bluuebunny/crossref_metadata_2025_split huggingface dataset:
Decitabine and vorinostat with FLAG chemotherapy in pediatric relapsed/refractory AML: Report from the therapeutic advances in childhood leukemia and lymphoma (TACL) consortium
Authors: Pommert Lauren , Schafer Eric S. , Malvar Jemily , Gossai Nathan , Florendo Ellynore , Pulakanti Kirthi , Heimbruch Katelyn , Stelloh Cary , Chi Yueh‐Yun , Sposto Richard , Rao Sridhar , Huynh Van Thu , Brown Patrick , Chang Bill H. , Colace Susan I. , Hermiston Michelle L. , Heym Kenneth , Hutchinson Raymond J. , Kaplan Joel A. , Mody Rajen , O'Brien Tracey A. , Place Andrew E. , Shaw Peter H. , Ziegler David S. , Wayne Alan , Bhojwani Deepa , Burke Michael J. 
Published: February 2022

AbstractSurvival outcomes for relapsed/refractory pediatric acute myeloid leukemia (R/R AML) remain dismal. Epigenetic changes can result in gene expression alterations which are thought to contribute to both leukemogenesis and chemotherapy resistance. We report results from a phase I trial with a dose expansion cohort investigating decitabine and vorinostat in combination with fludarabine, cytarabine, and G‐CSF (FLAG) in pediatric patients with R/R AML [NCT02412475]. Thirty‐seven patients enrolled with a median age at enrollment of 8.4 (range, 1–20) years. There were no dose limiting toxicities among the enrolled patients, including two patients with Down syndrome. The recommended phase 2 dose of decitabine in combination with vorinostat and FLAG was 10 mg/m2. The expanded cohort design allowed for an efficacy evaluation and the overall response rate among 35 evaluable patients was 54% (16 complete response (CR) and 3 complete response with incomplete hematologic recovery (CRi)). Ninety percent of responders achieved minimal residual disease (MRD) negativity (<0.1%) by centralized flow cytometry and 84% (n = 16) successfully proceeded to hematopoietic stem cell transplant. Two‐year overall survival was 75.6% [95%CI: 47.3%, 90.1%] for MRD‐negative patients vs. 17.9% [95%CI: 4.4%, 38.8%] for those with residual disease (p < .001). Twelve subjects (34%) had known epigenetic alterations with 8 (67%) achieving a CR, 7 (88%) of whom were MRD negative. Correlative pharmacodynamics demonstrated the biologic activity of decitabine and vorinostat and identified specific gene enrichment signatures in nonresponding patients. Overall, this therapy was well‐tolerated, biologically active, and effective in pediatric patients with R/R AML, particularly those with epigenetic alterations.
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications
Authors: Yu Pui‐Tak , Shu Wendy , Mok Sau‐Lan , Hui Pui‐Wah , Chan Lin‐Wai , Kwok Ka‐Yin , Chan Kelvin Y. K. , Lo Tsz‐Kin , Chung Brian H. Y. , Luk Ho‐Ming , Kan Anita S. Y. 
Published: February 2022

AbstractBeckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely polyhydramnios, macrosomia, macroglossia, omphalocele, placental mesenchymal dysplasia, cardiomegaly, nephromegaly, fetal hydrops, and other rare anomalies. Paternal uniparental disomy in chromosome 11p15 imprinting region accounts for 20% of all BWS, and 8% among those were due to genome‐wide paternal uniparental disomy (GWpUPD). GWpUPD is a rare condition and usually results in prenatal lethality. The 31 liveborns reported in the literature demonstrate female predominance in surviving GWpUPD. Here, we reported two prenatal cases which initially presented with features suggestive of BWS, which subsequently were confirmed to have GWpUPD. Further trio SNP genotyping analysis using SNP‐based chromosomal microarray revealed androgenetic biparental chimera as the underlying cause. Finally, we highlighted the importance of recognizing GWpUPD as a possible cause in a fetus presenting with BWS phenotype, as it carried a different disease prognosis, tumor predisposition, manifestations of other imprinting disorders, and possibility in unmasking autosomal recessive disorders from the paternal alleles.
Co‐occurring anomalies in congenital oral clefts
Authors: Stoll Claude , Alembik Yves , Roth Marie‐Paule 
Published: February 2022

