bluuebunny/crossref_metadata_2025_split huggingface dataset:
Do MTHFR C677T Genetic Polymorphism Influence in the Pathogenesis of Amyotrophic Lateral Sclerosis?
Authors: Azevedo Rômulo Morais , Santos Kamilla de Faria , de Oliveira Rayana Pereira Dantas , Pereira Júllia Costa , Bento Dhiogo da Cruz Pereira , Reis Angela Adamski da Silva , Santos Rodrigo da Silva 
Published: October 2021

Abstract
Amyotrophic Lateral Sclerosis (ALS) is a progressive and lethal neurodegenerative disease without a definitive diagnostic test and effective treatment. A plethora of studies suggest that genetic factors play an important role in ALS development, and potentially link folate pathway dysregulation to disease pathogenesis. This study aims to evaluate folate dysregulation due to MTHFR C677T polymorphism and other factors such as sociodemographic and clinical, to better elucidate the involvement of these factors in ALS pathogenesis, and to investigate possible biomarkers for use as disease diagnostics or prognostics. This hospital-based case-control study analyzed 101 patients diagnosed with ALS and 119 considered healthy, with no suspicion or diagnosis of neurodegenerative disease. Blood samples were collected, stored, and underwent DNA extraction. Clinical and sociodemographic data from patients were collected through a questionnaire, as well as consultation of medical records. Genotypic analyses were performed using PCR-RFLP, and statistical analysis of clinical and genotypic data was conducted with SPSS software, version 23. The results show a higher presence of the mutant genotype (p = 0.02) in the case group, and suggest that mutant allele (T) is a risk factor for ALS susceptibility (OR = 1.54; 95% CI = 1.05–2.29; p = 0.03). Mutant genotype (T/T) interacts with both demographics (White p = 0.005 / Brown p = 0,001) and clinical factors (Physical activity p = 0.006) as risk factors for ALS. Also, a significant difference in alcohol consumption (p = 0.001) between the case and control group was observed. Moreover, a statistical trend towards faster disease progression and death was observed for patients with the mutant allele (T) (p = 0.06). Thus, the results of this study suggest that folate deficiency due to MTHFR C677T polymorphism is implicated in ALS through pathogenic mechanisms and interaction with other risk factors, resulting in faster disease progression and early death.
Analysis of Cost-Effectiveness of Trametinib Plus Dabrafenib as First-Line Therapy for Metastatic BRAF V600-Mutated Melanoma in China
Authors: Sun Guojun , Wang Jingwen , Zhou Xiaoying , Hu Zhichao , Dong Zuojun 
Published: October 2021

Abstract
Background: Treatment with trametinib plus dabrafenib for patients exhibiting metastatic BRAF V600-mutated melanoma has been approved in China.Method: We developed a Markov model to evaluate and compare the cost-effectiveness of trametinib plus dabrafenib against vemurafenib. Information on clinical situations, the rate of adverse reactions, follow-up treatments, and estimated transition probabilities were derived from the results of a clinical trial that compared treatment with trametinib plus dabrafenib against vemurafenib alone. A one-way sensitivity analysis and a probabilistic sensitivity analysis were conducted to assess the influence of uncertainty on the key model.Result: Treatment with trametinib plus dabrafenib for one patient in the treatment period was estimated to cost CNY 332 294, and yield a total gain of 16.6 quality-adjusted life years (QALYs). Compared with vemurafenib, treatment involving trametinib plus dabrafenib yielded additional 3.96 QALYs, resulting in a unit cost-effectiveness of CNY 27 460 per QALY. Sensitivity analysis shows that the results are reliable.Conclusion：From the perspective of China's health system, applying China's per-capita GDP in 2020 as the threshold of willingness-to-pay, it is cost-effective to treat metastatic melanoma patients exhibiting BRAF V600 mutation with dabrafenib plus trametinib.
Recurrent Malignant Peripheral Nerve Sheath Tumor Presenting As an Asymptomatic Intravenous Thrombus Extending to the Heart: A Case Report
Authors: Hirozane Toru , Nakayama Robert , Yamaguchi Sayaka , Mori Tomoaki , Asano Naofumi , Asakura Keisuke , Kikuta Kazutaka , Kawaida Miho , Sasaki Aya , Okita Hajime , Nakatsuka Seishi , Ito Tsutomu 
Published: October 2021

