bluuebunny/crossref_metadata_2025 huggingface dataset:
Analysis of an actively controlled composite box manipulator without external actuator
Authors: Lök Şefika İ , Malgaca Levent , Uyar Mehmet
Published: October 2023

This study focuses on active vibration control for a single-link composite box manipulator by using a single actuator for driving and control actions. Model extraction and system identification techniques are studied to obtain mathematical models of the manipulator. The state space model is extracted from the finite element model using modal analysis conducted in ANSYS, while the system identification approach is an experimental modeling method using the input and output signals of the system. The input signals are defined as triangular and trapezoidal motion profiles, while the output signals are the acceleration signals of the manipulator. Proportional derivative and positive position feedback controllers are implemented on the obtained mathematical models to reduce residual vibrations. The simulation results are successfully verified by experiments, and uncontrolled/controlled results are evaluated with reduction rates.
Innovation, Appropriate Technologies and Entrepreneurship for Global Sustainability Development: A Review Until the Early Twenty-first Century
Authors: Régnier Philippe
Published: October 2023

Appropriate technology and development have been disseminated globally as a concept and practice under various terminologies such as adaptive technology, accessible and cheap technology, community technology, low-cost technology, intermediary technology, and so on, especially for grassroots community development. Originating from Gandhi’s anti-colonial campaigns and further expanded by Schumacher’s ideas, the concept gained momentum with the rise of emerging economies such as Brazil, China, India and South Africa. These countries embraced appropriate technology, offering affordable, user-friendly solutions that matched local needs and resources, contrasting with capital-intensive methods. The digital revolution in the twenty-first century further diversified appropriate technology, permitting the widespread adoption of affordable and sustainable solutions across sectors and nations. This study also explores how emerging economies transitioned from being viewed as low-tech suppliers to becoming innovators in high-tech spheres. These emerging economies have developed localised research and development centres, embraced open science and technology collaboration and engaged in reverse technology entrepreneurship by adapting and exporting technology-driven products to developing and developed countries. Furthermore, frugal innovation arises as a response to pressing sustainability challenges. It encourages simple, environmentally friendly designs that promote longevity and efficient resource practice. From its very beginnings and even more today, innovation in appropriate/frugal technologies has continued to make clear contributions to various forms of entrepreneurship for sustainable development. The study concludes that proper technology and frugal innovation are becoming global norms, endorsed by G7, G20 and United Nations member states, as they address economic and sustainable development goals, ultimately benefitting a broader spectrum of societies globally.
Evolution of Consumer Brand Engagement in Past Two Decades: A Systematic Analysis
Authors: Ubgade Pritha Nasery , Joshi Sujata
Published: October 2023

In recent years, as new technologies have developed, consumer engagement with the brand has become a primary focus for many companies. As a result, in the last two decades, there has been a tremendous rise in the number of researches on consumer brand engagement due to the many innovative ways companies use for consumer engagement. This article analyses consumer brand engagement studied across the globe during the last two decades using advanced bibliometric analysis tools such as Biblioshiny and VOSviewer. By analysing a total of 981 research articles written from the year 2000 onwards in various journals indexed in Scopus. The study tries to map the literature on consumer brand engagement and its progress in terms of technological advancements. The results indicate that there has been a steady rise in the research conducted on consumer brand engagement since 2010. The United States is one of the major contributing countries in the number of studies on consumer brand engagement. As it is a multidisciplinary field, studies are conducted in different fields such as psychology, management, etc., which is observed from the journal-wise analysis. This study analyses that the introduction of newer technologies has direct impact on the number of researches conducted. Thus, the study provides relevant inputs to practitioners and academicians regarding further development on this topic.
Imaging features of renal ectopia and fusion in 13 cats
Authors: Slinkard Powell T , Anson Augstina , Specchi Swan , Frau Tascon Maria , Muñiz-Moris Laura , Penninck Dominique , Ondreka Nele Eley
Published: October 2023

Case series summary

A retrospective multicenter case series of renal fusion anomalies in cats was investigated. The aim of this study was to describe the imaging characteristics (radiography, ultrasonography and CT) of renal ectopia and fusion in cats. A total of 13 feline patients (median age 9 years) were included in this multicentric retrospective study. Ultrasound was available in 12/13 cases, radiographs in 4/13 cases and CT in 3/13 cases. Of the 13 cases, seven were left to right fusions, four were right to left fusions, one was on the midline and one was in the pelvic inlet. Adopting a human classification system, there were five lump kidneys, four disc kidneys, one horseshoe kidney, one caudal ectopia, one L-shaped kidney and one pelvic kidney. In 2/13 cases, additional congenital malformations were noted, including an azygous continuation of the caudal vena cava and a peritoneal-pericardial diaphragmatic hernia.

