bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort
Authors: Lengyel Anna , Pinti Éva , Pikó Henriett , Árvai Kristóf , Abonyi Tünde , Némethi Zaránd , Fekete György , Haltrich Irén 
Published: April 2022

Abstract
Background: Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affected individuals, is chromosomal microarray (CMA). However, this methodology is not yet a routine molecular cytogenetic test in many parts of the world, including Hungary. Here we report clinical and genetic data of the first, relatively large Hungarian cohort of patients whose genetic testing included CMA. Methods: Clinical data were retrospectively collected for 89 children who were analyzed using various CMA platforms. Phenotypes of patients with disease-causing variants were compared to patients with negative results using the chi squared/Fisher exact tests. Results: A total of 41 pathogenic CNVs were identified in 36 patients (40.4%). Abnormal height (p=0.0050), short stature (p=0.0250), brain imaging abnormalities (p=0.0277), complicated perinatal adaptation (p=0.0346), postnatal growth delay (0.0387), abnormal weight (p=0.0865), global developmental delay (p=0.0918) and pectus excavatum (p=0.0968) were more likely to be associated with disease-causing CNVs. Conclusions: Our results allow phenotypic expansion of 14q11.2 microdeletions encompassing SUPT16H and CHD8 genes. Variants of unknown significance (n=32) were found in 22 patients. We provide detailed phenotypic and genetic data of these individuals to facilitate future classification efforts, and spotlight two patients with novel potentially pathogenic alterations. Our results contribute to unraveling the diagnostic value of rare CNVs.
Meal replacement as a weight loss strategy for night shift workers with obesity: a protocol for a randomized controlled trial
Authors: Sooriyaarachchi Piumika , Jayawardena Ranil , Pavey Toby , King Neil 
Published: April 2022

Abstract
Background: Shift work is considered a risk factor for a number of chronic health conditions including obesity. Weight reduction in obese patients lowers the risk for cardiovascular disease, diabetes, certain cancers, and mortality. Achieving a negative energy balance by providing low-calorie meal replacements is widely used for weight management. This study aims to evaluate the impact of a low calorie “meal-replacement” on weight and metabolic parameters of shift workers with obesity. Methods: This trial will be conducted in parallel, randomized controlled design for a period of 8 weeks. A total of 44 shift workers with Body Mass Index over 25 kg/m2 will be recruited after assessing eligibility. Participants will be randomly assigned to the test and control groups on a 1:1 ratio. The intervention group (N=22) will be provided with a low calorie (~200 kcal) meal replacement shake as a dinner, and the control group (N=22) will continue their habitual diets. The visits and the evaluations will be done as follows: screening (visit 0), 4 weeks (visit 1), and 8 weeks (visit 2). Anthropometric measurements will be taken at 0, 4 and 8 weeks. Body composition, biochemical parameters, dietary intake and physical activity will be assessed during the first and the last visit. Outcomes: The primary outcome will be body weight loss, and the proportion of participants that had a 5% body weight loss from baseline. The secondary outcomes will be post intervention changes in the other metabolic parameters. Discussion: To our knowledge this is one of the first randomized controlled trials evaluating the effects of a meal replacement as the night meal for weight loss in shift worker with obesity. Moreover, improvement of metabolic parameters in shift-workers will be an added benefit to this high risk group. Trial registration: Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12622000231741. Registered on 09 February 2022. https://www.anzctr.org.au/ACTRN12622000231741.aspx
Patient Adherence to Oral Anticancer Agents
Authors: KAZAZ SEHER NAZLI , YILDIRIM ATİLA 
Published: April 2022

Abstract
Purpose: The aim of the study was to measure the adherence to oral anticancer treatments in cancer patients using the Modified Morisky Scale (Modified Medication Adherence Scale-6, MMAS-6) which has been shown to be valid and reliable in Turkish.Methods: This study was an observational, single-center study involving 300 cancer patients using various oral anticancer agents admitted to our outpatient clinic. Motivation and knowledge scores were calculated according to the MMAS-6.Results: 71.3% of the patients had high motivation level, 28.7% had low motivation level, 68.7% had high knowledge level and 31.3% of the patients had low level of knowledge. The motivation and knowledge levels of the population under 65 years of age were found to be significantly higher than the geriatric population (≥ 65 years old) (p< 0.003 and p<0.001, respectively). It was observed that the patients with higher education levels had significantly higher motivation and knowledge levels (p<0.0001 for both). There was no correlation between the motivation and knowledge levels of the patients with gender, marital status, living status and stage of the disease (p>0.05). In addition, the duration of drug use >12 months and the cyclical use of drugs were also found to be significantly associated with increased motivation and knowledge levels.Conclusion: Identifying adherence and related factors, informing patients in detail about the efficacy and toxicity of treatments are the simplest and most basic methods. Particular attention should be paid to patients aged >65 years, patients with a low level of education and patients in the earlier stages of their treatments.
Where is my footprint located? Estimating the geographical variance of Hybrid-LCA footprints
Authors: Jakobs Arthur , Schulte Simon , Pauliuk Stefan 
Published: April 2022

