bluuebunny/crossref_metadata_2025 huggingface dataset:
CardioNet: a manually curated database for artificial intelligence-based research on cardiovascular diseases
Authors: Ahn Imjin , Na Wonjun , Kwon Osung , Yang Dong Hyun , Park Gyung-Min , Gwon Hansle , Kang Hee Jun , Jeong Yeon Uk , Yoo Jungsun , Kim Yunha , Jun Tae Joon , Kim Young-Hak
Published: January 2021

Background

Cardiovascular diseases (CVDs) are difficult to diagnose early and have risk factors that are easy to overlook. Early prediction and personalization of treatment through the use of artificial intelligence (AI) may help clinicians and patients manage CVDs more effectively. However, to apply AI approaches to CVDs data, it is necessary to establish and curate a specialized database based on electronic health records (EHRs) and include pre-processed unstructured data.

Methods

To build a suitable database (CardioNet) for CVDs that can utilize AI technology, contributing to the overall care of patients with CVDs. First, we collected the anonymized records of 748,474 patients who had visited the Asan Medical Center (AMC) or Ulsan University Hospital (UUH) because of CVDs. Second, we set clinically plausible criteria to remove errors and duplication. Third, we integrated unstructured data such as readings of medical examinations with structured data sourced from EHRs to create the CardioNet. We subsequently performed natural language processing to structuralize the significant variables associated with CVDs because most results of the principal CVD-related medical examinations are free-text readings. Additionally, to ensure interoperability for convergent multi-center research, we standardized the data using several codes that correspond to the common data model. Finally, we created the descriptive table (i.e., dictionary of the CardioNet) to simplify access and utilization of data for clinicians and engineers and continuously validated the data to ensure reliability.

Results

CardioNet is a comprehensive database that can serve as a training set for AI models and assist in all aspects of clinical management of CVDs. It comprises information extracted from EHRs and results of readings of CVD-related digital tests. It consists of 27 tables, a code-master table, and a descriptive table.

Conclusions

CardioNet database specialized in CVDs was established, with continuing data collection. We are actively supporting multi-center research, which may require further data processing, depending on the subject of the study. CardioNet will serve as the fundamental database for future CVD-related research projects.
Service demand for psychological interventions among Australian adults: a population perspective
Authors: Page Imogen S. , Sparti Claudia , Santomauro Damian , Harris Meredith G.
Published: January 2021

Background

Psychological interventions (PIs) are good practice treatment for both subthreshold and diagnosed mental disorders. Australia has implemented major reforms to expand the provision of subsidised psychological services for individuals with a diagnosed mental disorder. But there are gaps in knowledge about demand for PIs (i.e., use of and perceived need for PIs) across the population. This study uses nationally representative survey data from the 2007 Australian National Survey of Mental Health and Wellbeing to analyse demand for PIs. It also provides a method for analysing survey data to estimate demand for PIs when new survey data becomes available, along with suggestions to inform future survey development.

Methods

Nationally representative community survey respondents (n = 8841, 16–85 years) indicated their perceived need for nine types of help for mental health problems in the past 12 months, including three PIs (cognitive behavioural therapy, psychotherapy, and counselling), and whether these needs were unmet, partially met, or fully met. Types of help were grouped as: PIs only; PIs plus other; and other only. Chi-square analyses were used to examine the association between type of intervention, sociodemographic and clinical factors, and type of professional consulted; multinomial logistic regression models were used to examine predictors of type of intervention(s) received.

Results

7.9% (95%CI: 7.2–8.6) received PIs. Receipt of PIs was positively associated with higher education and consulting a mental health specialist. Twice as many respondents received PIs plus medication as compared to PIs only (4.2% vs. 2.0%). Almost half (45.4, 95%CI 36.5–54.6) incurred out-of-pocket costs for treatment. The most common reason for partially met need for PIs was cost (24.8, 95%CI 17.2–34.3); for unmet need, it was preference for self-management (33.9, 95%CI 21.2–49.5). Perceived unmet need for PIs only (3.1, 95%CI 2.1–4.6) or PIs plus other interventions (5.2, 95%CI 3.9–6.9%) was lower than for other interventions only (22.8, 95%CI 18.7–27.6).

Conclusions

Continued reforms in Australia means that on-going monitoring of demand for PIs, using nationally representative data, is required. This study provides a baseline for comparison of the long-term effects of these reforms; this comparison may be undertaken using data from the third iteration of Australia’s NSMHWB, due for completion in 2021–22.
Metabolic profile distinguishes laminitis-susceptible and -resistant ponies before and after feeding a high sugar diet
Authors: Delarocque Julien , Reiche Dania B. , Meier Alexandra D. , Warnken Tobias , Feige Karsten , Sillence Martin N.
Published: January 2021

Background

Insulin dysregulation (ID) is a key risk factor for equine endocrinopathic laminitis, but in many cases ID can only be assessed accurately using dynamic tests. The identification of other biomarkers could provide an alternative or adjunct diagnostic method, to allow early intervention before laminitis develops. The present study characterised the metabolome of ponies with varying degrees of ID using basal and postprandial plasma samples obtained during a previous study, which examined the predictive power of blood insulin levels for the development of laminitis, in ponies fed a high-sugar diet. Samples from 10 pre-laminitic (PL – subsequently developed laminitis) and 10 non-laminitic (NL – did not develop laminitis) ponies were used in a targeted metabolomic assay. Differential concentration and pathway analysis were performed using linear models and global tests.

