bluuebunny/crossref_metadata_2025_split huggingface dataset:
Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption
Authors: Liu Yujun , Zhi Xu 
Published: July 2021

AbstractKallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the two major characterized phenotypes of KS. Besides, mirror movements, dental agenesis, digital bone abnormalities, unilateral renal agenesis, midline facial defects, hearing loss, and eye movement abnormalities can also be observed in KS patients. Because of the phenotypic heterogeneity, genetic diagnosis become increasingly valuable to distinguish KS from other disorders including normosmic congenital hypogonadotropic hypogonadism, constitutional delay of growth and puberty, CHARGE syndrome, and functional hypogonadotropic hypogonadism. Application of next-generation sequencing has promoted the discovery of novel pathogenic genes in KS pedigrees. Prenatal diagnosis is an effective method in clinical settings to decrease birth defects and block transmission of genetic disorders. However, pregnant women may suffer from physical and psychological distress when fetuses are diagnosed with congenital defects. Preimplantation genetic testing (PGT) is a prospective approach during the in vitro fertilization process that helps to interrupt transmission of hereditary diseases to offspring at an early stage. Thus, genetic testing and counseling are recommended to KS patients with family histories, prenatal diagnosis and PGT are considered to be useful options.
Cytogenetic Influence on Prognosis in Acute Promyelocytic Leukaemia
Authors: Vu Minh Phuong , Nguyen Cuc Nhung , Vu Hoang 
Published: July 2021

Objective/Background:
To analyse the influence of chromosomal aberrations in addition to t(15;17)(q22;q21) in acute promyelocytic leukaemia (APL) on clinical characteristics and treatment outcomes.

Methods:
Fifty-seven patients with new APL diagnoses underwent conventional cytogenetic analysis; fluorescence in situ hybridization for t(15;17)(q22;q21) and reverse transcriptase–polymerase chain reaction detected PML/RARα in two forms: L (length) and S (short) and accepted treatment with all-trans retinoic acid and chemotherapy. Patients with additional chromosome aberrations were designated as the complex karyotype group and were compared with patients with only t(15;17), who were designated as the simple karyotype group.

Results:
Additional chromosome aberrations was observed in 18/57 patients (31.6%) at initial diagnosis. Outcome was significantly different between the simple karyotype group and the complex karyotype group for complete remission (92.3% vs. 66.7% respectively, p = .025), overall survival at 3 years (92.3% vs. 65.0%, respectively, p = .017), and progression-free survival at 3 years (81.4% vs. 44.4%, respectively, p = .024).

Conclusions:
Additional chromosome aberrations had adverse effects on the prognosis in APL.
Spatiotemporal supraglacial pond and ice cliff changes in the Bhutan–Tibet border region from 2016 to 2018
Authors: Taylor Caroline Jane , Carr Joanne Rachel , Rounce David Robert 
Published: July 2021

AbstractSupraglacial ponds and ice cliffs can dramatically enhance ablation rates on debris-covered glaciers. Supraglacial ponds can also coalesce, forming moraine-dammed lakes at risk of glacial lake outburst flood (GLOF). Given Bhutanese glaciers have some of the highest ice loss rates in the Himalaya and GLOF vulnerability is high, we seek to advance our understanding of the spatial distribution and evolution of supraglacial ponds and ice cliffs. Here, we use high-resolution (3 m) Planet Labs satellite imagery to provide the first short-term, high-resolution dataset of supraglacial pond and ice cliff evolution for three glaciers along the Bhutan–Tibet border from 2016 to 2018. A total of 5754 ponds and 2088 ice cliffs were identified. Large intra-annual changes were observed, with ponded area changes and drainage events coinciding with the seasonality of the Indian Summer Monsoon. On average, ~19% of the total number of ponds had a coincident ice cliff. Pond spatial distribution was driven by ice-surface velocities, with higher numbers of ponds found in areas of low velocity (<8 m a−1). Our study provides the first detailed, quantitative investigation of supraglacial ponds and ice cliffs in Bhutan, providing a framework for further monitoring in this understudied, yet important, region of the Himalaya.
Militarization and Perceptions of Law Enforcement in the Developing World: Evidence from a Conjoint Experiment in Mexico
Authors: Flores-Macías Gustavo , Zarkin Jessica 
Published: July 2021

