bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel RBBP8 (c.841G&gt;T) germline mutation is a predisposition mutation in familial hereditary cancer syndrome
Authors: Yan Jinhua , Wu Jinzheng , Wang Yang , Di Xiaotang , Jiang Hao , Wen Doudou , Zhang Shubing 
Published: January 2023

Abstract
Background: Screening tumor susceptibility genes will be found powerful biomarkers for hereditary cancer monitoring, prevention and diagnosis, which providing opportunities for understanding the potential molecular mechanism and biomarker for precise treatment of hereditary cancer syndromes.
Methods: Whole blood exon sequencing and bioinformatics analysis uncovers a novel RBBP8 (c.841G>T) germline mutation in this familial hereditary cancer syndrome, and verified by sanger sequencing. Cell proliferation, clone formation, cell migration, in vivo tumorigenesis were investigated by CCK8, clone formation assays, transwell, in vivo xenograft. The protein localization and interaction were detected by immunofluorescence, nuclear and cytoplasmic protein extraction kit and Co-IP.
Results: A new heterozygous germline mutation of RBBP8 (c.841G>T) gene was associated with familial hereditary cancer syndrome. Unlike RBBP8-WT is mainly detected in the nucleus and could interact with BRCA1. Opposite, RBBP8(c.841G>T) is mainly located in the cytoplasm and lost interact with BRCA1, which may gain some new functions in the cytoplasm to promote breast cancer proliferation, in vivo tumorigenesis and migration. Meanwhile, patients with RBBP8(c.841G>T) germline mutation maybe benefit from PARP inhibitors (Olaparib) and platinum (Cisplatin).
Conclusions: A de novo RBBP8 (c.841G>T) germline mutation was identified from familial hereditary cancer syndrome. RBBP8 (c.841G>T) lost its ability to enter the nucleus and BRCA1 binding motif, which may gain some new functions to promote tumorigeneses in the cytoplasm. RBBP8 (c.841G>T) is a tumor susceptibility gene and candidate precision medicine biomarker in this familial hereditary cancer syndrome.
Gastric metastasis of renal cell carcinoma and molecular targeted therapy: a case report
Authors: Zhang Simeng , Liu Ruiqing , Zheng Longbo , Ma Zheng , Zhang Zhenqi , Wang Dongsheng S. 
Published: January 2023

Abstract
Renal cell carcinoma is a common tumor of the urinary system, accounting for 80%~85% of all primary renal tumors. It has a strong metastatic ability, but gastric metastasis of renal cell carcinoma is rare. A 75-year-old male patient was admitted to our hospital for laparoscopic right radical nephrectomy in 2017 due to the identification of space-occupying lesions in the right kidney on physical examination. Postoperative pathology showed right renal clear cell carcinoma (size 3.5 * 3 cm, WHO/ISUP classification, grade III). No further treatment was administered after the operation, but regular reexamination was performed. In August 2022, gastroscopyrevealed a slightly raised ulcer approximately 1.0 cm in diameter on the greater curvature of the gastric body, and biopsy material was obtained from the lesion. Combined with HE morphology, immunohistochemistry, and clinical history, gastric metastasis of renal cell carcinoma was diagnosed. Considering that the lesion was not suitable for endoscopic resection, oral sunitinibmolecular targeted drug therapy was started. To date, the patient is generally in good condition, and no new metastasis or expansion of the lesion has beenobserved on auxiliary examinations.
Economic value of mangrove ecosystem services in the coastal area of Bintan Island, Indonesia
Authors: Arkham Muhammad Nur , Riadi Septa , Wahyudin Yudi , Krisnafi Yaser 
Published: January 2023