Results

Significant changes in the concentration of six glycerophospholipids (adj. P ≤ 0.024) and a global enrichment of the glucose-alanine cycle (adj. P = 0.048) were found to characterise the response of PL ponies to the high-sugar diet. In contrast, the metabolites showed no significant association with the presence or absence of pituitary pars intermedia dysfunction in all ponies.

Conclusions

The present results suggest that ID and laminitis risk are associated with alterations in the glycerophospholipid and glucose metabolism, which may help understand and explain some molecular processes causing or resulting from these conditions. The prognostic value of the identified biomarkers for laminitis remains to be investigated in further metabolomic trials in horses and ponies.
Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature
Authors: Beyzaei Zahra , Ezgu Fatih , Geramizadeh Bita , Alborzi Alireza , Shojazadeh Alireza
Published: January 2021

Background

Mutations in the PRKAG2 gene encoding the 5′ Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically in its γ2 regulatory subunit, lead to Glycogen storage disease of heart, fetal congenital disorder (PRKAG2 syndrome). These mutations are rare, and their functional roles have not been fully elucidated. PRKAG2 syndrome is autosomal dominant disorder inherited with full penetrance. It is characterized by the accumulation of glycogen in the heart tissue, which is clinically manifested as hypertrophic cardiomyopathy. There is little knowledge about the characteristics of this disease. This study reports a genetic defect in an Iranian family with liver problems using targeted-gene sequencing.

Case presentation

A 4-year-old girl presented with short stature, hepatomegaly, and liver cirrhosis. As there was no specific diagnosis made based on the laboratory data and liver biopsy results, targeted-gene sequencing (TGS) was performed to detect the molecular basis of the disease. It was confirmed that this patient carried a novel heterozygous variant in the PRKAG2 gene. The echocardiography was a normal.

Conclusion

A novel heterozygous variant c.592A > T (p.Met198Leu) expands the mutational spectrum of the PRKAG2 gene in this family. Also, liver damage in patients with PRKAG2 syndrome has never been reported, which deserves further discussion.
Co-expression of CMTM6 and PD-L1: a novel prognostic indicator of gastric cancer
Authors: Zhang Chao , Zhao Shutao , Wang Xudong
Published: January 2021

Background

CKLF Like MARVEL Transmembrane Domain Containing 6 (CMTM6) is involved in the epigenetic regulation of genes and tumorigenesis. Programmed cell death ligand 1 (PD-L1) is closely related to the prognosis of some human cancers. CMTM6 is a key regulator of PD-L1 in many cancers. The purpose of this study was to investigate the expressions of these proteins in gastric cancer and the correlations with clinicopathological features and survival.

Methods

The expression levels of CMTM6 and PD-L1 were examined in 185 gastric cancer specimens using immunohistochemistry, quantitative real-time PCR and Western blot. Immunofluorescence was used to examine the localizations of CMTM6 and PD-L1. Chi-square test was used to analyze the relationship between CMTM6 and PD-L1 expressions and clinicopathological characteristics. Kaplan–Meier method and log-rank test were used to analyze the survival data of patients.

Results

The positive expression rates of CMTM6 and PD-L1 in gastric cancers were 78.38% (145/185) and 75.68% (140/185), respectively. CMTM6 and PD-L1 were both mainly expressed in the cell membrane and nucleus of gastric cancer tumor cells. High expression of CMTM6 and PD-L1 was correlated with Borrmann type (P < 0.001), N stage (P = 0.002), peritoneal metastasis (P = 0.007) and TNM stage (P = 0.038). CMTM6 and PD-L1 expression in gastric cancer tissues showed a positive correlation (Pearson’s coefficient test, r = 0.260; P < 0.001). CMTM6 may positively regulate PD-L1 expression. High expression of CMTM6 was correlated with poor prognosis of gastric cancer patients (HR = 1.668; 95% CI = 1.032–2.695; P = 0.037). High expression of both CMTM6 and PD-L1 may be an independent factor for overall survival (HR = 1.554; 95% CI = 1.011–2.389; P = 0.044).

Conclusion

The combined detection of CMTM6 and PD-L1 may be used as an indicator for judging the prognosis of gastric cancer patients.
Tumor mutation burden in connection with immune-related survival in uterine corpus endometrial carcinoma
Authors: Zhao Ling , Fu Xueshu , Han Xiling , Yu Yanjun , Ye Yaping , Gao Jun
Published: January 2021

Background

UCEC is the most common gynecological malignancy in many countries, and its mechanism of occurrence and development is related to tumor mutation burden (TMB) and immune cell infiltration. Therefore, it is necessary to systematically explore the TMB-related gene profile in immune cells to improve the prognosis of UCEC.

