bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fertility Discussions: Perspectives of Adolescents and Young Adults With Differences of Sex Development
Authors: Papadakis Jaclyn L. , Poquiz Jonathan L. , Buchanan Cindy L. , Chan Yee-Ming , Crerand Canice E. , Hansen-Moore Jennifer , Kapa Hillary M. , Nahata Leena , Pratt Keeley J. , Tishelman Amy C. , Chen Diane 
Published: December 2020

Objective: Fertility-related health care and decision-making needs for youth with differences of sex development (DSD) are complex and vary by condition and the values and preferences of each individual and their partner and/or family. Discussing fertility implications can be a challenging aspect of clinician and family communication about a DSD diagnosis. This qualitative study assesses fertility-related communication experiences of adolescents and young adults (AYA) with DSD. Method: Participants included 97 AYA with DSD ages 12–26 years ( M = 18.5, SD = 3.9) who completed questionnaires on demographic and medical information and patient–clinician communication. A subsample of 33 AYA also completed semistructured interviews about experiences with fertility discussions. Results: Two major themes, each with subthemes, were identified: (1) understanding of fertility related to (1a) one’s own fertility status, (1b) reproductive and parenting options, and (1c) emotional reactions to one’s own fertility status and (2) conversations about fertility related to (2a) reflections on conversations, (2b) barriers, and (2c) advice. Conclusions: AYA perspectives in this study provide important information about how youth with DSD learn about their fertility status, the impact their fertility status has on them, and the fertility-related conversations they have with their providers and families. Specific recommendations for providers and parents or caregivers include the following: inform youth of their fertility status as early as possible; be direct but patient in delivering information; begin by giving basic information and provide more detail as the conversation unfolds; revisit the conversation over time to allow for further discussion or information-seeking; offer additional information or resources, including behavioral health resources. Implications for Impact Statement Fertility-related health care needs for youth with differences of sex development (DSD) are complex and vary by condition and individual preferences. This qualitative study assesses fertility-related communication experiences of adolescents and young adults with DSD. Findings have important clinical implications for how health care providers and families can effectively communicate about fertility.
CXCR4 in Waldenström’s Macroglobulinema: chances and challenges
Authors: Kaiser Lisa Marie , Hunter Zachary R. , Treon Steven P. , Buske Christian 
Published: December 2020

AbstractIt is one of the major aims in cancer research to improve our understanding of the underlying mechanisms which initiate and maintain tumor growth and to translate these findings into novel clinical diagnostic and therapeutic concepts with the ultimate goal to improve patient care. One of the greater success stories in this respect has been Waldenström’s Macroglobulinemia (WM), which is an incurable B-cell neoplasm characterized by serum monoclonal immunoglobulin M (IgM) and clonal lymphoplasmacytic cells infiltrating the bone marrow. Recent years have succeeded to describe the molecular landscape of WM in detail, highlighting two recurrently mutated genes, theMYD88and theCXCR4genes:MYD88with an almost constant and recurrent point mutation present in over 90% of patients andCXCR4with over 40 different mutations in the coding region affecting up to 40% of patients. Intriguingly, both mutations are activating mutations leading in the case of CXCR4 to an indelible activation and perpetual signaling of the chemokine receptor. These data have shed light on the essential role of CXCR4 in this disease and have paved the way to use these findings for predicting treatment response to the Bruton tyrosine kinase (BTK) inhibitor ibrutinib and novel therapeutic approaches in WM, which might be transferable to other related CXCR4 positive diseases. Well known for its central role in cancer progression and distribution, CXCR4 is highlighted in this review with regard to its biology, prognostic and predictive relevance and therapeutic implications in WM.
Genetically encoded sensors enable micro- and nano-scopic decoding of transmission in healthy and diseased brains
Authors: Lin Li , Gupta Smriti , Zheng W. Sharon , Si Ke , Zhu J. Julius 
Published: December 2020

