The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders

Author(s):  
Avi Fellner ◽  
Noa Ruhrman-Shahar ◽  
Naama Orenstein ◽  
Gabriel Lidzbarsky ◽  
Alan R. Shuldiner ◽  
...  
Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 412
Author(s):  
Thuan Duc Lao ◽  
Thuy Ai Huyen Le

The abnormal expression of circulating miRNAs (c-miRNAs) has become an emerging field in the development of miRNAs-based diagnostic and therapeutic tools for human diseases, including osteoarthritis (OA). OA is the most common form of arthritis leading to disability and a major socioeconomic burden. The abnormal expression of miRNAs plays important roles in the pathogenesis of OA. Unraveling the role of miRNAs in the pathogenesis of OA will throw light on the potential for the development of miRNAs-based diagnostic and therapeutic tools for OA. This article reviews and highlights recent advances in the study of miRNAs in OA, with specific demonstration of the functions of miRNA, especially c-miRNA, in OA pathogenesis as well as its potential implication in the treatment of OA. Based on a systematic literature search using online databases, we figured out the following main points: (1) the integrative systematic review of c-mRNAs and its target genes related to OA pathogenesis; (2) the potential use of c-miRNAs for OA diagnosis purposes as potential biomarkers; and (3) for therapeutic purposes, and we also highlight certain remedies that regulate microRNA expression based on its target genes.


2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
A Rajgor ◽  
A McQueen ◽  
T Ali ◽  
E Aboagye ◽  
B Obara ◽  
...  

Abstract Background Radiomics is a novel method of extracting data from medical images that is difficult to visualise through the naked eye. This technique transforms digital images that hold information on pathology into high-dimensional-data for analysis. Radiomics has the potential to enhance laryngeal cancer care and to date, has shown promise in various other specialties. Aim The aim of this review is to summarise the applications of this technique to laryngeal cancer and potential future benefits. Method A comprehensive systematic review-informed search of the MEDLINE and EMBASE online databases was undertaken. Keywords ‘laryngeal cancer’ OR ‘larynx’ OR ‘larynx cancer’ OR ‘head and neck cancer’ were combined with ‘radiomic’ OR ‘signature’ OR ‘machine learning’ OR ‘artificial intelligence’. Additional articles were obtained from bibliographies using the ‘snowball method’. Results Seventeen articles were identified that evaluated the role of radiomics in laryngeal cancer. Two studies affirmed the value of radiomics in improving the accuracy of staging, whilst fifteen studies highlighted the potential prognostic value of radiomics in laryngeal cancer. Twelve (of thirteen) studies incorporated an array of different head and neck cancers in the analysis and only one study assessed laryngeal cancer exclusively. Conclusions Literature to date has various limitations including, small and heterogeneous cohorts incorporating patients with head and neck cancers of distinct anatomical subsites and stages. The lack of uniform data on solely laryngeal cancer and radiomics means drawing conclusions is difficult, although these studies have affirmed its value. Further large prospective studies exclusively in laryngeal cancer are required to unlock its true potential.


2021 ◽  
Vol 2 (4) ◽  
pp. 492-508
Author(s):  
Muhammad Asif ◽  
Majid Ali ◽  
Abdoulaye M’Begniga ◽  
Zhou Guoqing ◽  
Liu Yang ◽  
...  

China Pakistan Economic Corridor (CPEC) is an important Belt and Road Initiative (BRI) project that integrates many countries. The CPEC project will play a vital role to make more strong relationship between China and Pakistan. CPEC project will enhance cooperation between Pakistan and China in field of socio-cultural and regional Bilateral Cooperation and exchange. Despite growth between two countries in the economic and trade field, there is a vital area to explore the cultural exchange, cooperation, and communication needed to improve from both sides. In this theoretical study method, the data has been obtained from primary and secondary sources. The primary sources consisted of books, official databases of China and Pakistan, MoU signed b/w both countries, etc., as the secondary sources consisted of research papers, newspapers, journals, online databases, etc. This paper has an analytical overview of the time value and general cultural and artistic exchanges between China and Pakistan. Further, the paper discussed the relationship between literature, art, and economics. In this paper, researchers have also examined the significant role of people-to-people contact for socio-cultural exchange and cooperation between China and Pakistan.


