bluuebunny/crossref_metadata_2025 huggingface dataset:
A Variable-Order Fractional Constitutive Model to Characterize the Rate-Dependent Mechanical Behavior of Soft Materials
Authors: Gao Yunfei , Yin Deshun , Zhao Bin
Published: October 2022

Building an accurate constitutive model for soft materials is essential for better understanding its rate-dependent deformation characteristics and improving the design of soft material devices. To establish a concise constitutive model with few parameters and clear physical meaning, a variable-order fractional model is proposed to accurately describe and predict the rate-dependent mechanical behavior of soft materials. In this work, the discrete variable-order fractional operator enables the predicted stress response to be entirely consistent with the whole stress history and the fractional order’s path-dependent values. The proposed model is further implemented in a numerical form and applied to predict several typical soft materials’ tensile and compressive deformation behavior. Our research indicates that the proposed variable-order fractional constitutive model is capable of predicting the nonlinear rate-dependent mechanical behavior of soft materials with high accuracy and more convinced reliability in comparison with the existing fractional models, where the fractional order contains a constant initial order to depict the initial elastic response and a linear variable-order function to account for the strain hardening behavior after acrossing the yield point.
ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Authors: Christen Matthias , Bongers Jos , Mathis Déborah , Jagannathan Vidhya , Quintana Rodrigo Gutierrez , Leeb Tosso
Published: October 2022

A 3-year-old, male neutered Cavalier King Charles Spaniel (CKCS) presented with complex focal seizures and prolonged lethargy. The aim of the study was to investigate the clinical signs, metabolic changes and underlying genetic defect. Blood and urine organic acid analysis revealed increased medium-chain fatty acids and together with the clinical findings suggested a diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. We sequenced the genome of the affected dog and compared the data to 923 control genomes of different dog breeds. The ACADM gene encoding MCAD was considered the top functional candidate gene. The genetic analysis revealed a single homozygous private protein-changing variant in ACADM in the affected dog. This variant, XM_038541645.1:c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG, introduces a premature stop codon and is predicted to result in truncation of ~63% of the wild type MCAD open reading frame, XP_038397573.1:p.(Thr150Ilefs*6). Targeted genotyping of the variant in 162 additional CKCS revealed a variant allele frequency of 23.5% and twelve additional homozygous mutant dogs. The acylcarnitine C8/C12 ratio was elevated ~43.3 fold in homozygous mutant dogs as compared to homozygous wild type dogs. Based on available clinical and biochemical data together with current knowledge in humans, we propose the ACADM frameshift variant as causative variant for the MCAD deficiency with likely contribution to the neurological phenotype in the index case. Testing the CKCS breeding population for the identified ACADM variant is recommended to prevent the unintentional breeding of dogs with MCAD deficiency. Further prospective studies are warranted to assess the clinical consequences of this enzyme defect.
Dynamic Network Biomarker Analysis Reveals the Critical Phase Transition of Fruit Ripening in Grapevine
Authors: Wang Tengfei , Peng Huixiang , Cao Yingying , Xu Jing , Xiong Yuhong , Liu Kangchen , Fang Jing , Liu Fang , Zhang Aidi , Zhang Xiujun
Published: October 2022

Grapevine (Vitisvinifera L.) fruit ripening is a complex biological process involving a phase transition from immature to mature. Understanding the molecular mechanism of fruit ripening is critical for grapevine fruit storage and quality improvement. However, the regulatory mechanism for the critical phase transition of fruit ripening from immature to mature in grapevine remains poorly understood. In this work, to identify the key molecular events controlling the critical phase transition of grapevine fruit ripening, we performed an integrated dynamic network analysis on time-series transcriptomic data of grapevine berry development and ripening. As a result, we identified the third time point as a critical transition point in grapevine fruit ripening, which is consistent with the onset of veraison reported in previous studies. In addition, we detected 68 genes as being key regulators involved in controlling fruit ripening. The GO (Gene Ontology) analysis showed that some of these genes participate in fruit development and seed development. This study provided dynamic network biomarkers for marking the initial transcriptional events that characterizes the transition process of fruit ripening, as well as new insights into fruit development and ripening.
Impact of Low Skeletal Muscle Mass and Obesity on Hearing Loss in Asymptomatic Individuals: A Population-Based Study
Authors: Park Chul-Hyun , Yoon Kyung Jae , Lee Yong-Taek , Jin Sung Min , Lee Sang Hyuk , Kim Tae Hwan
Published: October 2022

The relationship between low muscle mass (LMM) with obesity and hearing loss has been poorly studied. We aimed to investigate the association of LMM and obesity on hearing loss in the general population. A total of 265,792 adults who underwent a hearing test and body composition analyses were included. Pre-sarcopenia was defined as having an appendicular muscle mass index <5.7 kg/m2 for women and <7.0 kg/m2 for men, and obesity as a body mass index ≥25 kg/m2, while pre-sarcopenic obesity was defined as the co-presence of LMM and obesity. Participants were divided into four groups according to the presence of pre-sarcopenia and/or obesity. The prevalence of hearing loss was 1.8% in the control, 2.5% in the pre-sarcopenia alone, 3.0% in the obesity alone, and 6.2% in the pre-sarcopenic obesity group (p < 0.001). Hearing Thresholds were the highest in the pre-sarcopenic obesity group compared with the other three groups. In multivariable-adjusted models, the risk of hearing loss was the highest in the pre-sarcopenic obesity group (odds ratio: 1.30 [95% confidence interval: 1.10–1.56]), followed by the obesity alone (1.20 [1.12–1.28]) and pre-sarcopenia alone (1.19 [1.06–1.34]) group compared with the control group (p < 0.001). Pre-sarcopenic obesity was independently associated with a higher prevalence of hearing loss, supporting pre-sarcopenic obesity itself as a risk for the decline in hearing function.
Phenotyping Olive Cultivars for Drought Tolerance Using Leaf Macro-Characteristics
Authors: Razouk Rachid , Hssaini Lahcen , Alghoum Mohamed , Adiba Atman , Hamdani Anas
Published: October 2022

