bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: Evidence supporting whole exome sequencing as first tier test
Authors: Sheth Frenny , Shah Jhanvi , Jain Deepika , Shah Siddharth , Patel Harshkumar , Patel Ketan , Solanki Dhaval I , Iyer Anand S , Menghani Bhargavi , Mhatre Priti , Mehta Sanjiv , Bajaj Shruti , Patel Vishal , Pandya Manoj , Dhami Deepak , Patel Darshan , Sheth Jayesh , Sheth Harsh 
Published: May 2023

Abstract
Background:
Autism spectrum disorder (ASD) affects 1 in 100 children globally with a rapidly increasing prevalence. To the best of our knowledge, no data exists on the genetic architecture of ASD in India. This study aimed to identify the genetic architecture of ASD in India and to assess the use of whole exome sequencing (WES) as a first-tier test instead of chromosomal microarray (CMA) for genetic diagnosis.
Methods:
Between 2020 to 2022, 101 patient-parent trios of Indian origin diagnosed with ASD according to the Diagnostic and Statistical Manual, 5th edition, were recruited. All probands underwent a sequential genetic testing pathway consisting of karyotyping, Fragile-X testing (in male probands only), CMA and WES. Candidate variant validation and parental segregation analysis was performed using orthogonal methods.
Results: Of 101 trios, 3 (2.9%) and 30 (29.7%) trios received a confirmed genetic diagnosis from CMA and WES, respectively. Amongst diagnosis from WES, SNVs were detected in 27 cases (90%) and CNVs in 3 cases (10%), including the 3 CNVs detected from CMA. Segregation analysis showed 66.6% (n=3 for CNVs and n=17 for SNVs) and 16.6% (n=5) of the cases had de novo and recessive variants respectively, which is in concordance with the distribution of variant types and mode of inheritance observed in ASD patients of non-Hispanic white/ European ethnicity. MECP2 gene was the most recurrently mutated gene (n=6; 20%) in the present cohort. Majority of the detected genes are involved in synaptic formation, transcription and its regulation, ubiquitination and chromatin remodeling.
Limitations: There is a possibility of ascertainment bias related to probands primarily having non-syndromic form of ASD. Furthermore, it needs to be considered that CMA and WES was carried out in the proband only, therefore, detailed assessment of all potential de novo variants couldn’t be carried out.
Conclusions: Our study suggests de novo variants as a major cause of ASD in the Indian population. Furthermore, we provide evidence of a significant difference in the diagnostic yield between CMA (3%) and WES (30%) which supports the implementation of WES as a first-tier test for genetic diagnosis of ASD in India.
Enumeration of Sigle Point Derivatives of Fullerene
Authors: Horai Hisayuki 
Published: May 2023

Abstract
This paper reports an analysis of the symmetry of (C60-Ih)[5, 6]Fullerene, so-called 'buchminsterfullerene' or 'fullerene' in short and the enumeration of the compounds derived from a fullerene such as heterofullerene, hydrofullerene, hydoxyfullerane and so on. A fullerene has Ih symmetry so that it has thirty-one axes of rotation and fifteen planes of reflection. It follows that a fullerene has the identity operation, fifty-nine rotation symmetry operations, fifteen reflection symmetry operations and forty-five rotoreflection symmetry operations. For each operation, we represent it as a permutation on positions of sixty carbon atoms, decompose the permutation to a set of cycles and have a cycle index. These operations form a permutation group as well as the identity operation and the rotation symmetry operations form a (sub)group. The former group corresponds to stereoisomers and the latter one corresponds to structural isomers. By Pólya-Redfield theorem, we have a generating function for each group. By means of the generating functions, we finally have the number of the structural and stereoisomers of fullerene derivatives.
Object Detection in Enhanced Drone Imagery using Extended ESRGAN with SSD
Authors: Subiksha P , Pattabiraman V , Jaincy D E Martina 
Published: May 2023