Abstract
The mangrove ecosystem in Bintan Regency provides many benefits, both directly and indirectly, for the people around it. Mangrove ecosystem services also vary and play a role in adaptation and mitigation processes in the face of climate change. Oil pollution that occurs every year in Bintan Regency has a negative impact both ecologically and economically. This research aims to estimate the value of mangrove ecosystem services in the East and North Coastal Areas of Bintan Island, which can be used as a basis for the management of the Area. The data collection method used was a survey using a questionnaire on fishermen, tourists, tourism managers, and the surrounding community. In addition, it also collects some secondary data to support data analysis. The results of the study state that the estimated economic value of mangrove ecosystem services is Rp. 135,663,899,478.30/year from a mangrove area of 4,354.11 ha. The economic value consists of providing services by 61%, regulatory services by 21%, supporting services by 2%, and cultural services by 16%. This estimate can be used as a basis for policies and strategies for mangrove conservation and social welfare, as well as a consideration in making claims related to damage to the coastal and marine environment as a result of oil spills and others that often occur in the Bintan Island Area.
Attack-Defense Tree-based Security Analysis and Optimal Defense Synthesis for System Design
Authors: Meng Baoluo , Viswanathan Arjun , Saswata Saswata , William William , Moitra Abha , Siu Kit , Durling Michael 
Published: January 2023

Abstract
Attack-Defense Trees (ADTrees) are widely used in the security analysis of software systems. In this work, we introduce a novel approach to analyze system architecture models via ADTrees and to synthesize an optimal cost defense solution using MaxSMT. We generate an ADTree from the Architecture Analysis and Design Language (AADL) model with its possible attacks, and implemented defenses. We analyze these ADTrees to see if they satisfy their cyber-requirements. We then translate the ADTree into a set of logical formulas, that encapsulate both the logical structure of the tree, and the constraints on the cost of implementing the corresponding defenses, such that a minimization query to the MaxSMT solver returns a set of defenses that mitigate all possible attacks with minimal cost. We provide an initial evaluation of our tool on a delivery drone system model which shows promising results.
Current trends in the diagnosis and treatment of acute tumor lysis syndrome in children: a review
Authors: Matinyan Nune V. , Valiev T. T. , Martynov L. A. , Akimov V. P. , Kovaleva E. A. , Buidenok Yu. V. 
Published: January 2023

INTRODUCTION: Acute tumor lysis syndrome (ATLS) complicates the treatment of highly aggressive leukemia, lymphomas in children and is accompanied by a fatal outcome in 21.4 % of patients. The basis of ATLS is the decay of tumor cells, in which the volume of decay products exceeds the excretory capabilities of the kidneys. The ATLS risk group includes patients with acute lymphoblastic leukemia accompanied by hyperleukocytosis (above 100×109/L) and non-Hodgkin's lymphomas with a large tumor mass (III–IV stages of the disease). To date, the volume of thematic publications in the aggregator of the PubMed medical database is not so large: over the past 10 years, there have been 12 articles, which makes the task of systematizing previously accumulated and recently received information even more relevant for the practitioner. OBJECTIVE: Generalization of the modern scientific base for the diagnosis and treatment of ATLS in children. MATERIALS AND METHODS: To highlight the modern scientific base concerning the diagnosis and treatment of ATLS in children with oncohematological diseases, a search was conducted in PubMed, Research Gate, Web of Science Core Collection and Google Scholar systems for the period from 2000 to August 2022. RESULTS: In total, 94 articles were found, including 1 systematic review with meta-analysis and 16 review articles that meet the requirements. CONCLUSIONS: Conservative ATLS prophylaxis is effective in 93.4–93.6 % of patients. However, in 8.8–21.4 % of patients, ATLS acquires a rapid character, accompanied by the lack of the ability to conservatively correct the indicators of potassium, phosphorus, uric acid. Additional study of the pathogenetic mechanisms of the complication, identification of key targets of drug therapy and a multidisciplinary approach in the treatment of an extremely prognostically unfavorable group of oncohematological patients with advanced stages of the tumor process are possible components of further improving the effectiveness of ATLS therapy.
Adherence to treatment in intensive care units on the example of pediatric sepsis: a review
Authors: Mironov Petr I. , Аleksandrovich Yu. S. , Pshenisnov K. V. , Akhmetshin R. Z. , Potapov V. S. 
Published: January 2023

