bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings
Authors: Aguillon David , Vasquez Daniel , Madrigal Lucia , Moreno Sonia , Hernández Dora , Isaza-Ruget Mario , Lopez Juan Javier , Landires Ivan , Nuñez-Samudio Virginia , Restrepo Carlos M , Vidal Oscar M , Velez Jorge I , Arcos-Holzinger Mauricio , Lopera Francisco , Arcos-Burgos Mauricio 
Published: November 2021

Abstract
Hereditary ataxias are a group of devastating neurological disorders that affect coordination of gait and are often associated with poor coordination of hands, speech, and eye movements. Ataxia with Ocular Apraxia type 1 (AOA1) (OMIM: 606350.0006) is characterized by slowly progressive symptoms of childhood-onset and pathogenic mutations in APTX; the only known cause underpinning AOA1. APTX encodes the protein Aprataxin, composed of three domains sharing homology with proteins involved in DNA damage, signaling, and repair. We present four siblings from an endogamic family in a rural, isolated town of Colombia with ataxia and ocular apraxia of childhood-onset and confirmed molecular diagnosis of AOA1, homozygous for the W279* p.Trp279Ter mutation. We predicted the mutated APTX with Alpha Fold to demonstrate the effects of this stop-gain mutation that deletes three beta helices encoded by amino acid 270 to 339 rescinding the C2H2-type zinc fingers (Znf) (C2H2 Znf) DNA-binding and DNA-repair domain and the whole tridimensional structure of the APTX. All siblings exhibited different ages of onset (4, 6, 8, and 11 y/o) and heterogeneous patterns of dysarthria (ranging from absence to mild-moderate dysarthria). Neuropsychological evaluation showed no neurocognitive impairment in three siblings, but one sibling showed temporospatial disorientation, semantic and phonologic fluency impairment, episodic memory affection, constructional apraxia, moderate anomia, low executive function, and symptoms of depression. This heterogeneous phenotype suggests genetic interactions can shape the natural history of AOA1. To our knowledge, this report represents the most extensive series of siblings affected with AOA1 in Latin America, and the genetic analysis completed adds important knowledge to outline this family’s disease and general complex phenotype of hereditary ataxias.
The Effects of Physical Activity on Mental Health During the COVID-19 Pandemic: a Systematic Review
Authors: Marconcin Priscila , Werneck André O. , Peralta Miguel , Ihle Andreas , Gouveia Élvio , Ferrari Gerson , Sarmento Hugo , Marques Adilson 
Published: November 2021

Abstract
Introduction: Coronavirus disease-19 (COVID-19) pandemic affected countries worldwide and has changed peoples’ lives. A reduction in physical activity and an increase in mental health problems were observed. Thus, this systematic review aims to examine the association between physical activity and mental health during the COVID-19 pandemic.Methods: In January 2021, a search was applied to PubMed, Scopus, and Web of Science. Eligibility criteria included cross-sectional, prospective, longitudinal study design and studies published in English; outcomes included physical activity and mental health (e.g., depressive symptoms, anxiety, positive and negative effects, well-being). Results: Nineteen studies were included in this review. Overall, the studies suggested that higher physical activity is associated with higher well-being, quality of life as well as lower depressive symptoms, anxiety, and stress, independently of age. There was no consensus for the optimal physical activity level for mitigating negative mental symptoms, neither for the frequency nor for the type of physical activity. Women were more vulnerable to mental health changes and men were more susceptive to physical activity changes. Conclusion: Physical activity seems to be a good and effective choice to mitigate the negative effects of the COVID-19 pandemic on mental health. Public health policies should alert for alternatives to increment physical activity during the stay-at-home orders in many countries.
Soluble Amyloid-Beta Isoforms Predict Downstream Alzheimer’s Disease Pathology
Authors: Povala Guilherme , Bellaver Bruna , De Bastiani Marco Antônio , Brum Wagner S. , Ferreira Pamela C. L. , Bieger Andrei , Pascoal Tharick A. , Benedet Andrea L. , Souza Diogo O. , Araujo Ricardo M. , Zatt Bruno , Rosa-Neto Pedro , Zimmer Eduardo R. 
Published: November 2021

