bluuebunny/crossref_metadata_2025_split huggingface dataset:
The “Circular” Problems of Calculating Risk: Dealing with Consanguinity
Authors: Spence M. Anne , Hodge Susan E. 
Published: December 2002

AbstractAn ongoing problem in the genetics clinic is the calculation of inbreeding coefficients and recurrence risks for complex pedigrees, particularly when multiple “loops” are present. Although the Human Genome Project promises information about more of our genes in the foreseeable future, the actual assignment of disease status to specific loci will continue at a slower pace, so that accurate risk calculations are needed. In the past few months several families with consanguinity were referred to us to confirm the calculations performed by the genetic counselor, and we became aware of some confusion in the field. We present here both (a) a clarification of definitions and concepts and (b) a review of how to perform the calculations, for several quantities (coefficient of relationship, coefficient of inbreeding, coefficient of kinship, and recurrence risk), in complex pedigrees. We discuss the availability of computer algorithms to assist in these calculations, and we encourage counselors to call on a reliable computer program for any but the simplest cases. At the same time, we reiterate our belief that computer algorithms do not relieve the counselor of the responsibility of knowing what to calculate and when.
Threat to Parental Role: A Possible Mechanism of Altered Self‐Concept Related to Carrier Knowledge
Authors: McConkie‐Rosell Allyn , DeVellis Brenda M. 
Published: December 2002

AbstractResearchers and clinicians have suggested that learning one is a carrier for a genetic disorder has the potential to alter self‐concept. Concerns about self‐concept have influenced the development of policies regarding the availability of carrier testing for minors and the informed‐consent process. A literature review identified three mechanisms through which self‐concept has been proposed to be affected: altered perception of genetic identity, diminished social identity, and an altered perception of health. This paper presents a conceptual framework developed from identity theory and the “self's response to threat” to propose a fourth mechanism: threat to the parental role. Clarification of the role of self‐concept, the threat to self‐concept related to carrier knowledge, and coping behaviors activated in response to this threat would help to target appropriate genetic counseling interventions.
Who Is at Risk for Psychological Distress in Genetic Testing Programs for Hereditary Cancer Disorders?
Authors: Grosfeld Frans J. M. , Lips Cees J. M. , Beemer Frits A. , ten Kroode Herman F. J. 
Published: December 2002

AbstractPresymptomatic identification of disease gene carriers is becoming an increasingly common part of the clinical management of hereditary cancer disorders. With an expected increase in the number of requests for DNA testing and the limited resources for counseling, the amount of time genetic counselors are able to spend with test candidates will decrease. It is therefore important for counselors to identify persons at risk for psychological distress. Based on a review of experiences with Huntington disease and cancer patients, we describe factors likely to evoke distress in genetic cancer candidates. We also discuss the sometimes widely different ways that test candidates and their partners respond to genetic testing. By exploring risk factors for distress in relevant domains of the research, we can offer counselors guidelines for determining who may need extra counseling.
Adolescent Health Care Needs and Relationship to Disease in Patients With Childhood‐Onset Systemic Lupus Erythematosus
Authors: DeCoste Chelsea , Moaf Paris , Mohamed Ibrahim , Ng Lawrence , Ostojic‐Aitkens Dragana , Levy Deborah M. , Hiraki Linda T. , Toulany Alene , Knight Andrea 
Published: January 2024