Methods

We integrated TMB-related genes with basic clinical information of UCEC patients based on TCGA dataset. Differentially expressed genes (DEGs) were selected through differential expression screening, PPI, and enrichment analysis. Additionally, we analyzed the components of immune cell infiltration of the DEGs to obtain the differential immunity-related genes. A single factor and multifactor Cox regression analyses were conducted to establish new prognostic indicators of OS and DFS based on TMB-related immune genes. To further study the correlation between survival and immune cell infiltration, a Cox model based on these immune infiltration compositions was built. Using the clinical variables, we established nomograms for OS and DFS.

Results

393 DEGs were significantly associated with clinical outcomes and the immune component in patients with UCEC. Gene Ontology (GO) and Kyoto Encyclopedia of Genes, Genomes (KEGG) pathway and protein-protein interaction network (PPI) analyses revealed the role of these genes and information on related pathways. Then, two prognostic models were established based on the differential immune genes for OS (GFAP and MX2) and DFS (MX2, GFAP, IGHM, FGF20, and TRAV21). In DFS, the differential immune genes were related to CD4+ T cell, CD8+ T cell, macrophage, and neutrophil (all P < 0.05). B cell and CD8+ T cell were independent prognostic factors from among the immune cell elements in UCEC. Finally, the risk scores of these models were combined with the clinical elements-based nomogram models, and the AUC values were all over 0.7.

Conclusions

Our results identified several clinically significant differential immune genes and established relevant prognostic models, providing a basis for the molecular analysis of TMB and immune cells in UCEC, and identified potential prognostic and immune-related genes for UCEC. We added clinical related conditions for further analysis to confirm the identity of the genes and clinical elements-based models.
Attention-based multi-scale features fusion for unobtrusive atrial fibrillation detection using ballistocardiogram signal
Authors: Jiang Fangfang , Hong Chuhang , Cheng Tianqing , Wang Haoqian , Xu Bowen , Zhang Biyong
Published: January 2021

Background

Atrial fibrillation (AF) represents the most common arrhythmia worldwide, related to increased risk of ischemic stroke or systemic embolism. It is critical to screen and diagnose AF for the benefits of better cardiovascular health in lifetime. The ECG-based AF detection, the gold standard in clinical care, has been restricted by the need to attach electrodes on the body surface. Recently, ballistocardiogram (BCG) has been investigated for AF diagnosis, which is an unobstructive and convenient technique to monitor heart activity in daily life. However, here is a lack of high-dimension representation and deep learning analysis of BCG.

Method

Therefore, this paper proposes an attention-based multi-scale features fusion method by using BCG signal. The 1-D morphology feature extracted from Bi-LSTM network and 2-D rhythm feature extracted from reconstructed phase space are integrated by means of CNN network to improve the robustness of AF detection. To the best of our knowledge, this is the first study where the phase space trajectory of BCG is conducted.

Results

2000 segments (AF and NAF) of BCG signals were collected from 59 volunteers suffering from paroxysmal AF in this survey. Compared to the classical time and frequency features and the state-of-the-art energy features with the popular machine learning classifiers, AF detection performance of the proposed method is superior, which has 0.947 accuracy, 0.935 specificity, 0.959 sensitivity, and 0.937 precision, for the same BCG dataset. The experimental results show that combined feature could excavate more potential characteristics, and the attention mechanism could enhance the pertinence for AF recognition.

Conclusions

The proposed method can provide an innovative solution to capture the diverse scale descriptions of BCG and explore ways to involve the deep learning method to accurately screen AF in routine life.
High prevalence of anti-SARS-CoV-2 IgG antibody in the Xikrin of Bacajá (Kayapó) indigenous population in the brazilian Amazon
Authors: Rodrigues Eliene Putira Sacuema , Abreu Isabella Nogueira , Lima Carlos Neandro Cordeiro , da Fonseca Dennyson Leandro Mathias , Pereira Sávio Felipe Gomes , dos Reis Laena Costa , Vallinoto Izaura Maria Vieira Cayres , Guerreiro João Farias , Vallinoto Antonio Carlos Rosário
Published: January 2021

The COVID-19 pandemic caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) reached the Brazilian Amazon and spread among indigenous populations. In the present study, we demonstrate a high prevalence of infection among the Xikrin of Bacajá people (Kayapó). A sample of 100 individuals of both sexes (51 men and 49 women) with ages ranging from 2 to 82 years were clinically evaluated and tested for the presence of anti-SARS-CoV-2 IgG antibody. Among all investigated individuals, 58 were IgG-reactive (58 %) by a rapid test, and 73 (73 %) were reactive in an enzyme-linked immunosorbent assay, with no difference between sexes. Oxygen saturation ranged from 82 to 99 %, with the lowest value observed in a two-year-old girl. The results show that as expected, SARS-CoV-2 infection rapidly reached more than 70 % of the population, most likely because of the difficulties of maintaining social distance due to cultural characteristics. These results highlight the importance of indigenous health policies as a means of minimizing the impact of the pandemic on these communities.
Reliability of streetscape audits comparing on‐street and online observations: MAPS-Global in 5 countries
Authors: Queralt Ana , Molina-García Javier , Terrón-Pérez Marta , Cerin Ester , Barnett Anthony , Timperio Anna , Veitch Jenny , Reis Rodrigo , Silva Alexandre Augusto Paula , Ghekiere Ariane , Van Dyck Delfien , Conway Terry L. , Cain Kelli L. , Geremia Carrie M. , Sallis James F.
Published: January 2021

Background

Microscale environmental features are usually evaluated using direct on-street observations. This study assessed inter-rater reliability of the Microscale Audit of Pedestrian Streetscapes, Global version (MAPS-Global), in an international context, comparing on-street with more efficient online observation methods in five countries with varying levels of walkability.

