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Increased plasma clusterin and miR-21 in acute pancreatitis. 急性胰腺炎患者血浆聚集素和miR-21升高。
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-10-01 Epub Date: 2021-06-09 DOI: 10.1080/09674845.2021.1904691
H Li, X Yang, B Cao, J Guan
{"title":"Increased plasma clusterin and miR-21 in acute pancreatitis.","authors":"H Li, X Yang, B Cao, J Guan","doi":"10.1080/09674845.2021.1904691","DOIUrl":"https://doi.org/10.1080/09674845.2021.1904691","url":null,"abstract":"Acute pancreatitis is an inflammatory condition associated with a high complication rate and an increased risk of death. The diagnosis can be made by history, physical examination, and the results of diagnostic tests [1]. During an attack of acute pancreatitis, the elevation of alanine aminotransferase (ALT) to >150 IU/L is predictive of a biliary cause [2]. A metaanalysis indicated that this threefold elevation in ALT has a positive predictive value of 95% in diagnosing acute gallstone pancreatitis [3]. Despite the advances in investigational modalities and research techniques, the exact pathogenesis of acute pancreatitis is still unclear. Therefore, identifying the severe form early is one of the major challenges in managing severe acute pancreatitis. MiR-21, a multifunctional miRNA with inflammationrelated roles, regulates different types of inflammatory mediators and involves in the development of experimental acute pancreatitis in mice. In addition, miR-21-3p expression level correlates with the severity of the disease [4], and miR-21 deficiency protects against caeruleinor L-arginine-induced acute pancreatitis in mice. miR-21 is significantly upregulated in type 1 autoimmune pancreatitis compared to healthy adult and chronic pancreatitis. The number of miR-21-5p positive inflammatory cells was significantly elevated in acute pancreatitis [5], suggesting that miR-21-5p may be involved in the regulation of effector pathways in the pathophysiology of acute pancreatitis, thus differentiating acute pancreatitis from chronic pancreatitis. Apolipoprotein J/Clusterin is a predominantly secreted glycoprotein induced in several tissues in response to injury. It is overexpressed in the pancreas at the onset of chronic pancreatitis in vivo and in cultured acinar cells in response to various stimuli in vitro, suggesting that clusterin has a regulatory role in the exocrine pancreas [6]. Clusterin is also overexpressed in pancreatic cancer tissues and cell lines, but not in the normal pancreas. In a murine acute pancreatitis model, clusterin is overexpressed in stressed exocrine pancreas during the acute phase of pancreatitis [7], and increases dramatically with severity [8]. Whether serum clusterin levels could be used for the diagnosis of acute pancreatitis is unclear. We therefore hypothesized that levels of clusterin and miR-21 have value in the diagnosis and management of acute pancreatitis. We tested our hypothesis in 147 patients with acute pancreatitis; 92 males: mean/range 43.6 (18–86) years; 55 females: 41.6 (22–76) years were admitted to the affiliated hospital of Qingdao University within 72 hours after the onset of disease between January 2015 and October 2019. The patients were diagnosed according to the criteria of the revised Atlanta classification [1]. Before admission, all the patients had had abdominal ultrasound to exclude cholecystolithiasis and/or ductal gallstones and splenic and/or portal vein thrombosis. Blood was collected upon a","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1904691","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38970227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4. 一例骨髓衰竭综合征患者MYSM1基因的新型复合杂合突变
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-10-01 Epub Date: 2021-03-19 DOI: 10.1080/09674845.2021.1894706
X Zhan, A Zhao, B Wu, Y Yang, L Wan, P Tan, J Huang, Y Lu
