bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort
Authors: Nagabushana Divya , Polavarapu Kiran , Bardhan Mainak , Arunachal Gautham , Gunasekaran Swetha , Preethish-Kumar Veeramani , Anjanappa Ram Murthy , Thomas PriyaTreesa , Sadasivan Arun , Vengalil Seena , Nashi Saraswati , Chawla Tanushree , Warrier Manjusha , Keerthipriya Muddasu , Raju Sanita , Mohan Dhaarini , Nalini Atchayaram 
Published: April 2021

Background: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused due to large deletions, duplications,and small pathogenic variants. This article compares the carrier frequency of different pathogenic variants in the DMD gene for the first time in an Indian cohort. Methods: Ninety-one mothers of genetically confirmed DMD probands are included in this study. Pathogenic variants in the DMD gene in probands were detected by multiplex ligation-dependent probe amplification (MLPA) or next-generation sequencing (NGS). Maternal blood samples were evaluated either by MLPA or Sanger sequencing. The demographic and clinical details for screening of muscle weakness and cardiomyopathy were collected from the confirmed carriers. Results: Out of 91 probands, large deletions and duplications were identified in 46 and 6 respectively, while 39 had small variants. Among the small variants, substitutions predicted to cause nonsense mutations were the most common (61.5%), followed by frameshift causing small insertion/deletions (25.6%) and splice affecting intronic variants (12.8%). Notably, 19 novel small variants predicted to be disease-causing were identified. Of the 91 mothers, 53 (58.7%) were confirmed to be carriers. Exonic deletions had a significantly lower carrier frequency of 47.8% as compared to small variants (64.1%). The mean age of the carriers at evaluation was 30 years. Among the carriers, two were symptomatic with onset in the 4th decade, manifesting with progressive proximal muscle weakness and dilated cardiomyopathy. Conclusion: Carrier frequency of small pathogenic variants differs significantly from large deletions. Small pathogenic variants are more commonly inherited, whereas large deletions arise de novo.
Micro-premature infants in New Jersey show improved mortality and morbidity from 2000–2018
Authors: Cohen M. , Perl H. , Steffen E. , Planer B. , Kushnir A. , Hudome S. , Brown D. , Myers M. ,   the New Jersey NICU Collaborative
Published: April 2021

BACKGROUND: Micro-premature newborns, gestational age (GA) ≤ 25 weeks, have high rates of mortality and morbidity. Literature has shown improving outcomes for extremely low gestational age newborns (ELGANs) GA ≤ 29 weeks, but few studies have addressed outcomes of ELGANs ≤ 25 weeks. OBJECTIVE: To evaluate the trends in outcomes for ELGANs born in New Jersey, from 2000 to 2018 and to compare two subgroups: GA 23 to 25 weeks (E1) and GA 26 to 29 weeks (E2). METHODS: Thirteen NICUs in NJ submitted de-identified data. Outcomes for mortality and morbidity were calculated. RESULTS: Data from 12,707 infants represents the majority of ELGANs born in NJ from 2000 to 2018. There were 3,957 in the E1 group and 8,750 in the E2 group. Mortality decreased significantly in both groups; E1, 43.2% to 30.2% and E2, 7.6% to 4.5% over the 19 years. The decline in E1 was significantly greater than in E2. Most morbidities also showed significant improvement over time in both groups. Survival without morbidity increased from 14.5% to 30.7% in E1s and 47.2% to 69.9% in E2s. Similar findings held for 501–750 and 751–1000g birth weight strata. CONCLUSIONS: Significant declines in both mortality and morbidity have occurred in ELGANs over the last two decades. These rates of improvements for the more immature ELGANs of GA 230 to 256 weeks were greater than for the more mature group in several outcomes. While the rates of morbidity and mortality remain high, these results validate current efforts to support the micro-premature newborn.
Pathogens carried by Ixodes ricinus and Dermacentor reticulatus ticks including coinfections
Authors: Grochowska A , Pancewicz S , Czupryna P , Dunaj J , Borawski K , Groth M , Moniuszko-Malinowska A 
Published: April 2021

