Case Study Research Articles

Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.

Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs). In this review, a comprehensive overview is provided of reports on dementia and cognitive/adaptive trajectories in adults with RGNDs. A systematic literature review was conducted in Embase, Medline ALL, and PsycINFO on December 6, 2022. The protocol was registered in PROSPERO (CRD42021223041). Search terms for dementia, cognitive and adaptive functioning, and RGNDs were combined using generic terms and the Orphanet database. Study characteristics and descriptive data on genetic diagnosis, clinical and neuropathologic features, comorbidities, and diagnostic methods were extracted using a modified version of the Cochrane Data Extraction Template. The literature search yielded 40 publications (17 cohorts, 23 case studies) describing dementia and/or cognitive or adaptive trajectories in adults with 14 different RGNDs. Dementia was reported in 49 individuals (5 cohorts, 20 cases) with a mean age at onset of 44.4 years. Diagnostics were not disclosed for half of the reported individuals (n = 25/49, 51.0%). A total of 44 different psychodiagnostic instruments were used. MRI was the most reported additional investigation (n = 12/49, 24.5%). Comorbid disorders most frequently associated with cognitive/adaptive decline were epilepsy, psychotic disorders, and movement disorders. Currently available literature shows limited information on aging in RGNDs, with relatively many reports of young-onset dementia. Longitudinal data may provide insights into converging neurodevelopmental degenerative pathways. We provide recommendations to optimize dementia screening, diagnosis, and research.

Using the RedList of Ecosystems andthe Nature-based Solutions Global Standard as an integrated process for climate change adaptation inthe Andean high mountains.

Under anthropogenic pressures and climate change, most ecosystems are showing signs of reduced resilience. Unfortunately, some are more at risk of collapse and, without interventions, they may lose biodiversity, ecological integrity and ecosystem services. Here, we describe two tools that were developed under the auspices of the International Union for Conservation of Nature,the RedList of Ecosystems and the Nature-based Solutions Global Standard, and their capacity to first identify the ecosystems at risk of collapse in a nation and then develop solutions based on nature to improve their resilience. Nature-based solutions include, for example ecosystem-based adaptation, where solutions are developed to meet the needs of the local people while protecting nature to ensure greater resilience of the social-ecological system, not only the natural ecosystem. We discuss through a case study in the Andean high mountains and páramo social-ecological system how these approaches have been used in Colombia. We then discuss lessons learned and challenges that may reduce the capacity of a community to initiate such interventions, such as national policies and funding restrictions. We also discuss through another early case in Ecuador the importance to adapt these types of interventions to the geographical and cultural context of the social-ecological systems. This article is part of the theme issue 'Bringing nature into decision-making'.

A case study of South Korean elementary school teachers’ emergency remote teaching

COVID-19 is an unprecedented pandemic that has impacted the whole world. The pandemic made researchers and educators realize the critical need to prepare for future disasters. This study explored a context-specific case for elementary online learning where we investigated how elementary school teachers transitioned to emergency remote teaching (ERT) from face-to-face to online learning during the pandemic. A case study approach was used to explore South Korean elementary teachers’ ERT approaches and experiences during COVID-19. Using the CIPP (Context, Input, Process, and Product) framework, we sought to understand how the transition occurred from the perspectives of the teachers. The analysis uncovered several themes that fall under each category of the framework. In terms of context, limited technological aptitude and lack of training in online instructional design as well as policy issues and socio-economic differences were identified as key factors in assessing the current state of the ERT. In terms of input, instructors’ efforts as well as support from in and out of school were discussed. Student interaction and engagement were identified as key factors in understanding the process of ERT. Lastly, learning outcomes, instructional strategies, and systemic transformation emerged as products of ERT.

Natural capital approaches for the optimal design of policies for nature recovery.

By embedding a spatially explicit ecosystem services modelling tool within a policy simulator we examine the insights that natural capital analysis can bring to the design of policies for nature recovery. Our study is illustrated through a case example of policies incentivising the establishment of new natural habitat in England. We find that a policy mirroring the current practice of offering payments per hectare of habitat creation fails to break even, delivering less value in improved flows of ecosystem services than public money spent and only 26% of that which is theoretically achievable. Using optimization methods, we discover that progressively more efficient outcomes are delivered by policies that optimally price activities (34%), quantities of environmental change (55%) and ecosystem service value flows (81%). Further, we show that additionally attaining targets for unmonetized ecosystem services (in our case, biodiversity) demands trade-offs in delivery of monetized services. For some policy instruments it is not even possible to achieve the targets. Finally, we establish that extending policy instruments to offer payments for unmonetized services delivers target-achieving and value-maximizing policy designs. Our findings reveal that policy design is of first-order importance in determining the efficiency and efficacy of programmes pursuing nature recovery. This article is part of the theme issue 'Bringing nature into decision-making'.

