bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation
Authors: Luo Feifei , Ruan Ying , Du LiJun , Jiang Li , Xiong Ying , Liu Hanmin 
Published: April 2023

Abstract
Background Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease, usually associated with neonatal seizures, about 75% of the patients suffered from intellectual or developmental delay (IDD). Antiepileptic drugs are often difficult to control seizures or incomplete control, but pyridoxine administration can significantly improve seizure control and neurodevelopmental outcomes. Clinical diagnosis of PDE is challenging because its neurological symptoms may not be the primary clinical symptom. Some children may have other symptoms before the onset of PDE, such as respiratory distress, hypothermia, hypoglycemia, shock and acidosis, allergy, bloating, vomiting, and irritability. It was found that PDE is mainly caused by a mutation in ALDH7A1.
Case presentation This paper reports the clinical diagnosis and treatment of a case of pyridoxine-dependent epilepsy (PDE) and literature analysis. The onset of the disease was 2 hours after birth, with generalized tonic-clonic seizures and continuous convulsions. Various antiepileptic drugs were difficult to control. Due to an unclear early diagnosis and obvious lactic acid increase, mild hypothermia was used for 72 hours at the early stage. The effect of vitamin B6 treatment was not significant in the initial stage. Other diseases were excluded through rigorous clinical diagnosis and treatment, neuroelectrophysiology and neuroimaging examinations, and hematuria tandem mass spectrometry. The mutation of the ALDH7A1 gene was found through whole exome sequencing, and PDE was finally diagnosed. The control effect was good with vitamin B6 alone, and the growth and development were normal until the age of 3 months.
Conclusions We report a case of PDE in a Chinese newborn due to ALDH7A1 gene mutation. The c.531del (p.Leu178 *) mutation may be a new pathogenic mutation. Through our case report, it is suggested that the underlying etiology should also be suspected when the cause of various systemic symptoms is uncertain and the response to conventional treatment is insufficient. All patients with unexplained epilepsy who have conditions should receive PDE-related biochemical indicators and genetic testing.
Predictive mutagenesis of prolyl endopeptidase from non-pathogenic acidophilic bacteria for gliadin catalysis
Authors: Pathak Ravi Kant , Badyal Surbhi , Kharga Nitesh , Dutta Joydeep , Yadav Rakesh , Goutam Umesh 
Published: April 2023

Abstract
The enzyme prolyl endopeptidase is a member of serine peptidase group belonging to the MEROPS peptidase family S9 of clan SC. It is popularly known for its preferential cleavage of small peptides usually 30 amino acid long at the carboxyl end of proline residues. This characteristic cleavage property makes prolyl endopeptidase a therapeutic in treating gluten allergy which is triggered by 33 amino acid long (gliadin α-2) or 26 amino acid long peptides rich in proline and glutamine residues. Digestion of gliadin peptides to a length lesser than 9 amino acids can impede an autoimmune response and thus gluten sensitivity in genetically susceptible individuals. To address this issue, we have investigated the prolyl endopeptidase interactions with gliadin peptide by docking studies. Based on the docking exercises, interacting residues of endopeptidase can be further subjected to introduction of in silico mutations. A series of favourable mutations sites such as N477, I478, N483 and A682 in human PEP corresponding to which sites A548, G549, A555 and I737 have been identified respectively in Candidatus sulfotelmatobacter sp. sbA7, a non-pathogenic acidophilic human PEP homolog. Simulation of single substitution mutation at site A548 was tested capable to catalyse complete digestion of immunogenic gliadin α-2 peptide.
Clinical Utility of Monobiomaker-Based Malaria Rapid Diagnostic Test Kits at a Military Medical Centre in Ghana: An Exploration Pilot Study
Authors: Hamid Abdul-Wahab Mawuko , Yovelanywe Suonyir Raymond , Frimpomaa Salomey , Agyeman-Duah Kwaku , Kissiedu Kwapong Yaw , Cudjoe Evans Ewusie , Akoliga Samuel , Kinanyok Silas , Kwadzokpui Precious Kwablah , Jnr Kenneth Owusu Agyemang , Duneeh Richard Vikpebah , Bawah Ahmed Tijani , Nanga Salifu , Saeed Sumaiya Salifu , Boakye-Yiadom Emily , Afeke Innocent , Orish Verner Ndudiri , Kasu Emmanuel Senyo , Ofori Eric Kwasi , Owusu-Agyei Seth 
Published: April 2023