{"title":"A novel compound heterozygous mutation of <i>MYSM1</i> gene in a patient with bone marrow failure syndrome 4.","authors":"X Zhan,&nbsp;A Zhao,&nbsp;B Wu,&nbsp;Y Yang,&nbsp;L Wan,&nbsp;P Tan,&nbsp;J Huang,&nbsp;Y Lu","doi":"10.1080/09674845.2021.1894706","DOIUrl":"https://doi.org/10.1080/09674845.2021.1894706","url":null,"abstract":"Myb-like swirm and MPN domains 1 (MYSM1) is a gene encoding histone H2A deubiquitinase, which can regulate the expression of transcription factor related genes and involve the immune and hematopoietic system. Homozygous and missense mutations of MYSM1 lead to immune deficiency, mainly manifested by B cell deficiency and T cell reduction. Bone marrow failure syndrome 4 (BMFS 4) is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in an increased susceptibility to infection. Here, we report a 2-month-old girl with a highly suspected BMFS due to the clinical characteristics of recurrent, severe anemia, intermittent thrombocytopenia, polydactylism, and slow growth. Whole exome sequencing identified a compound heterozygous mutation with c.1607_c.1611delAAGAG (exon 12) from the mother and c.1432C>T (exon 10) from the father in the girl. We suggest that c.1607_c.1611delAAGAG is a newly discovered pathogenic mutation. In addition, the mutation c.1432C>T (exon 10), rs748065332 is a truncated mutation (p.R478*,351), which is also reported for the first time. This case expands the phenotypic spectrum of BMSF4 and is helpful to explore the significance of BMFS4 gene detection in children with bone marrow failure syndrome.","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1894706","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25400051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Signatures for chronic obstructive pulmonary disease (COPD) and asthma: a comparative genetic analysis. 慢性阻塞性肺疾病(COPD)和哮喘的特征:比较遗传分析。
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-10-01 Epub Date: 2021-04-30 DOI: 10.1080/09674845.2021.1905988
A Sahu, S Swaroop, S Kant, M Banerjee
{"title":"Signatures for chronic obstructive pulmonary disease (COPD) and asthma: a comparative genetic analysis.","authors":"A Sahu,&nbsp;S Swaroop,&nbsp;S Kant,&nbsp;M Banerjee","doi":"10.1080/09674845.2021.1905988","DOIUrl":"https://doi.org/10.1080/09674845.2021.1905988","url":null,"abstract":"<p><p><b>Background</b>: Chronic obstructive pulmonary disease (COPD) and asthma are obstructive lung diseases which progress in severity with time. Environmental causes and genetic makeup of individuals play important roles in disease manifestation. The aim of present study was to search for diagnostic/prognostic biomarkers to differentiate COPD and asthma.<b>Materials and methods</b>: Seven <i>ADAM33</i> and two <i>AQP5</i> single-nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The association of genotypes, haplotypes and allelic combination of variants in different genes was analyzed in 194 COPD, 150 asthma patients and 220 controls.<b>Results</b>: The genotype frequencies of SNPs V4(C/G), T1(T/C), S2(G/C) of ADAM33 and AQP5 A/G (rs3736309) were associated with COPD and asthma (P=0.038 to P<0.001), while S1(A/G) and F+1(C/T) were associated with asthma (both P<0.001) and V1(G/T) with 20 COPD (P<0.001). The allele frequencies of V4(C/G) (both P<0.001), V1(G/T) (both P<0.05), S2(G/C) (both P<0.01) and S1(A/G) (both P<0.05) were associated with COPD and asthma, while F+1(C/T) was associated only with asthma (P=0.005). Haplotypes of ADAM33 'GGTGGGT' (P=0.027), 'CGTCGGC' (P<0.001) and AQP5 'GA' and 'AG' (both P<0.001) were significant only in COPD.<b>Conclusion</b>: <i>ADAM33</i> F+1(C/T) variant and allele combination 'GGTGGGTGA' may be specific markers for asthma, while AQP5 'AG' appeared as a haplotype associated only with COPD. These specific genetic biomarkers may be exploited to predict individual predisposition to COPD and asthma.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1905988","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25495802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
British Journal of Biomedical Science in 2021. What have we learned? 英国生物医学科学杂志,2021年。我们学到了什么?
