bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid leukemia and t(8;11)(p11.2;p15): a case report
Authors: Mojarad Bahareh A. , Crees Zachary D. , Schroeder Molly C. , Xiang Zhifu , Vader Justin , Sina Jason , Frater John , Duncavage Eric J. , Spencer David H. , Lavine Kory , Neidich Julie , Amarillo Ina 
Published: February 2022

Abstract
Background: Only rare cases of acute myeloid leukemia (AML) have been shown to harbor a t(8;11)(p11.2;p15.4). This translocation is believed to involve the fusion of NSD3 or FGFR1 with NUP98; however, apart from targeted mRNA quantitative PCR analysis, no molecular approaches have been utilized to define the chimeric fusions present in these rare cases.Case Presentation: Here we present the case of a 51-year-old female with AML with myelodysplastic-related morphologic changes, 13q deletion and t(8;11), where initial fluorescence in situ hybridization (FISH) assays were consistent with the presence of NUP98 and FGFR1 rearrangements, and suggestive of NUP98/FGFR1 fusion. Using a streamlined clinical whole-genome sequencing approach, we resolved the breakpoints of this translocation to intron 4 of NSD3 and intron 12 of NUP98, indicating NUP98/NSD3 rearrangement as the underlying aberration. Furthermore, our approach identified small variants in WT1 and STAG2, as well as an interstitial deletion on the short arm of chromosome 12, which was cryptic in G-banded chromosomes.Conclusions: NUP98 fusions in acute leukemia are predictive of poor prognosis. The associated fusion partner and the presence of co-occurring mutations, such as WT1, further refine this prognosis with potential clinical implications. Using a clinical whole-genome sequencing analysis, we resolved t(8;11) breakpoints to NSD3 and NUP98, ruling out the involvement of FGFR1 suggested by FISH while also identifying multiple chromosomal and sequence level aberrations.
Synchronous serous carcinoma arising in adenomyosis and small cell carcinoma of ovary - pulmonary type (SCOOPT): a case report and literature review
Authors: Jing Qiuyang , He Ying 
Published: February 2022

Abstract
Background: Serous carcinoma arising in adenomyosis is rare, only 8 cases have been reported in the literature. Primary small cell carcinoma of ovary - pulmonary type (SCOOPT) is a rare, aggressive entity associated with poor outcomes and limited treatment options. The two malignant tumors synchronously happen at one patient has never been reported before.Case presentation: We summarized and analyzed the clinicopathological features of 1 serous carcinoma arising in adenomyosis synchronous with SCOOPT and reviewed the literature. A 60-year-old postmenopausal woman presented to our hospital with abdominal distension, abdominal pain, and constipation. Colonoscopy and computed tomography (CT) scan of pulmonary showed no abnormalities. Ultrasonography and CT scan revealed a solid-cystic mass in the pelvic cavity, slightly thickened uterine myometrium at the fundus with heterogeneous echo. A total abdominal hysterectomy, bilateral salpingo-oophorectomy, and pelvic and para-aortic lymphadenectomy were performed. The final pathology showed serous carcinoma originating from adenomyosis, while the eutopic endometrium and both fallopian epithelia were identified with no cancer. The solid-cystic mass in the right ovary is diagnosed with SCCOPT and metastasis to the myometrium of the uterus. The prognosis of previously reported cancers of adenomyosis origin and SCOOPT were both poor, while our case was alive without disease during the 6-month follow-up.Conclusion: We believe this case report will expand our recognition of the coexistence of serous carcinoma arising in adenomyosis with small cell carcinoma of the ovary–pulmonary type (SCOOPT).
First Case of Colorectal Cancer Treated by Multimodal Therapy: A Case Study with A Review of Literature
Authors: Diallo Maladho Tanta , Ali Muhammad , Long Ziyang , Zhang Qi , Zhang Cangyuan , Wang Yang , Ding Jianyue , Zhu Xiaodong , Jiang Mingrui , Ren Jun , Sun Qiannan , Wang Daorong 
Published: February 2022

