Case Analysis Research Articles

Role of TRAK1 variants in epilepsy: genotype-phenotype analysis in a pediatric case of epilepsy with developmental disorder.

The TRAK1 gene is mapped to chromosome 3p22.1 and encodes trafficking protein kinesin binding 1. The aim of this study was to investigate the genotype-phenotype of TRAK1-associated epilepsy. Trio-based whole-exome sequencing was performed on a cohort of 98 patients with epilepsy of unknown etiologies. Protein modeling and the VarCards database were used to predict the damaging effects of the variants. Detailed neurological phenotypes of all patients with epilepsy having TRAK1 variants were analyzed to assess the genotype-phenotype correlations. A novel TRAK1 compound heterozygous variant comprising variant c.835C > T, p.Arg279Cys and variant c.2560A > C, p.Lys854Gln was identified in one pediatric patient. Protein modeling and VarCards database analyses revealed that the variants were damaging. The patient received a diagnosis of early infantile epileptic spasms with a developmental disorder; he became seizure-free through valproate and adrenocorticotropic hormone treatment. Further results for six variants in 12 patients with epilepsy indicated that biallelic TRAK1 variants (including homozygous or compound heterozygous variants) were associated with epilepsy with developmental disorders. Among these patients, eight (67%) had epileptic spasms and seven (58%) were intractable to anti-seizure medicines. Moreover, eight patients experienced refractory status epilepticus, of which seven (88%) died in early life. To our knowledge, this is the first reported case of epilepsy caused by TRAK1 compound heterozygous variants. Biallelic TRAK1 variants can cause epilepsy and developmental disorders. In these patients, seizures progress to status epilepticus, suggesting a high risk for poor outcomes and the requirement of early treatment.

Discussion on "Five zang-organs all can lead to low back pain, not only the kidney".

Low back pain (LBP) is the common disease in the department of acupuncture and moxibustion in hospital and is treated basically in terms of kidney deficiency. Through clinical observation and in association with classic literature, the authors proposes that the five zang-organs all can lead to LBP relevant to internal injury. Based on the analysis of typical cases, the authors expounds the nature of pain caused by each zang-organ and clarified the keys of the differentiation. LBP related to the liver is manifested mainly as lumbar soreness and distending pain, accompanied by the limited forward and backward extension of the lumbar vertebra. When the dysfunction of the heart and lung are involved, the hollow pain is dominant, combined with the weakness and emptiness feeling in the lumbar region. When LBP is caused by the dysfunction of the spleen, muscular pain is the chief complaint, combined with heaviness and soreness in the local, and the stiffness on palpation. When rooted at the kidney, LBP is manifested chiefly by dull pain, with deep location of illness, mostly around the lumbar sacral region.

Gait analysis of a patient after femoral nerve and malignant soft tissue tumor resections: a case report

BackgroundMalignant femoral soft tissue tumors are occasionally resected together with the femoral nerves, but this can cause loss of knee extensor muscle activity. To the best of our knowledge, no previous reports have detailed the gait analysis of such cases in combination with electromyography. Herein, we report the gait analysis of a patient who underwent left groin synovial sarcoma and left femoral nerve resection 12 years ago.Case presentationWe analyzed the gait of a 38-year-old man who was able to walk unaided after the resection of a synovial sarcoma in the left groin together with the ipsilateral femoral nerve. The muscle activities of the affected medial (MH) and lateral hamstrings (LH), and lateral heads of the gastrocnemius (GL) were increased during 50–75% of the stance phase. The hip flexion angle of the affected limb was smaller, and the ankle plantar flexion angle of the affected limb was larger than that of the non-affected limb. This means that in the affected limb, the hip and ankle angles were adjusted to prevent knee collapse, and the MH, LH, and GL muscles contributed in the mid- and late-stance phases. Moreover, we found that the hamstring and gastrocnemius of the affected limb worked together to keep the ipsilateral knee extended in the mid-stance phase and slightly flexed in the late-stance phase.ConclusionsPatients capable of walking after femoral nerve resection may control their hamstrings and gastrocnemius muscles collaboratively to prevent ipsilateral knee collapse in the mid- and late-stance phases.