Abstract
Background: Proliferation of non-falciparum species of plasmodium into predominant falciparum populations compromises the utility of monobiomaker based malaria Rapid Diagnostic Test (mRDT). This study evaluated the validity of a mono-biomarker based Carestart®) and Paracheck™ mRDTs in use at a Military Medical Centre in Ghana.
Methodology: The study was designed to assess the validity of named mRDTs in a setting in Ghana. Blood samples collected from a consecutive series of 207 febrile patients in the months of June and July 2020, were tested for malaria parasites, using the mRDTs and microscopy as the gold standard. Prevalence, validity, and reliability metrics were determined using Frequentist, Receiver Operating Characteristics (ROC), and Kappa statistics, respectively.
Results: The prevalence was 23.2% and 12.3% using microscopy and candidate mRDT, respectively. Sensitivities and specificities were 53.2% and 98.1% (Carestart®), 45.8% and 99.4% (Paracheck), respectively. Neither ROC analysis showed a significant disparity between mRDTs (Carestart®: AUROC=0.75 vs Paracheck™: AUROC=0.73), nor the reliability index showed disagreement between both mRDTs (Cronbach’s α = 0.92). But there was significant disagreement between microscopy and mRDTs (Carestart®: Kappa=0.58 vs Paracheck™: Kappa=0.55).
Conclusion: The use of a monobiomaker mRDTs in this study led to a significant variation between the ‘internal’ and ‘ecological’ validity metrics. Averagely, 84% mRDT false negatives was non-falciparum. It is therefore, critical to accelerate the implementation of WHO’s recommendation to switch from mono to multiple biomarker (s)-based mRDTs for detecting both falciparum and non-falciparum species. Extended research is needed to consolidate our understanding of the dynamics of malaria among our military personnel exposed to non-falciparum plasmodium.
A new reservoir-based CPAP with low oxygen consumption. The Bag-CPAP
Authors: de Beaufort Eloïse , Carteaux Guillaume , Morin François , Lesimple Arnaud , Haudebourg Anne-Fleur , Fresnel Emeline , Duval Damien , Broc Alexandre , Mercat Alain , Brochard Laurent , Savary Dominique , Beloncle François , Dessap Armand Mekontso , Richard Jean-Christophe 
Published: April 2023

Abstract
Background
Several forms of noninvasive ventilatory supports have a high consumption of oxygen which may precipitate oxygen shortage, as experienced during the COVID-19 pandemic. In this bench-to-bedside study, we assessed the performances of a new continuous positive airway pressure (CPAP) device using a large a reservoir (the “Bag-CPAP”) designed to minimize oxygen consumption and compared it with other CPAP devices.
Methods
First, a bench study compared the performances of the Bag-CPAP and four CPAP devices to an intensive care unit ventilator. Two FiO2 targets (40-60% and 80-100%) at a predefined positive end expiratory pressure (PEEP) level between 5 and 10 cm H2O were tested and fraction of inspired oxygen (FiO2) and oxygen consumption were measured. Device-imposed work of breathing (WOB) was also evaluated.
Second, an observational clinical study evaluated the new CPAP in 20 adult patients with acute respiratory failure in two hospitals in France. Actual FiO2, PEEP, peripheral oxygen saturation, respiratory rate and dyspnea score were assessed.
Results
All six systems tested in the bench study reached the minimal FiO2 target of 40% and four were able to reach at least 80% FiO2 while maintaining PEEP in the predefined range. The ratio of FiO2 delivered to the oxygen consumed was the highest with the new reservoir-based CPAP whatever the FiO2 target. The WOB induced by the device was slightly higher with the Bag-CPAP.
In the clinical study, the Bag-CPAP was well tolerated and could reach high (>90%) and moderate (>50%) FiO2 with an oxygen flow rate of 15 [15-16] and 8 [7-9] L/min, respectively. Dyspnea score improved significantly after introduction of Bag-CPAP, and SpO2 increased.
Conclusions
In vitro, the Bag-CPAP exhibited the highest oxygen saving properties. It was well accepted clinically and reduces dyspnea. The Bag-CPAP may be useful to treat patients with acute respiratory failure in the field, especially when facing constraints in oxygen delivery.
Erchen Decoction Alleviates High-Fat Diet + AOM/DSS-Induced CRC by Ameliorating Cholesterol-Bile Acid Metabolism Disorder through Regulating FXR and the Gut Microbiota
Authors: Liu Ruifang , shanshan Ding , zhaoyang Yang , fei Zhang , Fu Yi , Peng Xue , Jindi Zhao , Yang Yuan , Liao Linghong 
Published: April 2023

