bluuebunny/crossref_metadata_2025_split huggingface dataset:
Social engineering in cybersecurity: a domain ontology and knowledge graph application examples
Authors: Wang Zuoguang , Zhu Hongsong , Liu Peipei , Sun Limin 
Published: August 2021

AbstractSocial engineering has posed a serious threat to cyberspace security. To protect against social engineering attacks, a fundamental work is to know what constitutes social engineering. This paper first develops a domain ontology of social engineering in cybersecurity and conducts ontology evaluation by its knowledge graph application. The domain ontology defines 11 concepts of core entities that significantly constitute or affect social engineering domain, together with 22 kinds of relations describing how these entities related to each other. It provides a formal and explicit knowledge schema to understand, analyze, reuse and share domain knowledge of social engineering. Furthermore, this paper builds a knowledge graph based on 15 social engineering attack incidents and scenarios. 7 knowledge graph application examples (in 6 analysis patterns) demonstrate that the ontology together with knowledge graph is useful to 1) understand and analyze social engineering attack scenario and incident, 2) find the top ranked social engineering threat elements (e.g. the most exploited human vulnerabilities and most used attack mediums), 3) find potential social engineering threats to victims, 4) find potential targets for social engineering attackers, 5) find potential attack paths from specific attacker to specific target, and 6) analyze the same origin attacks.
Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report
Authors: García-Cano Laura , Brouzet Thomas André , García-Fernández Amaya , Ibáñez-Criado José Luis , Monteagudo-Viana Marta , Ibáñez-Criado Alicia , Martínez-Martínez Juan Gabriel 
Published: August 2021

Abstract
Background
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary channelopathy characterized by the presence of ventricular arrhythmias triggered by adrenergic stimuli, usually diagnosed in the first two decades of life. Genetic variants in the cardiac ryanodine receptor gene are the most frequently occurring that cause an increase in intracellular calcium concentration and thus induce ventricular arrhythmias due to a delayed after depolarisation-induced triggered activity.

Case presentation
We present the case of a 74-year-old male, a regular athlete with no relevant family history who suffered from sinus dysfunction and frequent premature ventricular complexes with no symptoms. A treadmill test revealed severe polymorphic ventricular arrhythmias which led to the suspicion of CPVT. A genetic study was undertaken, and it identified a rare genetic variant in the RYR2 gene which was possibly associated with its development in heterozygosity: c.14465G > A, p.Arg4822His. While evaluating the co-segregation, we observed that most of his relatives exhibit polymorphic ventricular arrhythmias with exertion without symptoms and carried the same variant.

Conclusions
We described, for the first time, the clinical characteristics and co-segregation of a family diagnosed with CPVT secondary to a little-known genetic variant of the RYR2 gene. It is a variant that, in our case study, suggests an association with a very good prognosis.
Enlightening the black and white: species delimitation and UNITE species hypothesis testing in the Russula albonigra species complex
Authors: De Lange Ruben , Adamčík Slavomír , Adamčíkova Katarína , Asselman Pieter , Borovička Jan , Delgat Lynn , Hampe Felix , Verbeken Annemieke 
Published: August 2021

ABSTRACTRussula albonigra is considered a well-known species, morphologically delimited by the context of the basidiomata blackening without intermediate reddening, and the menthol-cooling taste of the lamellae. It is supposed to have a broad ecological range and a large distribution area. A thorough molecular analysis based on four nuclear markers (ITS, LSU, RPB2 and TEF1-α) shows this traditional concept of R. albonigra s. lat. represents a species complex consisting of at least five European, three North American, and one Chinese species. Morphological study shows traditional characters used to delimit R. albonigra are not always reliable. Therefore, a new delimitation of the R. albonigra complex is proposed and a key to the described European species of R. subgen. Compactae is presented. A lectotype and an epitype are designated for R. albonigra and three new European species are described: R. ambusta, R. nigrifacta, and R. ustulata. Different thresholds of UNITE species hypotheses were tested against the taxonomic data. The distance threshold of 0.5% gives a perfect match to the phylogenetically defined species within the R. albonigra complex. Publicly available sequence data can contribute to species delimitation and increase our knowledge on ecology and distribution, but the pitfalls are short and low quality sequences.
Promoting computational thinking through project-based learning
Authors: Shin Namsoo , Bowers Jonathan , Krajcik Joseph , Damelin Daniel 
Published: August 2021

