tasks in a meaningful way to citizen scientists alongside experts and AI computational technologies is an unavoidable design challenge.
Photon subtraction-based continuous-variable measurement-device-independent quantum key distribution with discrete modulation over a fiber-to-water channel
Authors: Yu Chao , Li Yin , Ding Jianzhi , Mao Yun , Guo Ying 
Published: February 2022

Abstract
We propose a discrete-modulated continuous-variable measurement-device-independent quantum key distribution protocol over a fiber-to-water channel. Different from optical fibers, the underwater channel has more severe optical attenuation because of optical absorption and scattering, which reduces the maximum communication distance. To enhance the performance of the protocol, the photon subtraction operation is implemented at the modulator side. We carry out a performance simulation in two different kinds of seawater channel, and the result shows that the scheme with photon subtraction has a longer secure communication distance under certain conditions.
Ultrafast ytterbium-doped all-fiber laser with vortex pulse emissions
Authors: Zhang Zhicheng , Wang Sha , Hu Xingwen , Wang Bangguo , Wang Jun 
Published: February 2022

Abstract
Ultrafast vortex pulses emitted at 1 μm band are highly sought after in many fields, here we propose an all-fiber laser for achieving that. The designed laser is switchable to emit ultrafast orbital angular momentum (OAM) and cylindrical vector beams. The beam purities are calculated to be higher than 94%. Moreover, the as-designed laser can achieve ultrafast pulse with a duration of 10.4 ps and maximum energy of 619.3 pJ. Generally, it is the shortest width and largest energy of OAM emission in ultrafast ytterbium-doped all-fiber laser so far.
High rate capability studies of triple-GEM detectors for the ME0 upgrade of the CMS muon spectrometer
Authors: Bianco M. , Fallavollita F. , Fiorina F. , Maggi M. , Pellecchia A. , Ramirez Garcia L.F. , Rosi N. , Verwilligen P. 
Published: February 2022

Abstract
The high-luminosity LHC (HL-LHC) upgrade is presenting new challenges for particle detector technologies. In the CMS muon system gaseous detectors, the increase in luminosity will produce a particle background ten times higher than at the LHC. To cope with the high rate environment and maintain current performance, the triple-gas electron multiplier technology is a promising candidate for high-rate capable detectors for the CMS-ME0 upgrade project in the innermost region of the forward muon spectrometer of the CMS experiment. An intense R&D and prototyping phase is currently ongoing to prove that such technology meets the stringent performance requirements of highly efficient particle detection in the harsh background environment expected in the innermost ME0 region. Here, we describe the recent rate capability studies of triple-GEM detectors operated with an Ar/CO2 (70/30) gas mixture at an effective gas gain of 2 × 104 by using a high intensity 22 keV X-ray generator. Moreover, we present a novel foil design based on double-sided segmented GEM-foils, high voltage power distribution and filtering, which the CMS muon collaboration adopted for realization of the CMS-ME0 project, and their impact on the performance of the detector in the light of new rate capability studies, with a summary of the ongoing R&D activities.
Seasonal forecasts of Eurasian summer heat wave frequency
Authors: Zhang Rui Zhi , Jia Xiao Jing , Qian Qi Feng 
Published: February 2022

Abstract
Heat wave events usually cause disastrous consequences on human life, economy, environment, and ecosystem. However, current climate models usually perform poorly in forecasting heat wave events. In the current work, we identified that the leading mode of the summer (June-July-August) heat wave frequency (HWF) over the Eurasian continent (HWF_EC) is a continental-scale pattern. Two machine learning (ML) models are constructed and used to perform seasonal forecast experiments for the summer HWF_EC. The potential predictive sources for the HWF_EC are chosen from the fields related to the lower boundary conditions of the atmosphere, i.e., the sea surface temperature, snow cover, soil moisture and sea ice. The specific regions and months of these lower boundary condition fields selected to construct the potential predictors are those that are persistently and significantly correlated with the variation in the HWF_EC preceding the summer. The ML forecasting models are trained with data from the period 1980–2009 and then used to perform real seasonal forecasts for the summer HWF_EC for 2010–2019. The results show that the ML forecasting models have reasonably good skills in predicting the HWF_EC over high HWF regions. The two ML models show obviously better skill in the forecasting experiments than a traditional linear regression model, suggesting that the ML models may provide an additional and useful tool for forecasting the summer HWF_EC.
Validation of Ideal Breast Characteristics With Breast Augmentation Patients
Authors: Kelly Jason D , Comstock Bryan , Shauly Orr , Smartt James M , Gould Daniel J 
Published: February 2022

AbstractBackgroundBreast augmentation procedures are one of the most commonly performed aesthetic procedures in the United States. Little work has focused on the general public’s overall perception of the ideal breast or has validated them with patient photographs.ObjectivesTo validate crowdsourced perceptions of breasts with their alignment to the aesthetics of breast augmentation patients.MethodsA prospective cross-sectional study was performed using participants enrolled through the AmazonMechanical Turk crowdsourcing platform (Amazon Web Services, Amazon, Seattle, WA) to obtain participant opinions ofhow closely patient breasts aligned with previously obtained results of 4 ideal breast characteristics. Outcomes were reported based on the correlation between breast attractiveness and alignment to ideal breast characteristics, both before and after breast implant procedures.Results2306 responses from 737 participants reported patient photograph alignment with ideal breast projection proportion (1.0) as having the highest correlation to opinions of heightened aesthetic beauty (R = 0.98, P &lt; 0.001), and ideal nipple direction (front) as having the lowest correlation to aesthetic beauty (R = 0.90, P &lt; 0.001). Younger age groups (18-24) and participants with a high school diploma or less rated patients as less attractive, while married and wealthy individuals reported higher attraction levels.ConclusionsCrowdsourcing can be a useful tool for aesthetic surgery preferences and has helped reveal key takeaways. The importance of the 4 breast characteristics has been validated, with alignment to all 4 characteristics tested having a high correlation to preferences. Differences in preference across demographic groups are a topic to further investigate.