Abstract

Hybrid- Life Cycle Assessments (LCA) mostly fails to fully exploit valuable information from Multi-Regional Input-Output (MRIO) models by aggregating regional supply chains to the lower geographical resolution of process LCA databases. We propose a method for sampling the various individual regions within the aggregated regional scope of LCA processes. This sampling not only maximises the information content of the hybrid LCA footprint results by preserving the regional variance, it also allows for using regional price distributions form BACI/UN-COMTRADE international trade statistics to simultaneously improve the accuracy of the hybrid model. In this work we analyse the impact of regional variance and the use of regional price distributions on the uncertainty of the hybrid footprint results for both the carbon (GWP100) and land use footprint and compare this to the variance resulting from price variance only and regional variance only. We find that the median process footprint intensity increases by 7 +18 − 3 % for the GWP100 due to hybridisation, and 90 +143 − 23 % for the Land Use footprint. Our results also show that the magnitude of the footprint uncertainty strongly depends on the product sector of the LCA process and environmental impact considered. Additionally, we illustrate the effect of regional variance and price distributions on a consumption footprint using a case study of Swiss household consumption. Here the truncation error estimates are 8 . 4 +9 . 2 − 2 . 7 % for the GWP100 and 36 +64-14 % for the land use footprint. The relative uncertainties of the truncation error correction are very high (110-178% for the upper limits) moreover the have a strong positive skew. Our results highlight the importance of regionalisation of process LCA databases, as it has the potential to significantly improve both the precision and accuracy of hybrid LCA models.
Long-term Physical Activity Decreased the Risk of New-onset Hypertension in Type 2 Diabetes Mellitus Patients with Pre-hypertension: A Retrospective Cohort Study
Authors: Zhou Jianmei , Lv Xiaoling , Zhou Rongfang , Wang Bozhong , Wu Qing 
Published: April 2022

Abstract
Background Numerous studies were demonstrated the inverse relationship between all kinds of physical activity (PA) and cardiovascular diseases (CVDs), few of them focus on the new-onset hypertension. Therefore, this study was aimed to determine the impact of long-term PA on the risk of new-onset hypertension in type 2 diabetes mellitus (T2DM) patients with pre-hypertension.Methods A total of 268 T2DM patients with pre-hypertension were recruited between January and December 2015, and followed them up until December 2020. All patients were took PA self-assessment. Demographic, clinical, laboratory, radiologic, treatments, complications, lifestyle and clinical outcomes data were extracted from electronic medical records or collected through a structured interview.Results During 5 year follow-up, the incidence of new-onset hypertension was significantly lower in PA group (15.5% vs 35.4%, p<0.01) when compared to the physical inactivity (PIA) group. Logistic regression analysis showed that PA (OR 0.337, 95%CI 0.168 to 0.677, p<0.01), body mass index (BMI) (OR 1.138, 95%CI 1.019 to 1.272, p<0.05) and glycosylated hemoglobin (HbA1C) (OR 1.206, 95%CI 1.006 to 1.446, p<0.05) were associated to the incidence of new-onset hypertension in pre-hypertensive T2DM patients. Subgroup analysis found that for those overweight and poorly controlled pre-hypertensive T2DM patients, long-term PA were less likely to develop hypertension (overweight: OR 0.187, 95%CI 0.063 to 0.558, p<0.01; glycaemic glucose poor controlled: OR 0.349, 95%CI 0.138 to 0.880, p<0.05).Conclusion These results suggested that long-term PA might be an important protective factor for new-onset hypertension in overweight and poor blood glycaemic controlled pre-hypertensive T2DM patients.
Gender-specific effects of prenatal mixed exposure to multiple serum phthalates on neurodevelopment of children aged 2-3 years ： the Guangxi Birth Cohort Study
Authors: Yang Xiao Bo , Zheng Yuan , Li Longman , Cheng Hong , Huang Shengzhu , Feng Xiuming , Huang Lulu , Wei Luyun , Cao Dehao , Wang Sida , Tian Long , Tang Weijun , He Caitong , Shen Chunhua , Luo Bangzhu , Zhu Maoling , Liang Tao , Pang Baohong , Li Mujun , Liu Chaoqun , Chen Xing , Wang Fei , Mo Zengnan 
Published: April 2022