INTRODUCTION: Intensive care does not always require only a large amount of resources. An important aspect is the formation of a multidisciplinary team involved in the treatment of patients in critical condition. OBJECTIVE: To demonstrate the need for the staff of intensive care units to use protocols for the diagnosis and treatment of critical conditions on the example of sepsis in children. MATERIALS AND METHODS: The analysis of publications devoted to the study of the impact of the implementation of the clinical recommendations of the Surviving Sepsis Campaign for the treatment of sepsis in children on the outcomes of the disease. The articles were searched in the abstract databases PubMed, Embase, Cochrane Central Register of Controlled Trials, Web of Science Core Collection and Google Scholar for the period from 2011 to July 2022. Keywords were used: “pediatric sepsis”, “implementation”, “protocolized treatment”, “adherence”. RESULTS: During the search, only thirteen observational studies were found, nine of which were presented retrospectively, which can be attributed to the design flaws of the submitted works. It was revealed that the use of the entire complex of diagnostic and therapeutic measures presented in clinical recommendations and protocols for intensive therapy of sepsis in children can significantly improve the results of treatment, but the commitment of doctors to their use in routine clinical practice remains low and does not exceed 40 %. CONCLUSIONS: The main reason for the lack of commitment to the implementation of recommendations and standards for the treatment of sepsis in children is not only in the presence of organizational obstacles, but also in the absence of reasonable algorithms for its implementation.
Towards a risk ranking for improved management of discharges of fats, oils, and greases (FOG) from food outlets
Authors: Collin Thomas , Cunningham Rachel , MacAdam Jitka , Villa Raffaella , Jefferson Bruce , Jeffrey Paul 
Published: January 2023

Abstract
The understanding of fats, oils, and greases (FOG) pathways in commercial kitchens is relatively poor. In this contribution, we extend our understanding of how FOG is perceived and managed by those working within food service establishments (FSEs). A questionnaire (n = 107) exposes awareness of and experiences with FOG and characterises two important behaviours: kitchen appliance cleaning regimes and waste management practices. Findings demonstrate that awareness of issues caused by FOG in sewer networks is independent of job role or position and that a majority of respondents (74%) are acquainted with the impacts of poor FOG management. Application of a risk ranking approach revealed a low risk of emissions from waste frying oils and exposed behaviours which can serve to reduce FOG emission potential including pre-rinsing of plates and cleaning of fryers and extraction hoods. Critically, 69% of FSEs had no means of managing their FOG emissions. We conclude that sampled FSEs were generally unaware of the relative contribution of FOG sources, thereby limiting their ability to respond to the behavioural and technological options available for minimising its impact. The risk ranking developed in this paper could be used to suggest efforts to reduce and mitigate FOG emissions from FSEs.
Estimation and mapping of water quality parameters using satellite images: a case study of Two Rivers Dam, Kenya
Authors: Omondi Alice Nureen , Ouma Yashon , Kosgei Job Rotich , Kongo Victor , Kemboi Ednah Jelagat , Njoroge Simon Mburu , Mecha Achisa Cleophas , Kipkorir Emmanuel Chessum 
Published: January 2023

AbstractThe continuous water quality monitoring (WQM) of watersheds and the existing water supplies is a crucial step in realizing sustainable water development and management. However, the conventional approaches are time-consuming, labor intensive, and do not give spatial–temporal variations of the water quality indices. The advancements in remote sensing techniques have enabled WQM over larger temporal and spatial scales. This study used satellite images and an empirical multivariate regression model (EMRM) to estimate chlorophyll-a (Chl-a), total suspended solids (TSS), and turbidity. Furthermore, ordinary Kriging was applied to generate spatial maps showing the distribution of water quality parameters (WQPs). For all the samples, turbidity was estimated with an R2 and Pearson correlation coefficient (r) of 0.763 and 0.818, respectively while TSS estimation gave respective R2 and r values of 0.809 and 0.721. Chl-a was estimated with accuracies of R2 and r of 0.803 and 0.731, respectively. Based on the results, this study concluded that WQPs provide a spatial–temporal view of the water quality in time and space that can be retrieved from satellite data products with reasonable accuracy.
When Serum C-Peptide Measurement Drives Adequate Diabetes Mellitus
Diagnosis and Therapy: A Case Report
Authors: Piazzolla Giuseppina , Lisco Giuseppe , Volpe Sara , Triggiani Domenico , Triggiani Vincenzo 
Published: January 2023

Background:
Therapeutic targets in type 2 diabetes mellitus (T2D) are oriented towards nephron- and cardio-protection and the prescription of antihyperglycemic agents with proven renal and cardiovascular benefits are increasing over time. Failure to promptly diagnose insulinopenic diabetes may adversely affect the adequacy of treatment and have harmful consequences, including severe hyperglycemia and diabetic ketoacidosis.