Relevance and novel information

This study provides further description of the imaging findings in feline patients with fused renal ectopia. The morphologic characteristics of the fused kidneys in cats appear similar to what is published in the human literature. Renal fusion might be an incidental finding in cats, but further investigations are necessary to determine their clinical relevance.
The contradictory field of community organizing in the United States: A theoretical framework
Authors: Nicholls Walter Julio , Hernandez Ashley Camille
Published: October 2023

The urban studies and planning literatures largely conceive of community organizations as either clients of neoliberal regimes or the advocates of marginalized communities. Whereas the first emphasizes structural constraints, the latter focuses on the conditions that permit organizations to exercise agency in planning arenas. This theoretical paper suggests that both frameworks reveal important mechanisms but belie the contradictory pressures facing community organizations. We turn to organizational and social movement literatures to argue that community organizations face two competing forces stemming from resource needs. First, they need money to maintain a staff and finance basic operations. As these are nonprofit organizations, money typically comes from external private and public grants. Second, for communities to support organizations and delegate them representative functions, the organizations need to be considered legitimate by the community. Though community organizations need both money and legitimacy, these resources conflict with one another. Too much dependency on external funders can undercut an organization’s legitimacy to represent community interests in an autonomous and unconflicted way. Too much autonomy from external funders can enhance the legitimacy of organizations, but it can also result in financial destitution. Thus, rather than conceive of community organizations as structural puppets or the voice of the people, we suggest that most are positioned in a contradictory field that pulls them in conflicting directions.
Resveratrol Inhibits Abdominal Aortic Aneurysm Progression by Reducing Extracellular Matrix Degradation, Apoptosis, Autophagy, and Inflammation of Vascular Smooth Muscle Cells via Upregulation of HMOX1
Authors: Qu Yunfei , Zhang Ning , Zhao Yu
Published: October 2023

Objective:

This study aimed to explore the therapeutic effect of resveratrol (RES) against abdominal aortic aneurysm (AAA) and the role of HMOX1 underlying this effect.

Methods:

Vascular smooth muscle cells (VSMCs) were induced by angiotensin II (Ang II) to construct the microenvironment of AAA. HMOX1 expression was downregulated by the short hairpin ribonucleic acid (RNA) specific to HMOX1 in RES-pretreated VSMCs. The levels of matrix metalloproteinase (MMP)-2, MMP-9, and elastin were measured by quantitative reverse transcription polymerase chain reaction (qRT-PCR) and western blot. Apoptosis rate was detected. The levels of apoptosis-related proteins (caspase-3 and Bax/Bcl-2), inflammatory cytokines (interleukin [IL]-6, tumor necrosis factor [TNF]-α, and IL-1β), and autophagy-related proteins (Beclin 1, light chain 3 [LC3] II/I, and p62) were detected by western blot. The secretion of inflammatory factors in cell supernatant was detected by enzyme-linked immunosorbent assay (ELISA). The number of autophagic vesicles in VSMCs was observed and analyzed by transmission electron microscopy. A rat model of pancreatic elastase-induced AAA was established to verify the effect and action mechanism of RES.

Results:

Stimulation of Ang II increased the messenger RNA (mRNA) and protein levels of MMP-2 and MMP-9, decreased elastin expression, and enhanced apoptosis, secretion of inflammatory factors, and autophagy in VSMCs, whereas RES pretreatment ameliorated Ang II-induced VSMC dysfunction. In addition, HMOX1 mRNA and heme oxygenase-1 (HO-1) protein levels were significantly increased in VSMCs pretreated with RES compared with Ang II treatment alone. Silencing of HMOX1 abolished the effects of RES on VSMC dysfunction. Consistently, RES suppressed the development of AAA in rats by increasing the expression of HMOX1.

Conclusion:

Resveratrol protects against AAA by inhibiting extracellular matrix degradation, apoptosis, autophagy, and inflammation of VSMCs via HMOX1 upregulation.

Clinical Impact

Our study found that angiotensin II (Ang II) stimulated increased the levels of MMP-2 and MMP-9 in vascular smooth muscle cells (VSMCs), decreased elastin expression, and promoted apoptosis, autophagy occurrence, and secretion of inflammatory factors, while resveratrol (RES) pretreatment improved this effect. In addition, downregulation of HMOX1 expression eliminated the effect of RES on the function of VSMCs. Our study elucidates that RES improves AAA progression through HMOX1 at both cellular and animal levels. This work can help doctors better understand the pathological mechanism of the occurrence and development of AAA, and provide a theoretical basis for clinicians to find better treatment options.
Relationship of Serum Vitamin D Levels With Diabetic Foot in Patients With Type 2 Diabetes Mellitus: A Cross-Sectional Study
Authors: Atoum Manar Fayiz , Al Shdaifat Amjad , Al Hourani Huda , Al Hyari Muwafag , Zahran Reema , Abu Shaikh Hanan
Published: October 2023