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-10-01 DOI: 10.1080/09674845.2021.1982279
G Orchard, A Rhodes, N W Brown
{"title":"British Journal of Biomedical Science in 2021. What have we learned?","authors":"G Orchard,&nbsp;A Rhodes,&nbsp;N W Brown","doi":"10.1080/09674845.2021.1982279","DOIUrl":"https://doi.org/10.1080/09674845.2021.1982279","url":null,"abstract":"The British Journal of Biomedical Science in its attempts to continue to make steps forward as a leading international journal, has seen a significant rise in its impact factor (IF) rating over the past year. The IF figure for 2019 was 2.712 and for 2020 it has risen to 3.829 (Figure 1). Within the category of medical laboratory technology, the journal is now ranked 6 out of 29. These data mark a significant improvement in the academic standing of the journal as compared to many of its direct rivals. The emphasis on focussing on practice, research and education in all aspects of biomedical science and its application to the study of human disease and treatment continues to remain its primary objective. As well as focusing on the scope and full range of scientific disciplines within pathology, the journal has also made significant steps to embrace the importance of molecular techniques and how these methodologies have increased our understanding of disease processes. There is also a significant attempt to keep pace with the changing scope of molecular techniques and how their constant evolution brings an ever increasing armoury of investigative tools that can be applied across a wide spectrum of pathological entities, constantly challenging traditional discipline-specific perspectives to research and development. As seen throughout the articles published in 2021, volume 78 of the British Journal of Biomedical Science (BJBS) the molecular techniques discussed are often applied as an investigative tool to determine the clinical relevance of genes in an organism’s genome employing genetic screens. It also emphasizes the increasingly important role this technology has across all the traditional biomedical science disciplines. This approach helps us to understand how molecular genetics can be used as a powerful methodology for linking mutations to genetic sequences, may aid the search for treatments and or possible cures for various genetic based abnormalities. Many conditions and illnesses still cause considerable misery and suffering. Better laboratory diagnostics are therefore needed to provide more accurate information and lead to improved patient care – the aim being to provide for a higher quality of life for individuals with these conditions. Moreover some of the molecules and approaches described in the journal, such as analysis of micro-RNAs and single nucleotide polymorphisms (SNPs) for a range of genes, may appear esoteric to many of us working in the laboratories, where more traditional methods hold sway. The important point here is to realize the pace of change in this area and also to recognize the importance of ‘biomarker’ studies as complementary to experimental studies on cell lines and animal based studies approach in the field, thus enabling a more synergistic approach to the study of disease mechanisms and pathological processes generally (Figure 2).","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39681512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia. 白蛋白基因中一种新的无义变异(约1309年)A>T)引起白蛋白血症。
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-07-01 Epub Date: 2020-10-30 DOI: 10.1080/09674845.2020.1819632
G Caridi, A Farokhnia, F Lugani, A M de Luca, M Campagnoli, M Galliano, D Schröpfer, L Minchiotti
{"title":"A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia.","authors":"G Caridi,&nbsp;A Farokhnia,&nbsp;F Lugani,&nbsp;A M de Luca,&nbsp;M Campagnoli,&nbsp;M Galliano,&nbsp;D Schröpfer,&nbsp;L Minchiotti","doi":"10.1080/09674845.2020.1819632","DOIUrl":"https://doi.org/10.1080/09674845.2020.1819632","url":null,"abstract":"Congenital analbuminaemia (OMIM # 616,000) is a rare autosomal recessive disorder, characterized by the nearcomplete absence, or very low levels, of serum albumin. The clinical diagnosis is usually made by serum protein electrophoresis and immunonephelometry [1,2]. However, since albumin levels vary depending on the method for their quantification, and as hypoalbuminaemia may be caused by many different clinical conditions, the mutation analysis of the albumin gene is mandatory in establishing the diagnosis of congenital analbuminaemia [1,2]. The condition is relatively benign in adulthood because the compensatory increase of other plasma proteins does partly take over the functions of albumin. Most adult analbuminaemic individuals are either asymptomatic or oligosymptomatic, with moderate clinical symptoms such as mild oedema, hypotension, and fatigue [1,2]. However, almost all show hypercholesterolaemia and elevated LDL-cholesterol levels, likely increase the risk of premature atherosclerosis and cardiovascular disease, although lack of an adequate follow-up data brings difficulty in confirming this link [2–4]. Furthermore, albumin concentration is considered a remarkably strong prognostic indicator of morbidity and mortality, especially in the elderly and in hospitalized