Case Presentation:
Herein we present the case of a 57-year-old woman referred to our clinic due to
poor glycemic control (HbA1c 80 mmol/mol, therapeutic target <53 mmol/mol), class III obesity
(BMI 41 kg/m2; normal value <25 kg/m2), and high cardiovascular risk misdiagnosed with T2D
several years before. C-peptide measurement (0.3 ng/dL; reference range 1.1 – 4.4 ng/mL) confirmed
the diagnosis of an insulinopenic form of diabetes, and the islet autoimmunity was consequently
measured (GADA 2,000 UA/mL, reference range <5 UA/mL; IA2 17.1 UA/mL, reference range
<7.5 UA/mL) and defined the diagnosis of an autoimmune form of diabetes.

Discussion:
Deprescribing insulin therapy in T2D patients in favor of other antihyperglycemic medications has become a growing therapeutic opportunity to provide adequate glucose control, promote weight loss, improve insulin sensitivity, and ameliorate cardiovascular and renal outcomes. However, due to immediate problems, a blunted insulin reserve poses a significant restriction on the prescription of non-insulin agents (e.g., diabetic ketoacidosis due to gliflozins). According to our experience, the routine testing of insulin reserve provides detailed information on diabetes pathophysiology with positive implications for the appropriateness of pharmacological prescriptions.

Conclusion:
As part of our routine evaluation of diabetic patients, C-peptide measurement is a valuable and inexpensive tool to reclassify diabetes types and provide more appropriate disease management.
Metabolites Study of Experimental Plant Derived Alkaloids: A Review
Authors: Manna Kuntal , Somraj Singh Waikhom , Goswami Sanchari , Ashif  Ikbal Abu Md , Rajkhowa Amlanjyoti , Debnath Bikash 
Published: January 2023

Abstract:
Alkaloids are waste products of plant metabolic processes, containing at least one nitrogen
atom in the heterocyclic ring. They serve a wide variety of physiological functions in humans and animals.
Metabolism plays a central role in regulating the toxicity of various phytochemicals. Available literature
of biological sources and metabolism study of pyrrolidine, pyrrolizidine, pyridine, quinoline, isoquinoline,
phenanthrene, phenethylamine, indole, terpenoid, and aporphine groups of experimental plantsderived
alkaloids were collected from the Google Scholar, PubMed/Medline, Science Direct, Scopus,
Wiley Online Library, and Web of Science search engines. The literature reveals that hepatic microsomal
enzymes such as monooxygenase and putative NADPH-FMN-reductase, carboxyl esterase, CYP2B6,
CYP3A4, and CYP2D6 are primarily involved in the metabolism of alkaloids. This review may encourage
natural product researchers to further research and develop new plant-derived alkaloidal drugs.
Rehabilitation Approaches and Strategies in the Management of Adult Patients Following Pelvic Fractures: Protocol for a Scoping Review
Authors: Sobantu Ntombenkosi Appears , Tshabalala Muziwakhe Daniel , Chetty Verusia 
Published: January 2023

Background
Pelvic fractures can lead to disability and a poor health-related quality of life, thereby contributing to the burden of disease in South Africa. Rehabilitation plays an important role in improving the functional outcomes in patients with pelvic fractures. However, there is limited published research that presents optimal interventions and guidelines to improve outcomes in affected individuals.

Objective
The purpose of this study is to examine and map the range of and gaps in rehabilitation approaches and strategies used by health care professionals globally in the management of adult patients with pelvic fractures.