Abstract
Background: Changes in soluble amyloid-beta (Aβ) levels in cerebrospinal fluid (CSF) are detectable at early preclinical stages of Alzheimer's disease (AD). However, whether Aβ levels can predict downstream AD pathological features in cognitively unimpaired (CU) individuals remains unclear. With this in mind, we aimed at investigating whether a combination of soluble Aβ isoforms can predict tau pathology (T+) and neurodegeneration (N+) positivity. Methods: We used CSF measurements of three soluble Aβ peptides (Aβ1‑38, Aβ1‑40 and Aβ1‑42) in CU individuals (n = 318) as input features in machine learning (ML) models aiming at predicting T+ and N+. Input data was used for building 2046 tuned predictive ML models with a nested cross-validation technique. Additionally, proteomics data was employed to investigate the functional enrichment of biological processes altered in T+ and N+ individuals. Results: Our findings indicate that Aβ isoforms can predict T+ and N+ with an area under the curve (AUC) of 0.929 and 0.936, respectively. Additionally, proteomics analysis identified 17 differentially expressed proteins (DEPs) in individuals wrongly classified by our ML algorithm. More specifically, enrichment analysis of gene ontology biological processes revealed an upregulation in myelinization and glucose metabolism-related processes in CU individuals wrongly predicted as T+. A significant enrichment of DEPs in pathways including biosynthesis of amino acids, glycolysis/gluconeogenesis, carbon metabolism, cell adhesion molecules and prion disease was also observed. Conclusions: Our results demonstrate that, by applying a refined ML analysis, a combination of Ab isoforms can predict T+ and N+ with a high AUC. CSF proteomics analysis highlighted a promising group of proteins that can be further explored for improving T+ and N+ prediction.
Reactive Molecular Dynamics Simulations On Thermal Decomposition of 3-Methyl-2,6-Dinitrophenol
Authors: Zhao Jiaxiang , Xiao Yun , He Jiayuan , Wang Jianlong 
Published: November 2021

Abstract
The decomposition mechanism of 3-methyl-2,6-dinitrophenol (MDNP) was simulated by reaction molecular dynamics using ReaxFF force field. The evolution of some main products with time at different heating rates (10, 15 and 20 K·ps-1) were obtained as well. The simulation outcomes reveal that with the elevation of the heating rate, the shorter the time required for the system to reach equilibrium, and the more products are produced. At three heating rates, the main intermediate products are C7H7O5N2, C7H6O4N2, C7H5O5N2, C7H5O4N2, HON, NO, NO2 and the primary final products are N2, CO2, H2O, H2, NH3, amongst which C7H5O5N2 is the first produced intermediate product and H2O is the first produced final product with the biggest abundance. The intermediate products first increase and then decrease to zero. Moreover, the primary chemistry reactions in the MDNP pyrolysis are acquired by ReaxFF MD simulations.
Loss of imprinting control of the lncRNA H19-fetal mitogen IGF2 gene cluster in the decidual microenvironment of patients with idiopathic spontaneous miscarriages
Authors: Wen Xue , Zhang Qi , Zhou Lei , Li Zhaozhi , Wei Xue , Zhang Jiaomei , Li Hui , Chen Yongchong , Niu Chao , Qu Ji , Li Min , Xu Jianting , Xu Zijun , Cui Xueling , Zhang Songling , Wang Yufeng , Li Wei , Hoffman Andrew R. , Liu Zhonghui , Hu Jifan , Cui Jiuwei 
Published: November 2021