Abstract

The incidence of colorectal cancer (CRC) is closely related to dietary factors. Dietary factors greatly affect the structure and function of intestinal microorganisms. In the process of cholesterol bile acid metabolism, the gut microbes participate in the conversion of primary bile acid to secondary bile acid and play an important role in the occurrence and development of CRC. Erchen decoction (ECD) has been widely used in basic research and clinical treatment as a traditional Chinese medical prescription, particularly for patients who are overweight and exhibit dyslipidemia. It is widely used in clinical practice in patients with phlegm syndrome in early colorectal cancer. However, the effects of this treatment on microorganisms and the underlying metabolic mechanisms are still unclear. In this study, a model of high-fat diet and azoxymethane combined with dextran sodium sulfate (AOM/DSS) was established, and ECD intervention was administered to investigate the incidence rate of CRC under different dietary conditions, as well as the effect of ECD intervention on CRC mice fed a high-fat diet. The results showed that the incidence rate of colorectal neoplasms increased under conditions of a high-fat diet, and ECD could reduce the incidence of CRC by regulating abnormal lipid metabolism and improving the structure and function of the intestinal flora.
The Impact of Expanded Access Programs for Systemic Anticancer Therapy in an Irish Cancer Centre
Authors: Cronin Timothy K , Ronayne Cian , O’Donovan Niamh , McGuinness Eimear , Cooke Katie , Dennehy Maeve , Dennehy Colum , Power Derek G , Cahill Mary R , Collins Dearbhaile C , Connolly Roisin M , Bambury Richard M , Mykytiv Vitaliy , Higgins Michaela J , Noonan Sinéad A , O'Reilly Seamus 
Published: April 2023

Abstract

Purpose Expanded access programs (EAPs) allow patients with cancer who have unmet clinical needs to obtain access to pre-authorisation treatments. There is no standardised process or registry for implementing these programs nationally and real world data on their impact is lacking. We evaluated their prevalence and impact in a cancer centre.Methods Data relating to adult cancer patients treated via EAPs from 2011 to 2021 in three Cork university hospitals was collated. Descriptive statistics were employed to get an overview of the impact these programs currently have on cancer care provision.Results We identified 193 patients who accessed EAPs during the study period, availing of 33 separate drugs for a total of 50 different cancer indications. The prevalence of EAP usage was shown to have been trending upwards in recent years with a total of 189 programs being accessed throughout the period. Drugs provided were from a number of different anti-cancer drug classes, particularly targeted therapies (n = 18) and immune checkpoint inhibitors (n = 17). Cancers from a wide range of both solid and liquid tumour types were identified as having been treated with EAP drugs and patients treated were from across a broad spectrum of ages (26–82, SD:11.99).Conclusion EAPs have an increasing role in access to novel cancer therapies in our community and by extension nationally. Equity of EAP access would be facilitated by a national registry of available agents which we have now established. Assessment of their benefits and toxicities would be enhanced by the requirement for a real world data base as a condition of EAP approval.
Soft Computing Techniques for Stock Market Prediction: An Analysis
Authors: Ayyasamy S. , Sachan Prateek , Ranadheer M. , Singh Ananya 
Published: April 2023

Abstract
The task of predicting stock prices is crucial in the fields of finance and economics. Machine learning methods have been increasingly popular in recent years for stock price forecasting. In this abstract, we suggest a hybrid model for predicting stock prices that combines the strength of XGBoost, RNN, and LSTM networks. Stock price prediction is one of the numerous uses for the potent gradient boosting method known as XGBoost. Stock price sequential data is a good fit for deep learning models like RNN and LSTM. The proposed hybrid model first extracts significant features from historical stock data using XGBoost, and then models the temporal dependencies in the data using RNN and LSTM. The experimental findings demonstrate that the suggested model performs better than the state-of-the-art models on several benchmark datasets.
Predictors of Antipsychotics Switching among Ambulatory Patients with Schizophrenia in Ethiopia: A Multicenter Hospital-Based Cross-Sectional Study.
Authors: Kiflu Mekdes , Azale Telake , Gubae Kale , Agegnew Samuel , Mebratu Ephrem , EliasErgena Asrat , Abubeker Ousman , Mekonnen Gizework Alemnew 
Published: April 2023