This work investigates the relationships between leaf traits and olive response to water stress through two complementary field experiments in order to screen genotypes for drought tolerance. The first experiment consisted of the phenotyping of 32 olive varieties for 11 leaf morpho-physiological traits during a fruit set phase under well-watered conditions. In the second experiment, the yield and vegetative responses of five representative varieties to the withholding of irrigation during the whole fruit growth period were assessed to identify leaf traits that are associated with olive resilience plasticity and that could be used as drought tolerance markers. The results highlighted large phenotypic variability for leaf area (LA, 2.9–9.5 cm2), petiole elasticity (8.0–36.0°), water loss in detached leaves (WLDL, 3.6–11.6%), stomatal density (222.6–470.1 no mm−2), stomatal length (11.4–18.7 µm), trichome density (120.5–204.4 no mm−2), trichome width (103.6–183.4 µm), leaf contents in cuticular wax (CWC, 44.7–606.2 µg cm−2), and soluble sugars (SSC, 15.8–536.9 mg gdw−1). Among these leaf traits, WLDL displayed a significant correlation with the yield stability index (r = −0.973) and water use efficiency (r = −0.939), suggesting its use as relevant drought tolerance phenotypic marker. Likewise, LA, SSC, and CWC were singled out as second-level drought tolerance markers, being strongly correlated with stability of leaf size and leafing intensity in response to water stress. Cluster analysis highlighted 12 distinct levels of drought tolerance within the studied olive collection. Based on the four identified phenotypic markers, “Lechin de Sevilla” alongside “Picholine Marocaine” were found to be the most drought-tolerant varieties, while Frantoio was the most sensitive. This study provides the first, unprecedented, insights into the usefulness of leaf phenotyping in olive drought tolerance screening, with a focus on structural and functional leaf traits.
Left Ventricular, Left Atrial and Right Ventricular Strain Modifications after Maximal Exercise in Elite Ski-Mountaineering Athletes: A Feasibility Speckle Tracking Study
Authors: Zimmermann Paul , Eckstein Max L. , Moser Othmar , Schöffl Isabelle , Zimmermann Lukas , Schöffl Volker
Published: October 2022

Eleven world elite ski-mountaineering (Ski-Mo) athletes were evaluated for pronounced echocardiographic physiological remodeling as the primary aim of our feasibility speckle tracking study. In this context, sports-related cardiac remodeling was analyzed by performing two-dimensional echocardiography, including speckle tracking analysis of the left atrium (LA), right ventricle (RV) and left ventricular (LV) global longitudinal strain (LV-GLS) at rest and post-peak performance. The feasibility echocardiographic speckle tracking analysis was performed on eleven elite Ski-Mo athletes, which were obtained in 2022 during the annual medical examination. The obtained data of the professional Ski-Mo athletes (11 athletes, age: 18–26 years) were compared for different echocardiographic parameters at rest and post-exercise. Significant differences were found for LV-GLS mean (p = 0.0036) and phasic LA conduit strain pattern at rest and post-exercise (p = 0.0033). Furthermore, negative correlation between LV mass and LV-GLS (p = 0.0195, r = −0.69) and LV mass Index and LV-GLS (p = 0.0253, r = −0.66) at rest were elucidated. This descriptive reporting provided, for the first time, a sport-specific dynamic remodeling of an entire elite national team of the Ski-Mo athlete’s left heart and elucidated differences in the dynamic deformation pattern of the left heart.
The Role of Parenting, Dysregulation and Self-Esteem in Adolescents’ Problematic Social Network Site Use: A Test of Parallel and Serial Mediation Models in a Healthy Community Sample
Authors: Costantini Alessandro , Semeraro Cristina , Musso Pasquale , Cassibba Rosalinda , Coppola Gabrielle
Published: October 2022