AbstractNeural communication orchestrates a variety of behaviors, yet despite impressive effort, delineating transmission properties of neuromodulatory communication remains a daunting task due to limitations of available monitoring tools. Recently developed genetically encoded neurotransmitter sensors, when combined with superresolution and deconvolution microscopic techniques, enable the first micro- and nano-scopic visualization of neuromodulatory transmission. Here we introduce this image analysis method by presenting its biophysical foundation, practical solutions, biological validation, and broad applicability. The presentation illustrates how the method resolves fundamental synaptic properties of neuromodulatory transmission, and the new data unveil unexpected fine control and precision of rodent and human neuromodulation. The findings raise the prospect of rapid advances in the understanding of neuromodulatory transmission essential for resolving the physiology or pathogenesis of various behaviors and diseases.
CD147-spike protein is a novel route for SARS-CoV-2 infection to host cells
Authors: Wang Ke , Chen Wei , Zhang Zheng , Deng Yongqiang , Lian Jian-Qi , Du Peng , Wei Ding , Zhang Yang , Sun Xiu-Xuan , Gong Li , Yang Xu , He Lei , Zhang Lei , Yang Zhiwei , Geng Jie-Jie , Chen Ruo , Zhang Hai , Wang Bin , Zhu Yu-Meng , Nan Gang , Jiang Jian-Li , Li Ling , Wu Jiao , Lin Peng , Huang Wan , Xie Liangzhi , Zheng Zhao-Hui , Zhang Kui , Miao Jin-Lin , Cui Hong-Yong , Huang Min , Zhang Jun , Fu Ling , Yang Xiang-Min , Zhao Zhongpeng , Sun Shihui , Gu Hongjing , Wang Zhe , Wang Chun-Fu , Lu Yacheng , Liu Ying-Ying , Wang Qing-Yi , Bian Huijie , Zhu Ping , Chen Zhi-Nan 
Published: December 2020

AbstractIn face of the everlasting battle toward COVID-19 and the rapid evolution of SARS-CoV-2, no specific and effective drugs for treating this disease have been reported until today. Angiotensin-converting enzyme 2 (ACE2), a receptor of SARS-CoV-2, mediates the virus infection by binding to spike protein. Although ACE2 is expressed in the lung, kidney, and intestine, its expressing levels are rather low, especially in the lung. Considering the great infectivity of COVID-19, we speculate that SARS-CoV-2 may depend on other routes to facilitate its infection. Here, we first discover an interaction between host cell receptor CD147 and SARS-CoV-2 spike protein. The loss of CD147 or blocking CD147 in Vero E6 and BEAS-2B cell lines by anti-CD147 antibody, Meplazumab, inhibits SARS-CoV-2 amplification. Expression of human CD147 allows virus entry into non-susceptible BHK-21 cells, which can be neutralized by CD147 extracellular fragment. Viral loads are detectable in the lungs of human CD147 (hCD147) mice infected with SARS-CoV-2, but not in those of virus-infected wild type mice. Interestingly, virions are observed in lymphocytes of lung tissue from a COVID-19 patient. Human T cells with a property of ACE2 natural deficiency can be infected with SARS-CoV-2 pseudovirus in a dose-dependent manner, which is specifically inhibited by Meplazumab. Furthermore, CD147 mediates virus entering host cells by endocytosis. Together, our study reveals a novel virus entry route, CD147-spike protein, which provides an important target for developing specific and effective drug against COVID-19.
Deciphering functional redundancy in the human microbiome
Authors: Tian Liang , Wang Xu-Wen , Wu Ang-Kun , Fan Yuhang , Friedman Jonathan , Dahlin Amber , Waldor Matthew K. , Weinstock George M. , Weiss Scott T. , Liu Yang-Yu 
Published: December 2020

AbstractAlthough the taxonomic composition of the human microbiome varies tremendously across individuals, its gene composition or functional capacity is highly conserved — implying an ecological property known as functional redundancy. Such functional redundancy has been hypothesized to underlie the stability and resilience of the human microbiome, but this hypothesis has never been quantitatively tested. The origin of functional redundancy is still elusive. Here, we investigate the basis for functional redundancy in the human microbiome by analyzing its genomic content network — a bipartite graph that links microbes to the genes in their genomes. We find that this network exhibits several topological features that favor high functional redundancy. Furthermore, we develop a simple genome evolution model to generate genomic content network, finding that moderate selection pressure and high horizontal gene transfer rate are necessary to generate genomic content networks with key topological features that favor high functional redundancy. Finally, we analyze data from two published studies of fecal microbiota transplantation (FMT), finding that high functional redundancy of the recipient’s pre-FMT microbiota raises barriers to donor microbiota engraftment. This work elucidates the potential ecological and evolutionary processes that create and maintain functional redundancy in the human microbiome and contribute to its resilience.
Pervasive subduction zone devolatilization recycles CO2 into the forearc
Authors: Stewart E. M. , Ague Jay J. 
Published: December 2020