Abstract
Introduction: A change of therapy from one to another antipsychotic medication is currently the main challenge of therapy. This study aimed to assess the prevalence of antipsychotic medication switches and determinants among patients with schizophrenia in Northwest Ethiopia.Methods Multi-center hospital-based cross-sectional study was conducted at five Comprehensive Specialized Hospitals found in Northwest Ethiopia from April 30, 2021, to August 30, 2021. Data were extracted from both patients’ medical charts and interviews. Data were entered into Epi-data software version 3.5.1 and exported to SPSS version 25.0 for analysis. A multivariable logistic regression model was fitted to identify factors associated with medication regimen switch. The level of significance of the study was kept at a P-value of 0.05 with a 95% confidence interval.Result a total of 414 patients are involved in the study, and 188(45.5%) of patients switched antipsychotics within one year. The unavailability of the medication is the commonest reason for switching. Being male[AOR = 2.581,95% CI; (1.463,4.552)], having relapse[AOR = 2.341,95% CI: (1.169,4.687) ], history of hospitalization in the past year [AOR = 3.00,95% CI; (1.478,5.715)] and taking typical antipsychotics [AOR = 3.340, CI; (1.76, 6.00)] had a significant association with antipsychotics switching.Conclusions and recommendations: There is a high prevalence of antipsychotic switches among schizophrenia patients. Prescribers need to be careful while dosing, selecting, and switching antipsychotics, hence may help reduce discontinuation and unnecessary switch and thus achieve optimal clinical management.
Fusing Artificial Intelligence with Scrum Framework
Authors: Ameta Upasana , Patel Mayank , Rathore Narendra Singh 
Published: April 2023

Abstract
In today’s era, AI has become a huge part of people’s lives. AI technology’s ability to think, evaluate, and respond like a human brain has reduced human effort by automating a large number of tasks. However, the development of such applications is difficult and requires mass data evaluation and manipulation. With innovations, changing customer needs, and increasing complexity, AI project development require a renovated approach to improve the development procedure. Employing Scrum Framework prescribed under the Agile Software Development Methodology can prove to be an effective way to improve product quality and revenue and reduce production complicacy. Scrum Framework aims to develop small pieces of the product in increments and continuously test and evaluate it to minimize errors and maximize responsiveness. The repetitive, inspective, and adoptive approach followed by Scrum Framework can make AI-based project development and management easier and more effective.
Analysis of the pulse widths on radiation properties from an electron driven by intense elliptically polarized laser
Authors: zhang xiang , chen dongjun , tian youwei 
Published: April 2023

Abstract
In this paper, a model of electron electromagnetic radiation is established by using Lorentz formula for the interaction of a tightly focused elliptically polarized laser with a single electron under the condition of nonlinear Thomson scattering. Let the initial pulse width λ0 be 3.3fs. By changing the laser pulse width λ0, the energy distribution and space distribution of electron radiation emitted by electron under different conditions are obtained. The results show that when laser interacts with a single electron, the electromagnetic radiation emitted by the electron accumulates in a cone shape in space. With the increase of pulse width λ0, the peak energy of electron radiation is bimodal, and the peak power of electron radiation drops. At the same time, the longer it takes for the electron radiation to reach the peak, the frequency spectrum and time function show that the high-frequency component decreases, the cutoff frequency decreases, and the harmonic frequency increases.
17β-estradiol delays cardiac aging through suppressing the methylation of Beclin1 in a murine model
Authors: Ye Lili , Shi Xiaoyi , Deng Tianming , Zhao Jun , Wu Tianjie , Chen Jingrong 
Published: April 2023