Background and aims: Diabetic foot is one of the most severe complications in patients with diabetes mellitus and has been linked to 25-OH-vitamin D status. This study aims to determine the prevalence of 25-OH-vitamin D deficiency and its association with diabetic foot. Methods: Patients with type 2 diabetes mellitus were enrolled in this study. The patients were divided into the diabetic foot group (n = 95) and the non-diabetic foot group (n = 388). Weight, height, and waist circumference were measured. The 25-OH-vitamin D and the other biochemical tests were extracted from the electronic medical records. The difference in clinical parameters between the diabetic foot group and the non-diabetic foot group was analyzed, and the risk factors of the diabetic foot group were analyzed using logistic regression. Results: The prevalence of 25-OH-vitamin D deficiency was 44.6%, accounting for 57.9% of all the diabetic foot group patients and only 41.0% of the non-diabetic foot group patients. The mean serum 25-OH-vitamin D level was significantly different between the diabetic foot group and the non-diabetic foot group (19.8 ± 9.5 vs 24.1 ± 11.8; P = .011). Serum 25-OH-vitamin D and B12 were found to have a significant positive correlation ( r = 0.410, P = <.01). The 25-OH-vitamin D level and body mass index were independently associated with diabetic foot ( P = .043, OR = 1.21; P = .009, OR =  1.47), respectively. Conclusions: The 25-OH-vitamin D deficiency was higher in the diabetic foot group. More research is needed to understand the role of 25-OH-vitamin D in the development of diabetic foot.
Impact of csDMARDs adherence on clinical remission in patients with new-onset inflammatory arthritis: a prospective cohort study from the ELECTRA database
Authors: Zanetti Anna , Zambon Antonella , Scirè Carlo A. , Bugatti Serena , Montecucco Carlomaurizio , Sakellariou Garifallia
Published: October 2023

Background:

Major improvements in the management of rheumatoid arthritis (RA) have made clinical remission an achievable and desirable goal but, despite the relevance gained by a profound disease suppression, many patients with RA still miss clinical remission due to several factors influencing disease activity, including treatment adherence.

Objective:

To evaluate the effect of adherence to conventional synthetic disease-modifying anti-rheumatic drugs (csDMARDs) on the achievement of clinical remission in a cohort of patients with new-onset inflammatory arthritis.

Study design:

A prospective cohort study was conducted using the ELECTRA database, which consists of clinical data from patients followed at the IRCCS Policlinico San Matteo Foundation (Pavia, Italy), linked to regional administrative healthcare databases.

Methods:

We enrolled patients with new-onset active disease between January 2006 and December 2013 and followed them until their first clinical remission or end of follow-up (December 2015). To assess the association of csDMARD adherence with clinical remission, we estimated the csDMARD proportion of days covered (PDC) during follow-up. PDC was added to the main clinical adjustment covariates as a time-dependent variable in a proportional hazard Cox regression model.

Results:

The cohort included 324 patients with a mean (SD) age of 58 (13.9) and predominantly female (74.5%). A total of 219 patients (67.6%) achieved clinical remission during follow-up and 85 (26.2%) in the first 6 months (early clinical remission). Cox regression models showed that a 10% increment of PDC increased the probability of achieving clinical remission by 10% ( p < 0.001) and the probability of early clinical remission by 21% ( p = 0.03).

Conclusion:

Patients at disease onset with higher adherence to csDMARDs were more likely to achieve clinical remission and early clinical remission. Our study highlighted the importance of close monitoring of patients to increase their likelihood of following therapeutic indications and achieving favorable disease outcomes, such as lower disability.
Outlier bias: AI classification of curb ramps, outliers, and context
Authors: Deitz Shiloh
Published: October 2023

Technologies in the smart city, such as autonomous vehicles and delivery robots, promise to increase the mobility and freedom of people with disabilities. These technologies have also failed to “see” or comprehend wheelchair riders, people walking with service animals, and people walking with bicycles—all outliers to machine learning models. Big data and algorithms have been amply critiqued for their biases—harmful and systematic errors—but the harms that arise from AI's inherent inability to handle nuance, context, and exception have been largely overlooked. In this paper, I run two machine learning models across nine cities in the United States to attempt to fill a gap in data about the location of curb ramps. I find that while curb ramp prediction models may achieve up to 88% accuracy, the rate of accuracy varied in context in ways both predictable and unpredictable. I look closely at cases of unpredictable error (outlier bias), by triangulating with aerial and street view imagery. The sampling of cases shows that while it may be possible to conjecture about patterns in these errors, there is nothing clearly systematic. While more data and bigger models might improve the accuracy somewhat, I propose that a bias toward outliers is something fundamental to machine learning models which gravitate to the mean and require unbiased and not missing data. I conclude by arguing that universal design or design for the outliers is imperative for justice in the smart city where algorithms and data are increasingly embedded as infrastructure.
A Study on the Relationship Between Socialization of Blended Learning and Motivation Regulation Under Sustainable Development With Teacher Support as the Moderating Variable
Authors: Huang Lin , Lee Meng-Hsiu
Published: October 2023