<p><strong>ABSTRACT</strong><br />Ticks and tick-borne pathogens are becoming an emerging threat to the health of both humans and animals. The number of cases of tick-borne diseases, especially Lyme disease, is constantly growing. Over the last several years, coinfections, which could be explained as presence of two of more pathogens in one organism are being observed with growing interest. Their occurrence may lead to severe or unusual symptoms, prolonged disease duration, diagnostic and therapeutic difficulties. Research on this subject concerns mainly ticks of the species Ixodes ricinus, however, literature data suggest that also the species Dermacentor reticulatus plays an important role as a vector of tick-borne pathogens.</p>
<p><strong>STRESZCZENIE</strong><br />Kleszcze i przenoszone przez nie patogeny stanowią coraz większy problem dla zdrowia ludzi i zwierząt. Liczba przypadków zachorowań na choroby odkleszczowe, w szczególności boreliozę, stale rośnie. W ciągu ostatnich kilkunastu lat z coraz większą uwagą obserwowane jest zjawisko koinfekcji, czyli bytowania w jednym organizmie dwóch lub więcej patogenów. Jest to istotne zagadnienie kliniczne, ponieważ jeśli pacjent ulegnie takiemu zakażeniu, może dojść do wystąpienia nasilonych lub nietypowych objawów, przedłużonego czasu trwania choroby czy trudności diagnostycznych i terapeutycznych. Badania kleszczy na ten temat dotyczą głównie tych z gatunku Ixodes ricinus, jednak dane z piśmiennictwa sugerują, że również gatunek Dermacentor reticulatus odgrywa istotną rolę jako wektor patogenów odkleszczowych.</p>
Relationship Between The Number of Cigarettes Per Day and Caffeine Intake on Headache Intensity in Faculty of Medicine Student Batch 2016 of Universitas Sumatera Utara
Authors: Roslan Muhammad Zhariff 
Published: April 2021

Introduction: Headache is pain or discomfort in all areas of the head. Based on the causes, headache can be classified as primary headaches and secondary headaches. Headache can be caused by several factors such as hormones, nutrition, weather, stress, pressure, emotional, sensory problems (cigarette smoke, perfume, etc.), lack of sleep, excessive sleep, fatigue and physical activity. Cigarette smoke contains dangerous substances such as nicotine, which can cause blood vessels to become vasoconstrictive and cause headaches. Caffeine can also cause headaches. Caffeine can be consumed instead of coffee, energy drinks, cocoa and soft drinks. The aim was to determine the relationship of smoking and caffeine consumption to the intensity of headache in the 2016 USU FK whip students.
Method: Analytical research methods, with cross-sectional research design on students of the 2016 University of North Sumatra School of Medicine. The study population was 227 students of the 2016 Faculty of Medicine, University of North Sumatra. The sampling method of this study was total sampling, taking the entire population of the Batch 2016 Faculty of Medicine students. All subjects were asked to fill out a questionnaire about the identity, smoking rate, level of caffeine consumption, intensity and headache frequency determined using NRS. Data analysis was made with SPSS and tested using a correlation test.
Result: Data were analyzed with the Spearman correlation test. The results show 86 respondents are male respondent (38.1%). The female respondents were 140 respondents (61.9%). This makes women the majority gender in this study. Then, the average age value was 21.01 ± 0.048. It was found that Batak tribe respondents had the largest population, as many as 112 respondents (49.6%). Meanwhile the Minang tribe is the least populous population of 5 respondents (2.2%). Found respondents that smoke are 32 respondents (14.2%). Then found respondents that did not smoke are194 respondents (85.8%). 204 respondents consumed caffeine were around 90.3% and 22 respondents that did not consume caffeine which is about 9.7%. Spearman correlation analysis test showed no significant relationship between the number of cigarettes per day and the intensity of headache (p = 0.624) and there was a significant relationship between caffeine intake and headache intensity (p = <0.001).
Conclusion: There is no relationship between the number of cigarettes per day to the headache intensity in the 2016 Faculty of Medicine students of University of North Sumatra. But there is a relationship between the number of cups of caffeine per week to headache intensity in the 2016 Faculty of Medicine students of the University of North Sumatra.
With music: Education against university dropout? On the connection between experiential group music sessions and the university dropout process.
Authors: Csehi Agáta 
Published: April 2021

