bluuebunny/crossref_metadata_2025_split huggingface dataset:
Agrobacterium rhizogenes-mediated marker-free transformation and gene editing system revealed that AeCBL3 mediates the formation of calcium oxalate crystal in kiwifruit
Authors: Li Pengwei , Zhang Yiling , Liang Jing , Hu Xufan , He Yan , Miao Tonghao , Ouyang Zhiyin , Yang Zuchi , Amin Abdul Karim , Ling Chengcheng , Liu Yize , Zhou Xiuhong , Lv Xiaoran , Wang Runze , Liu Yajing , Huo Heqiang , Liu Yongsheng , Tang Wei , Wang Songhu 
Published: January 2024

AbstractThe transformation and gene editing of the woody species kiwifruit are difficult and time-consuming. The fast and marker-free genetic modification system for kiwifruit has not been developed yet. Here, we establish a rapid and efficient marker-free transformation and gene editing system mediated by Agrobacterium rhizogenes for kiwifruit. Moreover, a removing-root-tip method was developed to significantly increase the regeneration efficiency of transgenic hairy roots. Through A. rhizogenes-mediated CRISPR/Cas9 gene editing, the editing efficiencies of CEN4 and AeCBL3 achieved 55 and 50%, respectively. And several homozygous knockout lines for both genes were obtained. Our method has been successfully applied in the transformation of two different species of kiwifruit (Actinidia chinensis ‘Hongyang’ and A.eriantha ‘White’). Next, we used the method to study the formation of calcium oxalate (CaOx) crystals in kiwifruit. To date, little is known about how CaOx crystal is formed in plants. Our results indicated that AeCBL3 overexpression enhanced CaOx crystal formation, but its knockout via CRISPR/Cas9 significantly impaired crystal formation in kiwifruit. Together, we developed a fast maker-free transformation and highly efficient CRISPR-Cas9 gene editing system for kiwifruit. Moreover, our work revealed a novel gene mediating CaOx crystal formation and provided a clue to elaborate the underlying mechanisms.
Graphical abstract
Intensive care following in-hospital cardiac arrest / periarrest calls—experience from one Scottish hospital
Authors: McCallum Andrew R. , Cowan Richard , Rooney Kevin D. , McConnell Paul C. 
Published: January 2024

Abstract
Background
In-hospital cardiac arrest/periarrest is a recognised trigger for consideration of admission to the intensive care unit (ICU). We aimed to investigate the rates of ICU admission following in-hospital cardiac arrest/periarrest, evaluate the outcomes of such patients and assess whether anticipatory care planning had taken place prior to the adult resuscitation team being called.

Methods
Analysis of all referrals to the ICU page-holder within our district general hospital is between 1st November 2018 and 31st May 2019. From this, the frequency of adult resuscitation team calls was determined. Case notes were then reviewed to determine details of the events, patient outcomes and the use of anticipatory care planning tools on wards.

Results
Of the 506 referrals to the ICU page-holder, 141 (27.9%) were adult resuscitation team calls (114 periarrests and 27 cardiac arrests). Twelve patients were excluded due to health records being unavailable. Admission rates to ICU were low — 17.4% for cardiac arrests (4/23 patients), 5.7% (6/106) following periarrest. The primary reason for not admitting to ICU was patients being “too well” at the time of review (78/129 — 60.5%). Prior to adult resuscitation team call, treatment escalation plans had been completed in 27.9% (36/129) with Do Not Attempt Cardiopulmonary Resuscitation (DNACPR) forms present in 15.5% of cases (20/129). Four cardiac arrest calls were made in the presence of a valid DNACPR form, frequently due to a lack of awareness of the patient’s resuscitation status.

Conclusions
This study highlights the significant workload for the ICU page-holder brought about by adult resuscitation team calls. There is a low admission rate from these calls, and, at the time of resuscitation team call, anticipatory planning is frequently either incomplete or poorly communicated. Addressing these issues requires a collaborative approach between ICU and non-ICU physicians and highlights the need for larger studies to develop scoring systems to aid objective admission decision-making.
The impact of different data handling strategies on the proportion of children classified as meeting 24-h movement guidelines and associations with overweight and obesity
Authors: Pfledderer Christopher D. , Burkart Sarah , Dugger Roddrick , Parker Hannah , von Klinggraeff Lauren , Okely Anthony D. , Weaver R. Glenn , Beets Michael W. 
Published: January 2024

Abstract
Background
Despite the widespread endorsement of 24-h movement guidelines (physical activity, sleep, screentime) for youth, no standardized processes for categorizing guideline achievement exists. The purpose of this study was to illustrate the impact of different data handling strategies on the proportion of children meeting 24-h movement guidelines (24hrG) and associations with overweight and obesity.