Abstract
Background: Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma mainly treated via surgical resection. Herein, we report a case of MPNST wherein a massive tumor thrombus extended to the major veins and heart.Case presentation: A 39-year-old female with a history of neurofibromatosis type 1 developed MPNST from the right radial nerve. In addition to adjuvant chemotherapy, she underwent wide tumor resection and concomitant radial nerve resection, followed by postoperative radiotherapy. Histological evaluation revealed marked venous invasion. The 2-year follow-up CT revealed an asymptomatic recurrent tumor thrombus extending from the right subclavian vein to the heart. An urgent life-saving operation was performed to ligate the base of the right subclavian vein and remove the entire intravenous thrombus that extended to the right ventricle. The remaining tumor in the right subclavian vein increased in size 3 months after thrombectomy. After confirming the absence of any metastatic lesions, the patient underwent extended forequarter amputation to achieve surgical remission. One year later, a new metastasis to the right diaphragm was safely resected. The patient remains alive without any evidence of disease 2 years after the extended forequarter amputation. Conclusions: In cases of a previous history of microscopic venous invasion, recurrence can occur as a massive tumor thrombus that extends to the great vessels.
Deep Learning Assisted Cognitive Diagnosis for the D-Riska Application
Authors: Cuerda Cristian , Zornoza Alejandro , Tesoriero Ricardo , Gallud Jose A. , Romero-Ayuso Dulce 
Published: October 2021

Abstract
In this article, we expose a system developed that extends the Acquired Brain Injury (ABI) diagnostic application known as D-Riska with an artificial intelligence module that supports the diagnosis of ABI enabling therapists to evaluate patients in an assisted way. The application is in charge of collecting the data of the diagnostic tests of the patients, and due to a multi-class. Convolutional Neural Network classifier (CNN), it is capable of making predictions that facilitate the diagnosis and the final score obtained in the test by the patient. To find out the best solution to this problem, different classifiers are used to compare the performance of the proposed model based on various classification metrics. The proposed CNN classifier makes predictions with 93 \% of Accuracy, 94 \% of Precision, 91 \%, of Recall and 92\% of F1-Score.
Differentiation of Malignant Salivary Gland Tumors from Pleomorphic Adenomas and Warthin’s Tumors: Combined Diagnostic Value of Tumor Blood Flow and Apparent Diffusion Coefficient by Histogram Analysis
Authors: Tanaka Fumine , Umino Maki , Maeda Masayuki , Nakayama Ryohei , Inoue Katsuhiro , Kogue Ryota , Obara Makoto , Sakuma Hajime 
Published: October 2021

Abstract
We aimed to evaluate the usefulness of tumor blood flow (TBF) obtained by pseudocontinuous arterial spin labeling (pCASL) and apparent diffusion coefficient (ADC) for differentiating salivary gland malignant tumors (MTs) from pleomorphic adenomas (PAs) and Warthin’s tumors (WTs). We used pCASL imaging and ADC map to evaluate 65 patients, including 16 with MT, 30 with PA, and 19 with WT. We evaluated all tumors by histogram analyses and compared various characteristics by one-way analysis of variance followed by Tukey post-hoc tests. Diagnostic performance was evaluated by receiver operating characteristic (ROC) curve analysis. There were significant differences in the mean, 50th, 75th, and 90th percentiles of TBF among the tumor types, in the mean TBFs (ml/100g/min) between MTs (57.47 ± 35.14) and PAs (29.88 ± 22.53, p = 0.039) and between MTs and WTs (119.31 ± 50.11, p < 0.001), as well as in the mean ADCs (×10− 3 mm2/sec) between MTs (1.08 ± 0.28) and PAs (1.60 ± 0.34, p < 0.001), but not in the mean ADCs between MTs and WTs (0.87 ± 0.23, p = 0.117). In the ROC curve analysis, the highest areas under the curves (AUCs) were achieved by the 10th and 25th percentiles of ADC (AUC = 0.885) for differentiating MTs from PAs and the 50th percentile of TBF (AUC = 0.855) for differentiating MTs from WTs. The AUCs of TBF, ADC, and combination of TBF and ADC were 0.850, 0.885, and 0.950 for MT and PA differentiation and 0.855, 0.814, and 0.905 for MT and WT differentiation, respectively. The combination of TBF and ADC evaluated by histogram analysis helped differentiate salivary gland MTs from PAs and WTs.
Magnetic Field Amplification Driven by the Gyro Motion of Charged Particles
Authors: Gu Yan-Jun , Murakami Masakatsu 
Published: October 2021

