bluuebunny/crossref_metadata_2025_split huggingface dataset:
A framework for the clinical implementation of optical genome mapping in hematologic malignancies
Authors: Levy Brynn , Kanagal‐Shamanna Rashmi , Sahajpal Nikhil S. , Neveling Kornelia , Rack Katrina , Dewaele Barbara , Olde Weghuis Daniel , Stevens‐Kroef Marian , Puiggros Anna , Mallo Mar , Clifford Benjamin , Mantere Tuomo , Hoischen Alexander , Espinet Blanca , Kolhe Ravindra , Solé Francesc , Raca Gordana , Smith Adam C. 
Published: January 2024

AbstractOptical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional standard of care cytogenomic clinical testing but it also adds significant new information in certain cases. Since OGM consolidates the diagnostic benefits of multiple costly and laborious tests (e.g., karyotyping, fluorescence in situ hybridization, and chromosomal microarrays) in a single cost‐effective assay, many clinical laboratories have started to consider utilizing OGM. In 2021, an international working group of early adopters of OGM who are experienced with routine clinical cytogenomic testing in patients with hematological neoplasms formed a consortium (International Consortium for OGM in Hematologic Malignancies, henceforth “the Consortium”) to create a consensus framework for implementation of OGM in a clinical setting. The focus of the Consortium is to provide guidance for laboratories implementing OGM in three specific areas: validation, quality control and analysis and interpretation of variants. Since OGM is a complex technology with many variables, we felt that by consolidating our collective experience, we could provide a practical and useful tool for uniform implementation of OGM in hematologic malignancies with the ultimate goal of achieving globally accepted standards.
Newly identified roles for PIEZO1 mechanosensor in controlling normal megakaryocyte development and in primary myelofibrosis
Authors: Abbonante Vittorio , Karkempetzaki Anastasia Iris , Leon Catherine , Krishnan Anandi , Huang Nasi , Di Buduo Christian A. , Cattaneo Daniele , Ward Christina Marie , Matsuura Shinobu , Guinard Ines , Weber Josiane , De Acutis Aurora , Vozzi Giovanni , Iurlo Alessandra , Ravid Katya , Balduini Alessandra 
Published: January 2024

AbstractMechanisms through which mature megakaryocytes (Mks) and their progenitors sense the bone marrow extracellular matrix to promote lineage differentiation in health and disease are still partially understood. We found PIEZO1, a mechanosensitive cation channel, to be expressed in mouse and human Mks. Human mutations in PIEZO1 have been described to be associated with blood cell disorders. Yet, a role for PIEZO1 in megakaryopoiesis and proplatelet formation has never been investigated. Here, we show that activation of PIEZO1 increases the number of immature Mks in mice, while the number of mature Mks and Mk ploidy level are reduced. Piezo1/2 knockout mice show an increase in Mk size and platelet count, both at basal state and upon marrow regeneration. Similarly, in human samples, PIEZO1 is expressed during megakaryopoiesis. Its activation reduces Mk size, ploidy, maturation, and proplatelet extension. Resulting effects of PIEZO1 activation on Mks resemble the profile in Primary Myelofibrosis (PMF). Intriguingly, Mks derived from Jak2V617F PMF mice show significantly elevated PIEZO1 expression, compared to wild‐type controls. Accordingly, Mks isolated from bone marrow aspirates of JAK2V617F PMF patients show increased PIEZO1 expression compared to Essential Thrombocythemia. Most importantly, PIEZO1 expression in bone marrow Mks is inversely correlated with patient platelet count. The ploidy, maturation, and proplatelet formation of Mks from JAK2V617F PMF patients are rescued upon PIEZO1 inhibition. Together, our data suggest that PIEZO1 places a brake on Mk maturation and platelet formation in physiology, and its upregulation in PMF Mks might contribute to aggravating some hallmarks of the disease.
Complex karyotype but not other cytogenetic abnormalities is associated with worse posttransplant survival of patients with nucleophosmin 1‐mutated acute myeloid leukemia: A study from the European Society for Blood and Marrow Transplantation Acute Leukemia Working Party
Authors: Moukalled Nour , Labopin Myriam , Versluis Jurjen , Socié Gérard , Blaise Didier , Salmenniemi Urpu , Rambaldi Alessandro , Gedde‐Dahl Tobias , Tholouli Eleni , Kröger Nicolaus , Bourhis Jean‐Henri , Von Dem Borne Peter , Daguindau Etienne , Forcade Edouard , Nagler Arnon , Esteve Jordi , Ciceri Fabio , Bazarbachi Ali , Mohty Mohamad 
Published: January 2024