'Dropout' is a phenomenon in practice and a defined concept in the literature, one of the most actual issues in education. It is a complex and multifaceted process. The Ratio research group, established at J. Selye University in Slovakia, also launched its research to study this phenomenon based on various objective and subjective aspects. The present study introduces a particular part of this research process. Music education is a crucial part of (pre-school and elementary) teacher training, which includes a unity of theoretical and practical knowledge. It is one of the most demanding subjects, which has been proven to cause difficulties in passing exams, in the successful fulfilment of the study conditions of teacher trainees and university studies. According to this facts, the study aims to assess the opinions of first-year (pre-school and elementary) teacher trainees and the objective and subjective circumstances (defined by them) that have helped or hindered them in meeting the study requirements for the subject of music education. Further, the paper aims to map out students' experiences during the study and exam period, which finally provided reinforcement in their university studies' relationship.
Application of QTI query to explore the opinions of teacher students of the Carpathian Basin about ideal teacher interaction
Authors: Horvath Kinga , Tóth Peter 
Published: April 2021

Interaction is considered a basic form of interpersonal contacts from communication theory, psychology and sociology. The process of education can be understood as a chain of mutual impacts between individuals (teacher-pupils or pupils-pupils) (Buda, 1986; Morel et al., 2000; Dagarin, 2004; Vincze, 2013). Building on Watzlawick’s communication theory (1967) and Leary’s interpersonal behaviour model (1957), Wubbels et al. (1987) developed their own model and measuring tool (QTI), which is apt to describe and measure the teacher’s interactional behaviour. QTI is focused on the complex examination of interaction in three dimensions. We conducted our research in the first dimension, which is the assessment of the ideal teacher interaction, using the Hungarian version of the 48-item measurement tool applied by Fisher et al. (1995). Our objectives were to (1) adapt a Hungarian version of the QTI query, (2) map the opinions formed by the 358 teacher students living in the Carpathian Basin and having Hungarian as their mother tongue on the ideal teacher interaction and finally (3) detect the variances caused by the background variables. According to the gained results, (1) ideal teacher interactions are characterized by directing (DC), helpful (CD), and understanding (CS) manner, while imposingness (DO) and compliance (SC) are evaluated diversely. (2) Concerning the background variables (gender, specialization, country and type of secondary school), significant differences have been found only in terms of the last two QTI variables. Keywords: teacher interaction, teachers’ interpersonal classroom behaviour, QTI, teacher training
Machine Learning-Augmented Propensity Score Analysis of Percutaneous Coronary Intervention in Over 30 Million Cancer and Non-cancer Patients
Authors: Monlezun Dominique J. , Lawless Sean , Palaskas Nicolas , Peerbhai Shareez , Charitakis Konstantinos , Marmagkiolis Konstantinos , Lopez-Mattei Juan , Mamas Mamas , Iliescu Cezar 
Published: April 2021

Background: It is unknown to what extent the clinical benefits of PCI outweigh the risks and costs in patients with vs. without cancer and within each cancer type. We performed the first known nationally representative propensity score analysis of PCI mortality and cost among all eligible adult inpatients by cancer and its types.Methods: This multicenter case-control study used machine learning–augmented propensity score–adjusted multivariable regression to assess the above outcomes and disparities using the 2016 nationally representative National Inpatient Sample.Results: Of the 30,195,722 hospitalized patients, 15.43% had a malignancy, 3.84% underwent an inpatient PCI (of whom 11.07% had cancer and 0.07% had metastases), and 2.19% died inpatient. In fully adjusted analyses, PCI vs. medical management significantly reduced mortality for patients overall (among all adult inpatients regardless of cancer status) and specifically for cancer patients (OR 0.82, 95% CI 0.75–0.89; p &lt; 0.001), mainly driven by active vs. prior malignancy, head and neck and hematological malignancies. PCI also significantly reduced cancer patients' total hospitalization costs (beta USD$ −8,668.94, 95% CI −9,553.59 to −7,784.28; p &lt; 0.001) independent of length of stay. There were no significant income or disparities among PCI subjects.Conclusions: Our study suggests among all eligible adult inpatients, PCI does not increase mortality or cost for cancer patients, while there may be particular benefit by cancer type. The presence or history of cancer should not preclude these patients from indicated cardiovascular care.
Preparation and Characterization of Large Grain UO2 for Accident Tolerant Fuel
Authors: Zhong Yi , Gao Rui , Li Bingqing , Yang Zhenliang , Huang Qiqi , Wang Zhiyi , Duan Limei , Liu Xuxu , Chu Mingfu , Zhang Pengcheng , Bai Bin , Wang Yun , Cheng Liang , Yan Biaojie , Liu Tong , Li Rui 
Published: April 2021