Abstract
Spontaneous magnetic field generation plays important role in laser-plasma interactions. Strong quasi-static magnetic fields affect the thermal conductivity and the plasma dynamics, particularly in the case of ultra intense laser where the magnetic part of Lorentz force becomes as significant as the electric part. Kinetic simulations of giga-gauss magnetic field amplification via a laser irradiated microtube structure reveal the dynamics of charged particle implosions and the mechanism of magnetic field growth. A giga-gauss magnetic field is generated and amplified with the opposite polarity to the seed magnetic field. The spot size of the field is comparable to the laser wavelength, and the lifetime is hundreds of femtoseconds. An analytical model is presented to explain the underlying physics. This study should aid in designing future experiments.
Impact of Different Waves of COVID-19 on Emergency Medical Services and Out-of-hospital Cardiopulmonary Arrest in Madrid, Spain
Authors: Navalpotro-Pascual Jose-María , Monge-Martín Diana , González-León Manuel-José , Neria Fernando , Peinado-Vallejo Francisco , Alonso-Blas Carlos , Muñoz-Isabel Belén , Muñecas-Cuesta Yago , Carrillo-Freire Alfredo , Les-González Juan , Mateos-Rodríguez Alonso 
Published: October 2021

Abstract
Background: COVID-19 has led to decreased survival of out-of-hospital cardiorespiratory arrest (OHCA). We analysed the impact of the first COVID-19 pandemic year on emergency medical services and OHCA care compared with the previous year.Methods: Data for this observational study were collected for OHCAs attended by the SUMMA 112 emergency service during March 2019 to March 2021. We compared data covering 15 March 2020–14 March 2021 (pandemic year) to retrospective data covering 15 March 2019–14 March 2020 (non-pandemic year). Results: During the pandemic period, 1743 OHCA patients were attended, compared to 1781 during the non-pandemic year. Median patient age during the pandemic period was lower than in the non-pandemic period (71 vs 72, p=0·037). Emergency services response activation time increased during the pandemic year, to 3 minutes, 16 seconds from 2 minutes, 48 seconds in the non-pandemic period (p=0·001). Time to arrival at the scene also increased during the pandemic (12 minutes vs 11 minutes, 25 seconds before the pandemic; p=0·001). The percentage of OHCAs in which resuscitation was attempted was lower during the pandemic (59·4% vs 62·9%, p=0·034), as were survival on hospital arrival (30·3% vs 34·6%, p=0·04). Differences in response activation time (p=0·003) and scene arrival times (p=0·003) were greater during the first pandemic wave compared with the later phases. Conclusions: The different phases of the pandemic variably affected OHCA care. The first wave led to longer resource activation, increased home events and scene arrival times, as well as lower patient survival.
Migration of aerobic bacteria from the duodenum to the pancreas with tumors: a mechanistic understanding
Authors: Shirai Hiroaki , Ito Cocoro , Tsukada Kosuke 
Published: October 2021

Abstract
More aerobic bacteria are found in the pancreas with tumors than in the healthy pancreas. We provide a mechanistic understanding of the migration of intestinal bacteria from the duodenum to the pancreas with tumors. Mathematical models of migration of aerobic bacteria from the duodenum to the pancreas with tumors in the hepatopancreatic duct were developed. In addition, the behaviors of GFP E. coli under a pH gradient in a microfluidic device were analyzed. Moreover, upstream migrations of Pseudomonas fluorescens against flow were measured in a polydimethylsiloxane (PDMS) T-shaped cylinder mimicking a pancreatic duct. The simulated bacterial concentration of the pancreas with tumors was higher than that of the healthy pancreas and agreed reasonably well with the literature. Migration of aerobic bacteria in the hepatopancreatic duct is counteracted by bile and pancreatic juice flow but facilitated greatly by bacterial pH taxis from lower pH in duodenum fluid toward slightly alkaline pH in pancreatic juice, favorable for them. Migration of bacteria to the pancreas with tumors is made easier by solid tumors on the pancreatic duct, which compresses the pancreatic duct and thus reduces the fluid flow rate. On the other hand, GFP E. coli migrated under the pH gradient in a microfluidic device from acidic areas toward neutral or slightly alkaline pH, validating pH taxis. Furthermore, Pseudomonas fluorescens migrated upstream from hydrochloride solution but not from bicarbonate solution against bicarbonate flow at >20 µm/s, with an advancing velocity of approximately 60 µm/s, validating the models (244 words).
No DC superheating and increased surface pinning in low temperature baked niobium
Authors: Turner Daniel Andrew , Burt Graeme , Junginger Tobias 
Published: October 2021

