bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center
Authors: Xu Xinxiu , Denton James , Wu Yaning , Liu Jie , Guan Qiaoning , Dawson D. Brian , Bleesing Jack , Zhang Wenying 
Published: July 2024

AbstractAutoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder featuring chronic lymphadenopathy, splenomegaly, cytopenias, and increased lymphoma risk. Differentiating ALPS from immunodeficiencies with overlapping symptoms is challenging. This study evaluated the performance and the diagnostic yield of a 15-gene NGS panel for ALPS at Cincinnati Children’s Hospital Medical Center. Samples from 802 patients submitted for ALPS NGS panel were studied between May 2014 and January 2023. A total of 62 patients (7.7%) had a definite diagnosis: 52/62 cases (84%) showed 37 unique pathogenic/likely pathogenic germline FAS variants supporting ALPS diagnosis (6.5%, 52/802). The ALPS diagnostic yield increased to 30% in patients who additionally fulfilled abnormal ALPS immunology findings criteria. 17/37 (46%) diagnostic FAS variants were novel variants reported for the first time in ALPS. 10/802 cases (1.2%) showed diagnostic findings in five genes (ADA2, CTLA4, KRAS, MAGT1, NRAS) which are related to autoimmune lymphoproliferative immunodeficiency (ALPID). Family studies enabled the reclassification of variants of unknown significance (VUS) and also the identification of at-risk family members of FAS-positive patients, which helped in the follow-up diagnosis and treatment. Alongside family studies, complete clinical phenotypes and abnormal ALPS immunology and Fas-mediated apoptosis results helped clarify uncertain genetic findings. This study describes the largest cohort of genetic testing for suspected ALPS in North America and highlights the effectiveness of the ALPS NGS panel in distinguishing ALPS from non-ALPS immunodeficiencies. More comprehensive assessment from exome or genome sequencing could be considered for undefined ALPS-U patients or non-ALPS immunodeficiencies after weighing cost, completeness, and timeliness of different genetic testing options.
The Distance Between: An Algorithmic Approach to Comparing Stochastic Models to Time-Series Data
Authors: Sherlock Brock D. , Boon Marko A. A. , Vlasiou Maria , Coster Adelle C. F. 
Published: July 2024

AbstractWhile mean-field models of cellular operations have identified dominant processes at the macroscopic scale, stochastic models may provide further insight into mechanisms at the molecular scale. In order to identify plausible stochastic models, quantitative comparisons between the models and the experimental data are required. The data for these systems have small sample sizes and time-evolving distributions. The aim of this study is to identify appropriate distance metrics for the quantitative comparison of stochastic model outputs and time-evolving stochastic measurements of a system. We identify distance metrics with features suitable for driving parameter inference, model comparison, and model validation, constrained by data from multiple experimental protocols. In this study, stochastic model outputs are compared to synthetic data across three scales: that of the data at the points the system is sampled during the time course of each type of experiment; a combined distance across the time course of each experiment; and a combined distance across all the experiments. Two broad categories of comparators at each point were considered, based on the empirical cumulative distribution function (ECDF) of the data and of the model outputs: discrete based measures such as the Kolmogorov–Smirnov distance, and integrated measures such as the Wasserstein-1 distance between the ECDFs. It was found that the discrete based measures were highly sensitive to parameter changes near the synthetic data parameters, but were largely insensitive otherwise, whereas the integrated distances had smoother transitions as the parameters approached the true values. The integrated measures were also found to be robust to noise added to the synthetic data, replicating experimental error. The characteristics of the identified distances provides the basis for the design of an algorithm suitable for fitting stochastic models to real world stochastic data.
Zur Bedeutung der Ambiguitätstoleranz in stürmischen Zeiten
Authors: Möller Heidi , Zimmermann Jannik 
Published: July 2024

