bluuebunny/crossref_metadata_2025_split huggingface dataset:
Discrepancies between genotype and phenotype in hematology: an important frontier
Authors: Beutler Ernest 
Published: July 2002

Abstract
An African American male infant with sickle cell disease has a devastating stroke; an African American soldier is surprised when he is informed that he has sickle cell disease. They are both homozygous for the same mutation. An Ashkenazi Jewish woman with Gaucher disease has a huge spleen and severe thrombocytopenia; her older brother, homozygous for the same 1226G glucocerebrosidase mutation, is found on routine examination to have a barely palpable spleen tip. The fact that clinical manifestations of genetic diseases can vary widely among patients has been recognized for many decades. In the past, however, it could often be attributed to the pleomorphic nature of mutations of the same gene: the patient with severe disease, it was averred, must have a different mutation than the one with mild disease. Even before a precise definition of mutations could be achieved at the DNA level, such an explanation did not serve to clarify the differences that existed between siblings with the same autosomal recessive disease. Such siblings must surely be carrying the same 2 disease-producing alleles. With the advent of sequence analysis of genes, the great extent of phenotype variation in patients with the same genotype has come to be more fully appreciated, but understanding of why it occurs continues to be meager. It is the purpose of this review to explore some of the variations in phenotype seen by hematologists in patients with identical mutations, to indicate where some progress has been made, and to suggest how understanding in this important area may be expanded.
Practical applications of uniqueness theorems in gravimetry: Part II—Pragmatic incorporation of concrete geologic information
Authors: Barbosa Valéria C. F. , Silva João B. C. , Medeiros Walter E. 
Published: July 2002

We illustrate the importance of establishing solution uniqueness through mathematical restrictions reflecting a source attribute. We also illustrate the validity and utility of a guideline derived in an accompanying paper for constructing sound gravity inversion methods for the class of sources presenting either homogeneous or depth‐independent density distributions. The two‐part guideline is (1) to introduce a priori information favoring uniqueness, either by assuming that a nonnull density distribution depending only on x and y is confined to the interior of a horizontal slab with known position or by limiting the class of possible solutions to homogeneous, simply connected polygons (or polyhedra) with known density, displaying no fancy shapes and no curling apophyses at their borders, and (2) to introduce information favoring solution stability by estimating only the features of the source which may be resolved by the data. Following the guideline, we apply different methods to gravity data using interpretation models consisting of a grid of cells on the x‐y and x‐z planes. In both cases the estimates are very close to the true synthetic source. The data produced by the distribution varying with x and z are also inverted using the method, which minimizes the norm of the first‐order derivative of the density. This constraint does not reflect a true source attribute but is strong enough to stabilize the solution and to guarantee its uniqueness. Because of the strong bias imposed to the solution, the estimated distribution, although unique and stable, is far from the true source, concentrating most of the anomalous mass at the surface. Finally, we present an alternative method which redistributes the estimated anomalous mass downward. To be effective, this technique requires prior knowledge about the source depth to the top. In addition, the source should not be too small and deep. Although being able to produce good results, this alternative method requires a great dose of the interpreter's art.
AspergillusGalactomannan Detection in the Diagnosis of Invasive Aspergillosis in Cancer Patients
Authors: Herbrecht Raoul , Letscher-Bru Valérie , Oprea Corina , Lioure Bruno , Waller Jocelyn , Campos France , Villard Odile , Liu Kun-Lun , Natarajan-Amé Shanti , Lutz Patrick , Dufour Patrick , Bergerat Jean-Pierre , Candolfi Ermanno 
Published: July 2002