Abstract
Background
Colorectal cancer remains an incurable disease despite progress in treatment over the past few years.
Methods
In this report, we presented a case on colon cancer leading to the development (metastasis) of colorectal cancer in a 56-year-old woman. Preoperative colonoscopy was performed, and diagnosis revealed a malignant tumor of the colon with a tumor of the abdominal wall, a secondary malignant tumor of the abdominal cavity, a malignant tumor of the ovary. The biopsies revealed a metastatic or invasive grade I-II adenocarcinoma. Laparoscopic was performed after few days.
Results
During the surgery a metastasis of about 3 cm was found and the metastasis of the pelvic cavity showed that the anterior wall of the rectum and the cervical stump have recurrence of about 4 cm and some small intestinal cancerous adhesions were present in the lesion. Afterwards, the biopsy specimens were reanalyzed, and immunohistological analysis shown this as cancerous tissue.
Conclusion
When colorectal cancer is detected in a patient with a history of colon cancer and bilateral metastatic ovarian adenocarcinoma, the physician should be very observant of the condition as there is the possibility of recidivism due to poor prognosis. Surgery is the only curative treatment for metastatic colorectal cancer.
Modeling GLUT1 deficiency syndrome in a Petri Dish using induced pluripotent stem cells: A preliminary report
Authors: Al-Ahmad Abraham Jacob , Pervaiz Iqra , Tuz-Zahra Fatema , Mikelis Constantinos 
Published: February 2022

Abstract
Background: Glucose is an important source of energy for the central nervous system. The entry of glucose is tightly regulated by the blood-brain barrier (BBB), mediated mostly through the presence of glucose transporter 1 (GLUT1), a facilitated transporter belonging to the solute carrier superfamily (SLCs). GLUT1 Deficiency Syndrome (GLUT1DS) is a haploinsufficiency characterized by mutations in the SLC2A1 gene and resulting in impaired glucose uptake at the BBB. This preliminary study provides the characterization of a novel GLUT1DS in vitro model based on an established human induced pluripotent stem cell line (iPSC) genetically edited by CRISPR/Cas9.Methods: The human iPS(IMR90)-c4 iPSC cell line was genetically edited via CRISPR/Cas9, resulting in a SLC2A1+/- genotype (GLUT1DS-iPSC). Cells were differentiated in brain microvascular endothelial cells (iBMECs) as previously reported. Cells were characterized in terms of SLC2A1 expression, changes in the barrier function, and glucose uptake.Results: Two GLUT1DS-iPSC clones were generated and characterized in this study: C7 and E8. In undifferentiated iPSCs, both showed comparable phenotype than their parental control, and both differentiated into iBMECs. Both C7- and E8-iBMECs showed a decrease in GLUT1 expression, with C7 showing accentuated decrease. No major disruption in the barrier function was reported. However, we noted a significant decrease in glucose uptake in both clones.Conclusions: Our study provides the first documented characterization of GLUT1DS-iBMECs generated by CRISPR-Cas9, showing little effect on SLC2A1 deletion on the ability of iPSCs to differentiate into iBMECs and their ability to form tight monolayers. However, an impaired glucose uptake associated with increased mitochondrial respiration and impaired angiogenesis suggests that such deletion may affect other functions in endothelial cells. Hence, a further investigation of how SLC2A1 depletion impacts brain endothelial cells and other cellular components of the neurovascular unit is needed.
Clinico - Pathological profiles of pancytopenia in University of Gondar Comprehensive Specialized Hospital, Gondar, Northwest Ethiopia : a retrospective cross-sectional, 2018-2021
Authors: Kindie Endeshaw Asaye , Yefter Ermias Teklehaimanot 
Published: February 2022