patients [2]. In contrast with the mild symptoms in adulthood, congenital analbuminaemia can have serious consequences during the prenatal period, causing miscarriages and preterm birth, and can lead to death in early childhood, mainly from fluid retention and infections of the lower respiratory tract [2,5,6]. The rarity of the trait has been attributed to the fact that only a few analbuminaemic individuals survive past the preand perinatal period [2,5,6]. A confirmation of this hypothesis is provided by a recent survey, showing that congenital analbuminaemia is the second most common direct cause of deaths in children younger than 5 years [7]. The case","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2020.1819632","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38340656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Analytical evaluation and critical appraisal of early commercial SARS-CoV-2 immunoassays for routine use in a diagnostic laboratory. 诊断实验室常规使用早期商用SARS-CoV-2免疫测定法的分析性评价和关键性评价
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-07-01 Epub Date: 2021-02-10 DOI: 10.1080/09674845.2020.1864108
A Cramer, N Goodman, T Cross, V Gant, M Dziadzio
{"title":"Analytical evaluation and critical appraisal of early commercial SARS-CoV-2 immunoassays for routine use in a diagnostic laboratory.","authors":"A Cramer,&nbsp;N Goodman,&nbsp;T Cross,&nbsp;V Gant,&nbsp;M Dziadzio","doi":"10.1080/09674845.2020.1864108","DOIUrl":"https://doi.org/10.1080/09674845.2020.1864108","url":null,"abstract":"<p><p><b>Background</b>: The objective of this study was to evaluate the performance characteristics of early commercial SARS-CoV-2 antibody assays in mild and asymptomatic subjects to enable the selection of suitable immunoassays for routine diagnostic use.<b>Methods</b>: We used serum samples from a pre-COVID era patient cohort (n = 50, pre-December 2019), designated SARS-CoV-2 negative, and serum samples from a SARS-CoV-2 RT-PCR-positive cohort (n = 90) taken > 14 days post-symptom onset (April-May 2020). Six ELISA assays were evaluated, including one confirmation assay to investigate antibody specificity. We also evaluated one point-of-care lateral flow device (LFIA) and one high throughput electrochemiluminescence immunoassay (CLIA).<b>Results</b>: The ELISA specificities ranged from 84% to 100%, with sensitivities ranging from 75.3% to 90.0%. The LFIA showed 100% specificity and 80% sensitivity using smaller sample numbers. The Roche CLIA immunoassay showed 100% specificity and 90.7% sensitivity. When used in conjunction, the Euroimmun nucleocapsid (NC) and spike-1 (S1) IgG ELISA assays had a sensitivity of 95.6%. The confirmation Dia.Pro IgG assay showed 92.6% of samples tested contained both NC and S1 antibodies, 32.7% had NC, S1 and S2 and 0% had either S1 or S2 only.<b>Conclusions</b>: The Roche assay and the Euroimmun NC and S1 assays had the best sensitivity overall. Combining the assays detecting NC and S1/S2 antibody increased diagnostic yield. These first-generation assays were not calibrated against reference material and the results were reported qualitatively. A portfolio of next-generation SARS-CoV-2 immunoassays will be necessary to investigate herd and vaccine-induced immunity.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2020.1864108","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38701263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study. XPG基因多态性与胶质瘤易感性:一项双中心病例对照研究。
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-07-01 Epub Date: 2021-02-05 DOI: 10.1080/09674845.2020.1870308
L Yuan, W M Hu, K Chen, Q Shi, A Lin, H T Chen, Z J Zhuo, L Zeng
{"title":"<i>XPG</i> gene polymorphisms and glioma susceptibility: a two-centre case-control study.","authors":"L Yuan,&nbsp;W M Hu,&nbsp;K Chen,&nbsp;Q Shi,&nbsp;A Lin,&nbsp;H T Chen,&nbsp;Z J Zhuo,&nbsp;L Zeng","doi":"10.1080/09674845.2020.1870308","DOIUrl":"https://doi.org/10.1080/09674845.2020.1870308","url":null,"abstract":"<p><p><b>Background</b>: Glioma, the most common tumour in children next to leukaemia, is difficult to treat, with a poor prognosis and high recurrence rate. Xeroderma pigmentosum group G (XPG) plays a key role in the nucleotide excision repair pathway, which may modulate individual susceptibility to developing cancer. We hypothesized links between <i>XPG</i> variants and glioma in children.<b>Methods</b>: We tested our hypothesis in a study comparing 171 glioma cases with 228 age and sex matched controls, determining <i>XPG</i> polymorphisms rs2094258 C > T, rs751402 C > T, rs2296147 T > C, rs1047768 T > C, rs873601 G > A by standard molecular genetic methods.<b>Results</b>: rs2094258 C > T was associated with a decreased glioma risk, but carrying the rs1047768 C or rs873601 A allele brought an increased risk. Subjects carrying 5 risk genotypes had a significantly increased glioma risk at an adjusted odds ratio of 1.97 (95% confidence Interval 1.26-3.08)(p = 0.003) when compared with those carrying 0-4 risk genotypes. Furthermore, children with 5 risk genotypes had a higher glioma risk when aged >60 months, were more likely to be male, and with subtypes of astrocytic tumours, and low-grade clinical stage, when compared to those with 0-4 risk genotypes. Preliminary functional exploration suggested that rs2094258 is linked with the expression of its surrounding genes in the expression quantitative trait locus analysis.<b>Conclusion</b>: Certain variants of <i>XPG</i> are risk factors for paediatric glioma, and so may be useful in early diagnosis.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2020.1870308","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38778617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Infectious Mononucleosis: diagnosis and clinical interpretation. 传染性单核细胞增多症的诊断和临床解释。
