bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of Five Novel Variants of ADAR1 in Dyschromatosis Symmetrica Hereditaria by Next-generation Sequencing
Authors: Ma Qian , Che Lingyi , Chen Yibing , Duan Juan , Gu Zhuoyu 
Published: April 2022

Abstract
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic mutations causing DSH have been identified in the adenosine deaminase acting on RNA1 gene (ADAR1), which is mapped to chromosome 1q21. The present study aimed to investigate the underlying pathological mechanism in 14 patients with DSH from five unrelated Chinese families. Next-generation sequencing (NGS) and direct sequencing were performed on a proband with DSH to identify causative mutations. All coding, adjacent intronic, and 5′- and 3′-untranslated regions of ADAR1 were screened, and variants were identified. These mutations consisted of three missense mutations (NM_001025107: c.716G > A, NM_001111.5: c.3384G > C, and NM_001111.5: c.3385T > G), one nonsense mutation (NM_001111.5:c.511G > T), and one splice-site mutation (NM_001111.5: c.2080-1G > T) located in exon 2, exon 14, and the adjacent intronic region according to recommended Human Genome Variation Society (HGVS) nomenclature. Moreover, using polymerase chain reaction and Sanger sequencing, we identified five novel ADAR1 variants, which can be predicted to be pathogenic by in silico genome sequence analysis. Among the mutations, the missense mutations had no significant effect on the spatial structure of the protein, while the stop codon introduced by the nonsense mutation truncated the protein. Our results highlighted that the advent of NGS has facilitated high-throughput screening for the identification of disease-causing mutations with high accuracy, stability, and specificity. Five novel genetic mutations were found in five unrelated families, thereby extending the pathogenic mutational spectrum of ADAR1 in DSH and providing new insights into this complex genetic disorder.
Nonlinear Dynamics of Yaw Motion of Surface Vehicles
Authors: Kambali Prashant , Nataraj C. 
Published: April 2022

Abstract
The dynamics of surface vehicles such as boats and ships, when modeled as a rigid body, is complex as it is strongly nonlinear and involves six degrees of freedom. We are particularly interested in the steering dynamics decoupled from pitching and rolling as the basis of our research on unmanned boats and autonomy. Steering dynamics has been traditionally modeled using a linear Nomoto model, which however does a poor job of capturing real nonlinear phenomena. On the other hand, there exists a somewhat simplified three degree of freedom nonlinear model derived by Abkowitz, which, although better than the Nomoto model, is still too intractable for analytical methods. In this paper, we derive a nonlinear single degree of freedom model with a cubic nonlinearity that is conditionally equivalent to the Abkowitz model. Using this model we analyze the yaw motion of an autopilot ship with a PD controller under the influence of an external wave force.
Analytical and numerical investigations of the nonlinear dynamics are performed using parameters of an example container ship for various sea states. We employ the harmonic balance method to investigate the nonlinear frequency response of the ship under the influence of different parameters and demonstrate that the external wave force is balanced by stiffer ships. We also numerically investigate the nonlinear dynamic behavior to understand the different mechanisms involved in transitions from periodic to chaotic behavior under the influence of various parameters and different sea state conditions. The analysis reveals periodic response of the ship for a calm sea state. It is noteworthy that for lower values of linear stiffness, higher values of nonlinear stiffness, and higher values of external wave force corresponding to higher sea states, the bifurcation structure reveals mixed dynamic response in which periodic solutions evolve into period doubled, period tripled, and chaotic like solutions even with high levels of damping. This work aims to demonstrate the utility of a simple nonlinear model and nonlinear behavior of steering motion of the ships to gain better insight into the nonlinear dynamics of autonomous surface vehicles. Further, the model stands out as an accessible nonlinear model for steering motion of the ship adequately representing the dynamics of real ships. It hence provides a basis for much improved controller design to implement smarter autopilots on manned ships but also aids in the development of robust autonomy in surface vehicles.
Causal complexity of environmental pollution in China: A province-level fuzzy-set qualitative comparative analysis
Authors: Chen Yang , Hong Jingke , Tang Miaohan , Zheng Yuxi , Qiu Maoyue , Ni Danfei 
Published: April 2022