Abstract
Introduction: Pancytopenia can be caused by a wide variety of etiologies, leading to a diagnostic dilemma. These etiologies range from congenital bone marrow failure to marrow space-occupying lesions, infection, and peripheral destruction, to name a few. Bone marrow examination, in addition to a detailed clinical history, is often required for an accurate diagnosis. This study aimed to provide a brief overview of causes of pancytopenia in adults and children by age and sex with emphasis on bone marrow findings. Methods: A retrospective descriptive cross-sectional study was conducted from January 2018 to January 2021 in the Department of Pathology, College of Medicine and Health Sciences, University of Gondar Comprehensive Specialized Hospital, Gondar, Northwest Ethiopia based on bone marrow aspiration finding results. Results: There were 720 patients who had pancytopenia, 548(76%) were males and 172(24%) were females. The most common cause of pancytopenia in our study was megaloblastic anemia 385(53.5%) followed by Hyperreactive Malarial Splenomegaly 170(23.6%), leukemia 70(9.7%), VL 40(5.6%), aplastic anemia and stage IV RVI per se each 20(2.8%) and others 15(2.1%). Most age group affected by pancytopenia were 11–30 yrs and the most common presenting symptom and sign was fatigue and splenomegaly respectively. Conclusions: This study showed that the most common cause of pancytopenia was megaloblastic anemia and that is reversible by therapy. Thus in pancytopenia, thorough evaluation has to be done to identify the cause at the earliest, so the treatable causes are identified without delay and the patient is benefited.
Endocrine Therapy Recommendation for Estrogen Receptor Positive (ER + ) Metastases Advanced Breast Cancer using Machine Learning Algorithms
Authors: Lokare Reena , Patil Sunita 
Published: February 2022

Abstract
Artificial Intelligence (AI) technology has shown tremendous contribution in various applications like Speech Recognition, Expert Systems, Computer Vision, Robotics, Gaming etc. Machine Learning (ML) and Deep Learning (DL) algorithms under AI address problems such as prediction, classification and regression. AI has touched many domains like Finance, Healthcare, Retail, Travel, Media etc. The results or the predictions generated by these algorithms are not easily accepted by the user with the apprehension as what AI promises, how can they guarantee it? Especially the Healthcare domain is facing a great challenge in accepting the results or the predictions with the concern, are AI results reliable, correct and ethical? Doctors or medical practitioners aren’t ready to treat patients on the basis of results or suggestions generated by AI algorithms. Hence, a technology which can explain how the results returned by AI algorithms are trustworthy, transparent and interpretable was strongly needed. This need has given rise to the latest technology-Explainable Artificial Intelligence (XAI). With the use of XAI, all the predictions, classifications made by AI algorithms are explainable, auditable, comprehensive, validating and socially acceptable. This study will help medical practitioners and other researchers to use XAI for reliable, trustworthy and explainable results or suggestions provided by AI, ML, DL algorithms not only in healthcare but all other sectors adopting these technologies.
Adopting a Proxy Database to Prevent Direct Access to Distributed Transaction Databases Ensuring Information Security
Authors: Ali Mohammad Ghulam 
Published: February 2022