Abstract
Image enhancement and detection have achieved great attention in the field of deep learning. Image quality tops the list to the viewers because if the quality of an image is not satisfied by the consumer then the other features like cost, and warranty becomes less important. IQA is crucial to make sure that the image is free from distortions so that the objects in the image can be identified clearly. This study aims to predict objects in images captured by drones. But these images contain some degradation as it is captured at flight altitudes. An Extended ESRGAN algorithm has been proposed for enhancement. The spatial resolution of the image is stabilized using a Bi-linear interpolation algorithm. Furthermore, perceptual metrics which include SSIM, RMSE, and PSNR are computed to show that the proposed methodology gives better results in terms of image quality. After obtaining a high-resolution image from a low-resolution image using a Super resolution algorithm, Objects in the processed image are identified using DL and OpenCV. Single shot Detector has been utilized to detect the objects so that it will be helpful for the military to track the movements of enemies. This process has been implemented for normal images as well to prove that the proposed system gives good results in terms of enhancement and detection. In addition, a comparison between existing models and the proposed model has been performed. Results showed that the accuracy score of object prediction using SSD was 79% whereas with YOLOv5 it was only 68%.
Growth performance, nutrient digestibility, fecal microbial diversity and volatile fatty acid, and blood biochemical indices of suckling donkeys fed multienzyme-supplemented diets
Authors: Li Chao , Li Xuan Yue , Li Xiao Bin , Ma Chen , Chen Hui , Yang Fan , Zang Chang Jiang 
Published: May 2023

Abstract
Background Roughage and concentrate supplement contain large amounts of soluble non-starch polysaccharides (NSP). They not only reduce nutrient digestibility but also induce indigestibility in livestock. Moreover, starch particles embedded in the cereal protein matrix are not easily decomposed by starch-degrading enzymes. Glyanase, β-mannanase, β-glucanase, cellulase, protease, and amylase added to cereal diets can alleviate the adverse effects of NSP and cellulose. The current study determined the effects of adding glyanase, β-mannanase, β-glucanase, cellulase, protease, and amylase to the diet of 2-month-old suckling donkeys on their growth performance, apparent nutrient digestibility, fecal VFA and pH, fecal bacterial composition, and blood biochemical indices.Results On day 120 of the trial, fecal samples were collected from the rectum of donkeys for determining bacterial diversity, VFA content, and pH. Moreover, fresh fecal samples were collected from each donkey on days 110 and 115 to determine apparent digestibility. The multienzymes did not affect growth performance (P > 0.05) and apparent nutrient digestibility (P > 0.05) in the donkeys; however, they tended to increase (P = 0.0544) total height gain. At the study end, multienzymes increased (P < 0.05 or P < 0.01) the Observed species, ACE, Chao1, and Shannon indices by 10.56%, and 10.49%, 10.47%, and 5.01%, respectively. The multienzymes also increased (P < 0.05 or P < 0.01) the abundance of Firmicutes, Oscillospiraceae, Lachnospiraceae, Christensenellaceae, Christensenellaceae_R-7_group, and Streptococcus in feces and decreased (P = 0.0086) the abundance of Proteobacteria.Conclusions Conclusively, a multienzyme-supplemented basal diet for suckling donkeys can improve their total height gain and increase fecal microbial diversity and abundance.
Pesticides Handling, Risk Management and Estimation of Exposure Levels in Potato Farming Under Small Scale Production
Authors: Kilonzi Jackson , Nyongesa Moses , Nganga Nancy 
Published: May 2023