Since the outbreak of the COVID-19 pandemic, social media are used frequently in the process of teaching and learning interaction, which not only endows learning with sociality, but also poses challenges to students’ autonomous learning behavior. To identify the influencing factors of motivation regulation in blended learning environments, we need to pay more attention needs to the mechanisms and strategies that support students’ long-term interests. The results revealed that social interaction and perceived playfulness are important factors affecting students’ motivation regulation, and teachers’ support of autonomy, emotion, and ability play a regulatory role. The results present internal and external driving forces of students’ motivation regulation, which are useful for educators to understand the plasticity of motivation and the inequality of learning achievements of specific student groups. Therefore, teachers are required to play a more supportive role in the social learning environment based on game thinking and interactive design to enhance students’ learning motivation.
Do Foreign Fund Flows Influence the Stock Market Index? Evidence From Indonesia
Authors: Danila Nevi , Bunyamin  , Djalaluddin Ahmad , Fathony Yudha
Published: October 2023

This paper investigates the impact of foreign fund’ flow on the Indonesian stock index incorporating other variables, namely the international stock market, gold price, foreign exchange rate, and the oil price. GJR-GARCH (1,1) model is used to analyze daily time-series data on IDX, foreign fund flows, the S&P 500, and gold, currency, and oil prices from 2014 to 2019. There is an evidence of leverage effect. It means that there is an asymmetric news impact on the conditional variances. Currency and oil prices are the only variables to have an impact on the Indonesian stock market index, while the rest of the variables do not influence the index. The government may provide infrastructures to attract foreign investors. At the same time, the government has to issue the policy that will protect the economy from stock market shocks. Finally, investors may include gold in their portfolio to diversify their investments.

JEL Classification: G120, G10, G40
The Unloading Effect of Supramalleolar Versus Sliding Calcaneal Osteotomy for Treatment of Osteochondral Lesions of the Medial Talus: A Biomechanical Study
Authors: Flury Andreas , Hodel Sandro , Ongini Esteban , Trache Tudor , Hasler Julian , Wirth Stephan H. , Viehöfer Arnd F. , Imhoff Florian B.
Published: October 2023

Background:

In patients with osteochondral lesion, defects of the medial talus, or failed cartilage surgery, a periarticular osteotomy can unload the medial compartment.

Purpose:

To compare the effects of supramalleolar osteotomy (SMOT) versus sliding calcaneal osteotomy (SCO) for pressure redistribution and unloading of the medial ankle joint in normal, varus-aligned, and valgus-aligned distal tibiae.

Study Design:

Controlled laboratory study.

Methods:

Included were 8 cadaveric lower legs with verified neutral ankle alignment (lateral distal tibial angle [LDTA] = 0°) and hindfoot valgus within normal range (0°-10°). SMOT was performed to modify LDTA between 5° valgus, neutral, and 5° varus. In addition, a 10-mm lateral SCO was performed and tested in each position in random order. Axial loading (700 N) of the tibia was applied with the foot in neutral alignment in a customized testing frame. Pressure distribution in the ankle joint and subtalar joint, center of force, and contact area were recorded using high-resolution Tekscan pressure sensors.

Results:

At neutral tibial alignment, SCO unloaded the medial joint by a mean of 10% ± 10% or 66 ± 51 N ( P = .04) compared with 6% ± 12% or 55 ± 72 N with SMOT to 5° valgus ( P = .12). The achieved deload was not significantly different (ns) between techniques. In ankles with 5° varus alignment at baseline, SMOT to correct LDTA to neutral insufficiently addressed pressure redistribution and increased medial load by 6% ± 9% or 34 ± 33 N (ns). LDTA correction to 5° valgus (10° SMOT) unloaded the medial joint by 0.4% ± 14% or 20 ± 75 N (ns) compared with 9% ± 11% or 36 ± 45 N with SCO (ns). SCO was significantly superior to 5° SMOT ( P = .017) but not 10° SMOT. The subtalar joint was affected by both SCO and SMOT, where SCO unloaded but SMOT loaded the medial side.

Conclusion:

SCO reliably unloaded the medial compartment of the ankle joint for a neutral tibial axis. Changes in the LDTA by SMOT did not positively affect load distribution, especially in varus alignment. The subtalar joint was affected by SCO and SMOT in opposite ways, which should be considered in the treatment algorithm.

Clinical Relevance:

SCO may be considered a reliable option for beneficial load-shifting in ankles with neutral alignment or 5° varus malalignment.
Similarity and difference in machining at mixed scales using nanostructured coated tools milling hypoeutectoid carbon steel
Authors: Jackson M. J. , Robinson G. M. , Whitfield M. D. , Whitt M. D. , da Silva R. B. , da Silva M. B.
Published: October 2023

There are similarities and differences when machining at the microscale and macroscale. One difference is the lack of significant heat generated at the microscale, which means that thermal barrier coatings are largely redundant. However, the mechanisms of wear are similar and different depending on machining parameters. In this study, it is discovered that nanostructured coatings play different roles at mixed scales, which are experimentally determined by measuring tool wear, chemical diffusion, temperature, and forces. The main findings show that macroscale wear is thermal in nature and that microscale wear is primarily tribological. The principal conclusions focus on redesigning microtools and nanostructured coatings to eliminate wear, developing standards that describe the action of microtools, and understanding how to calculate the minimum chip thickness that guarantees the formation of chips rather than burrs.
Genomic and metabolomic insights into the antimicrobial compounds and plant growth-promoting potential of Bacillus velezensis Q-426
Authors: Wang Lulu , Fan Ruochen , Ma Haodi , Sun Yu , Huang Yangzhu , Wang Yuxin , Guo Qinfeng , Ren Xinxiu , Xu Lukai , Zhao Jing , Zhang Liying , Xu Yongbin , Jin Liming , Dong Yuesheng , Quan Chunshan
Published: October 2023

Background

The Q-426 strain isolated from compost samples has excellent antifungal activities against a variety of plant pathogens. However, the complete genome of Q-426 is still unclear, which limits the potential application of Q-426.