Abstract
Environmental problems are endowed with the causal complexity of multiple factors. Traditional quantitative research on the influencing mechanism of environmental pollution has tended to focus on the marginal effects of specific influencing factors but generally neglected the multiple interaction effects between factors (especially three or more). Based on the panel data of 30 Chinese provinces between 2011 and 2017, this study employs fuzzy set qualitative comparative analysis (fsQCA) - which can provide a fine-grained insight into causal complexity of environmental issues - to shed light on the influencing mechanism of environmental pollution. The results show that there are several different configurations of pollution drivers which lead to high pollution or low pollution in provinces, confirming the multiple causality, causal asymmetry, and equifinality of environmental pollution. Further, the combination effect of advanced industrial structure, small population size, and technological advance is significant in achieving a state of green environment compared to environmental regulation factors. In addition, spatiotemporal analysis of the configurations indicates that strong path dependencies and spatial agglomeration exist in current local environmental governance patterns. Finally, according to our findings, targeted policy recommendations are provided.
Influence of pH on moisture-absorbing swelling cracks of red layer in central Sichuan and its micro-mechanism
Authors: Huang Kang , Yu Fei , Zhou Zhe , Tong Kaiwen , Zhang Wei , DAI Zhangjun , Chen Shanxiong 
Published: April 2022

Abstract
In this study, the characteristics of self-absorption cracking and its micro-mechanism in the dry state of red mudstone in central Sichuan in the southwestern region were examined using a self-designed water absorption device combined with the digital speckle correlation method (DSCM), scanning electron microscopy, X-ray diffraction experiments, mercury intrusion experiments, and other methods. The results indicated theta compared with an alkaline environment, an acidic environment resulted in the self-absorption and cracking of mudstone. The maximum water absorption rate of mudstone and fracture rate in a pH of 3 were determined as 15.77 and 18.909%, respectively; whereas for pH = 11, they were 11.71 and 7.111%, respectively. In the acidic environment, the maximum combined displacement value and maximum principal strain value of mudstone self-priming and swelling evolution were both greater than in an alkaline environment. Simultaneously, in the former, the moisture absorption failure characteristics of mudstone exhibited increased swelling strain zones and swelling cores. The three possible mechanisms by which pH affects the expansion of mudstone hygroscopic fissures were proposed: hydration-expansion softening, adsorption-wedge failure, and humidity stress field. However, it was found that the solutions with different pH values may affect these three microscopic mechanisms through the following four physical or chemical processes: mineral dissolution, ion absorption and exchange, particle association, and pore change. The results of this study are expected to be of significance and aid in roadbed design, tunnel support, slope treatment, and other projects in the southwest region.
Pathological and Molecular Investigation of Canine Distemper Virus: Phylogenetic analysis of co-circulating genetic lineages based on H and F genes
Authors: Karapınar Zeynep , İLHAN Fatma , USTA Mustafa , Timurkan Mehmet Özkan 
Published: April 2022

Abstract
Canine distemper virus (CDV) is a multi-systemic, highly contagious virus that infects a wide variety of carnivore species, ranging from subclinical to fatal disease. In this study, dogs with clinically suspected Canine distemper were examined by reverse transcriptase-polymerase chain reaction (RT-PCR), histopathology and immunohistochemistry. Phylogenetic analysis was performed using the obtained partial H and F gene sequences and the sequences were compared with CDV strains obtained from the GenBank. Histopathologically, characteristic intracytoplasmic and/or intranuclear inclusion bodies were observed in the CNS, lung, stomach, small intestine, liver, kidney, and spleen with encephalitis, interstitial/bronchointerstitial pneumonia, gastroenteritis. In addition, CDV antigens were detected in all tissues with characteristic histopathological findings of CDV antigens were detected in all tissues with characteristic histopathological findings of Canine Distemper. The antigens were more intense in bronchial and bronchiolar with interstitial and bronchointerstitial pneumoni and inclusion bodies, syncytial cells. It was determined with the phylogenetic map created at the end of the sequence analysis that European and Arctic strains are circulating together in the region.
Factors Influencing Wait and Watch Management for Primary Chronic Subdural Hematoma: A Retrospective Case–control Study
Authors: Zhang Xinjie , Sha Zhuang , Gao Chuang , Tian Ye , Wei Huijie , Liu Xuanhui , Xiang Tangtang , Wang Dong , Quan Wei , Yang Chaohua , Huang Jinhao , Zhang Jianning , Jiang Rongcai 
Published: April 2022