ZusammenfassungDieser Beitrag in der Zeitschrift „Gruppe. Interaktion. Organisation. (GIO)“ führt in das Konzept der Ambiguitätstoleranz ein und verdeutlicht seine Relevanz im gegenwärtigen Zeitgeschehen. Ambiguitätstoleranz wird gemeinhin als wichtige Kompetenz auch im organisationalen Kontext gesehen, um Mehrdeutigkeiten und Unsicherheiten auszuhalten und in krisenhaften Zeiten handlungsfähig zu bleiben. Nachdem die Autor:innen des Beitrags detaillierter auf die Entstehung des aus den 1940ern stammenden Konzeptes eingegangen sind, verdeutlichen sie seine hohe gesellschaftspolitische Relevanz anhand des Diskurses um die documenta 15, des Streites um den Konflikt in Nahost und der Reaktionen auf die Enthüllungen von Correctiv zur Neuen Rechten. Daran anknüpfend zeigen sie auf, was sich daraus für den Organisationskontext ableiten lässt. Abschließend widmet sich der Beitrag der Frage der Erlernbarkeit von Ambiguitätstoleranz und zeigt dessen Voraussetzungen auf.
Bridging the Gap Between Sīla and Samādhi: The Role of Mindfulness in Pre-Meditative Practice
Authors: Ben-David Aviran 
Published: July 2024

AbstractThis article explores the dynamic aspect of sīla, which entails divergent constructions of the moral practice in the schemes of the path in the Pāli canonical and post-canonical texts. In early Buddhist tradition, sīla is usually defined as the moral discipline consisting of three factors of the Eightfold Path (Right Speech, Right Action, and Right Livelihood), corresponding with varied lists of precepts applied to different agents. In addition to that partial understanding, this paper aspires to enrich the concept of sīla that goes beyond mere observance of precepts and includes practices related to the extended category of mindfulness. In the advanced stages of the path, mindfulness is usually incorporated with samādhi (concentration) to access deep meditative states. Nonetheless, the different interpretations of the path imply that some features of mindfulness practice have an active role in the prior mental dimension of moral development. Practices such as sati-sampajañña (mindfulness and clear comprehension), bhojane mattaññū (moderation in eating), jāgariyā (wakefulness), and santosa (contentment) all precede formal meditative development. However, they are included under the wide framework of mindfulness. Although these practices are not identified as ethical per se, they play a vital role in the practice of sīla and provide the necessary conditions for advanced mental development in formal meditative practice. As a result of these findings, this paper aspires to expand the notion of sīla as an integrated stage that combines bodily, verbal, and mental development, which comprises the pre-meditative practice.
From the head of the snake to the unity of the world: mapping blurred transitions at the Congo estuary, 1859–1880
Authors: Schürmann Felix 
Published: July 2024

AbstractThe Congo estuary is a space of transitions not only in hydrological but also in historical terms. When from the 1860s the centuries-old slave trade ended and foreign companies established trading posts along the lower river to export raw materials, mapmakers from Europe began to relate the Congo with what they perceived as “world traffic” in new ways. Grounded in a close reading and contextualisation of two nautical charts by the British Admiralty, a general map from a German geographic journal, and an economic map by a French officer, this article discusses how maps reflected the dynamics at the lower section of the river under the conditions of colonial globalisation. During the nineteenth century, mapping rivers and oceans translated notions of globality into a visual language and thus significantly contributed to envisioning aquatic and terrestrial parts of the earth as a spatial continuum. Driven by an underlying capitalist desire increasingly directed towards the Congo basin, the maps in question transformed the river area from a terra incognita into a potentially controllable area and confirmed interpretations of the estuary as a portal of global relevance. Royal Navy officers mapped the estuary in contexts of unfolding imperial power and at times during military operations. While aiming at demystifying the river, the maps also formed projection surfaces for fantasies, fictions, and imaginations. Mapmakers processed knowledge from the riverine BaKongo communities only selectively and filtered it through a standardised repertoire of cartographic signs, thus participating in a “nihilisation” (Luckmann/Berger) of African knowledge.
Meteorological drought in the upper Noteć catchment area (Central Poland) in the light of NDVI and SPI indicators
Authors: Kubiak-Wójcicka Katarzyna , Pilarska Agnieszka , Kamiński Dariusz 
Published: July 2024