Education and training of acupuncture-moxibustion professionals from the perspective of medicine-engineering interdiscipline: case analysis of China's higher education reform and transformation under the background of "emerging medical education".

A sustainable training system for acupuncture-moxibustion and tuina professionals, integrating "medicine, industry, education and research" is established, under the main framework of the medicine-engineering interdiscipline, and with the consideration of the issues of medicine, the application of engineering technology, the thinking approaches of sciences, and the collaboration of business studies. It is the potential power to support the development of traditional medicine. Through analyzing the difficulties of the medicine-engineering interdiscipline of acupuncture specialty, and in association with the experiences of the early-stage development of the collaboration between medicine and engineering, the paper presents the cases of China's higher education reform and transformation under the background of "emerging medical education" so as to explore a replicable personnel training mode.

Covid-19 vaccination: a mixed methods analysis of health system resilience in Latin America

BackgroundThis paper discusses the stages of health system resilience (HSR) and the factors underlying differences in HSR during the covid-19 pandemic, especially the vaccination challenge. We studied the relationship between vaccination strategies and macro-context backgrounds in 21 Latin American countries. Our objective was to capture the impact of those aspects in the SR and identify potential improvements for future crises and for vaccination programs in general.MethodsThe study uses mixed-methods research to provide insights into how the countries’ backgrounds and vaccination strategies impact the HSR. Particularly, we used explanatory sequential mixed methods, which entails a quantitative-qualitative two-phase sequence. The quantitative phase was conducted using cluster and variance analysis, in which the HSR was measured using as a proxy the covid-19 vaccination outcomes in three cut-offs of reaching 25%, 50%, and 75% of population coverage. This approach allows us to discriminate covid-19 vaccination progress by stages and contrast it to the qualitative stage, in which we performed a country-case analysis of the background conditions and the changes in vaccination strategies that occurred during the corresponding dates.ResultsThe paper provides a rich comparative case analysis of countries, classifying them by early, prompt, and delayed performers. The results show that differences in vaccination performance are due to flexibility in adapting strategies, cooperation, and the ability to design multilevel solutions that consider the needs of various actors in the health ecosystem. These differences vary depending on the vaccination stage, which suggests the importance of acknowledging learning, diffusion, and feedback processes at the regional level.ConclusionsWe identified the importance of societal well-being as an ideal country antecedent for high and sustained levels of performance in covid-19 vaccination. Whereas in other countries where the set-up and beginning phases were rough, the value of the operational decisions and the learning on the move regarding their own and their peers’ trajectories were crucial and were reflected in performance improvement. A contribution of this study is that the above-mentioned analysis was done using vaccination coverage cut-off points that allow a performance view that takes into consideration the stages of the vaccination progress and the learning process that goes with it. As well as framing this into the HSR shock cycles that allow to differentiate the stages of resilience on which countries must act.

Interrelated transformative process dynamics in the face of resource nexus challenges: an invitation towards cross case analysis

ABSTRACT The need for more attention to the social and human dimensions in global change sciences and natural resources management requires in-depth understandings of transformative approaches and processes. More inclusive and systemic approaches are needed that embrace complexity and support transformative learning, shifts in power relations, collective and relational agency and structural transformations for adaptive and innovative governance. Scientific understanding of how such change can be brought about is still limited. In this paper, which sets the scene for this Special Issue, we develop a conceptual framework for analyzing transformative processes across a range of diverse cases. Aspects of the conceptual framework are applied, tested and elaborated in three following papers in the Special Issue, deepening understanding of how transformative change in complex social-ecological systems may originate at nexus boundary zones such as that portrayed by the water-food-energy nexus. Specifically, the paper conceptually elaborates four iteratively related dynamics of transformative learning, transforming power relations, transformative agency and transforming structures which intersect in transformation processes. The perspectives offer tools for cross case analysis in the longer term, but also tools for supporting co-engaged, generative research processes.

