bluuebunny/crossref_metadata_2025 huggingface dataset:
DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability
Authors: Seaberg Amanda , Awotoye Waheed , Qian Fang , Machado-Paula Ligiane A. , Dunlay Lindsey , Butali Azeez , Murray Jeff , Moreno-Uribe Lina , Petrin Aline L.
Published: August 2024

Objective

Van der Woude Syndrome (VWS) presents with combinations of lip pits (LP) and cleft lip and/or cleft palate (CL/P, CPO). VWS phenotypic heterogeneity even amongst relatives, suggests that epigenetic factors may act as modifiers. IRF6, causal for 70% of VWS cases, and TP63 interact in a regulatory loop coordinating epithelial proliferation and differentiation in palatogenesis. We hypothesize that differential DNA methylation within IRF6 and TP63 regulatory regions underlie VWS phenotypic discordance.

Methods

DNA methylation of CpG sites in IRF6 and TP63 promoters and in an IRF6 enhancer element was compared amongst blood or saliva DNA samples of 78 unrelated cases. Analyses were done separately for blood and saliva, within each sex and in combination, and to address cleft type (CL/P ± LP vs. CPO ± LP) and phenotypic severity (any cleft + LP vs. any cleft only).

Results

For cleft type, blood samples showed higher IRF6 and TP63 promoter methylation on males with CPO ± LP compared to CL/P ± LP and on individuals with CPO ± LP compared to those with CL/P ± LP, respectively. Saliva samples showed higher IRF6 enhancer methylation on individuals with CPO ± LP compared to CL/P ± LP and contrary to above, lower TP63 promoter methylation on CPO ± LP compared to CL/P ± LP. For phenotypic severity, blood samples showed no differences; however, saliva samples showed higher IRF6 promoter methylation in individuals with any cleft + LP compared to those without lip pits.

Conclusion

We observed differential methylation in IRF6 and TP63 regulatory regions associated with cleft type and phenotypic severity, indicating that epigenetic changes in IRF6 and TP63 can contribute to phenotypic heterogeneity in VWS.
Assessing the impact of aprepitant on response to dose-intensive cyclophosphamide, etoposide, and cisplatin (DICEP)
Authors: Thai Kevin , Jupp Jennifer , Dersch-Mills Deonne , Ghosh Sunita , Shafey Mona , Fong Leanne
Published: August 2024

Background

Despite evidence demonstrating the effectiveness of aprepitant for chemotherapy-induced nausea and vomiting (CINV), its use in stem cell transplant settings across Canada is not standard. While pharmacokinetic data exists, the clinical significance of cytochrome P450 3A4 (CYP 3A4) inhibition of cyclophosphamide by aprepitant is unclear. Reduced activation of cyclophosphamide may reduce the effectiveness of dose-intensive cyclophosphamide, etoposide, and cisplatin (DICEP).

Objectives

To compare response rates to DICEP in patients with Hodgkin lymphoma (HL) and diffuse large B-cell lymphoma (DLBCL) in the presence and absence of aprepitant.

Methods

A retrospective review of patients who received full-dose DICEP for relapsed/refractory HL or DLBCL between June 1995 and September 2018 at the Foothills Medical Centre (FMC) in Calgary, Alberta, Canada was conducted. Descriptive statistics were used to assess response rate, as defined by the 2007 International Working Group response criteria.

Results

Of the 218 patients included in this study, 87.6% of patients in the control group and 88.5% of patients in the aprepitant group responded to DICEP (difference 0.025 [95% CI, −0.066 to 0.114], p = 0.827). Univariate analyses for age, sex, type of cancer, stage of cancer, number of prior relapses, and relapse status were not significant. No significant differences were observed for secondary outcomes.

Conclusion

Response rates to DICEP in relapsed/refractory HL and DLBCL patients were similar regardless of aprepitant use. Considering these results and the effectiveness of aprepitant in CINV, its addition to standard antiemetic therapy in patients receiving DICEP should be given strong consideration in the transplant setting.
The effects of heat treatment on the mechanical properties of 450 HB wear resistant steel
Authors: Murari FD , Gusmão AMR , Turani LO
Published: August 2024

The effects of heat treatment on the mechanical properties of 450 HB wear resistant steel produced by Usiminas steelworks in the form of heavy plates were investigated. The results showed that when tempering temperature is lower than 200°C, there are no significant changes in hardness, tensile properties and absorbed energy in Charpy V-notch test. With further increase in temperature up to 400°C, hardness, tensile strength, total elongation and impact toughness exhibited a slight downward trend. For heating carried out from 400°C to 600°C, a very significant drop in hardness and tensile strength and an increase in total elongation and absorbed energy values were observed. The abrasive wear resistance, evaluated by dry-sand rubber wheel test, increased with the heating up to 500°C. With the additional rise in temperature to 600°C, the abrasive wear resistance decreased, reaching a similar level to the reference state (steel in as-delivered condition).
Transformative brand experiences and consumer-based brand equity in heritage tourism: The role of authenticity and motives
Authors: Steriopoulos Effie , Hall John , Lockstone-Binney Leonie , Steel Marion , Wong Ho Yin
Published: August 2024