Managing adult-onset Still's disease in pregnancy: A case report

BACKGROUND Adult-onset Still’s disease (AOSD) is a rare systemic inflammatory disorder characterized by fever, arthritis, skin rash, and systemic symptoms. The etiology of AOSD is unknown; however, it is thought to be related to immune dysregulation. Although a rare disease, AOSD can significantly impact reproductive health, particularly during pregnancy. This case study assesses the implications of pregnancy in a patient with AOSD, as well as the potential for heredity of the disease. Neonatal hemophagocytic lympho-histiocytosis (HLH) is a rare and life-threatening disorder characterized by hyperinflammation and uncontrolled activation of immune cells, leading to multiple organ dysfunction. This case report aimed to introduce neonatal HLH from a mother with AOSD. CASE SUMMARY This case study presents a 29-year-old female with AOSD who became pregnant and gave birth to a premature infant who was diagnosed with neonatal HLH. AOSD can significantly impact pregnancy and childbirth, as it may become more severe during pregnancy, with an increased risk of fetal loss and preterm birth. The management of AOSD during pregnancy involves the use of nonsteroidal anti-inflammatory drugs and glucocorticoids, as well as immunosuppressive agents in severe cases. However, the use of immunosuppressive agents during pregnancy may be associated with potential risks to the fetus. The hereditary implications of AOSD are unclear; however, available evidence suggests that genetic factors may play a role in the disease development. CONCLUSION AOSD can have significant implications for pregnancy and childbirth, including an increased risk of fetal loss and preterm birth. Neonatal HLH, a complication of AOSD in pregnancy, requires prompt diagnosis and management. Women with AOSD who are considering pregnancy should discuss their options with their healthcare provider and develop a management plan that addresses the potential risks to both mother and fetus.

Eruptive xanthomas in a patient with severe hypertriglyceridemia: A case report

BACKGROUND Xanthomatosis, a metabolic disorder causing yellow growths (xanthomas), poses challenges in lipid metabolism. This case study introduces the first documented instance within China's Yi population, emphasizing the need to explore dietary habits and treatment strategies tailored to this specific community. CASE SUMMARY Xanthomatosis is a metabolic disorder where lipid metabolism goes awry, resulting in the development of yellowish growths called xanthomas. A male patient, 47 years of age, from China's Yi population, who is obese, visited our dermatology clinic complaining of widespread, non-painful rashes that have been present for two weeks. The patient works as a chef and has a diet that frequently includes oily and greasy foods. This case represents the initial documentation of xanthomatosis within the Yi population in China, offering a theoretical foundation for understanding dietary patterns and treatment options specific to the Yi community. CONCLUSION The first report of xanthomatosis in the Yi population in China lays a theoretical foundation for understanding Yi dietary patterns and treatment.

‘Shameful histories’ – shame and sex perceived by secondary school students in history education

A challenge for history education in Sweden involves integrating questions regarding relationships and sex education. The purpose of this article is to explore how students and teachers relate historical narratives about women’s sexuality between the past and present, with a particular focus on students’ discussion of shame. To analyse shame as something beyond the individual, we focus on the interrelationship of gender, sexuality and shame. The study builds on a poststructural understanding of gender, norms, sexuality and subjectification. The data comprise video-recorded classroom observations, focus group interviews with 16–19-year-old students, and interviews with their teachers. The findings are structured into two themes: shame as regulating women’s sexuality, and sexualised shame as a historical continuity. We conclude that it is highly challenging for a history teacher to construe a classroom environment that breaks with traditional historiography without resorting to a fragmentation of history into isolated case studies of the spectacular.

ENHANCING TRANSPORTATION THROUGH ROUTE STRATEGY PROPOSAL USING LOCALIZATION MEASUREMENT TECHNOLOGY: A CASE STUDY

This case study investigates the revitalization of the Korytnica spa settlement in the Low Tatras, known for its rich natural and cultural heritage, including mineral springs. Despite its historical and therapeutic advantages, Korytnica currently experiencing challenges in renovation and development as a thriving spa and tourist resort. The article explores the strategic use of geolocation measurement technology and the potential of mineral springs to enhance the tourist infrastructure and promote the site. The article presents a multidisciplinary approaches, including sustainable development, and the integration of heritage into tourism products. It concludes with a proposal for optimizing transport routes and improving infrastructure in the area, thereby supporting accessibility and minimizing environmental impact. The main output of the article is a proposal for improving the route to the relevant area, improving accessibility by analyzing and improving infrastructure and transport processes.