ObjectiveOur objective was to characterize adolescent health and psychosocial issues in patients with childhood‐onset systemic lupus erythematosus (cSLE) and evaluate demographic and disease characteristics associated with adolescent health.MethodsWe retrospectively examined adolescents aged 12 to 18 years with cSLE seen at the Hospital for Sick Children meeting the American College of Rheumatology/Systemic Lupus International Collaborating Clinics classification criteria, assessed by adolescent medicine in the cSLE clinic between 2018 and 2020. Adolescent health issues were characterized using the Home, Education/Employment, Activities, Diet/Drugs, Sexuality, Suicide/mood (HEADDSS) framework. Issues were classified as presenting and/or identified; adolescent health burden was tabulated as the number of distinct adolescent issues per patient. Multiple Poisson regression models examined associations between patient and disease characteristics (age, sex, material deprivation, disease activity, disease damage, and high‐dose glucocorticoid exposure) and adolescent health issues.ResultsA total of 108 (60%) of 181 adolescents with cSLE were seen by adolescent medicine, with a median of 2 (interquartile range [IQR] 1–3) visits and a median of 2 (IQR 1–5) adolescent health issues during the study period. Common issues were mood (presenting in 21% vs identified in 50%), sleep (27% vs 2%), school and education (26% vs 1%), and nonadherence (23% vs 8%). Psychoeducation was provided by adolescent medicine to 54% of patients. High‐dose glucocorticoids (risk ratio [RR] 1.82, 95% confidence interval [CI] 1.41–2.35, P < 0.001), material deprivation (RR 1.17, 95% CI 1.04–1.30, P = 0.007), and lower SLE Disease Activity Index scores (RR 0.95, 95% CI 0.92–0.98, P = 0.004) were associated with higher adolescent health burden.ConclusionAdolescents with cSLE experience many adolescent issues, especially low mood. High‐dose glucocorticoids and social marginalization are associated with greater adolescent health burden. This study highlights the importance of addressing adolescent health needs as part of routine care.
A Prospective Observational Study of Disease Severity and Mortality in Hispanic American Patients With Systemic Sclerosis
Authors: Jandali Bochra , Lyons Marka , Charles Julio , Zhang Meng , Theodore Samuel , Pedroza Claudia , Mayes Maureen D. , Assassi Shervin 
Published: January 2024

ObjectiveTo characterize disease manifestations in Hispanic American patients with systemic sclerosis (SSc) in comparison with non‐Hispanic White and Black patients.MethodsLongitudinal clinical characteristics were collected prospectively in the Genetics versus Environment in Scleroderma Outcome Study cohort. All patients fulfilled the classification criteria for SSc and had a disease duration less than five years at enrollment.ResultsA cohort of 427 patients, consisting of 124 Hispanic, 220 non‐Hispanic White, and 83 non‐Hispanic Black participants were examined. At enrollment, Hispanic patients were significantly younger but had longer disease duration, higher frequency of U1‐RNP positivity as well as concurrent systemic lupus erythematosus (SLE) diagnosis, and lower income and educational levels in comparison to non‐Hispanic White patients. Compared with non‐Hispanic Black patients, Hispanic patients had more frequently limited cutaneous involvement and anticentromere antibodies.In the longitudinal analysis, Hispanic patients had significantly lower forced vital capacity percents predicted (point estimate, −9.3%; P < 0.001) than non‐Hispanic White but not Black patients. Hispanic patients had similar longitudinal modified Rodnan Skin Scores like non‐Hispanic White patients but lower measurements than non‐Hispanic Black patients (point estimate, −3.2; P = 0.029). Hispanic patients had significantly higher serially obtained perceived functional disability scores than White patients (point estimate, 0.29; P < 0.001). Hispanic patients also had higher mortality rates than White Americans even after adjustment for age, gender, and socioeconomic statuses.ConclusionHispanic patients have higher likelihood of having U1‐RNP positivity and SLE overlap, more severe restrictive lung disease, as well as higher rate of mortality than non‐Hispanic White patients.
Oxygen‐Supplying Piezocatalytic Therapy of Hypoxic Tumors by Intratumoral Delivery of pH‐Responsive Multicompartmental Carriers with Sequential Drug Release Capability
Authors: Truong Hoang Quan , Kim Do Yeon , Park Hyun Su , Jang Wookyoung , Nguyen Cao Thuy Giang , Kang Ji Hee , Ko Young Tag , Mun Seok Joon , Bhang Suk Ho , Shim Min Suk , Bong Ki Wan 
Published: January 2024

AbstractPiezocatalytic cancer therapy, in which piezoelectric nanomaterials generate reactive oxygen species (ROS) via piezocatalytic redox reactions under mechanical stress, has emerged as an effective strategy for cancer treatment. However, the inherent hypoxia in tumor microenvironments enormously restricts its efficacy. To address this issue, acid‐degradable Janus‐type multicompartmental carriers able to separately encapsulate piezocatalytic gold nanoparticle‐coated poly(ethylene glycol)‐modified zinc oxide nanorods (Au@P‐ZnO NRs) and O2‐generating catalase (CAT) are fabricated in this study using stop‐flow lithography (SFL). The CAT and Au@P‐ZnO NRs are sequentially released by modulating the composition ratios of acid‐cleavable monomers in the precursor solution during the SFL. The sequential release by the Janus carriers significantly increased the intracellular ROS levels under hypoxia conditions upon ultrasound irradiation owing to the O2 supplied by the CAT. An in vivo study showed that a single intratumoral injection of Janus particles encapsulating the CAT and Au@P‐ZnO NRs efficiently alleviated tumor hypoxia and substantially suppressed tumor growth. This study demonstrates that pH‐responsive, O2‐generating, and piezocatalytic Janus carriers have high potential for piezocatalytic therapy of hypoxic tumors and offers insights into using pH‐responsive Janus carriers for efficient hypoxia‐relieving piezocatalytic cancer therapy via the cascade of oxygenation and ROS generation.
Recent Advances in Nanomodulators for Augmenting Cancer Immunotherapy in Cold Tumors: Insights from Drug Delivery to Drug‐Free Strategies
Authors: Zhang Lingxiao , Zhu Chaojie , Zhao Jing , Scimeca Luca , Dong Mingdong , Liu Ruitian , Jia Yingbo , Xu Zhi Ping 
Published: January 2024