AbstractIn the 2022 European LeukemiaNet classification, patients with nucleophosmin 1 (NPM1)‐mutated acute myeloid leukemia (AML) were classified in the adverse‐risk category in the presence of high‐risk cytogenetics (CG). Nonetheless, the impact of various CG aberrations on posttransplant outcomes remains to be unraveled. This registry study analyzed adult patients with NPM1‐mutated de novo AML who underwent their first allogeneic hematopoietic cell transplantation in the first complete remission from 2005 to 2021. A total of 3275 patients were identified, 2782 had normal karyotype, 493 had chromosomal aberrations including 160 with adverse‐risk CG, 72 patients had complex karyotype (CK), and 66 monosomal karyotype (MK). Overall, 2377 (73%) patients had FLT3‐ITD. On univariate analysis, only FLT3‐ITD, minimal/measurable residual disease (MRD) positivity and CK, but not abnormal CG, affected posttransplant outcomes. On multivariable analysis, CK was associated with lower overall survival (OS) (hazard ratio [HR] 1.72, p = .009). In the subgroup of 493 patients with aberrant CG, the 2‐year leukemia‐free survival (LFS) and OS were around 61% and 68%, respectively. On multivariable analysis for this subgroup, CK and MRD positivity were associated with increased risk of relapse (HR 1.7, p = .025; and 1.99, p = .003 respectively) and worse LFS (HR 1.62, p = .018; and 1.64, p = .011 respectively) while FLT3‐ITD, MK, or other CG abnormalities had no significant effect. Importantly, CK negatively affected OS (HR 1.91, p = .002). In the first complete remission transplant setting, CK was found as the only cytogenetic risk factor for worse outcomes in NPM1‐mutated AML. Nevertheless, even for this subgroup, a significant proportion of patients can achieve long‐term posttransplant survival.
Phase I study of zoledronic acid combined with escalated doses of interleukine‐2 for early in vivo generation of Vγ9Vδ2 T‐cells after haploidentical stem cell transplant with posttransplant cyclophosphamide
Authors: Jullien Maxime , Guillaume Thierry , Le Bourgeois Amandine , Peterlin Pierre , Garnier Alice , Eveillard Marion , Le Bris Yannick , Bouzy Simon , Tessoulin Benoît , Gastinne Thomas , Dubruille Viviane , Touzeau Cyrille , Mahé Béatrice , Blin Nicolas , Lok Anne , Vantyghem Sophie , Sortais Clara , Antier Chloé , Moreau Philippe , Scotet Emmanuel , Béné Marie C. , Chevallier Patrice 
Published: January 2024

AbstractThe presence of donor Vγ9Vδ2 T‐cells after haploidentical hematopoietic stem cell transplant (h‐HSCT) has been associated with improved disease‐free survival. These cells kill tumor cells in a non‐MHC restricted manner, do not induce graft‐versus‐host disease (GVHD), and can be generated by stimulation with zoledronic acid (ZA) in combination with interleukin‐2 (IL‐2). This monocentric phase I, open‐label, dose‐escalating study (ClinicalTrials.gov: NCT03862833) aimed at evaluating the safety and possibility to generate Vγ9Vδ2 T‐cells early after h‐HSCT. It applied a standard 3 + 3 protocol to determine the maximum tolerated dose (MTD) of increasing low‐doses of IL‐2 (5 days [d] per week, 4 weeks) in combination with a single dose of ZA, starting both the first Monday after d + 15 posttransplant. Vγ9Vδ2 T‐cell monitoring was performed by multiparameter flow cytometry on blood samples and compared with a control cohort of h‐HSCT recipients. Twenty‐six patients were included between April 2019 and September 2022, 16 of whom being ultimately treated and seven being controls who received h‐HSCT only. At the three dose levels tested, 1, 0, and 1 dose‐limiting toxicities were observed. MTD was not reached. A significantly higher number of Vγ9Vδ2 T‐cells was observed during IL‐2 treatment compared with controls. In conclusion, early in vivo generation of Vγ9Vδ2 T‐cells is feasible after h‐HSCT by using a combination of ZA and repeated IL‐2 infusions. This study paves the way to a future phase 2 study, with the hope to document lesser posttransplant relapse with this particular adaptive immunotherapy.
Individualized rabbit anti‐thymocyte globulin dosing in adult haploidentical hematopoietic cell transplantation with high‐risk hematologic malignancy: Exposure–response analysis and population pharmacokinetics simulations
Authors: Teramoto Masahiro , Takahashi Takuto , Matsumoto Kana , Jaber Mutaz , Kaida Katsuji , Tamaki Hiroya , Ikegame Kazuhiro , Yoshihara Satoshi 
Published: January 2024