Results

Genome sequencing revealed that Q-426 contains a single circular chromosome 4,086,827 bp in length, with 4691 coding sequences and an average GC content of 46.3%. The Q-426 strain has a high degree of collinearity with B. velezensis FZB42, B. velezensis SQR9, and B. amyloliquefaciens DSM7, and the strain was reidentified as B. velezensis Q-426 based on the homology analysis results. Many genes in the Q-426 genome have plant growth-promoting activity, including the secondary metabolites of lipopeptides. Genome mining revealed 14 clusters and 732 genes encoding secondary metabolites with predicted functions, including the surfactin, iturin, and fengycin families. In addition, twelve lipopeptides (surfactin, iturin and fengycin) were successfully detected from the fermentation broth of B. velezensis Q-426 by ultra-high performance liquid chromatography-quadrupole time-of-flight mass spectrometry (UHPLC–QTOF–MS/MS), which is consistent with the genome analysis results. We found that Q-426 produced indole-3-acetic acid (IAA) at 1.56 mg/l on the third day of incubation, which might promote the growth of plants. Moreover, we identified eighteen volatile compounds (VOCs, including 2-heptanone, 6-methylheptan-2-one, 5-methylheptan-2-one, 2-nonanone, 2-decanone, 2-undecanone, 2-dodecanone, 2-tridecanone, 2-tetradecanone, 2-nonadecanone, pentadecanoic acid, oleic acid, dethyl phthalate, dibutyl phthalate, methyl (9E,12E)-octadeca-9,12-dienoate), pentadecane, (6E,10E)-1,2,3,4,4a,5,8,9,12,12a-decahydro-1,4-methanobenzo[10]annulene, and nonanal) based on gas chromatograph-mass spectrometer (GC/MS) results.

Conclusions

We mined secondary metabolite-related genes from the genome based on whole-genome sequence results. Our study laid the theoretical foundation for the development of secondary metabolites and the application of B. velezensis Q-426. Our findings provide insights into the genetic characteristics responsible for the bioactivities and potential application of B. velezensis Q-426 as a plant growth-promoting strain in ecological agriculture.
The digestive system and autoimmunity
Authors: Sun Lina , Zhang Baojun
Published: October 2023

Digestive autoimmune conditions are a growing challenge to global health. Risk factors associated with autoimmune digestive diseases are complex, including genetic variation, immunological dysfunction, and various environmental factors. To improve our understanding of the mechanisms behind digestive autoimmune conditions, including factors causing gastrointestinal manifestations and pathogenesis, BMC Immunology has launched a new Collection “The digestive system and autoimmunity”.
Effect of cardiac function in patients with gastrointestinal cancer with or without acute kidney injury assessed using a non-invasive impedance cardiography: a case-control study
Authors: Chen Huihui , Zhang Guolei , He Lei , Zhou Wei , Zhang Shenglei , Niu Zhe zhe , Jin Jingjing , juan Cheng Mei , Guo Liping , Liang Xiang nan , Zhu Rong fang , Zhang Huiran , Bai Yaling , Xu Jin sheng
Published: October 2023

Objectives

This study aimed to analyze the possible causes of changes in cardiac function and investigate the feasibility of clinical assessment of gastrointestinal cancer in patients with or without acute kidney injury (AKI) assessed using a non-invasive impedance cardiography (ICG, Bioz. Cardio Dynamics, USA) to identify independent risk factors.

Methods

Patients admitted to the Fourth Hospital of Hebei Medical University, China, between May 1, 2019, and February 15, 2022, were included in this study. A total of 51 patients with gastrointestinal cancer (31 men and 20 women, mean age 61.1 ± 10.9 years) with or without AKI were evaluated for ICG. A total of 19 patients underwent ultrasound cardiography (UCG) and ICG evaluations.

Result

There was a significant positive correlation between cardiac output (CO), cardiac index (CI), stroke volume (SV), left cardiac work index (LCWI), and ejection fraction (EF) measured using UCG and ICG. The relationship was observed between COICG and COUCG (r = 0.707, P = 0.001), CIICG and CIUCG (r = 0.718, P = 0.001), SVICG and SVUCG (r = 0.837, P < 0.001), and LCWIICG and EFUCG (r = 0.540, P = 0.017). Cardiac function parameters measured using ICG were statistically different between patients with gastrointestinal cancer with or without AKI (P ≤ 0.05). Multivariate analysis revealed that AKI independently affects cardiac function in patients with gastrointestinal cancer.