2021 ◽  
pp. 34-42
Author(s):  
SMH Kabir ◽  
AAhad M. Osman-Gani

Health safety is now a global concern. With the continuous growth of global pandemic in recent times caused by COVID-19 infectious disease, numerous remedies developed which were mostly supportive rather than curative. The objective of this study was to scrutinize reported literature on the inspiration of medical treatment based on Prophetic medicines in the fight against COVID-19. The inception of treatment guidelines using Prophetic medicines is the ideal combination of a specific arrangement of connections between science and Islam. A review of the literature has been conducted across online databases available by Medline, PubMed, Google Scholar, Science Direct, Directory of Open Access Journals (DOAJ) and Cross Reference, while searched to recognize articles associated with Prophetic medicines related to the treatment of COVID-19. Qualified studies addressed the treatment guidelines using Nigella Sativa, Anthemis Hyalina and Natural Honey were accounted. The findings revealed useful information that can be valuable to researchers working on the treatment of corona virus. Alternatively, this paper is one of the few systematic reviews on the treatment guidelines based on prophetic medicines in the fight against COVID-19.


2018 ◽  
Vol 50 (1) ◽  
pp. 66-78 ◽  
Author(s):  
Qingyan Mao ◽  
Zhen Chen ◽  
Kun Wang ◽  
Renfang Xu ◽  
Hao Lu ◽  
...  

Background/Aims: Several recent studies have demonstrated that Stathmin 1expression may be closely associated with prognosis in patients with various types of cancers. In the present study, we conducted a meta-analysis of all available studies in the English literature to assess the prognostic value of Stathmin 1expression in patients with solid cancers. Methods: The online databases PubMed, Embase, and Web of Science were searched for literature regarding Stathmin 1 and its association with patient outcomes associated with solid cancers. Results: A total of 23 articles including 26 studies that contained 5 335 patients were retrieved and analyzed. Our results indicated that high Stathmin 1 expression yielded a worse overall survival (OS) (hazard ratio [HR] = 2.17, 95% confidence interval [CI]: 1.81–2.60), disease-free survival (DFS) (HR = 2.46, 95% CI: 2.00–3.02), disease-specific survival (DSS) (HR = 1.98, 95% CI: 1.58– 2.47) and progression-free survival (PFS)/recurrence-free survival (RFS) (HR = 2.09, 95% CI: 1.51–2.89). Furthermore, the association of high Stathmin 1 expression with poor survival was significant even for sub-group analyses of different tumor types, ethnicities, methods used to calculate HRs, detected methods, and analysis types. Conclusion: In summary, this meta-analysis determined that high Stathmin 1 expression is associated with poor prognosis in patients with solid cancers and expression of this protein could be a clinically useful prognostic biomarker.


Author(s):  
Anastasia Martin ◽  
Iris Martine Blom ◽  
Gemma Whyatt ◽  
Raghav Shaunak ◽  
Maria Inês Francisco Viva ◽  
...  

ABSTRACT Objectives: The role of medical students in the current coronavirus disease 2019 (COVID-19) pandemic is rapidly evolving. The aim of this review is to explore the involvement of medical students in past global health emergencies, to help inform current and future scenarios. Methods: A rapid systematic review was undertaken, including articles from online databases discussing the roles, willingness and appropriateness of medical student involvement in global health emergencies. Data were extracted, appraised and written up as a narrative synthesis. This study was registered with PROSPERO (CRD42020177231). Results: Twenty-eight articles were included. Medical students played a wide variety of clinical and nonclinical roles including education and logistics, although medical assistance was the most commonly reported role. Challenges included a lack of preparedness and negative mental health impacts. A total of 91.7% of included articles about willingness found medical students were more willing to be involved than not. Conclusions: This review shows medical students are capable and willing to be involved in global health emergencies. However, there should be clear protocols for the roles that they play, taking into account the appropriateness. As a rapid review, there were study limitations and more research is required regarding the impact of these roles on medical students and the system.