Abstract
Prognostic factors in patients with primary chronic subdural hematoma (CSDH) taking the natural course are unclear. To identify independent influencing factors of wait-and-watch management, a case–control study of moderate CSDH patients using wait-and-watch as monotherapy in a single center from February 2014 to November 2021 was conducted. A total of 39 patients who responded to wait-and-watch management (cases) and 24 nonresponders (controls) matched for age, sex, height, weight, MGS-GCS (Markwalder grading scale and Glasgow Coma Scale), and bilateral hematoma were included. Demographics, blood cell counts, serum biochemical levels, imaging data, and relevant clinical features at baseline were collected. Significant differences between cases and controls were found in the hematoma volume, ability to urinate, maximal thickness of the hematoma, and hypodensity of the hematoma in univariate analysis. Hypodense hematoma and hematoma volume were independently associated with the outcome in multivariate analysis. Combining these independently influencing factors revealed an area under the receiver operator characteristic curve of 0.741 (95% CI: 0.609-0.874, sensitivity = 0.783, specificity = 0.667). These findings may contribute to the early detection of patients with moderate CSDH who may respond to wait-and-watch strategies. Although wait-and-watch tactics could work sometimes, medical interventions, including drug treatment, should be recommended in the clinic.
Prevalence and associated risk factors of abdominal obesity among civil servant women in Addis Ababa, Ethiopia, 2021: institutional based cross- sectional study
Authors: Gebretsadik Solomon , Worku Ayele , Kassie Genanew 
Published: April 2022

Abstract
Background: Abdominal obesity remains to be a major public health problem connected to an increased risk of disease, disability, poor quality of life, and increased health-care costs. It has been also related to metabolic syndrome, like hypertension, cardiovascular disease, diabetes, and other non-communicable diseases. Therefore, the goal of this study was to determine the prevalence of abdominal obesity and associated risk factors among female civil servants in Addis Ababa, Ethiopia, 2021.Method and materials:An institutional based cross-sectional study was undertaken from 31th of March to 15th of April, 2021.A two stage random sampling techniquewas employed to select 451 study participants. Data was edited, coded and entered into Epi data version 3.1 and then exported to SPSS version 21 for analysis. Descriptive data analysis was used to present the distribution of study variable.Bivariable and multivariable analysis were used to assess the relationship between independent variables and abdominal obesity. The level of statistical significance was declared at p-value less than 0.05. Result: The prevalence of abdominal obesity by waist circumference was found to be 29.5 %(95% CI: 25.39-33.6%). In multivariable logistic regression model age group 29-37 years [AOR= 2.553, 95% CI: (1.237-5.271)], age group 38-46 years [AOR=4.027, 95% CI: (1.360-11.925)], age group 47-55 [AOR=7.008, 95% CI: (1.463-33.578)], being married [AOR= 4.736, 95% CI: (2.290-9.798)] consumption of meat 1-4 times per week[AOR=2.341, 95% CI: (1.215-4.509)], consumption of meat >=5 per week [ AOR= 5.257, 95% CI: (2.068-13.364)], and having lunch daily[AOR= 0.331, 95% CI: (0.136-0.804)] were significantly associated with abdomial obesity. Conclusion: Prevalence of abdominal by waist circumference was 29.5%..Age, being married, high consumption of meat, having lunch daily were identified as a risk factors for abdominal obesity. So, awareness creation about age induced abdominal obesity for older and middle age group is needed. Likewise, promotion to use diversified food rather than consuming meat based diet can reduce the risk of abdominal obesity in combination with other nutrition intervention methods.
Developing an Unstructured Supplementary Service Data-based mobile phone app to provide adolescents with sexual reproductive health information: A human-centered design approach
Authors: Macharia Paul , Pérez-Navarro Antoni , Inwani Irene , Nduati Ruth , Carrion Carme 
Published: April 2022