Large grain UO2 is considered as an accident tolerant fuel with great application potential due to its competitive advantage of good fission gas retention. In this paper, the influence of preparation parameters such as sintering atmosphere, mixing process, powder pretreatment and grain growth additives on the grain size of UO2 is systematically studied. The result shows that the factors mentioned above have different effects on the grain size of UO2. The grain growth of UO2 pellet sintered in oxidizing atmosphere is better than those in reducing atmosphere. The wet mixing process has a significant advantage over the dry mixing process. In addition, the powder pretreatment has little effect on grain growth while the influence of additives plays the main role. Large grain UO2 pellets with uniform grain size up to 150 μm are successfully prepared. Finally, the thermo-physical properties of the pellets are investigated.
Frequency of Systemic Lupus Erythematosus Was Decreasing Among Hospitalized Patients From 2013 to 2017 in a National Database in China
Authors: Tan Ying , Yu Feng , Long Jianyan , Gan Lanxia , Wang Haibo , Zhang Luxia , Zhao Minghui 
Published: April 2021

Backgrounds: Limited data was reported for the frequency of SLE in China. The aim of this study was to investigate the frequency, geographical, and ethnic distributions of hospitalized SLE patients with data from the Hospital Quality Monitoring System (HQMS) in China.Methods: Hospitalized patients were investigated from a national inpatient database covering 46.0% of tertiary hospitals in China from 2013 to 2017. Data regarding the diagnosis of SLE were extracted based on ICD-10 codes. We collected and analyzed data from the front page of the records of inpatients, including frequency, demographic characteristics, and geographic distributions of SLE.Results: Among 158.3 million inpatients attended during the study period, 0.31% (491, 225) were diagnosed with SLE. The frequency of SLE decreased during the study period (from 0.30% in 2013 to 0.27% in 2017). The frequency of SLE increased with latitude (0.21% in northern China and 0.39% in southern China in 2017). Hospitalizations mostly occurred in winter (31.24%). The Li population had the highest frequency of patients with SLE (0.76%). The all-cause in-hospital mortality rate of SLE decreased from 0.74% (255/34,746) in 2013 to 0.54% (295/54,168) in 2017. The percentage of SLE patients with infections increased from 3.14% in 2013 to 4.72% in 2017. The percentage of SLE patients with tumors and thrombosis also increased slightly from 0.85 and 1.43% in 2013 to 1.27 and 2.45% in 2017, respectively.Conclusion: This study provided epidemiological information of SLE in hospitalized patients in China for the first time. An ethnic and spatial clustering trend of SLE was observed.
Inhibition of Acyl-CoA Synthetase Long-Chain Family Member 4 Facilitates Neurological Recovery After Stroke by Regulation Ferroptosis
Authors: Chen Junmin , Yang Lan , Geng Lianxia , He Junna , Chen Lei , Sun Qian , Zhao Jing , Wang Xiaopeng 
Published: April 2021

BackgroundIschemic stroke is the main cause of disability worldwide, leading to a serious socioeconomic burden. Ferroptosis is a non-apoptotic form of programmed cell death and is related to various diseases. Acyl-CoA synthetase long-chain family member 4 (ACSL4) is considered a target of ferroptosis, but its specific role in ischemic stroke remains unclear. In this study, we investigate whether the inhibition of ACSL4 promotes the recovery of neurological function in a way that prevents ferroptosis.MethodsA transient cerebral ischemia model was established for mice by middle cerebral artery occlusion (MCAO); glutathione peroxidase 4 (GPx4), ACSL4 and cyclooxygenase 2 (COX2) were detected by Western blot, and changes to mitochondria were observed by a transmission electron microscope. A kit was used to determine iron levels and lipid peroxide indicators, such as glutathione peroxidase (GPx), reduced glutathione (GSH), total glutathione/oxidized glutathione (GSH/GSSG), lipid peroxidation, reactive oxygen species, superoxide and malonaldehyde. Following MCAO, a ferroptosis inhibitor, liproxstatin-1, was administered intranasally immediately at a concentration of 10 mg/kg. Rosiglitazone was used to inhibit ACSL4 and was administered intravenously 1 h before MCAO at a concentration of 0.4 mg/kg. Brain injury was determined by neurological deficit scores, neuroscore (28-point), corner test and gait analyses, at 24 and 72 h after stroke. Brain infarct volume was determined by 2, 3, 5-Triphenyltetrazolium chloride (TTC) staining at 72 h after stroke.ResultsAfter MCAO, GPx4 protein expression decreased, ACSL4 and COX2 protein expression increased, GPx activity decreased and iron accumulation. Transmission electron microscopy confirmed that the outer mitochondrial membrane of neurons had ruptured and mitochondrial cristae had decreased or disappeared. Liproxstatin-1 could significantly attenuate the decrease of GPx4 and the increase of COX2 after MCAO, dramatically reducing iron accumulation and decreasing GPx activity, accompanied by a marked reduction in changes in lipid peroxidation indicators. The use of rosiglitazone to inhibit ACSL4 could significantly improve neurological function and reduce the brain infarct volume at 72 h after stroke. Importantly, inhibiting ACSL4 could significantly attenuate the decline of GPx4 after MCAO and markedly attenuate iron accumulation and a decrease in GPx activity. Additionally, changes in lipid peroxidation indicators were also significantly inhibited.ConclusionThis study indicates that inhibiting ACSL4 can promote the recovery of neurological function after stroke by suppression of ferroptosis.
Association Between Kawasaki Disease and Childhood Epilepsy: A Nationwide Cohort Study in Taiwan
Authors: Lin Chien-Heng , Lai Jung-Nien , Lee Inn-Chi , Chou I-Ching , Lin Wei-De , Lin Mei-Chen , Hong Syuan-Yu 
Published: April 2021