This study explores the heritage brand experience of the consumer and the journey from brand knowledge to loyalty in the context of a transformative brand experience (TBE). A phenomenological approach was adopted to explore meanings of the transformative experience in respect of visitor motives, authenticity, emotional engagement, and brand equity. Interview data obtained from 46 consumers of a heritage brand are supported by photographs, images and participants’ journal writings that offer valuable insights into TBE. The findings revealed that key elements of TBE influence consumers’ relationship with the heritage brand, and that the TBE influences the pathway towards loyalty. This study proposes a TBE model that explains the consumer pathway from brand knowledge towards brand loyalty when consumers engage with heritage brands during transformative experiences. By exploring consumer-based brand equity in tourism heritage experiences, the model contributes to theory related to the domains of heritage branding and tourist experience.
Theme park visitors’ responses to monetary promotions: The moderating roles of promotion frequency and original price
Authors: Liang Zengxian , Su Siqing , Sun Yujie , Luo Hui
Published: August 2024

Previous research has shed light on how monetary promotions affect visitors’ purchase intentions, leading many theme parks to adopt these strategies. Yet, with different promotion frequencies and original prices, the effectiveness of these promotions may diverge. Utilizing three experimental studies, this research demonstrates that perceived value fully mediates the significant impact of monetary promotions on purchase intentions. Original price moderates this effect, whereas the moderating role of promotion frequency was not significant. Specifically, for high-priced theme parks offering minimal discounts, “amount off” was preferred over “percentage off,” irrespective of promotion frequency. When original prices are low, the effectiveness of two promotional messages becomes indistinguishable. Both theoretical and managerial implications are further elaborated.
Critical Focus: Study of an Arts Centre
Authors: Harris Laura
Published: August 2024

Critical Focus: Study of an Arts Centre is a 15-minute, two-channel film documenting the everyday life of an art gallery during the exhibition installation period. It was made as part of a sociological investigation of skilled but invisible labour in the art gallery, such as that of gallery technicians. In addition to this focus on skilled labour, the film focuses on the atmospheres of the different spaces in and around the gallery, and the ways they are produced by different social actors. The accompanying essay introduces the context in which the film was made, as well as the theories that informed it. These include theories of atmosphere and skill, as well as the styles and practices of artists who make documentary-like work themselves. The essay also details choices that are both ethical and stylistic, such as the close angles, the focus on material and architectural textures, and a focus on hands rather than faces.
Platform lethargy: Relational work perspective on influencer precarity
Authors: Lukan Tinca , Čehovin Zajc Jožica
Published: August 2024

This article examines how influencers establish agency amidst precarious working conditions both on and off platforms. Findings from over 50 in-depth interviews show that influencers in Slovenia do not gain agency through platform-centred practices as described in existing literature. Influencers use platform features with minimal effort across the entire cycle of cultural production, which includes content creation, distribution, and monetisation—a phenomenon referred to as ‘platform lethargy’. Instead, influencers gain agency through diverse income streams and the support of Instagram husbands and family members. Precarity is not alleviated by using intimacy as a tool in practices of relational labour with audiences, but by relational work that connects actual intimate relationships with economic transactions. This study sheds light on the integration of social media platforms into a pre-existing hustling culture and is relevant for the de-westernisation of research on platformised creative work.
But where's the body? Bodies, time, money, and the political economy of post-pandemic field research
Authors: Baines Donna , Braedley Susan , Daly Tamara , Ågotnes Gudmund , Banerjee Albert , Chaccour Elias , Côté-Boucher Karine , Glasdam Stinne , Hillier Sean , MacDonald Martha , Jacobsen Frode Fadnes , Stilwell Christie
Published: August 2024

Since the pandemic, field work has been transformed by shifts in the political economy affecting the material conditions underpinning research. In this research note, a research team considers their challenges and learning in completing field studies conducted in 2022, including intensified strains on time, money, researchers’ bodies, and risks associated with illness and infection spread. We argue that a neoliberal “research super-hero” norm operates within the research community, rooted in a conception of high productivity that mingles uneasily, for many researchers, with feminist, anti-racist, and anti-colonial social justice aims and responsibilities. Our 2022 fieldwork experience led us to notice how this norm has circulated within our explicitly feminist research team and nudged us to challenge it, while raising questions about how a “research-worker” norm can best be supported.
Bilateral Congenital Pelvic Arteriovenous Malformation: A Case Report and Review of Literature
Authors: Viglione Margherita , Discalzi Andrea , Mistretta Francesco , Mancini Andrea , Nardelli Floriana , Bergui Mauro
Published: August 2024

Purpose:

Through a paradigmatic case and a systematic literature review, we present various endovascular strategies for treating pelvic paravesical arteriovenous vascular malformations (AVMs), with a focus on the efficacy of accessing the shunt point through direct puncture of the venous collector.

Case Report:

A 42-year-old male with nonspecific pelvic pain underwent a computed tomography (CT) scan, which revealed bilateral pelvic AVMs characterized by a network of arteriolar afferents originating from the internal iliac arteries and the inferior mesenteric artery, draining into 2 interconnected giant venous sacs in the bilateral paravesical space. The malformation was classified as type II according to the Cho classification. Following an unsuccessful attempt at transarterial embolization, we devised a plan for bilateral transvenous embolization in 2 separate sessions. Venous access was achieved through percutaneous transperineal ultrasound-guided puncture of the dominant outflow venous sac. A microcatheter was then placed directly into the shunt point, where sclerosant and embolic agents were specifically delivered. Follow-up imaging showed complete obliteration of both pelvic AVMs.

