British Journal of Biomedical

Top. 3D visualisation of SARS-CoV-2 Bottom. 3D illustration of sperm approaching the ovum

Following on from the journal’s productive 2021 publications, we see a number of changes in 2022. These include a new publisher in Frontiers, and the fact that the journal has now transferred entirely online. We have also seen the appointment of Anthony Rhodes as the new Editor of the journal. So there are lots of changes ahead as we steer into the new world of online journal publications.

In Issue 1 of 2022 let’s begin with COVID-19 infections. COVID-19 has produced a universal crisis, devastating health organisations across the globe. Genetic risk factors may be related to the infectivity and severity of the SARS-CoV-2 contagion. Angiotensin-converting enzyme 2 (ACE 2) and host transmembrane serine protease (TMPRSS2) play a key role in viral cell entrance and priming. Assessing single nucleotide polymorphisms (SNPs) on 147 health controls and 299 COVID-positive patients, Abdelsattar et al. concluded that ACE2 rs 2285666 and TMPRSS2 rs 12329760 SNPs, in addition to lymphocyte count, C-reactive protein (CRP), D-dimers, ferritin and patient hypertension, are predictors of COVID-19 disease severity.

Semen analysis and the use of andrology techniques is a growing area of laboratory investigations. In this issue the Long and Kensworthy paper provides a guide for laboratories and clinicians in its use. Rounds cells in seminal fl uid are defi ned as either lymphocytes or immature germ cells. Although publications exist that discuss the possible clinical relevance of these cells in infertility, the methods employed to diff erentiate between these two cell populations can be diffi cult for some diagnostic laboratories. The paper provides guidance on how to assess such cell populations to aid in their identifi cation and interpretation. Keeping with a cytology background, Zhai et al. discuss the impact of thyroid tissue status on the cut-off value of lymph node fi ne needle aspiration (FNA) thyroglobulin measurements in papillary thyroid cancer. Studying a reasonably large cohort, it was concluded that the infl uential factors of FNA-Tg were still controversial and the optimal cut-off value of FNA-Tg can be based on the presence or absence of thyroid tissue.

Right. Dividing cancer cell metastasis division as a disease anatomy concept

Moving on to liver disease, Neamatallah et al. assessed vitamin D derivatives (VDRs) employing SNPs to VDRs, in a substantive cohort of patients with chronic hepatic cirrhosis. It was postulated that SNPs in VDRs have a potential role to play in the outcome of patients with hepatitis C virus infection (HCV). A paper by Khalil et al. assessed the value of bile acids in diagnosing hepatitis C virus-induced liver cirrhosis in hepatocellular carcinoma (HCC). Using ultra-performance liquid chromatography, coupled with mass spectrometry, 14 bile acids were assessed in patients with non-cirrhotic posthepatitis C virus disease, cirrhotic post-hepatitis C virus disease and those with HCC, along with a control group. It was concluded that serum bile acids are associated primarily with liver cirrhosis and are not valuable in predicting progression of cirrhotic disease to HCC.

Murugan and Alzahrani assessed isocitrate dehydrogenase IDH1 and IDH2 mutations in human cancers. The study revealed that IDH1 and IDH2 are often mutated in a tissue-specifi c manner and most commonly in gliomas. The authors went on to state that these genes could be promising therapeutic targets and also strong biomarkers in gliomas.

There are also a number of papers employing techniques to study microRNAs (MiRNAs). Li et al. looked at genetic variants miR-126, -146a, -196a2 and -499 in polycystic ovary syndrome (PCOS). It was noted that all four of the miRs were strongly linked to PCOS and could be useful predictors of the disease. Jaafar et al. employed miR-27a (rs895819), miR-423 (rs6505162) and miR-124-1 (rs531564) in an assessment of 440 women (220 cases and 220 controls) to conclude that only miR-27a and miR-423 were linked to endometriosis. Finally, a paper by Hefnawy employed miR-93 and miR-152 in assessments of 160 patients with type 2 diabetic conditions, 80 of which had diabetic retinopathy (DR). It was found that both miR-93 and miR-152 could be used to diff erentiate patients with other diabetic conditions from those with DR and could, therefore, be used as potential biomarkers for DR. Whilst on the subject of DR, Keshavarz investigated the E23K polymorphism of KCNJ11 in Caucasian patients with DR. The KCNJ11 gene has a key role in insulin secretion. Looking at the rs 5219 polymorphism in an Iranian population with DR it was concluded that it was not associated with DR in type 2 diabetes mellitus patients.

Looking at indicators for cancer risk, Moghanibashi et al. report on the signifi cant association of variable number tandem repeat (VNTR) polymorphism rs 58335419 in the miR-137 gene, with the risk of both gastric and colon cancers. It was found that increasing the copy of VNTR in the miR-137 gene would increase the risk of both types of cancer and could serve as a marker for susceptibility too.

Breast cancer is a multifactorial disease whose genetic susceptibility is related to polymorphic variants of cell proliferation and migration pathways. In a study by Rosales-Reynoso et al., genotypes and haplotypes in the AXIN2 and TCF7L2 genes, which have been associated with several diff erent cancer types, were assessed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) on over 202 patients with breast cancer. The data revealed that there was a link between AXIN2 rs 2240308 and TCF7L2 rs 7903146 and rs 12255372 variants in breast cancer. Again, postulating this may be an important link in understanding pathogenesis in this disease.

We fi nish with a review by Modarage et al. on a fascinating insight into the molecular diagnostics of ciliopathies, which provide an insight into novel developments in diagnosing this rare group of diseases. Ciliopathies arise from mutations in cilia that result in abnormal formation or function. The study looks at the techniques including next-generation sequencing (NGS) in an attempt to overview the current diagnostic techniques relevant to this group of diseases and highlights the applications and limitations associated with the techniques employed.

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