2015 ◽  
Vol 2015 ◽  
pp. 1-12 ◽  
Author(s):  
Chuancheng Wu ◽  
Qiuyan Liu ◽  
Baoying Liu

Background. Recent studies have shown that microRNAs (miRNAs) have diagnostic values in various cancers. This meta-analysis seeks to summarize the global diagnostic role of miR-155 in patients with a variety of carcinomas.Methods. Eligible studies were retrieved by searching the online databases, and the bivariate meta-analysis model was employed to generate the summary receiver operator characteristic (SROC) curve.Results. A total of 17 studies dealing with various carcinomas were finally included. The results showed that single miR-155 testing allowed for the discrimination between cancer patients and healthy donors with a sensitivity of 0.82 (95% CI: 0.73–0.88) and specificity of 0.77 (95% CI: 0.70–0.83), corresponding to an area under curve (AUC) of 0.85, while a panel comprising expressions of miR-155 yielded a sensitivity of 0.76 (95% CI: 0.68–0.82) and specificity of 0.82 (95% CI: 0.77–0.86) in diagnosing cancers. The subgroup analysis displayed that serum miR-155 test harvested higher accuracy than plasma-based assay (the AUC, sensitivity, and specificity were, resp., 0.87 versus 0.73, 0.78 versus 0.74, and 0.77 versus 0.70).Conclusions. Our data suggest that single miR-155 profiling has a potential to be used as a screening test for various carcinomas, and parallel testing of miR-155 confers an improved specificity compared to single miR-155 analysis.


2020 ◽  
Vol 4 (1-2) ◽  
pp. 45
Author(s):  
Rima Irwinda ◽  
Febriansyah Darus ◽  
Peby Maulina

Women’s decision on birth mode should consider its risks and benefits, including long-term risks of caesarean among children. This study aims to present the current available evidences on the risks of caesarean towards childhood allergy and how an obstetrician could prevent this outcome through nutrition and education. We searched articles from several online databases about the link between caesarean, childhood allergy, and prenatal intervention. There were significant risks of childhood asthma and food allergy, but it was still unclear for allergic rhinitis and atopic dermatitis. Nutritional intervention could be done for pregnant women with consumption of probiotics and vitamin D supplementation. In addition, prenatal education is necessary to prepare better childhood outcomes.


2020 ◽  
Author(s):  
Lianxiang Luo ◽  
Yushi Zheng ◽  
Zhiping Lin ◽  
Xiaodi Li ◽  
Xiaoling Li ◽  
...  

Abstract Background: The role of Serine hydroxymethyltransferase2 (SHMT2) in diverse cancers has attracted increasing attention. However, the prognostic role of SHMT2 in lung adenocarcinoma (LUAD) and its relationship with immune cell infiltration is yet to be studied.Methods: The data of mRNA and clinic in LUAD were respectively downloaded from the GEO and TCGA database. We conducted a biological analysis to select the signature gene SHMT2. Online databases including Oncomine, GEPIA, TISIDB, TIMER, and HPA were applied to analyze the characterization of SHMT2 expression, prognosis and the correlation with immune infiltrates in LUAD.Results: The mRNA expression and protein expression of SHMT2 in LUAD were higher than normal tissue. A Kaplan-Meier analysis showed the lower expression level of SHMT2 had a better overall survival rate. Multivariate analysis and the Cox proportional hazard regression model revealed that SHMT2 expression was an independent prognostic factor for patients with LUAD. Meanwhile, the gene SHMT2 was highly associated with tumor-infiltrating lymphocytes in LUAD.Conclusions: These results suggest that the SHMT2 gene is a promising candidate as a potential prognostic biomarker and highly associated with different types of phenotypes of immune cell infiltration in LUAD.


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