Methods
A subset of 524 children (ages 5–12 years) with complete 24-h behavior measures on at least 10 days was used to compare the impact of data handling strategies on estimates of meeting 24hrG. Physical activity and sleep were measured via accelerometry. Screentime was measured via parent self-report. Comparison of meeting 24hrG were made using (1) average of behaviors across all days (AVG-24 h), (2) classifying each day and evaluating the percentage meeting 24hrG from 10 to 100% of their measured days (DAYS-24 h), and (3) the average of a random sample of 4 days across 10 iterations (RAND-24 h). A second subset of children (N = 475) with height and weight data was used to explore the influence of each data handling strategy on children meeting guidelines and the odds of overweight/obesity via logistic regression.

Results
Classification for AVG-24 h resulted in 14.7% of participants meeting 24hrG. Classification for DAYS-24 h resulted in 63.5% meeting 24hrG on 10% of measured days with < 1% meeting 24hrG on 100% of days. Classification for RAND-24 h resulted in 15.9% of participants meeting 24hrG. Across 10 iterations, 63.6% of participants never met 24hrG regardless of the days sampled, 3.4% always met 24hrG, with the remaining 33.0% classified as meeting 24hrG for at least one of the 10 random iterations of days. Using AVG-24 h as a strategy, meeting all three guidelines associated with lower odds of having overweight obesity (OR = 0.38, 95%CI: 0.21–0.70, p < 0.05). The RAND-24 h strategy produced a range of odds from 0.27 to 0.56. Using the criteria of needing to meet 24hrG on 100% of days, meeting all three guidelines associated with the lowest odds of having overweight and obesity as well (OR = 0.04, 95%CI: 0.01–0.18, p < 0.05).

Conclusions
Varying estimates of meeting the 24hrG and the odds of overweight and obesity results from different data handling strategies and days sampled.
Pancreatic Cancer Action Network's SPARK: A Cloud-Based Patient Health Data and Analytics Platform for Pancreatic Cancer
Authors: Abdilleh Kawther , Khalid Omar , Ladnier Dennis , Wan Wenshuai , Seepo Sara , Rupp Garrett , Corelj Valentin , Worman Zelia F. , Sain Divya , DiGiovanna Jack , Press Bruce , Chandrashekhar Satty , Collisson Eric , Cui Karen Y. , Maitra Anirban , Rejto Paul A. , White Kevin P. , Matrisian Lynn , Doss Sudheer 
Published: January 2024

PURPOSE Pancreatic cancer currently holds the position of third deadliest cancer in the United States and the 5-year survival rate is among the lowest for major cancers at just 12%. Thus, continued research efforts to better understand the clinical and molecular underpinnings of pancreatic cancer are critical to developing both early detection methodologies as well as improved therapeutic options. This study introduces Pancreatic Cancer Action Network's (PanCAN's) SPARK, a cloud-based data and analytics platform that integrates patient health data from the PanCAN's research initiatives and aims to accelerate pancreatic cancer research by making real-world patient health data and analysis tools easier to access and use. MATERIALS AND METHODS The SPARK platform integrates clinical, molecular, multiomic, imaging, and patient-reported data generated from PanCAN's research initiatives. The platform is built on a cloud-based infrastructure powered by Velsera. Cohort exploration and browser capabilities are built using Velsera ARIA, a specialized product for leveraging clinicogenomic data to build cohorts, query variant information, and drive downstream association analyses. Data science and analytic capabilities are also built into the platform allowing researchers to perform simple to complex analysis. RESULTS Version 1 of the SPARK platform was released to pilot users, who represented diverse end users, including molecular biologists, clinicians, and bioinformaticians. Included in the pilot release of SPARK are deidentified clinical (including treatment and outcomes data), molecular, multiomic, and whole-slide pathology images for over 600 patients enrolled in PanCAN's Know Your Tumor molecular profiling service. CONCLUSION The pilot release of the SPARK platform introduces qualified researchers to PanCAN real-world patient health data and analytical resources in a centralized location.
Symmetry transformations and novel solutions for the graphene thermophoretic motion equation with variable heat transmission using Lie group analysis
Authors: Gaballah Mahmoud , El-Shiekh Rehab M. 
Published: January 2024

