bluuebunny/crossref_metadata_2025 huggingface dataset:
Preimplantation genetic testing for recurrent autosomal dominant osteogenesis imperfecta associated with paternal gonosomal mosaicism
Authors: Bai Haiyan , Li Xiaofang , Liu Xitong , Shi Wenhao , He Bin , Wei Ruiyang , Shi Juanzi
Published: October 2022

Research Question: How to prevent the transfer of a mutation causing osteogenesis imperfecta (OI) to offspring in a couple with recurrent adverse pregnancy outcomes, when the male partner is a gonosomal mosaic carrier.

Design: High-throughput sequencing and first-generation DNA sequencing were performed using the tissues from an aborted fetus and its parents. Regions 2 Mb upstream and downstream of the COL1A1 gene were subjected to multiplex PCR to identify single nucleotide polymorphisms (SNPs) and family haplotypes associated with the disease-causing mutation. Single-cell whole-genome amplification and sequencing were performed on trophoblasts cultured in vitro for 5–6 days to construct embryonic SNP haplotypes, and first-generation sequencing was used for pathogenic locus verification and aneuploidy screening. Preimplantation genetic testing for monogenic disorders (PGT-M) was also performed.

Results: The aborted fetus was heterozygous for the COL1A1 mutation c.1454G>A (chr17-48272089, p.Gly485Asp) suspected to cause OI. The variant was also detected in the peripheral blood cells and sperm of the male partner, who appeared to be a gonosomal mosaic carrier of the mutation. Three morphologically usable blastocysts were obtained in vitro and successfully expanded after a trophectoderm biopsy. Two blastocysts were unusable owing to aneuploidy; however, one was euploid and did not carry the paternal mutation. Post-transfer gestation was confirmed by systematic B-scan ultrasound, and amniocentesis findings were consistent with the PGT-M results.

Conclusion: Parental gonadal mosaicism was the cause of recurrent terminated pregnancies due to fetal skeletal dysplasia. Using PGT-M to select embryos without the paternal pathogenic mutation prevented the vertical transmission of OI in this family, and a successful pregnancy was achieved.
Targeted nanoparticles modify neutrophil function in vivo
Authors: Völs Sandra , Kaisar-Iluz Naomi , Shaul Merav E. , Ryvkin Arik , Ashkenazy Haim , Yehuda Avishag , Atamneh Ronza , Heinberg Adina , Ben-David-Naim Meital , Nadav Menucha , Hirsch Shira , Mitesser Vera , Salpeter Seth J. , Dzikowski Ron , Hayouka Zvi , Gershoni Jonathan M. , Fridlender Zvi G. , Granot Zvi
Published: October 2022

Neutrophils play critical roles in a broad spectrum of clinical conditions. Accordingly, manipulation of neutrophil function may provide a powerful immunotherapeutic approach. However, due to neutrophils characteristic short half-life and their large population number, this possibility was considered impractical. Here we describe the identification of peptides which specifically bind either murine or human neutrophils. Although the murine and human neutrophil-specific peptides are not cross-reactive, we identified CD177 as the neutrophil-expressed binding partner in both species. Decorating nanoparticles with a neutrophil-specific peptide confers neutrophil specificity and these neutrophil-specific nanoparticles accumulate in sites of inflammation. Significantly, we demonstrate that encapsulating neutrophil modifying small molecules within these nanoparticles yields specific modulation of neutrophil function (ROS production, degranulation, polarization), intracellular signaling and longevity both in vitro and in vivo. Collectively, our findings demonstrate that neutrophil specific targeting may serve as a novel mode of immunotherapy in disease.
Stress and cancer: The mechanisms of immune dysregulation and management
Authors: Liu Yixin , Tian Sheng , Ning Biao , Huang Tianhe , Li Yi , Wei Yongchang
Published: October 2022

Advances in the understanding of psychoneuroimmunology in the past decade have emphasized the notion that stress and cancer are interlinked closely. Durable chronic stress accelerated tumorigenesis and progression, which is unfavorable for clinical outcomes of cancer patients. Available evidence has provided unprecedented knowledge about the role and mechanisms of chronic stress in carcinogenesis, the most well-known one is dysfunction of the hypothalamus-pituitary-adrenal (HPA) axis and the sympathetic nervous system (SNS). With abnormal activation of neuroendocrine system, stress-related hormones contribute to increased oncogenes expression, exacerbated chronic inflammation and impaired immunologic function. In addition, accumulating studies have demonstrated that diverse stress interventions including pharmacological approaches, physical exercises and psychological relaxation have been administered to assist in mental disorders reduction and life quality improvement in cancer patients. In this review, we systematically summarize the connection and mechanisms in the stress-immune-cancer axis identified by animal and clinical studies, as well as conclude the effectiveness and deficiencies of existing stress management strategies.
Tissue resident memory T cells- A new benchmark for the induction of vaccine-induced mucosal immunity
Authors: Hassert Mariah , Harty John T.
Published: October 2022