Methods

Data were collected along likely walking routes of study participants, from residential starting points toward commercial clusters in Melbourne (Australia), Ghent (Belgium), Curitiba (Brazil), Hong Kong (China), and Valencia (Spain). In-person on the street and online using Google Street View audits were carried out by two independent trained raters in each city. The final sample included 349 routes, 1228 street segments, 799 crossings, and 16 cul-de-sacs. Inter-rater reliability analyses were performed using Kappa statistics or Intraclass Correlation Coefficients (ICC).

Results

Overall mean assessment times were the same for on-street and online evaluations (22 ± 12 min). Only a few subscales had Kappa or ICC values < 0.70, with aesthetic and social environment variables having the lowest overall reliability values, though still in the “good to excellent” category. Overall scores for each section (route, segment, crossing) showed good to excellent reliability (ICCs: 0.813, 0.929 and 0.885, respectively), and the MAPS-Global grand score had excellent reliability (ICC: 0.861) between the two methods.

Conclusions

MAPS-Global is a feasible and reliable instrument that can be used both on-street and online to analyze microscale environmental characteristics in diverse international urban settings.
Feasibility of anticoagulation using low molecular-weight heparin during catheter-directed thrombolysis for lower extremity deep venous thrombosis
Authors: Li Yonghui , Wang Junwei , He Rongzhou , Zheng Junmeng , Chen Zhibo , Yao Chen , Huang Kai
Published: January 2021

Background

The optimal anticoagulant scheme during catheter-directed thrombolysis (CDT) for deep venous thrombosis (DVT) remains unknown. This study was performed to evaluate the feasibility of anticoagulation therapy using low molecular-weight heparin (LMWH) during CDT for DVT.

Methods

The clinical data of DVT patients who underwent CDT during the past six years was retrospectively collected and reviewed. Patients were divided into therapeutic-dose anticoagulation (TPDA) and sub therapeutic-dose anticoagulation (sub-TPDA) groups according to LMWH dosage.

Results

A total of 61 patients involving 61 limbs were comprised. Acute and subacute DVT were identified in 39 (63.9%) and 22 (36.1%) patients, respectively. Thrombosis involving the iliac vein was identified in 34 (55.7%) patients. Inferior vena cava filter placement was performed in 38 (62.3%) patients. Intraoperatively, adjunctive balloons, stents, and thrombectomy were provided for nine (14.8%), four (6.6%), and one (1.6%) patients, respectively. Twenty (32.8%) patients accepted TPDA therapy, while 41 (67.2%) patients were administrated with sub-TPDA therapy. Median urokinase infusion rate was 2.5 (0.83 to 5) × 104 U/h. Median infusion duration time was 4 (2 to 14) days, and median urokinase dose infused was 2.4 (0.6 to 10.80) × 106 U. During CDT, five (8.2%) cases of minor bleeding were observed, and blood transfusion was not required. No major bleeding, symptomatic pulmonary embolisms, or death occurred. Complete (> 90%) and partial thrombolysis (50 ~ 90%) were achieved in 56 (91.8%) patients. In comparison with sub-TPDA group, TPDA group exhibited no significant differences in baseline characteristics, clinical improvement, thrombolysis results, and complications.

Conclusions

Anticoagulation therapy using low molecular-weight heparin during CDT with low infusion rate for DVT is likely to be feasible and safe. Sub-therapeutic-dose anticoagulation and therapeutic-dose could be used for CDT with similar clinical outcome and bleeding complications.
Analysis of the therapeutic effect and prognosis in 86 cases of rib fractures and atelectasis
Authors: Yin Degang , Lu Jingang , Wang Jiansheng , Yan Biao , Zheng Zhongshu
Published: January 2021

Background

The aim of the present study was to explore the therapeutic effect and prognosis in patients with rib fractures and atelectasis after thoracic trauma in order to provide a basis for clinical decision-making in primary hospitals.

Methods

A retrospective study was conducted on 86 patients admitted to our hospital between January 2016 and May 2020 with rib fractures and atelectasis after thoracic trauma. On the basis of the chest computed tomography scans taken at the time of discharge, the patients were divided into two groups: the reexpansion group and the non-reexpansion group. The two groups were compared with respect to the changes observed in the patients’ levels of blood oxygen saturation (SpO2) and pulmonary function, the presence of secondary pulmonary or thoracic infection, the time of chest tube drainage, the length of hospitalization, the cost of hospitalization, and the patients’ level of satisfaction with their quality of life 3 months after discharge.