AbstractThe fate of subducted CO2remains the subject of widespread disagreement, with different models predicting either wholesale (up to 99%) decarbonation of the subducting slab or extremely limited carbon loss and, consequently, massive deep subduction of CO2. The fluid history of subducted rocks lies at the heart of this debate: rocks that experience significant infiltration by a water-bearing fluid may release orders of magnitude more CO2than rocks that are metamorphosed in a closed chemical system. Numerical models make a wide range of predictions regarding water mobility, and further progress has been limited by a lack of direct observations. Here we present a comprehensive field-based study of decarbonation efficiency in a subducting slab (Cyclades, Greece), and show that ~40% to ~65% of the CO2in subducting crust is released via metamorphic decarbonation reactions at forearc depths. This result precludes extensive deep subduction of most CO2and suggests that the mantle has become more depleted in carbon over geologic time.
Evolution of the potassium channel gene Kcnj13 underlies colour pattern diversification in Danio fish
Authors: Podobnik Marco , Frohnhöfer Hans Georg , Dooley Christopher M. , Eskova Anastasia , Nüsslein-Volhard Christiane , Irion Uwe 
Published: December 2020

AbstractThe genetic basis of morphological variation provides a major topic in evolutionary developmental biology. Fish of the genusDaniodisplay colour patterns ranging from horizontal stripes, to vertical bars or spots. Stripe formation in zebrafish,Danio rerio, is a self-organizing process based on cell−contact mediated interactions between three types of chromatophores with a leading role of iridophores. Here we investigate genes known to regulate chromatophore interactions in zebrafish that might have evolved to produce a pattern of vertical bars in its sibling species,Danio aesculapii. MutantD. aesculapiiindicate a lower complexity in chromatophore interactions and a minor role of iridophores in patterning. Reciprocal hemizygosity tests identify the potassium channel geneobelix/Kcnj13as evolved between the two species. Complementation tests suggest evolutionary change through divergence inKcnj13function in two additionalDaniospecies. Thus, our results point towards repeated and independent evolution of this gene during colour pattern diversification.
Nonlinear mechanics of lamin filaments and the meshwork topology build an emergent nuclear lamina
Authors: Sapra K. Tanuj , Qin Zhao , Dubrovsky-Gaupp Anna , Aebi Ueli , Müller Daniel J. , Buehler Markus J. , Medalia Ohad 
Published: December 2020

AbstractThe nuclear lamina—a meshwork of intermediate filaments termed lamins—is primarily responsible for the mechanical stability of the nucleus in multicellular organisms. However, structural-mechanical characterization of lamin filaments assembled in situ remains elusive. Here, we apply an integrative approach combining atomic force microscopy, cryo-electron tomography, network analysis, and molecular dynamics simulations to directly measure the mechanical response of single lamin filaments in three-dimensional meshwork. Endogenous lamin filaments portray non-Hookean behavior – they deform reversibly at a few hundred picoNewtons and stiffen at nanoNewton forces. The filaments are extensible, strong and tough similar to natural silk and superior to the synthetic polymer Kevlar®. Graph theory analysis shows that the lamin meshwork is not a random arrangement of filaments but exhibits small-world properties. Our results suggest that lamin filaments arrange to form an emergent meshwork whose topology dictates the mechanical properties of individual filaments. The quantitative insights imply a role of meshwork topology in laminopathies.
Longitudinal symptom dynamics of COVID-19 infection
Authors: Mizrahi Barak , Shilo Smadar , Rossman Hagai , Kalkstein Nir , Marcus Karni , Barer Yael , Keshet Ayya , Shamir-Stein Na’ama , Shalev Varda , Zohar Anat Ekka , Chodick Gabriel , Segal Eran 
Published: December 2020

