bluuebunny/crossref_metadata_2025 huggingface dataset:
A comparative analysis of non-invasive prenatal testing in Ontario and Quebec: the role of governing style in health technology innovation & adoption
Authors: Saleh Lena , Parker Gillian , Stevenson Michael , Miller Fiona A.
Published: March 2023

Background

While processes of adoption and the impacts of various health technologies have been extensively studied by health services and policy researchers, the influence of policy makers’ governing styles on these processes have been largely neglected. Through a comparative analysis of non-invasive prenatal testing (NIPT) in the Canadian provinces of Ontario and Quebec, this article examines how decisions about this technology were shaped by contrasting political ideologies, resulting in vastly different innovation and adoption strategies and outcomes.

Methods

A comparative qualitative investigation comprising of a document analysis followed by semi-structured interviews with key informants. Interview participants were researchers, clinicians, and private sector medical laboratory employees based in Ontario and Quebec, Canada. Interviews were conducted both in person and virtually– owing partly to the COVID-19 pandemic – to garner perspectives regarding the adoption and innovation processes surrounding non-invasive prenatal testing in both provinces. All interviews were recorded and transcribed verbatim and data were analyzed using thematic analysis.

Results

Through an analysis of 21 in-depth interview transcripts and key documents, the research team identified three central themes: 1) health officials in each province demonstrated a unique approach to using the existing scholarly literature on NIPT; 2) each provincial government demonstrated its own preference for service delivery, with Ontario preferring private and Quebec preferring public; and finally, 3) both Ontario and Quebec’s strategies to NIPT adoption and innovation was contextualized within each province’s unique financial positioning and concerns. These findings illustrate how both Quebec’s nationalist focus and use of industrial policy and Ontario’s ‘New Public Management’ style had implications for how this emerging healthcare technology was made available within each province’s publicly-financed health system.

Conclusions

Our study reveals how these governments’ differing approaches to using data and research, public versus private service delivery, and financial goals and concerns resulted in distinct testing technologies, access, and timelines for NIPT adoption. Our analysis demonstrates the need for health policy researchers, policy makers, and others to move beyond analyses solely considering clinical and health economic evidence to understand the impact of political ideologies and governing styles.
Alpha-2-macroglobulin is involved in the occurrence of early-onset pre-eclampsia via its negative impact on uterine spiral artery remodeling and placental angiogenesis
Authors: Wang Jingyun , Zhang Ping , Liu Mengyuan , Huang Zhengrui , Yang Xiaofeng , Ding Yuzhen , Liu Jia , Cheng Xin , Xu Shujie , He Meiyao , Zhang Fengxiang , Wang Guang , Li Ruiman , Yang Xuesong
Published: March 2023

Background

Pre-eclampsia (PE) is one of the leading causes of maternal and fetal morbidity/mortality during pregnancy, and alpha-2-macroglobulin (A2M) is associated with inflammatory signaling; however, the pathophysiological mechanism by which A2M is involved in PE development is not yet understood.

Methods

Human placenta samples, serum, and corresponding clinical data of the participants were collected to study the pathophysiologic mechanism underlying PE. Pregnant Sprague–Dawley rats were intravenously injected with an adenovirus vector carrying A2M via the tail vein on gestational day (GD) 8.5. Human umbilical artery smooth muscle cells (HUASMCs), human umbilical vein endothelial cells (HUVECs), and HTR-8/SVneo cells were transfected with A2M-expressing adenovirus vectors.

Results

In this study, we demonstrated that A2M levels were significantly increased in PE patient serum, uterine spiral arteries, and feto-placental vasculature. The A2M-overexpression rat model closely mimicked the characteristics of PE (i.e., hypertension in mid-to-late gestation, histological and ultrastructural signs of renal damage, proteinuria, and fetal growth restriction). Compared to the normal group, A2M overexpression significantly enhanced uterine artery vascular resistance and impaired uterine spiral artery remodeling in both pregnant women with early-onset PE and in pregnant rats. We found that A2M overexpression was positively associated with HUASMC proliferation and negatively correlated with cell apoptosis. In addition, the results demonstrated that transforming growth factor beta 1 (TGFβ1) signaling regulated the effects of A2M on vascular muscle cell proliferation described above. Meanwhile, A2M overexpression regressed rat placental vascularization and reduced the expression of angiogenesis-related genes. In addition, A2M overexpression reduced HUVEC migration, filopodia number/length, and tube formation. Furthermore, HIF-1α expression was positively related to A2M, and the secretion of sFLT-1 and PIGF of placental origin was closely related to PE during pregnancy or A2M overexpression in rats.

Conclusions

Our data showed that gestational A2M overexpression can be considered a contributing factor leading to PE, causing detective uterine spiral artery remodeling and aberrant placental vascularization.
Severe malaria in Gabon: epidemiological, clinical and laboratory features in Amissa Bongo Hospital of Franceville
Authors: Imboumy-Limoukou Roméo Karl , Lendongo-Wombo Judicael Boris , Nguimbyangue-Apangome Andhra Fecilia , Biteghe Bi Essone Jean-Claude , Mounioko Franck , Oyegue-Libagui Lydie Sandrine , Ngoungou Brice Edgar , Lekana-Douki Jean-Bernard
Published: March 2023

Background

Malaria is the most deadly parasitic disease and continues to claim more than a half million of deaths across the world each year, mainly those of under-fives children in sub-Saharan Africa. The aim of this study was to determine the epidemiological, clinical and laboratory features of patients with severe malaria at the Centre Hospitalier Régional Amissa Bongo (CHRAB), a referral hospital in Franceville.