Methods
The synthesis of evidence will follow the framework outlined by Arksey and O’Malley and supported by the Joanna Briggs Institute. The identification of research questions; the identification of relevant studies; the selection of eligible studies; charting data; collating, summarizing, and reporting of the results; and consultation with relevant stakeholders will be undertaken. Peer-reviewed articles written in English; from quantitative, qualitative, and mixed methods studies; and searched through Google Scholar, MEDLINE, PubMed, and Cochrane Library will be considered. Studies eligible for selection will be full-text articles written in English about adult patients with pelvic fractures. Studies on children with pelvic fractures and on interventions following pathological pelvic fractures as well as opinion papers and commentaries will be excluded from the study. Rayyan software will be used for title and abstract screening to determine inclusion in the study and to improve collaboration between the reviewers. The Mixed Methods Appraisal Tool (version 2018) will be used to appraise the quality of the studies.

Results
This protocol will guide a scoping review to examine and map the range of and gaps in rehabilitation approaches and strategies used by health care professionals globally in the management of adult patients with pelvic fractures, irrespective of level of care. Impairments, activity limitations, and participation restrictions in patients with pelvic fractures will be highlighted, which will give an indication of the rehabilitation needs of the affected individuals. Results of this review might provide evidence for health care professionals, policy makers, and scholars to aid rehabilitative care and further integration of patients into health care systems and community.

Conclusions
The rehabilitation needs of patients with pelvic fractures will be drawn from this review and will be presented in a flow diagram. Rehabilitation approaches and strategies in the management of patients with pelvic fractures will be identified to guide health care professionals in the promotion of quality health care for these patients.

Trial Registration
OSF Registries osf.io/k6eg8; https://osf.io/k6eg8

International Registered Report Identifier (IRRID)
PRR1-10.2196/38884
Making Sense of Theories, Models, and Frameworks in Digital Health Behavior Change Design: Qualitative Descriptive Study
Authors: Voorheis Paula , Bhuiya Aunima R , Kuluski Kerry , Pham Quynh , Petch Jeremy 
Published: January 2023

Background
Digital health interventions are increasingly being designed to support health behaviors. Although digital health interventions informed by behavioral science theories, models, and frameworks (TMFs) are more likely to be effective than those designed without them, design teams often struggle to use these evidence-informed tools. Until now, little work has been done to clarify the ways in which behavioral science TMFs can add value to digital health design.

Objective
The aim of this study was to better understand how digital health design leaders select and use TMFs in design practice. The questions that were addressed included how do design leaders perceive the value of TMFs in digital health design, what considerations do design leaders make when selecting and applying TMFs, and what do design leaders think is needed in the future to advance the utility of TMFs in digital health design?

Methods
This study used a qualitative description design to understand the experiences and perspectives of digital health design leaders. The participants were identified through purposive and snowball sampling. Semistructured interviews were conducted via Zoom software. Interviews were audio-recorded and transcribed using Otter.ai software. Furthermore, 3 researchers coded a sample of interview transcripts and confirmed the coding strategy. One researcher completed the qualitative analysis using a codebook thematic analysis approach.

Results
Design leaders had mixed opinions on the value of behavioral science TMFs in digital health design. Leaders suggested that TMFs added the most value when viewed as a starting point rather than the final destination for evidence-informed design. Specifically, these tools added value when they acted as a gateway drug to behavioral science, supported health behavior conceptualization, were balanced with expert knowledge and user-centered design principles, were complementary to existing design methods, and supported both individual- and systems-level thinking. Design leaders also felt that there was a considerable nuance in selecting the most value-adding TMFs. Considerations should be made regarding their source, appropriateness, complexity, accessibility, adaptability, evidence base, purpose, influence, audience, fit with team expertise, fit with team culture, and fit with external pressures. Design leaders suggested multiple opportunities to advance the use of TMFs. These included improving TMF reporting, design, and accessibility, as well as improving design teams' capacity to use TMFs appropriately in practice.

Conclusions
When designing a digital health behavior change intervention, using TMFs can help design teams to systematically integrate behavioral insights. The future of digital health behavior change design demands an easier way for designers to integrate evidence-based TMFs into practice.