AbstractThe currently used standardised precipitation index (SPI) does not allow for a reliable assessment of the impact of drought due to the small and unevenly distributed network of meteorological stations. Hopes for developing methods to assess the impact of droughts are pinned on remote data acquisition and the use of analysis of aerial photographs and satellite scenes. The aim of this study is to assess the occurrence of drought based on the normalised difference vegetation index (NDVI) and SPI at multiple time scales (1-, 3-, and 6-, 9- and 12-month). NDVI values do not simply reflect meteorological drought. However, the spatial co-occurrence of meteorological drought with drought defined on the basis of the NDVI index was demonstrated. The study presents a new approach to identifying drought characterized by SPI and NDVI based on the bivariate choropleth map method, which can indicate the actual places of drought occurrence. The study was carried out for the upper Noteć catchment located in Central Poland.
Novel Hybrid Composites Based on HKUST-1 and a Matrix of Magnetite Nanoparticles with Sustainable Materials for Efficient CO2 Adsorption
Authors: Toledo-Jaldin Helen Paola , Flores Alien Blanco , Pinzón-Vanegas Cristian L. , Ávila-Marquez Delia Montserrat , Domínguez Iván A. Reyes , Mahdavi Hamidreza , Dorazco-González Alejandro 
Published: July 2024

AbstractDeveloping new sustainable and functional materials for greenhouse gas adsorption, such as carbon dioxide, is a central field of material chemistry that impacts the environmental sciences. Herein, two novel magnetic composites based on a nanoporous Cu2+-MOF, [Cu3(trimesate)2(H2O)3]n (HKUST-1) supported on a matrix of magnetite nanoparticles with sugarcane bagasse 1 or peanut shells 2 were prepared and studied in detail as adsorbent materials for CO2, CH4, and N2 at different pressures. The chemical composition and physical characteristics of the composites 1–2 were thoroughly studied by multiple spectroscopic tools (FTIR, PXRD), thermogravimetric analysis (TGA), Scanning Electron Microscopy (SEM), and BET measurements. The surface areas were estimated to be 91.3 m2 g−1 and 65.9 m2 g−1, respectively. In general, CO2 has a greater affinity to composites 1–2 compared to the other tested gases. The CO2 maximum adsorption capacities were estimated at 14.55 mmol g−1 and 3.76 mmol g−1 for 1 and 2, respectively. The CO2 adsorption efficiency of 1 is similar to those reported with the best adsorbent nanoporous materials that require a more laborious chemical synthesis. The capture mechanism of CO2 is attributed to multilayer adsorption on the heterogeneous surface of 1–2 as evidenced by the isotherm adsorption model parameters and spectroscopic experiments. The usage of magnetic composites of Cu2+-MOFs with these sustainable materials for gas adsorption has not been explored till now.
Non-universality Relationships for Charged Higgs Boson Yukawa Couplings in the Two Higgs Doublet Model Type III
Authors: Gutiérrez J. S. 
Published: July 2024

AbstractIn the context of the two Higgs doublet model type III with flavor-changing neutral currents at the tree level, I obtain non-universality relationships of charged Higgs boson Yukawa coupling constants by calculating the widths of the pure leptonic decays of the tau lepton $$\tau \rightarrow e \bar{\nu }_e \nu _\tau$$

τ
→
e

ν

¯

e

ν
τ

and $$\tau \rightarrow \mu \bar{\nu }_\mu \nu _\tau$$

τ
→
μ

ν

¯

μ

ν
τ

. To this end, I first calculate these total widths by including the effects of the exchanges of the Higgs boson $$H^-$$

H
-

and the gauge boson $$W^-$$

W
-

, with the purpose to obtain the flavor-violating contribution $$\Delta _l^{H^-}$$

Δ
l

H
-

and then to calculate the fraction $$\Delta _\mu ^{H^-}/\Delta _e^{H^-}$$

Δ
μ

H
-

/

Δ
e

H
-

. By writing this fraction in terms of the experimental and electroweak standard model branching ratios of these decays and assuming that flavors of neutrino and antineutrino in the final state are defined but unknown, I obtain fractions of charged Higgs boson Yukawa coupling constants that differ from one. These fractions establish non-universality relationships associated with the scalar interaction in contrast to the universality relationships associated with the electroweak interaction.
Incidental detection of pancreatic cancer by F-18-fluorodeoxyglucose positron emission tomography/computed tomography in a patient with hereditary breast and ovarian cancer syndrome
Authors: Uchida Naotaka , Takehita Miho , Suda Takako 
Published: July 2024

