British Journal of Biomedical Science最新文献

{"title":"<i>DACT1</i> variants and colorectal cancer.","authors":"M Ghasemian,&nbsp;M Rajabibazl,&nbsp;H Sadeghi,&nbsp;R Mirfakhraie","doi":"10.1080/09674845.2021.1914919","DOIUrl":"https://doi.org/10.1080/09674845.2021.1914919","url":null,"abstract":"According to GLOBOCAN, colorectal cancer is the third most frequent cancer and the second most common cause of cancer death worldwide [1]. Several risk factors, such as advanced age, family history of cancer, sex, alcohol, red meat, genetic, and epigenetic, mainly contribute to CRC prevalence [2]. Wnt/β-catenin is one of the most common pathways activated in many cancers and plays a key role in cell proliferation, apoptosis, Ca homoeostasis, and differentiation [3]. The aberrant activation of the Wnt/β-catenin pathway is responsible for more than 90% of colorectal cancer cases [4]. The DACT family proteins (Dapper Antagonist of Catenin) consist of three members: DACT1, DACT2, and DACT3 [5]. DACT1 (also known as Dapper1/Dpr1) negatively regulates the Wnt/β-catenin pathway by interacting with Dishevelled (Dvl), a key mediator of Wnt signalling, and promoting its lysosomal degradation; therefore, DACT1 can act as a potential tumour-suppressor gene [6]. Given the role of DACT1 in Wnt pathway regulation and colorectal cancer pathogenesis, it is possible the DACT1 single nucleotide polymorphisms (SNPs) may contribute to the risk of developing colorectal cancer. Huang et al. have shown that different genotypes of rs863091 affect the expression of DACT1 in gastric cancer [7]. However, the association of genetic variations in the DACT1 with colorectal cancer is unknown. We therefore hypothesized links between DACT1 rs863091 and rs11541 SNPs with colorectal cancer. We tested our hypothesis with 221 cases of colorectal cancer (118 males and 103 females, mean/SD age 49.5 ± 12.2) and 186 cancer-free controls (82 males and 104 females, 48.4 ± 12.9: sex and age differences p = 0.061 and p = 0.406, respectively). All subjects were selected from referrals to Taleghani Hospital, Tehran, Iran, between 2006 and 2015. All patients were diagnosed and confirmed based on histopathological tests, clinical examination, and colonoscopy on isolated biopsies. Noncancerous individuals were randomly taken from the people who visited the hospital for a routine check-up with no malignancy. Patients with a history of malignancies (self-reported history), radiotherapy, and previous chemotherapy treatment were excluded. The Ethics Committee of Shahid Beheshti University of Medical Sciences approved the current research) Code: IR. SBMU. MSP.REC.1397.632. All cases and controls in this project provided written informed consent. The genotype data for DACT1 rs863091 and rs11541 was obtained according to UCSC Genome Browser (https://genome.ucsc.edu/) and dbSNP (https://www. ncbi.nlm.nih.gov/projects/) databases. The DACT1 rs863091 and rs11541 variants are located in the coding exon 4 and 3-UTR of the DACT1 gene, respectively. We used several online databases, such as HaploReg v4.1 (https://pubs.broadinstitute.org/mammals/haploreg/hap loreg.php) and mirSNP (http://bioinfo.bjmu.edu.cn/ mirsnp/search/), to predict the potential functional characteristics of these SNPs. Five 5 ml peripheral","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"221-224"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1914919","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25581229","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}

{"title":"Fungal vaccines.","authors":"H T Pattison,&nbsp;B C Millar,&nbsp;J E Moore","doi":"10.1080/09674845.2021.1907953","DOIUrl":"https://doi.org/10.1080/09674845.2021.1907953","url":null,"abstract":"<p><p>Invasive fungal disease continues to be a cause of significant life-threatening morbidity and mortality in humans, particularly in those with a diminished immune system, such as with haematological malignancies. The mainstay of treating such life-threatening fungal infection has been antifungal drugs, including azoles, echinocandins and macrocyclic polyenes. However, like antibiotic resistance, antifungal resistance is beginning to emerge, potentially jeopardizing the effectiveness of these molecules in the treatment of fungal disease. One strategy to avoid this is the development of fungal vaccines. However, the inability to provoke a sufficient immune response in the most vulnerable immunocompromised groups has hindered translation from bench to bedside. This review will assess the latest available data and will investigate potential <i>Aspergillus</i> antigens and feasible vaccine techniques, particularly for vaccination of high-risk groups, including immunocompromised and immunosuppressed populations.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"167-176"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1907953","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25505064","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}

{"title":"Management of mixed acute rejection driven by a <i>de novo</i> donor-specific complement-binding anti-DQB1*03:01 antibody and intraepithelial CD8 T-cells in a kidney recipient: a case report.","authors":"F Boix,&nbsp;J Feito,&nbsp;A Rodríguez-Campón,&nbsp;M C Chillón,&nbsp;S García-Sánchez,&nbsp;G Tabernero,&nbsp;P Fraile,&nbsp;R García-Sanz","doi":"10.1080/09674845.2021.1927308","DOIUrl":"https://doi.org/10.1080/09674845.2021.1927308","url":null,"abstract":"<p><p>Mixed acute rejection is a clinicopathological entity that is difficult to accurately diagnose, and so may be under-reported. Allografts are lost more often than in either humoral or cellular rejection. The diagnosis requires both histological and immunological studies on renal biopsy and blood specimens from the transplant recipient to provide the required rescue therapy to abolish the allogeneic response against the graft. We present a clinical case report of an active mixed acute rejection driven by a <i>de novo</i> donor-specific complement-binding anti-DQB1*03:01 antibody and intraepithelial CD8 T-cells in a patient with a kidney transplant. The patient was diagnosed, treated, and followed up as per the local institution's procedure with a full recovery of graft function. Our case emphasises the challenge of a mixed acute rejection and supports the need to improve the post-transplant outcome of recipients and their grafts.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"244-247"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1927308","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39076059","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}