AbstractImmunotherapy has significantly improved cancer treatment, yet the immunosuppressive tumor microenvironment (TME) remains a substantial impediment to therapeutic efficacy. Nanomodulators have emerged as promising tools to address immunosuppressive factors within the TME, enhancing clinical interventions such as immunotherapy, chemotherapy, and radiotherapy while minimizing associated safety risks with immune modulators. In this review, recent advancements are spotlighted in TME‐targeted nanomodulators from drug delivery to drug‐free concepts. First, nanomodulators designed to synergize with various immunomodulatory agents, including gene tools (mRNA, siRNA, miRNA, plasmid DNA, and CRISPER system), cytokines, immune agonists, and inhibitors are analyzed. Subsequently, recently developed drug‐free nanomodulators designed to modulate the physicochemical and biological properties in the microenvironment of solid tumors are succinctly presented. Finally, integrative perspectives on the future development and challenges of nanomodulators in assisting cancer immunotherapy are offered as conclusions.
Multiscale Co‐Assembly to Meso‐Macroporous Foamed Single‐Crystal Metal–Organic Frameworks for the Supported Capture of Sulfur Dioxide
Authors: Kan Xun , Zhang Guanqing , Ma Jun , Liu Fengqing , Tang Yu , Liu Fujian , Yi Xianfeng , Liu Yuefeng , Zheng Anmin , Jiang Lilong , Xiao Feng‐Shou , Dai Sheng 
Published: January 2024

AbstractThe introduction of enlarged and interconnected nanochannels into metal–organic frameworks (MOFs) overcome their micropore size restriction, enhances mass transportation, and improves the accessibility of anchored metal clusters. Herein, foamed Ce‐MOF single crystals (F‐Ce‐MOF‐SC‐x) designed from a multiscale co‐assembly is reported in the presence of a copolymer template and 1,3,5‐trimethylbenzene as a structural regulator. The resultant F‐Ce‐MOF‐SC‐x possessed well‐defined microporous tandem‐ordered meso‐macroporous foams with superior connectivity and versatile Ce‐defective unsaturated sites (Ce‐DUS). F‐Ce‐MOF‐SC‐x is applied as a stable carrier for anchoring polytertiary amines (PA) via coordination interactions with Ce‐DUS. Owing to the superior ability of PA to recognize SO2, the resultant F‐Ce‐MOF‐SC‐x@yPA delivers exceptional performance in terms of the high‐temperature reversible adsorption and separation of SO2, including a remarkable capacity for SO2, spectacular selectivity for SO2/CO2/N2, an ultrafast adsorption equilibrium rate, and stability for 50 cycles. These characteristics are outstanding among those of MOFs and superior to those of many reported SO2 adsorbents.
3D Micro‐Flower Structured BiFeO3 Constructing High Energy Efficiency/Stability Potassium Ion Batteries Over Wide Temperature Range
Authors: Guo Jinlin , Wang Lu , Hu Aiguo , Zhang Jie , Xiao Zhubing 
Published: January 2024