AbstractOral clefts (OCs) are frequently co‐occurring with other non‐OC congenital anomalies. The types and the prevalence of anomalies co‐occurring with OCs vary in the reported studies. The aims of this report were to study the types and the prevalence of the anomalies co‐occurring with OCs in a well‐defined population. The types and the prevalence of anomalies co‐occurring in cases with OCs were ascertained in all terminations of pregnancy, stillbirths, and live births in 387,067 births occurring consecutively during the period 1979–2007 in the area covered by our registry of congenital anomalies which is population based, 789 cases of OCs were registered during the study period with a prevalence of 20.4 per 10,000 births, 39.5% of the cases had associated non‐OC anomalies. Associated anomalies were more common in cases with cleft palate (52.4%) than in cases with cleft lip and palate (37.3%) and in cases with cleft lip only (16.8%). Chromosomal abnormalities were present in 94 (11.9%) cases including 27 trisomies 13, 15 trisomies 18, 12 22 q11.2 deletion, and 40 other chromosomal abnormalities. Nonchromosomal recognizable conditions were diagnosed in 38 cases (4.8%) including syndromes, associations, spectrums and sequences. Multiple congenital anomalies (MCAs) were present in 180 cases (22.8%). The most frequent MCA were in the musculoskeletal system (16.7%), the central nervous system (15.0%), the urogenital system (13.7%), the cardiovascular system (8.6%), and the digestive system (6.6%). The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with OCs.
Imaging Net Retrograde Axonal Transport In Vivo: A Physiological Biomarker
Authors: Lee Pin‐Tsun Justin , Kennedy Zachary , Wang Yuzhen , Lu Yimeng , Cefaliello Carolina , Uyan Özgün , Song Chun‐Qing , Godinho Bruno Miguel da Cruz , Xu Zuoshang , Rusckowski Mary , Xue Wen , Brown Robert H. 
Published: February 2022

ObjectiveThe objective of this study is to develop a novel method for monitoring the integrity of motor neurons in vivo by quantifying net retrograde axonal transport.MethodsThe method uses single photon emission computed tomography to quantify retrograde transport to spinal cord of tetanus toxin fragment C (125I‐TTC) following intramuscular injection. We characterized the transport profiles in 3 transgenic mouse models carrying amyotrophic lateral sclerosis (ALS)‐associated genes, aging mice, and SOD1G93A transgenic mice following CRISPR/Cas9 gene editing. Lastly, we studied the effect of prior immunization of tetanus toxoid on the transport profile of TTC.ResultsThis technique defines a quantitative profile of net retrograde axonal transport of TTC in living mice. The profile is distinctly abnormal in transgenic SOD1G93A mice as young as 65 days (presymptomatic) and worsens with disease progression. Moreover, this method detects a distinct therapeutic benefit of gene editing in transgenic SOD1G93A mice well before other clinical parameters (eg, grip strength) show improvement. Symptomatic transgenic PFN1C71G/C71G ALS mice display gross reductions in net retrograde axonal transport, which is also disturbed in asymptomatic mice harboring a human C9ORF72 transgene with an expanded GGGGCC repeat motif. In wild‐type mice, net retrograde axonal transport declines with aging. Lastly, prior immunization with tetanus toxoid does not preclude use of this assay.InterpretationThis assay of net retrograde axonal transport has broad potential clinical applications and should be particularly valuable as a physiological biomarker that permits early detection of benefit from potential therapies for motor neuron diseases. ANN NEUROL 2022;91:716–729
Reversible Supramolecular Polymorphism in Solution and Solid Matrix by Manipulating Sidegroup Conformation
Authors: Datta Saptarshi , Chaudhuri Debangshu 
Published: February 2022