Strengthening Islamic Education Values through Kaili Da'a Local Ethnic Cultural Symbol

This research aims to examine the meaning of Kaili ethnic cultural symbols to strengthen the values of Islamic education among the Kaili ethnic community. This research was conducted using a qualitative approach. The data collection technique in this research uses observation, interviews and documentation methods. Data analysis in this research uses single data analysis (individual case analysis), with the data analysis model from Miles and Huberman, through three paths of activities that occur simultaneously. This research found that there are sambulugana symbols and sintuvu symbols in organizing their daily life systems. These symbols are interpreted deeply because they have fundamental values. The sambulugana symbol teaches the concept of gratitude and resignation to God Almighty. Meanwhile, the sintuvu concept teaches the values of ukhuwah or cooperation between people. The sintuvu symbol reminds the Kaili ethnic community of how they live in interdependence with one another. The sintuvu symbol also teaches us not to create distance between relatives. So, as much as possible, maintain kinship relations even in buying and selling (exchanging goods).

Failure analysis of the rotating shaft in the rail grinding car

Rail grinders belonging to special vehicles have fewer accidents than general railroad vehicles and parts, and the causes are diverse. Therefore, there is a lack of basic data for inspection methods and preventative measures necessary for accident prevention, and the collection and analysis of accident cases are also necessary. In this paper, a failure analysis of the recently derailed rail grinding car's rotating shaft was conducted. Various analyses, including fractography, chemical analysis, metallography and hardness measurement, were performed on the failed shaft. In the fracture surface of the shaft, ratchet marks and fatigue striations indicative of fatigue failure were observed. Consequently, it was confirmed that the failure of the shaft was attributed to fatigue, with the primary cause being identified as the cracks found on the fillet area surface. Chemical analysis of the observed inclusions in the sample revealed manganese (Mn) at 6.16 wt% and sulfur (S) at 1.35 wt%. These are attributed to non-metallic MnS inclusions, which are presumed to have adversely affected the fatigue strength of the material. Additionally, hardness deficiency due to heat treatment defects on the shaft surface was identified. The surface hardness measured approximately HV400, suggesting that it is desirable to achieve a surface hardness of HV600 or HRC55 or higher during high-frequency heat treatment. Lastly, the finish state of the fillet area surface was not smooth. Given that the fillet area is a region where stress concentration occurs, the presence of such machining traces raises the possibility of progressing into fatigue cracks. Finite element analysis revealed that the von-Mises stress was less than the yield strength of the material, and a safety factor based on the yield strength was calculated to be 3.5. The results confirmed that fatigue cracks in the fillet area were caused by the hardness deficiency due to the poor heat treatment, the rough surface finish, and the presence of non-metallic inclusions.

Analysis methods and case analysis of effect modification (2): effect modification in network Meta-analysis

This paper briefly introduces the characteristics, research significance, and global reporting status of effect modification in network Meta-analysis, demonstrates the heterogeneity caused by effect modification in network Meta-analysis, and emphasizes the importance of exploring effect modification in network Meta-analysis. This paper also summarizes the normalized description and analysis strategies of effect modification in network Meta-analysis. Finally, by the case of "comparison of efficacy of three new hypoglycemic drugs in reducing body weight in type 2 diabetes patients", this paper demonstrates the realization of subgroup analysis and network Meta-regression in exploring effect modification, summarizes the advantages and disadvantages of the two methods, to provide references for future researchers.

Before amplification: the role of experts in the dynamics of the social attenuation and amplification of risk

In this article, we use system/network theory together with the social amplification of risk framework (SARF) to show how expert actors over time and across multiple events can contribute to social risk amplification and attenuation. The framework and the theory, in particular the concepts of risk emplacement and displacement, are employed in the analysis of an illustrative case related to the use of the feed additive, narasin, and provide explanations of how risks are part of continuously ongoing and dynamic social processes. By emphasizing the role of experts in such developments, connecting what happens in expert communities with the processing of risks and effects on the outside, the analysis shows the larger context within which social risk attenuation and amplification happen. Showing the value of integrating different theories and perspectives, this article lays the foundations for further studies of risk amplification and attenuation dynamics. Based on the results of the analysis, we indicate opportunities to update and further develop the SARF. We also present some implications for public policy and risk management practices including addressing the positive contributions of risk amplification and how this relates to adaptive risk management approaches.