The study addresses some gaps in the current understanding of adolescents’ Problematic Social Network Site Use (PSNSU) by exploring the role of parenting as a precursor, and dysregulation and self-esteem as possible mediators. The sample includes 148 parents (15% fathers) and their adolescent offspring (23% male, age ranging from 14 to 18 years old, M = 15.96, SD = 1.36). Parent-reported dysregulation and positive/negative parenting style and adolescent-reported PSNSU and self-esteem were collected. As to positive parenting, simple parallel mediations were fully supported: positive parenting was associated with less dysregulation and higher self-esteem and both conditions independently predicted adolescents’ PSNSU. Additionally, a serial mediation model was confirmed, suggesting that positive parenting is associated with less PSNSU by means of the sequential effect of dysregulation on self-esteem. As to negative parenting, results only support one simple mediation: negative parenting predicted PSNSU through dysregulation. Self-esteem was not impacted by negative parenting, interrupting the indirect pathways. The direct effect of negative parenting on PSNSU was significant, suggesting a partial mediation. Findings deepen the current understanding of teens’ PSNSU and highlight the importance of targeting parenting when implementing interventions to prevent and treat PSNSU.
Economic Burden of SARS-CoV-2 Patients with Multi-Morbidity: A Systematic Review Protocol
Authors: Azzeri Amirah , Ramlee Mohd , Noor Mohd , Jaafar Mohd , Rochmah Thinni , Dahlui Maznah
Published: October 2022

Economic burden issues in SARS-CoV-2 patients with underlying co-morbidities are enormous resources for patient treatment and management. The uncertainty costs for clinical management render the healthcare system catatonic and incurs deficits in national annual budgets. This article focuses on systematic steps towards selecting and evaluating literature to uncover gaps and ways to help healthcare stakeholders optimize resources in treating and managing COVID-19 patients with multi-morbidity. A systematic review of all COVID-19 treatment procedures with co-morbidities or multi-morbidity for the period from 2019 to 2022 was conducted. The search includes studies describing treatment costs associated with multi- or co-morbidity cases for infected patients and, if concurrently reported, determining recurring expenses. Study selection will follow the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Galbraith plots and I2 statistics will be deployed to assess heterogeneity and to identify potential sources. A backward elimination process will be applied in the regression modelling procedure. Based on the number of studies retrieved and their sample size, the subgroup analysis will be stratified on participant disease category, associated total costs, and degree of freedom in cost estimation. These studies were registered in the PROSPERO registry (ID: CRD42022323071).
How Do Religiosity and Spirituality Associate with Health-Related Outcomes of Adolescents with Chronic Illnesses? A Scoping Review
Authors: Iannello Nicolò M. , Inguglia Cristiano , Silletti Fabiola , Albiero Paolo , Cassibba Rosalinda , Lo Coco Alida , Musso Pasquale
Published: October 2022

The aim of the current scoping review was to explore the associations between religious and spiritual factors and the health-related outcomes of adolescents with chronic illnesses, as well as to investigate possible mechanisms accounting for these relationships. In total, 20 studies meeting the eligibility criteria were reviewed after performing a search of the Scopus, Web of Science, and PubMed databases. The results suggested that religious and spiritual beliefs, thoughts, and practices (e.g., spiritual coping activities) might have both beneficial and deleterious effects on the way adolescents deal with their medical condition, on their psychosocial adjustment, on their mental and physical health, and on their adherence to treatments. Mediating and moderating mechanisms explaining these relations were also evidenced. Suggestions for future research and practical implications for healthcare professionals are provided in the concluding section of this work.
The Protective Role of Resilience in the Development of Social Media Addiction in Tertiary Students and Psychometric Properties of the Slovenian Bergen Social Media Addiction Scale (BSMAS)
Authors: Žmavc Mark , Šorgo Andrej , Gabrovec Branko , Crnkovič Nuša , Cesar Katarina , Selak Špela
Published: October 2022

With the onset of the COVID-19 pandemic, social media became one of the most utilized sources of information relating to the disease. With the increased reliance on social media, the risk of excessive use and the development of social media addiction emerges. The aim of the present study was to explore the psychometric properties of the Slovenian version of the Bergen Social Media Addiction Scale, and to explore how psychological resilience affects social media addiction symptoms directly and indirectly through symptoms of depression, anxiety and mental distress. A large online cross-sectional study was conducted in March 2021 among Slovenian tertiary students (N = 4868). The results showed the high reliability, unidimensionality and criterion validity of the Slovenian Bergen Social Media Addiction Scale. The proposed structural model fit the data well and showed a significant direct positive effect of depression and stress on social media addiction. Moreover, the majority of the negative effects of psychological resilience on social media addiction (87.2%) were indirect, through depression and stress symptoms, whereas resilience had a significantly smaller impact on social media addiction by reducing anxiety symptoms. The overall prevalence of social media addiction symptoms was 4.6%, with females exhibiting higher proportions than men. Additionally, female social media users reported a complete absence of social media addiction symptoms less often compared to males. Future research should further explore the mechanisms behind social media addiction, in order to gain a better understanding of the apparently different risk levels for both genders.
Transferring Healthcare Professional’s Digital Competencies to the Workplace and Patients: A Pilot Study
Authors: Navarro Martínez Olga , Igual García Jorge , Traver Salcedo Vicente
Published: October 2022