Conclusions:

Effective hemostasis of pelvic paravesical AVMs can be achieved by targeting the shunt point from the aneurysmal dominant outflow vein, potentially through direct percutaneous puncture.

Clinical Impact

This study aims to demonstrate the effectiveness of a transvenous approach in cases of embolization of pelvic paravesical arteriovenous vascular malformations (AVMs). The key to successful treatment lies in occluding the shunt point within the aneurysmal dominant outflow vein’s wall, which can be reached transvenously and potentially through direct percutaneous puncture. Although arterial occlusion can be performed additionally, it should not be performed alone due to its higher risk of AVM persistence/recurrence.
“And Yet…”: Title IX Fifty Years on An Introduction
Authors: Leeds Michael A. , Leeds Eva Marikova
Published: August 2024

The half-century since Title IX was enacted has seen an explosion of opportunities for women and girls. While Title IX has opened doors in a wide array of areas, it will always be associated primarily with women's sports. The effect on women's sports has indeed been profound. Participation and funding has ballooned at all levels, from grade school to the professional ranks. Still, much remains to be done, as participation, attitudes, and support of girls’ and women's sports continue to lag behind those of boys and men. The articles in this volume examine the growth of a variety of women's sports in the wake of Title IX. Collectively, they show how much has been achieved and how much remains to be done.
Regulation and Therapeutic Application of Long non-Coding RNA in Tumor Angiogenesis
Authors: Zhang Shuo , Xia Yunxiu , Chen Weiwei , Dong Hongliang , Cui Bingjie , Liu Cuilan , Liu Zhiqiang , Wang Fei , Du Jing
Published: August 2024

Tumor growth and metastasis rely on angiogenesis. In recent years, long non-coding RNAs have been shown to play an important role in regulating tumor angiogenesis. Here, we review the multidimensional modes and relevant molecular mechanisms of long non-coding RNAs in regulating tumor angiogenesis. In addition, we summarize new strategies for tumor anti-angiogenesis therapies by targeting long non-coding RNAs. The aim of this study is to provide new diagnostic targets and treatment strategies for anti-angiogenic tumor therapy.
Immune Checkpoint Inhibitor Plus Chemotherapy as First-Line Treatment for Advanced Gastric or Gastroesophageal Junction Cancer: A Systematic Review and Meta-Analysis
Authors: Zhang Lianghui , Huang Lingli , Liu Zhixian , Ling Tao
Published: August 2024

Background: Immune checkpoint inhibitor (ICI) plus chemotherapy is effective in advanced gastric or gastroesophageal junction (G/GEJ) cancer. This study aims to evaluate the clinical effect of first-line immunotherapy in combination with chemotherapy for advanced G/GEJ cancer. Methods: PubMed, Web of Science, Embase and Cochrane databases were systematically searched from the inception of the databases to December 2021. Randomized trials comparing ICI plus chemotherapy with chemotherapy in first-line treatment for advanced G/GEJ cancer were included. The outcomes were overall survival (OS), progression-free survival (PFS), objective response rate (ORR), and adverse events (AEs). Analyses were performed in Stata 14.0 software. The study protocol was registered with PROSPERO, number CRD42022300907. Results: Five trials were included for analysis, involving 2, 814 patients. ICI plus chemotherapy can significantly improve OS (hazards ratio [HR], 0.86; 95% CI 0.78-0.94; P = .002), PFS (HR, 0.79; 95% CI 0.63-0.99; P ＜ .001) and ORR (relative ratio [RR], 1.20; 95% CI 1.11-1.30; P < .001). In safety analyses, there were no significant differences in incidence of all AEs, treatment-related adverse event (TRAE), TRAE of grade 3 or higher, serious TRAE and TRAE leading to death between two arms ( P > .05). Conclusions: ICI plus chemotherapy is more effective first-line treatment for advanced G/GEJ cancer in contrast to chemotherapy regrading to improving OS, PFS and ORR, without increasing TRAE risk. This study will redefine the role of ICI in combination with chemotherapy in the first-line setting for G/GEJ cancer, and provide reference for clinical treatment.
The Impact of Low-Power Therapeutic Lasers at 904 nm on the Healing Process of Wounds and the Relationships Between Extracellular Matrix Components and Myofibroblasts
Authors: Timimi Zahra Al
Published: August 2024

The goal of the study was to further our understanding of the functions that myofibroblasts do, how they interact with the matrix's extracellular elements, and how laser therapy at 904 nm works. Thirty Wistar rats with superficial wounds on the backs were used in this study. The laser therapy device used two energy levels of a 904 nm laser with an output power of 60 mW. The outcomes had been evaluated for one, three, five, seven, and fourteen days following laser therapy. Numerous methods, including as histology, immunohistochemistry, and scanning electron microscopy, have been used to evaluate the tissues.There was a statistically important ( P ≤ .05) decrease in the number of inflammatory cells and the degree of edema after laser therapy. On the other hand, the amounts of elastic fiber as well as collagen slightly increased. On the third post-laser treatment day, there was a statistically significant distinction ( P < .05) in the number of myofibroblasts with the desmin; smooth muscle alpha-actin phenotype between the laser-treated and control groups.These results suggest that, compared to a higher energy of 5.6 J, laser therapy at a lower energy of 3.6 J may be more effective in stimulating myofibroblast differentiation during the initial phases of wound healing. These findings show how low-power laser therapy promotes wound healing.
Role of digital subtraction angiography in acute cervical spinal cord ischemia
Authors: Intikhab Osama , Cristiano Brian , Tehrani Ali , Zeiler Steven , Felling Ryan J. , Gailloud Philippe
Published: August 2024