PURPOSE: To assess the Aspergillus galactomannan enzyme-linked immunosorbent assay (ELISA) in the diagnosis of invasive aspergillosis (IA) in adult and pediatric oncohematologic patients. PATIENTS AND METHODS: The study was conducted in four patient groups: those with fever of unknown origin (FUO) during neutropenia, suspected pulmonary infection (PI), or nonpulmonary aspergillosis (NPA) and those undergoing surveillance (S) after hematopoietic stem-cell transplantation (HSCT). IA was classified as definite, probable, or possible, according to European Organization for Research and Treatment of Cancer/Mycosis Study Group definitions. RESULTS: A total of 3,294 serum samples were collected during 797 episodes (FUO, 261; PI, 297; NPA, 28; and surveillance, 211), and 153 episodes of IA were diagnosed (31 definite, 67 probable, and 55 possible). Three episodes were first suspected from galactomannan ELISA; the remaining 150 cases were diagnosed from clinical or radiologic evidence. Sensitivity of the ELISA was 64.5%, 16.4%, and 25.5% in definite, probable, and possible episodes of IA, respectively, and was lower in patients positive for anti-Aspergillus antibodies than in antibody-negative patients. Most false-positive results occurred in children and in allogeneic HSCT (allo-HSCT) patients. Overall specificity of the ELISA was 94.8%. It was lower in children compared with adults (P < .0001) and in allo-HSCT patients compared with non–allo-HSCT adults (P = .0002). Lowering the ELISA cutoff value from 1.500 to 0.700 seemed more relevant for non–allo-HSCT adults (sensitivity, 73.1%, 44.3%, and 44.7% in definite, probable, and possible IA, respectively; specificity, 94%). CONCLUSION: Galactomannan ELISA seems less sensitive than previously described, and sensitivity can be further reduced by the presence of anti-Aspergillus antibodies. A new cutoff value for the ELISA of 0.700 is proposed for non–allo-HSCT adults.
Prospective Randomized Trial Comparing Mitomycin, Cisplatin, and Protracted Venous-Infusion Fluorouracil (PVI 5-FU) With Epirubicin, Cisplatin, and PVI 5-FU in Advanced Esophagogastric Cancer
Authors: Ross P. , Nicolson M. , Cunningham D. , Valle J. , Seymour M. , Harper P. , Price T. , Anderson H. , Iveson T. , Hickish T. , Lofts F. , Norman A. 
Published: July 2002

PURPOSE: We report the results of a prospectively randomized study that compared the combination of epirubicin, cisplatin, and protracted venous-infusion fluorouracil (PVI 5-FU) (ECF) with the combination of mitomycin, cisplatin, and PVI 5-FU (MCF) in previously untreated patients with advanced esophagogastric cancer. PATIENTS AND METHODS: Five hundred eighty patients with adenocarcinoma, squamous carcinoma, or undifferentiated carcinoma were randomized to receive either ECF (epirubicin 50 mg/m2 every 3 weeks, cisplatin 60 mg/m2 every 3 weeks and PVI 5-FU 200 mg/m2/d) or MCF (mitomycin 7 mg/m2 every 6 weeks, cisplatin 60 mg/m2 every 3 weeks, and PVI 5-FU 300 mg/m2/d) and analyzed for survival, response, toxicity, and quality of life (QOL). RESULTS: The overall response rate was 42.4% (95% confidence interval [CI], 37% to 48%) with ECF and 44.1% (95% CI, 38% to 50%) with MCF (P = .692). Toxicity was tolerable, and there were only two toxic deaths. ECF resulted in more grade 3/4 neutropenia and grade 2 alopecia, but MCF caused more thrombocytopenia and plantar-palmar erythema. Median survival was 9.4 months with ECF and 8.7 months with MCF (P = .315); at 1 year, 40.2% (95% CI, 34% to 46%) of ECF and 32.7% (95% CI, 27% to 38%) of MCF patients were alive. Median failure-free survival was 7 months with both regimens. Global QOL scores were better with ECF at 3 and 6 months. CONCLUSION: This study confirms response, survival, and QOL benefits of ECF observed in a previous randomized study. The equivalent efficacy of MCF was demonstrated, but QOL was superior with ECF. ECF remains one of the reference treatments for advanced esophagogastric cancer.
Assessment of Molecular Markers of Clinical Sensitivity to Single-Agent Taxane Therapy for Metastatic Breast Cancer
Authors: Van Poznak Catherine , Tan Lee , Panageas Katherine S. , Arroyo Crispinita D. , Hudis Clifford , Norton Larry , Seidman Andrew D. 
Published: July 2002