AbstractThis paper introduces project-based learning (PBL) features for developing technological, curricular, and pedagogical supports to engage students in computational thinking (CT) through modeling. CT is recognized as the collection of approaches that involve people in computational problem solving. CT supports students in deconstructing and reformulating a phenomenon such that it can be resolved using an information-processing agent (human or machine) to reach a scientifically appropriate explanation of a phenomenon. PBL allows students to learn by doing, to apply ideas, figure out how phenomena occur and solve challenging, compelling and complex problems. In doing so, students take part in authentic science practices similar to those of professionals in science or engineering, such as computational thinking. This paper includes 1) CT and its associated aspects, 2) The foundation of PBL, 3) PBL design features to support CT through modeling, and 4) a curriculum example and associated student models to illustrate how particular design features can be used for developing high school physical science materials, such as an evaporative cooling unit to promote the teaching and learning of CT.
Psychological and behavioral complications in children and adolescents with type 1 diabetes mellitus in Sohag
Authors: Hadad Saber , Ali Magda Mohamed , Sayed Taher Abdelraheem 
Published: August 2021

Abstract
Background
Type 1 diabetes mellitus is a chronic disease mainly diagnosed in children and adolescents. It has multiple psychiatric comorbidities. Our aim in this study was to determine the prevalence of psychological and behavioral problems in children and adolescents diagnosed with type 1 diabetes and to find if there is a strong correlation between these problems and different epidemiological- and disease-related factors such as age of the child, duration of diabetes, and other risk factors. We conducted a cross-sectional study and compared between 564 children diagnosed with diabetes mellitus type 1 (who attended Specialized Health Insurance Clinic in Sohag City, Upper Egypt, during the year 2018/2020) and 564 non-diabetic children matched with the diabetic children for age, sex, and socio-economic status. We used “Strengths and Difficulties Questionnaire (SDQ)” to screen for behavioral, social, and emotional problems in diabetic and control children. “SDQ” is a 25-item brief behavioral screening questionnaire that consists of five subscales which are emotional problems, hyperactivity-inattention problems, conduct problems, peer problems, and prosocial behavior subscales. It generates total score and individual score for each subscale.

Results
In our study, we found that diabetic children had significantly higher prevalence of emotional and behavioral problems than control children (92.37% of diabetic children versus 20.2% of control children had abnormal total SDQ score with P value < 0.001). All subscales of SDQ except prosocial subscale were significantly affected in children with type 1 diabetes mellitus than control children with P value < 0.001. Certain factors were significantly associated with impaired subscales of SDQ scale. We found a positive correlation between age and emotional, hyperactivity and conduct problems as these problems were more frequent in older children. Female children had more hyperactivity and conduct problems than male children (68.6%, 71.7% vs. 58.0%, 62.0%, P 0.002 and 0.003, respectively) while male children were more affected by emotional problems than female children (68% vs. 57.4%, P 0.003). Peer problems were more prevalent in children of parents with higher educational level. Children with positive family history of diabetes were less affected by emotional problems than children with negative family history (50% vs.64.3%, P 0.04). Longer duration of disease was associated with increased prevalence of peer and emotional problems. Poor control of diabetes increased the prevalence of conduct and emotional problems (P 0.007 and 0.022, respectively).

Conclusion
Children with type 1 diabetes mellitus have more emotional, hyperactivity, conduct, and peer problems than non-diabetic children. These findings indicate a need to screen diabetic children and adolescents for behavioral and emotional problems and treat these problems if found.
The integrative bioinformatic analysis deciphers the predicted molecular target gene and pathway from curcumin derivative CCA-1.1 against triple-negative breast cancer (TNBC)
Authors: Novitasari Dhania , Jenie Riris Istighfari , Kato Jun-ya , Meiyanto Edy 
Published: August 2021