Ascertaining the etiology of cervical spinal cord dysfunction presents a challenge to clinicians, as the list of differential diagnoses is extensive. Although compressive and inflammatory disorders are common and should be considered immediately, vascular causes are similarly important and acute. The overlap of clinical, magnetic resonance imaging, and cerebrospinal fluid features among the causes of myelopathies may lead to erroneous diagnoses. Such errors may be compounded if routine vascular imaging does not reveal the underlying vasculopathy. We present here three cases in which computed tomography angiography and magnetic resonance angiogram could not clarify the nature of an acute myelopathy, whereas digital subtraction angiography established the diagnosis of spinal cord ischemia.
Networking among deputy superintendents – Window dressing or navigating complexity?
Authors: Svedberg Lars , Ärlestig Helene
Published: August 2024

External networks among deputy superintendents seem to be an increasing phenomenon in a sector that faces a rapid change and a high working load. Is this the new way to learn and improve the organization or just a social gathering with little value? In this study, the significance of networking among deputy superintendents is explored. This group of middle managers is less studied compared to superintendents. The following questions have guided the study: How are their networks designed? What themes and issues do they focus on? What networks are considered relevant? The data for this study were collected through a survey of participants in a seminar series arranged by the Swedish National Professional Association for Superintendents. Networking appears to blend operational, personal, and strategic issues, intertwining practical matters with personal and professional growth to address present challenges and future requirements. Even if networking is seen as less formal it requires individual engagement as it is embedded in a process to become a professional space that benefits both the individual and the school organization. Networks appear to provide essential resources for navigating the complexities embedded in tangled logics and the frequently unpredictable processes that follow.
Perioperative pathways for children with neurodevelopmental conditions and behaviours that challenge: An evaluation of parent experiences for service improvement
Authors: Ong Natalie , Ahuja Hema , de Lima Jonathan , Tomsic Gail , Garg Pankaj , Silove Natalie , Henao Urrego Bobbi , Weatherall Andrew
Published: August 2024

Previous research shows that children and young people with neurodevelopmental conditions experience greater challenges accessing care in hospitals and having their health needs met.

Aim:

To elicit experiences of parents of children with neurodevelopmental conditions using a new perioperative pathway.

Method:

Parents of children accessing an adapted perioperative clinical pathway in a tertiary children’s hospital between July 2019 and December 2020 were invited to participate. A mixed method study was conducted comprising a short survey questionnaire followed by telephonic interviews.

Results:

From 67 postal surveys sent out, 20 were completed. Six out of 20 parents participated in phone interviews and one parent submitted written prose. Parents were positive about their experiences. Six themes emerged: Negative past experiences (highlighting the need for adapted perioperative pathways); Reasonable adjustments (improving child and parent’s hospital journey); Facilitating communication, convenience and collaboration; Parent’s satisfaction and relief; Barriers to overcome and Areas in need of improvement were discussed.

Conclusion:

Parents of children with neurodevelopmental conditions report great satisfaction and relief from their experiences of a more efficient, streamlined and stress-free way for their child to have tests or procedures done. Parents report improved communication, convenience and collaboration with staff resulted in timely, safe and high-quality care.
Contribution of intrapulmonary shunt to the pathogenesis of profound hypoxaemia in viral infection: a mechanistic discussion with an illustrative case
Authors: Lyne Tom , Camporota Luigi , Montgomery Hugh
Published: August 2024

Background:

The formation of anastomoses between the pulmonary arteries and pulmonary veins, or the pulmonary and the bronchial circulation, is part of normal foetal lung development. They persist in approximately 30% of adults at rest, and open in almost all adults during exertion. Blood flowing through these anastomoses bypasses the alveolar surface and increases in such shunting can thus cause hypoxaemia. This is now known to contribute to the pathogenesis of hypoxaemia in COVID-19 disease. We here provide evidence to support a similar role in influenza A infection.

Illustrative case presentation:

We describe a case of influenza A infection associated with severe hypoxaemia, poorly responsive to supplemental oxygen and which worsened following the application of continuous positive airway pressure (CPAP), despite the presence of a normal physical examination, chest radiograph and echocardiogram. This combination suggests a significant intrapulmonary (extra-alveolar) shunt as a cause of the severe hypoxaemia. The shunt fraction was estimated to be approximately 57%.