Navigating Industrial Relations and Occupational Health and Safety Challenges in the Vuca Era: A Case Study Exploration and Analysis

This paper explores the intersection of Industrial Relations (IR) and Occupational Health and Safety (OHS) in the Volatile, Uncertain, Complex, and Ambiguous (VUCA) era. Industrial relations, vital for fostering harmonious workplaces, are challenged by the rapid changes in the VUCA world. Likewise, OHS faces new dynamics in ensuring workplace safety amid uncertainties. The VUCA era’s impact on IR is analyzed, highlighting volatility’s effects on labor markets, uncertainty in planning, complexity in diverse workplaces, and ambiguity in role clarity. Case studies in the healthcare and banking industries exemplify adaptive strategies. Key areas of focus include the evolution of health and safety policies, the role of flexible work arrangements, the dynamics of employment development in Industry 5.0, the impact of job creation laws in Indonesia, and the significance of workforce diversity. Findings emphasize the importance of evidence-based policies, agile practices, and a human-centric approach in navigating the challenges of the VUCA era in the realm of IR and OHS. Suggestions for future research explore diverse industry impacts and effective strategies for managing workforce diversity.

Progression from the mean: Cultivating instructors' unique trajectories of practice using educational technology

AbstractBackgroundIn taking up educational technology tools and student‐centered instructional practice, there is consensus that instructors consider the unique aspects of their instructional context. However, tool adoption success is often framed narrowly by numerical uptake rates or by conformity with non‐negotiable components.PurposeWe pursue an alternative ecosystems framing which posits that variability among contexts is fundamental to understanding instructors' uptake of instructional tools and the ways their teaching trajectories develop over time.Design/MethodThrough a multiple‐case study approach using interviews, usage data, surveys, and records of community meetings, we examine 12 instructors' trajectories to illustrate the dynamic uptake of a technology tool.ResultsCross‐case analysis found that instructors' trajectories are tool‐mediated and community‐mediated. We present five cases in detail. Two foreground ways that instructors gained insight into student learning from student responses in the tool. Two illustrate the role played by the project's Community of Practice (CoP), an extra‐institutional support for deepening practice. The final case illustrates the complexity of an evolving instructional ecosystem and its role in instructors' satisfaction and continued use.ConclusionsUse of the educational technology tool perturbed ecosystems and supported instructors' evolving trajectories through mediation of instructor and student activity. Instructors' goals guided initial uptake, but both goals and practice were adapted using information from interactions with the tool and the CoP and changes in instructional contexts. The study confirms the need to understand the complexity of the uptake of innovations and illustrates opportunities for educators, developers, and administrators to enhance uptake and support diversity goals.

Detection of Alpha-1 Antitrypsin Levels in Chronic Obstructive Pulmonary Disease in Respiratory Clinics in Spain: Results of the EPOCONSUL 2021 Audit.

Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed condition despite being one of the most common inherited disorders in adults that is associated with an increased risk of developing chronic obstructive pulmonary disease (COPD). The aim was to evaluate the frequency of performing AAT levels and associated factors in COPD patients in an audit conducted in 2021-2022, as well as to compare with a previous audit conducted in 2014-2015. EPOCONSUL 2021 is a cross-sectional audit that evaluated the outpatient care provided to COPD patients in respiratory clinics in Spain based on available data from medical registries. 4225 patients with a diagnosis of COPD from 45 centers were audited in 2021. A total of 1670 (39.5%) patients underwent AAT determination. Being treated at a specialized COPD outpatient clinic (OR 1.88, p = 0.007), age ≤ 55 years old (OR 1.84, p = 0.007) and a FEV1 < 50% (OR 1.86, p < 0.001) were associated with a higher likelihood of being tested for AAT, while Charlson index ≥ 3 (OR 0.63, p < 0.001) and genotyping of AATD availability (OR 0.42, p < 0.001) showed a statistically significant negative association. The analysis of cases included in respiratory units that participated in both audits showed an increase in the proportion of cases with AAT serum level testing available (adjusted OR 2.81, p < 0.001). The percentage of individuals with serum AAT levels < 60 mg/dL (a severe AATD) was 4%. Our analysis identifies significant improvements in adherence to the recommendation to test AAT levels in COPD patients, performed in 4 out of 10 patients, being more likely at younger ages and with higher COPD severity, and with a detection of severe AATD of 4% among those tested, suggesting that clinicians still perform AAT testing in COPD patients selectively. Therefore, efforts are still needed to optimize AATD screening and establish new early detection strategies to reduce morbidity and mortality in these patients.