The new times, marked by immediacy, globalization, and technological advances, has forced health professionals to develop new competencies to adapt to the new challenges. However, necessary skills such as using digital tools are primarily ignored by institutions, hospitals, and universities, forcing professionals to undertake training in these areas independently. This research aims to analyse if there is a transfer of what has been learned in the digital healthcare field to their professional practice and patients. To perform the study, 104 healthcare professionals, mostly nurses, who had completed online training in digital competencies answered a questionnaire with 17 questions. These questions were related to the transfer of learning to professional practice and its use for developing patient resources. Almost 60% of the professionals said that they have used what they learned in the course in their professional work, but only 16% of the participants use it daily. The main barrier to not having applied what was learned during the course, according to participants, was the situation experienced during the COVID-19 pandemic, followed by a lack of time and lack of resources. Only 23 people out of 104 developed patient resources after the course; the most created were infographics and videos. In addition, 38 people used what they learned to improve their personal productivity: searches, storage, calendars, etc. Only 11 used it for research purposes. People between 31 and 40 years old create the most patient resources and use what they learn most frequently. There is a need to improve e-learning to provide quality training that can transfer good behaviour to professional practice in the health field.
Physical Activity and Body Image Perception in Adolescents: A Systematic Review
Authors: Gualdi-Russo Emanuela , Rinaldo Natascia , Zaccagni Luciana
Published: October 2022

Adolescence represents a vulnerable phase of life for psychological health. The practice of physical activity (PA) appears to have a positive influence on adolescents, increasing self-esteem and producing a more positive body image. A systematic review of published articles over the past 10 years until June 2022 was conducted according to the PRISMA statement employing the electronic databases MEDLINE and Web of Science (639 records) to summarize the literature on the relationship between body image dissatisfaction (BID) and assessed by figural scales and practice of structured and unstructured PA in adolescents (10–18 years), taking into account BMI and/or weight status. All articles were independently reviewed using inclusion/exclusion criteria, retrieved data, and assessed quality with the adapted Newcastle-Ottawa Scale for observational studies. The main finding of interest that emerged from most of the 28 included studies is the negative association between BID and PA during adolescence: as PA increases, BID decreases. However, this updated systematic review also identified some flaws in the existing literature, highlighting the need for high-quality adolescent research using validated figural scales and objective PA assessments. In conclusion, the reviewed studies showed that PA involvement can be efficacious in protecting from body image perception concerns and enhancing body satisfaction. Future interventions should promote structured and unstructured PA during adolescence to improve self-esteem and body image.
Strategies for Improving the Utilization of Preventive Care Services: Application of Importance–Performance Gap Analysis Method
Authors: Wang Ming-Jye , Lo Yi-Ting
Published: October 2022

The utilization of preventive care services is limited. Previous studies based on communities have looked at many types of barriers to preventive care (i.e., why not do). This study aimed to gain an insight into the key factors and performance gaps (i.e., why do and how to do) of people who attended a regional teaching hospital to undergo health check-ups using a purposive sampling method to recruit people to complete a self-administered questionnaire. Paired sample t-tests and importance–performance gap and regression analyses were performed. The results indicated that the participants’ wish to understand their health status, the quality of medical devices and the completeness of items, and process layout planning were the key factors that affect people’s health check-up behavior. Promoting the effectiveness of hospital performance may improve the positive cycle of people’s health check-up behavior from the community to the hospital. Continuing to promote the knowledge of preventive care services is necessary, and it is very important for people to have a good experience of undergoing health check-ups in the hospital. Important strategies for improving the utilization of preventive care services may include: meeting the person’s personalization needs, improving the quality of medical devices and the completeness of items, and having appropriate process layout planning, a detailed interpretation of the results, and further follow-ups in the hospital.
Burden of Disease Due to Ambient Particulate Matter in Germany—Explaining the Differences in the Available Estimates
Authors: Tobollik Myriam , Kienzler Sarah , Schuster Christian , Wintermeyer Dirk , Plass Dietrich
Published: October 2022

Ambient particulate matter (PM2.5) pollution is an important threat to human health. The aim of this study is to estimate the environmental burden of disease (EBD) for the German population associated with PM2.5 exposure in Germany for the years 2010 until 2018. The EBD method was used to quantify relevant indicators, e.g., disability-adjusted life years (DALYs), and the life table approach was used to estimate the reduction in life expectancy caused by long-term PM2.5 exposure. The impact of varying assumptions and input data was assessed. From 2010 to 2018 in Germany, the annual population-weighted PM2.5 concentration declined from 13.7 to 10.8 µg/m3. The estimates of annual PM2.5-attributable DALYs for all disease outcomes showed a downward trend. In 2018, the highest EBD was estimated for ischemic heart disease (101.776; 95% uncertainty interval (UI) 62,713–145,644), followed by lung cancer (60,843; 95% UI 43,380–79,379). The estimates for Germany differ from those provided by other institutions. This is mainly related to considerable differences in the input data, the use of a specific German national life expectancy and the selected relative risks. A transparent description of input data, computational steps, and assumptions is essential to explain differing results of EBD studies to improve methodological credibility and trust in the results. Furthermore, the different calculated indicators should be explained and interpreted with caution.
Validation of the Brief Perceived Positive Lockdown Impact Scale PPLIS-4
Authors: Rogowska Aleksandra M. , Ochnik Dominika , Chilicka Karolina , Pavlova Iuliia , Kuśnierz Cezary
Published: October 2022

