EJIFCC最新文献

{"title":"The role of microRNAs in congenital heart disease.","authors":"Orsolya Nagy,&nbsp;Sándor Baráth,&nbsp;Anikó Ujfalusi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Congenital heart diseases (CHDs) are the leading inherited cause of perinatal and infant mortality. CHD refers to structural anomalies of the heart and blood vessels that arise during cardiac development and represents a broad spectrum of malformations, including septal and valve defects, lesions affecting the outflow tract and ventricules. Advanced treatment strategies have greatly improved life expectancy and led to expanded population of adult patients with CHD. Thus, a better understanding of the pathogenesis and molecular mechanisms underlying CHDs is essential to improve the diagnosis and prognosis of patients. The etiology of CHD is largely unknown, genetic and environmental factors may contribute to the disease. In addition to the mutations affecting genomic DNA, epigenetic changes are being increasingly acknowledged as key factors in the development and progression of CHDs. The posttranscriptional regulation of gene expression by microRNAs (miRs) controls the highly complex multi-cell lineage process of cardiac tissue formation. In recent years, multiplex experimental models have provided evidence that changes in expression levels of miRs are associated with human cardiovascular disease, including CHD. The newly described correlations between miRs and heart development suggest the potential importance of miRs as diagnostic markers in human cardiovascular diseases. In the future, more intensive research is likely to be carried out to clarify their contribution to personalized management and treatment of CHD patients. In this paper, we discuss the current knowledge on the causative role of miRs in cardiac development and CHDs.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 2","pages":"165-178"},"PeriodicalIF":0.0,"publicationDate":"2019-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/79/f4/ejifcc-30-165.PMC6599193.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37381443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell-free nucleic acids in prenatal diagnosis and pregnancy-associated diseases.","authors":"Bálint Nagy","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>There is a great effort to find out the biological role of cell-free nucleic acids (cfNAs). They are considered very promising targets in the diagnosis of genetic diseases. Non-invasive sampling (liquid biopsy) has recently become a very popular method, and new molecular biological techniques have been developed for these types of samples. Application of next-generation sequencing (NGS) and massively parallel sequencing (MPS) is spreading fast. These are the part of the arsenal of the modern prenatal genetic diagnostic laboratories by now. Cell-free DNA based noninvasive prenatal testing accounts for more than half of the prenatal genetic tests performed, it is gradually replacing the invasive amniocentesis or chorionic villus sample-based diagnostics. Besides that, new non-coding RNAs are taking more attention: microRNAs (miRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs) are in the focus of the clinical research to detect the most common pregnancy-associated diseases, like preeclampsia, fetal growth restriction, congenital heart diseases and gestational diabetes. The research is at advanced stage on the use of microRNAs, while lncRNAs and circRNAs are still promising targets. In this review, comprehensive information is given about the recent developments on this field.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 2","pages":"215-223"},"PeriodicalIF":0.0,"publicationDate":"2019-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dd/b8/ejifcc-30-215.PMC6599189.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37381446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of sepsis modulated circulating microRNAs.","authors":"Bernadett Szilágyi,&nbsp;Zsolt Fejes,&nbsp;Marianna Pócsi,&nbsp;Janos Kappelmayer,&nbsp;Béla Nagy","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Sepsis is a life-threating condition with dysregulated systemic host response to microbial pathogens leading to disproportionate inflammatory response and multi-organ failure. Various biomarkers are available for the diagnosis and prognosis of sepsis; however, these laboratory parameters may show limitations in these severe clinical conditions. MicroRNAs (miRNA) are single-stranded non-coding RNAs with the function of post-transcriptional gene silencing. They normally control numerous intracellular events, such as signaling cascade downstream of Toll-like receptors (TLRs) to avoid excessive inflammation after infection. In contrast, abnormal miRNA expression contributes to the development of sepsis correlating with its clinical features and outcomes. Based on recent clinical studies altered levels of circulating miRNAs can act as potential diagnostic and prognostic biomarkers in sepsis. In this review, we summarized the available data about TLR-mediated inflammatory signaling with its intracellular response in immune cells and platelets upon sepsis, which are, at least in part, under the regulation of miRNAs. Furthermore, the role of circulating miRNAs is also described as potential laboratory biomarkers in sepsis.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 2","pages":"128-145"},"PeriodicalIF":0.0,"publicationDate":"2019-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/90/59/ejifcc-30-128.PMC6599195.