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-07-01 Epub Date: 2021-04-14 DOI: 10.1080/09674845.2021.1903683
P Naughton, M Healy, F Enright, B Lucey
{"title":"Infectious Mononucleosis: diagnosis and clinical interpretation.","authors":"P Naughton,&nbsp;M Healy,&nbsp;F Enright,&nbsp;B Lucey","doi":"10.1080/09674845.2021.1903683","DOIUrl":"https://doi.org/10.1080/09674845.2021.1903683","url":null,"abstract":"<p><p>EBV is the sole causative agent of the acute illness in humans described either as infectious mononucleosis (IM), or glandular fever. IM, when not clinically silent, can present in patients with at least two of the classic triad of symptoms of fever, pharyngitis, and lymphadenopathy. Challenges for the clinician arise when atypical cases present. Early, accurate and informed laboratory test results are vital for diagnosis, appropriate treatment, and management. A key challenge for the practitioner, particularly in cases where the illness can present atypically, is distinguishing bacterial tonsillitis infections from early acute IM. The ability to draw on timely, clear, and insightful laboratory results to distinguish viral from bacterial infection is vital. Correct and prompt diagnosis of IM can help prevent the unnecessary administration of antibiotics and mitigate the need for other expensive exploratory tests in cases of IM that present with splenomegaly, lymphadenopathy, or suspect haematological conditions. Good communication between the requesting clinician and those carrying out the investigative process, and between the different laboratory departments involved, is good practice and would ultimately benefit the patient. This communication will comprehensively review the aetiology, clinical presentation, and laboratory findings in IM with a view to promoting further research and so derive a standard diagnostic algorithm of the condition.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1903683","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25480206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 25
Homeobox A5 and A9 expression and beta-thalassemia. 同源盒A5和A9表达与-地中海贫血。
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-07-01 Epub Date: 2021-03-12 DOI: 10.1080/09674845.2021.1877926
Eae Badr, Ie-T El-Sayed, Mkr Alasadi
{"title":"Homeobox <i>A5</i> and <i>A9</i> expression and beta-thalassemia.","authors":"Eae Badr,&nbsp;Ie-T El-Sayed,&nbsp;Mkr Alasadi","doi":"10.1080/09674845.2021.1877926","DOIUrl":"https://doi.org/10.1080/09674845.2021.1877926","url":null,"abstract":"<p><p><b>Background and aim:</b> The pathogenesis of β-thalassemia has been attributed to ineffective erythropoiesis. The function of Hox genes in normal haematopoiesis has been widely studied using gene expression analysis. The aim of this study is to evaluate the expression of <i>HoxA9</i>, and <i>HoxA5</i> genes in beta-thalassemia.<b>Materials and methods:</b> Children with thalassemia major, thalassemia intermediate, and age and sex-matched healthy controls (n = 50/group) were enrolled. Detection of <i>HoxA5</i> and <i>HoxA9</i> mRNA expression was performed by real-time polymerase chain reaction (RT-PCR).<b>Results:</b> Expression of <i>HoxA9</i> increased in a direct linear trend (median 0.5 in controls, 2.4 in intermediate disease, 4.1 in major disease, p = 0.001) and generally correlated with the red cell count, haematocrit, ferritin and levels of beta-globin. In those with thalassemia major, the relative change of <i>HoxA9</i> was linked to transfusion history, the white blood cell count, ferritin, and beta-globin (all r > 0.5, p < 0.001). Levels of <i>HoxA9</i> were superior to <i>HoxA5</i> in differentiating controls from thalassemia intermedia, whilst both differentiated major from the intermediate disease.<b>Conclusion:</b> This study highlights the importance of HoxA genes in early identification of patients, at high risk of developing complications, as it allows specific measures to delay the progression of the disease. HoxA gene expression is a promising diagnostic and prognostic marker in patients with β-thalassemia.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1877926","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38831858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Haplotype-based association study of Opioid Receptor Kappa-type 1 (OPRK1) gene polymorphisms with nicotine dependence among male smokers. 男性吸烟者阿片受体kappa - 1型(OPRK1)基因多态性与尼古丁依赖的单倍型关联研究
IF 1.9 4区 医学
British Journal of Biomedical Science Pub Date : 2021-07-01 Epub Date: 2021-03-22 DOI: 10.1080/09674845.2020.1779452
A Albonaim, A Sharafshah, P Keshavarz
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引用次数: 3
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