Pre-simulation Preparation Preferences of Senior Nursing Students: Virtual Simulation Games Versus Traditional Case Studies

BackgroundPresimulation preparation is critical to prepare learners to participate fully in clinical simulations; however, many do not complete assigned presimulation activities. Research QuestionWhich presimulation preparation activities will senior nursing students choose and perceive as helpful? MethodsA quasi-experimental study evaluated senior nursing student (n = 115) pre-simulation preparation preferences. Students had access to eight activities including a case study and a virtual simulation game (VSG). Participants indicated which activities they completed, and rated the case study and VSG in terms of usability, engagement, and impact on learning. ResultsOverall, 57% of participants completed the paper-based case study and 37% played the VSG. Participation in any preparation resulted in significant improvements in competence (t = 2.3; p = .02). Learners rated VSG higher than case study in terms of usability (t = 2.6; p = .01), engagement (t = 2.8; p = .01) and impact on learning (t = 2.4; p = .02). ConclusionResults revealed nursing students have different preferences for pre-simulation preparation. Although more students completed the case study than the VSG, those who played the game rated it higher. This supports providing a choice in presimulation preparation activities.

Computer simulation in data analysis: A case study from particle physics

The paper presents a case study of the data analysis in the CDHS scattering experiment of particle physics performed in 1983. The case study compares the function of computer simulation in the data analysis with recent philosophical work on the role of simulations in high energy physics (HEP) and the theory-ladenness of the data. In the data analysis of CDHS, computer simulations entered an iterative process of probabilistic data correction. The computer simulation was a crucial ingredient of the data analysis that served to increase the accuracy of the measurement. The way in which simulation was used corresponds in a certain sense to the function of “models as mediators” (Morgan and Morrison), by mediating knowledge about measurement errors and the way of correcting them. I argue that this use of simulation did not give rise to a vicious circle of adjusting data to theory and vice versa but only to a weak, or benign, theory-ladenness of the data compatible with scientific realism. In the publication of the CDHS results, the measurement outcomes are called “observed data”, indicating a realist attitude of the physicists towards the measured quantities which does not exactly fit in with entity realism or theory realism.

Customer Service Through AI-Powered Human-Robot Relationships: Where are we now? The case of Henn na Cafe, Japan

Throughout history, interactions between humans and robots, and robots themselves have experienced profound shifts, generating a plethora of literature within the domains of manufacturing and services. Despite the abundance of scientific publications, consensus regarding these relationships remains elusive, fostering ambiguity within and between these domains. This article aims to present an encompassing and widely accepted perspective on the existing body of literature, seeking to unravel the nature of these relational paradigms. Our objective revolves around analyzing that zeroes in on the enhancement of Artificial Intelligence (AI) within Human-Robot relationships, particularly in the context of services. Henceforth, our research pivots toward a specialized body of literature exploring the domain of technical-biosocial systems, which encompasses human-technology-social structures. By doing so, we aim to analyze AI within a more delimited context, thereby mitigating the critique that a gap persists in scholarly discourse owing to the predominant analysis of AI within a global purview. Mindful of the potential drawbacks associated with a purely holistic and aggregated conceptual theoretical model, we have opted to subject our model to empirical validation. To achieve this, a case study was employed, with a specific focus on the avant-garde Henn na Cafe in Japan. The findings underline that currently, Henn na Cafe employs Human-Robot Interaction and Collaboration (HRI-C). However, there is an expectation that service companies will embrace an evolving HRI-C by integrating AI to enhance service delivery activities. Alternatively, they may opt for a Robot-Robot Interaction and Collaboration (RRI-C) approach with improved social capabilities or multi-human/multi-robot systems. The empirical findings are consistent with existing literature, which indicates a contemporary scholarly interest in investigating complex and emotional systems within service-oriented environments. These environments, characterized by elevated levels of AI, present challenges for AI systems in executing service functions effectively. Recent research endeavors aim to synthesize and assess the prevailing understanding and research directions within this domain. This convergence of findings not only reinforces theoretical research but also provides supplementary perspectives on human-robot relations and the complexities involved in service delivery within technologically sophisticated settings. Subsequent research endeavors could pivot towards a heightened focus on the services sector, exploring potential relationships and how AI might either fortify the services domain or pivot towards a vantage point centered on multi-robot systems.