AbstractThe fatty K+ ion calls for suitable host materials to meet the requirement for high safety and long‐term stability of potassium‐ion batteries (PIBs) to rival lithium‐ion batteries, thus anode materials possessing high capacity, high stability, and well‐defined plateaus involving favorable working voltage (≈0.5 V) have always been desired. Here, a 3D BiFeO3 with micro‐flower structure (BFO‐MF) constructed by nanosheets is proposed as an anode for PIBs. Density functional theory calculations evidence that the intrinsically favorable affinity and diffusion for K+ ion render fast electrochemical kinetics and attenuated voltage‐hysteresis, and electrochemical measurements indicate that the stable 3D structure of BFO‐MF enables to achieve impressive performances including a high capacity of 606 mAh g−1, flat plateaus at ≈0.5 V, stable performances for 5000 cycles at 500 mA g−1, and 500 cycles at 100 mA g−1 upon −20 °C. In situ and ex situ characterizations definitely elucidate the conversion and alloy/dealloy mechanism. The satisfying features of BFO‐MF anode ensure full‐cells to achieve excellent cyclic performances, and a high energy efficiency retention rate of ≈98.2% for the cathode, with energy density/power density output up to 177.1 Wh kg−1/2152.8 W kg−1, respectively. This work can provide new insights for developing advanced anodes for PIBs.
How Biorecognition Affects the Electronic Properties of Reduced Graphene Oxide in Electrolyte‐Gated Transistor Immunosensors
Authors: Sensi Matteo , de Oliveira Rafael Furlan , Berto Marcello , Paradisi Alessandro , Greco Pierpaolo , Bortolotti Carlo Augusto , Samorì Paolo , Biscarini Fabio 
Published: January 2024

AbstractAmbipolar electrolyte‐gated transistors (EGTs) based on reduced graphene oxide (rGO) have been demonstrated as ultra‐sensitive and highly specific immunosensors. However, the physics and chemistry ruling the device operation are still not fully unraveled. In this work, the aim is to elucidate the nature of the observed sensitivity of the device. Toward this aim, a physical–chemical model that, coupled with the experimental characterization of the rGO‐EGT, allows one to quantitatively correlate the biorecognition events at the gate electrode and the electronic properties of rGO‐EGT is proposed. The equilibrium of biorecognition occurring at the gate electrode is shown to determine the apparent charge neutrality point (CNP) of the rGO channel. The multiparametric analysis of the experimental transfer characteristics of rGO‐EGT reveals that the recognition events modulate the CNP voltage, the excess carrier density Δn, and the quantum capacitance of rGO. This analysis also explains why hole and electron carrier mobilities, interfacial capacitance, the curvature of the transfer curve, and the transconductances are insensitive to the target concentration. The understanding of the mechanisms underlying the transistor transduction of the biorecognition events is key for the interpretation of the response of the rGO‐EGT immunosensors and to guide the design of novel and more sensitive devices.
Increasing the Catalytic Activity of Co3O4 via Boron Doping and Chemical Reduction for Enhanced Acetone Detection
Authors: Zhao Liang , Yu Chengchao , Xin Congcong , Xing Yunpeng , Wei Zefeng , Zhang Hongda , Fei Teng , Liu Sen , Zhang Tong 
Published: January 2024

AbstractOptimally increasing the catalytic activity of Co3O4‐based materials is crucial for promoting their practical applications for acetone detection; however, this still remains challenging. Herein, a strategy is proposed in this work to increase the catalytic activity of Co3O4 toward the oxidation of acetone through the synergistic effect of boron doping and chemical reduction, which can substantially improve the sensing performance for acetone detection. The characterization results confirm that the present strategy facilitates the formation of more oxygen vacancies and increases the content of Co2+ ions serving as active sites. As expected, the optimal sensor yields a higher response . To extend the practical application to the auxiliary diagnosis of diabetes through exhaled breath, the optimal sensors distinguished between acetone concentrations in the breath of healthy individuals and in the simulated breath of patients with diabetes. Detailed gas‐sensing measurements reveal that the enhanced acetone sensing performance is attributed to the increased catalytic activity of materials for oxidation of acetone by the Mars–van Krevelen, Langmuir–Hinshelwood, and Eley–Rideal mechanisms. This study provides new insights into the fabrication of high‐performance metal oxide‐based gas sensors by improving the catalytic activity of sensing materials.
Thermal‐Cyclized Polyacrylonitrile Artificial Protective Layers Toward Stable Zinc Anodes for Aqueous Zinc‐Based Batteries
Authors: Yang Jinzhang , Wang Shuai , Du Lingyu , Bi Songshan , Zhu Jiacai , Liu Lili , Niu Zhiqiang 
Published: January 2024