Abstract
Phthalates have been shown to have adverse effects on neurodevelopment, which may be gender-specific. However, the association between prenatal mixed exposure to phthalates and children's neurodevelopment remain limited. We measured prenatal phthalate levels and children's neurodevelopment. Logistic regression was fitted to examine the association. Among boys, mono-2-ethyl-5-hydroxyhexyl phthalate (MEHHP) has adverse effects on gross motor (OR: 7.39, 95% CI:1.42, 38.5). For gross motor in boys, joint effect was discovered between mono-2-ethylhexyl phthalate (MEHP) and MEHHP. Moreover, synergistic effects were found for MEHP with vanadium and cadmium, and antagonistic effects for MEHP with magnesium, calcium, titanium, iron, copper, selenium, rubidium and strontium. We did not find statistically significant relationships in girls. In the 1st trimester, adverse effects were identified between mono-2-ethyl-5-oxoyhexyl phthalate (MEOHP) and adaptation ( P = 0.024), and monomethyl phthalate (MMP) with social area ( P = 0.016). In the 2nd trimester, the risk of social development increased with MEHHP. In summary, we found boys may be more vulnerable to the neurotoxicity than girls in gross motor, and the 1st and 2nd trimester might be more sensitive in terms of phthalates on children. To some extent, supplementation of the appropriate metals in the 1st trimester may reduce or inhibit the absorption of phthalates by the foetus, especially in males, so as to prevent neurodevelopmental impairment.
The effect of time regime in noise exposure on the auditory system and behavioural stress in the zebrafish
Authors: WONG Man Ieng , LAU Ieng Hou , GORDILLO-MARTINEZ Flora , VASCONCELOS Raquel O. 
Published: April 2022

Abstract
Anthropogenic noise of variable temporal patterns is increasing in aquatic ecosystems, causing auditory impairment and physiological stress with consequences for species sensory adaptation and survival. However, scarce information exists on exposure effects to continuous and intermittent acoustic disturbances, which is critical for noise management. We tested the effects of different noise temporal regimes on the auditory system and behavioural stress in the zebrafish (Danio rerio).Adult zebrafish were exposed for 24 h to either white noise treatments (150 ± 10 dB re 1μPa) or silent control conditions. Acoustic playbacks varied in temporal patterns: continuous, fast and slow regular intermittent, and irregular intermittent. Auditory sensitivity was assessed with Auditory Evoked Potential recordings, revealing hearing loss and increased response latency in all noise-treated groups but higher threshold shifts in continuous and fast regular intermittent treatments. Inner ear saccule analysis did not reveal significant hair cell loss but a decrease in presynaptic activity with the continuous noise. Specimens were further tested using the Novel Tank Diving assay, which revealed noise-induced behavioral stress in all noise treatments.We provide first data on how different noise time regimes impact the auditory system of a fish, suggesting that overall acoustic energy is more important than regularity when predicting noise effects. Moreover, we show that exposure to moderate noise levels causes anxiety-related behavior in a reference species.
The Use of Phosphorescence Oxygen Analyzer to Measure Cellular Respiration in Thymic Fragments from Mice
Authors: Alshamsi Mariam , Hassane Maya , Almarzooqi Farida , Souid Abdul-Kader 
Published: April 2022