{"title":"TIMP1 and TIMP3 circulating levels and promoter polymorphisms in breast cancer.","authors":"S Balkhi,&nbsp;F Mashayekhi,&nbsp;A Salehzadeh,&nbsp;H Saeidi Saedi","doi":"10.1080/09674845.2021.1914920","DOIUrl":"https://doi.org/10.1080/09674845.2021.1914920","url":null,"abstract":"BACKGROUND\u0000Tissue inhibitors of metalloproteinases (TIMPs) are key regulators of the metalloproteinases that have important roles in different processes including extracellular matrix degradation and tissue remodeling. In this research, we studied the correlation between TIMP1 (rs4898) and TIMP3 (rs9619311) gene variations and their circulating levels with the risk of breast cancer among 100 case-control samples.\u0000\u0000\u0000METHODS\u0000The polymorphisms were genotyped by PCR-based Restriction Fragment Length Polymorphism (RFLP). The serum level was analyzed by enzyme-linked immunosorbent assay (ELISA).\u0000\u0000\u0000RESULTS\u0000The distribution of C/C, C/T and T/T genotypes for TIMP1 were 25%, 46% and 29% in patients and 26%, 39% and 35% in controls, respectively (P=0.56). Moreover, TIMP3 distribution of C/C, C/T and T/T genotypes were 18%, 43% and 39% in patients and 22%, 37% and 41% in controls, respectively (P=0.63). Besides, the results of serum levels showed higher expression of TIMP1 in controls and TIMP3 in breast cancer patients. TIMP1 serum levels in patients and controls were 96±17 ng/ml and 127±20 ng/ml, respectively (P=0.008), and TIMP3 serum levels in patients was increased (44±7 ng/ml) as compared to controls (31±6 ng/ml) (P=0.004).\u0000\u0000\u0000CONCLUSION\u0000It is concluded that TIMP1 (rs4898) and TIMP3 (rs9619311) polymorphisms are not significantly related to breast cancer. Moreover, CC and TT genotypes are correlated with increased serum TIMP1 and TIMP3 levels in breast cancer patients, respectively. It is also suggested that serum concentration of TIMP1 and TIMP3 is related to the physiopathology of breast cancer.","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"236-238"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1914920","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25570847","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}

{"title":"Targeted metabolomics as a tool for the diagnosis of kidney disease in Type II diabetes mellitus.","authors":"S Abdelsattar,&nbsp;Z A Kasemy,&nbsp;M Elsayed,&nbsp;T A Elrahem,&nbsp;S K Zewain","doi":"10.1080/09674845.2021.1894705","DOIUrl":"https://doi.org/10.1080/09674845.2021.1894705","url":null,"abstract":"<p><p><b>Background</b>: Diabetic kidney disease (DKD) is an increasing health problem and an extra burden to health services. The study of characteristic metabolic alterations of DKD is crucial for a better understanding of pathogenesis to identify new potential biomarkers and drug targets. We hypothesized that metabolic profiling of amino acids, acylcarnitines, and organic acids are useful new biomarkers for the diagnosis of the early stages of DKD<b>Methods:</b> The hypothesis was testing in a case-control study of 232 patients with type 2 diabetes mellitus and 150 healthy controls. Patients were classified according to urinary albumin and estimated glomerular filtration rate (eGFR) into 100 with normoalbuminuria and 132 with microalbuminuria group. Eighteen AcylCNs and 17 amino acids were measured in the blood by tandem mass spectrometry while 17 urinary organic acids were quantitatively measured by gas chromatography - mass spectrometry.<b>Results:</b> Regression analysis found that dodecanoylcarnitines C12 (effect size 2.03 [95%CI 1.73-2.32]), triglylcarnitine C5:1 (2.01 [1.70-2.30]), and isovalerylcarnitine C5 (1.78 [1.48-2.07]) were stronger predictors of albumin/creatinine ratio than HbA1c (1.50 [1.20-1.78]) and hence they could serve as potential biomarkers for the diagnosis of the early stages of DKD.<b>Conclusions:</b> Targeted metabolic profiling offers a new, non-invasive approach for detecting biomarkers for the early diagnosis of DKD suggesting new pathogenetic phases that might be new targets for treatment.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"184-190"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1894705","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25433277","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}

{"title":"Increased plasma clusterin and miR-21 in acute pancreatitis.","authors":"H Li,&nbsp;X Yang,&nbsp;B Cao,&nbsp;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 &gt;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":"78 4","pages":"229-232"},"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}

{"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":"78 4","pages":"177-183"},"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}

{"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":"78 4","pages":"159-166"},"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}

{"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":"78 4","pages":"239-243"},"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}

{"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":"78 3","pages":"154-157"},"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}