Discussion and conclusion:

Intrapulmonary vascular shunts can contribute substantially to hypoxaemia in viral infection. Seeking to understand the pathogenesis of observed hypoxaemia can help guide respiratory therapy. Mechanistic research may suggest novel therapeutic targets which could assist in avoiding intubation and mechanical ventilatory support.
Democratically digging together: A study of archaeology and civil society
Authors: Collins Neil , Doumani Dupuy Paula N , Zamanbekova Altynay
Published: August 2024

Protecting archaeological sites increases the sense of belonging among the population. Political culture in authoritarian countries limits citizens’ opportunities for freedom of action and civic engagement. The authorities may perceive such engagement as a threat to the regime. Nevertheless, civic activism in protecting archaeological sites can provide an opportunity to increase the role of civil society in policymaking. This article interrogates civil society’s role concerning archaeology and its preservation in Kazakhstan. It considers three cases of how local communities participate in archaeological projects and their protection. It concludes that the degree of community involvement and the number of people involved in rural and urban settings differ. Kazakhstan occasionally manifests vigorous civic activity on archaeological issues at the national level. However, a certain level of resistance may demonstrate the potential for democratic development, with archaeology as one of the practical tools of civil liberty at the grassroot level.
Xanthine Oxidase Inhibitory Activity of Some Vietnamese Remedies Used to Treat Bi Syndrome in Traditional Medicine
Authors: Duong Duc Phan Nguyen , Tran Chen Van , Chung My-Duyen Thi , Nguyen Bay Thi , Nguyen Triet Thanh
Published: August 2024

Background

Hyperuricemia is a metabolic disorder caused by abnormalities in purine metabolism that increase serum uric acid. Some traditional medicine remedies have been proven to cause hypouricemia by inhibiting xanthine oxidase. In Vietnam, some remedies that eliminate wind, cold, and dampness have been used to treat gouty arthritis, but there is still a lack of scientific evidence regarding the underlying biological mechanisms involved. This study aimed to assess the xanthine oxidase inhibitory activity in vitro and the hypouricemic effects of several Vietnamese remedies used to treat Bi syndrome in traditional medicine.

Methods

The chosen remedies that met our criteria were successively extracted with 70% ethanol. A preliminary investigation of the chemical composition of the extracts was performed by common chemical reactions. The in vitro xanthine oxidase inhibitory activity of the extracts was investigated using the procedure of Noro et al (1983). Acute toxicology and hypouricemic effect of the remedy that showed the highest xanthine oxidase inhibitory activity were investigated in vivo using a potassium oxonate-induced hyperuricemic mouse model.

Results

Five remedies that met the criteria were chosen. Phytochemical screening of all the extracts revealed the presence of flavonoids, saponins, alkaloids, tannins, and carbohydrates. The Bai nghiem phuong 2 extract did not show xanthine oxidase inhibitory activity whereas the Thang Tri Te Thap extract, which exhibited the highest inhibitory xanthine oxidase activity with an IC50 value of 48.33 ± 0.41 µg/mL, was selected for the subsequent in vivo experiments. The Thang Tri Te Thap extract did not cause acute toxicity, with a Dmax of 31.67 g/kg. At doses of 1.5 g/kg and 3 g/kg, Thang Tri Te Thap significantly reduced the serum uric acid concentration by 59.84 ± 5.79% and 65.01 ± 12.73%, respectively (p < 0.05).

Conclusions

Thang Tri Te Thap showed xanthine oxidase inhibitory activity in vitro and hypouricemic effects in vivo.
Left-sided perforated appendicitis in a patient with situs inversus totalis, a case report
Authors: Abebe Wondu Mekonnen , Workalemahu Deribe Mekonnen , Leta Robera Amenu , Asefa Mezgebu Alemnah , Alemu Hirut Tesfahun , Molla Yohannis Derbew
Published: August 2024

Situs inversus, an uncommon disorder, causes the orientation of asymmetric organs to be opposite to that of normal anatomy. It can be either partial, affecting only the thoracic or abdominal cavities, or full, involving the transposition of both the thoracic and abdominal organs. A 31-year-old Ethiopian male patient presented with migratory abdominal pain in the left lower quadrant for 3 days. Associated with the pain, he experienced symptoms of nausea, vomiting of ingested matter, and loss of appetite. Investigations were consistent with left-sided appendicitis with situs inversus totalis. Therefore, the patient was operated on and discharged with no perioperative complications. Appendicitis is a rare cause of left lower quadrant pain. In order to reduce the delay in patient treatment and avoidable perioperative complications, emergency physicians, radiologists, and surgeons must become more knowledgeable about situs inversus and left side appendicitis.
Automated machine learning models for nonalcoholic fatty liver disease assessed by controlled attenuation parameter from the NHANES 2017–2020
Authors: Liu Lihe , Lin Jiaxi , Liu Lu , Gao Jingwen , Xu Guoting , Yin Minyue , Liu Xiaolin , Wu Airong , Zhu Jinzhou
Published: August 2024

Background

Nonalcoholic fatty liver disease (NAFLD) is recognized as one of the most common chronic liver diseases worldwide. This study aims to assess the efficacy of automated machine learning (AutoML) in the identification of NAFLD using a population-based cross-sectional database.

Methods

All data, including laboratory examinations, anthropometric measurements, and demographic variables, were obtained from the National Health and Nutrition Examination Survey (NHANES). NAFLD was defined by controlled attenuation parameter (CAP) in liver transient ultrasound elastography. The least absolute shrinkage and selection operator (LASSO) regression analysis was employed for feature selection. Six algorithms were utilized on the H2O-automated machine learning platform: Gradient Boosting Machine (GBM), Distributed Random Forest (DRF), Extremely Randomized Trees (XRT), Generalized Linear Model (GLM), eXtreme Gradient Boosting (XGBoost), and Deep Learning (DL). These algorithms were selected for their diverse strengths, including their ability to handle complex, non-linear relationships, provide high predictive accuracy, and ensure interpretability. The models were evaluated by area under receiver operating characteristic curves (AUC) and interpreted by the calibration curve, the decision curve analysis, variable importance plot, SHapley Additive exPlanation plot, partial dependence plots, and local interpretable model agnostic explanation plot.