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37381441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MicroRNAs in endocrine tumors.","authors":"Henriett Butz,&nbsp;Attila Patócs","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>MicroRNAs (miRNAs) are small, protein noncoding RNAs that regulate gene expression post-transcriptionally. Their role is considered to set the gene expression to the optimal level, or in other words to provide \"fine tuning\" of gene expression. They regulate essential physiological processes such as differentiation, cell growth, apoptosis and their role is known in tumor development too. At tissue level differential miRNA expression in endocrine disorders including endocrine malignancies has also been reported. A new era of miRNAs-related research started when miRNAs were successfully detected outside of cells, in biofluids, in cell-free environments. Their significant role has been demonstrated in cell-cell communication in tumor biology. Due to their stability circulating miRNAs can serve as potential biomarkers. In common diseases circulating miRNAs can be potentially proposed as screening biomarkers and they are also useful to detect tumor recurrence hence they can be applied in post-surgery follow-up too. MiRNAs as diagnostic markers can also be helpful at tissue level when certain histology diagnosis is challenging. Beside diagnosis, tissue miRNAs have the potential to predict prognosis. Intensive research is carried out regarding endocrine tumors as well in terms of miRNAs. However, until now miRNAs as biomarkers do not applied in routine diagnostics, probably due to the challenging preanalytics. In this review we summarized tissue and circulating miRNAs found in thyroid, adrenal, pituitary and neuroendocrine tumors. We aimed to highlight the most important, selected miRNAs with potential diagnostic and prognostic value both in tissue and circulation. Common miRNAs across different endocrine neoplasms are summarized and miRNAs enriched at 14q31 locus are also highlighted suggesting their general role in tumorigenesis of endocrine glands.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 2","pages":"146-164"},"PeriodicalIF":0.0,"publicationDate":"2019-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/94/54/ejifcc-30-146.PMC6599198.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37381442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How close are miRNAs from clinical practice? A perspective on the diagnostic and therapeutic market.","authors":"E Bonneau,&nbsp;B Neveu,&nbsp;E Kostantin,&nbsp;G J Tsongalis,&nbsp;V De Guire","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The discovery of miRNAs in the mid-90s has changed the dogma of gene expression regulation. Currently, miRNAs are the main theme of thousands of publications each year and their involvement in human diseases is everyday more deeply understood. With that being known, what are the actual clinical applications of miRNAs and how far are they truly from the patients? To address this question, we reviewed the miRNA diagnostic and therapeutic market. With many companies developing miRNA panels, the activity is high in the diagnostic area. Some products, notably for thyroid cancer (Interpace Diagnostic), are already available to clinician and covered by major insurance companies. In comparison, the therapeutic market, mainly driven by miRNA mimics and antagomiR products, is less advanced. Miravirsen (produced by Roche/Santaris) and RG-101 (produced by Regulus Therapeutics), designed to treat hepatitis C, are considered the flagship products of this class of future drugs. All of the miRNA-based drugs are currently in clinical trials and none have yet reached the pharmaceutical breakthrough. However, acquisition of miRNA-based companies by major pharmas is sending a positive feedback on their potentials. With multiple initiatives on their way, the next years will definitely be determinant for the miRNA market that is still in his infancy.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 2","pages":"114-127"},"PeriodicalIF":0.0,"publicationDate":"2019-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/59/27/ejifcc-30-114.PMC6599191.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37382596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors Affecting Turnaround Time in the Clinical Laboratory of the Kathmandu University Hospital, Nepal.","authors":"Rajendra Dev Bhatt,&nbsp;Chandani Shrestha,&nbsp;Prabodh Risal","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>The turnaround time (TAT) as defined by most of the laboratories is the time interval between the specimens received in the laboratory to the time of reports dispatched with verification. Nearly 80% of hospital-attached clinical laboratories receive complaints about delayed TAT. Reporting in time is a crucial indicator of quality services along with accurate, precise and reliable reports, thus each clinical laboratory should identify affecting factors to eliminate them for the enhancement of quality services.</p><p><strong>Methodology: </strong>Dhulikhel Hospital-Kathmandu University Hospital is a tertiary care hospital, where this observational descriptive study was conducted in 2017. Requested tests received on database in the Department of Clinical Biochemistry Laboratory along with test requisition form (TRF) were carefully screened for any possible error. When analysis of individual patient's tests was completed, results of individual parameters were entered in the database manually. TAT was calculated as a time period between specimens received to analysis completed. Once test analysis has completed it was immediately followed by verification.</p><p><strong>Results: </strong>A total of 36,108 patients' reports generated from the Department of Clinical Biochemistry Laboratory during study period were analyzed. Nearly 36% of reports exceeded the predefined TAT in case of stat tests, while around 7% of reports were out of predefined TAT in case of routine tests. Among prolonged TAT, around 75% of reports were delayed due to various extra analytical reasons and approximately 48% of total delayed reports were found only due to error by cash unit.</p><p><strong>Conclusion: </strong>The major reasons of delayed laboratory reports were due to time consumed to fix the pre-analytical errors created by other departments rather than laboratory itself. Cash unit alone has the highest degree of error in total testing process and it is the most significant factor for prolonged TAT. However reasons for prolonged TAT may vary with hospital to hospital depending upon different factors.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 1","pages":"14-24"},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b4/5d/ejifcc-30-014.PMC6416806.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37065144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of Anemia and Associated Factors Among Hospitalized Children Attending the University of Gondar Hospital, Northwest Ethiopia.","authors":"Bamlaku Enawgaw,&nbsp;Yaregal Workineh,&nbsp;Sisay Tadesse,&nbsp;Eyuel Mekuria,&nbsp;Ayenew Addisu,&nbsp;Meaza Genetu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Anemia in children continues to be a major public health challenge in most developing countries, particularly in Africa.In the early stages of life, it leads to severe negative consequences on the cognitive functions as well as growth and development of the children, which may persist even after treatment.