AbstractAlthough a growing body of research suggests that the constabularization of the military for domestic policing is counterproductive, this increasingly prevalent policy has nonetheless enjoyed widespread support in the developing world. This study advances our understanding of the consequences of militarization for perceptions of law enforcement: whether visual features shape perceptions of effectiveness, respect for civil liberties, proclivity for corruption and acceptance of militarization in one's own neighborhood. Based on a nationally representative, image-based, conjoint experiment conducted in Mexico, the authors find that military weapons and uniforms enhance perceptions of effectiveness and respect for civil liberties, and that the effect of military uniform becomes greater with increased military presence. The study also finds that gender shapes perceptions of civil liberties and corruption, but detects no effect for skin color. The findings suggest that a central feature of militarization linked to greater violence – military weapons – is paradoxically a key factor explaining favorable attitudes, and that women can play a crucial role in improving perceptions of law enforcement.
QUANTITATIVE ESTIMATE FOR THE MEASURE OF A SET OF REAL NUMBERS
Authors: BUDARINA NATALIA 
Published: July 2021

AbstarctAn effective estimate for the measure of the set of real numbers for which the inequality |P(x)|<Q-w for $w > {3 \over 2}n + 1$ has a solution in integral polynomials P of degree n and of height H(P) at most $Q \in {\rm{\mathbb N}}$ is obtained.
Social Positioning and International Order Contestation in Early Modern Southeast Asia
Authors: Chia Colin 
Published: July 2021

AbstractIdentities and ideas can lead to international order contestation through the efforts of international actors to socially position themselves and perform their identities. International actors try to shape the world to suit who they want to be. To substantiate this argument, I examine the contestation of international orders in early modern Southeast Asia. The prevailing view portrays a Confucian international order which formed a consensual and stable hierarchy in East Asia. However, instead of acquiescing to hegemonic leadership, both Siam and Vietnam frequently sought to assert their equality and even superiority to the Chinese dynasties. I argue that both polities engaged in political contention to define their places in relation to other polities and the broader social context in which they interacted. I examine how international order contestation emerged from efforts to define and redefine background knowledge about social positioning, social categorization, and the political ontologies and beliefs about collective purpose on which they are based. I claim that agents seek to interact with others in ways that reify their sense of self, and challenge the background knowledge embedded in performances of other actors that threaten their ability to perform their identity. I also argue against theories that attribute international order contestation to hegemonic decline or the breakdown of a tacit bargain, which assume that orders are held together by a dominant power. One implication is that hegemony and hierarchy are based on dominant ideas, not dominant states.
Transcranial direct current stimulation (tDCS) combined with cognitive training in adolescent boys with ADHD: a double-blind, randomised, sham-controlled trial
Authors: Westwood Samuel J. , Criaud Marion , Lam Sheut-Ling , Lukito Steve , Wallace-Hanlon Sophie , Kowalczyk Olivia S. , Kostara Afroditi , Mathew Joseph , Agbedjro Deborah , Wexler Bruce E. , Cohen Kadosh Roi , Asherson Philip , Rubia Katya 
Published: July 2021