Abstract
Superconducting Radio-Frequency cavities are currently made out of niobium. Niobium cavities are limited by the magnetic field on the cavity walls due to the entry of vortices at the field of first vortex penetration, Hvp. Low temperature baking in vacuum or low pressure gas atmosphere removes the strong decrease of the quality factor with accelerating gradient (high field Q-slope). Some cavities reach surface magnetic field above the lower critical field, Hc1. One hypothesis for this performance increase is that the outer layer affected by the treatments acts as a barrier for vortex penetration (effective bilayer). Using a vibrating sample magnetometer the field of first flux penetration (Hvp) was measured for Nb ellipsoids with various low temperature treatments. All Hvp values were found to be consistent with the lower critical field, Hc1 , as predicted for clean niobium. This led to the conclusion that a metastable flux free state above Hc1 cannot be observed in DC magnetometry for low temperature baked niobium unlike for bilayers consisting of two superconductors as previously published. The effect of flux pinning differed significantly between treatments, suggesting that the high field Q-slope mitigation might be related to vortex pinning in the surface of the cavities.
Impact of Traffic Congestion on Spatial Access to Healthcare Services in Nairobi: an ecological study
Authors: Nyamai Mutono , Wright Jim A. , Mutunga Mumbua , Mutembei Henry , Thumbi SM 
Published: October 2021

Abstract
Background

Geographic accessibility is an important determinant of healthcare utilisation and is critical for achievement of universal health coverage. Despite the high disease burden and severe traffic congestion in many African cities, few studies have assessed how traffic congestion impacts geographical access to healthcare facilities and to health professionals in these settings.
Methods

Using data on health facilities obtained from the Ministry of Health in Kenya, we mapped 944 primary, 94 secondary and four tertiary healthcare facilities in Nairobi County. We then used traffic probe data to identify areas within a 15-, 30- and 45-minute drive from each health facility during peak and off-peak hours and calculated the proportion of the population with access to healthcare in the County. We employed a 2-step floating catchment area model to calculate the ratio of healthcare and healthcare professionals to population during these times.
Results

During peak hours, <70% of Nairobi’s 4.1 million population was within a 30-minute drive from a health facility. This increased to >75% during off-peak hours. In 45 minutes, the majority of the population had an accessibility index of one health facility accessible to more than 100 people (<0.01) for primary health care facilities while secondary and tertiary health facilities had a ratio of one health facility for more than 10,000 people (<0.0001) and at least two health facilities per 100,000 people (>0.00002) respectively. Of people with access to health facilities, a sub-optimal ratio of <2.3 healthcare professionals per 1000 people was observed in facilities offering primary and secondary healthcare during peak and off-peak hours.
Conclusion

These findings can guide urban planners and policymakers in improving access to healthcare facilities to optimise coverage during peak and off-peak traffic times. Similarly, growing availability of traffic probe data in African cities should enable similar analysis in other countries.
Detection of Clinically Relevant Copy Number Variations and Genes in a Bangladeshi Cohort of Neurodevelopmental Disorders
Authors: Akter Hosneara , Rahman Muhammad Mizanur , Sarker Shaoli , Basiruzzaman Mohammed , Islam Mazharul , Rahaman Md. Atikur , Rahaman Md. Ashiquir , Eshaque Tamannyat Binte , Dity Nushrat Jahan , Sarker Shouvik , Amin Md. Robed , Hossain Md Monir , Lopa Maksuda , Jahan Nargis , Hossain Shafaat , Islam Amirul , Mondol Ashaduzzaman , Faruk Md Omar , Saha Narayan , Kundu Gopenkumar , Kanta Shayla Imam , Kazal Rezaul Karim , Fatema Kanij , Rahman Md. Ashrafur , Hasan Maruf , Mollah Md. Abid Hossain , Hosen Md. Ismail , Karuvantevida Noushad , Begum Ghausia , Ashraf Zehra Binte , Nassir Nasna , Nabi A.H.M. Nurun , Uddin KM Furkan , Uddin Mohammed 
Published: October 2021