Results

A total of 4177 participants (non-NAFLD 3167 vs NAFLD 1010) were included to develop and validate the AutoML models. The model developed by XGBoost performed better than other models in AutoML, achieving an AUC of 0.859, an accuracy of 0.795, a sensitivity of 0.773, and a specificity of 0.802 on the validation set.

Conclusions

We developed an XGBoost model to better evaluate the presence of NAFLD. Based on the XGBoost model, we created an R Shiny web-based application named Shiny NAFLD ( http://39.101.122.171:3838/App2/ ). This application demonstrates the potential of AutoML in clinical research and practice, offering a promising tool for the real-world identification of NAFLD.
Anterior Cruciate Ligament Ruptures in Russian Premier League Soccer Players During the 2010 to 2021/2022 Competitive Seasons: The Epidemiology and Details of Return to Sports
Authors: Bezuglov Eduard , Malyakin Georgiy , Emanov Anton , Baranova Irina , Stepanov Igor , Goncharov Evgeniy , Shoshorina Maria , Izmailov Sergey , Morgans Ryland
Published: August 2024

Background:

There are limited data on the epidemiology of anterior cruciate ligament (ACL) ruptures in elite adult soccer players, especially in the Russian Premier League (RPL). There is an increased risk of injury due to a combination of additional risk factors such as playing in extremely high and low temperatures, frequent long flights, and regular play on natural and artificial surfaces.

Purpose:

To study the epidemiology of ACL ruptures and determine the patterns associated with their occurrence in RPL soccer players.

Study Design:

Descriptive epidemiology study.

Methods:

All ACL ruptures requiring surgery sustained by players competing in the RPL across 12 competitive seasons between 2010 and 2022 were analyzed. All required data were collected from media analysis and confirmed by club doctors.

Results:

A total of 85 players sustained 100 injuries during 12 competitive seasons. A total of 96.5% of players returned to competitive play. The injury incidence in RPL and during participation of RPL teams in European Cups were 0.4760 and 0.5622 per 1000 playing hours, respectively. When analyzing the outcomes of the primary ACL surgery (a total of 76 operations), the following data were obtained: in 11 cases (14.5%), there was a reinjury on the ipsilateral knee joint and in 4 cases (5.3%) on the contralateral knee joint. The mean return–to-play time after all operations was 284 ± 116 days. The time of return to play after primary reconstruction was 289 ± 136 days, 278 ± 91 days after reconstruction on the contralateral knee and 271 ± 51.5 days after the first ACL revision reconstruction on the ipsilateral knee joints.

Conclusion:

RPL ACL injury epidemiology is similar to that in the other leagues from around the world, although there are factors that can potentially influence the number of these injuries.
Smartphone Use by Caregivers for Patients With Heart Failure During Hospitalization: An Investigation
Authors: Huang XianNan , Lu Liuxue , Pan Xingshou , Lai Teng Fang , Huang Da , Liu ZhengJiang
Published: August 2024

This study investigated the use of smartphones by family caregivers for hospitalized patients with chronic heart failure (CHF). In total, 120 patients and their unpaid family caregivers participated in this study. The caregivers were divided into two groups based on the perceived importance of smartphones in patient care. Both groups completed the General Demographic Information Survey, Problematic Mobile Phone Use Questionnaire, Barthel Index Scale, Modified Early Warning Score (MEWS), Johns Hopkins Fall Risk Assessment Tool (JH-FRAT), and Family Burden Scale of Diseases Survey. Moreover, left ventricular ejection fraction (LVEF) and stroke volume (SV) were measured in all participants. The age of hospitalized patients with CHF was correlated with the Barthel Index Scale, MEWS, and JH-FRAT, whereas LVEF and SV were correlated with MEWS. The important group had a much higher financial burden than the nonimportant group. Linear regression analysis revealed that financial burden and mental health had a remarkable impact on the content of mobile calls about treatment. Furthermore, the economic status of family caregivers determined the importance of smartphone calls in the care of patients with CHF during hospitalization.
Effects of Entrepreneurship Education Components on Entrepreneurial Intentions in Oman
Authors: Kassim Norizan Mohd , Alshukaili Abdallah , Zain Mohamed , Ravi Anju , Muneerali Mohammed , Sharif Khurram
Published: August 2024

Despite the many studies on entrepreneurship education programs to date, their findings have mainly reported on the changes in attitudes and intentions toward entrepreneurship without answering the questions of what precisely caused these changes. Little has been written and elaborated on the specific effects of entrepreneurship education components. This study integrates Johannisson’s four components of entrepreneurship education into Azjen’s Theory of Planned Behavior model. The model was conveniently tested among undergraduate students in higher education institutions in Oman through an online survey. The results show that the best-fit structural model supports the notion that the systematic entrepreneurship education components are interrelated, and they in fact drive the three antecedent variables of the TPB and entrepreneurial intentions. In addition, the findings also support the assertion that students’ entrepreneurship education (i.e., know-what) solely influences their entrepreneurial intentions. Practical implications of the findings and suggestions for future research are also discussed.
Effects of the volume fraction on the microstructural and mechanical properties of TiCp/high-manganese steel composites
Authors: Zhao Shengnian , Lu De-Hong , Wang Fengbin , Du Jianming , Jiang Yehua
Published: August 2024