Conclusions

UCG and ICG methods are significantly associated with cardiac function in patients with or without AKI, and patients with gastrointestinal cancer with AKI are worse than those without AKI. AKI is an independent risk factor for cardiac function in patients with gastrointestinal cancer.
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
Authors: Naderi Niloofar , Mohsen-Pour Neda , Nilipour Yalda , Pourirahim Maryam , Maleki Majid , Kalayinia Samira
Published: October 2023

Background

The MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skeletal myopathies or a combination of both, depending on the affected region. In this study, we performed clinical and molecular examinations of the proband of an Iranian family with MSM in an autosomal dominant condition exhibiting proximal muscle weakness and dilated cardiomyopathy.

Methods

Following thorough clinical and paraclinical examinations, whole-exome sequencing `was performed on the proband (II-5). Pathogenicity prediction of the candidate variant was performed through in-silico analysis. Co-segregation analysis of the WES data among the family members was carried out by PCR-based Sanger sequencing.

Results

A novel heterozygous missense variant, MYH7 (NM_000257): c.C1888A: p.Pro630Thr, was found in the DNA of the proband and his children and confirmed by Sanger sequencing. The in-silico analysis revealed that p.Pro630Thr substitution was deleterious. The novel sequence variant fell within a highly conserved region of the head domain. Our findings expand the spectrum of MYH7 mutations.

Conclusions

This finding could improve genetic counseling and prenatal diagnosis in families with clinical manifestations associated with MYH7-related myopathy.
Teledermatology in an emergency department: benefits and gaps
Authors: Santosa Adinia , Li Zisheng , Chandran Nisha Suyien
Published: October 2023

Background

Teledermatology has provided new avenues through which dermatologists can provide healthcare. Teledermatology was introduced to the Emergency Department (ED) to enable immediate dermatological consult. We aimed to assess the impact of teledermatology on the management of dermatological conditions by emergency medicine physicians and subsequent health resource utilization.

Methods

We conducted a retrospective review of teledermatology referrals from the ED of our tertiary hospital in Singapore from June 2015 to December 2019. The dermatological conditions, the triaging and treatment recommendations were analyzed. Follow-up plans were recorded.

Results

Between June 2015 and December 2019, 147 patients were referred from the ED via teledermatology; 11 (7.5%) were admitted, and 136 (92.5%) were recommended to be discharged with a dermatological diagnosis and management plan. If required, a follow-up appointment in the dermatology specialist clinic was arranged. Of the 136 patients who were discharged, 129 (94.9%) patients were provided with outpatient appointment in the dermatology clinic, out of which 110 patients returned for follow-up. 90 (81.8%) patients retained the initial teledermatology diagnoses and 20 (18.2%) patients had their teledermatology diagnoses revised after in-person review.

Conclusions

Teledermatology allows for more efficient triaging of patients with dermatological conditions. Reliability between teledermatology and clinic-based examination is good. Patients may be managed mainly in the outpatient setting with appropriate specialty-directed treatment, return advice, and appropriately-triaged follow-up outpatient appointment.
Modeling homophily in dynamic networks with application to HIV molecular surveillance
Authors: DeGruttola Victor , Nakazawa Masato , Lin Tuo , Liu Jinyuan , Goyal Ravi , Little Susan , Tu Xin , Mehta Sanjay
Published: October 2023

Background

Efforts to control the HIV epidemic can benefit from knowledge of the relationships between the characteristics of people who have transmitted HIV and those who became infected by them. Investigation of this relationship is facilitated by the use of HIV genetic linkage analyses, which allows inference about possible transmission events among people with HIV infection. Two persons with HIV (PWH) are considered linked if the genetic distance between their HIV sequences is less than a given threshold, which implies proximity in a transmission network. The tendency of pairs of nodes (in our case PWH) that share (or differ in) certain attributes to be linked is denoted homophily. Below, we describe a novel approach to modeling homophily with application to analyses of HIV viral genetic sequences from clinical series of participants followed in San Diego. Over the 22-year period of follow-up, increases in cluster size results from HIV transmissions to new people from those already in the cluster–either directly or through intermediaries.

Methods

Our analytical approach makes use of a logistic model to describe homophily with regard to demographic, clinical, and behavioral characteristics–that is we investigate whether similarities (or differences) between PWH in these characteristics are associated with their sequences being linked. To investigate the performance of our methods, we conducted on a simulation study for which data sets were generated in a way that reproduced the structure of the observed database.

Results

Our results demonstrated strong positive homophily associated with hispanic ethnicity, and strong negative homophily, with birth year difference. The second result implies that the larger the difference between the age of a newly-infected PWH and the average age for an available cluster, the lower the odds of a newly infected person joining that cluster. We did not observe homophily associated with prior diagnosis of sexually transmitted diseases. Our simulation studies demonstrated the validity of our approach for modeling homophily, by showing that the estimates it produced matched the specified values of the statistical network generating model.