Abstract
Miscarriage, the spontaneous loss of a pregnancy before the fetus achieves viability, is a common complication of pregnancy. Decidualization plays a critical role in the implantation of the embryo. To search for molecular factors underlying miscarriage, we explored the role of long noncoding RNAs (lncRNAs) in the decidual microenvironment, where the molecular crosstalk at the feto–maternal interface occurs. By integrating RNA-seq data from recurrent miscarriage patients and decidualized endometrial stromal cells, we identified H19 , a noncoding RNA that exhibits paternally imprinted monoallelic expression in normal tissues, as the most upregulated lncRNA associated with miscarriage. Aberrant upregulation of H19 lncRNA was observed in decidual tissues derived from patients with spontaneous miscarriage as well as decidualized endometrial stromal cells. The maternally imprinted fetal mitogen Igf2, which is usually reciprocally co-regulated with H19 in the same imprinting cluster, was also upregulated. Notably, both genes underwent loss of imprinting, as H19 and IGF2 were actively transcribed from both parental alleles in decidual tissues. Mechanistically, this loss of imprinting in decidual tissues was associated with the loss of the H3K27m3 suppression marker in the IGF2 promoter, CpG hypomethylation at the central CTCF binding site in the imprinting control center (ICR) that is located between IGF2 and H19 , and the loss of CTCF-mediated intrachromosomal looping. These data provide the first evidence that aberrant control of the ICR epigenotype-intrachromosomal looping- H19/IGF2 imprinting pathway may be a critical epigenetic risk factor in the abnormal decidualization related to miscarriage.
Black Girls And Referrals: Racial and Gender Disparities in Referral to Substance Use Disorder Screening in The Juvenile Justice System
Authors: Johnson Micah E , Lloyd Shawnta L , Bristol Skye C , Elliott Amy L , Cottler Linda B 
Published: November 2021

Abstract
Background: Justice-involved children (JIC) have a high risk for illicit substance use (SU) and substance use disorders (SUD). Females are particularly vulnerable. It is critical that JIC who report current SU are referred for SUD screening to be provided with potentially life-saving treatment services. Florida law and Florida Department of Juvenile Justice (FLDJJ) policy mandate that JIC who report current SU be referred for SUD screening. Evidence suggests a racial referral gap among JIC who require SUD screening, and research on intersectionality suggests that these disparities may be exacerbated for minority females. Therefore, we hypothesize that Black and Latinx females will be less likely to be referred for SUD screening than White children despite reporting current substance use to FLDJJ. Methods: Multivariate logistic regression was employed to analyze cross-sectional data from FLDJJ on 35,884 JIC who reported SU in the past six months. The main and interaction effects of race and gender on the likelihood of referral for SUD screening were tested. The control variables included substance type, age, household income, current SU problems, history of mental health problems, number of misdemeanors, and risk to recidivate. Results: There were no significant differences in the likelihood of being referred for SUD screening between White females and White males. However, Black females (AOR= 0.48), Latinx females (AOR= 0.77), and Black males (AOR= 0.76) were significantly less likely to be referred than White males. Black females were half as likely to be referred as White males and females. Conclusion: This study finds evidence that Black females in the juvenile justice system are significantly underserved. The justice community must leverage these findings to implement protocols that ensure equal services for all children and eliminate gender and racial disparities in SUD screening.
Limitations of the ARDS criteria during high-flow oxygen or non-invasive ventilation: Evidence from critically ill COVID-19 patients
Authors: Hultström Michael , Hellkvist Ola , Covaciu Lucian , Fredén Filip , Frithiof Robert , Lipcsey Miklós , Perchiazzi Gaetano , Pellegrini Mariangela 
Published: November 2021

Abstract
Introduction

The ratio of partial pressure of arterial oxygen to inspired oxygen fraction (PaO2/FIO2) during invasive mechanical ventilation (MV) is used as criteria to grade the severity of respiratory failure in acute respiratory distress syndrome (ARDS). During the SARS-CoV2 pandemic the use of PaO2/FIO2 ratio has been increasingly used in non-invasive respiratory support such as high-flow nasal cannula (HFNC) and non-invasive ventilation (NIV). The grading of hypoxemia in non-invasively ventilated patients is uncertain. The main hypothesis, investigated in this study, was that the PaO2/FIO2 ratio does not change when switching between MV, NIV and HFNC.

Methods

This was a sub-study of a single-center prospective observational study of patients admitted to the intensive care unit (ICU) at Uppsala University Hospital in Sweden for critical COVID-19. In a steady state condition, the PaO2/FIO2 ratio was recorded before and after any change between two of the studied respiratory support techniques (i.e., HFNC, NIV and MV).

Results

A total of 148 patients were included in the present analysis. We find that any change in respiratory support from or to HFNC caused a significant change in PaO2/FIO2 ratio (up to 48 mmHg, from HFNC to MV). Changes in respiratory support between NIV and MV did not show consistent change in PaO2/FIO2 ratio. In patients classified as mild to moderate ARDS during MV, the change from HFNC to MV showed a variable increase in PaO2/FIO2 ratio ranging between 52 and 140 mmHg (median of 127 mm Hg). This made prediction of ARDS severity during MV from the apparent ARDS grade during HFNC impossible.