AbstractPatients with hereditary breast and ovarian cancer syndrome (HBOC) are associated with an increased risk of developing pancreatic cancer (PC) than the general population. There is no consensus about the clinical value of F-18-fluorodeoxyglucose (FDG)-positron emission tomography/computed tomography (PET/CT) in patients with HBOC. We report a patient with HBOC in whom PC was detected incidentally by PET/CT. A 48-year-old woman complaining of a right breast mass sought evaluation at our hospital. Her older brother died of PC at 49 years of age. Histologic analysis of the breast mass revealed breast cancer (BC). FDG-PET/CT showed unanticipated FDG accumulation in the pancreas. Magnetic resonance cholangiopancreatography (MRCP) revealed a mass in the pancreas approximately 25mm in size. Endoscopic ultrasound guided-fine needle aspiration biopsy (EUS-FNA) demonstrated PC. Genetic testing showed a BRCA2 pathologic variant [NM_000059.4(BRCA2): c.9076C > T (p.Gln3026Ter)]. She was referred to a university hospital and underwent surgery after neoadjuvant chemotherapy for PC. It is difficult to detect operable PC in most patients. The diagnostic utility of PET/CT for PC in high-risk patients, such as those with HBOC, is undetermined. Our case has demonstrated the clinical value of PET/CT in detecting incidental PC in HBOC patients.
A Comparative Study Between Conventional Outrigger System and Hybrid Outrigger System considering Performance Index Criterion
Authors: John Neethu Elizabeth , Kamath Kiran 
Published: July 2024

AbstractOutriggers are regarded as a structural component which can effectively lessen the reactions generated by lateral loads in tall buildings. Depending on the connectivity between the core and the peripheral columns, the outrigger system can be divided into virtual outrigger system and conventional outrigger system (COS). The hybrid outrigger system (HOS) has one conventional outrigger and one virtual outrigger at two distinct floor levels. This study gives a comparison of optimal position and performance between COS and HOS based on formulated performance index criterion (PIC) for building heights of 140, 210, 280 and 350 m by considering variations in stiffness of the outrigger belt wall and beam, the stiffness of the building's core, the height of the structure and the length of the outrigger arm under static wind and equivalent static earthquake load. The outrigger behaviour assessed using PIC takes into account the combined response of displacement at top, absolute maximum inter storey drift ratio and acceleration response at the roof. Based on PIC, performance of both COS and HOS at their evaluated optimal position are compared, and is found that HOS are less effective than COS. Therefore, to enhance the performance of HOS to be in par with COS, an optimization study is performed by increasing the axial stiffness of column, stiffness of outrigger, and stiffness of slab while maintaining the increase in total concrete volume of the structure a minimum. From the findings, PIC values of HOS (PICHOS) for 40 to 100 storeys exhibits an increase of 10 to 1.1, 20.2 to 2.2 and 12.5 to 1.9% for variation in core thickness, length of outrigger arm, and outrigger thickness, respectively, compared to PIC values of COS (PICCOS). For PICHOS to be comparable with PICCOS, increase in the total concrete volume of HOS reduces from 1.4–16.5 to 0.6–2.5% as the model's height increases from 40 to 100 storeys, respectively, suggesting that the HOS with marginal increase in total concrete volume can perform effectively for taller structures.
Effects of the switch from dulaglutide to tirzepatide on glycemic control, body weight, and fatty liver: a retrospective study
Authors: Sawamura Toshitaka , Mizoguchi Ren , Ohmori Ai , Kometani Mitsuhiro , Yoneda Takashi , Karashima Shigehiro 
Published: July 2024

Abstract
Objectives
Tirzepatide belongs to a new class of anti-diabetic agents that stimulate both glucagon-like peptide-1 and glucose-dependent insulinotropic polypeptide receptors, resulting in a greater blood glucose-lowering effect and body weight reduction than glucagon-like peptide-1 analogs. However, data on the effects of switching from glucagon-like peptide-1 analogs to tirzepatide on the blood glucose level, body weight, and liver functions are unavailable.

Methods
Data from 40 patients with type 2 diabetes who received a prescription change from dulaglutide to tirzepatide were retrospectively analyzed at the 3 and 6 months after the switch. The analyzed data included glycosylated hemoglobin, body weight, aspartate aminotransferase, alanine aminotransferase, γ-glutamyl transpeptidase levels, and fibrosis-4 index.

Results
Six months after the treatment switch, average reductions of 1.2% and 3.6 kg were observed in the glycosylated hemoglobin and body weight, respectively. The change in glycosylated hemoglobin level was negatively correlated with the baseline glycosylated hemoglobin level. However, body weight reduction was observed regardless of the baseline characteristics. Moreover, the aspartate aminotransferase, alanine aminotransferase, and γ-glutamyl transpeptidase levels decreased 6 months after the switch. Reductions in alanine aminotransferase levels was greater in patients with higher baseline aspartate aminotransferase, alanine aminotransferase, and γ-glutamyl transpeptidase levels. Although the fibrosis-4 index did not improve during the study period, a trend toward a decrease was observed in patients with a higher baseline fibrosis-4 index.