Historically, the gold-standard benchmark for vaccine immunogenicity has been the induction of neutralizing antibodies detectable in the serum of peripheral blood. However, in recent years there has been a new appreciation for the mucosa as an important site for vaccine induced immunity. As a point of first contact, the mucosal tissue represents a major site of immune based detection and restriction of pathogen entry and dissemination. Tissue resident memory T cells (Trm) are one of the critical cell types involved in this early detection and restriction of mucosal pathogens. Following tissue-specific infection or vaccination, Trmlodge themselves within tissues and can perform rapid sensing and alarm functions to control local re-infections, in an effort that has been defined as important for restriction of a number of respiratory pathogens including influenza and respiratory syncytial virus. Despite this characterized importance, only minor attention has been paid to the importance of Trmas a benchmark for vaccine immunogenicity. The purpose of this review is to highlight the functions of Trmwith particular emphasis on respiratory infections, and to suggest the inclusion of Trmelicitation as a benchmark for vaccine immunogenicity in animal models, and where possible, human samples.
Th17 cells in primary Sjögren’s syndrome negatively correlate with increased Roseburia and Coprococcus
Authors: Xin Xiaohong , Wang Qian , Qing Jianbo , Song Wenzhu , Gui Yanni , Li Xiaofeng , Li Yafeng
Published: October 2022

Background

Dysbiosis of the gut microbiota is closely related to chronic systemic inflammation and autoimmunity, playing an essential role in the pathogenesis of primary Sjögren’s syndrome (pSS). Abnormalities in the proportions of blood T lymphocyte subtype, that is Th17/Treg, were detected in pSS patients. We aimed to determine the associations between gut microbiota and Th17/Treg in pSS.

Method

98 pSS patients and 105 healthy controls (NC) were enrolled between Dec 1, 2018, and Aug 31, 2019. The baseline information and clinical parameters on pSS patients and healthy controls were collected. 16S rRNA sequencing was performed to characterize the gut microbiome and identify gut microbes that are differentially abundant between patients and healthy controls. Lastly, associations between relative abundances of specific bacterial taxa in the gut and clinical outcome parameters were evaluated.

Results

Patients with pSS show decreased gut microbial diversity and richness, decreased abundance of butyrate producing bacteria, such as Roseburia and Coprococcus, and increased abundance of other taxa, such as Eubacterium rectale and Roseburia inulinivorans. These bacteria are enriched with functions related to glycolytic and lipogenic, energy, substance, galactose, pentose metabolism pathways and glucuronate interconversions, decreased with functions related to peptidoglycan biosynthesis, pyrimidine metabolism pathways. An integrative analysis identified pSS-related specific bacterial taxa in the gut, for which the abundance of Eubacterium rectale is negatively correlated with Th17/Treg. Furthermore, the pathways of biosynthesis of secondary metabolites, biosynthesis of amino acids, peptidoglycan biosynthesis and pyrimidine, galactose, pentose, microbial metabolism in diverse environments, glyoxylate and dicarboxylate metabolism are associated with Treg or Th17/Treg.

Conclusions

Primary Sjögren’s syndrome could lead to decreased gut microbial diversity and richness of intestinal flora in patients. The proportions of Th17 and Treg cells induced by microbiota were predictive pSS manifestations and accounted for the pSS severity.
Lipid metabolism disorders of hybrid grouper (♀Epinephelus fuscointestinestatus × ♂E. lanceolatu) induced by high-lipid diet
Authors: Suo Xiangxiang , Yan Xiaobo , Tan Beiping , Pan Simiao , Li Tao , Liu Hao , Huang Weibin , Zhang Shuang , Yang Yuanzhi , Dong Xiaohui
Published: October 2022

This study investigated the effect of lipid levels on growth, body composition, lipid metabolism enzymes activity and related genes expression in hybrid grouper (♀Epinephelus fuscointestinestatus× ♂E. lanceolatu). Three diets with different lipid levels of 6% (low-lipid feed, LF), 11% (medium-lipid feed, MF) and 16% (high-lipid feed, HF) were designed and each diet was fed to triplicate groups of 30 fish each (6.73 ± 0.00g) for eight weeks. The results revealed the following. 1) The maximum weight gain rate (WGR), specific growth rate (SGR), protein efficiency ratio (PER) and the lowest feed conversion ratio (FCR) values were found in the HF group. There was no significant difference in the survival rate (SR) among the groups (P> 0.05). 2) Condition factor (CF), hepatosomatic index (HSI) and visceralsomatic index (VSI) increased with increasing dietary lipid. 3) Crude lipid content in the whole-body and muscle increased significantly as the dietary lipid level increased (P< 0.05). 4) Principal component analysis of fatty acids showed that sum n-3 polyunsaturated fatty acids (∑n-3PUFA)/sum n-6 polyunsaturated fatty acids (∑n-6PUFA) was significantly higher in the HF group than in the other two groups (P< 0.05). 5) Biochemical serum indexes showed higher triglycerides (TG), total cholesterol (TC), alkaline phosphatase (AKP) and low-density lipoprotein-cholesterol (LDL-C) levels but lower high-density lipoprotein-cholesterol (HDL-C) level in the HF group. 6) Liver lipid metabolism enzymes activity and biochemical indicators showed that fish fed the MF diet had higher lipoprotein lipase (LPL), hepatic lipase (HL) and triglyceride lipase (ATGL) activity but lower fatty acid synthase (FAS) activity and very-low density lipoprotein-cholesterol (VLDL-C) level. 7) The relative expression levels of lipoprotein lipase (lpl), adipocyte-type fatty acid-binding protein (a-fabp), liver-type fatty acid-binding protein (l-fabp), heart-type fatty acid-binding protein (h-fabp) and hormone-sensitive lipase (hsl) genes in the fish liver were higher in the MF group with increasing dietary lipid (P< 0.05), while the fatty acid synthase (fas) gene was expressed at lower relative level (P< 0.05). 8) Histological oil-red sections of the liver showed that fish in the HF group had larger and more hepatic lipid droplets than those fed the other diets. It was concluded that fish fed the HF diet had better growth performance but this diet was not conducive to the progress of lipid metabolism, resulting in lipid accumulation and affecting the quality of the fish. This study provides useful information for the formulation of environmentally friendly and cost-effective diets for hybrid grouper.
Renal involvement as a unique manifestation of hemophagocytic syndrome
Authors: Roccatello Dario , Sciascia Savino , Barreca Antonella , Naretto Carla , Alpa Mirella , Quattrocchio Giacomo , Radin Massimo , Fenoglio Roberta
Published: October 2022