Coaching Teachers in Document-Based History Instruction: Practices That Support Teacher Facilitation of Student Discourse

Instructional coaching is increasingly regarded as an essential feature of professional development, but no research exists on content-specific instructional coaching for history teachers. The study examines data from a coaching program in which history teacher leaders served as novice coaches for their colleagues. We found that coached teachers, as a whole, improved in discussion facilitation. Case analysis of two successful and two less successful coach–teacher pairings revealed that successful coaches were more likely to focus on eliciting students’ argumentative discourse whereas less successful coach planning sessions focused on discrete historical content knowledge and the disciplinary heuristics of historical thinking. It appears that coaching that emphasized a conceptual redirection toward inquiry and a pedagogical toolkit for fostering student discourse was more closely tied to growth in discussion facilitation and opportunities for student historical reasoning than a coaching approach more narrowly focused on historical concepts.

Efficacy of 24 hours versus 5 days of prophylactic antibiotics for the prevention of surgical site infection in outpatient elective facial plastic surgery

BackgroundThe discovery of penicillin marked a paradigm shift in medicine with the ability to treat previously life-threatening infections. Increasing antibiotic resistance as well as the risk of adverse reactions to antibiotics, however, creates pressures for judicious use. There continues to be debate about the role of prophylactic antibiotics in facial plastic surgery. This study explores the role of prophylactic antibiotic administration in elective outpatient facial plastic surgery by comparing 5 days versus 24 hours of antibiotic prophylaxis. MethodA retrospective cohort study of all consecutive patients undergoing cosmetic procedures at an outpatient facial plastic surgical center who received either 5 days or 24 hours of prophylactic antibiotics was performed. The primary outcome was the need for postoperative antibiotics within 6 weeks of surgery. Results204 patients met the inclusion criteria: 104 in the 5-day group and 100 in the 24-hour prophylaxis group. The overall infection rate was 3.4%: 3% in the 24-hour group and 3.8% in the 5-day group (p = 0.77). Subgroup analysis of clean-contaminated cases (n = 85) showed the rate of postoperative infections was 4.3%, all within the 5-day group. In clean cases (n = 119), the rate of postoperative infections was 4.2% (n = 5): 4.8% (n = 3) in the 24-hour group versus 3.5% (n = 2) in the 5-day group. ConclusionsThe results show that decreasing the duration of antibiotics was not associated with an increased risk of postoperative infection. Given that antibiotics are an increasingly precious commodity with rising rates of resistance, this study supports the use of decreasing postoperative antibiotics to 24 hours.

Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues

Much has been published about the ethical issues encountered by clinicians in genetics/genomics, but those experienced by clinical laboratory scientists are less well described. Clinical laboratory scientists now frequently face...

Research on cross-city emergency management collaboration mechanism in major emergencies: insights from a knowledge management perspective

