Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis

Simple Summary This study addresses the global healthcare challenge of cancer by investigating hereditary cancer syndromes (HCS) and their genetic underpinnings. Using a multigene hereditary cancer panel, we examined Russian patients with suspected HCS, revealing that 21.6% had pathogenic or likely pathogenic genetic variants. Predominant mutations were found in BRCA1/BRCA2, CHEK2, and ATM genes, and we identified 16 previously undescribed variants in MUTYH, GALNT12, MSH2, MLH1, MLH3, EPCAM, and POLE genes. Our findings underscore the importance of comprehensive genetic testing for personalized cancer prevention and treatment. This research contributes essential genetic insights, particularly in regions like Russia where epidemiological data are limited, establishing the way for improved understanding and management of hereditary cancer syndromes. Abstract Cancer is a major global public health challenge, affecting both quality of life and mortality. Recent advances in genetic research have uncovered hereditary cancer syndromes (HCS) that predispose individuals to malignant neoplasms. While traditional single-gene testing has focused on high-penetrance genes, the past decade has seen a shift toward multigene panels, which facilitate the analysis of multiple genes associated with specific HCS. This approach reveals variants in less-studied gene regions and improves our understanding of cancer predisposition. In a study composed of Russian patients with clinical signs of HCS, we used a multigene hereditary cancer panel and revealed 21.6% individuals with pathogenic or likely pathogenic genetic variants. BRCA1/BRCA2 mutations predominated, followed by the CHEK2 and ATM variants. Of note, 16 previously undescribed variants were identified in the MUTYH, GALNT12, MSH2, MLH1, MLH3, EPCAM, and POLE genes. The implications of the study extend to personalized cancer prevention and treatment strategies, especially in populations lacking extensive epidemiological data, such as Russia. Overall, our research provides valuable genetic insights that give the way for further investigation and advances in the understanding and management of hereditary cancer syndromes.
A Study on the Efficiency of Marketing Communications in Business-to-business Markets

The consumer market has received a lot of attention in marketing communications research, with the business-to-business sector receiving minimal attention up until this point. The creation and evaluation of a model of marketing communication efficacy in the business-to-business market are the main topics of this essay. The model, which incorporates aspects of marketing communication objectives, bidirectional communications, and communications channels, is tested to examine the impact economic research of these antecedent variables on marketing communications effectiveness and organizational performance, building on prior research from the marketing communications and business-to-business marketing literature. The core idea of marketing communication effectiveness is that it has a positive impact on organizational performance. It is predicated on the idea that there are factors that can positively influence how successful marketing communications are. Managerial implications are examined, and ideas for more research are offered.
Numerical investigations on vibratory sheet piling in embankments

The influence of vibratory driving on the surrounding soil is difficult to predict due to complex mechanical processes in the soil. Effects like soil compaction, subsidence or a temporary reduction of the soil's shear strength can occur as a result of the dynamic loading. In case of water saturated soil additional effects like excess pore water pressure or soil liquefaction can occur. When driving piles in the area of embankments these effects can cause great deformations of the embankment and the driven pile. In this paper the lateral drift of a sheet pile wall due to the installation process in the area of an embankment is simulated by use of the finite element method using a coupled 2-phase approach to consider the development of excess pore water pressure and the resulting effects. The deformation mechanism and the mechanical processes in the soil are investigated. Further the calculated deformations of the sheet pile are compared to measurement data. A comparison of the results of a fully drained analysis and a coupled analysis considering the development of excess pore water pressure is done. RÉSUMÉ : L'influence du vibrofonçage sur le sol environnant est difficile à prévoir en raison de phénomènes mécaniques complexes dans le sol. Les effets tels que la compaction du sol, l'affaissement ou la réduction temporaire de la résistance au cisaillement du sol peuvent se produire sous l’effet d’une charge dynamique. Dans le cas d’un sol saturé en eau, des effets supplémentaires tels que des surpressions interstitielles ou la liquéfaction des sols peuvent se produire. Lors de l’installation de pieux à proximité d’une berge, ces effets peuvent causer de grandes déformations de la berge et du pieu. Dans cette étude, le déplacement latéral d'une paroi de palplanches dû au processus d’installation à proximité d’une berge est déterminé en utilisant la méthode des éléments finis. Une approche biphasique est utilisée pour estimer le développement de la surpression interstitielle de l’eau et des effets qui en résultent. Le mécanisme de déformation et les phénomènes mécaniques dans le sol sont étudiés. Les déformations calculées pour la palplanche sont comparées aux résultats de mesure. Pour finir, la comparaison des résultats d'une analyse parfaitement drainée et d’une analyse biphasique est effectuée.
Micron-scale δ13C determination by NanoSIMS in a Juina diamond with a carbonate inclusion