AbstractHematopoietic cell transplantation (HCT) for hematologic malignancies with non‐remission disease and/or prior post‐transplant relapse have poor relapse‐free survival. We previously demonstrated the efficacy of haploidentical reduced‐intensity HCT regimen with glucocorticoid‐based graft‐versus‐host disease (GVHD) prophylaxis. We recently showed a possible association between rabbit antithymocyte globulin (rATG) exposure and acute GVHD (aGVHD) risk, leading to hypothesize that optimization of rATG exposure may further improve this regimen. We retrospectively examined the exposure–response association of rATG and key clinical outcomes post haploidentical HCT. We subsequently developed an individualized rATG dosing that optimizes rATG exposure using a previously developed population pharmacokinetic model. Of the 103 patients analyzed, the median age was 47 years (range: 17–70) and majority had a non‐remission disease prior to HCT (88%). rATG concentration on day 0 of HCT (Cday_0) was the strongest predictor of Grade 2–4 aGVHD through day +100. Patients with Cday_0 ≥ 20 μg/mL had an approximately 3‐fold lower risk of Grade 2–4 aGVHD (hazard ratio [HR]: 0.32, 95% confidence interval [CI]: 0.16, 0.62) and Grade 3–4 aGVHD (HR: 0.33, 95% CI: 0.16, 0.68) as well as an approximately 2‐fold lower risk of overall mortality (HR: 0.47, 95% CI: 0.28, 0.77) and relapse (HR: 0.50, 95% CI: 0.26, 0.94). In conclusion, this reduced‐intensity haploidentical HCT regimen with exposure‐optimized rATG may provide a promising option to patients undergoing high‐risk HCT for hematologic malignancy. The developed rATG dosing warrant prospective validation.
Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline
Authors: Ramírez‐Cheyne Julián , López Diana , Payán‐Gómez César , Arcos‐Burgos Mauricio , Saldarriaga Wilmar 
Published: January 2024

AbstractThe FMR1 5′ regulation gene region harbors a CGG trinucleotide repeat expansion (CGG‐TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions. Ricaurte is a small village in southwestern Colombia, with an FXS prevalence of 1 in 38 men and 1 in 100 women (~100 times higher than the worldwide reported prevalence), defining Ricaurte as the largest FXS cluster in the world. In the present study, using next‐generation sequencing of whole exome capture, we genotype 55 individuals from Ricaurte (49 with either full mutation or with premutation), four individuals from neighboring villages (with either the full mutation or with the premutation), and one unaffected woman, native of Ricaurte, who did not belong to any of the affected families. With advanced clustering and haplotype reconstruction, we modeled a common haplotype of 33 SNPs spanning 83,567,899 bp and harboring the FMR1 gene. This reconstructed haplotype was found in all the men from Ricaurte who carried the expansion, demonstrating that the genetic conglomerate of FXS in this population is due to a founder effect. The definition of this founder effect and its population outlining will allow a better prediction, follow‐up, precise and personalized characterization of epidemiological parameters, better knowledge of the disease's natural history, and confident improvement of the clinical attention, life quality, and health interventions for this community.
Highly Selective Lithium Transport through Crown Ether Pillared Angstrom Channels
Authors: Ye Tingyan , Gao Hongfei , Li Qi , Liu Nannan , Liu Xueli , Jiang Lei , Gao Jun 
Published: January 2024

AbstractBiological ion channels use the synergistic effects of various strategies to realize highly selective ion sieving. For example, potassium channels use functional groups and angstrom‐sized pores to discriminate rival ions and enrich target ions. Inspired by this, we constructed a layered crystal pillared by crown ether that incorporates these strategies to realize high Li+ selectivity. The pillared channels and crown ether have an angstrom‐scale size. The crown ether specifically allows the low‐barrier transport of Li+. The channels attract and enrich Li+ ions by up to orders of magnitude. As a result, our material sieves Li+ out of various common ions such as Na+, K+, Ca2+, Mg2+ and Al3+. Moreover, by spontaneously enriching Li+ ions, it realizes an effective Li+/Na+ selectivity of 1422 in artificial seawater where the Li+ concentration is merely 25 μM. We expect this work to spark technologies for the extraction of lithium and other dilute metal ions.
Pentazolate Anion: A Rare and Preferred Five‐Membered Ligand for Constructing Pentasil‐Zeolite Topology Architectures
Authors: Cao Yuteng , Liu Yu , Zhang Wenquan 
Published: January 2024