Methods

It was an observational descriptive study conducted at CHRAB over 10 months. All admitted patients at the emergency ward of all ages presenting with positive test to falciparum malaria diagnosed by microscopy and rapid test with clinical signs of severe illness describe by World Health Organization were enrolled.

Results

During this study, 1065 patients were tested positive for malaria, of them 220 had severe malaria. Three quarters (75.0%) were less than 5 years of age. The mean time to consultation was 3.5 ± 1 days. The most frequent signs of severity on admission were dominated by neurological disorders 92.27% (prostration 58.6% and convulsion 24.1%), followed by severe anemia 72.7%, hyperlactatemia 54.6%, jaundice 25% and respiratory distress 21.82%.The other forms such as hypoglycemia, haemoglobinuria, renal failure were found in low proportions < 10%. Twenty-one patients died, coma (aOR = 15.54, CI 5.43–44.41, p < 0.01), hypoglycemia (aOR = 15.37, CI 2.17–65.3, p < 0.01), respiratory distress (aOR = 3.85, CI 1.53–9.73, p = 0.004) and abnormal bleeding (aOR = 16.42, CI 3.57–104.73, p = 0.003) were identified as independent predictors of a fatal outcome. Anemia was associated with decreased mortality.

Conclusion

Severe malaria remains a public health problem affecting mostly children under 5 years. Classification of malaria helps identify the most severely ill patients and aids early and appropriate management of the severe malaria cases.
Cooked pork-derived exosome nanovesicles mediate metabolic disorder—microRNA could be the culprit
Authors: Shen Linyuan , Ma Jianfeng , Yang Yiting , Liao Tianci , Wang Jinyong , Chen Lei , Zhang Shunhua , Zhao Ye , Niu Lili , Hao Xiaoxia , Jiang Anan , Li Xuewei , Gan Mailin , Zhu Li
Published: March 2023

In this study, exosomes from cooked meat were extracted by ultra-high-speed centrifugation. Approximately 80% of exosome vesicles were within 20–200 nm. In addition, the surface biomarkers of isolated exosomes were evaluated using flow cytometry. Further studies showed the exosomal microRNA profiles were different among cooked porcine muscle, fat and liver. Cooked pork-derived exosomes were chronically administered to ICR mice by drinking for 80 days. The mice plasma levels of miR-1, miR-133a-3p, miR-206 and miR-99a were increased to varying degrees after drinking exosome enriched water. Furthermore, GTT and ITT results confirmed an abnormal glucose metabolism and insulin resistance in mice. Moreover, the lipid droplets were significantly increased in the mice liver. A transcriptome analysis performed with mice liver samples identified 446 differentially expressed genes (DEGs). Functional enrichment analysis found that DEGs were enriched in metabolic pathways. Overall, the results suggest that microRNAs derived form cooked pork may function as a critical regulator of metabolic disorder in mice.
CRS: a circadian rhythm score model for predicting prognosis and treatment response in cancer patients
Authors: Liu Yuwei , Guo Shuang , Sun Yue , Zhang Caiyu , Gan Jing , Ning Shangwei , Wang Junwei
Published: March 2023

Background

Circadian rhythm regulates complex physiological activities in organisms. A strong link between circadian dysfunction and cancer has been identified. However, the factors of dysregulation and functional significance of circadian rhythm genes in cancer have received little attention.

Methods

In 18 cancer types from The Cancer Genome Atlas (TCGA), the differential expression and genetic variation of 48 circadian rhythm genes (CRGs) were examined. The circadian rhythm score (CRS) model was created using the ssGSEA method, and patients were divided into high and low groups based on the CRS. The Kaplan–Meier curve was created to assess the patient survival rate. Cibersort and estimate methods were used to identify the infiltration characteristics of immune cells between different CRS subgroups. Gene Expression Omnibus (GEO) dataset is used as verification queue and model stability evaluation queue. The CRS model's ability to predict chemotherapy and immunotherapy was assessed. Wilcoxon rank-sum test was used to compare the differences of CRS among different patients. We use CRS to identify potential "clock-drugs" by the connective map method.

Results

Transcriptomic and genomic analyses of 48 CRGs revealed that most core clock genes are up-regulated, while clock control genes are down-regulated. Furthermore, we show that copy number variation may affect CRGs aberrations. Based on CRS, patients can be classified into two groups with significant differences in survival and immune cell infiltration. Further studies showed that patients with low CRS were more sensitive to chemotherapy and immunotherapy. Additionally, we identified 10 compounds (e.g. flubendazole, MLN-4924, ingenol) that are positively associated with CRS, and have the potential to modulate circadian rhythms.

Conclusions

CRS can be utilized as a clinical indicator to predict patient prognosis and responsiveness to therapy, and identify potential "clock-drugs".
APE1 promotes non-homologous end joining by initiating DNA double-strand break formation and decreasing ubiquitination of artemis following oxidative genotoxic stress
Authors: Zhang Qin , Yang Lujie , Gao Han , Kuang Xunjie , Xiao He , Yang Chen , Cheng Yi , Zhang Lei , Guo Xin , Zhong Yong , Li Mengxia
Published: March 2023

Background

Apurinic/apyrimidinic endonuclease 1 (APE1) imparts radio-resistance by repairing isolated lesions via the base excision repair (BER) pathway, but whether and how it is involved in the formation and/or repair of DSBs remains mostly unknown.