Abstract
Background
Adolescent pregnancies and sexually-transmitted infections continue to impact 15–19-year-olds across the globe. The lack of sexual reproductive health information in resource-limited settings can often be due to cultural and societal attitudes to adolescent sexual reproductive health. Innovative approaches, including mobile phone technologies, are needed to address the need for adolescent reproductive health information.
Methods
A human-centered design methodology was applied. This practice framework allowed the perspectives and feedback of adolescent users to be included in the iterative design process. Field usability testing enabled the adolescents to provide feedback on the functionality, usability, and usefulness of the app.
Results
During the usability test, 62 (54.9%) of the adolescents that were followed-up had used the app at least once, 30 (48.4%) of these were male participants and 32 (51.6%) female. The app was described as ‘very interesting’ to use by 44 (70.9%) of the participants, 20 males and 24 females. The content was deemed to be either ‘perfectly’ or ‘well targeted’ on sexual reproductive health by 60 (96.7%) adolescents, and the app was rated ‘best app’ by 45 (72.6%) adolescents, 27 females and 18 males, with a p-value = 0.011.
Conclusions
A mobile phone app is a feasible and acceptable way to deliver adolescent sexual reproductive health information in resource-limited settings. The Unstructured Supplementary Service Data (USSD) mobile phone technology could deliver confidential information on demand.
Varian Eclipse Stereotactic Cone Data Commissioning
Authors: Firth Dominika , Fogg Penny , Christiansen Peter 
Published: April 2022

Abstract
Conical collimators are effective and readily available accessories for the field shaping of small stereotactic fields, however the measurements required to accurately characterise the smallest radiation fields are difficult and prone to large errors. Furthermore, there is little published commissioning data to compare measurements against. The aim of this investigation was to commission the cone dose calculation algorithm of a Varian Eclipse treatment planning system for a Varian 5mm conical collimator attached to a Varian TrueBeam linear accelerator that had been beam-matched to the Varian Golden Beam Data (GBD). Tissue maximum ratios (TMRs), off-axis ratios (OARs), and the output factor (OF) were measured using a PTW 60019 microDiamond and a PTW 60018 SRS Diode detector. Results were compared to the GBD for this collimator, radiochromic film measurements, and an output factor measured during an independent audit by the Australian Clinical Dosimetry Service. Film dosimetry was used to evaluate Eclipse dose calculations in a solid water phantom and end-to-end accuracy with an anthropomorphic head phantom. A PTW BEAMSCAN water phantom was used to collect the data, and output correction factors were derived from IAEA TRS-483. Gamma analysis was used to compare measured TMRs and profiles, and to compare Eclipse dose planes with film dosimetry results. Good agreement was obtained between the measurements with the two detectors, and with the various comparisons carried out to confirm both measurement accuracy and planning system configuration. It was decided to configure Eclipse with the microDiamond OF and the SRS Diode measured TMR and OAR data.
The Protective Effect of N-Acetylcysteine on MK-801 Induced Neurodegeneration in Mice
Authors: AKOSMAN MURAT SIRRI , Türkmen Ruhi , Demirel Hasan Hüseyin 
Published: April 2022

Abstract
The neurological disorders not only a decline in the quality of life for patients but also causes a global economic burden. Therefore protective medicine becomes more important for the society. MK-801 is one of the chemical agents used to understand the etiology of behavioral disorders and brain degeneration in animal models. This study aims to determine whether N-acetylcysteine (NAC) is useful to treat brain degeneration caused by MK-801, an N-methyl-D-aspartate glutamate receptor antagonist. For this, 4 groups were formed by dividing 24 male BALB/c mice into groups of six. The control group was given a saline solution (10 ml/kg-i.p.). While MK-801 (1 mg/kg-i.p.) was given both alone and with NAC (100 mg/kg-i.p.), the last group was given only NAC (100 mg/kg-i.p.). The drug administrations lasted for fourteen days. After the behavior tests (open field and elevated plus-maze) all animals were sacrificed and, brain tissues were collected for Real-time PCR, TAS-TOS analysis, and Hematoxylene-Eosine, Kluver-Barrera, and the TUNEL stains. In the MK-801 group, besides the neuron nuclear shrinkage, glial cell infiltration, vacuolization in cortical neurons, white matter damage, and apoptosis were observed. In the mice given NAC as a protector, it was observed that behavioral problems improved, antioxidant levels increased, and nuclear shrinkage, glial cell infiltration, vacuolization in the neurons and, white matter degeneration were prevented, MBP expression increased and TUNEL-positive cells significantly decreased. As a result, it has been observed that NAC may have a protective effect against brain degeneration.
Dioscin alleviates the progression of osteoarthritis: an in vitro and in vivo study
Authors: Ding Qing , Zhang Ruizhuo , Wang Tianqi , Sheng Gaohong , Jing Shaoze , Wang Shanxi , Yan Jiyuan , Zhao Hongqi , Wu Hua , Li Wenkai 
Published: April 2022