AbstractAs the fourth full‐nitrogen structure, the pentazolate anion (cyclo‐N5−) was highly coveted for decades. In 2017, the first air‐stable non‐metal pentazolate salt, (N5)6(H3O)3(NH4)4Cl, was obtained, representing a milestone in this field. As the latest member of the azole family, cyclo‐N5− is comprised of five nitrogen atoms. Although significant attention has been paid to the potential of cyclo‐N5− as an energetic material, its poor thermostability hinders any practical application. However, the unique ring structure and multiple coordination capability of cyclo‐N5− provide a platform for the fabrication of various structures, among which pentasil‐zeolite topologies are the most intriguing. In addition, the introduction of structure‐directing auxiliaries enables the self‐assembly of diverse topological architectures, potentially imparting cyclo‐N5− with the potential to impact wide‐ranging areas of coordination chemistry and topology. In this minireview, different pentasil‐zeolite topologies based on metal‐pentazolate frameworks are evaluated. To date, three zeolitic and zeolite‐like topologies have been reported, namely the melanophlogite (MEP), chibaite (MTN), and unj topologies. The MEP topology consists of two nanocages, Na20N60 and Na24N60, whereas the MTN topology contains Na20N60 and Na28N80 nanocages. Furthermore, the unj topology features multiple homochiral channels consisting of two helical chains. Various possible strategies for obtaining additional pentasil‐zeolite topologies are also discussed.
How the Length of Through‐Space Conjugation Influences the Clusteroluminescence of Oligo(Phenylene Methylene)s
Authors: Wang Lei , Xiong Zuping , Zhi Sun Jing , Huang Feihe , Zhang Haoke , Zhong Tang Ben 
Published: January 2024

AbstractThe length and mode of conjugation directly affect the molecular electronic structure, which has been extensively studied in through‐bond conjugation (TBC) systems. Corresponding research greatly promotes the development of TBC‐based luminophores. However, how the length and mode of through‐space conjugation (TSC), one kind of weak interaction, influence the photophysical properties of non‐conjugated luminophores remains a relatively unexplored field. Here, we unveil a non‐linear relationship between TSC length and emission characteristics in non‐conjugated systems, in contrast to the reported proportional correlation in TBC systems. More specifically, oligo(phenylene methylene)s (OPM[4]‐OPM[7]) exhibit stronger TSC and prominent blue clusteroluminescence (CL) (≈440 nm) compared to shorter counterparts (OPM[2] and OPM[3]). OPM[6] demonstrates the highest solid‐state quantum yield (40 %), emphasizing the importance of balancing flexibility and rigidity. Further theoretical calculations confirmed that CL of these oligo(phenylene methylene)s was determined by stable TSC derived from the inner rigid Diphenylmethane (DPM) segments within the oligomers instead of the outer ones. This discovery challenges previous assumptions and adds a new dimension to the understanding of TSC‐based luminophores in non‐conjugated systems.
Design strategy of poly (L‐lactic acid) mixed braided stent: The influence of braiding ratio of thick and thin monofilaments
Authors: Zhang Chen , Hu Xue , Wang Bin , Liu Wentao , Liu Jinbo , Wu Gensheng , Cheng Jie , Ni Zhonghua , Zhao Gutian 
Published: January 2024

AbstractFor the design of polymer stents, supportability and flexibility are two important indexes, but they are often difficult to balance. The mixed braiding of monofilaments with different diameters provides a potential solution to balance these two indices. In this study, the influence of mixed braiding on the mechanical properties of the stent was further explored by adjusting the knitting ratio of thick and thin monofilaments. By replacing the monofilaments in the stent with monofilaments with smaller diameters in turn, the changing trend of supportability and flexibility is obtained. The results show that, when the number of thick monofilaments is greater than or equal to that of thin monofilaments, the supportability of the stent can not only be maintained but also the flexibility can be greatly improved. Therefore, mixed braiding has the function of adjusting supportability and flexibility.
Microscopic and Spectroscopic Analysis of the Solid Electrolyte Interphase at Hard Carbon Composite Anodes in 1 M NaPF6/Diglyme
Authors: Palanisamy Krishnaveni , Daboss Sven , Romer Jan , Schäfer David , Rohnke Marcus , Flowers Jackson K. , Fuchs Stefan , Stein Helge S. , Fichtner Maximilian , Kranz Christine 
Published: January 2024