Conclusions

Our novel methods provide a simple and flexible statistical network-based approach for modeling the growth of viral (or other microbial) genetic clusters from linkage to new infections based on genetic distance.
Design of the STEPS trial: a phase II randomized controlled trial evaluating eHealth-supported motor-cognitive home training for Parkinson’s disease
Authors: Leavy Breiffni , Sedhed Jenny , Kalbe Elke , Åkesson Elisabet , Franzén Erika , Johansson Hanna
Published: October 2023

Background

Electronic health (eHealth) technology offers the potential to support and motivate physical activity for symptom management in Parkinson’s disease (PD). It is also recommended that motor exercise in PD be complemented with cognitive training aimed at attentional or executive functions. This paper describes the protocol for a double-blind randomized controlled trial to evaluate the effects of motor-cognitive training in the home environment, supported by eHealth.

Methods/design

The Support for home Training using Ehealth in Parkinsons diseaSe (STEPS) is a double-blind single center randomized controlled trial. Two parallel groups will include in total 120 participants with mild to moderate PD who will receive either (i) the intervention (a progressive 10-week individualized motor-cognitive eHealth training with cognitive behavioral elements to increase physical activity levels) or (ii) an active control group (an individualized 10-week paper-based home exercise program). The active control group will not receive motor-cognitive exercises or cognitive behavioral approaches to increase physical activity level. The primary outcome is walking capacity assessed by the six-minute walk test (6MWT). Secondary outcomes will include gait performance during single and dual task conditions, gait speed, functional mobility and lower limb strength, balance, physical activity behavior and a range of patient reported outcome measures relevant in PD.

Discussion

The STEPS trial will answer the question whether 10 weeks of eHealth supported motor-cognitive exercise in the home environment can improve walking capacity in PD when compared to a standard paper exercise program. Findings from this study will also strengthen the evidence concerning the efficacy of PD-specific eHealth interventions with a view meeting future health care demands by addressing issues of inaccessibility to specialized neurological rehabilitation in PD.

Trial registration

ClinicalTrials.gov August 2022, NCT 05510739.
Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report
Authors: Chen Xi , Zhang Piao , Wang Lijuan , Zhang Yuhu
Published: October 2023

Background

Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely elucidated. This study reports two novel heterozygous VPS13A pathogenic variants in ChAc that expand the variant spectrum of VPS13A.

Case presentation

We described a case of a 29-year-old man with typical clinical manifestations of ChAc, including chorea, orofacial lingual dyskinesia, vocal tics, elevated serum biochemical indicators, increased acanthocytes in peripheral blood, and caudate nucleus atrophy. Next-generation sequencing revealed two heterozygous variants of VPS13A: a nonsense variant (NM_033305.2: c.8215G > T, p. Glu2739Ter) and a deletion variant in the exons 25–31.

Conclusion

The identified nonsense variant gives rise to premature translation termination, while the deletion variant is expected to cause a significant in-frame deletion of amino acid residues in the encoded protein. Both variants are considered to be pathogenic and result in loss-of-function proteins. These findings have implications for the genetic counseling of patients with VPS13A variants.
Comparing body image dissatisfaction between pregnant women and non-pregnant women: a systematic review and meta-analysis
Authors: Crossland Anna Elizabeth , Munns Lydia , Kirk Elizabeth , Preston Catherine Elizabeth Jane
Published: October 2023

Body image dissatisfaction refers to negative thoughts and feelings individuals have towards their own body appearance and this is thought to be affected by the physiological changes that occur during pregnancy. There are two main conflicting theories as to the effect pregnancy has on body image dissatisfaction: 1) Pregnancy related changes are in direct conflict with social ideas of female beauty (e.g. weight gain) and so increase body image dissatisfaction; 2) Due to changes in expectations of bodily appearance during pregnancy, women are liberated from social ideals at this time and thus body image dissatisfaction would decrease. This study aimed to assess these theories by synthesising the current literature. Six databases were searched, and 2,017 study abstracts were screened based on strict inclusion and exclusion criteria. Following screening and quality assessment by two blind reviewers, 17 studies (comprising 17 effect sizes) were subject to full review and meta-analysis following PRISMA guidelines. These studies included cross-sectional, longitudinal and retrospective designs. Results varied with some studies showing women to feel more positive about their body during pregnancy, others showing a more negative body experience and yet others showing no statistical difference. Overall the analysis showed no statistical difference in body image dissatisfaction between pregnant women and non-pregnant women (p = 0.39). Any changes that do occur are heterogeneous and likely to be largely dependent on the individual experience as well as moderator variables and other factors such as differences in methodology of research studies. Studies in this field of research would benefit from more explicit and complete reporting of data and key variables, in order to allow early intervention for women who display body image dissatisfaction in pregnancy.
Individual differences in the expansiveness of mental disorder concepts: development and validation of concept breadth scales
Authors: Tse Jesse S. Y. , Haslam Nick
Published: October 2023

Background

What people consider to be a mental disorder is likely to influence how they perceive others who are experiencing problems and whether they seek help for their own problems. However, no measure is available to assess individual differences in the expansiveness or breadth of concepts of mental disorder. Four studies aimed to develop and validate two such measures. The Concept Breadth-Vertical (CB-V) scale assesses variability in the severity threshold at which unusual behavior or experience is judged to reflect disorder, whereas the Concept Breadth-Horizontal (CB-H) scale assesses variability in the range of phenomena judged to be disorders.