Abstract
In this scientific and technical practical-oriented research paper, I have proposed a concept of Proxy Database to prevent direct access to distributed transaction databases and also ensuring the data and information security. I have also implemented this approach in my one live project. A Proxy Database is created using a set of proxy tables and views from all relational distributed databases running for all different domains for any organization/institution. Creating a proxy table, this is an alternative way of looking at the data in one or more tables and this is also an alternate way of looking at the data through one or more views from relational distributed databases. Proxy table provides indirect access to the data in the distributed table(s) of the distributed databases. Location transparency of the local data at the local distributed databases will definitely be maintained by creating a proxy table. A proxy table will be mapped with the local distributed table and tables in the form of view. A schema for all proxy tables created, that resides in the Proxy Database, but the data resides in each local distributed databases. I have proposed a practical framework to construct a Proxy Database with a set of proxy tables created from all local relational distributed databases which are being used for all different domains. Two or more proxy tables may further be merged to get results from two or more local distributed tables located in the respective distributed databases. I have also illustrated some methods of creating a Proxy Database with some examples. I have illustrated about the query submitted on the proxy table without join, union or intersect and this is straightway go to the respective local distributed table(s) or tables in the form of view and sending back results to the concerned client user. I have also illustrated about the query submitted using join, union or intersect on two or more proxy tables, query decomposition with a set of sub queries going to the respective local distributed tables or tables in the form of view, execution of each individual sub-query at each local distributed database server and finally about the query composition of all sub-queries and sending back results to the concerned client user. I have also discussed well about the network security proposing a viable solution by implementing a software firewall. I have also discussed about the local distributed databases structure modifications and propagation to the Proxy Database so that all the local distributed databases and the Proxy Database remain consistent.
Fat-Burning Or Fat-Shaming? Theme And Community Overlap Between Online Weight-Stigmatizing And Exercise-Promoting Networks.
Authors: Rojas-Sánchez Ahuitz , Harris Jenine K. , Sarrazin Philippe , Chalabaev Aïna 
Published: February 2022

Abstract
Purpose: This study aimed to determine if networks of users consistently posting about exercise and fat exist and overlap on social media sites.Method: We collected 1,971,207 English-language posts from 1,446,630 Twitter users that included the words “fat” and “exercise”. Using network structure methods, we identified communities of interconnected users and overlaps between those tweeting “fat” and those tweeting “exercise”. Results: Common word pairings were identified using Natural Language Processing (NLP). Networks of users consistently talking about exercise (n=3,573) and fat (n=2,007) were found on Twitter. An increased mean total-degree and reduced average path length indicate that the fitness-talk network serves as a connecting bridge between highly scattered communities of the weight-talk network. Conclusion: We identified groups on Twitter that consistently produce weight stigmatizing content and promote exercise with weight-loss messages. These groups partially overlap with pro-health groups which could lead to users looking for exercise advice in Twitter to find themselves immersed in a stigmatizing network.Level of evidence:
The Effect of Optimum Stimulation Level and Exploratory Information Seeking on Online Purchase Intention
Authors: Demir Didem 
Published: February 2022

Abstract
The purpose of this article is to determine the effects of the exploratory information seeking tendencies of extroverted individuals resulting from the arousal on online purchase intention. The survey data were collected from 401 respondents in Adana, Turkey. The results reveal that extrovert people who have differences in their level of arousal tend to have exploratory information seeking. Furthermore it was also found that these components have an impact on online purchase intention. Theocratical and practical implications of the findings are discussed through the results of the study.
Feasibility of Intelligent Drug Control in the Maintenance Phase of General Anesthesia Based on Convolutional Neural Network
Authors: Ren Wei , CHEN JIAO , Liu Jin , Fu Zhongliang , Yao Yu , Chen Xiaoqing , Teng Long 
Published: February 2022

Abstract
Background: The growth and aging process of human population have accelerated the increase in surgical procedures. Yet, the demand for increasing operations can be hardly met since the cultivation of anesthesiologists is usually a long-term process. Closed-loop artificial intelligence (AI) model provides the possibility to solve intelligent decision-making for anesthesia auxiliary control and, as such, has allowed breakthroughs in closed-loop control of clinical practices in intensive care units (ICUs). However, applying open-loop artificial intelligence algorithm to build up personalized medication for anesthesia still needs to be further explored. Currently, anesthesiologists have selected doses of intravenously pumped anesthetic drugs mainly based on the blood pressure and bispectral index (BIS), which can express the depth of anesthesia. Unfortunately, BIS cannot be monitored in some medical centers or operational procedures, and can only be regulated by blood pressure. As a result, here we aim to inaugurally explore the feasibility of basic intelligent control system applied to drug delivery in the maintenance phase of general anesthesia, based on an AI model with open-loop design, according to AI learning of existing anesthesia protocols.Methods: A convolutional neural network, combined with both sliding window sampling method and residual learning module, was utilized to establish an "AI anesthesiologist" model for intraoperative dosing of personalized anesthetic drugs (propofol and remifentanil). The fitting degree and difference in pumping dose decision, between the AI anesthesiologist and the clinical anesthesiologist, for these personalized anesthetic drugs were examined during the maintenance phase of anesthesia.Results: The medication level established by the “AI anesthesiologist” was comparable to that obtained by the clinical anesthesiologist during the maintenance phase of anesthesia.Conclusion: The application of an open-loop decision-making plan by convolutional neural network showed that intelligent anesthesia control is consistent with the actual anesthesia control, thus providing possibility for further evolution and optimization of auxiliary intelligent control of depth of anesthesia.
The undergraduate experience of the transition of the obstetrics and gynaecology programme to blended learning in response to the COVID-19 pandemic
Authors: Tuthill Emma H , Kennelly Mairead M , Bowes Laura , O'Malley Eimer G , Fitzpatrick Chris , Turner Michael J 
Published: February 2022