Abstract
Management of biotic stresses in agriculture solely depends on the use of pesticides globally. Little is currently known on the health risks attributed to pesticides in potato farming in Kenya. The level of exposure and safety precautions adopted by operators to avoid hazards attributed to handling of chemicals and develop an easy to use model of exposure in potato farming was investigated. A total of 197 potato farmers from Nyandarua County in Kenya were interviewed using a structured questionnaire. Data on pesticides handling parameters were collected. Results revealed that, most hazardous chemical (WHO class III) were highly (75%) used, whilst biologicals were unfamiliar to farmers. Majority of farmers were in agreement that, pesticides posed health risks (85%) and (90%) environmental impairment. Only 46% of the farmers were aware of pesticides safety, while 36% used personal protective equipments (PPEs) when handling pesticides. In addition, the percentage of farmers who could read and understand chemical label was 30%. Trained and educated farmers were more likely to follow pesticides safety precautions (88%). Poor disposal of chemical leftovers and empty containers was evident whereas most farmers (86%) had no standard storage facility for pesticides. Lack of training (70%) was pointed out as the major constrain. Merely, 10% experienced self-reported symptoms of acute poisoning. Estimation of exposure elucidated that, potato growers are at high risk to metalaxyl and mancozeb exposure. Therefore multi-institutional interventions would be crucial in providing sustainable solutions.
Fever in the initial stage of IIM patients: an early clinical warning sign for AE-ILD
Authors: Liu Ting , Chen Haifeng , Shi Yitian , Xu Wei , yuan fenghong 
Published: May 2023

Abstract
Background
Fever is a common symptom of Idiopathic inflammatory myopathies (IIM). However, the exact correlation between fever and the prognosis of IIM is still unclear. This study aims to clarify if the IIM patients initiated with fever are associated with poorer outcomes.
Methods
This was a single-center retrospective cohort study. Data were collected from 79 newly diagnosed, treatment-naive IIM patients in the Affiliated Wuxi People's Hospital of Nanjing Medical University (Wuxi, Jiangsu, China) from November 2016 to June 2020. According to the presence or absence of fever at the onset, the IIM patients were divided into two groups(fever group n=28, without fever group n=51) Clinical characteristics, laboratory data, treatment, and outcomes were recorded. The Kaplan-Meier and log-rank tests were used to compare the all-cause mortality, relapse rate, and acute exacerbation of interstitial lung disease (AE-ILD) incidence. The association of fever with the outcomes was assessed in the unadjusted and adjusted forward logistic regression model.
Results
Compared with the non-fever group, the age at onset of the fever group was higher, and mechanic's hands (MH) and interstitial lung disease (ILD) were more common. Systemic inflammation (CRP and ESR) was significantly higher in the fever group, while the level of albumin(ALB) and muscle enzymes were lower. The fever group seemed to be received more aggressive treatment, with higher dose glucocorticoids and higher rates of intravenous immunoglobulins(IVIG) use. The all-cause mortality rate and the incidence rate of AE-ILD were higher in the fever group. Even adjusted for the age at onset and treatments, fever was significantly associated with AE-ILD and all-cause mortality.
Conclusion
Our study has demonstrated that fever at initial diagnosis is associated with AE-ILD and mortality. Fever should serve as an early clinical warning sign for poor outcomes in IIM patients.
Nonlinear dynamics of the Trappist-1-Trappist-1e exoplanetary system
Authors: Hysa Azem 
Published: May 2023

Abstract
I addition to the various methods on the study of exoplanetary systems, the case of the circular restricted three body problem can be used, among others, to determine the character of the orbits of an astronomical body which moves under the action of the gravitational field of two massive bodies such as star-planets or binary star systems. In this paper we will first present some general information on the Trappist-1 exoplanetary system. Then we will determine the position of the Lagrange points for the Trappist-1-Trappist-1e system as well as the values of the Jacoby constant for each positions of the Lagrange points. We will than construct trajectories for zero velocity, studying the motion of a particle in this system. Also, in this paper we will try to do a numerical analysis on the phase plane for different initial conditions, building in MATLAB® 2020, different orbits for the exoplanetary system Trappist-1-Trappist-1e, distinguishing between the types of body motion of the third body in this exoplanetary system. So, for this we will perform some numerical experiments in MATLAB® 2020. Finaly, we will also study the possibility of the existence of an exomoon in this very impressive exoplanetary system.
Development of A Fluorescence Polarization Assay for High- Throughput Screening of Inhibitors against HIV-1 Nef-Mediated CD4 Downregulation
Authors: Shamsabadi Mohammad Karimian , Jia Xiaofei 
Published: May 2023