Background: Although research showed that positive aspects of the lockdown were perceived during the pandemic, there are no tools to test the positive impact of mandatory social isolation on life. The present study aims to validate a newly developed, brief, four-item perceived positive lockdown impact scale (PPLIS-4). Methods: A cross-sectional online survey study was formed among 4370 adults in three samples: Sample 1 consisted of university students from Poland and Ukraine, Sample 2 consisted of Polish university students under 26 (emerging adults), and Sample 3 consisted of Polish and Ukrainian adults above 25 (non-emerging adults). The standardized questionnaire was used for criterion validity to measure life satisfaction (SWLS), perceived stress (PSS-10), anxiety (GAD-7), and depression (PHQ-9). Results: The exploratory factor analysis (EFA) showed a one-factor solution in Sample 1 in Polish and Ukrainian university students. The confirmatory factor analysis (CFA) and confirmatory composite analysis (CCA) showed the one-factor structure appropriate for the PPLIS-4 among emerging and non-emerging adults. Criterion validity was also confirmed since the PPLIS-4 was positively related to the SWLS and negatively related to stress, anxiety, and depression. Conclusions: The PPLIS-4 is a short but valid questionnaire to assess the positive aspects of lockdown. The PPLIS-4 can be used during the COVID-19 pandemic to measure some positive effects of changes in lifestyle as an aspect of resilience.
Predictors of Change in Stepping Stones Triple Interventions: The Relationship between Parental Adjustment, Parenting Behaviors and Child Outcomes
Authors: Sanders Matthew , Hoang Nam-Phuong T. , Hodges Julie , Sofronoff Kate , Einfeld Stewart , Tonge Bruce , Gray Kylie ,   The MHYPEDD Team
Published: October 2022

The current study explored the process of change in Stepping Stones Triple P (SSTP) using a community-based sample of 891 families of children with developmental disabilities (DD) who participated in an SSTP intervention at a community level. A preliminary analysis of outcome data indicated that SSTP intervention was effective in reducing parental adjustment difficulties, coercive parenting, and children’s behavioral and emotional difficulties immediately after the intervention. The effects were maintained at 12-month follow-up. The results also indicated that change in parental adjustment over the course of intervention was significantly associated with a change in parenting behaviors. However, change in parenting behaviors but not change in parental adjustment, predicted children’s behavioral and emotional problems following the intervention. The results suggest that positive parenting skills are the most salient ingredient driving the change in child behaviors in SSTP interventions.
Neurological Outpatients Prefer EEG Home-Monitoring over Inpatient Monitoring—An Analysis Based on the UTAUT Model
Authors: Baum Ulrike , Kühn Frauke , Lichters Marcel , Baum Anne-Katrin , Deike Renate , Hinrichs Hermann , Neumann Thomas
Published: October 2022

Home monitoring examinations offer diagnostic and economic advantages compared to inpatient monitoring. In addition, these technical solutions support the preservation of health care in rural areas in the absence of local care providers. The acceptance of patients is crucial for the implementation of home monitoring concepts. The present research assesses the preference for a health service that is to be introduced, namely an EEG home-monitoring of neurological outpatients—using a mobile, dry-electrode EEG (electroencephalography) system—in comparison to the traditional long-time EEG examination in a hospital. Results of a representative study for Germany (n = 421) reveal a preference for home monitoring. Importantly, this preference is partially driven by a video explaining the home monitoring system. We subsequently analyzed factors that influence the behavioral intention (BI) to use the new EEG system, drawing on an extended Unified Theory of Acceptance and Use of Technology (UTAUT) model. The strongest positive predictor of BI is the belief that EEG home-monitoring will improve health quality, while computer anxiety and effort expectancy represent the strongest barriers. Furthermore, we find the UTAUT model’s behavioral intention construct to predict the patients’ decision for or against home monitoring more strongly than any other patient’s characteristic such as gender, health condition, or age, underlying the model’s usefulness.
Optimal Stopping Methods for Investment Decisions: A Literature Review
Authors: Liu Zhenya , Mu Yuhao
Published: October 2022

Investors decide the best time to take a given action by maximizing their utility function while taking into account current information and the underlying process in the optimal stopping model. Option pricing, sequential analysis, disorder problems, and other problems requiring time decision-making are all examples of this type of problem. A lot of literature has studied optimal stopping models and put forward the corresponding solutions. Investors in financial markets must also know when to buy and sell, so timing is crucial. This paper presents a classified review of the literature on optimal stopping models, followed by a summary of the strategies that can be used in financial markets to make investment decisions using optimal stopping methods.
A Comprehensive Assessment of Qualitative and Quantitative Prodromal Parkinsonian Features in Carriers of Gaucher Disease—Identifying Those at the Greatest Risk
Authors: Becker-Cohen Michal , Zimran Ari , Dinur Tama , Tiomkin Maayan , Cozma Claudia , Rolfs Arndt , Arkadir David , Shulman Elena , Manor Orly , Paltiel Ora , Yahalom Gilad , Berg Daniela , Revel-Vilk Shoshana
Published: October 2022