Renal-limited hemophagocytic syndrome (HPS) is a rare clinical setting characterized by abnormal activation of the immune system. Fever associated with pancytopenia, hepatosplenomegaly with liver dysfunction, and hypofibrinogenemia are usually observed in HPS. From a histological level, the presence of non-malignant macrophages infiltrating bone marrow and organs represents the hallmark of this condition. Non-malignant macrophages are associated with phagocytizing activities involving other blood cells. While primary HPS is usually associated with inherited dysregulation of the immune system, secondary HPS usually occurs in the context of infection or is linked to a neoplastic process. Clinical presentation varies and can potentially lead to life-threatening settings. While renal involvement has frequently been reported, however, detailed descriptions of the kidney manifestations of HPS are lacking. More critically, the diagnosis of HPS is rarely supported by renal biopsy specimens. We report four rare cases of biopsy-proven renal-limited HPS in patients presenting with acute kidney injury (AKI). The available evidence on this topic is critically discussed in light of the possible emergence of an autonomous entity characterized by an isolated kidney involvement.
CellDestiny: A RShiny application for the visualization and analysis of single-cell lineage tracing data
Authors: Hadj Abed Louisa , Tak Tamar , Cosgrove Jason , Perié Leïla
Published: October 2022

Single-cell lineage tracing permits the labeling of individual cells with a heritable marker to follow the fate of each cell’s progeny. Over the last twenty years, several single-cell lineage tracing methods have emerged, enabling major discoveries in developmental biology, oncology and gene therapies. Analytical tools are needed to draw meaningful conclusions from lineage tracing measurements, which are characterized by high variability, sparsity and technical noise. However, the single cell lineage tracing field lacks versatile and easy-to-use tools for standardized and reproducible analyses, in particular tools accessible to biologists. Here we present CellDestiny, a RShiny app and associated web application developed for experimentalists without coding skills to perform visualization and analysis of single cell lineage-tracing datasets through a graphical user interface. We demonstrate the functionality of CellDestiny through the analysis of (i) lentiviral barcoding datasets of murine hematopoietic progenitors; (ii) published integration site data from Wiskott-Aldrich Symdrome patients undergoing gene-therapy treatment; and (iii) simultaneous barcoding and transcriptomic analysis of murine hematopoietic progenitor differentiation in vitro. In summary, CellDestiny is an easy-to-use and versatile toolkit that enables biologists to visualize and analyze single-cell lineage tracing data.
Skin scarring: Latest update on objective assessment and optimal management
Authors: Basson Rubinder , Bayat Ardeshir
Published: October 2022

Although skin scarring is considered by some to be a minor, unavoidable consequence in response to skin injury, for many patients, cosmetically unsightly scars may cause uncomfortable symptoms and loss of function plus significant psycho-social distress. Despite their high prevalence and commonality, defining skin scars and their optimal management has proven problematic. Therefore, a literature search to assess the current evidence-base for scarring treatment options was conducted, and only those deemed Levels of Evidence 1 or 2 were included. Understanding the spectrum of skin scarring in the first instance is imperative, and is mainly comprised of four distinct endotypes; Stretched (flat), Contracted, Atrophic, and Raised for which the acronym S.C.A.R. may be used. Traditionally, scar assessment and response to therapy has employed the use of subjective scar scales, although these are now being superseded by non-invasive, objective and quantitative measurement devices. Treatment options will vary depending on the specific scar endotype, but fall under one of 3 main categories: (1) Leave alone, (2) Non-invasive, (3) Invasive management. Non-invasive (mostly topical) management of skin scarring remains the most accessible, as many formulations are over-the-counter, and include silicone-based, onion extract-based, and green tea-based, however out of the 52 studies identified, only 28 had statistically significant positive outcomes. Invasive treatment options includes intralesional injections with steroids, 5-FU, PDT, and laser with surgical scar excision as a last resort especially in keloid scar management unless combined with an appropriate adjuvant therapy. In summary, scar management is a rapidly changing field with an unmet need to date for a structured and validated approach.
Factors associated with hemorrhagic fever with renal syndrome based maximum entropy model in Zhejiang Province, China
Authors: Zhang Rong , Zhang Ning , Liu Ying , Liu Tianxiao , Sun Jimin , Ling Feng , Wang Zhen
Published: October 2022

Background

Hemorrhagic fever with renal syndrome (HFRS) is a serious public health problem in China. The geographic distribution has went throughout China, among which Zhejiang Province is an important epidemic area. Since 1963, more than 110,000 cases have been reported.