Abstract
Therapeutic inhibition of the viral protein Nef is an intriguing direction of antiretroviral drug discovery as it may revitalize immune mechanisms to target, and potentially clear, HIV-1-infected cells. Of the many cellular functions of Nef, the most conserved is downregulation of surface CD4, which takes place through Nef hijacking the clathrin adaptor protein complex 2 (AP2)-dependent endocytosis. Our recent crystal structure has unraveled the molecular details of this interaction. Guided by the new structural knowledge, we have developed a fluorescence polarization-based assay for inhibitor screening against Nef’s activity on CD4. In our assay, AP2 is included along with Nef to ensure the proper formation of the CD4-binding pocket, and a fluorophore labeled CD4 cytoplasmic tail binds competently to the Nef-AP2 complex. The optimized assay has a good signal-to-noise ratio, excellent tolerance of DMSO and detergent, and the ability to detect competitive inhibition, making it suitable for high-throughput screening.
Supporting Underrepresented Students in Health Sciences: Using a Fuzzy Cognitive Mapping Approach
Authors: Chiang Danielle F. , Guerrero Scott A. , Sexton Emma C. 
Published: May 2023

Abstract
Background: The Students in Training in Academia, Health, and Research (STAHR) Program at the University of Missouri-Kansas City (UMKC) strives to increase the number of students from low-income families that have experienced educational challenges due to poverty who are prepared to enter, persist, and graduate from a health sciences degree program at UMKC. Students in the program participated in fuzzy cognitive mapping (FCM) sessions to ensure that all voices of the program were heard to improve program implementation, student success, and contribute to an equitable educational environment.
Methods: Fuzzy Cognitive Mapping sessions for the 2020-2021 cohort of students (n=52) were conducted to assess the strengths and weaknesses in program implementation, especially through the beginning of the COVID-19 pandemic. Students’ maps were coded by a team of researchers and then confirmed using confirmatory factor analysis.
Results: Statistical analyses reveal that mentorship, workshops, and social supports helped students to work toward their goal of obtaining a professional health sciences degree, while a lack of time, remote learning, and outside stressors inhibited their opportunities for success.
Conclusions: The findings from mixed methods analyses of mapping data demonstrate the value of this innovative approach to the field, especially when looking to incorporate student voice.
Morphometrics of T11-L5 vertebrae in Jordanian population: CT scan-based Study
Authors: AL-Mousa Alaa , Alia Luay Abu , Elhaj Ibrahim , Aldarawi Yazan 
Published: May 2023

Abstract
Objective: The study will provide information on the morphometrics of the vertebrae, which can be used to guide clinicians on the appropriate size of transpedicular screws to use in spine interventions among the Jordanian population and for comparative studies with other races.Methods: A retrospective analysis of normal CT scans of the lumbar and thoracolumbar areas was done. Linear and angular measurements of 336 vertebrae were collected for 25 males and 23 females. The results were compared between right and left and between both sexes.Results The L5 has the longest AVBH and the shortest PVBH in both sexes, it also, had the shortest and widest pedicle in both males and females. ratio of the AVBH to PVBH showed progressive increase in both sexes from T11 to L5. Similarly, the VBW increased progressively from the top to the bottom in both sexes, but it was significantly different between both sexes. The L1 was the most cranially oriented vertebrae in males while the L2 showed the most cranial orientation in females. Both sexes L5 was the most caudally oriented vertebrae.Conclusion: This study provides a database for vertebral morphometrics in the Jordanian population, there are slight differences between the right and left side in the upper studied vertebrae (T11-L2) and some measurement showed significant differences between males and females. These findings need to be taken into consideration when inserting pedicle screws.
Increasing Rates of Herpes Zoster Ophthalmicus and the COVID-19 Pandemic
Authors: Snyder Alexander J. , Mousa Hazem M. , Soifer Matias , Jammal Alessandro A , Aggarwal Sahil , Perez Victor L. 
Published: May 2023