Conclusion

HFNC is associated with lower PaO2/FIO2 ratio than either NIV or MV in the same patient, while NIV and MV provided similar PaO2/FIO2 and thus ARDS grade by Berlin definition. The large variation of PaO2/FIO2 ratio precludes using ARDS grade as a measure of pulmonary damage during HFNC.
C/EBPβ Participates in Nerve Trauma-Induced TLR7 Upregulation in Primary Sensory Neurons
Authors: He Long , Cao Jing , Jiang Bao-Chun , Yang Jian-Jun , Tao Yuan-Xiang , Ai Yanqiu 
Published: November 2021

Abstract
Nerve trauma-induced toll-like receptor 7 (TLR7) expression level increase in primary sensory neurons in the damaged dorsal root ganglion (DRG) avails to neuropathic pain, but the reason is still unknown. In the current study, we showed that unilateral lumbar 4 (L4) spinal nerve ligation (SNL) upregulated CCAAT/enhancer-binding protein-β (C/EBPβ) expression in ipsilateral L4 DRG. Preventing this elevation attenuated the SNL-induced upregulation of TLR7 in the ipsilateral L4 DRG and inhibited cold/thermal hyperalgesia and mechanical allodynia. Mimicking nerve trauma-induced C/EBPβ upregulation generated an elevated level of TLR7 in injected DRG, augmented responses to cold/thermal/mechanical stimuli while causing ipsilateral spontaneous pain with no SNL. Mechanistically, SNL upregulated binding of increased C/EBPβ to Tlr7 promoter in ipsilateral L4 DRG. Accorded that C/EBPβ could trigger the activation of Tlr7 promoter and co-expressed with Tlr7 mRNA in individual DRG neurons, our findings strongly suggest the role of C/EBPβ in nerve trauma-mediated TLR7 upregulation in damaged primary sensory neurons.
On The Replacement of Traditional Stabilizers by Guaiacol in Environmentally Safe Nitrocellulose-based Propellants
Authors: Rodrigues Rodrigo L. B. , Silva Ana Paula da , Rosato Rogério , Lemos Maurício F. , Peixoto Fernando C. , Franca Tanos Celmar Costa Costa , Filho Letivan G. Mendonça 
Published: November 2021

Abstract
In this work we investigated the possibility of substituting diphenylamine (DPA) by the natural product guaiacol, as a stabilizer for nitrocellulose (NC)-based propellants. Stability evaluation, using heat-flux calorimetry (HFC), revealed lower heat flows associated with our guaiacol-stabilized propellant samples when compared to those of propellants stabilized with the traditional stabilizers. Also, pressure-vacuum stability tests (PVST) showed that our propellant exhibited lower evolved gas volumes. Traditional tests, such as the German Test, and the Bergmann-Junk Test, scored a NO volume, after titration, of 0.87 ml (below the limit-value for acceptance, which is 2.0 ml), and the Storage Test, showed that our samples are stable and do not degrade for more than 3 days when submitted to a constant temperature of 100°C. The homogeneity, stability and compatibility of our samples were evaluated through scanning electron microscopy (SEM), differential scanning calorimetry (DSC), and isothermal thermogravimetry (TG). Ballistic parameters were estimated using a closed vessel along with ad hoc codes, for comparison purposes. Finally, a high-performance liquid chromatography (HPLC) method developed before allowed inferring the stabilizer consumption after artificial ageing of samples. Such method also showed that the material met the correspondent stability criteria (AOP-48). In short, our results clearly indicate that guaiacol is an effective and efficient substitute for DPA as a propellant stabilizer for single base nitrocellulose-based propellants, making them more environmentally friendly.
Risk of leakage with a new tissue containment system for power morcellation during gynecologic laparoscopy: An in vitro study
Authors: Zhao Fang , Liang Jing , Ling Bin 
Published: November 2021

Abstract
Purpose

To evaluate leakage and tissue dissemination associated with a new tissue containment system for tissue removal during laparoscopic myomectomy morcellation using rigid pipes that can be seamlessly connected to detachable trocars.
Methods