Abstract
The single-layer graphene flake is an amazing tool in recent industry, it has many uses in biosensors, photonics and water filtration because of its outstanding electronic, thermal, and mechanical properties. In this letter, we have studied the graphene variable heat transmission thermophoretic motion (vcGT) equation using the symmetry group method. As a result, a Lie group of four vector fields is yielded. By using a linear combination of those vector fields the vcGT equation becomes a nonlinear ordinary differential equation, and by using the F-expansion technique then different types of solitary waves like periodic Jacobi elliptic waves, soliton, kink soliton and trigonometric waves were found which cover other solutions in the literature such as solitons and have additional new solutions like the periodic Jaocbi waves. Finally, we have discussed the effect of the variable heat transmission on the wave propagation for three different wave structures: Jacobi periodic wave, bright soliton and the trigonometric sec wave. It was found that in the real physical situation corresponding to the variable heat transmission the waves take a parabolic shape.
Hyperglycemia Suppresses Lactate Clearance During Exercise in Type 1 Diabetes
Authors: Romeres Davide , Yadav Yogesh , Ruchi F N U , Carter Rickey , Cobelli Claudio , Basu Rita , Basu Ananda 
Published: January 2024

Abstract

Context
Circulating lactate concentration is an important determinant of exercise tolerance.

Objective
This work aimed to determine the role of hyperglycemia on lactate metabolism during exercise in individuals with type 1 diabetes (T1D).

Methods
The protocol at the University of Virginia compared 7 T1D participants and 7 participants without diabetes (ND) at euglycemia (5.5 mM) or hyperglycemia (9.2 mM) in random order in T1D and at euglycemia in ND. Intervention included [1-13C] lactate infusion, exercise at 65% maximal oxygen uptake (VO2max), euglycemia, and hyperglycemia visits. The main outcome measure was lactate turnover before, during, and after 60 minutes of exercise at 65% VO2max.

Results
A 2-compartment model with loss only from the peripheral compartment described lactate kinetics. Volume of distribution of the accessible compartment was similar between T1D and ND individuals (P = .76) and concordant with plasma volume (∼40 mL/kg). Circulating lactate concentrations were higher (P &lt; .001) in T1D participants during exercise at hyperglycemia than euglycemia. Exercise-induced lactate appearance did not differ (P = .13) between hyperglycemia and euglycemia. However, lactate clearance (CL) was lower (P = .03) during hyperglycemia than euglycemia in T1D participants. There were no differences in any of the aforementioned parameters between T1D and ND participants during euglycemia.

Conclusion
Hyperglycemia modulates lactate metabolism during exercise by lowering CL, leading to higher circulating lactate concentrations in T1D individuals. This novel observation implies that exercise during hyperglycemia can lead to higher circulating lactate concentrations thus increasing the likelihood of reaching the lactate threshold sooner in T1D, and has high translational relevance both for providers and recreationally active people with T1D.
The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
Authors: Mauri Sílvia , Nieto-Moragas Javier , Obón María , Oriola Josep 
Published: January 2024

Abstract
Glucocorticoid resistance syndrome is a rare genetic condition characterized by generalized or partial target-tissue insensitivity to glucocorticoids and a consequent hyperactivation of the hypothalamic-pituitary-adrenal axis. Clinical manifestations may include mineralocorticoid and/or androgen excess without manifestations of Cushing syndrome. At a cellular level, glucocorticoid actions are mediated by the nuclear glucocorticoid receptor encoded by the NR3C1 gene. To date, only 33 glucocorticoid receptor loss-of-function pathogenic variants have been associated with glucocorticoid resistance syndrome. The NR3C1 gene has 2 known disease-causing mechanisms: haploinsufficiency and negative dominance. We describe a mother and her son with a mild hyperandrogenic phenotype and a novel genetic variant of the NR3C1 gene predicting a truncated protein and causing glucocorticoid resistance syndrome. To date, no accurate genotype-phenotype correlation has been found.
Incidental Diagnosis of Williams Syndrome in an Adult With Recurrent Hypercalcemia
Authors: Tersteeg Seth , Bakhutashvili Vladimer , Crook Margaret , Ferris Heather A 
Published: January 2024