AbstractBackgroundThe poor outcomes from triple-negative breast cancer (TNBC) therapy are mainly because of TNBC cells’ heterogeneity, and chemotherapy is the current approach in TNBC treatment. A previous study reported that CCA-1.1, the alcohol-derivative from monocarbonyl PGV-1, exhibits anticancer activities against several cancer cells, as well as in TNBC. This time, we utilized an integrative bioinformatics approach to identify potential biomarkers and molecular mechanisms of CCA-1.1 in inhibiting proliferation in TNBC cells.MethodsGenomics data expression were collected through UALCAN, derived initially from TCGA-BRCA data, and selected for TNBC-only cases. We predict CCA-1.1 potential targets using SMILES-based similarity functions across six public web tools (BindingDB, DINIES, Swiss Target Prediction, Polypharmacology browser/PPB, Similarity Ensemble Approach/SEA, and TargetNet). The overlapping genes between the CCA-1.1 target and TNBC (CPTGs) were selected and used in further assessment. Gene ontology (GO) enrichment and the Kyoto Encyclopedia of Genes and Genomes (KEGG) network analysis were generated in WebGestalt. The protein–protein interaction (PPI) network was established in STRING-DB, and then the hub-genes were defined through Cytoscape. The hub-gene’s survival analysis was processed via CTGS web tools using TCGA database.ResultsKEGG pathway analysis pointed to cell cycle process which enriched in CCA-1.1 potential targets. We also identified nine CPTGs that are responsible in mitosis, includingAURKB,PLK1,CDK1,TPX2,AURKA,KIF11,CDC7,CHEK1, andCDC25B.ConclusionWe suggested CCA-1.1 possibly regulated cell cycle process during mitosis, which led to cell death. These findings needed to be investigated through experimental studies to reinforce scientific data of CCA-1.1 therapy against TNBC.
One-year outcome of laparoscopic sleeve gastrectomy in morbidly obese adolescents
Authors: El ghazeery Mohamed , Elsawaf Mohamed , Ashour Mohamed , Metwaly Mohamed , Hashish Mohamed 
Published: August 2021

Abstract
Background
Adolescent obesity is an important health issue. Non-surgical weight management programs, even the most aggressive, have shown modest weight reduction results. Laparoscopic sleeve gastrectomy (LSG) is gaining reliability as a low surgical risk bariatric procedure with proper efficiency for this age group. The aim of this study was to present our initial experience with LSG in morbidly obese adolescents and to report short-term clinical and metabolic outcome.

Results
Mean age was 16.43 years, and mean preoperative weight and body mass index (BMI) were 132.68 kg and 48.90 respectively. Mean excess weight loss (EWL) was 54.11 kg 1 year after LSG, corresponding to 74 EWL% as well as mean BMI loss (BML) of 19.89. LSG improved fatty infiltration of the liver in 75% of cases and other comorbidities in 100% of patients.

Conclusions
LSG proved to be a safe procedure with significant short-term clinical and metabolic success for adolescent obesity.
Small intestinal submucosal lipoma: a rare cause of secondary intussusception in a child
Authors: Cheikhrouhou Taycir , Dhaw Mahdi Ben , Zouari Mohamed , Zitouni Hayet , Kallel Rim , Gouiaa Naourez , Boudawara Tahya Sellami , Mhiri Riadh 
Published: August 2021

Abstract
Background
Intestinal lipomas are benign, non-epithelial, intestinal tumors with an exceptionally rare localization at the ileum. Lipomas in the small intestine occur mainly in elderly patients and seldom occur in childhood. They are frequently asymptomatic, possibly due to their slow growth. These tumors may act as a lead point of intussusception.

Case presentation
We report a rare case of double compounded ileo-ileal intussusception due to a submucosal intestinal lipoma in an 8-year-old female. To our knowledge, this is only the seventh pediatric case to be reported in the medical literature.

Conclusions
Small intestinal submucosal lipoma should be considered in case of intussusception in pediatric patients. Surgical resection seems sufficient in case of symptomatic intestinal lipoma with low morbidity.
Epicardial and Pericardial Adiposity Without Myocardial Steatosis in Cushing Syndrome
Authors: Wolf Peter , Marty Benjamin , Bouazizi Khaoula , Kachenoura Nadjia , Piedvache Céline , Blanchard Anne , Salenave Sylvie , Prigent Mikaël , Jublanc Christel , Ajzenberg Christiane , Droumaguet Céline , Young Jacques , Lecoq Anne-Lise , Kuhn Emmanuelle , Agostini Helene , Trabado Severine , Carlier Pierre G , Fève Bruno , Redheuil Alban , Chanson Philippe , Kamenický Peter 
Published: August 2021

Abstract

Context
Cardiovascular disease is the leading cause of death in patients with Cushing syndrome. Cortisol excess and adverse metabolic profile could increase cardiac fat, which can subsequently impair cardiac structure and function.

Objective
We aimed to evaluate cardiac fat mass and distribution in patients with Cushing syndrome.