Results

In the reexpansion group, there were significant differences in the levels of SpO2 and pulmonary function measured before and after pulmonary reexpansion (P < 0.05). Compared with the non-reexpansion group, the patients in the reexpansion group had a lower incidence of secondary pulmonary and thoracic infection and a higher level of satisfaction with their quality of life after discharge; these differences were statistically significant (P < 0.05). There was no statistical significance between the two groups with respect to the time of chest tube drainage or the length of hospitalization (P > 0.05). However, the cost of hospitalization was significantly higher in the reexpansion group than in the non-reexpansion group (P < 0.05).

Conclusions

The patients in the pulmonary reexpansion group had a lower incidence of complications and a better prognosis than the patients in the non-reexpansion group.
A useful intraoperative technique for transiliac-transsacral screws: a point-to-point coaxial guide apparatus
Authors: Zheng Ze-hang , Xu Fei , Luo Zheng-qiang , Ren Ye , Fu Tao , Xu Han-qing , Liu Bin-bin
Published: January 2021

Background

The transiliac-transsacral screw placement is a clinical challenge for surgeons. This study explored a point-to-point coaxial guide apparatus assisting the transiliac-transsacral screw insertion and aimed to investigate the feasibility and accuracy of the guide apparatus in the treatment of posterior ring unstable pelvic fracture compared with a free-hand technique.

Methods

A retrospective study was performed to evaluate patients treated with transiliac-transsacral screws assisted by the point-to-point coaxial guide apparatus or free-hand technique. The intraoperative data of operative time and radiation exposure times were recorded. Postoperative radiographs and CT scans were performed to scrutinize the accuracy of screws position. The quality of the postoperative fracture reduction was assessed according to Matta radiology criteria. The pelvic function was assessed according to the Majeed scoring criteria at 6 months postoperatively.

Results

From July 2017 to December 2019, a total of 38 patients were included in this study, 20 from the point-to-point guide apparatus group and 18 from the free-hand group. There were no significant differences between the two groups in gender, age, injury causes, pelvic fracture type, screws level, and follow-up time (P > 0.05). The average operative time of the guide apparatus group for each screw was significantly less than that in the free-hand group (25.8 ± 4.7 min vs 40.5 ± 5.1, P < 0.001). The radiation exposure times were significantly lower in the guide apparatus group than that in the free-hand group (24.4 ± 6.0 vs 51.6 ± 8.4, P < 0.001). The intraosseous and juxtacortical rate of screw placement (100%) higher than in the free-hand group (94.4%).

Conclusion

The point-to-point coaxial guide apparatus is feasible for assisting the transiliac-transsacral screw in the treatment of posterior unstable pelvic fractures. It has the advantages of simple operation, reasonable design and no need for expensive equipment, and provides an additional surgical strategy for the insertion of the transiliac-transsacral screw.
Incidence and risk factors for deep venous thrombosis of lower extremity after surgical treatment of isolated patella fractures
Authors: Tan Zhanchao , Hu Hongzhi , Deng Xiangtian , Zhu Jian , Zhu Yanbin , Ye Dandan , Cheng Xiaodong , Zhang Yingze
Published: January 2021

Background

Limited information exists on the incidence of postoperative deep venous thromboembolism (DVT) in patients with isolated patella fractures. The objective of this study was to investigate the postoperative incidence and locations of deep venous thrombosis (DVT) of the lower extremity in patients who underwent isolated patella fractures and identify the associated risk factors.

Methods

Medical data of 716 hospitalized patients was collected. The patients had acute isolated patella fractures and were admitted at the 3rd Hospital of Hebei Medical University between January 1, 2016, and February 31, 2019. All patients met the inclusion criteria. Medical data was collected using the inpatient record system, which included the patient demographics, patient’s bad hobbies, comorbidities, past medical history, fracture and surgery-related factors, hematological biomarkers, total hospital stay, and preoperative stay. Doppler examination was conducted for the diagnosis of DVT. Univariate analyses and multivariate logistic regression analyses were used to identify the independent risk factors.

Results

Among the 716 patients, DVT was confirmed in 29 cases, indicating an incidence of 4.1%. DVT involved bilateral limbs (injured and uninjured) in one patient (3.4%). DVT involved superficial femoral common vein in 1 case (3.4%), popliteal vein in 6 cases (20.7%), posterior tibial vein in 11 cases (37.9%), and peroneal vein in 11 cases (37.9%). The median of the interval between surgery and diagnosis of DVT was 4.0 days (range, 1.0-8.0 days). Six variables were identified to be independent risk factors for DVT which included age category (> 65 years old), OR, 4.44 (1.34-14.71); arrhythmia, OR, 4.41 (1.20-16.15); intra-operative blood loss, OR, 1.01 (1.00-1.02); preoperative stay (delay of each day), OR, 1.43 (1.15-1.78); surgical duration, OR, 1.04 (1.03-1.06); LDL-C (> 3.37 mmol/L), OR, 2.98 (1.14-7.76).