Abstract
Williams syndrome (WS) is a rare genetic disorder with multisystem involvement associated with hypercalcemia. The cause of this hypercalcemia is poorly understood and while primarily associated with WS children, it is also observed in adults. A 51-year-old woman with intellectual disability, renal insufficiency, recurrent pancreatitis, and intermittent hypercalcemia despite partial parathyroidectomy presented with hypercalcemia to 14 mg/dL (3.49 mmol/L; normal 8.6-10.5 mg/dL [2.12-2.62 mmol/L]) at routine follow-up. Laboratory testing was notable for acute-on-chronic renal failure with unremarkable vitamin D, urine calcium, and parathyroid hormone. She presented to the emergency department and was admitted. Treatment with bisphosphonates, calcitonin, and intravenous fluids decreased calcium to 9.4 mg/dL (2.35 mmol/L) and improved kidney function. She was discharged with recommendations for increased oral hydration, a low-calcium diet, and outpatient follow-up. Her phenotype was suspicious for WS, later confirmed with genetic testing. This case exemplifies both the increased risk of hypercalcemia in WS adults and the need to consider WS in hypercalcemic adults with intellectual disability. It also serves to illustrate the importance of recognizing WS features in potentially undiagnosed adults and reviews guidelines for hypercalcemia surveillance and management in WS adults.
Understanding Islet Autoantibodies in Prediction of Type 1 Diabetes
Authors: Jia Xiaofan , Yu Liping 
Published: January 2024

AbstractAs screening studies and preventive interventions for type 1 diabetes (T1D) advance rapidly, the utility of islet autoantibodies (IAbs) in T1D prediction comes with challenges for early and accurate disease progression prediction. Refining features of IAbs can provide more accurate risk assessment. The advances in islet autoantibodies assay techniques help to screen out islet autoantibodies with high efficiency and high disease specificity. Exploring new islet autoantibodies to neoepitopes/neoantigens remains a hot research field for improving prediction and disease pathogenesis. We will review the recent research progresses of islet autoantibodies to better understand the utility of islet autoantibodies in prediction of T1D.
Enabling neighbour labelling: using synthetic biology to explore how cells influence their neighbours
Authors: Malaguti Mattias , Lebek Tamina , Blin Guillaume , Lowell Sally 
Published: January 2024

ABSTRACT
Cell-cell interactions are central to development, but exploring how a change in any given cell relates to changes in the neighbour of that cell can be technically challenging. Here, we review recent developments in synthetic biology and image analysis that are helping overcome this problem. We highlight the opportunities presented by these advances and discuss opportunities and limitations in applying them to developmental model systems.
Impact of frailty on outcomes of elderly patients undergoing percutaneous coronary intervention: A systematic review and meta-analysis
Authors: Wang Shi-Shi , Liu Wang-Hao 
Published: January 2024

BACKGROUNDFrailty is a common condition in elderly patients who receive percutaneous coronary intervention (PCI). However, how frailty affects clinical outcomes in this group is unclear.AIMTo assess the link between frailty and the outcomes, such as in-hospital complications, post-procedural complications, and mortality, in elderly patients post-PCI.METHODSThe PubMed/MEDLINE, Embase, Cochrane Library, and Web of Science databases were screened for publications up to August 2023. The primary outcomes assessed were in-hospital and all-cause mortality, major adverse cardiovascular events (MACEs), and major bleeding. The Newcastle-Ottawa Scale was used for quality assessment.RESULTSTwenty-one studies with 739693 elderly patients undergoing PCI were included. Frailty was consistently associated with adverse outcomes. Frail patients had significantly higher risks of in-hospital mortality [risk ratio: 3.45, 95% confidence interval (95%CI): 1.90-6.25], all-cause mortality [hazard ratio (HR): 2.08, 95%CI: 1.78-2.43], MACEs (HR: 2.92, 95%CI: 1.85-4.60), and major bleeding (HR: 4.60, 95%CI: 2.89-7.32) compared to non-frail patients.CONCLUSIONFrailty is a pivotal determinant in the prediction of risk of mortality, development of MACEs, and major bleeding in elderly individuals undergoing percutaneous coronary intervention.
Labial inverse dilaceration of bilateral maxillary central incisors: A case report
Authors: Wang Jun-Min , Guo Li-Feng , Ma Li-Qiong , Zhang Jing 
Published: January 2024

BACKGROUND
Dilaceration is a rare dental developmental anomaly characterized by an abrupt deviation along the longitudinal axis of the root in which an angulation forms between the root and the crown. Here, we report on dilacerated bilateral maxillary central incisors in mixed dentition.
CASE SUMMARY
A 10-year-old girl presented with a chief complaint of unerupted central incisors. An oral examination and radiography provided the basis for a diagnosis of dilaceration of the maxillary central incisors. After surgical exposure of the impacted teeth, a button with an attached chain was applied to the palatal surface of teeth 11 and 21. After 8 mo, a button was bonded to the labial surface of the crown to fix an elastic chain and move the teeth toward the maxillary arch. Finally, a fixed appliance was applied to tooth alignment to Class 1 malocclusion using a 0.019 × 0.025-inch nickel-titanium wire. After 3 years of follow-up, the clinical findings and radiographic assessment showed that the roots had developed with vital dental pulp and healthy periodontium, were acceptable aesthetically, and showed no resorption.
CONCLUSION
The rare occurrences of dilacerated bilateral maxillary central incisors can be successfully treated through surgical exposure and orthodontics.
DOES INFLAMMATORY AND METABOLOMIC ACTIVITY ON NORMAL AND OSTEOARTHRITIC CHONDROCYTES DIFFER BETWEEN MESENCHYMAL STEM CELLS (MSCS) DERIVED FROM THE INFRAPATELLAR FAT, SYNOVIUM, AND SUBCUTANEOUS TISSUES?
Authors: Karaçoban L. , Gizer M. , Fidan B. Basak , Kaplan O. , Çelebier M. , Korkusuz P. , Turhan E. , Korkusuz F. 
Published: January 2024