Methods

We collected the meteorological factors and socioeconomic indicators of Zhejiang Province, and constructed the HFRS ecological niche model of Zhejiang Province based on the algorithm of maximum entropy.

Results

Model AUC from 2009 to 2018, is 0.806–0.901. The high incidence of epidemics in Zhejiang Province is mainly concentrated in the eastern, western and central regions of Zhejiang Province. The contribution of digital elevation model ranged from 2009 to 2018 from 4.22 to 26.0%. The contribution of average temperature ranges from 6.26 to 19.65%, Gross Domestic Product contribution from 7.53 to 21.25%, and average land surface temperature contribution with the highest being 16.73% in 2011. In addition, the average contribution of DMSP/OLS, 20-8 precipitation and 8-20 precipitation were all in the range of 9%. All-day precipitation increases with the increase of rainfall, and the effect curve peaks at 1,250 mm, then decreases rapidly, and a small peak appears again at 1,500 mm. Average temperature response curve shows an inverted v-shape, where the incidence peaks at 17.8°C. The response curve of HFRS for GDP and DMSP/OLS shows a positive correlation.

Conclusion

The incidence of HFRS in Zhejiang Province peaked in areas where the average temperature was 17.8°C, which reminds that in the areas where temperature is suitable, personal protection should be taken when going out as to avoid contact with rodents. The impact of GDP and DMSP/OLS on HFRS is positively correlated. Most cities have good medical conditions, but we should consider whether there are under-diagnosed cases in economically underdeveloped areas.
Safety management in times of crisis: Lessons learned from a nationwide status-analysis on German intensive care units during the COVID-19 pandemic
Authors: Schmidt Michelle , Lambert Sophie Isabelle , Klasen Martin , Sandmeyer Benedikt , Lazarovici Marc , Jahns Franziska , Trefz Lara Charlott , Hempel Gunther , Sopka Saša
Published: October 2022

Background

The status of Safety Management is highly relevant to evaluate an organization's ability to deal with unexpected events or errors, especially in times of crisis. However, it remains unclear to what extent Safety Management was developed and sufficiently implemented within the healthcare system during the COVID-19 pandemic. Providing insights of potential for improvement is expected to be directional for ongoing Safety Management efforts, in times of crisis and beyond.

Method

A nationwide survey study was conducted among healthcare professionals and auxiliary staff on German Intensive Care Units (ICUs) evaluating their experiences during the first wave of the COVID-19 pandemic. Error Management and Patient Safety Culture (PSC) measures served to operationalize Safety Management. Data were analyzed descriptively and by using quantitative content analysis (QCA).

Results

Results for n = 588 participants from 53 hospitals show that there is a gap between errors occurred, reported, documented, and addressed. QCA revealed that low quality of safety culture (27.8%) was the most mentioned reason for errors not being addressed. Overall, ratings of PSC ranged from 26.7 to 57.9% positive response with Staffing being the worst and Teamwork Within Units being the best rated dimension. While assessments showed a similar pattern, medical staff rated PSC on ICUs more positively in comparison to nursing staff.

Conclusion

The status-analysis of Safety Management in times of crisis revealed relevant potential for improvement. Human Factor plays a crucial role in the occurrence and the way errors are dealt with on ICUs, but systemic factors should not be underestimated. Further intensified efforts specifically in the fields of staffing and error reporting, documentation and communication are needed to improve Safety Management on ICUs. These findings might also be applicable across nations and sectors beyond the medical field.
The Zinc-Finger protein ZCCHC3 inhibits LINE-1 retrotransposition
Authors: Zhang Zixiong , Zhang Ning , Guo Saisai , Liu Qian , Wang Shujie , Zhang Ao , Yi Dongrong , Zhao Jianyuan , Li Quanjie , Wang Jing , Zhang Yongxin , Ma Ling , Ding Jiwei , Cen Shan , Li Xiaoyu
Published: October 2022

Long-interspersed element 1 (LINE-1) is an autonomous non-LTR retrotransposon. Its replication can cause mutation and rearrangement of host genomic DNA, which may result in serious genetic diseases. Host cells therefore developed defense strategies to restrict LINE-1 mobilization. In this study, we reported that CCHC-type zinc-finger protein ZCCHC3 can repress LINE-1 retrotransposition, and this activity is closely related to its zinc-finger domain. Further studies show that ZCCHC3 can post-transcriptionally diminish the LINE-1 RNA level. The association of ZCCHC3 with both LINE-1 RNA and ORF1 suggests that ZCCHC3 interacts with LINE-1 RNP and consequently causes its RNA degradation. These data demonstrate collectively that ZCCHC3 contributes to the cellular control of LINE-1 replication.
Microbiome characterization of alpine water springs for human consumption reveals site- and usage-specific microbial signatures
Authors: Pedron Renato , Esposito Alfonso , Cozza William , Paolazzi Massimo , Cristofolini Mario , Segata Nicola , Jousson Olivier
Published: October 2022