AbstractThe formation of the solid electrolyte interphase (SEI) on HC composite electrodes plays a crucial role in enhancing the performance and operational stability of sodium (Na+) ion batteries. It has been demonstrated that for HC anodes improved electrochemical performance, e. g., increase in coulombic efficiency (CE) and improved rate performance have been achieved in ether‐based electrolytes. Here, we investigate spray‐coated HC composite electrodes charged at low and high current rates in 1 M sodium hexafluorophosphate (NaPF6) in diglyme using half‐cell experiments. The pristine and cycled HC anodes were examined in terms of conductivity and their electrochemical properties after cycling. In 1 M NaPF6 ether‐based electrolyte, the spray‐coated HC composite electrodes (film thickness approx. 22.0 μm with an active mass loading of approx. 2.0 mg cm−2) reached a discharge capacity of 431 mA h g−1 at 0.1 C that stays constant for 40 cycles, which is substantially higher than that obtained in carbonate‐based electrolytes. We investigated the formed interphase using conductive atomic force microscopy (c‐AFM), scanning electrochemical microscopy (SECM), X‐ray photoelectron spectroscopy (XPS) and time‐of‐flight secondary‐ion mass spectrometry (ToF‐SIMS), revealing distinct differences for longer cycling and at varying current rates which indicates that the properties of the formed SEI layers are influenced by the formation conditions.
Biodiesel production in India: Prospects, challenges, and sustainable directions
Authors: Damian Christopher Selvam , Devarajan Yuvarajan , Jayabal Ravikumar 
Published: January 2024

AbstractBiodiesel has the potential to serve as a feasible substitute for fossil fuels in many sectors, including transportation and internal combustion engines, without requiring extensive modifications. UsinHemg alternative energy sources, including biodiesel, is necessary to effectively tackle the growing demand predominantly observed in the transportation sector. This review is aimed to examine the technological progress, potential benefits, obstacles, and prospects associated with using biodiesel in India. India exhibits a significant potential for biodiesel production due to the abundance of various biofuel crops within its territory. The information supplied includes recent information from official government reports and literature. Collaborative efforts among all stakeholders in the energy industry can achieve the realization of reducing imports of petroleum‐based fuel. However, it is essential to consider several significant elements specific to the Indian context when considering the utilization of biodiesel. The reported findings in this research are expected to shed light on the current and prospects of biodiesel deployment in India.
Capital sentencing and neuropsychiatry
Authors: Brakel Samuel Jan , Tucker Douglas E. 
Published: January 2024

AbstractThe neuropsychiatric contribution to capital sentencing proceedings has grown substantially in recent decades as the consideration of neurological and psychiatric factors in criminal behavior has been increasingly accepted as relevant to the quest for justice. This review article will focus on the legal theories underlying neuropsychiatric input into capital sentencing decisions, as well as some of the investigative techniques and resulting data which may be offered by forensic neuropsychiatrists in this context. The death penalty is unique in its severity and irreversibility, as the courts, including the U.S. Supreme Court, have noted repeatedly. “Death is different,” and the recognition of this has generated a set of court decisions and statutes pertinent specifically to capital proceedings, both procedural and substantive.
Artificial intelligence for oral squamous cell carcinoma detection based on oral photographs: A comprehensive literature review
Authors: de Chauveron Jérôme , Unger Max , Lescaille Géraldine , Wendling Laurent , Kurtz Camille , Rochefort Juliette 
Published: January 2024

AbstractIntroductionOral squamous cell carcinoma (OSCC) presents a significant global health challenge. The integration of artificial intelligence (AI) and computer vision holds promise for the early detection of OSCC through the analysis of digitized oral photographs. This literature review explores the landscape of AI‐driven OSCC automatic detection, assessing both the performance and limitations of the current state of the art.Materials and MethodsAn electronic search using several data base was conducted, and a systematic review performed in accordance with PRISMA guidelines (CRD42023441416).ResultsSeveral studies have demonstrated remarkable results for this task, consistently achieving sensitivity rates exceeding 85% and accuracy rates surpassing 90%, often encompassing around 1000 images. The review scrutinizes these studies, shedding light on their methodologies, including the use of recent machine learning and pattern recognition approaches coupled with different supervision strategies. However, comparing the results from different papers is challenging due to variations in the datasets used.DiscussionConsidering these findings, this review underscores the urgent need for more robust and reliable datasets in the field of OSCC detection. Furthermore, it highlights the potential of advanced techniques such as multi‐task learning, attention mechanisms, and ensemble learning as crucial tools in enhancing the accuracy and sensitivity of OSCC detection through oral photographs.ConclusionThese insights collectively emphasize the transformative impact of AI‐driven approaches on early OSCC diagnosis, with the potential to significantly improve patient outcomes and healthcare practices.