al. (1999), Kaminsky et al. (2001), Palot et al. (2012) and Zedgenizov et al. (2014) showed that alluvial diamonds having lower mantle inclusions with metaperidotitic affinity have slightly variable d13C-values around –5‰, typical of mantle carbon (Javoy et al., 1986) (Fig. 2). These C isotopic values are consistent with the 15N-depleted character of the studied diamonds (Palot et al., 2012). On the other hand, diamonds from the nearby kimberlite pipes (Juina-5; Collier-4), display a more dispersed range of d13C values from –4.8‰ to –28.3‰ (Bulanova et al., 2010; Walter et al., 2011; Thomson et al., 2014), more characteristic of an eclogitic paragenesis (Cartigny, 2005). It was suggested that these diamonds originate from organic sedimentary carbon subducted at great depths (Bulanova et al., 2010; Walter et al., 2011; Thomson et al., 2014). At depths exceeding 250 km, oxygen fugacity is seen as too low for diamond or carbonate to be stable (e.g., Stagno et al., 2013). Carbon would instead occur either as carbide or dissolved in the free metal phase (1 wt%; Frost et al., 2004). To account for the occurrence of diamond from both the transition-zone and the lower mantle, diamond formation would occur through redox reactions between an oxidized fluid (e.g., a melt derived from Micron-scale d13C determination by NanoSIMS in a Juina diamond with a carbonate inclusion
Iodine: a scoping review for Nordic Nutrition Recommendations 2023

Iodine is essential for the synthesis of the thyroid hormones thyroxine (T4) and triiodothyronine (T3). As in many other parts of the world, insufficient iodine intake and consequently insufficient iodine status is a public health challenge in the Nordic and Baltic countries. The main dietary sources of iodine in the Nordic and Baltic countries include cow’s milk, saltwater fish, eggs, products containing iodised salt, and iodised table salt. Only Denmark (DK), Finland (FI) and Sweden (SE) have implemented mandatory (DK) or voluntary (SE, FI) salt iodisation. New data, as well as recent studies from the Nordic and Baltic countries, strengthen the evidence that the main health challenges related to insufficient iodine intake remain thyroid function and thyroid disease, mental development, and cognitive function. Excessive intakes can also cause hyperthyroidism, autoimmune thyroid disease, and thyroid cancer.
DIOXINS, FURANS AND POLYCHLORINATED BIPHENYLS ANIMAL AND HUMAN HEALTH RISK

Dioxins, furans and polychlorinated biphenyls (PCBs) are three of the twelve United Nations Environment Programme (UNEP) internationally recognized Persistent Organic Pollutants (POPs). POPs are organic compounds of mainly anthropogenic origin which are characterized by their lipophilicity, semi-volatility and resistance to degradation. These characteristics pre-dispose these substances to long environmental persistence and to longrange transport. They are also known for their ability to bioconcentrate and biomagnify under typical environmental conditions, thereby potentially achieving toxicologically relevant concentrations. Because of their toxic characteristics they pose a threat to humans and to the environment. It is important to highlight that dioxins, furans and PCBs have similar chemical properties and hazardous characteristics but the sources of releases are different. Therefore an effective approach to controlling and reducing their release into the environment should address all of them, but taking into account the differences (3, 9). The aim of this document is to provide a concise overview of the health hazards and sources of dietary exposure to dioxins, furans and PCBs. It also gives information on their chemical and physical characteristics, Toxic Equivalent Concentration (TEQ) and legislative limits.
The Interplay Between Students’ Learning-Related Beliefs, Reading Comprehension Strategies and Academic Success

The present study explored the combined effects of students’ learning-related beliefs as well as use of reading comprehension strategies on academic success—academic outcomes and exhaustion. In total, 1165 eighth grade students’ beliefs, use of reading comprehension strategies and reading comprehension were assessed at the beginning of the school year. Half a year later 296 students from the sample reported their academic exhaustion and grades from the previous semester. Students’ learning-related beliefs and use of deep reading comprehension strategies were associated with their academic outcomes and exhaustion. More specifically, believing in quick and effortless learning was associated with the use of a smaller variety of deep reading comprehension strategies and lower academic outcomes. Additionally, students’ motivational beliefs about effective learning were mainly indirectly through strategy use linked to their academic outcomes, while having direct effects on academic exhaustion. These results refer to the importance of addressing learning-related beliefs in addition to strategy instruction.
Studying the Roles of the Renin–Angiotensin System in Accelerating the Disease of High-Fat-Diet-Induced Diabetic Nephropathy in a db/db and ACE2 Double-Gene-Knockout Mouse Model