Abstract
Purpose This epidemiologic study evaluates the variance in incidence of Herpes Zoster (HZ) and Herpes Zoster Ophthalmicus (HZO) within a single healthcare system with an aim to analyze their relationship to the COVID-19 pandemic.Methods All patients attending the Duke University Health System (DUHS) from January 1, 2018, to December 31, 2021, were included. General and COVID-related trends of HZO and HZ were analyzed based on new ICD-9 or ICD-10 diagnosis codes, compared with the total number of patients seen at DUHS during this period, and the number of reported COVID-19 cases in North Carolina obtained using the CDC data tracker.Results This study included 16,287 cases of HZ of whom 1,294 (7.94%) presented with HZO. The overall incidence of HZO showed an average yearly increase of 5.6%, however HZ incidence decreased by 5.3% per year. When comparing incidence rates of HZO in the 12-months before and after the COVID-19 pandemic onset in the United States (March 2020), the average incidence from March 2020 to February 2021 was 27.6 ± 11.6 compared to 18.0 ± 2.7 from March 2019 to February 2020 (p = 0.01). Moreover, 10/12 (83.3%) of the months had a higher incidence rate of HZO in the post-COVID onset year compared to their corresponding month in the pre-COVID year.Conclusion The results show HZO incidence may be increasing, despite an overall lower HZ incidence. This could suggest a distinct mechanism for HZO appearance. The COVID pandemic, directly or indirectly, may have accelerated the already increasing HZO incidence.
GPR68 activated transmembrane to cytosol growth-based visual learning based on Prefrontal Cortex big data
Authors: Wang Lin , Hong Tao , Cui Wenbin , Jiang MingHu 
Published: May 2023

Abstract
G protein-coupled receptor (GPR68) is widely distributed in the human body and participates in various physiological and pathological processes. The main GPR68-activated and -inhibited molecular network was constructed in Prefrontal Cortex by integrating SAM, SPSS Pearson and GRNInfer mutual positive verification based on richness. The main GPR68 activated molecular subnetwork composed of upstream KCNKpotassium ion transmembrane transport, feedback MAP1B_2-cytosol microtubule binding, and downstream NDRG4-cytosol growth-based visual learning in Prefrontal Cortex. The main GPR68 inhibited subnetwork included upstream PKP4 with TMEM63A-extracellular exosome nucleotide binding in Prefrontal Cortex by DAVID. The relationship of PKP4 activation to TMEM63A was found in Prefrontal Cortex for positive main molecular verification. The relationship of NDRG4 inhibition to TMEM63A -> KCNK1 -> PKP4 in Prefrontal Cortex for negative main molecular verification. The main GPR68-activated and -inhibited model was positive verified by the corresponding other similar and common knowledge. We put forwards the model in Prefrontal Cortex that GPR68 activated cytosol microtubule binding coupling potassium ion transmembrane transport to cytosol growth-based visual learning with 18-inhibited model for mutual negative knowledge verification. The role and mechanism of GPR68 activated transmembrane to cytosol growth-based visual learning based on Prefrontal Cortex big data contribute to better detection, evaluation, intervention, tracking, and other health management of brain diseases.
Real-Time Deployment of Machine Learning-Based Audio Analysis Systems for Suspicious Message Detection
Authors: Hussain Syed , S Pakkir Mohideen 
Published: May 2023

Abstract
In recent years, the proliferation of digital communication has made it easier for individuals to transmit audio messages in a variety of contexts. While this has facilitated many positive aspects of communication, it has also created new challenges for detecting suspicious activity that may pose a threat to security or privacy[1]. In response to these challenges, researchers have proposed various approaches to detect suspicious audio messages using machine learning techniques. This paper presents a novel approach to detecting suspicious audio messages that combine acoustic features and statistical models. We use machine learning algorithms to identify anomalies in audio messages that may indicate suspicious activity. The system analyzes various characteristics of the audio messages, including speech patterns, voice quality, background noise, and other acoustic features. We evaluate our approach on a dataset of real-world audio messages[2] and achieve promising results in terms of accuracy and efficiency. Our system can be used in a variety of applications, such as law enforcement, national security, and corporate communication monitoring. Our work contributes to the development of effective and reliable tools for detecting suspicious audio messages in today's digital age. By leveraging machine learning and acoustic analysis, our approach offers a valuable tool for ensuring security and privacy in audio communication.