Conclusion

Incidence of postoperative DVT in patients with isolated patella fractures is substantial. More attentions should be paid on postoperative DVT prophylaxis in patients with isolated patella fractures. Identification of associated risk factors can help clinicians recognize the risk population, assess the risk of DVT, and develop personalized prophylaxis strategies.
[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis
Authors: Gallais Sérézal I. , Ferkal S. , Lerman L. , Mulé S. , Funalot B. , Wolkenstein P.
Published: January 2021

Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwannomas and whole-body [18F]FDG-PET/MRI might help detect extra schwannomas in patients when the diagnosis is uncertain. Among the 25 patients treated for Schwannomatosis in our tertiary center, three men and two women had had a [18F]FDG-PET/MRI performed, and the number of schwannomas detected by [18F]FDG-PET/MRI outnumbered the number of schwannomas suspected during the clinical examination. The majority of schwannomas exhibited a radiolabeling (median of 66.7%, range 28–93%). Our findings show that [18F]FDG-PET/MRI could prove useful when suspecting schwannomatosis to accelerate diagnosis and offer optimal care to patients.
ADAR1 is a new target of METTL3 and plays a pro-oncogenic role in glioblastoma by an editing-independent mechanism
Authors: Tassinari Valentina , Cesarini Valeriana , Tomaselli Sara , Ianniello Zaira , Silvestris Domenico Alessandro , Ginistrelli Lavinia Ceci , Martini Maurizio , De Angelis Biagio , De Luca Gabriele , Vitiani Lucia Ricci , Fatica Alessandro , Locatelli Franco , Gallo Angela
Published: January 2021

Background

N6-methyladenosine (m6A) and adenosine-to-inosine (A-to-I) RNA editing are two of the most abundant RNA modification events affecting adenosines in mammals. Both these RNA modifications determine mRNA fate and play a pivotal role in tumor development and progression.

Results

Here, we show that METTL3, upregulated in glioblastoma, methylates ADAR1 mRNA and increases its protein level leading to a pro-tumorigenic mechanism connecting METTL3, YTHDF1, and ADAR1. We show that ADAR1 plays a cancer-promoting role independently of its deaminase activity by binding CDK2 mRNA, underlining the importance of ADARs as essential RNA-binding proteins for cell homeostasis as well as cancer progression. Additionally, we show that ADAR1 knockdown is sufficient to strongly inhibit glioblastoma growth in vivo.

Conclusions

Hence, our findings underscore METTL3/ADAR1 axis as a novel crucial pathway in cancer progression that connects m6A and A-to-I editing post-transcriptional events.
Blood meal source and mixed blood-feeding influence gut bacterial community composition in Aedes aegypti
Authors: Muturi Ephantus J. , Njoroge Teresia M. , Dunlap Christopher , Cáceres Carla E.
Published: January 2021

Background

The guts of blood-sucking insects host a community of bacteria that can shift dramatically in response to biotic and abiotic factors. Identifying the key factors structuring these microbial communities has important ecological and epidemiological implications.

Methods

We used the yellow fever mosquito, Aedes aegypti, to investigate the impact of mixed blood meals on gut microbiota of vector mosquitoes. Adult females were experimentally fed on sugar or blood from chicken, rabbit or a mixture of chicken and rabbit blood, and their gut microbiota were characterized using 16S rRNA gene amplification and MiSeq sequencing.

Results

The gut bacterial communities of mosquitoes fed on the three blood meal treatments clustered separately, suggesting that host species identity and mixed blood-feeding are key determinants of gut bacterial community composition in mosquitoes. Mixed blood meal had a synergistic effect on both operational taxonomic unit (OTU) richness and the Shannon diversity index, suggesting that mixed blood-feeding can offset the nutritional deficit of blood meals from certain host species. The microbial communities observed in this study were distinct from those identified from similarly fed Ae. aegypti from our previous study.

Conclusions

These findings demonstrate that vector host-feeding preferences can influence gut microbial composition and diversity, which could potentially impact pathogen acquisition and transmission by the vector. The results also demonstrate that different microenvironmental conditions within the laboratory may play an important role in structuring the microbial communities of independently reared mosquito colonies.

Graphical Abstract
Bionomics and ecology of Anopheles merus along the East and Southern Africa coast
Authors: Bartilol Brian , Omedo Irene , Mbogo Charles , Mwangangi Joseph , Rono Martin K.
Published: January 2021

Malaria transmission persists despite the scale-up of interventions such as long-lasting insecticide-treated nets (LLINs) and indoor residual spraying (IRS). Understanding the entomological drivers of transmission is key for the design of effective and sustainable tools to address the challenge. Recent research findings indicate a shift in vector populations from the notorious Anopheles gambiae (s.s.) as a dominant vector to other species as one of the factors contributing to the persistence of malaria transmission. However, there are gaps in the literature regarding the minor vector species which are increasingly taking a lead role in malaria transmission. Currently, minor malaria vectors have behavioural plasticity, which allows their evasion of vector control tools currently in use. To address this, we have reviewed the role of Anopheles merus, a saltwater mosquito species that is becoming an important vector of malaria transmission along the East and Southern African coast. We performed a literature review from PubMed and Google Scholar and reviewed over 50 publications relating to An. merus's bionomics, taxonomy, spatial-temporal distribution and role in malaria transmission. We found that An. merus is an important vector of malaria and that it contributes to residual malaria transmission because of its exophilic tendencies, insecticide resistance and densities that peak during the dry seasons as the freshwater mosquitoes decline. Spatial and temporal studies have also shown that this species has increased its geographical range, densities and vectorial capacity over time. In this review, we highlight the resting behaviour and breeding habitats of this mosquito, which could be targeted for surveillance studies and control interventions.