Osteoarthritis (OA) is a disabling disease depriving the quality of life of patients. Mesenchymal stem cells (MSCs) are recently used to modify the inflammatory and degenerative cascade of the disease. Source of MSCs could change the progression and symptoms of OA due to their different metabolomic activities. We asked whether MSCs derived from the infrapatellar fat (IPF), synovium (Sy) and subcutaneous (SC) tissues will decrease inflammatory and degenerative markers of normal and OA chondrocytes and improve regeneration in culture. Tissues were obtained from three male patients undergoing arthroscopic knee surgery due to sports injuries after ethical board approval. TNFa concentration decreased in all MSC groups (Sy=156,6±79, SC=42,1±6 and IPF=35,5±3 pg/ml; p=0,036) on day 14 in culture. On day seven (Sy=87,4±43,7, SC=23±8,9 and IPF=14,7±3,3 pg/ml, p=0,043) and 14 (Sy=29,1±11,2, SC=28,3±18,5 and IPF=20,3±16,2 pg/ml, p=0,043), MMP3 concentration decreased in all groups. COMP concentration changes however were not significant. Plot scores of tissues for PC2-13,4% were significantly different. Based on the results of liquid chromatography-mass spectrometry (LC-MS) metabolomics coupled with recent data processing strategies, clinically relevant seven metabolites (L-fructose, a-tocotrienol, coproporphyrin, nicotinamide, bilirubin, tauro-deoxycholic acid and galactose-sphingosine) were found statistically different (p<0.05 and fold change>1.5) ratios in tissue samples. Focusing on these metabolites as potential therapeutics could enhance MSC therapies.Acknowledgment: Hacettepe University, Scientific Research Projects Coordination Unit (#THD-2020-18692) and Turkish Society of Orthopedics and Traumatology (#TOTBID-89) funded this project. Feza Korkusuz MD is a member of the Turkish Academy of Sciences (TÜBA).
THE ROLE OF MECHANOSENSORY NEURONS IN MUSCULOSKELETAL DISEASES
Authors: Ma S. , Dubin A. , Romero L. , Loud M. , Salazar A. , Chu S. , Klier N. , Masri S. , Zhang Y. , Wang Y. , Chesler A. , Wilkinson K. , Vásquez V. , Marshall K. , Patapoutian A. 
Published: January 2024

Distal arthrogryposis (DA) is a collection of rare developmental disorders characterized by congenital joint contractures. Most arthrogryposis mutations are in muscle- and joint-related genes, and the anatomical defects originate cell-autonomously within the musculoskeletal tissues. However, gain-of-function (GOF) mutations in PIEZO2, a principal mechanosensor in somatosensation, cause DA subtype 5 via unknown mechanisms. We show that expression of a GOF PIEZO2 mutation in proprioceptive sensory neurons mainly innervating muscle spindles and tendons is sufficient to induce DA5-like phenotypes in mice. Overactive PIEZO2 causes anatomical defects via increased activity within the peripheral nervous system during postnatal development. Surprisingly, overactive PIEZO2 is likely to cause joint abnormalities via increased exocytosis from sensory neuron endings without involving motor circuitry. This reveals a role for somatosensory neurons: excessive mechanosensation within these neurons disrupts musculoskeletal development. We also present proof-of-concept that Botox injection or dietary treatment can counteract the effect of overactive PIEZO2 function to evade DA-like phenotypes in mice when applied during a developmental critical period. These approaches might have clinical applications. Beyond this, our findings call attention to the importance of considering sensory mechanotransduction when diagnosing and treating other musculoskeletal disorders.Acknowledgements: Our work is supported by National Institutes of Health grant (R35 NS105067, R01 DE022358, R25 SC3GM127195, R25 GM07138, R01GM133845, intramural) and Howard Hughes Medical Institute.