Pork specimens were stained with indigo carmine dye and morcellated under laparoscopic guidance in a plastic trainer box. Morcellation was performed using two different containment systems. First, a polyurethane bag, 12 mm sheath for introduction into the peritoneal cavity, and 11 mm optic sleeve (control group). Second, a new tissue containment system using rigid pipes and detachable trocars (experimental group). All bags were inflated to 14–20 mmHg pressure using a standard CO2 insufflator. Visual evidence of spilled tissue or dye and procedure times were recorded.
Results

Thirty trials were performed using a multi-port approach and the two tissue containment systems. The leakage rate was 0.03% for the experimental group and 26.6% for the control group (p < 0.005). Morcellation time was significantly shorter in the experimental group compared to that in the control group (p < 0.05). Mean bag introduction and removal times of the experimental group were shorter than those of the control group; however, the removal time differences were not statistically significant.
Conclusion

The current study quantified leakage during morcellation and the convenience provided by a new tissue containment system. Further studies and clinical trials are needed to corroborate the findings and to evaluate the use of the new tissue containment system for minimally invasive surgical treatment of tumors.
Decreased Serum Iron Concentration and Total Iron Binding Capacity Are Associated With Serious Crohn’s Disease
Authors: Su Jingling , Ren Yandan , Liu Lupeng , Hu Yiqun , Shi Huaxiu , Ren Jianlin , Xie Chenxi 
Published: November 2021

Abstract
Background: This study aimed to investigate whether serum indicators related to iron stores in the body are associated with clinical and endoscopic disease severity.Methods: Eighty-four patients with Crohn’s disease (CD) and twenty-four healthy volunteers were included. The indicators related to iron stores were detected within one week after endoscopic and CT enterography examinations.Results: Patients were divided into three groups according to the CDAI scores. Serum iron levels were decreased in all patient groups (p<0.05), and the values of remission group were higher than those of moderate group (p<0.001). The total iron binding capacity （TIBC） values of the moderate group were lower than those of the controls and the other patient groups (p<0.05). None of the indicators differed significantly among the patients classified by SES-CD (p>0.05). Underweight, decreased serum iron and TIBC were independent risk factors for moderate clinical disease. Combined detection of decreased serum iron and TIBC was helpful in differentiating severe patients. The sensitivity and specificity were 32.7% and 100%, respectively (AUC = 0.812, p<0.01).Conclusions: Decreases in serum iron and TIBC were associated with the clinical activity of CD. Combined detection of the two indicators was conducive to screening patients with serious disease.
Sustainable and Clean Utilization of Coal Gangue: Activation and Preparation of Citrate-Soluble Silicon Fertilizer
Authors: Lv Bo , Zhao Zeya , Deng Xiaowei , Fang Chaojun , Dong Bobing 
Published: November 2021

Abstract
Silicon (Si) fertilizer is of great significance to modern agricultural production; the citrate-soluble silicon fertilizer based on coal gangue is one way to protect the environment and meet the agricultural needs of China. In this study, we produced high-efficiency coal-gangue based silicon fertilizer by calcining a mixture of coal gangue, calcium carbonate (CaCO3) and corn stalk powder at high-temperature (i.e., high-temperature activation technology); the effect of temperature and mixing ratio on the available-Si content of activated coal gangue was studied, followed by an analysis of the mechanism of available- Si formation. The results showed that the layered structure of coal gangue was severely damaged above 600 ℃, and the kaolin began to transform into metakaolin and other substances, where the available-Si content was not high (less than 10%). When CaCO3 alone was added, the peak intensity of quartz and muscovite in coal gangue decreased significantly with the increase of CaCO3. However, CaCO3 mainly played a catalytic role in the entire calcination and activation process, forming only a small amount of calcium silicate on the contact surface with coal gangue; however, the available-Si content was still below 12.60%. When corn stalk powder alone was added, the oxides of the corn stalk ash participated in the chemical reaction involving coal gangue, forming nepheline (K(Na, K)3Al4Si4O16) and other silicates, and the available-Si content was significantly higher than that with CaCO3. When coal gangue, CaCO3, and corn stalk powder were mixed and calcined, the available-Si content was as high as 22.97% under the synergistic effect of CaCO3 and corn stalk powder; the concentration of harmful heavy metals was below 0.025 mg/L. The above is in line with the requirements of silicon fertilizer for use in agriculture, thus confirming the preparation of coal gangue-based silicon fertilizer in an efficient manner.