Abstract
Osteoarthritis (OA) is a common joint disease and is the main cause of physical disability in the elderly. Currently, there is no adequate therapeutic strategy to reverse the progression of OA. Many natural plant extracts have received attention in the treatment of OA due to their potential anti-inflammatory properties, and reduced incidence of adverse events. Dioscin (Dio), a natural steroid saponin, has been demonstrated to inhibit the release of inflammatory cytokines in mouse and rat models of various diseases, and has a protective effect in chronic inflammatory diseases. However, whether Dio alleviates OA progression remains to be explored. In this research, our purposes were to investigate the therapeutic potential of Dio in OA and its underlying mechanisms. The results demonstrated that Dio exerted anti-inflammatory effects by repressing iNOS and COX-2. Moreover, the application of Dio could repress IL-1β-induced overexpression of matrix metalloproteinases (MMPs, including MMP1, MMP3, and MMP13) and ADAMTS-5, and improve the synthesis of collagen II and aggrecan, which contribute to the maintenance of chondrocyte matrix homeostasis. The underlying mechanism involved the inhibition of the MAPK and NF-κB signaling pathways by Dio. Furthermore, the in vivo study revealed that Dio could ameliorate cartilage erosion and degradation. These results collectively indicate that Dio can be used as a promising and effective agent for the therapy of OA.
Low prevalence of Hepatitis B virus infection in HIV-uninfected pregnant women in Cape Town, South Africa: Implications for oral pre-exposure prophylaxis roll out
Authors: Davey Dvora Joseph , Hsiao Nei-yuan , Spearman Wendy , Sonderup Mark , Hu Nai-Chung , Mashele Nyiko , Mvududu Rufaro , Myer Landon 
Published: April 2022

Abstract
Background: Oral daily preexposure prophylaxis (PrEP) using emtricitabine (FTC)/tenofovir disoproxil fumarate (TDF) is recommended as standard of care for prevention in individuals at high risk for HIV infection, including pregnant and postpartum cisgender women. FTC/TDF is also active against HBV; however, concern has been raised that providing PrEP to individuals infected with HBV could lead to hepatitis flares and liver injury, especially in the setting of suboptimal PrEP use.Methods: We conducted a cross-sectional analysis of baseline data from the PrEP in pregnant and postpartum women (PrEP-PP) cohort study from February 2020-March 2022 in one antenatal care clinic in Cape Town, South Africa (SA) to evaluate: (1) the field performance of a point of care test (POCT) (Determine II, Abbott Inc., Japan) for diagnosis of hepatitis b surface antigen (HBsAg) in a maternity setting, (2) the prevalence of HBV in a cohort of pregnant women not living with HIV. Results: We enrolled 1194 HIV sero-negative pregnant women at their first antenatal visit. Median age was 26 years (IQR= 22-31 years); 52% were born before 1995 (before HBV vaccines had started in South Africa). Median gestational age was 22 weeks (IQR=16-30 weeks). There were 8 POCT and laboratory confirmed HBV cases among 1194 women. The overall prevalence of 0.67% (95% CI=0.34-1.32%). In women born before 1995, 8 of 622 women were diagnosed with HBsAg; the prevalence was 1.29% (95% CI=0.65-2.52%), and in women born in 1995 or after (n=572); the prevalence was 0% (95% CI=0.0-0.67%). We confirmed the test results in 99.8% of the rapid HBsAg (Determine II). Sensitivity was 100% (95% CI=68-100%). Specificity was 100% (95% CI=99.67-100%).Conclusion: The prevalence of HBV was very low in pregnant women not living with HIV and was only in women born before the HBV vaccine was included in the expanded vaccine program. The Determine II POCT HBsAg showed excellent performance against the laboratory assay. HBV screening should not be a barrier to starting PrEP in the context of high HIV risk communities.