Abstract
Background: Copy number variations (CNVs) play a critical role into the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify clinically relevant CNVs, genes and their phenotypic characteristics in an ethnically underrepresented homogenous population of Bangladesh. Methods: We have conducted genome-wide chromosomal microarray analysis (CMA) for 212 NDD patients with male to female ratio of 2.2:1.0 to identify rare chromosomal abnormalities (deletion /duplication/ rearrangements). To identify candidate genes within the rare CNVs, multiple gene constraint metrics (i.e. “Critical-Exon Genes (CEGs)”) were applied to the population data. Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) was followed in a subset of 95 NDD patients to assess the severity of autism and all statistical tests were performed using R package. Results: In our cohort, the head circumference of males are significantly greater than females (p=0.0002). Of all samples assayed, 12.26% (26/212) and 47.17% (100/212) patients carried pathogenic and variant of uncertain significance (VOUS) CNVs, respectively. 2.83% (6/212) pathogenic CNVs are located at the subtelomeric regions. Further burden test identified females are significant carriers of pathogenic CNVs in comparison to males (OR=4.2; p=0.0007). ADOS-2 subset show severe social communication deficit (p=0.014) and overall ASD symptoms severity (p=0.026) among the patients carrying duplication CNV compared to the CNV negative group. Candidate gene analysis identified 153 unique CEGs in pathogenic CNVs and 31 in VOUS. Of the unique genes, 18 genes were found to be in smaller (<1 MB) focal CNVs and identified PSMC3 gene as a potential candidate gene for Autism Spectrum Disorder (ASD). Moreover, we hypothesized that KMT2B gene duplication might be associated with intellectual disability. Conclusion: Our results show the utility of CMA for precise genetic diagnosis and its integration into the diagnosis therapeutics and management of NDD patients.
Redescription and phylogenetic analysis of the type species of the genus Panagrellus Thorne, 1938 (Rhabditida, Panagrolaimidae), P. pycnus Thorne, 1938, including the first SEM study
Authors: Abolafia Joaquín , Vecchi Matteo 
Published: October 2021

Abstract
The identity of Panagrellus pycnus, the type species of the genus Panagrellus, is discussed after studying specimens from a cultured population collected in Italy that fits the original material of the species. A new characterization is consequently provided as follows: body 0.93–1.32 mm long, lip region continuous with the adjoining body, stoma with gymnostom very reduced, pharynx with not swollen metacorpus, neck 161–203 µm long, excretory pore at level of the metacorpus, post-vulval uterine sac 99–162 µm long or 2.6–3.8 times as long as the body diameter divided in a short tubular proximal part and a long swollen distal part, vulva post-equatorial (V = 63–69), female tail conical elongate with acute terminus (133–170 µm, c = 6.8–8.1, c’ = 4.9–7.0), male tail conical elongate with acute terminus (104–137 µm, c = 7.8–10.9, c’ = 3.6–5.1), and spicules 70–81 µm long having angular hook-like and very curved ventrad lamina ending in a spatulate tip with a refringent forked axis. The evolutionary relationships of this species and the genus Panagrellus, as derived from the analyses of 18S and 28S rDNA fragments, are discussed. Additionally, the phylogenetic relationships among the members of the infraorder Panagrolaimomorpha is studied, being the genus Tarantobelus transferred to the family Panagrolaimidae and the new subfamily Tarantobelinae n. subfam. is proposed to accommodate it.
THE BASIC PRINCIPLES OF ADEQUATE ANTHROPOLOGY BY KAROL WOJTYLA
Authors: Dovhan Mariia Hryhorivna 
Published: October 2021

Problem setting. Anthropological issues are one of the key areas of research in both the humanities and natural sciences. Karol Wojtyla’s philosophical and theological heritage is a valuable object of study in view of the thinker’s study of human problems in various philosophical fields, analysis of the results of scientific achievements and the distinctive features of methodology. The importance of Karol Wojtyla’s anthropological teaching is determined by its practical nature.
Recent research and publications analysis. Of particular interest are the works of the following researchers: Gh. Pilusj, J. Kupnyj, I. Galjarovich, P. Bortkevych, F. Ghrenjuk, Ch. S. Bartnik, S. Kovaljchyk, M. Ghrabovsjkyj, P. Jarocjkyj, O. Kyrylova, I. Savynsjka, O. Bondar. The variety of theories and often the fragmentary nature of research reveals the need for their systematization and rethinking the anthropological teachings of Wojtyla.
Paper objective. The goal of the paper is to study the peculiarities of Karol Wojtyla’s adequate anthropology.
Paper main body. The paper reveals the basis of the philosophical and anthropological doctrine of the thinker, which is represented in the unity of spiritual, religious, and moral manifestations of human transcendence. It analyzes the connection of Wojtyla’s anthropological heritage with personalism, phenomenology, and Thomism. It is established that the creative heritage of Karol Wojtyla is characterized by a kind of conceptual and categorical apparatus that combines philosophical and theological concepts based on ethical terms.
Conclusions of the research. It is established that, in contrast to the Aristotelian-Thomistic interpretation, Wojtyla considered freedom to be the basis of all human qualities. It is investigated that the basic concepts of adequate anthropology of Wojtyla include: person, work, freedom, experience, love, law, beauty, truth, goodness, duty, and responsibility. Based on the research, I concluded that Karol Wojtyla is a representative of ethical personalism.