Methods

Immunoblotting, fluorescent immunostaining, and the Comet assay were used to investigate the effect of APE1 on temporal DSB formation. Chromatin extraction, 53BP1 foci and co-immunoprecipitation, and rescue assays were used to evaluate non-homologous end joining (NHEJ) repair and APE1 effects. Colony formation, micronuclei measurements, flow cytometry, and xenograft models were used to examine the effect of APE1 expression on survival and synergistic lethality. Immunohistochemistry was used to detect APE1 and Artemis expression in cervical tumor tissues.

Results

APE1 is upregulated in cervical tumor tissue compared to paired peri-tumor, and elevated APE1 expression is associated with radio-resistance. APE1 mediates resistance to oxidative genotoxic stress by activating NHEJ repair. APE1, via its endonuclease activity, initiates clustered lesion conversion to DSBs (within 1 h), promoting the activation of the DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a key kinase in the DNA damage response (DDR) and NHEJ pathway. APE1 then participates in NHEJ repair directly by interacting with DNA- PKcs. Additionally, APE1 promotes NHEJ activity by decreasing the ubiquitination and degradation of Artemis, a nuclease with a critical role in the NHEJ pathway. Overall, APE1 deficiency leads to DSB accumulation at a late phase following oxidative stress (after 24 h), which also triggers activation of Ataxia-telangiectasia mutated (ATM), another key kinase of the DDR. Inhibition of ATM activity significantly promotes synergistic lethality with oxidative stress in APE1-deficient cells and tumors.

Conclusion

APE1 promotes NHEJ repair by temporally regulating DBS formation and repair following oxidative stress. This knowledge provides new insights into the design of combinatorial therapies and indicates the timing of administration and maintenance of DDR inhibitors for overcoming radio-resistance.
Different associations of general and abdominal obesity with upper and lower extremity artery disease among a community population in China
Authors: Wang Yong , Guo Xiaoyan , Zhang Yi , Zhang Ruiyan , Li Jue
Published: March 2023

Background

The associations between obesity and abnormalities of upper and lower extremity arteries remain to be elucidated. This study is aimed to investigate whether general obesity and abdominal obesity are associated with upper and lower extremity artery diseases in a Chinese community population.

Methods

This cross-sectional study included 13,144 participants in a Chinese community population. The associations between obesity parameters and abnormalities of upper and lower extremity arteries were evaluated. Multiple logistic regression analysis was used to assess the independence of associations between obesity indicators and abnormalities of peripheral arteries. Nonlinear relationship between body mass index (BMI) and risk of ankle-brachial index (ABI) ≤ 0.9 was evaluated using a restricted cubic spline model.

Results

The prevalence of ABI ≤ 0.9 and interarm blood pressure difference (IABPD) ≥ 15 mmHg in the subjects was 1.9% and 1.4% respectively. Waist circumference (WC) was independently associated with ABI ≤ 0.9 (OR 1.014, 95% CI 1.002–1.026, P = 0.017). Nevertheless, BMI was not independently associated with ABI ≤ 0.9 using linear statistical models. Meanwhile, BMI and WC were independently associated with IABPD ≥ 15 mmHg respectively (OR 1.139, 95% CI 1.100–1.181, P < 0.001, and OR 1.058, 95% CI 1.044–1.072, P < 0.001). Furthermore, prevalence of ABI ≤ 0.9 was displayed with a U-shaped pattern according to different BMI (< 20, 20 to < 25, 25 to < 30, and ≥ 30). Compared with BMI 20 to < 25, risk of ABI ≤ 0.9 was significantly increased when BMI < 20 or ≥ 30 respectively (OR 2.595, 95% CI 1.745–3.858, P < 0.001, or OR 1.618, 95% CI 1.087–2.410, P = 0.018). Restricted cubic spline analysis indicated a significant U-shaped relationship between BMI and risk of ABI ≤ 0.9 (P for non-linearity < 0.001). However, prevalence of IABPD ≥ 15 mmHg was significantly increased with incremental BMI (P for trend < 0.001). Compared with BMI 20 to < 25, the risk of IABPD ≥ 15 mmHg was significantly increased when BMI ≥ 30 (OR 3.218, 95% CI 2.133–4.855, P < 0.001).

Conclusions

Abdominal obesity is an independent risk factor for upper and lower extremity artery diseases. Meanwhile, general obesity is also independently associated with upper extremity artery disease. However, the association between general obesity and lower extremity artery disease is displayed with a U-shaped pattern.
Developing non-invasive 3D quantificational imaging for intelligent coconut analysis system with X-ray
Authors: Zhang Yu , Liu Qianfan , Chen Jing , Sun Chengxu , Lin Shenghuang , Cao Hongxing , Xiao Zhaolin , Huang Mengxing
Published: March 2023

Background

As one of the largest drupes in the world, the coconut has a special multilayered structure and a seed development process that is not yet fully understood. On the one hand, the special structure of the coconut pericarp prevents the development of external damage to the coconut fruit, and on the other hand, the thickness of the coconut shell makes it difficult to observe the development of bacteria inside it. In addition, coconut takes about 1 year to progress from pollination to maturity. During the long development process, coconut development is vulnerable to natural disasters, cold waves, typhoons, etc. Therefore, nondestructive observation of the internal development process remains a highly important and challenging task. In this study, We proposed an intelligent system for building a three-dimensional (3D) quantitative imaging model of coconut fruit using Computed Tomography (CT) images. Cross-sectional images of coconut fruit were obtained by spiral CT scanning. Then a point cloud model was built by extracting 3D coordinate data and RGB values. The point cloud model was denoised using the cluster denoising method. Finally, a 3D quantitative model of a coconut fruit was established.