Analysis of tera gymnastic as an intervention of acute pain nursing problems in elderly families with hypertension

Background: One of the problems that occurs in the elderly is hypertension. Hypertension has many symptoms, including dizziness, fatigue, and difficulty sleeping, and one of them is acute pain in the nape of the neck. In treating pain, there are two methods of treatment: pharmacological techniques and non-pharmacological treatments. One of the non-pharmacological treatments is tera exercise. Terra exercise is an alternative way to reduce pain. Objective: To analyze the implementation of acute pain nursing care for elderly families who experience hypertension problems in Trayeman Pleret Hamlet, Bantul. Method: This research method uses descriptive methods. The approach used is a case study with the management of one case using a nursing care process approach involving elderly families who experience acute pain nursing problems with hypertension. Results: After performing tera exercises three times for ± 60 minutes, participants said the pain had decreased from a pain scale of 5 to 2. Conclusion: The application of tera exercise can reduce the problem of acute pain nursing in elderly families with hypertension.

Assessment of Electric Vehicle Charging On Distribution Transformer Aging, Aswan City as a Case Study

Assessment of Electric Vehicle Charging On Distribution Transformer Aging, Aswan City as a Case Study

Deep learning-based prediction of float model performance in floatplanes: A case study on lift-to-drag coefficient ratio

Developing an engineering design is resource-intensive and time-consuming, particularly for the floats of a floatplane design, due to its complexity and limited testing facilities. Intelligent-based computational design (IBCD) techniques, which integrate computational design techniques and machine learning (ML) algorithms, offer a solution to reduce required testing by providing predictions. This paper proposes a deep learning (DL)-based IBCD method for modeling floats' lift-to-drag coefficient ratio (C<sub>L</sub>/C<sub>D</sub>), where DL is one of the most powerful ML. The proposed method consists of two phases: hyper-parameter optimization and DL model training and evaluation. A genetic algorithm (GA) is employed in the first phase to explore complex hyper-parameter combinations efficiently. Evaluation of the predicted C<sub>L</sub>/C<sub>D</sub> of the floats using the DL model resulted in a satisfactory R-squared of 0.9329 and the lowest mean squared error (MSE) of 0,001536. These results demonstrate the ability of DL model to predict the float's performance accurately and can facilitate further design optimization. Thus, the proposed method can offer a time-efficient and cost-effective solution for predicting float performance, aiding in optimizing floatplane designs and enhancing their functionalities.

Heterogeneity in Marginal Willingness to Pay for Urban Space Quality: A Case Study in Beijing

Heterogeneity in Marginal Willingness to Pay for Urban Space Quality: A Case Study in Beijing

Filipino migrant worker organisations, social capital and disaster resilience: An Aotearoa-New Zealand case study

There is increasing evidence that access to social capital, and particularly linking capital can significantly enhance the resilience of minoritized and vulnerable communities impacted by disasters. Understanding levels and types of access to social capital within such communities before disasters occur is an important part of disaster risk management policy and planning. Migrant worker communities, however, remain an understudied group in general, and there are very few published findings concerned with the 3.5 million Filipino migrant workers who primarily live in high-income host countries. This article contributes to addressing this gap with an Aotearoa-New Zealand qualitative case study that aims to increase understanding of the social capital accessed pre-disaster by members of Filipino migrant worker organisations in the Canterbury region. Interview and focus group data indicated that worker organisations facilitated access to local Filipino migrant worker networks, contributing to consistently high reliance on bonding capital, but less access to bridging or linking capital. This trend is linked to the precarious immigration status afforded by temporary work visas, which increased the vulnerability of participants. Only one organisation provided access to the linking capital required to mitigate this vulnerability. Factors influencing the capacity of organisations to develop linking capital appeared to include establishment objectives, length of time since establishment and support from government and industry groups. These findings emphasize the valuable role that migrant worker organisations can play in mitigating disaster risks, through providing connections that facilitate support and resourcing from authorities and industry bodies.

Land Evaluation and Assessment of Land Cover Change Using Geospatial Techniques: A Case Study in West Samlout Area, Egypt.

Land Evaluation and Assessment of Land Cover Change Using Geospatial Techniques: A Case Study in West Samlout Area, Egypt.