Background: Kawasaki disease is a common vasculitis of childhood in East Asia. The complications following Kawasaki disease mostly included cardiovascular sequelae; non-cardiac complications have been reported but less studied. This study investigated potential epilepsy following Kawasaki disease in Taiwanese children.Objectives: Through National Health Insurance Research Database, we retrospectively analyzed the data of children aged &lt;18 years with clinically diagnosed Kawasaki disease from January 1, 2000 to December 31, 2012 in Taiwan. These patients were followed up to estimate the incidence of epilepsy in the Kawasaki cohort in comparison with that in the non-Kawasaki cohort in Taiwan.Results: A total of 8,463 and 33,872 patients in the Kawasaki and non-Kawasaki cohorts were included in the study, respectively. Of the total eligible study subjects, 61.1% were boys and 38.9% were girls; most patients with newly diagnosed Kawasaki disease were aged &lt;5 years [88.1%]. Patients with Kawasaki disease showed a higher incidence rate [47.98 vs. 27.45 every 100,000 person years] and significantly higher risk [adjusted hazard ratio = 1.66, 95% confidence interval = 1.13–2.44] of epilepsy than those without the disease. Additionally, female sex [adjusted hazard ratio = 2.30, 95% confidence interval = 1.31–4.04] and age &lt;5 years [adjusted hazard ratio = 1.82, 95% confidence interval = 1.22–2.72] showed a significantly higher risk of epilepsy in the Kawasaki cohort.Conclusion: Results revealed a higher incidence rate and significant risk of epilepsy in Taiwanese children with Kawasaki disease than in those without the disease. Therefore, children diagnosed with Kawasaki disease are recommended follow-up as they have a high risk of epilepsy and seizure disorders.
Attention-Demanding Cognitive Tasks Worsen Postural Control in Patients With Cervical Dystonia: A Case-Control Study
Authors: Baione Viola , Ferrazzano Gina , Celletti Claudia , De Rosa Matteo , Belvisi Daniele , Fabbrini Giovanni , Galli Manuela , Camerota Filippo , Conte Antonella 
Published: April 2021

Background: Patients with cervical dystonia (CD) show impaired postural control, balance, and gait, likely due to abnormal head postures and sensorimotor disturbances. However, until now no study has investigated whether attention-demanding activity worsens postural control and balance in CD patients.Objective: To investigate whether patients with CD show cognitive-motor interference (CMI), a specific kind of dual-task interference that occurs during the simultaneous execution of a cognitive and motor task. This information may be useful to determine whether performing activities of daily living worsens postural control and balance in CD patients.Methods: We performed a pilot case-control study. Twenty-two patients affected by CD and 19 healthy controls were enrolled in order to test CMI. Each subject was evaluated during the execution of a cognitive task while postural stability was assessed through a stabilometric platform.Results: CD patients showed impaired postural control compared to healthy controls, with instability increasing with increasing cognitive task complexity. No relationships were found between stabilometric parameters and clinical characteristics of CD.Conclusions: Our hypothesis is that CMI in CD patients derives from deranged network connectivity when activated simultaneously during the performance of two tasks that interfere with each other and “compete” for the same resources within the cognitive system.