Results

The innovations of this work are as follows. 1) Using CT scans, we obtained a total of 37,950 non-destructive internal growth change maps of various types of coconuts to establish a coconut data set called “CCID”, which provides powerful graphical data support for coconut research. 2) Based on this data set, we built a coconut intelligence system. By inputting a batch of coconut images into a 3D point cloud map, the internal structure information can be ascertained, the entire contour can be drawn and rendered according to need, and the long diameter, short diameter and volume of the required structure can be obtained. We maintained quantitative observation on a batch of local Hainan coconuts for more than 3 months. With 40 coconuts as test cases, the high accuracy of the model generated by the system is proven. The system has a good application value and broad popularization prospects in the cultivation and optimization of coconut fruit.

Conclusion

The evaluation results show that the 3D quantitative imaging model has high accuracy in capturing the internal development process of coconut fruits. The system can effectively assist growers in internal developmental observations and in structural data acquisition from coconut, thus providing decision-making support for improving the cultivation conditions of coconuts.
Comparison of 270-degree percutaneous transforaminal endoscopic decompression under local anesthesia and minimally invasive transforaminal lumbar interbody fusion in the treatment of geriatric lateral recess stenosis associated with degenerative lumbar spondylolisthesis
Authors: Li Yubo , Cheng Xiaokang , Chen Bin
Published: March 2023

Purpose

Various lumbar decompression techniques have been used for the treatment of degenerative lumbar spondylolisthesis (DLS). Few studies have compared the clinical efficacy of percutaneous transforaminal endoscopic decompression (PTED) and minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) in the treatment of lateral recess stenosis associated with DLS (LRS-DLS) in geriatric patients. The objective of the study was to compare the safety and short-term clinical efficacy of 270-degree PTED under local anesthesia and MIS-TLIF in the treatment of LRS-DLS in Chinese geriatric patients over 60 years old.

Materials and methods

From January 2017 to August 2019, the data of 90 consecutive geriatric patients with single-level L4-5 LRS-DLS were retrospectively reviewed, including those in the PTED group (n = 44) and MIS-TLIF group (n = 46). The patients were followed up for at least 1 year. Patient demographics and perioperative outcomes were reviewed before and after surgery. The Oswestry Disability Index (ODI), visual analog scale (VAS) for leg pain, and modified MacNab criteria were used to evaluate the clinical outcomes. X-ray examinations were performed 1 year after surgery to assess the progression of spondylolisthesis in the PTED group and bone fusion in the MIS-TLIF group.

Results

The mean patient ages in the PTED and MIS-TLIF groups were 70.3 years and 68.6 years, respectively. Both the PTED and MIS-TLIF groups demonstrated significant improvements in the VAS score for leg pain and ODI score, and no significant differences were found between the groups at any time point (P > 0.05). Although the good-to-excellent rate of the modified MacNab criteria in the PTED group was similar to that in the MIS-TLIF group (90.9% vs. 91.3%, P > 0.05), PTED was advantageous in terms of the operative time, estimated blood loss, incision length, drainage time, drainage volume, length of hospital stay, and complications.

Conclusions

Both PTED and MIS-TLIF led to favorable outcomes in geriatric patients with LRS-DLS. In addition, PTED caused less severe trauma and fewer complications. In terms of perioperative quality-of-life and clinical outcomes, PTED could supplement MIS-TLIF in geriatric patients with LRS-DLS.
Retraction Note: Long non-coding RNA SLC2A1-AS1 induced by GLI3 promotes aerobic glycolysis and progression in esophageal squamous cell carcinoma by sponging miR-378a-3p to enhance Glut1 expression
Authors: Liu Hongtao , Zhang Qing , Song Yinsen , Hao Yibin , Cui Yunxia , Zhang Xin , Zhang Xueying , Qin Yue , Zhu Guangzhao , Wang Feng , Dang Jinghan , Ma Shanshan , Zhang Yanting , Guo Wenna , Li Shenglei , Guan Fangxia , Fan Tianli
Published: March 2023

This article has been retracted. Please see the Retraction Notice for more detail: https://10.1186/s13046-021-02081-8.
Rehabilitation of severe dentofacial deformity after early radiotherapy of retinoblastoma: a case report
Authors: Kim So-Hyun , Choi Tae-Hyun , Lee You-Sun , Kim Young-Kyun , Jo Deuk-Won , Kim Baek-Kyu , Choi He-Li , Lee Nam-Ki
Published: March 2023

Background

Retinoblastoma is an intraocular cancer of infancy and childhood, which has been treated with radiation therapy and chemotherapy. Radiation on growing patients can cause deterioration in maxillofacial growth and development that leads to severe skeletal discrepancies between the maxilla and mandible, and dental problems such as crossbite, openbite, and hypodontia.

