bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of Different Culture Conditions on Gene Expression Associated With Cyst Production in Populations of Artemia franciscana
Authors: Parraguez Margarita 
Published: March 2022

Artemia franciscana inhabits hypersaline environments in the Americas and has a well-adapted reproductive system that allows it to survive in these extreme conditions, represented by the production of diapause cysts (oviparous reproduction). This reproduction mode is controlled by numerous genes that are expressed in response to different environmental stressors, enabling this species to avoid population extinction. However, to date, the expression of these genes has not been sufficiently studied to clarify their levels in response to a combination of different environmental factors under controlled conditions. We analyzed the expression of eight genes related to oviparous reproduction (SGEG, Arp-CBP, artemin, BRCA1, p8, ArHsp21, ArHsp22, and p26) to determine their association with cyst production in two populations of A. franciscana with contrasting phenotypes, one with high (Barro Negro, BNE, Chile) and one with low (San Francisco Bay, SFB, United States) cyst production. Populations were cultured under controlled conditions of salinity (SAL, 35 and 75 ppt), photoperiod (PHO, 12L:12D and 24L:00D), iron concentration (IC, 0[Fe] and 5[Fe]), and microalgae diet (DIE; Dunaliella tertiolecta (DUN) and Tetraselmis suecica (TETRA)). Sixteen treatments were performed by combining the two conditions of each of the four factors. Data on nine reproductive parameters per female were recorded, including the percent of offspring encysted (%) (POE). The gene expression levels were analyzed by semiquantitative RT-PCR. The mean POE was significantly greater in BNE than in SFB (32.40 versus 12.74%, Mann–Whitney’s test, p &lt; 0.05). Significantly upregulated expression of seven genes in BNE (more than twofold, p &lt; 0.05) was observed in 38.28% of the treatments (e.g., DUN-75ppt-12L:12D-5[Fe] and TETRA-35ppt-12L:12D-5[Fe]). In SFB, seven genes showed significant differential expression, but most were downregulated in 29.69% of the treatments (e.g., DUN-75ppt-12L:12D-0[Fe] and DUN-75ppt-24L:00D-0[Fe]). Multiple regression analyses indicated that in BNE, five genes (SGEG, artemin, Arp-CBP, p8, and BRCA1) and three environmental factors (DIE, SAL, and IC) were important predictor variables for the POE response variable given that all of them were included in the highest-ranking models. In SFB, only two genes (ArHsp21 and artemin) and one environmental factor (SAL) were important explanatory variables in the highest-ranking models. It was concluded that the BNE population presented a characteristic gene expression pattern that differed from that of the SFB population. This pattern might be related to the marked oviparous reproduction of the BNE population. This gene expression pattern could be useful for monitoring the reproductive mode leading to diapause in Artemia and to assist with intensive cyst production in pond systems.
Comparative Transcriptome Analysis Provides Insight into Spatio-Temporal Expression Characteristics and Genetic Regulatory Network in Postnatal Developing Subcutaneous and Visceral Fat of Bama Pig
Authors: Zhang Yingying , Wang Hongyang , Tu Weilong , Abbas Raza Sayed Haidar , Cao Jianguo , Huang Ji , Wu Huali , Fan Chun , Wang Shengchang , Zhao Ying , Tan Yongsong 
Published: March 2022

The depot differences between Subcutaneous Fat (SAF) and Visceral Fat (VAF) are critical for human well-being and disease processes in regard to energy metabolism and endocrine function. Miniature pigs (Sus scrofa) are ideal biomedical models for human energy metabolism and obesity due to the similarity of their lipid metabolism with that of humans. However, the regulation of differences in fat deposition and development remains unclear. In this study, the development of SAF and VAF was characterized and compared in Bama pig during postnatal development (infancy, puberty and adulthood), using RNA sequencing techniques (RNA-Seq). The transcriptome of SAF and VAF was profiled and isolated from 1-, 3- and 6 months-old pigs and identified 23,636 expressed genes, of which 1,165 genes were differentially expressed between the depots and/or developmental stages. Upregulated genes in SAF showed significant function and pathway enrichment in the central nervous system development, lipid metabolism, oxidation-reduction process and cell adhesion, whereas genes involved in the immune system, actin cytoskeleton organization, male gonad development and the hippo signaling pathway were preferentially expressed in VAF. Miner analysis of short time-series expression demonstrated that differentiation in gene expression patterns between the two depots corresponded to their distinct responses in sexual development, hormone signaling pathways, lipid metabolism and the hippo signaling pathway. Transcriptome analysis of SAF and VAF suggested that the depot differences in adipose tissue are not only related to lipid metabolism and endocrine function, but are closely associated with sexual development and organ size regulation.
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease
Authors: Zhi Xiufang , Ai Qi , Sheng Wenchao , Yu Yuping , Shu Jianbo , Yu Changshun , Yu Xiaoli , Li Dong , Cai Chunquan 
Published: March 2022

Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient with MD.Methods: One 10-month-old Chinese boy who met the clinical manifestations of MD was enrolled in this study. Whole genome sequencing (WGS) was performed in the patient in order to identify the variant(s), followed by Sanger sequencing. RNA sequencing (RNA-seq) from whole blood was subsequently applied to assess the effect of variant on transcription levels, and reverse transcriptase-polymerase chain reaction (RT-PCR) was performed for further validation. In addition, X chromosome inactivation (XCI) status of the patient’s mother at the DNA level was measured by capillary electrophoresis.Results: The patient suffered from intermittent convulsions for more than 6 months, with psychomoto retardation and neurodegenerations. The patient also had curly hair, hypopigmented skin, cutis laxa, decreased muscle strength and hypotonia. MRI showed the intracranial arteries were tortuous with some “spiral” changes. The patient’s serum ceruloplasmin level was low. WGS revealed one novel hemizygous variant, c.2627-501C &gt; T (NM_000,052.7), located in the deep intronic sequence of ATP7A gene. Sanger sequencing confirmed that the variant was inherited from his mother. RNA-seq confirmed the variant itself, and identified a pseudo-exon inserted between exons 12 and 13 in mRNA of ATP7A. The sequencing results of RT-PCR from the patient confirmed this finding, while neither of his parents detected aberrant splicing. The Capillary electrophoresis results showed that the patient’s mother had a skewed XCI.Conclusion: Our finding of the variant enlarges the variant spectrum in the ATP7A gene. This is a novel deep intronic variant which leads to the activation of a pseudo-exons in the ATP7A gene, and it demonstrates the usefulness of WGS combined with RNA-seq, in terms of revealing disease-causing variants in non-coding regions. Furthermore, the fact that the deep intronic variants cause disease by the activation of pseudo-exon inclusion indicates that in MD this might be an important mechanism.
Association Studies of Environmental Exposures, DNA Methylation and Children’s Cognitive, Behavioral, and Mental Health Problems
Authors: Guo Jia , Riley Kylie W. , Durham Teresa , Margolis Amy E. , Wang Shuang , Perera Frederica , Herbstman Julie B. 
Published: March 2022

Introduction: Prenatal environmental exposures have been associated with children’s cognitive, behavioral, and mental health problems, and alterations in DNA methylation have been hypothesized as an underlying biological mechanism. However, when testing this hypothesis, it is often difficult to overcome the problem of multiple comparisons in statistical testing when evaluating a large number of developmental outcomes and DNA methylation sites as potential mediators. The objective of this study is to implement a ‘meet-in-the-middle’ approach with a sequential roadmap to address this concern.Methods: In the Columbia Center for Children’s Environmental Health birth cohort study, we implemented a 5-step sequential process for identifying CpG sites that mediate associations between prenatal environmental exposures and cognitive, behavioral, and mental health problems as measured by the Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV) and the Child Behavior Checklist (CBCL). These steps include 1) the identification of biological pathways that are relevant to each outcome of interest; 2) selection of a set of genes and CpGs on genes that are significantly associated with the outcomes; 3) identification of exposures that are significantly associated with selected CpGs; 4) examination of exposure-outcome relationships among those where significant CpGs were identified; and 5) mediation analysis of the selected exposures and corresponding outcomes. In this study, we considered a spectrum of environmental exposure classes including environmental phenols, pesticides, phthalates, flame retardants and air pollutants.Results: Among all considered exposures and outcomes, we found one CpG site (cg27510182) on gene (DAB1) that potentially mediates the effect of exposure to PAH on CBCL social problems at children aged 7.Conclusion: This ‘meet-in-the-middle’ approach attenuates concerns regarding multiple comparisons by focusing on genes and pathways that are biologically relevant for the hypothesis.
Accessing Maternal Health Care in the Midst of the COVID-19 Pandemic: A Study in Two Districts of Assam, India
Authors: Padhye Rashmi , Purushotham Anusha , Paul Maitrayee , Sardeshpande Nilangi , Ballala Ramnath , Dhar Shelley , Kaul Sunil , Khanna Renu 
Published: March 2022