Methods
In this prospective, cross-sectional study, 23 patients with Cushing syndrome and 27 control individuals of comparable age, sex, and body mass index were investigated by cardiac magnetic resonance imaging and proton spectroscopy. Patients were explored before and after biochemical disease remission. Myocardial fat measured by the Dixon method was the main outcome measure. The intramyocardial triglyceride/water ratio measured by spectroscopy and epicardial and pericardial fat volumes were secondary outcome measures.

Results
No difference was found between patients and controls in intramyocardial lipid content. Epicardial fat mass was increased in patients compared to controls (30.8 g/m2 [20.4-34.8] vs 17.2 g/m2 [13.1-23.5], P &lt; .001). Similarly, pericardial fat mass was increased in patients compared to controls (28.3 g/m2 [17.9-38.0] vs 11.4 g/m2 [7.5-19.4], P = .003). Sex, glycated hemoglobin A1c, and the presence of hypercortisolism were independent determinants of epicardial fat. Pericardial fat was associated with sex, impaired glucose homeostasis and left ventricular wall thickness. Disease remission decreased epicardial fat mass without affecting pericardial fat.

Conclusion
Intramyocardial fat stores are not increased in patients with Cushing syndrome, despite highly prevalent metabolic syndrome, suggesting increased cortisol-mediated lipid consumption. Cushing syndrome is associated with marked accumulation of epicardial and pericardial fat. Epicardial adiposity may exert paracrine proinflammatory effects promoting cardiomyopathy.
Initiating Pancreatic Neuroendocrine Tumor (pNET) Screening in Young MEN1 Patients: Results From the DutchMEN Study Group
Authors: Klein Haneveld Mirthe J , van Treijen Mark J C , Pieterman Carolina R C , Dekkers Olaf M , van de Ven Annenienke , de Herder Wouter W , Zandee Wouter T , Drent Madeleine L , Bisschop Peter H , Havekes Bas , Vriens Menno R , Verrijn Stuart Annemarie A , Valk Gerlof D , van Leeuwaarde Rachel S 
Published: August 2021

AbstractContextNonfunctioning pancreatic neuroendocrine tumors (NF-pNETs) are highly prevalent and constitute an important cause of mortality in patients with multiple endocrine neoplasia type 1 (MEN1). Still, the optimal age to initiate screening for pNETs is under debate.ObjectiveThe aim of this work is to assess the age of occurrence of clinically relevant NF-pNETs in young MEN1 patients.MethodsPancreatic imaging data of MEN1 patients were retrieved from the DutchMEN Study Group database. Interval-censored survival methods were used to describe age-related penetrance, compare survival curves, and develop a parametric model for estimating the risk of having clinically relevant NF-pNET at various ages. The primary objective was to assess age at occurrence of clinically relevant NF-pNET (size ≥ 20 mm or rapid growth); secondary objectives were the age at occurrence of NF-pNET of any size and pNET-associated metastasized disease.ResultsFive of 350 patients developed clinically relevant NF-pNETs before age 18 years, 2 of whom subsequently developed lymph node metastases. No differences in clinically relevant NF-pNET–free survival were found for sex, time frame, and type of MEN1 diagnosis or genotype. The estimated ages (median, 95% CI) at a 1%, 2.5%, and 5% risk of having developed a clinically relevant tumor are 9.5 (6.5-12.7), 13.5 (10.2-16.9), and 17.8 years (14.3-21.4), respectively.ConclusionAnalyses from this population-based cohort indicate that start of surveillance for NF-pNETs with pancreatic imaging at age 13 to 14 years is justified. The psychological and medical burden of screening at a young age should be considered.
Placental miR-3940-3p Is Associated With Maternal Insulin Resistance in Late Pregnancy
Authors: Alvarado-Flores Fernanda , Kaneko-Tarui Tomoko , Beyer William , Katz Jacqueline , Chu Tianjiao , Catalano Patrick , Sadovsky Yoel , Hivert Marie-France , O’Tierney-Ginn Perrie 
Published: August 2021

Abstract

Context
An increase in maternal insulin resistance (IR) during pregnancy is essential for normal fetal growth. The mechanisms underlying this adaptation are poorly understood. Placental factors are believed to instigate and maintain these changes, as IR decreases shortly after delivery. Methylation of placental gene loci that are common targets for miRNAs are associated with maternal IR.

Objective
We hypothesized that placental miRNAs targeting methylated loci are associated with maternal IR during late pregnancy.