To improve the adaptability to complex shaped products, TiC particulates (TiCp) reinforced high-manganese steel matrix (TiCp/HMS) composites were prepared by the squeeze casting infiltration method, and the microstructure and the mechanical properties of the composites were investigated, with different TiCp volume fractions (35%, 50%, 65%). Water glass was applied as binder in the TiCp preforms, in which iron powder was added to adjust the TiCp fractions, and Si powder to activate the bonding of TiCp/steel interface. The results showed that with the increase of the volume fraction, the hardness of the composites increases gradually, with the highest reaching 60.7 HRC at 65 % TiCp, which is 2.7 times that of the matrix. However, the bending strength decreases gradually, with the maximum 439.0 MPa obtained at 35% TiCp. The impact toughness of the composites changes slightly. Due to the use of water glass, brittle glass phase is formed at the TiCp/steel interface, which reduces the mechanical properties of the composites. The addition of Si powder can improve the comprehensive mechanical properties of the composites.
Blood pressure variability and prognostic significance in traumatic brain injury: analysis of the eICU-CRD database
Authors: Zhang Shao-Yang , Li Chang-Li , Yin Jian , Jiang Meng , Yang Xiao-Feng
Published: August 2024

Background

Preliminary evidence demonstrates that visit-to-visit systolic blood pressure (SBP) variability is a prognostic factor of TBI. However, literature regarding the impact of initial blood pressure management on the outcomes of TBI patients is limited. We aimed to further validate the clinical significance of BPV on the prognostic outcomes of patients with TBI.

Methods

We performed the analysis by using individual patient-level data acquired from the eICU-CRD, which collected 200,859 ICU admissions of 139,367 patients in 2014 and 2015 from 208 US hospitals. Adult patients with traumatic intraparenchymal hemorrhage or contusion were included. The primary outcome was in-hospital mortality and the secondary outcome was discharge-home rate. Blood pressure variability (BPV) was calculated according to standard criteria: at least six measurements were taken in the first 24 h (hyperacute group) and 36 over days 2–7 (acute group). We estimated the associations between BPV and outcomes with logistic and proportional odds regression models. The key parameter for BPV was standard deviation (SD) of SBP, categorized into quintiles. We also calculated the average real variability (ARV), as well as maximum, minimum, and mean SBP for comparison in our analysis.

Results

We studied 1486 patients in the hyperacute group and 857 in the acute group. SD of SBP had a significant association with the in-hospital mortality for both the hyperacute group (highest quintile adjusted OR 2.28 95% CI 1.18–4.42; ptrend<0.001) and the acute group (highest quintile adjusted OR 2.17, 95% CI 1.08–4.36; ptrend<0.001). The strongest predictors of primary outcome were SD of SBP in the hyperacute phase and minimum SBP in the acute phase. Associations were similar for the discharge-home rate (for the hyperacute group, highest quintile adjusted OR 0.58, 95% CI 0.37–0.89; ptrend<0.001; for the acute group OR 0.55, 95% CI 0.32–0.95; ptrend<0.001).

Conclusion

Systolic BPV seems to predict a poor outcome in patients with TBI. The benefits of early treatment to maintain appropriate SBP level might be enhanced by smooth and sustained control.
Willingness to participate in a personalized health cohort – insights from the swiss health study pilot phase
Authors: Bühler Nolwenn , Frahsa Annika , Jaramillo Nathalia González , Bourqui Réjane Morand , Nusslé Semira Gonseth , Zuppinger Claire , Bochud Murielle , von Goetz Natalie
Published: August 2024

Background

This paper explores the feasibility of establishing a large-scale population-based cohort and biobank in Switzerland by assessing potential participants’ needs, expectations, and concerns about such an infrastructure providing information on health, lifestyle, and exposure trajectories, the development of disease, and risk factors over time.

Methods

We utilized a scenario-based questionnaire in the Swiss Health Study pilot phase (2020–2021), involving 1349 adults aged 20–69 from the cantons Vaud and Bern. We conducted descriptive statistics supported by R and qualitative content analysis of n = 374 open responses related to attitudes towards research.

Results

We highlight the benefits and challenges of the scenario-based approach, discuss the sample represented in the pilot phase, and present implications for building a full cohort. We also report on participants’ attitudes towards and previous experience with health research. We analyze references regarding informed consent and feedback, attitudes towards the Swiss Health Study, and recommendations on improving its scope, design, and instruments. Results indicate a high interest (90%) in participating in a national health study, with 85% of a random population sample willing to join a long-term cohort. Only 43% were familiar with biobanks, and 44% preferred general consent. Trust was high for Swiss-based public research but lower for researchers from other countries or private sector. Over 95% expressed willingness to complete online questionnaires, undergo physical examination, and donate biosamples. Almost all participants wanted to know the outcomes of the medical tests (99.5%) and the exposure to environmental stressors (95%) from their study center visit. Preferred tools for monitoring sleep, physical activity, and diet were known smartphone apps with automatic data management.