Abstract
Cardiac endogenous senescence will gradually change and aggravate with age. Recent research showed that 17β-estradiol (17β-E2), an estrogen with numerous biological activities including the prevention of vascular senescence. However, how 17β-E2 against cardiac aging is still unknown. This work addressed the underlying mechanism with regard to Beclin1 and autophagy activity to better understand the anti-senescent effect of 17β-E2 on a well-established animal model of cardiac aging. The findings demonstrated that cardiac aging mice treated with 17β-E2 had substantially improved heart function. By RNA-sequencing and Gene Set Enrichment Analysis (GSEA) analysis, the autophagy signaling pathway was further enriched in the myocardial tissue of cardiac aging mice treated with 17β-E2, and we also discovered that 17β-E2 obviously suppress the methylation of Beclin1 promoter region, which mediate the activation of autophagy signal. Overall, our data showed that 17β-E2's anti-senescent effect on cardiac aging mice was mediated by the crucial suppression of methylation in the Beclin1 promoter area and subsequent activation of the autophagy signal, which may present a possible therapeutic approach to prevent cardiac aging.
The study of heat transfer in convex parabolic profile fins
Authors: Mhlongo Mfanafikile Don , Shozi Benjamin Franklin 
Published: April 2023

Abstract
The heat transfer in a longitudinal fin of a convex parabolic shape is examined in this research. The temperature distribution is given by the power law, and thermal conductivity and heat transport vary nonlinearly with temperature. The boundary conditions that we have selected are the step change in base heat flow and step change in base temperature. We employ Lie symmetries to overcome the issue. Two local symmetries were allowed by the governing equation for the convex parabolic profile in the case where $m=n$ and two additional symmetries in the situation where $m\neq n.$ The initial non-linear PDE was transformed into non-linear ODEs by the local symmetries. Both steady-state and transient-state solutions were examined. In certain circumstances, the solutions achieved the desired step shift. The effects of the thermo-geometric parameter and the exponent on temperature are studied. The fin efficiency is also examined.
Real-time Human Body Detection in Surveillance Footage Using Computer Vision Algorithms
Authors: Er-Rajy Latifa , kiram my Ahmed El , ghazouani Mohamed El 
Published: April 2023

Abstract
The detection of human bodies in real-time surveillance footage is a crucial problem in the field of computer vision with various applications in security, safety, and monitoring. In this paper, we present our computer vision system designed for real-time human body detection in surveillance footage. The system is optimized for both efficiency and accuracy, making it suitable for use in real-world scenarios. We have divided the system into several stages including data collection, feature extraction, model selection, model training, real-time deployment, and post-processing. To evaluate our system, we conducted thorough evaluations on a large dataset of surveillance footage and found it to achieve high accuracy and efficiency. The results of our extensive evaluation demonstrate the tool's effectiveness and potential for widespread use in various applications. The proposed system is a valuable tool for practical applications, providing a reliable and cost-effective solution for real-time human body detection and can be easily integrated into existing surveillance systems. Our contribution to the advancement of computer vision and its applications in real-world scenarios, particularly in the field of security and surveillance, is significant. The paper concludes with a discussion of future work aimed at further improving the tool's capabilities and applications.
Preferences of patients with severe mental disorders in social medical welfare policies: a discrete choice experiment from communities in China
Authors: Lu Wei , Huang Qingzhi , Zhu Junli , Chen Yun , Su Dai , Chen Chen , Xin Yu 
Published: April 2023

Abstract
Purpose Patients with severe mental disorders in China face a heavy financial burden and are in dire need of government support to help with medical costs. At present, the implementation of social medical welfare policies for patients with severe mental disorders in China has been ineffective. This study aims to study the participation preferences of patients for these policies, and provide a basis for the next path of policies improvement.Methods A questionnaire using the discrete choice experiment has been designed. Conditional logit regression and mixed logit regression models have been constructed based on the choice preference data, while relative importance and scenario prediction analysis have been adopted to measure the emphasis level of policy attributes in patients' minds.Results All four policy attributes affect patients' preferences for policy participation, while the attributes in descending order of relative importance are starting payment line(29.10%), reimbursement rate(25.40%), drug catalogue(24.19%), and designated medical institutions(21.31%).Patients significantly preferred the policy option with no starting payment line (p < 0.01). There are also differences in the attributes that patients with different characteristics consider critical when making choices.Conclusion This study has measured demand-side preferences for policy participation from the patient's perspective. The important finding obtained is that patients' preferences for policies attributes are closely influenced by the actual details of the policies in which they are currently or have previously participated and by their level of awareness at the time they make their judgments. The direction of policies adjustment can be grasped accordingly.