Graphical Abstract
Aspects of the development of Ixodes anatis under different environmental conditions in the laboratory and in the field
Authors: Bansal Natasha , Pomroy William E. , Heath Allen C. G. , Castro Isabel
Published: January 2021

Background

Numerous laboratory and fewer field-based studies have found that ixodid ticks develop more quickly and survive better at temperatures between 18 °C and 26 °C and relative humidity (RH) between 75 and 94%.Ixodes anatisChilton, 1904, is an endophilic, nidicolous species endemic to North Island brown kiwi (Apteryx mantelli) (NIBK) and the tokoeka (Apteryx australis), and little is known about the environmental conditions required for its development. The aims of this study were to determine and compare the conditions of temperature and RH that ensure the best survival of the kiwi tick and the shortest interstadial periods, in laboratory conditions and outdoors inside artificial kiwi burrows.

Methods

Free-walking engorged ticks were collected off wild kiwi hosts and placed in the laboratory under various fixed temperature and humidity regimes. In addition, sets of the collected ticks at different developmental stages were placed in artificial kiwi burrows. In both settings, we recorded the times taken for the ticks to moult to the next stage.

Results

Larvae and nymphs both showed optimum development at between 10 °C and 20 °C, which is lower than the optimum temperature for development in many other species of ixodid ticks. However, larvae moulted quicker and survived better when saturation deficits were < 1–2 mmHg (RH > 94%); in comparison, the optimum saturation deficits for nymph development were 1–10 mmHg.

Conclusions

Our results suggest that the kiwi tick has adapted to the stable, but relatively cool and humid conditions in kiwi burrows, reflecting the evolutionary consequences of its association with the kiwi.

Graphical Abstract
MethCORR infers gene expression from DNA methylation and allows molecular analysis of ten common cancer types using fresh-frozen and formalin-fixed paraffin-embedded tumor samples
Authors: Mattesen Trine B. , Andersen Claus L. , Bramsen Jesper B.
Published: January 2021

Background

Transcriptional analysis is widely used to study the molecular biology of cancer and hold great biomarker potential for clinical patient stratification. Yet, accurate transcriptional profiling requires RNA of a high quality, which often cannot be retrieved from formalin-fixed, paraffin-embedded (FFPE) tumor tissue that is routinely collected and archived in clinical departments. To overcome this roadblock to clinical testing, we previously developed MethCORR, a method that infers gene expression from DNA methylation data, which is robustly retrieved from FFPE tissue. MethCORR was originally developed for colorectal cancer and with this study, we aim to: (1) extend the MethCORR method to 10 additional cancer types and (2) to illustrate that the inferred gene expression is accurate and clinically informative.

Results

Regression models to infer gene expression information from DNA methylation were developed for ten common cancer types using matched RNA sequencing and DNA methylation profiles (HumanMethylation450 BeadChip) from The Cancer Genome Atlas Project. Robust and accurate gene expression profiles were inferred for all cancer types: on average, the expression of 11,000 genes was modeled with good accuracy and an intra-sample correlation ofR2 = 0.90 between inferred and measured gene expression was observed. Molecular pathway analysis and transcriptional subtyping were performed for breast, prostate, and lung cancer samples to illustrate the general usability of the inferred gene expression profiles: overall, a high correlation ofr = 0.96 (Pearson) in pathway enrichment scores and a 76% correspondence in molecular subtype calls were observed when using measured and inferred gene expression as input. Finally, inferred expression from FFPE tissue correlated better with RNA sequencing data from matched fresh-frozen tissue than did RNA sequencing data from FFPE tissue (P < 0.0001; Wilcoxon rank-sum test).

Conclusions

In all cancers investigated, MethCORR enabled DNA methylation-based transcriptional analysis, thus enabling future analysis of cancer in situations where high-quality DNA, but not RNA, is available. Here, we provide the framework and resources for MethCORR modeling of ten common cancer types, thereby widely expanding the possibilities for transcriptional studies of archival FFPE material.
Evidence for implementation of interventions to promote mental health in the workplace: a systematic scoping review protocol
Authors: Paterson Charlotte , Leduc Caleb , Maxwell Margaret , Aust Birgit , Amann Benedikt L. , Cerga-Pashoja Arlinda , Coppens Evelien , Couwenbergh Chrisje , O’Connor Cliodhna , Arensman Ella , Greiner Birgit A.
Published: January 2021

Background

Mental health problems are common in the working population and represent a growing concern internationally, with potential impacts on workers, organisations, workplace health and compensation authorities, labour markets and social policies. Workplace interventions that create workplaces supportive of mental health, promote mental health awareness, destigmatise mental illness and support those with mental disorders are likely to improve health and economical outcomes for employees and organisations. Identifying factors associated with successful implementation of these interventions can improve intervention quality and evaluation, and facilitate the uptake and expansion. Therefore, we aim to review research reporting on the implementation of mental health promotion interventions delivered in workplace settings, in order to increase understanding of factors influencing successful delivery.