Case presentation

We present the case of a 19-year-old Korean man with chewing disability and dentofacial deformities. He had undergone enucleation of the right eye and radiation therapy of the left eye due to retinoblastoma 100 days after birth. Subsequently, he received cancer therapy for the secondary nasopharyngeal cancer at the age of 11 years. He was diagnosed with severe skeletal deformity including sagittal, transverse, and vertical growth deficiency of the maxilla and midface, and with class III malocclusion, severe anterior and posterior crossbite, posterior openbite, multiple missing upper incisors, right premolars, and second molars, and impaction of the lower right second molars. To restore impaired functions and esthetics of the jaw and dentition, the orthodontic treatment combined with two jaw surgery was performed. At the end of surgical orthodontics, dental implants were placed for prosthetic treatment of missing teeth. Additional plastic surgery for zygoma elevation was done with calvarial bone graft followed by fat graft. Facial esthetics and occlusal functions of patient were favorably enhanced with the improvement of skeletal discrepancy and the rehabilitation of maxillary dentition by prosthetic work. At the 2-year follow-up, the skeletal and dental relationships and implant prosthetics were well maintained.

Conclusion

In an adult patient with dentofacial deformities caused by early cancer therapy in the head and neck area, interdisciplinary interventions including additional plastic surgery of zygoma depression and prosthetic work of missing teeth as well as surgical–orthodontic treatment could establish favorable facial esthetics and oral rehabilitation.
Adult education and entrepreneurship: getting young adults involved
Authors: Biney Isaac Kofi
Published: March 2023

This paper reflects on adult education and the fostering of an entrepreneurial mindset. It solicits roles adult education, especially the non-formal education (NFE), could play in fostering entrepreneurial mindset of young adults. It examines short-to-medium, and long-term plans of young adults in nurturing growth and enterprising mindsets through involvement in NFE endeavours. It probes into entrepreneurial opportunities and challenges in the communities that young adults could recognise and create enterprises for themselves. This is a narrative case study which purposively selected, as the unit of analysis, an adult learner who was operating a micro-enterprise and pursuing a degree programme at Accra Learning Centre. An in-depth telephone interview was conducted to garner stories and experiences young adult have had innovating with an entrepreneurial mindset. Thematic, analytical, narrative and interpretivist approaches were adapted in presenting the results. The participant had a good experience in his start up, he learned lessons, and worked hard to grow his micro-enterprises. The savings culture he built allowed him to cope with difficulties posed by Covid-19 pandemic to his micro-enterprises. Governments and stakeholders in entrepreneurship should via policy, advisory and financial support motivate young adults to invest in entrepreneurship and create sustainable jobs for themselves.
A crowdsourcing database for the copy-number variation of the Spanish population
Authors: López-López Daniel , Roldán Gema , Fernández-Rueda Jose L. , Bostelmann Gerrit , Carmona Rosario , Aquino Virginia , Perez-Florido Javier , Ortuño Francisco , Pita Guillermo , Núñez-Torres Rocío , González-Neira Anna ,   CSVS Crowdsourcing Group, Alonso Angel , Salgado-Garrido Josefa , Pasalodos-Sanchez Sara , Ayuso Carmen , Minguez Pablo , Avila-Fernandez Almudena , Corton Marta , Artuch Rafael , Borrego Salud , Antiñolo Guillermo , Carracedo Angel , Amigo Jorge , Castaño Luis Antonio , Tejada Isabel , Delmiro Aitor , Espinos Carmina , Grinberg Daniel , Guillén Encarnación , Lapunzina Pablo , Lopez-Escámez Jose Antonio , Gallego-Martinez Alvaro , Martí Ramón , Rovira Eulalia , Millán José Mª , Moreno Miguel Angel , Morin Matías , Moreno-Galdó Antonio , Fernández-Cancio Mónica , Morte Beatriz , Mulero Victoriano , García Diana , Nunes Virginia , Palau Francesc , Perez Belén , Jurado Luis Pérez , Perona Rosario , Pujol Aurora , Ramos Feliciano , Lopez Esther , Ribes Antonia , Rosell Jordi , Surrallés Jordi , Peña-Chilet María , Dopazo Joaquin
Published: March 2023

Background

Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especially at the level of the local population, is a critical factor for distinguishing pathogenic from non-pathogenic variation in the discovery of new disease variants.

Results

Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelated Spanish individuals. By means of a collaborative crowdsourcing effort whole genome and whole exome sequencing data, produced by local genomic projects and for other purposes, is continuously collected. Once checked both, the Spanish ancestry and the lack of kinship with other individuals in the SPACNACS, the CNVs are inferred for these sequences and they are used to populate the database. A web interface allows querying the database with different filters that include ICD10 upper categories. This allows discarding samples from the disease under study and obtaining pseudo-control CNV profiles from the local population. We also show here additional studies on the local impact of CNVs in some phenotypes and on pharmacogenomic variants. SPACNACS can be accessed at: http://csvs.clinbioinfosspa.es/spacnacs/.

Conclusion

SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build a local reference database.
Non-pharmaceutical interventions for COVID-19 reduced the incidence of infectious diseases: a controlled interrupted time-series study
Authors: Zhang Wenyi , Wu Yao , Wen Bo , Zhang Yongming , Wang Yong , Yin Wenwu , Sun Shanhua , Wei Xianyu , Sun Hailong , Zhang Zhijie , Li Shanshan , Guo Yuming
Published: March 2023

Background

Non-pharmaceutical interventions (NPIs) have been implemented worldwide to suppress the spread of coronavirus disease 2019 (COVID-19). However, few studies have evaluated the effect of NPIs on other infectious diseases and none has assessed the avoided disease burden associated with NPIs. We aimed to assess the effect of NPIs on the incidence of infectious diseases during the COVID-19 pandemic in 2020 and evaluate the health economic benefits related to the reduction in the incidence of infectious diseases.