The microbiome of water springs is gaining increasing interest, especially in water intended for human consumption. However, the knowledge about large-scale patterns in water springs microbiome is still incomplete. The presence of bacteria in water sources used for human consumption is a major concern for health authorities; nonetheless, the standard microbiological quality checks are focused only on pathogenic species and total microbial load. Using 16S rRNA high throughput sequencing, we characterized the microbiome from 38 water springs in Trentino (Northern Italy) for 2 consecutive years in order to gain precious insights on the microbiome composition of these unexplored yet hardly exploited environments. The microbiological studies were integrated with standard measurements of physico-chemical parameters performed by the Provincial Office for Environmental Monitoring in order to highlight some of the dynamics influencing the microbial communities of these waters. We found that alpha diversity showed consistent patterns of variation overtime, and showed a strong positive correlation with the water nitrate concentration and negatively with fixed residue, electrical conductivity, and calcium concentration. Surprisingly, alpha diversity did not show any significant correlation with neither pH nor temperature. We found that despite their remarkable stability, different water springs display different coefficients of variation in alpha diversity, and that springs used for similar purposes showed similar microbiomes. Furthermore, the springs could be grouped according to the number of shared species into three major groups: low, mid, and high number of shared taxa, and those three groups of springs were consistent with the spring usage. Species belonging to the phyla Planctomycetes and Verrucomicrobia were prevalent and at relatively high abundance in springs classified as low number of shared species, whereas the phylum Lentisphaerae and the Candidate Phyla radiation were prevalent at higher abundance in the mineral and potable springs. The present study constitutes an example for standard water spring monitoring integrated with microbial community composition on a regional scale, and provides information which could be useful in the design and application of future water management policies in Trentino.
Analysis and comparison of electron radiation damage assessments in Cryo-EM by single particle analysis and micro-crystal electron diffraction
Authors: Shi Dan , Huang Rick
Published: October 2022

Electron radiation damage to macromolecules is an inevitable resolution limit factor in all major structural determination applications using cryo-electron microscopy (cryo-EM). Single particle analysis (SPA) and micro-crystal electron diffraction (MicroED) have been employed to assess radiation damage with a variety of protein complexes. Although radiation induced sidechain density loss and resolution decay were observed by both methods, the minimum dose of electron irradiation reducing high-resolution limit reported by SPA is more than ten folds higher than measured by MicroED using the conventional dose concept, and there is a gap between the attained resolutions assessed by these two methods. We compared and analyzed these two approaches side-by-side in detail from several aspects to identify some crucial determinants and to explain this discrepancy. Probability of a high energy electron being inelastically scattered by a macromolecule is proportional to number of layers of the molecules in its transmission path. As a result, the same electron dose could induce much more site-specific damage to macromolecules in 3D protein crystal than single particle samples. Major differences in data collection and processing scheme are the key factors to different levels of sensitivity to radiation damage at high resolution between the two methods. High resolution electron diffraction in MicroED dataset is very sensitive to global damage to 3D protein crystals with low dose accumulation, and its intensity attenuation rates at atomic resolution shell could be applied for estimating ratio of damaged and total selected single particles for SPA. More in-depth systematically radiation damage assessments using SPA and MicroED will benefit all applications of cryo-EM, especially cellular structure analysis by tomography.
A transfer learning approach based on gradient boosting machine for diagnosis of Alzheimer’s disease
Authors: Shojaie Mehdi , Cabrerizo Mercedes , DeKosky Steven T. , Vaillancourt David E. , Loewenstein David , Duara Ranjan , Adjouadi Malek
Published: October 2022

Early detection of Alzheimer’s disease (AD) during the Mild Cognitive Impairment (MCI) stage could enable effective intervention to slow down disease progression. Computer-aided diagnosis of AD relies on a sufficient amount of biomarker data. When this requirement is not fulfilled, transfer learning can be used to transfer knowledge from a source domain with more amount of labeled data than available in the desired target domain. In this study, an instance-based transfer learning framework is presented based on the gradient boosting machine (GBM). In GBM, a sequence of base learners is built, and each learner focuses on the errors (residuals) of the previous learner. In our transfer learning version of GBM (TrGB), a weighting mechanism based on the residuals of the base learners is defined for the source instances. Consequently, instances with different distribution than the target data will have a lower impact on the target learner. The proposed weighting scheme aims to transfer as much information as possible from the source domain while avoiding negative transfer. The target data in this study was obtained from the Mount Sinai dataset which is collected and processed in a collaborative 5-year project at the Mount Sinai Medical Center. The Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset was used as the source domain. The experimental results showed that the proposed TrGB algorithm could improve the classification accuracy by 1.5 and 4.5% for CN vs. MCI and multiclass classification, respectively, as compared to the conventional methods. Also, using the TrGB model and transferred knowledge from the CN vs. AD classification of the source domain, the average score of early MCI vs. late MCI classification improved by 5%.
Method for persistent topological features extraction of schizophrenia patients’ electroencephalography signal based on persistent homology
Authors: Guo Guangxing , Zhao Yanli , Liu Chenxu , Fu Yongcan , Xi Xinhua , Jin Lizhong , Shi Dongli , Wang Lin , Duan Yonghong , Huang Jie , Tan Shuping , Yin Guimei
Published: October 2022