Diabetic nephropathy (DN) is a crucial metabolic health problem. The renin–angiotensin system (RAS) is well known to play an important role in DN. Abnormal RAS activity can cause the over-accumulation of angiotensin II (Ang II). Angiotensin-converting enzyme inhibitor (ACEI) administration has been proposed as a therapy, but previous studies have also indicated that chymase, the enzyme that hydrolyzes angiotensin I to Ang II in an ACE-independent pathway, may play an important role in the progression of DN. Therefore, this study established a model of severe DN progression in a db/db and ACE2 KO mouse model (db and ACE2 double-gene-knockout mice) to explore the roles of RAS factors in DNA and changes in their activity after short-term (only 4 weeks) feeding of a high-fat diet (HFD) to 8-week-old mice. The results indicate that FD-fed db/db and ACE2 KO mice fed an HFD represent a good model for investigating the role of RAS in DN. An HFD promotes the activation of MAPK, including p-JNK and p-p38, as well as the RAS signaling pathway, leading to renal damage in mice. Blocking Ang II/AT1R could alleviate the progression of DN after administration of ACEI or chymase inhibitor (CI). Both ACE and chymase are highly involved in Ang II generation in HFD-induced DN; therefore, ACEI and CI are potential treatments for DN.
Risk identification and prediction of complaints and misconduct against health practitioners: a scoping review

Abstract Identifying the risk and predicting complaints and misconduct against health practitioners are essential for healthcare regulators to implement early interventions and develop long-term prevention strategies to improve professional practice and enhance patient safety. This scoping review aims to map out existing literature on the risk identification and prediction of complaints and misconduct against health practitioners. This scoping review followed Arksey and O’Malley’s five-stage methodological framework. A comprehensive literature search was conducted on MEDLINE, EMBASE, and CINAHL databases and finished on the same day (6 September 2021). Articles meeting the eligibility criteria were charted and descriptively analysed through a narrative analysis method. The initial search generated 5473 articles. After the identification, screening, and inclusion process, 81 eligible studies were included for data charting. Three key themes were reported: methods used for identifying risk factors and predictors of the complaints and misconduct, synthesis of identified risk factors and predictors in eligible studies, and predictive tools developed for complaints and misconduct against health practitioners. The findings reveal that risk identification and prediction of complaints and misconduct are complex issues influenced by multiple factors, exhibiting non-linear patterns and being context specific. Further efforts are needed to understand the characteristics and interactions of risk factors, develop systematic risk prediction tools, and facilitate the application in the regulatory environment.
The Effects of In Utero Programs on Birth Outcomes: The Case of Buen Comienzo

ABSTRACT: This paper studies the effects of an in utero program on birth outcomes for vulnerable pregnant women. We use information from the Buen Comienzo program, an initiative run by the local government of Medellín, the second-largest city of Colombia. To identify the effects, we obtain matching estimates using data from program participants and national birth statistics. We find that the program increased the birth weight of participant children by 0.09 and 0.23 standard deviations for boys and girls, respectively, and reduced the prevalence of low birth weight by 2.6 and 4.6 percentage points for boys and girls, respectively. In terms of size, the program reduces the incidence of being short by 3 and 4 percentage points, for boys and girls, respectively. The program also significantly reduced preterm births between 3 and 8 percentage points. We also provide evidence of the existence of heterogeneous effects depending on a mother’s exposure to the program and her frequency of attendance. Finally, an estimate of the cost-benefit ratio of the program suggests that the benefits could be two to six times the costs, respectively, for boys and girls born to participant mothers with early exposure to the program.
Jones Fracture in the National Football League

Background: Jones fracture, or proximal fifth metatarsal fracture, is a common injury in National Football League (NFL)-caliber athletes. Combine draft performance can greatly impact the long-term success of these athletes, and substantial emphasis has been placed on early return to play (RTP) and the minimization of post-operative complications after Jones fracture in these athletes. To date, no study has specifically described the treatment and outcomes of this injury specifically in NFL-caliber players, considering factors relevant to this unique population. Thus, the purpose of this review is to delve into Jones fracture in NFL-caliber athletes, evaluating the diagnostic, treatment, and RTP considerations. Methods: We searched Medline (PubMed), Embase (Elsevier), Scopus (Elsevier), and SPORTDiscus (EBSCOhost) for the concept of Jones fractures in the NFL. Using the PRISMA guidelines, a team of three reviewers conducted abstract screenings, full-text screenings, and the extraction of studies describing Jones fractures specifically in the NFL. Results: Of the 1911 studies identified, 6 primary retrospective studies met the inclusion and exclusion criteria. The heterogeneity of the outcome reporting precluded a meta-analysis; thus, a qualitative review of manuscripts describing Jones fracture was carried out. Classification, diagnosis, and treatment considerations, RTP statistics and outcomes, and complications were discussed. Amongst the primary studies, there were 285 Jones fractures, all athletes were able to RTP, and the average time to RTP ranged from 6 weeks to 27 weeks. For complications, with operative treatment, the refracture rate ranged from 4 to 12%, and incomplete healing ranged from 7 to 50%. RTP was 15 weeks for refractures. There were no patient-reported outcomes. Conclusions: The vast majority of Zone 2/3 Jones fractures are treated with IM screw fixation with or without adjunctive orthobiologics, such as bone marrow aspirate concentrate, in NFL-caliber athletes. The six major series investigating outcomes after the operative treatment of Jones fractures in NFL players reveal very positive findings overall with regard to RTP, reoperation, and career continuation.
Design of Filtering Crossover Based on 180° Filtering Couplers