Methods

Data on 10 notifiable infectious diseases across China during 2010–2020 were extracted from the China Information System for Disease Control and Prevention. A two-stage controlled interrupted time-series design with a quasi-Poisson regression model was used to examine the impact of NPIs on the incidence of infectious diseases. The analysis was first performed at the provincial-level administrative divisions (PLADs) level in China, then the PLAD-specific estimates were pooled using a random-effect meta-analysis.

Results

A total of 61,393,737 cases of 10 infectious diseases were identified. The implementation of NPIs was associated with 5.13 million (95% confidence interval [CI] 3.45‒7.42) avoided cases and USD 1.77 billion (95%CI 1.18‒2.57) avoided hospital expenditures in 2020. There were 4.52 million (95%CI 3.00‒6.63) avoided cases for children and adolescents, corresponding to 88.2% of total avoided cases. The top leading cause of avoided burden attributable to NPIs was influenza [avoided percentage (AP): 89.3%; 95%CI 84.5‒92.6]. Socioeconomic status and population density were effect modifiers.

Conclusions

NPIs for COVID-19 could effectively control the prevalence of infectious diseases, with patterns of risk varying by socioeconomic status. These findings have important implications for informing targeted strategies to prevent infectious diseases.
Neurofibromatosis type 1-dependent alterations in mouse microglia function are not cell-intrinsic
Authors: Logiacco Francesca , Grzegorzek Laura Cathleen , Cordell Elizabeth C. , Popp Oliver , Mertins Philipp , Gutmann David H. , Kettenmann Helmut , Semtner Marcus
Published: March 2023

We previously discovered a sex-by-genotype defect in microglia function using a heterozygous germline knockout mouse model of Neurofibromatosis type 1 (Nf1 ± mice), in which only microglia from male Nf1 ± mice exhibited defects in purinergic signaling. Herein, we leveraged an unbiased proteomic approach to demonstrate that male, but not female, heterozygous Nf1 ± microglia exhibit differences in protein expression, which largely reflect pathways involved in cytoskeletal organization. In keeping with these predicted defects in cytoskeletal function, only male Nf1 ± microglia had reduced process arborization and surveillance capacity. To determine whether these microglial defects were cell autonomous or reflected adaptive responses to Nf1 heterozygosity in other cells in the brain, we generated conditional microglia Nf1-mutant knockout mice by intercrossing Nf1flox/flox with Cx3cr1-CreER mice (Nf1flox/wt; Cx3cr1-CreER mice, Nf1MG ± mice). Surprisingly, neither male nor female Nf1MG ± mouse microglia had impaired process arborization or surveillance capacity. In contrast, when Nf1 heterozygosity was generated in neurons, astrocytes and oligodendrocytes by intercrossing Nf1flox/flox with hGFAP-Cre mice (Nf1flox/wt; hGFAP-Cre mice, Nf1GFAP ± mice), the microglia defects found in Nf1 ± mice were recapitulated. Collectively, these data reveal that Nf1 ± sexually dimorphic microglia abnormalities are likely not cell-intrinsic properties, but rather reflect a response to Nf1 heterozygosity in other brain cells.
Effect of glycerol triglycidyl ether on the dimensional stability and flexibility of photographic gelatine films
Authors: Liu Jiaojiao , Yang Junchang , Li Yuhu , Hu Daodao , Chen Ran
Published: March 2023

The gelatine emulsions used in historical photographs can shrink and become brittle under alternating dry–wet environmental conditions, which would result in curling and fracture of the gelatin paper photographs, thereby degrading their quality and threatening the long-term inheritance of such cultural heritage. To improve the stability and flexibility of gelatine films under dry–wet cycling, glycerol triglycidyl ether (GPE) was employed as a synergistic crosslinking and plasticising agent. The plasticising effect of GPE on the dimensional stability and flexibility of gelatine films in alternating dry–wet environments was firstly studied. Gelatine films with different contents of GPE were prepared and their dimensional changes during dry–wet cycling were investigated. The results indicate that GPE greatly enhances the dimensional stability of the films during cycling. By analysing the swelling behaviour, molecular structure, mechanical strength, fracture cross-sections, and other properties of the gelatine–GPE films, it was confirmed that the addition of GPE greatly reduces the moisture absorption and swelling of gelatine and improves its moisture stability. Furthermore, benefiting from GPE as a crosslinking agent, the mechanical strength and flexibility of the gelatine films were both enhanced. In this study, the modification of gelatin film by GPE provides experimental evidence for the subsequent research on the application of restoration and conservation for the gelatin paper photographs.
Demonstration of p-type stack-channel ternary logic device using scalable DNTT patterning process
Authors: Lee Yongsu , Kwon Heejin , Kim Seung-Mo , Lee Ho-In , Kim Kiyung , Lee Hae-Won , Kim So-Young , Hwang Hyeon Jun , Lee Byoung Hun
Published: March 2023

A p-type ternary logic device with a stack-channel structure is demonstrated using an organic p-type semiconductor, dinaphtho[2,3-b:2',3'-f]thieno[3,2-b]thiophene (DNTT). A photolithography-based patterning process is developed to fabricate scaled electronic devices with complex organic semiconductor channel structures. Two layers of thin DNTT with a separation layer are fabricated via the low-temperature deposition process, and for the first time, p-type ternary logic switching characteristics exhibiting zero differential conductance in the intermediate current state are demonstrated. The stability of the DNTT stack-channel ternary logic switch device is confirmed by implementing a resistive-load ternary logic inverter circuit.
Acceptance and hesitancy to receive COVID-19 vaccine among university students in Egypt: a nationwide survey
Authors: Tharwat Samar , Saad Ahmed Mohammed , Nassar Mohammed Kamal , Nassar Dalia Kamal
Published: March 2023

Background

The public's willingness to be vaccinated will determine the success of the COVID-19 vaccination program. The aim of this study was to identify acceptance and hesitancy to receive COVID-19 vaccine among university students in Egypt, assess their level of knowledge about COVID-19 vaccine and identify factors that influence their intention towards COVID-19 vaccination.