With the development of network science and graph theory, brain network research has unique advantages in explaining those mental diseases, the neural mechanism of which is unclear. Additionally, it can provide a new perspective in revealing the pathophysiological mechanism of brain diseases from the system level. The selection of threshold plays an important role in brain networks construction. There are no generally accepted criteria for determining the proper threshold. Therefore, based on the topological data analysis of persistent homology theory, this study developed a multi-scale brain network modeling analysis method, which enables us to quantify various persistent topological features at different scales in a coherent manner. In this method, the Vietoris–Rips filtering algorithm is used to extract dynamic persistent topological features by gradually increasing the threshold in the range of full-scale distances. Subsequently, the persistent topological features are visualized using barcodes and persistence diagrams. Finally, the stability of persistent topological features is analyzed by calculating the Bottleneck distances and Wasserstein distances between the persistence diagrams. Experimental results show that compared with the existing methods, this method can extract the topological features of brain networks more accurately and improves the accuracy of diagnostic and classification. This work not only lays a foundation for exploring the higher-order topology of brain functional networks in schizophrenia patients, but also enhances the modeling ability of complex brain systems to better understand, analyze, and predict their dynamic behaviors.
A lesion extending three or more slices as a predictor of progressive infarction in anterior circulation small subcortical infarction
Authors: Lin Jing , Mao Xiaocheng , Liao Yunfang , Luo Si , Huang Qin , Song Ziwei , Li Shumeng , Li Chengjin , Qiu Yuexin , Wu Yuhang , Zhu Min , Li Xiaobing , Yu Qiulong , Hong Daojun
Published: October 2022

Progressive infarction (PI) is common in small subcortical infarction and may lead to a poor outcome. The purpose of our study is to identify neuroimaging predictors for PI. From April 2017 to December 2020, we enrolled 86 patients with an anterior circulation subcortical infarction within 48 h after onset. Progressive infarction was defined by an increase of ≥ one point in motor power or ≥ two points in the total National Institute of Health Stroke Scale score within 7 days after admission and further confirmed by diffusion-weighted imaging (DWI). To identify predictors, demographic characteristics, clinical information, laboratory date, and neuroimaging characteristics were evaluated. The infarct size and infarct slice number were measured by DWI. We found that thirty-one patients (36%) had PI. In a univariate analysis, the patients with PI had higher levels of triglyceride, lower levels of blood urea nitrogen and prothrombin time, and a higher frequency of infarct slice number ≥ three compared to the patients without PI. After logistic regression stepwise adjustment for all considered relevant confounders, infarct slice number ≥ three slices proved to be independently associated with PI (OR = 4.781, 95% CI 1.677–13.627; OR = 4.867, 95% CI 1.6–14.864; OR = 3.584, 95% CI 1.034–12.420). Our study showed that a lesion extending ≥ three slices on DWI is an independent predictor for progressive infarction in patients with anterior circulation small subcortical infarction.
Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study
Authors: Mori Laura , Schenone Cristina , Cotellessa Filippo , Ponzano Marta , Aiello Alessia , Lagostina Maria , Massucco Sara , Marinelli Lucio , Grandis Marina , Trompetto Carlo , Schenone Angelo
Published: October 2022

Charcot-Marie-Tooth (CMT) patients present mainly lower limbs disability, with slowly progressive distal muscle weakness and atrophy, but hands impairment is a relevant problem affecting the quality of life (QoL). The evaluation of the upper limb is of primary importance. Often these patients present subclinical disorders or report difficulties in manipulating objects, with little evidence in the most used outcome measures. We aim to investigate the impact of hand impairment in the perceived QoL of CMT persons and secondly whether the Disability of Arm, Shoulder and Hand (DASH) scale can be useful in assessing upper limb abilities in CMT. We recruited 23 patients with confirmed genetic diagnosis of CMT. We performed a clinical evaluation with Sollerman Hand Function Test (SHFT), Thumb Opposition Test (TOT) and CMT examination score (CMTES). We completed the clinical assessment with DASH scale and the Short form 36 (SF36) questionnaire for a subjective evaluation of upper limb disability and quality of life. All patients also underwent an instrumental evaluation with a hand-held dynamometer measuring hand grip and tripod pinch and a sensor-engineered glove test (SEGT) to evaluate finger opposition movements in a quantitative spatial-temporal way. As expected, we found significant differences between CMT and control group performances in both clinical and instrumental assessment. Concerning QoL, we found that total score of SF36 and the SF36 Physical Composite Score (PCS) correlate with all clinical and instrumental Outcome Measures (OMs), particularly with Tripod pinch strength and TOT, which are considered major determinants of manual dexterity in CMT. DASH scale correlates with most clinical and instrumental OMs. Not surprisingly, we also found a correlation with DASH work, because CMT affects young patients engaged in work activities. However, we found a low correlation with the TOT and the dynamometer suggesting that DASH may not be the best scale for remote monitoring of upper limb disorders in CMT patients. Nevertheless, the results of our study confirm the usefulness of SF36 in recognizing the impact of upper limb disability in these subjects suggesting its use even in the remote monitoring of physical functioning.
Risk factors of late lesion growth after acute ischemic stroke treatment
Authors: Konduri Praneeta , Bucker Amber , Boers Anna , Dutra Bruna , Samuels Noor , Treurniet Kilian , Berkhemer Olvert , Yoo Albert , van Zwam Wim , van Oostenbrugge Robert , van der Lugt Aad , Dippel Diederik , Roos Yvo , Bot Joost , Majoie Charles , Marquering Henk ,   the MR CLEAN Trial Investigators (Multicenter Randomized Clinical Trial of Endovascular Treatment for Acute Ischemic Stroke in the Netherlands)
Published: October 2022