</p><p><strong>Objective: </strong>The main aim of this study was to assess the prevalence and associated factors of anemia among hospitalized children attending at university of Gondar comprehensive and specialized referral hospital, Northwest Ethiopia.</p><p><strong>Method: </strong>A cross sectional study was conducted on 384 hospitalized children, between February and June, 2018. Data of socio demographic characteristics and clinical conditions of the study individuals were collected using questionnaire after taking appropriate written informed consent and assent. Then 3 mL of blood was collected for complete blood count analysis and also stool examination was done for intestinal parasites. Data were coded, cleared and entered into SPSS version 20 for analysis.Bivariate and multivariate logistic regression models were used to identify associated factors of anemia. P-value ≤ 0.05 was considered as statistically significant.</p><p><strong>Result: </strong>The overall magnitude of anemia among hospitalized children was 58.6%; of them 56.4% were males. Of anemic children, 28% had mild, 51.1% moderate and 20.9% severe anemia. The magnitude of anemia among children aged 6-59 months, 5-11 years and 12-14 years were 54.1%, 58.9% and 67.5%, respectively.In this study, anemia was positively associated with parasitic infection (AOR= 2.541; 95% CI: 1.363, 4.737), not eating meat and animal products (AOR = 1.615; 95% CI: 1.014, 2.574).</p><p><strong>Conclusion: </strong>Anemia among hospitalized children in this study was found to be a severe public health problem. It was strongly associated with intestinal parasitic infection and not eating meat and animal products.Focused polices and strategies should be designed to reduce anemia among hospitalized children in Ethiopia.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 1","pages":"35-47"},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1c/9a/ejifcc-30-035.PMC6416809.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37226298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Case of Non-Secretory Multiple Myeloma: A Case Report and Literature Review.","authors":"Mohammed Bensalah,&nbsp;Somiya Lamrabat,&nbsp;Amina Lyagoubi,&nbsp;Adnane Aarab,&nbsp;Ouardia Bouayadi,&nbsp;Rachid Seddik","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Non-secretory myeloma (NSM) is a rare form of myeloma. It is defined as monoclonal plasmocytic proliferation of the bone marrow with the same clinical and radiological manifestations of myeloma. However, plasma cells are unable to secrete immunoglobulin (serum and urinary electrophoresis are negative and free light chain measurement is unquantifiable). This variant of multiple myeloma (MM) usually poses a diagnostic challenge to the biologist and clinician. We report a rare case of non-secretory myeloma in a 76-year-old patient who was diagnosed at the Mohammed V University Hospital Center in Oujda, Morocco.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 1","pages":"88-94"},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/cd/ejifcc-30-088.PMC6416810.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37226303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemolysis Interference Studies: The Particular Case of Sodium Ion.","authors":"José Antonio Delgado,&nbsp;Daniel Morell-Garcia,&nbsp;Josep Miquel Bauça","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Despite many studies assessing hemolysis interference in almost every clinically relevant magnitude, sodium has poorly been assessed. Our aim was to evaluate hemolysis interference on plasma sodium, using different strategies of hemolysis preparation, at different baseline sodium ion concentrations and bias specifications.</p><p><strong>Methods: </strong>Two different strategies were used for the preparation of hemolysis from lithium heparin blood samples. Repeatibility was calculated at two levels for each strategy and interferograms were outlined for both approaches at sodium concentrations between 130-145 mmol/L. Results were interpreted according to different specifications: reference change value, RiLiBAK, Westgard's database, RCPA-QAP and CLIA.</p><p><strong>Results: </strong>The coefficients of variation of the hemolyzed samples using the first strategy were lower than for the second strategy (0.23-0.78% vs 0.57-48.6%, for 0.2 g/dL free Hb and 0.28-0.44% vs 0.40-135.1%, for 0.9 g/dL free Hb). Statistically significant differences were seen when comparing the slopes of the pairs of interferograms at each sodium concentration obtained by both strategies (p<0.001 for 130 mmol/L; p=0.068 for 135 mmol/L; p=0.002 for 140 mmol/L and p=0.001 for 145 mmol/L). Hemolysis cut-off values were generally independent of the sodium concentration.</p><p><strong>Conclusions: </strong>Reproducibility of hemolysate preparation is procedure-dependent. A greater standardization is needed for the preparation of a true hemolysate to better quantify the degree of interference of clinically relevant analytes, especially those with higher complexity such as sodium. We found a concentration-independent cut-off value for the hemolysis index that allows the establishment of a single and robust value in every laboratory, according to their quality specifications.</p>","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 1","pages":"25-34"},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ff/a7/ejifcc-30-025.PMC6416812.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37065145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Call for Manuscript Submissions for a Thematic eJIFCC Issue on \"Improving the Preanalytical Phase in Laboratory Medicine\": Guest Editor for the \"Pre-analytical phase\" issue: Gabriel Lima-Oliveira.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":193105,"journal":{"name":"EJIFCC","volume":"30 1","pages":"5-6"},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/50/12/ejifcc-30-005.PMC6416814.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37065142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}