Methods

A standardized and self-administered questionnaire was distributed among university students allover Egypt. The questionnaire included sociodemographic data, intention to receive COVID-19 vaccine, knowledge and beliefs about it and status of COVID-19 vaccination. Logistic regression analysis was used to determine factors associated with COVID-19 vaccine acceptancy.

Results

A total of 1071 of university students were involved, with a mean age of 20.51 years (SD = 1.66) and 68.2% were females. COVID-19 vaccination acceptability rate was 69.0% while hesitancy was 20.8% and resistancy was 10.2%. Median knowledge score of 4 out of 8 (IQR = 8). The main motivation for vaccine acceptance was fear of being infected (53.6%) and desire to get back to normal life (51.0%) while the main barriers against getting vaccinated were being afraid of serious side effects. Univariate regression analysis revealed an increasing likelihood of vaccine acceptancy associated with an active lifestyle (OR 1.35, 95% CI 1.04–1.75, p = 0.025), a high knowledge score (OR 1.53, 95% CI 1.42–1.66, p < 0.001), and positive vaccine beliefs.

Conclusion

There is a high rate of acceptability of COVID-19 vaccination among university students. Vaccine acceptability is associated with an active lifestyle, a high knowledge score and positive vaccine beliefs. Educational campaigns and efforts aiming to raise awareness about safety and efficacy of COVID-19 vaccines need to be directed to this important population.
Patient and public involvement in research: a review of practical resources for young investigators
Authors: Arumugam Ashokan , Phillips Lawrence Rick , Moore Ann , Kumaran Senthil D. , Sampath Kesava Kovanur , Migliorini Filippo , Maffulli Nicola , Ranganadhababu Bathri Narayanan , Hegazy Fatma , Botto-van Bemden Angie
Published: March 2023

Patient and public involvement (PPI) in every aspect of research will add valuable insights from patients’ experiences, help to explore barriers and facilitators to their compliance/adherence to assessment and treatment methods, bring meaningful outcomes that could meet their expectations, needs and preferences, reduce health care costs, and improve dissemination of research findings. It is essential to ensure competence of the research team by capacity building with available resources on PPI. This review summarizes practical resources for PPI in various stages of research projects—conception, co-creation, design (including qualitative or mixed methods), execution, implementation, feedback, authorship, acknowledgement and remuneration of patient research partners, and dissemination and communication of research findings with PPI. We have briefly summarized the recommendations and checklists, amongst others, for PPI in rheumatic and musculoskeletal research (e.g. the European Alliance of Associations for Rheumatology (EULAR) recommendations, the Core Outcome Measures in Effectiveness Trials (COMET) checklist and the Guidance for Reporting Involvement of Patients and the Public (GRIPP) checklist). Various tools that could be used to facilitate participation, communication and co-creation of research projects with PPI are highlighted in the review. We shed light on the opportunities and challenges for young investigators involving PPI in their research projects, and have summarized various resources that could be used to enhance PPI in various phases/aspects of research. A summary of web links to various tools and resources for PPI in various stages of research is provided in Additional file 1.
Origanum majorana L. extract alleviates dexamethasone-induced hepatotoxicity, oxidative stress and pathological alterations in vivo
Authors: Abou- Seif Howida Sayed , Hozayen Walaa Gamal
Published: March 2023

Background

Origanum majorana(O. majorana) is one of the most widely used herbs in Egypt due to its antioxidant, anti-inflammatory, anti-genotoxic, antimutagenic, anticoagulant and beneficial properties. Our study's main goal is to determine how wellO. majoranaleaf extract can reduce hepatotoxicity and oxidative stress produced by dexamethasone (DXM). Thirty female rats were divided into three groups of ten. Animals in group1 received distilled water daily for eight weeks and served as control. Those in group 2 exposed subcutaneously to 0.1 mg/kg body weight of DXM three times per week for eight weeks and served as the toxic group, while those in group 3 were treated daily and orally with 100 mg/kg ofO. majoranaaqueous extract + 0.1 mg/kg of DXM three times per week for eight weeks and served as treated group.

Results

Due to DXM treatment, the activities of liver function markers were significantly elevated (P < 0.0001), whereasO. majoranapretreated animals improved or reduced the elevated liver function enzyme activities. Dexamethasone administration considerably enhancing oxidative stress which rose (P < 0.0001) MDA concentration and attenuated the antioxidant defense system by decreasing the activities of GST, GSP, GSR, and CAT significantly in liver homogenate when compared to control animals. The results further demonstrated that pretreatment withO. majoranaboosted the antioxidant defenses against the damaging effects of DXM.

Conclusion

It can be said that dexamethasone exposure induced- hepatotoxicity and oxidative stress in rats that repaired byO. majoranaaqueous extract which had the ability to reduce the impact of hepatic damage. To evaluate the health benefits and safety ofO. majoranain individuals, more clinical research is needed.