Background

Even days after treatment of acute ischemic stroke due to a large vessel occlusion, the infarct lesion continues to grow. This late, subacute growth is associated with unfavorable functional outcome. In this study, we aim to identify patient characteristics that are risk factors of late, subacute lesion growth.

Methods

Patients from the MR CLEAN trial cohort with good quality 24 h and 1-week follow up non-contrast CT scans were included. Late Lesion growth was defined as the difference between the ischemic lesion volume assessed after 1-week and 24-h. To identify risk factors, patient characteristics associated with lesion growth (categorized in quartiles) in univariable ordinal analysis (p < 0.1) were included in a multivariable ordinal regression model.

Results

In the 226 patients that were included, the median lesion growth was 22 (IQR 10–45) ml. In the multivariable model, lower collateral capacity [aOR: 0.62 (95% CI: 0.44–0.87); p = 0.01], longer time to treatment [aOR: 1.04 (1–1.08); p = 0.04], unsuccessful recanalization [aOR: 0.57 (95% CI: 0.34–0.97); p = 0.04], and larger midline shift [aOR: 1.18 (95% CI: 1.02–1.36); p = 0.02] were associated with late lesion growth.

Conclusion

Late, subacute, lesion growth occurring between 1 day and 1 week after ischemic stroke treatment is influenced by lower collateral capacity, longer time to treatment, unsuccessful recanalization, and larger midline shift. Notably, these risk factors are similar to the risk factors of acute lesion growth, suggesting that understanding and minimizing the effects of the predictors for late lesion growth could be beneficial to mitigate the effects of ischemia.
Global trends and hot topics in electrical stimulation of skeletal muscle research over the past decade: A bibliometric analysis
Authors: Huang Yi , Gong Yuxiang , Liu Yu , Lu Jianqiang
Published: October 2022

Background

Over the past decade, numerous advances have been made in the research on electrical stimulation of skeletal muscle. However, the developing status and future direction of this field remain unclear. This study aims to visualize the evolution and summarize global research hot topics and trends based on quantitative and qualitative evidence from bibliometrics.

Methods

Literature search was based on the Web of Science Core Collection (WoSCC) database from 2011 to 2021. CiteSpace and VOSviewer, typical bibliometric tools, were used to perform analysis and visualization.

Results

A total of 3,059 documents were identified. The number of literature is on the rise in general. Worldwide, researchers come primarily from North America and Europe, represented by the USA, France, Switzerland, and Canada. The Udice French Research Universities is the most published affiliation. Millet GY and Maffiuletti NA are the most prolific and the most co-cited authors, respectively. Plos One is the most popular journal, and the Journal of Applied Physiology is the top co-cited journal. The main keywords are muscle fatigue, neuromuscular electrical stimulation, spinal cord injury, tissue engineering, and atrophy. Moreover, this study systematically described the hotspots in this field.

Conclusion

As the first bibliometric analysis of electrical stimulation of skeletal muscle research over the past decade, this study can help scholars recognize hot topics and trends and provide a reference for further exploration in this field.
The role of arousal and motivation in emotional conflict resolution: Implications for spinal cord injury
Authors: Pecchinenda Anna , Gonzalez Pizzio Adriana Patrizia , Salera Claudia , Pazzaglia Mariella
Published: October 2022

Under many conditions, emotional information is processed with priority and it may lead to cognitive conflict when it competes with task-relevant information. Accordingly, being able to ignore emotional information relies on cognitive control. The present perspective offers an integrative account of the mechanism that may underlie emotional conflict resolution in tasks involving response activation. We point to the contribution of emotional arousal and primed approach or avoidance motivation in accounting for emotional conflict resolution. We discuss the role of arousal in individuals with impairments in visceral pathways to the brain due to spinal cord lesions, as it may offer important insights into the “typical” mechanisms of emotional conflict control. We argue that a better understanding of emotional conflict control could be critical for adaptive and flexible behavior and has potential implications for the selection of appropriate therapeutic interventions.
The role of neurotransmitter systems in mediating deep brain stimulation effects in Parkinson’s disease
Authors: Alosaimi Faisal , Boonstra Jackson Tyler , Tan Sonny , Temel Yasin , Jahanshahi Ali
Published: October 2022