Abstract
Background: The Covid 19 pandemic radically changed our lives worldwide in 2020. Control of the pandemic required public health interventions which included social distancing and the minimising social gatherings. The implementation of these measures resulted in major changes in the delivery of healthcare education.Aim: This observational study reports on the undergraduate experience of the transition of the obstetrics and gynaecology programme from a traditional face-to-face approach to a blended learning programme (BLP) in response to the COVID-19 pandemic.Methods: Changes to the undergraduate Obstetrics and Gynaecology programme in response to the pandemic are described. These changes were implemented with no additional funding or resources. On completion of the module, students voluntarily completed an anonymous survey on their experience of the BLP.Results: Of the 80 students who completed the module, 81% responded. Overall satisfaction with the module was high with median scores for all online and clinical components of the module ranging from 8 - 10. The students expressed high levels of satisfaction with the support they received from their teachers, hospital staff and patients. Conclusions: To our knowledge, this paper is the first to describe the transition of the entire undergraduate module in Obstetrics and Gynaecology to a BLP in response to the COVID-19 pandemic. The overall satisfaction scores submitted anonymously were high. Whether this will be maintained post pandemic remains unknown but the positive response to the BLP provides direction as to what elements of the revised programme may be worth developing further in the future.
RELATO DE EXPERIÊNCIA: PROBLEMÁTICAS E ESTRATÉGIAS PARA O ENSINO DE QUÍMICA
Authors: Almeida Célio dos Santos , Neves Bianca Ferreira , Yamaguchi Klenicy Kazumy de Lima 
Published: February 2022

O presente trabalho visa abordar as experiências vivenciadas durante o período de estágio supervisionado de Ensino III desenvolvida na disciplina de Química do 1° 2° e 3° ano do Ensino Médio em uma escola estadual da rede pública de ensino no Município de Coari-AM. O estudo tem como objetivo apresentar as problemáticas detectadas em sala de aula e as estratégias utilizadas para o ensino da disciplina. A metodologia baseia-se em um relato de experiência, de caráter descrito e qualitativo, centrada nas turmas de 1° e 2° ano, nas quais foram feitas observações da didática da supervisora e regências utilizando métodos diversificados. O estágio solidificou os conhecimentos obtidos na universidade através das disciplinas de Química e do eixo pedagógico que foram fundamentais para o desenvolvimento das atividades e para adquirir uma experiência da docência no Ensino Médio.
Cocaine: From a Controlled Drug by the DEA to an Approved Drug by the FDA
Authors: Galvis Carlos E. Puerto , Kouznetsov Vladimir V. 
Published: February 2022

Abstract:
NumbrinoTM, a nasal anesthetic solution based on cocaine hydrochloride, has recently
been approved by the FDA for diagnostic procedures and surgery – now, what will be
the role of the controlling agencies and the legislation of producing countries to face the imminent
medicinal use of cocaine? Would chemistry be the protagonist in proposing alternative
approaches to help and overcome this issue? The debate is open with this commentary.