BackgroundCOVID-19 pandemic and the subsequent national lockdown in India compelled the health system to focus on COVID-19 management. Information from the field indicated the impact of COVID- 19 on the provision of maternal health services. This research presents users' and providers' perspectives about the effect of the pandemic on maternal health services in select districts of Assam.MethodsThe study was undertaken to understand the status of maternal health service provision and challenges faced by 110 pregnant and recently delivered women, 38 health care providers and 18 Village Health Sanitation and Nutrition Committee members during COVID-19 pandemic. Telephonic interviews were conducted with the users identified through simple random sampling. Healthcare providers and the community members were identified purposively.ResultsMost of the interviewed women reported that they could access the health services, but had to spend out-of-pocket (for certain services) despite accessing the services from government health facilities. Healthcare providers highlighted the lack of transportation facilities and medicine unavailability as challenges in providing routine services. The study revealed high proportion of Caesarian section deliveries (42.6%, n = 32) and stillbirths (10.6%, n = 8).DiscussionThis research hypothesizes the supply-side (health system) factors and demand-side (community-level) factors converged to affect the access to maternal health services. Health system preparedness by ensuring availability of all services at the last mile and strengthening existing community-reliant health services is recommended for uninterrupted good quality and affordable maternal health service provision.
PET and CT Image Fusion of Lung Cancer With Siamese Pyramid Fusion Network
Authors: Xiao Ning , Yang Wanting , Qiang Yan , Zhao Juanjuan , Hao Rui , Lian Jianhong , Li Shuo 
Published: March 2022

BackgroundThe fusion of PET metabolic images and CT anatomical images can simultaneously display the metabolic activity and anatomical position, which plays an indispensable role in the staging diagnosis and accurate positioning of lung cancer.MethodsIn order to improve the information of PET-CT fusion image, this article proposes a PET-CT fusion method via Siamese Pyramid Fusion Network (SPFN). In this method, feature pyramid transformation is introduced to the siamese convolution neural network to extract multi-scale information of the image. In the design of the objective function, this article considers the nature of image fusion problem, utilizes the image structure similarity as the objective function and introduces L1 regularization to improve the quality of the image.ResultsThe effectiveness of the proposed method is verified by more than 700 pairs of PET-CT images and elaborate experimental design. The visual fidelity after fusion reaches 0.350, the information entropy reaches 0.076.ConclusionThe quantitative and qualitative results proved that the proposed PET-CT fusion method has some advantages. In addition, the results show that PET-CT fusion image can improve the ability of staging diagnosis compared with single modal image.
Effects of Remotely Supervised Physical Activity on Health Profile in Frail Older Adults: A Randomized Controlled Trial Protocol
Authors: Zhang Xin , Li Jinwei , Sui Xin , Xu Linqi , Zhu Lanyu , Pang Yue , Yu Tianzhuo , Lian Xiaoqian , Yu Tianyue , Li Yuewei , Xu Haiyan , Li Feng 
Published: March 2022

BackgroundFrailty is considered a major public health challenge of the 21st century, characterized by the decline of multiform body functions. Physical activity may be the most effective intervention to delay frailty. This study aims to verify the effect of remotely supervised physical activity on health profile in community-dwelling frail older adults.DesignThis is a multicenter, three-blind, two-arm, and cohort randomized controlled study.MethodsThe intelligent exercise rehabilitation management system (IERMS) is an integrated digital platform that involves evaluation, guidance, monitoring, and feedback. A total of 120 participants aged ≥ 65 years and diagnosed as frailty on the FRAIL scale will be recruited and randomly divided into two groups. Group 1 will receive a 12-week IERMS-based intervention, and Group 2 will receive the usual care. Data will be collected at baseline, 12 and 24 weeks. The primary outcome is the physical function, and secondary outcomes include gait parameters, psychology, and cognition measurements. Analyses will be performed using DSS statistics, version 25. P &lt; 0.05 will be considered statistically significant.ConclusionWe believe that intervention plays a positive role in delaying the frailty. If our program is effective, we will provide a viable means to promote healthy aging in primary healthcare.Trial registration numberChiCTR2100052286; Pre-results.
Breached Barriers: A Scoping Review of Blood-Central Nervous System Barrier Pathology in Amyotrophic Lateral Sclerosis
Authors: Mirian Ario , Moszczynski Alexander , Soleimani Serena , Aubert Isabelle , Zinman Lorne , Abrahao Agessandro 
Published: March 2022