Abstract
Background. This report aims to detail the use of phosphorescence oxygen analyzer for in vitro investigation of the thymic response to pharmaceutical agents, in particular immunosuppressants and immunomodulators. Sirolimus (a highly specific inhibitor of the ‘molecular target of rapamycin’, mTOR) and ozanimod (an agonist of the sphingosine 1-phosphate receptor, a recently approved drug for treatment of multiple sclerosis and ulcerative colitis) were investigated for this purpose. The detection method in this prescribed analytical instrument is based on the principle that oxygen quenches the phosphorescence of Pd(II) meso-tetra (sulfophenyl) tetrabenzoporphyrin. Methods. Thymic fragments from mice were placed in vials containing 2.0 mL phosphate-buffered saline, 0.5% fat-free bovine albumin, and 3 µM Pd phosphor (with or without added glucose). The vials were then sealed from air and their dissolved oxygen concentration was monitored at 25oC as a function of time. Results. The kinetics of oxygen consumption was zero-order; thus, its rate (in µM O2 min-1) was the negative of d[O2]/dt. The addition of cyanide inhibited respiration, confirming oxygen was consumed in cytochrome oxidase of the mitochondrial respiratory chain. In age-matched mice, the rate of thymocyte (cellular) respiration (mean ± SD, in µM O2 min-1 mg-1) was 0.046 ± 0.011 (median = 0.043, range = 0.028 to 0.062, n = 10). In thymic fragments from littermates, this rate was inhibited in the presence of sirolimus (16% lower) or ozanimod (29% lower). Conclusions. Respiration can serve as a surrogate biomarker for studying the mode-of-action and cytotoxicity of immunotoxins and immunosuppressants in thymic fragments collected from mice.
Morphological analysis and measurement of ulnar nerve sulcus: a study by 3D CT reconstruction
Authors: Li Ming-bo , Yu Ze-yun , Zhang Jian-hao , Xu Da-hong , Zheng Hai-xia 
Published: April 2022

Abstract
Objective: To observe the anatomical structure of ulnar nerve sulcus of the normal adult elbow joint by 3D computerized tomography (CT) reconstruction technique, and to provide reference for clinical assessment of the risk of ulnar nerve entrapment, treatment of Cubital tunnel syndrome (CuTS) and surgical operation of the elbow canal according to the type, Methods: 308 cases of normal adult elbow joint were reconstructed by CT, and classified according to the anatomical shape of ulnar nerve sulcus, the relevant anatomical structures of the ulnar nerve were measured,AB, AC, BC, AD, AE, AF, AG and cross-sectional area were measured, and the measurement results were analyzed and recorded. Results: (1) the ulnar nerve sulcus can be divided into three morphologic types: hook-type (18.19%), L-type (37.66%) and arc-type (44.15%), L- type and arc- type are the most common. Comparing the three types: Hook-type was the narrowest (13.42±2.09mm) and deepest (6.04±1.01mm), which was prone to make ulnar nerve entrapment; and arc-type was relatively wider (16.61±1.95mm) and shallower (4.58±0.72mm), which may be prone to make ulnar nerve dislocation. (2) There were no significant differences in AB, AC, AD, BC, AE, AF, AG and cross-sectional area between the left and right elbow joint. (3) AC, BC, AE, AF, AG and cross-sectional area data of male were significantly higher than that of female, but AB and AD had no significant difference. Conclusion: The measurement of the morphological and anatomical features of ulnar nerve sulcus by 3D CT reconstruction imaging is helpful for evaluating the risk of ulnar nerve entrapment and provides anatomical guidance for clinical cubital canal surgery.
What are Good Urban System Structures in Sparsely Populated Areas —Case Study of the Qinghai-Tibet Plateau in China
Authors: Shao Xuanxuan , Yao Yongling 
Published: April 2022

Abstract
Urbanization in sparsely populated areas is critical for sustainability. The Qinghai-Tibet Plateau is a typical example of an ecologically fragile region that plays a crucial role in China’s ecological safety and water resource protection. We use a social network analysis to illustrate the structure of the urban system on the plateau and find that the agglomeration and diffusion capabilities of the core nodes are weak, which presents an obstacle to the sustainable development of the urban system. Nevertheless, we find that the intermediate nodes—which serve multiple integration functions for the various cultures, ethnic groups, and religions in the region—are core nodes that divide the dispersed cities and towns into four subgroups that function as small worlds (There are closed relations between cities and towns within subgroups just like their own small worlds, also called cohesive subgroups in Social Network Analysis). Based on this finding, we suggest implementing a ‘double-layer’ urban system to promote the sustainable urban development of the Qinghai-Tibet Plateau. This ‘double-layer’ system breaks the usual urbanization trend, in which cities grow in size and their distribution becomes more concentrated; instead it provides a feasible way to maintain urban sustainability in a sparsely populated area.
The Effects of Torsion on Horizontal Fusion and Stereopsis
Authors: Feng Tongzhu , Li Yueping , Zhang Wei 
Published: April 2022