AbstractReversible switching between supramolecular polymorphs offers a great way to introduce stimuli‐responsiveness. Supramolecular polymorphism is usually achieved through pathway complexity, or by exploiting solvent–solute interactions. But, steering a self‐assembly along a specific pathway to form a kinetically‐stable aggregate is not easy. Also, changing solvent to switch between polymorphs is impractical. We present a perylene bisimide molecule with a trans‐azobenzene sidegroup that assembles into three supramolecular polymorphs with distinct colors, morphologies, packing and aggregation mechanism. Optical absorption and FTIR spectroscopy reveal the importance of hydrogen‐bonding interaction between protic solvent and azo N that controls the planarity of the azobenzene group and influences molecular packing. This interaction can be further modulated using temperature, and solution pH to reversibly switch between the three polymorphs, in solution as well as in solid silica‐gel matrix.
Optimizing signal timing of the arterial‐branch intersection: A fuzzy control and nonlinear programming approach
Authors: Lu Zhaoyou , Ding Naikan , Lu Linsheng , Tian Zhuang 
Published: February 2022

AbstractArterial‐branch intersections are important components of urban road network but are greatly ignored of its role in maintaining an efficient traffic operation in regional networks. Arterial‐branch intersections are generally featured with significant fluctuations in the flow ratio of the branch road to the arterial road. So, in order to adapt the signal timing to this kind of intersection, an optimization control algorithm based on fuzzy control and nonlinear programming (FCNP) was proposed. To verify this optimization algorithm, the Python and Vissim joint simulation was employed. Prior to the simulation, traffic flow data were collected in 12 consecutive hours at an arterial‐branch intersection in China. The simulation results show that, after signal timing optimization with FCNP, the average vehicle queue length and delay reduced 25.8% and 17.3%, respectively, when compared with the performance of the traffic‐actuated control, which also outperformed previous equivalent research. Besides, the overall operation of the intersection was verified to be greatly improved and stabilized by using the proposed algorithm. The findings of this study provide a reasonable solution of distributing the right‐of‐way at arterial‐branch intersections and suggest the advantage of combining fuzzy control and nonlinear programming in dealing with the signal timing optimization.
Detecting systematic anomalies affecting systems when inputs are stationary time series
Authors: Sun Ning , Yang Chen , Zitikis Ričardas 
Published: February 2022

AbstractWe develop an anomaly detection method when systematic anomalies, possibly statistically very similar to genuine inputs, are affecting control systems at the input and/or output stages. The method allows anomaly free inputs (i.e., those before contamination) to originate from a wide class of random sequences, thus opening up possibilities for diverse applications. To illustrate how the method works on data, and how to interpret its results and make decisions, we analyze several actual time series, which are originally nonstationary but in the process of analysis are converted into stationary. As a further illustration, we provide a controlled experiment with anomaly free inputs following an ARMA time series model under various contamination scenarios.
Subdomains of restricted and repetitive behaviors within autism: Exploratory structural equation modeling using the diagnostic interview for social and communication disorders
Authors: Uljarević Mirko , Carrington Sarah J. , Hardan Antonio Y. , Leekam Susan R. 
Published: February 2022

AbstractThe current study aimed to explore the factor structure of a broad range of restricted and repetitive behaviors (RRB) within the autism spectrum. Exploratory structural equation modeling was conducted using individual item‐level data from the Diagnostic Interview for Social and Communication Disorders (DISCO). DISCO is a comprehensive semi‐structured interview used by clinicians to elicit information from caregivers about the individual's profile of development and behavior. Data from a sample of 226 individuals with a clinical diagnosis of autism spectrum disorder (ASD) (189 males; Mage = 11.82 years, SDage = 7.87) were analyzed. The six‐factor structure provided the most optimal and interpretable fit (comparative fit index = 0.944, Tucker–Lewis index = 0.923, root mean square error of approximation = 0.018). Derived factors were interpreted as repetitive motor behaviors (RMB), unusual sensory and object focused interests (USOI), sensory sensitivity (SS), insistence on sameness (IS), circumscribed interests (CI) and stereotyped language (SL). Age was significantly negatively associated with RMB, USOI and SL but not with SS, IS or CI factor scores. None of the factors were associated with sex. ASD individuals with intellectual disability (ID) had the highest RMB, USOI, SS and SL scores while those without ID had the highest IS and CI scores. Our findings provide preliminary evidence for the utility of the DISCO as a comprehensive measure of several distinct RRB domains in both research and clinical contexts. Importantly, the current investigation highlights crucial areas for measurement development.Lay SummaryThe diagnostic Interview for Social and Communication Disorders (DISCO) is a detailed caregiver report clinical interview designed to capture a wide range of key features associated with autism spectrum disorder, including restricted and repetitive behaviors (RRB). This paper provides initial evidence that the DISCO is a promising measure for assessing a wide range of RRB including repetitive motor behaviors, insistence on sameness, circumscribed interests, unusual interests in sensory stimuli, sensory sensitivity and stereotypic language.
Intra‐articular injection of rapamycin microparticles prevent senescence and effectively treat osteoarthritis
Authors: Dhanabalan Kaamini M. , Dravid Ameya A. , Agarwal Smriti , Sharath Ramanath K. , Padmanabhan Ashok Kumar , Agarwal Rachit 
Published: February 2022