Graphical abstract
Android malware category detection using a novel feature vector-based machine learning model
Authors: Manzil Hashida Haidros Rahima , Manohar Naik S.
Published: March 2023

Malware attacks on the Android platform are rapidly increasing due to the high consumer adoption of Android smartphones. Advanced technologies have motivated cyber-criminals to actively create and disseminate a wide range of malware on Android smartphones. The researchers have conducted numerous studies on the detection of Android malware, but the majority of the works are based on the detection of generic Android malware. The detection based on malware categories will provide more insights about the malicious patterns of the malware. Therefore, this paper presents a detection solution for different Android malware categories, including adware, banking, SMS malware, and riskware. In this paper, a novel Huffman encoding-based feature vector generation technique is proposed. The experiments have proved that this novel approach significantly improves the efficiency of the detection model. This method makes use of system call frequencies as features to extract malware’s dynamic behavior patterns. The proposed model was evaluated using machine learning and deep learning methods. The results show that the proposed model with the Random Forest classifier outperforms some existing methodologies with a detection accuracy of 98.70%.
Artificial intelligence-based traffic flow prediction: a comprehensive review
Authors: Sayed Sayed A. , Abdel-Hamid Yasser , Hefny Hesham Ahmed
Published: March 2023

The expansion of the Internet of Things has resulted in new creative solutions, such as smart cities, that have made our lives more productive, convenient, and intelligent. The core of smart cities is the Intelligent Transportation System (ITS) which has been integrated into several smart city applications that improve transportation and mobility. ITS aims to resolve many traffic issues, such as traffic congestion issues. Recently, new traffic flow prediction models and frameworks have been rapidly developed in tandem with the introduction of artificial intelligence approaches to improve the accuracy of traffic flow prediction. Traffic forecasting is a crucial duty in the transportation industry. It can significantly affect the design of road constructions and projects in addition to its importance for route planning and traffic rules. Furthermore, traffic congestion is a critical issue in urban areas and overcrowded cities. Therefore, it must be accurately evaluated and forecasted. Hence, a reliable and efficient method for predicting traffic is essential. The main objectives of this study are: First, present a comprehensive review of the most popular machine learning and deep learning techniques applied in traffic prediction. Second, identifying inherent obstacles to applying machine learning and deep learning in the domain of traffic prediction.
Angiomatous antrochoanal polyp: a rare entity of choanal polyps
Authors: Ali Alhussien Awad , Sayed Ramadan Hashem , Dahy Khaled Gamal
Published: March 2023

Introduction

Angiomatous polyp is a benign, non-neoplastic variant of antrochoanal polyp that is extremely uncommon.

Objectives

Reviewing the prevalence, clinical characteristics, preoperative assessment, histology, and treatment of angiomatous antrochoanal polyps.

Methods

All patients presented with antrochoanal polyps accompanied by epistaxis during the period from 2012 to 2022 were included in the study. Based on a detailed history, clinical examination, findings of nasal endoscopy, radiological examination (CT scan nose and paranasal sinuses), and intraoperative data. A histopathological examination for the polyp biopsy specimens was done for all patients presented with epistaxis.

Results

Over 10 years, among 94 patients with lesions that met the diagnostic criteria for antrochoanal polyp, 16 patients (17%) presented with recurrent ipsilateral epistaxis. All lesions were unilateral, 9 on the right side and 7 on the left side, with no affection of the contralateral sinonasal cavity. Clinical, radiological, and histopathological examinations showed a picture suggestive of an angiomatous antrochoanal polyp. Endoscopic sinus surgery under general anesthesia was performed and no recurrence was detected in the patients with angiomatous antrochoanal polyps.

Conclusion

It seems that epistaxis exclusively occurs in the angiomatous variety of the antrochoanal polyp. This polyp is not only a variation of the common antrochoanal polyp but rather a unique variety. The identification of the distinctive physical characteristics of an angiomatous antrochoanal polyp will aid in avoiding the incorrect diagnosis of a vascular tumor and the need for unnecessary surgery.
Newborn Time - improved newborn care based on video and artificial intelligence - study protocol
Authors: Engan Kjersti , Meinich-Bache Øyvind , Brunner Sara , Myklebust Helge , Rong Chunming , García-Torres Jorge , Ersdal Hege L. , Johannessen Anders , Pike Hanne Markhus , Rettedal Siren
Published: March 2023

Background

Approximately 3-8% of all newborns do not breathe spontaneously at birth, and require time critical resuscitation. Resuscitation guidelines are mostly based on best practice, and more research on newborn resucitation is highly sought for.

Methods

The NewbornTime project will develop artificial intelligence (AI) based solutions for activity recognition during newborn resuscitations based on both visible light spectrum videos and infrared spectrum (thermal) videos. In addition, time-of-birth detection will be developed using thermal videos from the delivery rooms. Deep Neural Network models will be developed, focusing on methods for limited supervision and solutions adapting to on-site environments. A timeline description of the video analysis output enables objective analysis of resuscitation events. The project further aims to use machine learning to find patterns in large amount of such timeline data to better understand how newborn resuscitation treatment is given and how it can be improved. The automatic video analysis and timeline generation will be developed for on-site usage, allowing for data-driven simulation and clinical debrief for health-care providers, and paving the way for automated real-time feedback. This brings added value to the medical staff, mothers and newborns, and society at large.

Discussion

The project is a interdisciplinary collaboration, combining AI, image processing, blockchain and cloud technology, with medical expertise, which will lead to increased competences and capacities in these various fields.

Trial registration

ISRCTNregistry, number ISRCTN12236970