Carriers of GBA1 gene variants have a significant risk of developing Parkinson’s disease (PD). A cohort study of GBA carriers between 40–75 years of age was initiated to study the presence of prodromal PD features. Participants underwent non-invasive tests to assess different domains of PD. Ninety-eight unrelated GBA carriers were enrolled (43 males) at a median age (range) of 51 (40–74) years; 71 carried the N370S variant (c.1226A > G) and 25 had a positive family history of PD. The Montreal Cognitive Assessment (MoCA) was the most frequently abnormal (23.7%, 95% CI 15.7–33.4%), followed by the ultrasound hyperechogenicity (22%, 95% CI 14–32%), Unified Parkinson’s Disease Rating Scale part III (UPDRS-III) (17.2%, 95% CI 10.2–26.4%), smell assessment (12.4%, 95% CI 6.6–20.6%) and abnormalities in sleep questionnaires (11%, 95% CI 5.7–19.4%). Significant correlations were found between tests from different domains. To define the risk for PD, we assessed the bottom 10th percentile of each prodromal test, defining this level as “abnormal”. Then we calculated the percentage of “abnormal” tests for each subject; the median (range) was 4.55 (0–43.5%). Twenty-two subjects had more than 15% “abnormal” tests. The limitations of the study included ascertainment bias of individuals with GBA-related PD in relatives, some incomplete data due to technical issues, and a lack of well-characterized normal value ranges in some tests. We plan to enroll additional participants and conduct longitudinal follow-up assessments to build a model for identifying individuals at risk for PD and investigate interventions aiming to delay the onset or perhaps to prevent full-blown PD.
Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family
Authors: Sedaghat-Hamedani Farbod , Rebs Sabine , Kayvanpour Elham , Zhu Chenchen , Amr Ali , Müller Marion , Haas Jan , Wu Jingyan , Steinmetz Lars M. , Ehlermann Philipp , Streckfuss-Bömeke Katrin , Frey Norbert , Meder Benjamin
Published: October 2022

Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is of familial origin in 20–40% of cases. Genetic testing by next-generation sequencing (NGS) has yielded a definite diagnosis in many cases; however, some remain elusive. In this study, we used a combination of NGS, human-induced pluripotent-stem-cell-derived cardiomyocytes (iPSC-CMs) and nanopore long-read sequencing to identify the causal variant in a multi-generational pedigree of DCM. A four-generation family with familial DCM was investigated. Next-generation sequencing (NGS) was performed on 22 family members. Skin biopsies from two affected family members were used to generate iPSCs, which were then differentiated into iPSC-CMs. Short-read RNA sequencing was used for the evaluation of the target gene expression, and long-read RNA nanopore sequencing was used to evaluate the relevance of the splice variants. The pedigree suggested a highly penetrant, autosomal dominant mode of inheritance. The phenotype of the family was suggestive of laminopathy, but previous genetic testing using both Sanger and panel sequencing only yielded conflicting evidence for LMNA p.R644C (rs142000963), which was not fully segregated. By re-sequencing four additional affected family members, further non-coding LMNA variants could be detected: rs149339264, rs199686967, rs201379016, and rs794728589. To explore the roles of these variants, iPSC-CMs were generated. RNA sequencing showed the LMNA expression levels to be significantly lower in the iPSC-CMs of the LMNA variant carriers. We demonstrated a dysregulated sarcomeric structure and altered calcium homeostasis in the iPSC-CMs of the LMNA variant carriers. Using targeted nanopore long-read sequencing, we revealed the biological significance of the variant c.356+1G>A, which generates a novel 5′ splice site in exon 1 of the cardiac isomer of LMNA, causing a nonsense mRNA product with almost complete RNA decay and haploinsufficiency. Using novel molecular analysis and nanopore technology, we demonstrated the pathogenesis of the rs794728589 (c.356+1G>A) splice variant in LMNA. This study highlights the importance of precise diagnostics in the clinical management and workup of cardiomyopathies.
Components of the Complement Cascade Differ in Polycystic Ovary Syndrome
Authors: Butler Alexandra E. , Moin Abu Saleh Md , Sathyapalan Thozhukat , Atkin Stephen L.
Published: October 2022

Complement pathway proteins are reported to be increased in polycystic ovary syndrome (PCOS) and may be affected by obesity and insulin resistance. To investigate this, a proteomic analysis of the complement system was undertaken, including inhibitory proteins. In this cohort study, plasma was collected from 234 women (137 with PCOS and 97 controls). SOMALogic proteomic analysis was undertaken for the following complement system proteins: C1q, C1r, C2, C3, C3a, iC3b, C3b, C3d, C3adesArg, C4, C4a, C4b, C5, C5a, C5b-6 complex, C8, properdin, factor B, factor D, factor H, factor I, mannose-binding protein C (MBL), complement decay-accelerating factor (DAF) and complement factor H-related protein 5 (CFHR5). The alternative pathway of the complement system was primarily overexpressed in PCOS, with increased C3 (p < 0.05), properdin and factor B (p < 0.01). In addition, inhibition of this pathway was also seen in PCOS, with an increase in CFHR5, factor H and factor I (p < 0.01). Downstream complement factors iC3b and C3d, associated with an enhanced B cell response, and C5a, associated with an inflammatory cytokine release, were increased (p < 0.01). Hyperandrogenemia correlated positively with properdin and iC3b, whilst insulin resistance (HOMA-IR) correlated with iC3b and factor H (p < 0.05) in PCOS. BMI correlated positively with C3d, factor B, factor D, factor I, CFHR5 and C5a (p < 0.05). This comprehensive evaluation of the complement system in PCOS revealed the upregulation of components of the complement system, which appears to be offset by the concurrent upregulation of its inhibitors, with these changes accounted for in part by BMI, hyperandrogenemia and insulin resistance.
A Comparison of RNA Interference via Injection and Feeding in Honey Bees
Authors: Zhang Yong , Li Zhen , Wang Zi-Long , Zhang Li-Zhen , Zeng Zhi-Jiang
Published: October 2022