Methods
We collected placentas from 132 elective cesarean sections and fasting blood samples at delivery to estimate maternal homeostasis model assessment of insulin resistance (HOMA-IR). Placental miRNA expression was measured via whole genome small-RNA sequencing in a subset of 40 placentas selected by maternal pre-gravid body mass index (BMI) and neonatal adiposity. Five miRNAs correlated with maternal HOMA-IR and previously identified as targeting methylated genes were selected for validation in all 132 placenta samples via RT-qPCR. Multiple regression adjusted for relevant clinical variables.

Results
Median maternal age was 27.5 years, with median pre-pregnancy BMI of 24.7 kg/m2, and median HOMA-IR of 2.9. Among the 5 selected miRNA, maternal HOMA-IR correlated with the placental expression of miRNA-371b-3p (r = 0.25; P = 0.008) and miRNA-3940-3p (r = 0.32; P = 0.0004) across the 132 individuals. After adjustment for confounding variables, placental miRNA-3940-3p expression remained significantly associated with HOMA-IR (β = 0.16; P = 0.03).

Conclusion
Placental miRNA-3940-3p was associated with maternal IR at delivery. This placental miRNA may have an autocrine or paracrine effect—regulating placental genes involved in modulating maternal IR.
Higher CNV Frequencies in Chromosome 14 of Girls With Turner Syndrome Phenotype
Authors: Purwar Naincy , Tiwari Pradeep , Mathur Nitish , Sharma Himanshu , Sahlot Rahul , Garg Umesh , Sharma Balram , Saxena Aditya , Mathur Sandeep K 
Published: August 2021

Abstract

Context
Precise genotype-phenotype correlations in Turner syndrome (TS) have not yet been deciphered. The chromosomal basis of the clinical TS phenotype in the absence of X chromosome aberrations on conventional karyotyping remains more and less unexplored.

Objective
To elucidate the high-resolution chromosomal picture and analyze the genotype-phenotype associations in girls with clinical phenotype of TS by chromosomal microarray.

Design and Patients
Cross sectional observational study conducted between October 2018 and January 2020 on 47 girls presenting the clinical TS phenotype and fulfilling the criteria for chromosomal analysis.

Setting
Outpatient department at Department of Endocrinology and the Molecular Research Lab at tertiary care teaching institution.

Results
The copy number variation (CNV) polymorphs were more frequent on autosomes than X chromosomes, and they were detected in 89.3%, 61.7%, and 92.8% of patients, respectively, on chromosome 14 or X or both. A total 445 and 64 CNV polymorphs were discovered on chromosome X and 14, respectively. The latter exhibited either gain at 14q32.33, loss at 14q11.2, or both. Karyotype was available for 27 patients; 55.6% of cases displayed X chromosome abnormalities while 44.4% cases had a normal karyotype. Functional interactomes of the genes that were present in chromosome 14 CNVs and those known to be associated with TS showed an overlap of 67% and enriched various development-related cellular pathways underlying TS phenotype.

Conclusions
On high-resolution karyotype analysis, clinical phenotype of TS can be associated with CNV defects in autosomes, specifically chromosome 14 or X chromosome or both. The syndrome of chromosome 14 CNV defects with and without X-chromosomal defects clinically mimics TS and shares a common genomic network that deserves further investigations.
Obesity, POMC, and POMC-processing Enzymes: Surprising Results From Animal Models
Authors: Lindberg Iris , Fricker Lloyd D 
Published: August 2021

Abstract
Peptides derived from proopiomelanocortin (POMC) are well-established neuropeptides and peptide hormones that perform multiple functions, including regulation of body weight. In humans and some animals, these peptides include α– and β–melanocyte-stimulating hormone (MSH). In certain rodent species, no β-MSH is produced from POMC because of a change in the cleavage site. Enzymes that convert POMC into MSH include prohormone convertases (PCs), carboxypeptidases (CPs), and peptidyl-α-amidating monooxygenase (PAM). Humans and mice with inactivating mutations in either PC1/3 or carboxypeptidase E (CPE) are obese, which was assumed to result from defective processing of POMC into MSH. However, recent studies have shown that selective loss of either PC1/3 or CPE in POMC-expressing cells does not cause obesity. These findings suggest that defects in POMC processing cannot alone account for the obesity observed in global PC1/3 or CPE mutants. We propose that obesity in animals lacking PC1/3 or CPE activity depends, at least in part, on deficient processing of peptides in non–POMC-expressing cells either in the brain and/or the periphery. Genetic background may also contribute to the manifestation of obesity.