This article presents a novel crossover with an embedded bandpass filter function. The crossover is derived from the traditional crossover based on a tandem connection of two 3-dB 90° couplers by substituting them with 180° filtering couplers and introducing a filter function. In addition, a 180° phase shift realized by coupled resonators is added to keep the two cross paths in phase. The equivalent circuit of the crossover between the two diagonal ports has been treated as bandpass filters with coupled resonators. The design equations are derived to assist with the synthesis process for the filtering crossover. For verification, a filtering crossover with fifth-order filter characteristics, operating at 2.4 GHz, is designed, fabricated, and tested. The measured results match very well with the simulation, which verifies the proposed circuit concept.
The Impact of the COVID-19 epidemic on Fintech

Fintech is a mainstream trend in digital transformation and it is an important strategic goal adopted by countries to help the real economy. The sudden COVID-19 epidemic has a significant impact on the global economy and pushes the development of Fintech to a new stage. This paper tries to explore the impact of the COVID-19 epidemic on Fintech innovation and regulation by collecting relevant literature from China Knowledge Network and Web of Science, and applying bibliometric methods such as literature quantity statistics and keyword mutation. The study found that: 1) after the outbreak of the COVID-19 epidemic, the number of literatures related to financial technology has increased significantly, and Fintech has become a research hotspot for scholars; 2) from the perspective of the research body, scholars have shifted their interpretations of the connotation of Fintech from conceptual analysis to practical exploration; 3) from the perspective of research content, the COVID-19 epidemic has promoted the technological innovation and application of Fintech, and the results of this field of research have been more fruitful. However, the economic downturn crisis brought by the COVID-19 epidemic has forced regulators to adopt loose regulatory policies, which led to a decline in scholars' attention to financial technology regulation for the regulation of financial technology and a slight lack of research enthusiasm. In the future, sustained efforts should be made to pay attention to the research on Fintech regulation, strengthen the connection between macro and micro perspectives of the discipline, and develop a personalized development path for Fintech.
Complex-Forming Properties of the Anti-Inflammatory Sialorphin Derivative Palmitic Acid-Lysine-Lysine-Glutamine-Histidine-Asparagine-Proline-Arginine with Cu(II) Ions in an Aqueous Solution

The present work describes the complexation of the anti-inflammatory sialorphin derivative Pal-Lys-Lys-Gln-His-Asn-Pro-Arg (palmitic acid-lysine-lysine-glutamine-histidine-asparagine-proline-arginine) with Cu(II) ions in an aqueous solution, at a temperature of 25.0 ± 0.1 °C, over the whole pH range. The complexing properties were characterized by potentiometric and UV-Vis spectrophotometric methods. The potentiometric method was used to calculate the logarithms of the overall stability constants (log β) and the values of the stepwise dissociation constants (pKa) of the studied complexes. The percentage of each species formed in an aqueous solution was estimated from the species distribution curve as a function of pH. The absorbance (A) and molar absorption coefficient (ε) values for the Cu(II)-sialorphin derivative system were determined with UV-Vis spectroscopy. Our studies indicate that the sialorphin derivative forms stable complexes with Cu(II) ions, which may lead to future biological and therapeutic applications.
Global hunting grounds: power, scale and ecology in the negotiation of conservation

Increasingly, large international conservation organizations have come to rely upon market-oriented interventions, such as sport trophy hunting, to achieve multiple goals of biodiversity protection and ‘development’. Such initiatives apply an understanding of ‘nature’-defined through an emerging discourse of global ecology-to incorporate local ecologies within the material organizational sphere of capital and transnational institutions, generating new forms of governmentality at scales inaccessible to traditional means of discipline such as legislation and enforcement. In this paper, I historicize debates over ‘nature’ in a region of northern Pakistan, and demonstrate how local ecologies are becoming subject to transnational institutional agents through strategies similar to those used by colonial administrators to gain ecological control over their ‘dominions’. This contemporary reworking of a colonialist ethic of conservation relies rhetorically on a discourse of global ecology, and on ideological representations of a resident population as incapable environmental managers, to assert and implement an allegedly scientifically and ethically superior force better able to respond to assumed degradation. In undertaking such disciplinary projects, international conservation organizations rely on, and produce, a representation of ecological space as ‘global’ to facilitate the attainment of translocal political-ecological goals.