IntroductionRecent studies have implicated changes in the blood-central nervous system barriers (BCNSB) in amyotrophic lateral sclerosis (ALS). The objective of this scoping review is to synthesize the current evidence for BCNSB structure and functional abnormalities in ALS studies and propose how BCNSB pathology may impact therapeutic development.MethodsA literature search was conducted using Ovid Medline, EMBASE, and Web of Science, from inception to November 2021 and limited to entries in English language. Simplified search strategy included the terms ALS/motor neuron disease and [BCNSB or blood-brain barrier (BBB) or blood-spinal cord barrier (BSCB)]. Henceforth, BCNSB is used as a term that is inclusive of the BBB and BSCB. Four independent reviewers conducted a title and abstract screening, hand-searched the reference lists of review papers, and performed a full text review of eligible studies. Included studies were original peer-reviewed full text publications, evaluating the structure and function of the BCNSB in preclinical models of ALS, clinical ALS, or postmortem human ALS tissue. There was no restriction on study design. The four reviewers independently extracted the data.ResultsThe search retrieved 2,221 non-duplicated articles and 48 original studies were included in the synthesis. There was evidence that the integrity of the BCNSB is disrupted throughout the course of the disease in rodent models, beginning prior to symptom onset and detectable neurodegeneration. Increased permeability, pharmacoresistance with upregulated efflux transporters, and morphological changes in the supporting cells of the BCNSB, including pericytes, astrocytes, and endothelial cells were observed in animal models. BCNSB abnormalities were also demonstrated in postmortem studies of ALS patients. Therapeutic interventions targeting BCNSB dysfunction were associated with improved motor neuron survival in animal models of ALS.ConclusionBCNSB structural and functional abnormalities are likely implicated in ALS pathophysiology and may occur upstream to neurodegeneration. Promising therapeutic strategies targeting BCNSB dysfunction have been tested in animals and can be translated into ALS clinical trials.
Case Report: Cerebral Venous Sinus Thrombosis in a Young Child With SARS-CoV-2 Infection: The Italian Experience
Authors: Silvestri Paola , Clemente Anna , Spalice Alberto , Febbo Alessandra , Matera Luigi , Accardo Fabiana , Barbieri Maria Antonietta , Villani Alberto , Midulla Fabio 
Published: March 2022

IntroductionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in pediatric patients is usually characterized by fever, dry cough, and fatigue, or is asymptomatic and rarely presents with pneumonia. On the other hand, cerebral venous sinus thrombosis (CVST) could be a neurological sequela of the prothrombotic state triggered by coronavirus disease 2019 (COVID-19) both in adults and children.Case ReportWe present a case of a 15-year-old male child who was obese and had mild neurocognitive impairment. He was admitted to the pediatric emergency department and then diagnosed with CVST during SARS-CoV-2 infection.ConclusionDuring the COVID-19 pandemic, in patients presenting with neurological manifestations of CVST (headache, alteration of consciousness, focal deficit, or signs of endocranial hypertension), it is advisable to look for a current or recent infection of SARS-CoV-2, regardless of the presence of respiratory symptoms. In our patient, ongoing SARS-CoV-2 infection represents the only prothrombotic risk factor underlying the neurological disease.
Cortical and Subcortical Structural Abnormalities in Patients With Idiopathic Cervical and Generalized Dystonia
Authors: Wu Yunhao , Wang Tao , Ding Qiong , Li Hongxia , Wu Yiwen , Li Dianyou , Sun Bomin , Pan Yixin 
Published: March 2022

ObjectivesIn this study, we sought to investigate structural imaging alterations of patients with idiopathic dystonia at the cortical and subcortical levels. The common and specific changes in two subtypes of dystonia, cervical dystonia (CD) and generalized dystonia (GD), were intended to be explored. Additionally, we sought to identify the morphometric measurements which might be related to patients' clinical characteristics, thus providing more clues of specific brain regions involved in the mechanism of idiopathic dystonia.Methods3D T1-weighted MRI scans were acquired from 56 patients with idiopathic dystonia and 30 healthy controls (HC). Patients were classified as CD or GD, according to the distinct symptom distributions. Cortical thickness (CT) of 30 CD and 26 GD were estimated and compared to HCs using Computational Anatomy Toolbox (CAT12), while volumes of subcortical structures and their shape alterations (29 CD, 25 GD, and 27 HCs) were analyzed via FSL software. Further, we applied correlation analyses between the above imaging measurements with significant differences and patients' clinical characteristics.ResultsThe results of comparisons between the two patient groups and HCs were highly consistent, demonstrating increased CT of bilateral postcentral, superiorparietal, superiorfrontal/rostralmiddlefrontal, occipital gyrus, etc., and decreased CT of bilateral cingulate, insula, entorhinal, and fusiform gyrus (PFWE &lt; 0.005 at the cluster level). In CD, trends of negative correlations were found between disease severity and CT alterations mostly located in pre/postcentral, rostralmiddlefrontal, superiorparietal, and supramarginal regions. Besides, volumes of bilateral putamen, caudate, and thalamus were significantly reduced in both patient groups, while pallidum volume reduction was also presented in GD compared to HCs. Caudate volume reduction had a trend of correlation to increasing disease severity in GD. Last, shape analysis directly demonstrated regional surface alterations in bilateral thalamus and caudate, where the atrophy located in the head of caudate had a trend of correlation to earlier ages of onset in GD.ConclusionsOur study demonstrates wide-spread morphometric changes of CT, subcortical volumes, and shapes in idiopathic dystonia. CD and GD presented similar patterns of morphometric abnormalities, indicating shared underlying mechanisms in two different disease forms. Especially, the clinical associations of CT of multiple brain regions with disease severity, and altered volume/shape of caudate with disease severity/age of onset separately in CD and GD might serve as potential biomarkers for further disease exploration.