AbstractBackgroundTranscranial direct current stimulation (tDCS) could be a side-effect-free alternative to psychostimulants in attention-deficit/hyperactivity disorder (ADHD). Although there is limited evidence for clinical and cognitive effects, most studies were small, single-session and stimulated left dorsolateral prefrontal cortex (dlPFC). No sham-controlled study has stimulated the right inferior frontal cortex (rIFC), which is the most consistently under-functioning region in ADHD, with multiple anodal-tDCS sessions combined with cognitive training (CT) to enhance effects. Thus, we investigated the clinical and cognitive effects of multi-session anodal-tDCS over rIFC combined with CT in double-blind, randomised, sham-controlled trial (RCT, ISRCTN48265228).MethodsFifty boys with ADHD (10–18 years) received 15 weekday sessions of anodal- or sham-tDCS over rIFC combined with CT (20 min, 1 mA). ANCOVA, adjusting for baseline measures, age and medication status, tested group differences in clinical and ADHD-relevant executive functions at posttreatment and after 6 months.ResultsADHD-Rating Scale, Conners ADHD Index and adverse effects were significantly lower at post-treatment after sham relative to anodal tDCS. No other effects were significant.ConclusionsThis rigorous and largest RCT of tDCS in adolescent boys with ADHD found no evidence of improved ADHD symptoms or cognitive performance following multi-session anodal tDCS over rIFC combined with CT. These findings extend limited meta-analytic evidence of cognitive and clinical effects in ADHD after 1–5 tDCS sessions over mainly left dlPFC. Given that tDCS is commercially and clinically available, the findings are important as they suggest that rIFC stimulation may not be indicated as a neurotherapy for cognitive or clinical remediation for ADHD.
The non-specific nature of mental health and structural brain outcomes following childhood trauma
Authors: Haidl Theresa K. , Hedderich Dennis M. , Rosen Marlene , Kaiser Nathalie , Seves Mauro , Lichtenstein Thorsten , Penzel Nora , Wenzel Julian , Kambeitz-Ilankovic Lana , Ruef Anne , Popovic David , Schultze-Lutter Frauke , Chisholm Katharine , Upthegrove Rachel , Salokangas Raimo K. R. , Pantelis Christos , Meisenzahl Eva , Wood Stephen J. , Brambilla Paolo , Borgwardt Stefan , Ruhrmann Stephan , Kambeitz Joseph , Koutsouleris Nikolaos 
Published: July 2021

AbstractBackgroundChildhood trauma (CT) is associated with an increased risk of mental health disorders; however, it is unknown whether this represents a diagnosis-specific risk factor for specific psychopathology mediated by structural brain changes. Our aim was to explore whether (i) a predictive CT pattern for transdiagnostic psychopathology exists, and whether (ii) CT can differentiate between distinct diagnosis-dependent psychopathology. Furthermore, we aimed to identify the association between CT, psychopathology and brain structure.MethodsWe used multivariate pattern analysis in data from 643 participants of the Personalised Prognostic Tools for Early Psychosis Management study (PRONIA), including healthy controls (HC), recent onset psychosis (ROP), recent onset depression (ROD), and patients clinically at high-risk for psychosis (CHR). Participants completed structured interviews and self-report measures including the Childhood Trauma Questionnaire, SCID diagnostic interview, BDI-II, PANSS, Schizophrenia Proneness Instrument, Structured Interview for Prodromal Symptoms and structural MRI, analyzed by voxel-based morphometry.Results(i) Patients and HC could be distinguished by their CT pattern with a reasonable precision [balanced accuracy of 71.2% (sensitivity = 72.1%, specificity = 70.4%, p ≤ 0.001]. (ii) Subdomains ‘emotional neglect’ and ‘emotional abuse’ were most predictive for CHR and ROP, while in ROD ‘physical abuse’ and ‘sexual abuse’ were most important. The CT pattern was significantly associated with the severity of depressive symptoms in ROD, ROP, and CHR, as well as with the PANSS total and negative domain scores in the CHR patients. No associations between group-separating CT patterns and brain structure were found.ConclusionsThese results indicate that CT poses a transdiagnostic risk factor for mental health disorders, possibly related to depressive symptoms. While differences in the quality of CT exposure exist, diagnostic differentiation was not possible suggesting a multi-factorial pathogenesis.
Investigating the Mechanisms Driving Referent Selection and Retention in Toddlers at Typical and Elevated Likelihood for Autism Spectrum Disorder
Authors: GLIGA Teodora , SKOLNICK Alex , LIERSCH Ute , CHARMAN Tony , JOHNSON Mark H , BEDFORD Rachael ,   The BASIS Team
Published: July 2021

AbstractIt was suggested that children's referent selection may not lay memory traces sufficiently strong to lead to retention of new word-object mappings. If this was the case we expect incorrect selections to be easily rectified through feedback. Previous work suggested this to be the case in toddlers at typical likelihood (TL) but not in those at elevated likelihood (EL) for autism spectrum disorder (ASD) (Bedford et al., 2013). Yet group differences in lexical knowledge may have confounded these findings. Here, TL (N = 29) and EL toddlers (N = 75) chose one of two unfamiliar objects as a referent for a new word. Both groups retained the word-referent mapping above chance when their choices were immediately reinforced but were at chance after corrective feedback. The same pattern of results was obtained when children observed another experimenter make the initial referent choice. Thus, children's referent choices lay memory traces that compete with subsequent correction; these strong word-object associations are not a result of children actively choosing potential referents for new words.
Tocqueville, Democratic Poetry, and the Religion of Humanity
Authors: Daglier Üner 
Published: July 2021