Methods and analysis

A scoping review will be conducted incorporating a stepwise methodology to identify relevant literature reviews, primary research and grey literature. This review is registered with Research Registry (reviewregistry897). One reviewer will conduct the search to identify English language studies in the following electronic databases from 2008 through to July 1, 2020: Scopus, PROSPERO, Health Technology Assessments, PubMed, Campbell Collaboration, Joanna Briggs Library, PsycINFO, Web of Science Core Collection, CINAHL and Institute of Occupational Safety and Health (IOSH). Reference searching, Google Scholar, Grey Matters, IOSH and expert contacts will be used to identify grey literature. Two reviewers will screen title and abstracts, aiming for 95% agreement, and then independently screen full texts for inclusion. Two reviewers will assess methodological quality of included studies using the Mixed Methods Appraisal Tool and extract and synthesize data in line with the RE-AIM framework, Nielson and Randall’s model of organisational-level interventions and Moore’s sustainability criteria, if the data allows. We will recruit and consult with international experts in the field to ensure engagement, reach and relevance of the main findings.

Discussion

This will be the first systematic scoping review to identify and synthesise evidence of barriers and facilitators to implementing mental health promotion interventions in workplace settings. Our results will inform future evaluation studies and randomised controlled trials and highlight gaps in the evidence base.

Systematic review registration

Research Registry (reviewregistry897)
Non-classical symmetry and analytic self-similar solutions for a non-homogenous time-fractional vector NLS system
Authors: Ren Ruichao , Zhang Shunli
Published: January 2021

The complex PDEs are a very important and interesting task in nonlinear quantum science. Although there have been extensive studies on the classical complex models, solving the fractional complex models still has a lot of shortcomings, especially for the non-homogenous ones. Therefore, the present study focuses on solving the two-component non-homogenous time-fractional NLS system, our method is to solve a prolonged fractional system derived from the governed model. We first establish non-classical symmetries of this new enlarged system by using the fractional Lie group method. Then, with the help of fractional Erdélyi–Kober operator, we reduce this new system into fractional ODEs, the self-similar solutions are obtained via the power series expansion. The convergence of these solutions are proven as all the variable coefficients are analytic. Finally, we generalize our methods to handle the multi-component case. We conclude that this way may also bring some convenience for solving other complex systems.
High heterogeneity undermines generalization of differential expression results in RNA-Seq analysis
Authors: Cui Weitong , Xue Huaru , Wei Lei , Jin Jinghua , Tian Xuewen , Wang Qinglu
Published: January 2021

Background

RNA sequencing (RNA-Seq) has been widely applied in oncology for monitoring transcriptome changes. However, the emerging problem that high variation of gene expression levels caused by tumor heterogeneity may affect the reproducibility of differential expression (DE) results has rarely been studied. Here, we investigated the reproducibility of DE results for any given number of biological replicates between 3 and 24 and explored why a great many differentially expressed genes (DEGs) were not reproducible.

Results

Our findings demonstrate that poor reproducibility of DE results exists not only for small sample sizes, but also for relatively large sample sizes. Quite a few of the DEGs detected are specific to the samples in use, rather than genuinely differentially expressed under different conditions. Poor reproducibility of DE results is mainly caused by high variation of gene expression levels for the same gene in different samples. Even though biological variation may account for much of the high variation of gene expression levels, the effect of outlier count data also needs to be treated seriously, as outlier data severely interfere with DE analysis.

Conclusions

High heterogeneity exists not only in tumor tissue samples of each cancer type studied, but also in normal samples. High heterogeneity leads to poor reproducibility of DEGs, undermining generalization of differential expression results. Therefore, it is necessary to use large sample sizes (at least 10 if possible) in RNA-Seq experimental designs to reduce the impact of biological variability and DE results should be interpreted cautiously unless soundly validated.
PeakMatcher facilitates updated Aedes aegypti embryonic cis-regulatory element map
Authors: Nowling Ronald J. , Behura Susanta K. , Halfon Marc S. , Emrich Scott J. , Duman-Scheel Molly
Published: January 2021

Background

The Aedes aegypti mosquito is a threat to human health across the globe. The A. aegypti genome was recently re-sequenced and re-assembled. Due to a combination of long-read PacBio and Hi-C sequencing, the AaegL5 assembly is chromosome complete and significantly improves the assembly in key areas such as the M/m sex-determining locus. Release of the updated genome assembly has precipitated the need to reprocess historical functional genomic data sets, including cis-regulatory element (CRE) maps that had previously been generated for A. aegypti.

Results

We re-processed and re-analyzed the A. aegypti whole embryo FAIRE seq data to create an updated embryonic CRE map for the AaegL5 genome. We validated that the new CRE map recapitulates key features of the original AaegL3 CRE map. Further, we built on the improved assembly in the M/m locus to analyze overlaps of open chromatin regions with genes. To support the validation, we created a new method (PeakMatcher) for matching peaks from the same experimental data set across genome assemblies.

Conclusion

Use of PeakMatcher software, which is available publicly under an open-source license, facilitated the release of an updated and validated CRE map, which is available through the NIH GEO. These findings demonstrate that PeakMatcher software will be a useful resource for validation and transferring of previous annotations to updated genome assemblies.