Methods

In a pilot study (N = 201) for the CB-V, participants read vignettes of varying severity for each of the 10 mental disorders, and rated whether the subject had a disorder. Study 1 (N = 502) used exploratory factor analyses to examine 10 CB-V items from the pilot study and 20 vignette-based items for constructing the CB-H. Study 2 (N = 298) employed confirmatory factor analysis to validate the scales’ structure and examined their convergent validity with a measure of harm concept breadth and their discriminant validity with measures of mental health literacy. Study 3 (N = 298) explored associations of the scales with other mental health variables, including stigma and help-seeking attitudes.

Results

Study 1 supported the unifactorial structure of each item set, refined each set into a scale, and demonstrated acceptable reliabilities. Study 2 provided support for the scales’ convergent and discriminant validities. Study 3 showed that the scales were associated negatively with stigma, and positively with help-seeking attitudes and self-reported mental health problems. Studies 2 and 3 further indicated that younger and more politically liberal participants hold broader concepts of mental disorder.

Conclusions

The new concept breadth scales are psychometrically sound measures of a promising new concept in the study of beliefs and attitudes about mental health. Potential future research directions are discussed.
Correlates of poor self-rated health among school-going adolescent girls in urban Varanasi, India
Authors: Patel Ratna , Bansod Dhananjay W.
Published: October 2023

Background

The concept of self-rated health (SRH) has widely been studied among the adults and older population in developed as well as developing countries, including India. Also, studies are available in abundance examining the various concepts of SRH among adolescents. However, in India, studies on the SRH of adolescents remain scarce, especially those aiming to understand the correlates of SRH among school-going adolescent girls in an urban setting. Therefore, this study aims to determine the correlates of poor SRH among school-going adolescent girls in the urban setting of Varanasi, India.

Methods

This study is based on the primary data collected in the Varanasi district of Uttar Pradesh, India, from October 2019 to February 2020. Nearly 350 adolescent girls and their mothers were personally interviewed. Self-rated health was the primary outcome variable of this study. The exact wording of the question asked from the adolescent girls was, “In general, how would you say your health is?”.

Results

Almost one-fifth (19.4%) of the adolescent girls reported poor SRH. Adolescent girls from Other Backward Class (OBC) [OR: 0.39; 95% CI: .18-.85] and Others caste [OR: 0.58; 95% CI: .23–0.87] were less likely to report poor SRH than their Scheduled Caste/Scheduled Tribe (SC/ST) counterparts. Girls residing in households where number of daughters were more than sons were more likely to report poor SRH [OR: 7.8; 95% CI: 1.5–39.5] than girls who belonged to the daughters only households.

Conclusion

Composition of children was one of the important factors as outlined in this study. The role of mothers in improving the overall SRH of the girls is critical as they are involved in caring process of their daughters.
Global burden of lower respiratory infections attributable to secondhand smoke among children under 5 years of age, 2010–2019: a systematic analysis of the global burden of disease study 2019
Authors: Xiang Saina , Chen Zhiyuan , Dai Zebin , Wang Fan
Published: October 2023

Background

Epidemiological trends of lower respiratory infections (LRIs) attributable to secondhand smoke (SHS) among children under 5 years since smoking bans have been increasingly applied globally remain unclear. Here, we aimed to estimate the spatiotemporal trends of the global, regional, and national burden of LRIs attributable to SHS among children under 5 years old between 2010 and 2019.

Methods

Data on the deaths, and disability adjusted life years (DALYs) of the disease burden was retrieved from the Global Burden of Disease (GBD) 2019 for 204 countries and territories between 2010 and 2019. The rates per 100,000 population, along with 95% uncertainty intervals, as well as population-attributable fraction (PAF) was presented for each estimate.

Results

In 2019, an estimated 6.94% (3.80–10.12%) of under-5 LRIs deaths were attributable to SHS globally, with an under-5 mortality rate of 7.02 per 100,000, a decrease of 5.77% since 2010. Similarly, 6.95% (3.81–10.13%) of LRIs DALYs were due to SHS among children under 5 years, with a rate in under-5s of 619.36 DALYs per 100,000, and also a 5.77% decrease since 2010. Azerbaijan, Turkmenistan, and Papua New Guinea showed the highest under-5 mortality and DALYs burden rates of LRIs attributable to SHS in 2019. In contrast, the PAF was stagnant over the past ten years and there is even a year-on-year upward trend in South Asia. Nationally, in 2019, Bosnia and Herzegovina, Armenia, and Montenegro showed the highest PAFSHS of LRIs burden among children under 5 years of age. In addition, the burden was heavier in children under 1 year of age and was significantly negatively associated with sociodemographic index.

Conclusions

SHS remains a risk factor that cannot be ignored for LRIs burden worldwide. Hence, governments and health systems should continue to take steps to reduce SHS pollution among young children to mitigate this burden.