AbstractThe Religion of Humanity has typically been associated with Auguste Comte's positivism. Within liberal philosophical debate, John Stuart Mill's measured advocacy for it has received some attention, especially given his otherwise well-known emphasis on the tension between religion and liberty. Yet Alexis de Tocqueville's perceptive awareness of the Religion of Humanity as an evolving phenomenon, expressed through his discussion of democratic poetry, remained largely unnoticed. Of course, Tocqueville's essential religio-political task was to promote a modified version of Christianity and buttress the standing of religious morality as an outside barrier against human action motivated by democratic materialism, notwithstanding the secular doctrine of self-interest well understood. Indeed, despite the neutral tone of Tocqueville's discussion of democratic poetry, elsewhere his critique of democratic pantheism, writers and orators, theatre, and historians warned against excessive veneration of humanity, which amounted to a sublimation of the dogma of the sovereignty of the people.
The threatened Rufous Limestone BabblerGypsophila calcicola—not a quarry species, but a “quarried species”
Authors: ROUND PHILIP D. , TANTIPISANUH NARUEMON , EIAMAMPAI KRAIRAT , ASENSIO NORBERTO 
Published: July 2021

SummaryLimestone karst habitats are threatened globally by quarrying for production of concrete and cement. A significant area of limestone karst shared among the provinces of Saraburi, Lopburi and Nakhon Ratchasima in Thailand encompasses the entire global range of a threatened bird taxon, the Rufous Limestone BabblerGypsophila calcicola.We estimate that 10% of the suitable habitat for this species had already been lost to quarrying by 2020, and the extension of already proposed concessions could increase this to one-quarter, with the total area impacted by proposed future quarrying as great as 273 km2, or one and a half times greater than the entire area thought to support the species, within a few years. Only 2.66 km2(1.4% of the species’ range) has received formal habitat protection as national park. We propose further surveys of the babbler be incorporated as part of a wider biotic survey of the Saraburi Group Limestones, leading to the development of an integrated management and zoning plan that takes account of the distributional knowledge of other threatened endemic taxa of this region.
On directed analogues of expander and hyperfinite graph sequences
Authors: Csóka Endre , Grabowski Łukasz 
Published: July 2021

AbstractWe introduce and study analogues of expander and hyperfinite graph sequences in the context of directed acyclic graphs, which we call ‘extender’ and ‘hypershallow’ graph sequences, respectively. Our main result is a probabilistic construction of non-hypershallow graph sequences.
A Fast Algorithm for Scanning Transmission Electron Microscopy Imaging and 4D-STEM Diffraction Simulations
Authors: Pelz Philipp M. , Rakowski Alexander , Rangel DaCosta Luis , Savitzky Benjamin H. , Scott Mary C. , Ophus Colin 
Published: July 2021

AbstractScanning transmission electron microscopy (STEM) is an extremely versatile method for studying materials on the atomic scale. Many STEM experiments are supported or validated with electron scattering simulations. However, using the conventional multislice algorithm to perform these simulations can require extremely large calculation times, particularly for experiments with millions of probe positions as each probe position must be simulated independently. Recently, the plane-wave reciprocal-space interpolated scattering matrix (PRISM) algorithm was developed to reduce calculation times for large STEM simulations. Here, we introduce a new method for STEM simulation: partitioning of the STEM probe into “beamlets,” given by a natural neighbor interpolation of the parent beams. This idea is compatible with PRISM simulations and can lead to even larger improvements in simulation time, as well requiring significantly less computer random access memory (RAM). We have performed various simulations to demonstrate the advantages and disadvantages of partitioned PRISM STEM simulations. We find that this new algorithm is particularly useful for 4D-STEM simulations of large fields of view. We also provide a reference implementation of the multislice, PRISM, and partitioned PRISM algorithms.
Temporal Variability in Bottom Water Structures of the Continental Slope in the Northern South China Sea
Authors: Qu Ling , Lu Yuan‐Zheng , Cen Xian‐Rong , Guo Shuang‐Xi , Huang Peng‐Qi , Yu Lu‐Sha , Zhou Sheng‐Qi , Shang Xiao‐Dong , Mao Hua‐Bin , Chen Ju , Sun Zong‐Xun 
Published: July 2021