AbstractAqueous Zn‐based batteries (AZBs) have appealed numerous attentions in the energy storage field due to their low cost, environmental friendliness and high safety. However, the Zn metal anode faces severe challenges of short cycle life because of the dendrite growth and side reactions, which hinders the practical application of AZBs. Herein, an artificial coating layer of cyclized polyacrylonitrile (cPAN) is designed on the Zn anode through spin‐coating and thermal treatment. The cPAN layer possesses abundant N‐containing groups and delocalized π‐conjugation structure, which endows the Zn anode with low nucleation barrier and homogeneous electric field. Benefiting from these synergetic advantages, the nucleation overpotential of Zn is remarkably decreased. Furthermore, no obvious byproduct is observed on the cPANZ‐Zn after cycling. As a result, the resultant cPANZ‐Zn anode delivers a long lifespan of 600 h and high reversibility. cPANZ‐Zn||MnO2 full cells are further assembled and exhibited stable cycling and high rate capability.
Insights into the Heterogeneous Nuclei of an Ultrafast‐Crystallizing Glassy Solid
Authors: Chen Bin , Li Junhua , Wang Xu , Shi Mengchao , Sun Tulai , Xia Mengjiao , Ding Keyuan , Liu Jie , Li Jixue , Tian He , Rao Feng 
Published: January 2024

AbstractCrystallization determines the programming speed of phase‐change memory devices; while, the nucleation phenomenon of many phase‐change materials (PCMs) is not entirely understood, especially concerning the atomic structures and dynamic behaviors of the subcritical nuclei. This is undoubtedly an insurmountable challenge for scandium antimony telluride (ScxSb2Te3) PCM as its subnanosecond‐crystallization nature impedes the real‐time observation of the transient nucleation process. To solve the puzzle, atomic probe tomography and transmission electron microscopy are employed to circumvent the technical difficulties; for the first time, the atomistic information of the heterogeneous nuclei in ScxSb2Te3 is unveiled, such as enriched Sc ≈ 25 at% in core composition, ≈1.0 nm in geometric size, and ≈1023–1024 m−3 in spatial density. The unique nanoscale chemical inhomogeneity ensures the unusual stabilities and dynamics of the early‐stage nuclei, reinforcing them to survive the melt‐quenching action and greatly suppressing the nucleating randomness, thereby facilitating simultaneous and prompt crystal growth throughout the amorphous phase to achieve ultrafast crystallization. The present study offers a new insight into the nonclassical pathways, which will improve understanding and promote better regulation of the nucleation phenomenon in functional materials.
Rescuing Nucleus Pulposus Cells from ROS Toxic Microenvironment via Mitochondria‐Targeted Carbon Dot‐Supported Prussian Blue to Alleviate Intervertebral Disc Degeneration
Authors: Shi Yu , Bu Wenzhen , Chu Dongchuan , Lin Wenzheng , Li Ke , Huang Xueping , Wang Xinglong , Wu Yin , Wu Shang , Li Dandan , Xu Zhuobin , Cao Zhipeng , Chen Hao , Wang Huihui 
Published: January 2024

AbstractIntervertebral disc degeneration (IVDD) is invariably accompanied by excessive accumulation of reactive oxygen species (ROS), resulting in progressive deterioration of mitochondrial function and senescence in nucleus pulposus cells (NPCs). Significantly, the main ROS production site in non‐immune cells is mitochondria, suggesting mitochondria is a feasible therapeutic target to reverse IVDD. Triphenylphosphine (TPP), which is known as mitochondrial‐tropic ligands, is utilized to modify carbon dot‐supported Prussian blue (CD‐PB) to scavenge superfluous intro‐cellular ROS and maintain NPCs at normal redox levels. CD‐PB‐TPP can effectively escape from lysosomal phagocytosis, permitting efficient mitochondrial targeting. After strikingly lessening the ROS in mitochondria via exerting antioxidant enzyme‐like activities, such as superoxide dismutase, and catalase, CD‐PB‐TPP rescues damaged mitochondrial function and NPCs from senescence, catabolism, and inflammatory reaction in vitro. Imaging evaluation and tissue morphology assessment in vivo suggest that disc height index, mean grey values of nucleus pulposus tissue, and histological morphology are significantly improved in the IVDD model after CD‐PB‐TPP is locally performed. In conclusion, this study demonstrates that ROS‐induced mitochondrial dysfunction and senescence of NPCs leads to IVDD and the CD‐PB‐TPP possesses enormous potential to rescue this pathological process through efficient removal of ROS via targeting mitochondria, supplying a neoteric strategy for IVDD treatment.