AbstractAs the COVID-19 pandemic progresses, obtaining information on symptoms dynamics is of essence. Here, we extracted data from primary-care electronic health records and nationwide distributed surveys to assess the longitudinal dynamics of symptoms prior to and throughout SARS-CoV-2 infection. Information was available for 206,377 individuals, including 2471 positive cases. The two datasources were discordant, with survey data capturing most of the symptoms more sensitively. The most prevalent symptoms included fever, cough and fatigue. Loss of taste and smell 3 weeks prior to testing, either self-reported or recorded by physicians, were the most discriminative symptoms for COVID-19. Additional discriminative symptoms included self-reported headache and fatigue and a documentation of syncope, rhinorrhea and fever. Children had a significantly shorter disease duration. Several symptoms were reported weeks after recovery. By a unique integration of two datasources, our study shed light on the longitudinal course of symptoms experienced by cases in primary care.
Novel kind of decagonal ordering in Al74Cr15Fe11
Authors: Ma Haikun , He Zhanbing , Li Hua , Zhang Tiantian , Zhang Shuang , Dong Chuang , Steurer Walter 
Published: December 2020

AbstractA high-angle annular dark field scanning transmission electron microscopy study of the intermetallic compound Al74Cr15Fe11 reveals a quasiperiodic structure significantly differing from the ones known so far. In contrast to the common quasi-unit-cells based on Gummelt decagons, the present structure is related to a covering formed by Lück decagons, which can also be described by a Hexagon-Bow-Tie tiling.
Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma
Authors: Gutiérrez-Jimeno Miriam , Panizo-Morgado Elena , Tamayo Ibon , San Julián Mikel , Catalán-Lambán Ana , Alonso Marta M. , Patiño-García Ana 
Published: December 2020

AbstractRothmund–Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the RECQL4 gene. We hereby present a familiar case of RTS in two siblings from a Portuguese family, both diagnosed with osteosarcoma. Genomic analysis (203 genes) of both tumors as well as germline analysis of the RECQL4 gene, thus confirming the syndrome in the family, have been performed. The relevance of clinical recognition of the hallmarks of the disease and thus early diagnosis with early intervention is highlighted.
Characterization and control of open quantum systems beyond quantum noise spectroscopy
Authors: Youssry Akram , Paz-Silva Gerardo A. , Ferrie Christopher 
Published: December 2020

AbstractThe ability to use quantum technology to achieve useful tasks, be they scientific or industry related, boils down to precise quantum control. In general it is difficult to assess a proposed solution due to the difficulties in characterizing the quantum system or device. These arise because of the impossibility to characterize certain components in situ, and are exacerbated by noise induced by the environment and active controls. Here, we present a general purpose characterization and control solution making use of a deep learning framework composed of quantum features. We provide the framework, sample datasets, trained models, and their performance metrics. In addition, we demonstrate how the trained model can be used to extract conventional indicators, such as noise power spectra.
Tunable discrete scale invariance in transition-metal pentatelluride flakes
Authors: Liu Yanzhao , Wang Huichao , Zhu Haipeng , Li Yanan , Ge Jun , Wang Junfeng , Li Liang , Dai Ji-Yan , Yan Jiaqiang , Mandrus David , Joynt Robert , Wang Jian 
Published: December 2020

AbstractLog-periodic quantum oscillations discovered in transition-metal pentatelluride give a clear demonstration of discrete scale invariance (DSI) in solid-state materials. The peculiar phenomenon is convincingly interpreted as the presence of two-body quasi-bound states in a Coulomb potential. However, the modifications of the Coulomb interactions in many-body systems having a Dirac-like spectrum are not fully understood. Here, we report the observation of tunable log-periodic oscillations and DSI in ZrTe5 and HfTe5 flakes. By reducing the flakes thickness, the characteristic scale factor is tuned to a much smaller value due to the reduction of the vacuum polarization effect. The decreasing of the scale factor demonstrates the many-body effect on the DSI, which has rarely been discussed hitherto. Furthermore, the cut-offs of oscillations are quantitatively explained by considering the Thomas-Fermi screening effect. Our work clarifies the many-body effect on DSI and paves a way to tune the DSI in quantum materials.
Age-stratified discrete compartment model of the COVID-19 epidemic with application to Switzerland
Authors: Balabdaoui Fadoua , Mohr Dirk 
Published: December 2020