AbstractTemporal variability in bottom water structures has been observed in 37‐h high‐resolution temperature data at the ocean bottom up to 67.4 m on the continental shelf of the northern South China Sea. The water temperature is generally hot (cold) in the downslope (upslope) flow, but rapid temperature change is associated with the cross‐slope flow intensity changes. Downslope, wandering, and upslope phases are classified depending on the flow directions. Ellison scale method is used to evaluate the turbulent mixing. Intensive dissipation is observed in the wandering phase, the vertically integrated dissipation Eɛ ∼ 322 mW/m2 and the eddy diffusivity 〈Kz〉 in 0.01–0.15 m2/s, which is attributed to the critical interaction between the semidiurnal tides and the slope boundary. Eɛ is gradually reduced to 38.1 mW/m2 in the upslope phase, in which the topography is subcritical to the internal tides, while 〈Kz〉 is occasionally promoted to 0.077 m2/s owing to the weaker stratification. The bottom mixed layer is persistently exhibited, but highly intermittent around 13.9 m and varies from 0.2 m to greater than 67.4 m. Its thickness depends strongly on the water stratification and seems not to be directly linked with the turbulent mixing. The bottom unstable layer occurs mainly in the period slightly before and in the first half of the upslope flow phase. The induced convection makes a substantial contribution to the turbulent mixing when the overall mixing is relatively mild. In the intense mixing, even though the convectively driven mixing becomes much stronger, its contribution is less significant.
Can a data driven obesity classification system identify those at risk of severe COVID-19 in the UK Biobank cohort study?
Authors: Clark Stephen , Morris Michelle , Lomax Nik , Birkin Mark 
Published: July 2021

AbstractCOVID-19 is a disease that has been shown to have outcomes that vary by certain socio-demographic and socio-economic groups. It is increasingly important that an understanding of these outcomes should be derived not from the consideration of one aspect, but by a more multi-faceted understanding of the individual. In this study use is made of a recent obesity driven classification of participants in the United Kingdom Biobank (UKB) to identify trends in COVID-19 outcomes. This classification is informed by a recently created obesity systems map, and the COVID-19 outcomes are: undertaking a test, a positive test, hospitalisation and mortality. It is demonstrated that the classification is able to identify meaningful differentials in these outcomes. This more holistic approach is recommended for identification and prioritisation of COVID-19 risk and possible long-COVID determination.
Learning of food preferences: mechanisms and implications for obesity & metabolic diseases
Authors: Berthoud Hans-Rudolf , Morrison Christopher D. , Ackroff Karen , Sclafani Anthony 
Published: July 2021

AbstractOmnivores, including rodents and humans, compose their diets from a wide variety of potential foods. Beyond the guidance of a few basic orosensory biases such as attraction to sweet and avoidance of bitter, they have limited innate dietary knowledge and must learn to prefer foods based on their flavors and postoral effects. This review focuses on postoral nutrient sensing and signaling as an essential part of the reward system that shapes preferences for the associated flavors of foods. We discuss the extensive array of sensors in the gastrointestinal system and the vagal pathways conveying information about ingested nutrients to the brain. Earlier studies of vagal contributions were limited by nonselective methods that could not easily distinguish the contributions of subsets of vagal afferents. Recent advances in technique have generated substantial new details on sugar- and fat-responsive signaling pathways. We explain methods for conditioning flavor preferences and their use in evaluating gut–brain communication. The SGLT1 intestinal sugar sensor is important in sugar conditioning; the critical sensors for fat are less certain, though GPR40 and 120 fatty acid sensors have been implicated. Ongoing work points to particular vagal pathways to brain reward areas. An implication for obesity treatment is that bariatric surgery may alter vagal function.