Conclusion

Overall, the study reveals a positive attitude towards personalized health research, with a strong willingness to share data and samples. Key insights focus the meaning of informed consent for participation, the relevance of sampling and representativeness, as well as the significance and challenges of personalized feedback, especially regarding environmental health concerns. Findings emphasize participants’ supportive yet reflexive stances, underscoring the importance of aligning research values with individual values in personalized health research. These insights contribute valuable considerations for refining the scope, design, and instruments of future cohort studies.
Effects of a skin type diversity seminar on undergraduate medical students’ self-assessed competence in managing skin diseases in patients with skin of color
Authors: Abeck Finn , Heinen Ines , Sommer Rachel , Blome Christine , Härter Martin , Augustin Matthias , Schneider Stefan W. , Hansen-Abeck Inga , Booken Nina
Published: August 2024

Background

Skin diseases in patients with skin of colour (Fitzpatrick skin types IV to VI) are underrepresented in dermatology training, which may lead to lower quality of care for these patients. To address this underrepresentation in medical education, a newly developed seminar on skin type diversity using an interactive teaching method was implemented in an undergraduate medical curriculum. This study examined the effects of a seminar on the self-assessed competence of medical students in managing skin conditions in patients with skin of colour.

Methods

A questionnaire survey was conducted among fourth-year undergraduate medical students at the University of Hamburg (Germany) between October 2023 and February 2024. Students’ self-assessed competence was compared before and after the obligatory seminar (pre- and post-design).

Results

In total, 158 students participated in the survey. After the seminar, knowledge of the presentation of skin diseases in patients with skin of colour and the associated psychological burden, differences in the incidence of skin diseases in different skin types, and the ability to diagnose skin diseases in darker skin types increased. Most participants stated that they wanted to attend more courses on this topic.

Discussion

Appropriate courses for medical students can improve their competence in managing different skin diseases in patients with skin of colour. In the future, more attention should be paid to teaching the diversity of skin types in dermatology education.
Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study
Authors: Khashei Varnamkhasti Khalil , Khashei Varnamkhasti Samire , Shahrouzian Atefeh , Rahimzadeh Masoomeh , Naeimi Leila , Naeimi Behrouz , Naeimi Sirous
Published: August 2024

Background

The apparent lack of additional missense mutations data on mixed-phenotype leukemia is noteworthy. Single amino acid substitution by these non-synonymous single nucleotide variations can be related to many pathological conditions and may influence susceptibility to disease. This case-control study aimed to unravel whether the ZAP70 missense variant (rs104893674 (C > A)) underpinning mixed-phenotype leukemia.

Methods

The rs104893674 was genotyped in clients who were mixed-phenotype acute leukemia-, acute lymphoblastic leukemia- and acute myeloid leukemia-positive and matched healthy controls, which have been referred to all major urban hospitals from multiple provinces of country- wide, IRAN, from February 11’ 2019 to June 10’ 2023, by amplification refractory mutation system-polymerase chain reaction method. Direct sequencing for rs104893674 of the ZAP70 gene was performed in a 3130 Genetic Analyzer.

Results

We found that the AC genotype of individuals with A allele at this polymorphic site (heterozygous variant-type) contribute to the genetic susceptibility to acute leukemia of both forms, acute myeloid leukemia and acute lymphoblastic leukemia as well as with a mixed phenotype. In other words, the ZAP70 missense variant (rs104893674 (C > A)) increases susceptibility of distinct cell populations of different (myeloid and lymphoid) lineages to exhibiting cancer phenotype. The results were all consistent with genotype data obtained using a direct DNA sequencing technique.

Conclusion

Of special interest are pathogenic missense mutations, since they generate variants that cause specific molecular phenotypes through protein destabilization. Overall, we discovered that the rs104893674 (C > A) variant chance in causing mixed-phenotype leukemia is relatively high.
The cGAS-STING pathway in COPD: targeting its role and therapeutic potential
Authors: Liao Kexin , Wang Fengshuo , Xia Chenhao , Xu Ze , Zhong Sen , Bi Wenqi , Ruan Jingjing
Published: August 2024

Chronic obstructive pulmonary disease(COPD) is a gradually worsening and fatal heterogeneous lung disease characterized by airflow limitation and increasingly decline in lung function. Currently, it is one of the leading causes of death worldwide. The consistent feature of COPD is airway inflammation. Several inflammatory factors are known to be involved in COPD pathogenesis; however, anti-inflammatory therapy is not the first-line treatment for COPD. Although bronchodilators, corticosteroids and roflumilast could improve airflow and control symptoms, they could not reverse the disease. The cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling pathway plays an important novel role in the immune system and has been confirmed to be a key mediator of inflammation during infection, cellular stress, and tissue damage. Recent studies have emphasized that abnormal activation of cGAS-STING contributes to COPD, providing a direction for new treatments that we urgently need to develop. Here, we focused on the cGAS-STING pathway, providing insight into its molecular mechanism and summarizing the current knowledge on the role of the cGAS-STING pathway in COPD. Moreover, we explored antagonists of cGAS and STING to identify potential therapeutic strategies for COPD that target the cGAS-STING pathway.