PURPOSE: The taxanes affect tubulin polymerization and interfere with mitotic transition. A checkpoint blockade at the G1-S boundary would be expected to promote taxane-induced apoptotic cell death through a mechanism that may involve p27. Other proposed determinants of clinical taxane sensitivity/resistance include p53, members of the epidermal growth factor receptor (EGFR) superfamily (eg, HER2, EGFR), and estrogen receptors and progesterone receptors. These molecular markers and their correlation with clinical taxane sensitivity are investigated in this retrospective clinicopathologic study. PATIENTS AND METHODS: We performed immunohistochemistry (IHC) for estrogen receptors, progesterone receptors, HER2, EGFR, p53, and p27 on 144 breast tumor specimens from patients treated for metastatic breast cancer on a series of clinical trials of single-agent taxane chemotherapy for correlation with clinical response (complete or partial response). Patient characteristics that could influence response (ie, performance status, extent of disease, and prior therapy) were also examined. RESULTS: In univariate analysis, Karnofsky performance status ≥ 90% and no prior history of anthracycline therapy correlated with a good clinical response to single-agent taxane (P = .003 and P = .041, respectively). None of the IHC variables tested were predictive of clinical response to taxane therapy, although p27 negativity showed a trend toward significance (P = .075). Concordance between the polyclonal antibody with HercepTest (DAKO, Carpinteria, CA) and the monoclonal antibody CB-11 (BioGenex, San Ramon, CA) was noted (kappa = 0.943); however, neither univariate nor multivariate analysis demonstrated an association between HER2 status and response to taxane chemotherapy. CONCLUSION: The IHC biomarkers studied were not predictive of response to single-agent taxane chemotherapy in patients with metastatic breast cancer. Identification of molecular correlates of taxane response remains an important goal.
Enhancement of Circularly Polarized Light Detection Through Ortho‐Substitution in Chiral Perylene Diimides
Authors: Li Zhenping , Shen Xianfeng , Zhao Wenkai , Gao Ke , Wang Zhiwei , Zhuo Huagui , Liu Jinhang , Wang Zhuofan , Yang Lei , Zheng Xinglong , Yan Yang , Fang Yunsheng , Chen Feng , Wan Li , Long Guankui , Li Rongjin , Ma Wei , Zhang Mingming , Shang Xiaobo 
Published: November 2024

AbstractChiral organic small molecules are promising for circularly polarized light (CPL) detection due to their easy modifiability, strong intermolecular interactions, and straightforward manipulation of the transition dipole moments. However, they often exhibit a low absorption asymmetry factor (gabs) since their magnetic transition dipole moment (m) is overshadowed by the electric transition dipole moment (μ), and their alignment (θ) is not optimized, limiting the performance of CPL photodetectors. This study introduces an ortho‐substitution strategy to significantly enhance CPL detection in chiral perylene diimides (PDIs) by tuning the crystal packing motif. Incorporating a cyano group at the ortho‐position markedly reduces the angle (θ) between m and μ within the crystal, thus amplifying the gabs. The fabricated chiral organic single‐crystal film devices of (R)‐4CN‐PDI‐Ph demonstrated superior photodetecting performance, with a photocurrent asymmetry factor (gph) of 0.362 — three times larger than that of its counterpart (R)‐4PH‐PDI‐Ph. These findings underscore the pivotal role of ortho‐substitution in tuning molecular stacking, enhancing CPL detection, and deepening the understanding of the structure‐performance relationship in chiral organic optoelectronics.
Interfacial Coupling Induced Discrete Orientation of Epitaxial Graphene on High‐Index Cu Substrates
Authors: Lou Shuang , Ma Xiuqing , Wang Zhong , Wang Weizhi , Song Lu , Sun Xiaoli , Ding Yumei , Yin Wan‐jian , Yang Weimin , Tan Jing , Sun Xiucai , Liu Zhongfan 
Published: November 2024

AbstractControlled and precise synthesis of materials has been a central pursuit in academia and industry. With the rise of twistronics research, there is growing demand for synthesizing orientation‐controlled 2D materials with atomic precision. Previous theories for 2D materials can predict graphene (Gr) growth on low‐index metal substrates but fail to explain the discrete orientations on most high‐index substrates, inconsistent with experimental data. Using density functional theory (DFT) and ab‐initio molecular dynamics (AIMD), this study explores graphene growth on high‐index substrates, showing that atomic steps do not dominate in trapping C atoms or driving preferential graphene nucleation at high temperatures. Thus, the possibility of intrinsic atomic steps in inducing graphene orientation on high‐index substrates is ruled out. Interfacial coupling strength between graphene and substrates is quantified using a close contact index (CCI), linking atomic structure and electronic states. The coupling between graphene and high‐index Cu surfaces is generally weak, reducing substrate anchoring and increasing graphene orientation dispersion. The extension of this theory to bilayer graphene (BLG) reveals competition between Gr/Cu interfacial coupling and Gr/Gr interlayer coupling, offering insights for controlling twist angles. This theory explains the discrete orientations on high‐index substrates, providing a theoretical basis for synthesizing orientation‐controlled graphene.
Bacteriophage‐Activated DNAzyme Hydrogels Combined with Machine Learning Enable Point‐of‐Use Colorimetric Detection of Escherichia coli
Authors: Mann Hannah , Khan Shadman , Prasad Akansha , Bayat Fereshteh , Gu Jimmy , Jackson Kyle , Li Yingfu , Hosseinidoust Zeinab , Didar Tohid F. , Filipe Carlos D. M. 
Published: November 2024