Chemical characteristics and health risk evaluation of natural waters in the Du River Source National Nature Reserve: A case study in Zhushan County, Hubei Province, China

To study the distribution of trace elements in natural water of the Du River Source National Nature Reserve and to assess the water quality and health risks, Zhushan County in Hubei Province was selected as the study area. Element content in 361 natural water samples collected from Zhushan County were measured by ICP-MS, ICP-OES, and HG-AFS. The main anions and cations present in water samples from Zhushan County are Ca2+ and HCO3−. The water chemistry is predominantly influenced by the weathering of carbonate rocks. The water samples with high content of selenium (Se) (0∼82.9 μg/L, mean 4.6 μg/L) in natural water in Zhushan County are mainly distributed in the northern part of Zhushan. The strontium (Sr) content of 49.6% of the water samples (0.001–2.177 mg/L, mean 0.234 mg/L) reached the criteria of natural mineral water for drinking in China (Sr ≥ 0.2 mg/L), which is distributed throughout the county. The high content of metasilicic acid (H2SiO3) (0.026–35.910 mg/L, mean 12.598 mg/L) and zinc (Zn) (0∼407.218 μg/L, mean 12.406 μg/L) are concentrated in northern Zhushan County. 99.7% water samples were freshwater and 98.9% meet the criteria of “good” water quality. All of the natural water samples have low health risk and low heavy metal pollution. 6.1% water samples meet the criteria of Se-type mineral water, while 45.4% meet the criteria of Sr-type mineral water, and 4.4% water samples meet the criteria of “low sodium, high Se, and high Sr” mineral water. Zhushan County has the potential for Se-type mineral water and Sr-type mineral water development. The findings of this study hold immense significance for the public health implications of drinking water in Du River Source, thereby offering valuable insights for effective water resources management.

Use of vegetable oils as dielectric fluids for electrical discharge machining. A case study

Electrical discharge machining with solid electrodes represents an efficient solution to generate blind cavities with complex geometry. Vegetable oils represent an alternative to conventional dielectrics, which are considered harmful for the environment and human health. This study tested the feasibility of two widely used vegetable oils, sunflower and soybean, under intense machining of three alloys with application in aeronautic industry, aiming for high process productivity and a good surface quality. The results have revealed that vegetable oils are capable to ensure an improvement of the material removal rates that can reach up to 55.15% compared to mineral oil. Also, the vegetable dielectrics allowed an improvement of surface quality for non-ferrous alloys, up to a maximum of 19.70%, whereas for the stainless steel, the mineral oil has provided a better surface finish.

A computational sustainable approach for energy storage systems performance evaluation based on spherical-fuzzy MCDM with considering uncertainty

Incorporating energy storage systems (ESSs) can mitigate the intermittency of renewable energy sources. There are a variety of ESSs for renewable energy with vastly different characteristics. The problem of diversity of characteristics in selecting the most appropriate ESS can be approached as a multi-criteria decision-making (MCDM) problem. This research evaluates sustainable ESSs through a case study in Egypt. A sustainable computational approach is presented through which experts can use verbal expressions to express their opinions in determining the priorities of the dimensions that affect the selection of ESSs. Determining the appropriate energy storage system requires consideration of several main dimensions such as the technology dimension, environmental dimension, economic dimension, and social-political dimension and, in addition to the sub-indicators. Hence, this research applies a hybrid MCDM approach that deals with different indicators and characteristics. Also, uncertainty in applying the proposed approach was dealt with by a spherical fuzzy (SF) environment and by using the spherical fuzzy numbers (SFNs). At first, the SF analytical hierarchy process (SF-AHP) method was used to assess the priorities of the four main dimensions and their sub-indicators. Then, the SF mixed aggregation by comprehensive normalization technique (SF-MACONT) was applied to evaluate and rank the ESSs selected for analysis through research. An illustrative case study was presented that included seven ESSs out of the eighteen systems listed in the research to confirm the feasibility of the developed approach. Sensitivity analysis was carried out by changing some parameters like λ, μ, δ, and ϑ based on the SF-MACONT method and changing the weights of some main dimensions. A comparative analysis with some MCDM approaches was conducted to show the advantages of the developed approach through its flexibility and built-in parameters. The findings show that the technology dimension is the most influential in choosing a sustainable ESS, while the economic dimension is the least influential. Also, the results of the evaluation and ranking of the seven selected ESSs indicate that the "Pumped Hydro" system is the most suitable system for energy storage in Egypt.