Purpose Based on the perspective of knowledge management, this study aims to discuss how to build cross-city emergency management collaboration mechanism in major emergencies and explore the important role of knowledge management in emergency management collaboration. Design/methodology/approach Based on the theoretical analysis of knowledge management and the typical case study of cross-city emergency management collaborative rescue, this study provides an in-depth analysis of how these cities achieve high emergency management performance through multidimensional and multilevel knowledge collaboration, thus revealing the mechanism of knowledge transfer, integration and sharing in achieving high emergency management performance. Findings Through analyzing typical cases, this study finds that building a smooth mechanism for multichannel emergency rescue information can promote the diversification of knowledge transfer methods, building a platform-based integration mechanism for emergency rescue information can enhance knowledge integration capabilities and building a linkage mechanism for emergency rescue materials between cities can promote knowledge-sharing level, thereby improving emergency management performance level. Research limitations/implications This study has great significance for how to build cross-city emergency management collaboration mechanism in the digital era. In the future, the authors need to further discuss the following two aspects in depth: research on the impact of cross-city emergency management collaboration mechanism on improving the knowledge management capabilities of government emergency management departments; and research on the impact mechanism of knowledge management capabilities on city resilience. Originality/value Through case analysis of cross-city emergency management collaborative rescue for major emergencies in China in recent years, this study proposes three specific strategies for cross-city emergency management (smooth, integration and linkage mechanisms) and reveals that these three strategies are essentially aimed at improving the government’s knowledge management level.

Analysis of Site Construction Management of Huangshi Section of Wuyang Expressway

In recent years, all aspects of our society have been in rapid development. The construction of the highway has also been greatly promoted, especially in the field of transportation, and has made a lot of achievements. With the continuous advancement of social development, the quality requirements for highway projects are also increasing. Therefore, the construction unit should deeply understand the problems existing in the current construction management and take effective measures to strengthen the construction management to ensure the safe and reliable operation of highways. This paper takes highway project construction management as an example, adopts the literature research method and case analysis method, and carries on a series of analyses of the Wuyang Highway Huangshi Section project and current Chinese highway project construction management by searching the literature about standardized highway construction. First of all, the background and significance of the research topic, as well as the status quo at home and abroad, are introduced, and the main research content and purpose of this study are proposed. Secondly, the content and concrete measures of standardization of expressway construction are expounded, respectively. Thirdly, on this basis, combined with the example of the Wuyang Expressway Huangshi Section project construction management, the highway project construction management is analyzed and studied. In the process of research, some problems existing in the construction management process at this stage are put forward. Finally, the paper puts forward the improvement measures and further optimization plans for the problems. In this paper, the freeway project construction management is studied, and the theory is explored for the development and improvement of our country's freeway project construction management system.

Navigating the Maze: Facilitators and Barriers to Substance Use Treatment for Pregnant and Parenting Women in Mississippi

There are significant hurdles to placing pregnant and parenting women (PPW) with a substance use disorder into treatment programs. This study uses qualitative analysis of case notes collected by a linkage to care expert (patient navigator) from over 50 Mississippi PPW client cases. The analysis identified facilitators and barriers in the referral to treatment process. We group the observed patterns into three general categories: (1) individual factors such as motivation to change and management of emotions; (2) interpersonal relationships such as romantic partner support or obstruction; and (3) institutional contexts that include child welfare, judicial, and mental health systems. These factors intersect with one another in complex ways. This study adds to prior research on gender-based health disparities that are often magnified for pregnant and parenting women.

ChatGPT - A new milestone in the field of education

With the rapid development of artificial intelligence, natural language processing models like ChatGPT hold creative potential for applications in education. This study focuses on ChatGPT and explores its applications in the field of education. This research employs literature review and case analysis methods to systematically investigate the applications of ChatGPT in instructional assistance, personalized education, and writing support. By analyzing three cases involving ChatGPT's professional competence in medical exams, the construction of personalized learning systems, and writing support, the paper emphasizes ChatGPT's advantages in education, future development directions, as well as ethical and privacy concerns. The study finds that ChatGPT possesses strong semantic understanding and analytical capabilities. Within the context of general applicability, it can provide accurate answers to questions posed by users with certain specialized backgrounds. The paper not only addresses ChatGPT's role as a student's auxiliary tool but also explores collaborative models between ChatGPT and teachers. However, it's important to note that ChatGPT currently has limitations in terms of limited knowledge and inadequate emotional understanding. Additionally, in terms of ethics and privacy, considerations regarding information protection and moral aspects within the educational application of ChatGPT are crucial. In the future, it's worth further exploring specialized models for ChatGPT's tasks in both teacher and student roles, along with enhancing ChatGPT's emotional support capabilities.