Abstract
Objective: To investigate the effects of the ocular torsion on horizontal fusion and stereopsis in normal adults and to probe the effects of the torsion on peripheral fusion, macular fusion and foveal fusion.Methods: Twenty-five normal adults aged 30-38 years were enrolled in this study. Using synoptophore test, the break points (BP) and recovery points (RP) of convergent fusion (CF) and divergent fusion (DF) and random-dots stereopsis (RDS) were measured and analyzed at objective intorsion and extorsion 3 °\5 °\ 7 °\9 °. According to the different sizes of the retinal areas simulated by the synoptophore slides, the fusional functions are divided into three categories: peripheral fusion (p-F), macular fusion (m-F) and foveal fusion (f-F). The p-F, m-F and f-F were analyzed and compared at the same torsional angle. Results: For p-F, BPCF, RPCF, BPDF and RPDF decreased at objective extorsion and intorsion 5 °, 7 ° and 9 °, compared with those without objective torsion (P < 0.05). For m-F, the BPCF, RPCF, and BPDF at intorsion and extorsion 7 ° and RPDF at intorsion and extorsiont 9 ° decreased significantly, compared with those without objective rotation (P<0.05). For f-F, the BPCF and RPCF at extorsion 7 ° and 9 ° decreased significantly (P<0.05). Comparing among p-F, m-F and f-F, there were significant differences in BPCF at intorsion 3 °, extorsion3 ° and no torsion and in RPCF at extorsion 3 °. RDS was gradually damaged with increasing torsion (Spearman correlation, P = 0.018). Conclusions: The ocular torsion in the normal range of cyclofusion affects the horizontal fusion and stereopsis. Torsion≥5 ° could decrease peripheral fusion and torsion≥7 ° could decrease macular fusion and foveal fusion.
Circuit implementation of the globally optimized HHL algorithm and experiments on qiskit
Authors: Zhang Meng , Dong Lihua , Zeng Yong , Cao Ning 
Published: April 2022

Abstract
In 2019, Yonghae Lee et al. combined the circuit implementation of the HHL quantum algorithm with a classical computer, and designed a hybrid HHL quantum circuit optimization algorithm to reduce experimental errors caused by decoherence and so on. However, the optimization is achieved only in the auxiliary quantum coding phase, and no quantum resource reduction is done on the quantum phase estimation and inverse quantum phase estimation stages. At the same time, the circuit optimization illustration on the 2th-order linear equation system just has the result and no specific process. In this paper, based on the idea of the hybrid HHL algorithm and the general quantum circuit implementation framework of HHL, a global optimization HHL algorithm is proposed. The feasibility of the global optimization HHL algorithm is verified by IBM's qiskit. The detail circuit optimization illustrations on the 4th-order linear equations show that the global optimization HHL algorithm can effectively reduce quantum resources without losing the fidelity of the results. Thus the global optimization HHL algorithm can further avoid some result errors than the existing implementation methods.
Semantic and syntactic information processing during auditory language comprehension: A spectral stereo-EEG approach
Authors: Tiali Samuel El Bouzaïdi , Vidal Juan R. , Cousin Emilie , Kahane Philippe , Minotti Lorella , Lachaux Jean-Philippe , Perrone-Bertolotti Marcela 
Published: April 2022

Abstract
There is no consensus regarding clear-cut brain functional dissociations of semantic and syntactic information processing networks. Recent studies proposed a functional dissociation at the spectral level in which semantic and syntactic processes were associated with neural network activity at different frequency intervals. This study aimed at investigating this functional dissociation for semantic and syntactic information during auditory language comprehension. For this purpose, we collaborated with 11 drug-resistant epilepsy patients undergoing deep electrode implantation brain recordings. Patients were instructed to listen to four different types of auditory stimuli (in which semantic and syntactic information were manipulated): sentences, jabberwockys, word lists, and pseudoword lists. Results showed no clear dissociation between semantic and syntactic processing in the left language canonical network. In the temporo-parietal regions two distinct subnetworks, each with its own spectral signature, were observed. Semantic information processing appeared to elicit stronger high frequency activity in the temporal pole, while syntactic information processing elicited low frequency activity increases in the middle temporal as well as the supramarginal gyri. Interestingly, a specific spectral functional dissociation in the pars triangularis was observed suggesting that a single region could support both functional processes within distinct neural frequency intervals.