AbstractTrauma to the knee joint is associated with significant cartilage degeneration and erosion of subchondral bone, which eventually leads to osteoarthritis (OA), resulting in substantial morbidity and healthcare burden. With no disease‐modifying drugs in clinics, the current standard of care focuses on symptomatic relief and viscosupplementation. Modulation of autophagy and targeting senescence pathways are emerging as potential treatment strategies. Rapamycin has shown promise in OA disease amelioration by autophagy upregulation, yet its clinical use is hindered by difficulties in achieving therapeutic concentrations, necessitating multiple weekly injections. Rapamycin‐loaded in poly(lactic‐co‐glycolic acid) microparticles (RMPs) induced autophagy, prevented senescence, and sustained sulphated glycosaminoglycans production in primary human articular chondrocytes from OA patients. RMPs were potent, nontoxic, and exhibited high retention time (up to 35 days) in mice joints. Intra‐articular delivery of RMPs effectively mitigated cartilage damage and inflammation in surgery‐induced OA when administered as a prophylactic or therapeutic regimen. Together, the study demonstrates the feasibility of using RMPs as a potential clinically translatable therapy to prevent the progression of post‐traumatic OA.
Health‐related quality of life at 3 months following head and neck cancer treatment is a key predictor of longer‐term outcome and of benefit from using the patient concerns inventory
Authors: Kanatas Anastasios , Lowe Derek , Rogers Simon N. 
Published: February 2022

AbstractIntroductionDuring clinical follow‐up it can be difficult to identify those head and neck cancer (HNC) patients who are coping poorly and could benefit from additional support. Health‐related quality of life (HRQOL) questionnaires and prompt lists provide a means by which patients can express their perceived outcomes and raise concerns. The first aim of this secondary analysis following a randomized trial was to explore which patient characteristics, at around 3 months following treatment completion (baseline), best predict HRQOL 12 months later. The second aim was to attempt to ascertain which patients were most likely to benefit from using prompt list.MethodsCluster‐controlled pragmatic trial data were analyzed. HRQOL was measured by the University of Washington Quality of life questionnaire (UW‐QOLv4). The prompt list was the Patient Concerns Inventory (PCI‐HN).ResultsThe trial involved 15 eligible consultants and a median (inter‐quartile range) of 16 (13–26) primary HNC patients per consultant, with 140 PCI patients and 148 controls. Baseline HRQOL was the dominant predictor of 12‐month HRQOL with other predictors related to social, financial, and lifestyle characteristics as well as clinical stage and treatment. Although formal statistical tests for interaction were non‐significant the trend in analyses over a range of outcomes suggested that patients with worse baseline HRQOL could benefit more from the PCI‐HN.DiscussionHRQOL early post‐treatment is a key predictor of longer‐term outcome. Measuring and using HRQOL and the PCI‐HN are not only surrogates for predicting HRQOL at 15 months post‐treatment, but also tools to help guide interventions.
Acculturation moderating between international students’ career decision‐making difficulties and career decision self‐efficacy
Authors: Li Dan , Lindo Natalya A. 
Published: February 2022