Deep brain stimulation (DBS) is among the most successful paradigms in both translational and reverse translational neuroscience. DBS has developed into a standard treatment for movement disorders such as Parkinson’s disease (PD) in recent decades, however, specific mechanisms behind DBS’s efficacy and side effects remain unrevealed. Several hypotheses have been proposed, including neuronal firing rate and pattern theories that emphasize the impact of DBS on local circuitry but detail distant electrophysiological readouts to a lesser extent. Furthermore, ample preclinical and clinical evidence indicates that DBS influences neurotransmitter dynamics in PD, particularly the effects of subthalamic nucleus (STN) DBS on striatal dopaminergic and glutamatergic systems; pallidum DBS on striatal dopaminergic and GABAergic systems; pedunculopontine nucleus DBS on cholinergic systems; and STN-DBS on locus coeruleus (LC) noradrenergic system. DBS has additionally been associated with mood-related side effects within brainstem serotoninergic systems in response to STN-DBS. Still, addressing the mechanisms of DBS on neurotransmitters’ dynamics is commonly overlooked due to its practical difficulties in monitoring real-time changes in remote areas. Given that electrical stimulation alters neurotransmitter release in local and remote regions, it eventually exhibits changes in specific neuronal functions. Consequently, such changes lead to further modulation, synthesis, and release of neurotransmitters. This narrative review discusses the main neurotransmitter dynamics in PD and their role in mediating DBS effects from preclinical and clinical data.
The promotion mechanism of prebiotics for probiotics: A review
Authors: You Siyong , Ma Yuchen , Yan Bowen , Pei Wenhui , Wu Qiming , Ding Chao , Huang Caoxing
Published: October 2022

Prebiotics and probiotics play a positive role in promoting human nutrition and health. Prebiotics are compounds that cannot be digested by the host, but can be used and fermented by probiotics, so as to promote the reproduction and metabolism of intestinal probiotics for the health of body. It has been confirmed that probiotics have clinical or health care functions in preventing or controlling intestinal, respiratory, and urogenital infections, allergic reaction, inflammatory bowel disease, irritable bowel syndrome and other aspects. However, there are few systematic summaries of these types, mechanisms of action and the promotion relationship between prebiotics and probiotic. Therefore, we summarized the various types of prebiotics and probiotics, their individual action mechanisms, and the mechanism of prebiotics promoting probiotics in the intestinal tract. It is hoped this review can provide new ideas for the application of prebiotics and probiotics in the future.
Effects of methyl salicylate pre-treatment on the volatile profiles and key gene expressions in tomatoes stored at low temperature
Authors: Zeng Xiangquan , Wang Libin , Fu Yingli , Zuo Jinhua , Li Yan , Zhao Jingling , Cao Rui , Li Jian
Published: October 2022

Tomato is one of the most widely cultivated horticultural plants in the world, while the key volatile compounds of tomato fruits generally derive from fatty acid, carotenoid, phenylalanine, and branched-chain amino acid pathways. As an important endogenous signal molecule, methyl salicylate (MeSA) plays a crucial role in the fruit ripening process of plant. Recently, it has been demonstrated that MeSA can maintain the flavor quality of full ripe tomatoes after cold-storage preservation. However, few research teams attempted to investigate the effects of MeSA plus low temperature treatment on the different volatile biosynthetic pathways of tomatoes previously. Therefore, in this study, the effects of methyl salicylate pre-treatment (0.05 mM MeSA, 24 h) on the volatile profile and flavor-related key gene expressions of tomato fruits stored at 10°C were evaluated for the first time. Our results showed that the loss of volatile compounds in low temperature-treated tomato fruits could be effectively alleviated by MeSA pre-treatment. Although MeSA had no remarkable effect on the formation of carotenoid pathway- and branched-chain amino acid pathway-related volatiles in tomatoes subjected to low temperature, the content of fatty acid pathway-related volatiles (including cis-3-hexenal, hexanal, and trans-2-hexenal) in full red fruits of 10°C MeSA group was remarkably higher than that of 10°C control group. Furthermore, MeSA pre-treatment significantly up-regulated the expression of LOXC or LOXD gene in low temperature-treated fruits at breaker or full red stage, respectively. In conclusion, pre-treatment with MeSA might avoid the loss of aromatic compounds in tomato fruits stored at low temperature by activating the fatty acid pathway.
A review of extraction, purification, structural properties and biological activities of legumes polysaccharides
Authors: Zhu Yingying , Feng Xuewei , Guo Jianhang , Wang Li , Guo Xudan , Zhu Xiangzhen
Published: October 2022

In recent years, polysaccharides derived from legumes polysaccharides have aroused worldwide interests. Phytochemical and pharmacological studies have studied the physicochemical properties (emulsification, stability and foaming) and demonstrated the biological activities (immune regulation, anti-oxidation, anti-tumor, hypoglycemic, hypolipidemic and intestinal flora regulation) of legumes polysaccharides. Besides, it is reported that the extraction methods will affect the structural features of polysaccharides, thus further changing their physicochemical properties and biological activities. This review appraised the available literatures described the extraction, purification, structural characterization, biological activity and functional properties of legumes polysaccharides in recent years. It can provide useful research underpinnings and updated information for the development and application of related polysaccharides in functional food and medicinal field.