RNA interference (RNAi) has been used successfully to reduce target gene expression and induce specific phenotypes in several species. It has proved useful as a tool to investigate gene function and has the potential to manage pest populations and reduce disease pathogens. However, it is not known whether different administration methods are equally effective at interfering with genes in bees. Therefore, we compared the effects of feeding and injection of small interfering RNA (siRNA) on the messenger RNA (mRNA) levels of alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1), 4-coumarate-CoA ligase (4CL), and heat shock protein 70 (HSP70). Both feeding and injection of siRNA successfully knocked down the gene but feeding required more siRNA than the injection. Our results suggest that both feeding and injection of siRNA effectively interfere with brain genes in bees. The appropriateness of each method would depend on the situation.
Lip Bumper Therapy Does Not Influence the Sagittal Mandibular Incisor Position in a Retrospective CBCT Study
Authors: Griswold Olivia , Li Chenshuang , Orr Justin C. , Boucher Normand S. , Shah Shalin R. , Chung Chun-Hsi
Published: October 2022

Lip bumper (LB) therapy is used as a treatment approach for mild to moderate crowding without extraction of teeth. Previous studies demonstrated that LB increases arch length through molar uprighting and lateral expansion. However, the effects of LB on mandibular incisors are inconclusive. The controversial results from different studies may be due to limitations including absence of a control group and/or use of 2D radiography. To address this issue, the current retrospective longitudinal CBCT study compared a rapid maxillary expansion (RME) group with no lower treatment [16 patients (9 females, 7 males); median age 8.86 years at T1 and 11.82 years at T2] and an RME + LB group [18 patients (13 females, 5 males); median age 9.46 years at T1 and 12.10 years at T2]. The CBCTs taken before and after phase 1 treatment were 3D superimposed based on the mandibular structure and were measured to determine the angular and linear changes of the mandibular incisors over the course of LB treatment. For comparisons between different timepoints within a group, a Wilcoxon matched-pairs signed rank test was used. For intergroup comparisons, a Mann–Whitney U test was used. Both groups showed eruption and protrusion of the mandibular incisors during the observation period, while there was no significant change in proclination of the lower incisors. When comparing the discrepancy of change between groups, there was no statistically significant difference detected. In summary, by utilizing a longitudinal 3D database, the current study demonstrated that the effect of LB on the position of the mandibular incisors is limited.
Comment on von Känel et al. Early Trauma-Focused Counseling for the Prevention of Acute Coronary Syndrome-Induced Posttraumatic Stress: Social and Health Care Resources Matter. J. Clin. Med. 2022, 11, 1993
Authors: Sopek Merkaš Ivana , Lakušić Nenad
Published: October 2022

Posttraumatic stress disorder (PTSD) is a debilitating disorder, and it is known that it can be triggered by acute coronary syndrome (ACS). Patients with ACS-induced PTSD have an increased risk of recurrent adverse cardiovascular events and mortality. This is still an insufficiently recognized subgroup of patients among clinicians that could benefit from specific therapeutic and rehabilitation approaches.
The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy
Authors: Petrovic Pajic Sanja , Lapajne Luka , Vratanar Bor , Fakin Ana , Jarc-Vidmar Martina , Sustar Habjan Maja , Volk Marija , Maver Ales , Peterlin Borut , Hawlina Marko
Published: October 2022

(1) Background: The purpose of this study was to evaluate the thickness of retinal layers in Leber hereditary optic neuropathy (LHON) in the atrophic stage compared with presumably inherited bilateral optic neuropathy of unknown cause with the aim of seeing if any LHON-specific patterns exist. (2) Methods: 14 patients (24 eyes) with genetically confirmed LHON (LHON group) were compared with 13 patients (23 eyes) with negative genetic testing results (mtDNA + WES) and without identified etiology of bilateral optic atrophy (nonLHON group). Segmentation analysis of retinal layers in the macula and peripapillary RNFL (pRNFL) measurements was performed using Heidelberg Engineering Spectralis SD-OCT. (3) Results: In the LHON group, the thickness of ganglion cell complex (GCC) (retinal nerve fiber layer (RNFL)—ganglion cell layer (GCL)—inner plexiform layer (IPL)) in the central ETDRS (Early Treatment Diabetic Retinopathy Study) circle was significantly higher than in the nonLHON group (p < 0.001). In all other ETDRS fields, GCC was thinner in the LHON group. The peripapillary RNFL (pRNFL) was significantly thinner in the LHON group in the temporal superior region (p = 0.001). Longitudinal analysis of our cohort during the follow-up time showed a tendency of thickening of the RNFL, GCL, and IPL in the LHON group in the central circle, as well as a small recovery of the pRNFL in the temporal region, which corresponds to the observed central macular thickening. (4) Conclusions: In LHON, the retinal ganglion cell complex thickness (RNFL-GCL-IPL) appears to be relatively preserved in the central ETDRS circle compared to nonLHON optic neuropathies in the chronic phase. Our findings may represent novel biomarkers as well as a structural basis for possible recovery in some patients with LHON.
Telemedicine and Digital Health Applications in Vascular Surgery
Authors: Lareyre Fabien , Chaptoukaev Hava , Kiang Sharon , Chaudhuri Arindam , Behrendt Christian-Alexander , Zuluaga Maria , Raffort Juliette
Published: October 2022