AbstractDeveloping cost‐effective, consumer‐accessible platforms for point‐of‐use environmental and clinical pathogen testing is a priority, to reduce reliance on laborious, time‐consuming culturing approaches. Unfortunately, a system offering ultrasensitive detection capabilities in a form that requires little auxiliary equipment or training has remained elusive. Here, a colorimetric DNAzyme‐crosslinked hydrogel sensor is presented. In the presence of a target pathogen, DNAzyme cleavage results in hydrogel dissolution, yielding the release of entrapped gold nanoparticles in a manner visible to the naked eye. Recognizing that Escherichia coli holds high relevance within both environmental and clinical environments, an E. coli‐responsive DNAzyme is incorporated into this platform. Through the optimization of the hydrogel polymerization process and the discovery of bacteriophage‐induced DNAzyme signal amplification, 101 CFU mL−1 E. coli is detected within real‐world lake water samples. Subsequent pairing with an artificial intelligence model removed ambiguity in sensor readout, offering 96% true positive and 100% true negative accuracy. Finally, high sensor specificity and stability results supported clinical use, where 100% of urine samples collected from patients with E. coli urinary tract infections are accurately identified. No false positives are observed when testing healthy samples. Ultimately, this platform stands to significantly improve population health by substantially increasing pathogen testing accessibility.
Versatile Biopolymers for Advanced Lithium and Zinc Metal Batteries
Authors: Li Shimei , Zhi Chunyi 
Published: November 2024

AbstractLithium (Li) and zinc (Zn) metals are emerging as promising anode materials for next‐generation rechargeable metal batteries due to their excellent electronic conductivity and high theoretical capacities. However, issues such as uneven metal ion deposition and uncontrolled dendrite growth result in poor electrochemical stability, limited cycle life, and rapid capacity decay. Biopolymers, recognized for their abundance, cost‐effectiveness, biodegradability, tunable structures, and adjustable properties, offer a compelling solution to these challenges. This review systematically and comprehensively examines biopolymers and their protective mechanisms for Li and Zn metal anodes. It begins with an overview of biopolymers, detailing key types, their structures, and properties. The review then explores recent advancements in the application of biopolymers as artificial solid electrolyte interphases, electrolyte additives, separators, and solid‐state electrolytes, emphasizing how their structural properties enhance protection mechanisms and improve electrochemical performance. Finally, perspectives on current challenges and future research directions in this evolving field are provided.
Biopolymeric Ionotronics Based on Biodegradable Wool Keratin
Authors: Zhu Shuihong , Chen Shaohua , Jiang Feng , Fu Cong , Fu Tianqi , Lin Da , Meng Zhaohui , Lin Youhui , Lee Pooi See 
Published: November 2024

AbstractThe advent of ionotronics has revealed significant potential in flexible transistors, energy harvesting, and unconventional circuits. However, most ionotronic devices, often centered around synthetic polymers, involve complex grafting or synthesis that raise legitimate concerns about their environmental sustainability. Herein, a simple yet versatile approach for developing single‐composition ionotronic devices using wool keratin (WK), a biodegradable and pH‐responsive natural polymer is presented. By employing facile pH regulation processes, WK molecules with opposing polarities are successfully modified, which are combined to form an ionic heterojunction through entropically driven depletion. This ionic heterojunction functions as an ionic diode, enabling efficient rectification of alternating current signals (with a rectification ratio of up to 199). Furthermore, the application of this biopolymeric ionotronic device is extended to mechanical energy harvesting, self‐powered sensing, and ionic logic circuit. The biodegradability and renewability of WK offer a viable alternative to synthetic materials, highlighting its potential for sustainable applications.
Ion Migration Enhances the Performance of Perovskite CsPbBr3 γ‐Ray Detectors
Authors: Pan Lei , Bayikadi Khasim Saheb , Pandey Indra Raj , Karki Sujita , Liu Zhifu , Peters John A. , De Siena Michael , Chung Duck Young , Wessels Bruce W. , Kanatzidis Mercouri G. 
Published: November 2024