AbstractWe conducted a moderation analysis with a sample of 96 international students in the United States to examine the relationship among three study variables. Results indicated that international students’ acculturation modes (i.e., marginalization, separation, assimilation, and integration) significantly moderated the relationship between career decision‐making difficulties and career decision self‐efficacy. This finding not only corroborated the well‐documented inverse correlation between career decision‐making difficulties and career decision self‐efficacy, but further contextualized this relationship within the international students’ population, wherein acculturation plays a crucial role in their cross‐cultural living and learning experience. Implications for career development practitioners and future research directions were provided.
Iodine‐Chemisorption, Interpenetration and Polycatenation: Cationic MOFs and CPs from Group 13 Metal Halides and Di‐Pyridyl‐Linkers
Authors: Schäfer Thomas C. , Becker Jonathan , Seuffert Marcel T. , Heuler Dominik , Sedykh Alexander E. , Müller‐Buschbaum Klaus 
Published: February 2022

AbstractEight cationic, two‐dimensional metal‐organic frameworks (MOFs) were synthesized in reactions of the group 13 metal halides AlBr3, AlI3, GaBr3, InBr3 and InI3 with the dipyridyl ligands 1,2‐di(4‐pyridyl)ethylene (bpe), 1,2‐di(4‐pyridyl)ethane (bpa) and 4,4’‐bipyridine (bipy). Seven of them follow the general formula 2∞[MX2(L)2]A, M=Al, In, X=Br, I, A−=[MX4]−, I−, I3−, L=bipy, bpa, bpe. Thereby, the porosity of the cationic frameworks can be utilized to take up the heavy molecule iodine in gas‐phase chemisorption vital for the capture of iodine radioisotopes. This is achieved by switching between I− and the polyiodide I3− in the cavities at room temperature, including single‐crystal‐to‐single‐crystal transformation. The MOFs are 2D networks that exhibit (4,4)‐topology in general or (6,3)‐topology for 2∞[(GaBr2)2(bpa)5][GaBr4]2⋅bpa. The two‐dimensional networks can either be arranged to an inclined interpenetration of the cationic two‐dimensional networks, or to stacked networks without interpenetration. Interpenetration is accompanied by polycatenation. Due to the cationic character, the MOFs require the counter ions [MX4]−, I− or I3− counter ions in their pores. Whereas the [MX4]−, ions are immobile, iodide allows for chemisorption. Furthermore, eight additional coordination polymers and complexes were identified and isolated that elaborate the reaction space of the herein reported syntheses.
Versatile Near‐Infrared Super‐Resolution Imaging of Amyloid Fibrils with the Fluorogenic Probe CRANAD‐2
Authors: Torra Joaquim , Viela Felipe , Megías Diego , Sot Begoña , Flors Cristina 
Published: February 2022

AbstractCRANAD‐2 is a fluorogenic curcumin derivative used for near‐infrared detection and imaging in vivo of amyloid aggregates, which are involved in neurodegenerative diseases. We explore the performance of CRANAD‐2 in two super‐resolution imaging techniques, namely stimulated emission depletion (STED) and single‐molecule localization microscopy (SMLM), with markedly different fluorophore requirements. By conveniently adapting the concentration of CRANAD‐2, which transiently binds to amyloid fibrils, we show that it performs well in both techniques, achieving a resolution in the range of 45–55 nm. Correlation of SMLM with atomic force microscopy (AFM) validates the resolution of fine features in the reconstructed super‐resolved image. The good performance and versatility of CRANAD‐2 provides a powerful tool for near‐infrared nanoscopic imaging of amyloids in vitro and in vivo.
Prediction of Water Consumption in 31 Provinces of China Based on FGM(1,1) Model
Authors: Qiao Zhengran , Wu Lifeng , Yang Zizhao 
Published: February 2022

AbstractHuman production activities and social development cannot be separated from the indispensable water resources. In recent years, with the increasing speed of China's economic development, the consumption of water resources has gradually become the focus of attention of the Chinese government and the public. Based on the original data of water use of 31 provinces (municipalities and autonomous regions) in China from 2014 to 2018, a fractional order accumulative gray prediction model (FGM(1,1)) is established to predict the water use of 31 provinces (municipalities and autonomous regions) in China in the short term, and the applicability of the model is verified by the mean absolute percentage error (MAPE) value. According to the MAPE value, the data obtained by the FGM(1,1) model is relatively accurate. The prediction results show that in case of little change in total water consumption, agricultural water and industrial water use show a downward trend, while domestic water use shows an upward trend. The government's water management policy for urban residents needs to be adjusted, and the publicity work to improve the water‐saving awareness of urban residents needs to be improved.