Background: Telemedicine has the potential to revolutionize healthcare. While the development of digital health technologies for the management of patients with cardiovascular diseases has been increasingly reported, applications in vascular surgery have been far less specifically investigated. The aim of this review is to summarize applications related to telemedicine in vascular surgery, highlighting expected benefits, current limits and future directions. Methods: The MEDLINE database was searched using a combination of keywords to identify studies related to telehealth/telemedicine in three main pathologies, including aortic, peripheral artery and carotid disease. A comprehensive literature review was performed to identify the type of digital application, intended use, expected benefits, strengths and limitations. Results: Telemedicine can improve the management of patients through digital platforms allowing teleconsultation, telemonitoring or telecoaching. Intended use involved remote consultation with a vascular surgeon, applications to enhance education, self-management, follow-up or adherence to treatment or lifestyle changes. Conclusion: Telemedicine offers innovative perspectives to improve access to care in distant locations and optimize care through patients’ empowerment and personalized follow-up, contributing to the development of precision medicine. Huge efforts remain necessary for its implementation in daily clinical practice and involve ethical, legal, technical, economic and cultural considerations.
Barriers to Gait Training among Stroke Survivors: An Integrative Review
Authors: Tavares Eveline , Coelho Joana , Rogado Patrícia , Correia Rita , Castro Cidália , Fernandes Júlio Belo
Published: October 2022

Gait recovery is vital for stroke survivors’ ability to perform their activities associated with daily living. Consequently, a gait impairment is a significant target for stroke survivors’ physical rehabilitation. This review aims to identify barriers to gait training among stroke survivors. An integrative review was conducted following Whittemore and Knafl’s methodology. The research was carried out on the electronic databases Scopus, PubMed, and B-on, applying a time span of 2006 to 2022. A total of 4189 articles were initially identified. After selecting and analyzing the articles, twelve studies were included in the sample. This review allowed for the identification of several barriers to gait training among stroke survivors, which can be grouped into three categories: individual, environmental, and rehabilitation workforce-related barriers. These findings highlight that participation in gait training is not solely dependent on the stroke survivor. Instead, the uptake of rehabilitation programs may also depend on environmental and rehabilitation workforce-related factors.
I Choose to Opt-Out of Answering: Individual Differences in Giving Up Behaviour on Cognitive Tests
Authors: Law Marvin K. H. , Stankov Lazar , Kleitman Sabina
Published: October 2022

Under the Meta-reasoning model, the process of giving up when a solution may not be feasible reflects an adaptive metacognitive strategy, where individuals opt-out of responding to mitigate error and resource costs. However, research is still needed to determine whether individuals systematically vary in this behaviour and if so, which variables it meaningfully relates with. The current study (N = 176) is the first to examine factorial stability in giving up tendencies and its relationships with on-task confidence, cognitive ability, decision-making predispositions, and academic performance. To measure giving up tendencies, participants completed three cognitive tests which allowed for opting out, thereby capturing giving up frequency within each test and its consistency across tests. Participants also completed five other cognitive tasks embedded with confidence ratings, and a decision-making styles questionnaire. Confirmatory factor analyses were conducted on all giving up, confidence, and accuracy variables, with a three-factor solution having the best fit (containing a giving up factor, confidence factor, and cognitive ability factor). Supporting the proposed adaptive nature of giving up tendencies, the giving up factor correlated positively with cognitive ability, rational decision making, and academic performance. This research establishes factorial stability in giving up tendencies and provides a foundation for further investigation into its role within Meta-reasoning theory.
A Study on the Relationship between the Dynamic Behaviors of the Leader and Group Performance during Creativity
Authors: Zhao Qingbai , Li Ying , Li Songqing , Liang Zheng , Chen Shi , Ga Riman , Yu Quanlei , Zhou Zhijin
Published: October 2022

The leader is considered to play key roles such as organization or management in promoting group creativity. Previous studies focused more on the psychological and behavioral characteristics rather than on the dynamic behaviors of leaders in group activity. In this study, two experiments were conducted to respectively explore the effects of emergent and elected leaders’ problem-solving related utterances and turn-taking in conversation on group creativity. The results of Experiment 1 showed that, for emergent leaders, none of the utterances about problem solving of leaders was different from that of followers and leaders’ utterances about retrospective summary were positively related to the appropriateness of group creativity; meanwhile, the frequency of turns of leaders was higher than that of followers and was positively related with the appropriateness of group creativity. The results of Experiment 2 showed that, for elected leaders, the utterances about problem analysis, strategy planning, control and reflection, and retrospective summary of leaders were more than that of followers and leaders’ utterances about viewpoint generation were positively related to both novelty and appropriateness, while the frequency of turns of leaders was neither different from followers nor related to the novelty and appropriateness. This study focused on the dynamic behaviors of leaders in interpersonal interaction and revealed the role of leaders in group creativity.
Correction: Battisti, F.; Campo, O. The Assessment of Density Bonus in Building Renovation Interventions. The Case of the City of Florence in Italy. Land 2021, 10, 1391
Authors: Battisti Fabrizio , Campo Orazio
Published: October 2022

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