Conclusions
Switching from dulaglutide to tirzepatide has a beneficial effect on the blood glucose level, body weight, and liver function in patients with type 2 diabetes.
Response of vegetation variation to climate change and human activities in the Shiyang River Basin of China during 2001–2022
Authors: Sun Chao , Bai Xuelian , Wang Xinping , Zhao Wenzhi , Wei Lemin 
Published: July 2024

AbstractUnderstanding the response of vegetation variation to climate change and human activities is critical for addressing future conflicts between humans and the environment, and maintaining ecosystem stability. Here, we aimed to identify the determining factors of vegetation variation and explore the sensitivity of vegetation to temperature (SVT) and the sensitivity of vegetation to precipitation (SVP) in the Shiyang River Basin (SYRB) of China during 2001–2022. The climate data from climatic research unit (CRU), vegetation index data from Moderate Resolution Imaging Spectroradiometer (MODIS), and land use data from Landsat images were used to analyze the spatial-temporal changes in vegetation indices, climate, and land use in the SYRB and its sub-basins (i.e., upstream, midstream, and downstream basins) during 2001–2022. Linear regression analysis and correlation analysis were used to explore the SVT and SVP, revealing the driving factors of vegetation variation. Significant increasing trends (P<0.05) were detected for the enhanced vegetation index (EVI) and normalized difference vegetation index (NDVI) in the SYRB during 2001–2022, with most regions (84%) experiencing significant variation in vegetation, and land use change was determined as the dominant factor of vegetation variation. Non-significant decreasing trends were detected in the SVT and SVP of the SYRB during 2001–2022. There were spatial differences in vegetation variation, SVT, and SVP. Although NDVI and EVI exhibited increasing trends in the upstream, midstream, and downstream basins, the change slope in the downstream basin was lower than those in the upstream and midstream basins, the SVT in the upstream basin was higher than those in the midstream and downstream basins, and the SVP in the downstream basin was lower than those in the upstream and midstream basins. Temperature and precipitation changes controlled vegetation variation in the upstream and midstream basins while human activities (land use change) dominated vegetation variation in the downstream basin. We concluded that there is a spatial heterogeneity in the response of vegetation variation to climate change and human activities across different sub-basins of the SYRB. These findings can enhance our understanding of the relationship among vegetation variation, climate change, and human activities, and provide a reference for addressing future conflicts between humans and the environment in the arid inland river basins.
Racial Disparities in the Diagnosis and Prognosis of ALS Patients in the United States
Authors: Raymond Jaime , Nair Theresa , Gwathmey Kelly Graham , Larson Theodore , Horton D. Kevin , Mehta Paul 
Published: July 2024

Abstract
Background
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal disease with largely unknown etiology. This study compares racial differences in clinical characteristics of ALS patients enrolled in the National ALS Registry (Registry).

Methods
Data from ALS patients who completed the Registry’s online clinical survey during 2013–2022 were analyzed to determine characteristics such as site of onset, associated symptoms, time of symptom onset to diagnosis, and pharmacological and non-pharmacological interventions for White, Black, and other race patients.

Results
Surveys were completed by 4242 participants. Findings revealed that Black ALS patients were more likely to be diagnosed at a younger age, to have arm or hand initial site of onset, and to experience pneumonia than were White ALS patients. ALS patients of other races were more likely than White ALS patients to be diagnosed at a younger age and to experience twitching. The mean interval between the first sign of weakness and an ALS diagnosis for Black patients was almost 24 months, statistically greater than that of White (p = 0.0374; 16 months) and other race patients (p = 0.0518; 15.8 months). The mean interval between problems with speech until diagnosis was shorter for White patients (6.3 months) than for Black patients (17.7 months) and other race patients (14.8 months).

Conclusions and Relevance
Registry data shows racial disparities still exist in the diagnosis and clinical characteristics of ALS patients. Increased recruitment of non-White ALS patients and better characterization of symptom onset between races might aid clinicians in diagnosing ALS sooner, leading to earlier therapeutic interventions.