AbstractUncontrolled ion migration is well‐known in perovskite‐based semiconductor devices. Here, it is shown that instead of being detrimental, ion migration can be used to enhance the performance of perovskite CsPbBr3 semiconductor gamma‐ray detectors. Through the deliberate application of electrical biasing, ion migration is actively controlled to modify the metal‐CsPbBr3 interface barrier height in devices with asymmetric electrodes. Ion migration plays a pivotal role in reducing bulk defects, as evidenced by the contact potential difference measurement, thermally stimulated current spectroscopy and photoluminescence measurements. The evidence suggests that biasing‐induced ion migration in CsPbBr3 results in a reduction in electron traps and significant detector improvement. As biasing at elevated temperatures expedites ion migration, preconditioning the CsPbBr3 crystals through reverse biasing is a promising strategy for enhancing their energy‐resolving performance.
Triboelectrification Based on the Waste Waterproof Textiles for Multisource Energy Harvesting
Authors: Kaja Kushal Ruthvik , Hajra Sugato , Panda Swati , Belal Mohamed A. , Pakawanit Phakkhananan , Vittayakorn Naratip , Bowen Chris , Khanbareh Hamideh , Kim Hoe Joon 
Published: November 2024

AbstractThe demand for sustainable energy resources to power sensor networks such as consumer electronics, agricultural technologies, digital forest management, and home automation is rapidly increasing. There are sustainability challenges to consider, where waste waterproof textiles are critical to encourage the development of a circular economy in the development of new energy technologies. This present work focuses on the utilization of direct waste waterproof textiles to design two types of triboelectric nanogenerator (TENG), which include a liquid‐solid based TENG (L‐S TENG) and a flapper‐type TENG. The bottom electrode configuration for the L‐S TENG and single electric mode working mechanism is considered for the flapper‐type TENG. Waste waterproof textiles can lead to a possible expansion of sustainable material for energy harvesters. The raincoat textile‐based L‐S TENG (L‐STENG‐R) is able to generate 0.5 V at a tilt angle of 50 degrees and power of 0.41 nW. TENGs based on discarded waterproof textiles are further utilized to demonstrate their phase change sensing, along with wind and water energy harvesting. This approach focus on decreasing waste and lower dependency on traditional resources to support environmentally responsible energy alternatives.
H. Pylori‐Facilitated TERT/Wnt/β‐Catenin Triggers Spasmolytic Polypeptide‐Expressing Metaplasia and Oxyntic Atrophy
Authors: He Lijiao , Zhang Xiao , Zhang Shengwei , Wang Yi , Hu Weichao , Li Jie , Liu Yunyi , Liao Yu , Peng Xue , Li Jianjun , Zhao Haiyan , Wang Liting , Lv Yang‐Fan , Hu Chang‐Jiang , Yang Shi‐Ming 
Published: November 2024

AbstractPersistent H. pylori infection triggers the repair program of the mucosa, such as spasmolytic polypeptide‐expressing metaplasia (SPEM). However, the mechanism underlying the initiation of SPEM in gastric tissues by H. pylori remains unclear. Here, an increase in telomerase reverse transcriptase (TERT) protein expression is observed in chief cells upon infection with cagA‐positive H. pylori. Tert knockout significantly ameliorated H. pylori‐induced SPEM and single‐cell RNA sequencing demonstrated that the Wnt/β‐Catenin pathway is suppressed in gastric cells with Tert knockout. Mechanism study revealed that CagA elevated TERT abundance by disrupting the interaction between TERT and its novel E3 ligase, SYVN1. Interestingly, Nitazoxanide effectively relieved SPEM via inhibition of the Wnt/β‐Catenin signaling in vivo. This results clarified the mechanism underlying which CagA activated the TERT/Wnt/β‐Catenin pathway, thus promoting the dedifferentiation of chief cells and the occurrence of SPEM in gastric mucosa. This highlights a molecular basis for targeting CagA‐activated Wnt signaling in chief cells for the treatment of gastric precancerous lesions.