AbstractCompartmental models enable the analysis and prediction of an epidemic including the number of infected, hospitalized and deceased individuals in a population. They allow for computational case studies on non-pharmaceutical interventions thereby providing an important basis for policy makers. While research is ongoing on the transmission dynamics of the SARS-CoV-2 coronavirus, it is important to come up with epidemic models that can describe the main stages of the progression of the associated COVID-19 respiratory disease. We propose an age-stratified discrete compartment model as an alternative to differential equation based S-I-R type of models. The model captures the highly age-dependent progression of COVID-19 and is able to describe the day-by-day advancement of an infected individual in a modern health care system. The fully-identified model for Switzerland not only predicts the overall histories of the number of infected, hospitalized and deceased, but also the corresponding age-distributions. The model-based analysis of the outbreak reveals an average infection fatality ratio of 0.4% with a pronounced maximum of 9.5% for those aged ≥ 80 years. The predictions for different scenarios of relaxing the soft lockdown indicate a low risk of overloading the hospitals through a second wave of infections. However, there is a hidden risk of a significant increase in the total fatalities (by up to 200%) in case schools reopen with insufficient containment measures in place.
Active proportional electromyogram controlled functional electrical stimulation system
Authors: Osuagwu Bethel A. C. , Whicher Emily , Shirley Rebecca 
Published: December 2020

AbstractNeurophysiological theories and past studies suggest that intention driven functional electrical stimulation (FES) could be effective in motor neurorehabilitation. Proportional control of FES using voluntary EMG may be used for this purpose. Electrical artefact contamination of voluntary electromyogram (EMG) during FES application makes the technique difficult to implement. Previous attempts to date either poorly extract the voluntary EMG from the artefacts, require a special hardware or are unsuitable for online application. Here we show an implementation of an entirely software-based solution that resolves the current problems in real-time using an adaptive filtering technique with an optional comb filter to extract voluntary EMG from muscles under FES. We demonstrated that unlike the classic comb filter approach, the signal extracted with the present technique was coherent with its noise-free version. Active FES, the resulting EMG-FES system was validated in a typical use case among fifteen patients with tetraplegia. Results showed that FES intensity modulated by the Active FES system was proportional to intentional movement. The Active FES system may inspire further research in neurorehabilitation and assistive technology.
Linking human male vocal parameters to perceptions, body morphology, strength and hormonal profiles in contexts of sexual selection
Authors: Schild Christoph , Aung Toe , Kordsmeyer Tobias L. , Cardenas Rodrigo A. , Puts David A. , Penke Lars 
Published: December 2020

AbstractSexual selection appears to have shaped the acoustic signals of diverse species, including humans. Deep, resonant vocalizations in particular may function in attracting mates and/or intimidating same-sex competitors. Evidence for these adaptive functions in human males derives predominantly from perception studies in which vocal acoustic parameters were manipulated using specialist software. This approach affords tight experimental control but provides little ecological validity, especially when the target acoustic parameters vary naturally with other parameters. Furthermore, such experimental studies provide no information about what acoustic variables indicate about the speaker—that is, why attention to vocal cues may be favored in intrasexual and intersexual contexts. Using voice recordings with high ecological validity from 160 male speakers and biomarkers of condition, including baseline cortisol and testosterone levels, body morphology and strength, we tested a series of pre-registered hypotheses relating to both perceptions and underlying condition of the speaker. We found negative curvilinear and negative linear relationships between male fundamental frequency (fo) and female perceptions of attractiveness and male perceptions of dominance. In addition, cortisol and testosterone negatively interacted in predicting fo, and strength and measures of body size negatively predicted formant frequencies (Pf). Meta-analyses of the present results and those from two previous samples confirmed that fonegatively predicted testosterone only among men with lower cortisol levels. This research offers empirical evidence of possible evolutionary functions for attention to men’s vocal characteristics in contexts of sexual selection.