British Journal of Biomedical Science最新文献

Introduction: The β-thalassemias are inherited genetic disorders affecting the hematopoietic system and caused by mutations of the adult β-globin gene, leading to low or absent production of adult hemoglobin. In addition, an excess of free α-globin is associated with ineffective erythropoiesis. In fact, the free α-globin molecules are prone to precipitate, causing toxicity to the erythroid cells, and interference with red cell maturation. In order to counteract the detrimental effects of the excess of α-globin, two pathways might be activated in β-thalassemia erythroid cells, i.e. Unc-51-like kinase 1 (Ulk-1)-mediated induction of autophagy and increased expression of the α-hemoglobin stabilizing protein (AHSP).

Case presentation: The studied case was a male transfusion dependent TM (Thalassemia Major) patient, aged 43 years, with a β⁰39/β⁺IVSI-110 genotype (XmnI polymorphism: -/-), starting the first blood transfusion when he was 5 months old, and participating to the NCT03877809 (Sirthalaclin) clinical trial.

Methods: Expression of AHSP and Ulk-genes in Erythroid precursor cells (ErPCs) was studied by Reverse transcription (RT)-qPCR and Western blotting ErPCs were isolated from the propositus after 90 and 180 days of treatment with sirolimus.

Results and discussion: This study demonstrates for the first time that increase in the production of γ-globin2 mRNA and HbF in ErPCs from a patient with β-thalassemia treated with sirolimus might be associated with co-induction of Ulk-1 and AHSP genes.

Purpose: Many pathophysiological theories have been expressed regarding increased sympathetic activity along with respiratory failure in patients with COVID-19 pneumonia. In addition, the carotid bodies, which are directly related to increased blood oxygen levels and sympathetic activity, are known to be very rich in the angiotensin-converting enzyme 2 (ACE2) receptor, which the COVID-19 causative virus uses to enter the cell. Therefore, the probability of carotid bodies being affected in patients with COVID-19 pneumonia is quite high. Carotid bodies can be visualized with contrast-enhanced CT angiography (CTA), and we aimed to visualize possible carotid body enlargement in COVID-19 patients with CTA.

Methods: We retrospectively evaluated patients who were hospitalized for COVID-19 pneumonia during the pandemic in our hospital and who had CTA examinations at least 3 months after treatment. We drew a Region of Interest (ROI) from the periphery of both carotid bodies and measured the area from the widest part. Similarly, measurements were taken in the control group without a history of COVID-19, and the results of the two groups were compared statistically.

Results: We performed measurements on CTA images of 104 control subjects and 108 patients. The total carotid body area of the patients with COVID-19 pneumonia was 4.9 ± 3.7 mm², and the carotid body area of the control group was 3.7 ± 2.4 mm². In comparing the two groups, the carotid body area was found to be statistically significantly larger (p < 0.05) in patients with COVID-19 pneumonia.

Conclusion: The size of the carotid body was found to be larger in patients with COVID-19 pneumonia compared to the control group. This finding may indicate conditions that lead to the activation of carotid body chemo and baroreceptors, such as increased sympathetic activity and a decrease in blood oxygen pressure in patients with COVID-19 pneumonia. Apart from this, it may also be possible for the carotid body to be directly infected with the virus. More specific studies that shed light on this aspect are needed.

Introduction: John Cunningham (JC) virus is commonly associated with progressive multifocal leukoencephalopathy. However, this polyomavirus can also be a rare etiological agent of nephropathy in renal transplant recipients. Polyomavirus-associated nephropathy (PVAN) can be difficult to treat, resulting in graft dysfunction and failure.

Details: We report a rare case of JC-PVAN in a deceased donor kidney transplant recipient. Following a decline in renal function approximately 4 years post-transplant, the patient underwent biopsy and SV40 staining. A diagnosis of early/mild PVAN was made. Confirmatory PCR testing for BK virus, the virus most commonly associated with PVAN, was repeatedly negative. PCR for JC virus, a much rarer cause of nephropathy, was not performed as testing was not within our laboratory testing scope. Approximately 6 years post-transplant, following further pathological examination and exclusion of BK virus, JC virus was confirmed as the cause of graft dysfunction via off-scope PCR testing. Reductions in immunosuppression were implemented following the initial PVAN diagnosis, however, decline in renal function continued. The patient returned to haemodialysis 8 years post-transplant.

Discussion: This paper highlights the challenges faced achieving the diagnosis of JC virus and importance of collaboration between clinical and laboratory teams to ensure appropriate testing to aid diagnosis. In addition, we aim to increase the inclusion of JC virus in the differential diagnosis in cases of nephropathy in allograft recipients with unclear aetiology.

[This corrects the article DOI: 10.3389/bjbs.2024.13898.].

The emergence of ChatGPT and similar new Generative AI tools has created concern about the validity of many current assessment methods in higher education, since learners might use these tools to complete those assessments. Here we review the current evidence on this issue and show that for assessments like essays and multiple-choice exams, these concerns are legitimate: ChatGPT can complete them to a very high standard, quickly and cheaply. We consider how to assess learning in alternative ways, and the importance of retaining assessments of foundational core knowledge. This evidence is considered from the perspective of current professional regulations covering the professional registration of Biomedical Scientists and their Health and Care Professions Council (HCPC) approved education providers, although it should be broadly relevant across higher education.

Generative Artificial Intelligence (GenAI) is rapidly transforming the landscape of higher education, offering novel opportunities for personalised learning and innovative assessment methods. This paper explores the dual-edged nature of GenAI's integration into educational practices, focusing on both its potential to enhance student engagement and learning outcomes and the significant challenges it poses to academic integrity and equity. Through a comprehensive review of current literature, we examine the implications of GenAI on assessment practices, highlighting the need for robust ethical frameworks to guide its use. Our analysis is framed within pedagogical theories, including social constructivism and competency-based learning, highlighting the importance of balancing human expertise and AI capabilities. We also address broader ethical concerns associated with GenAI, such as the risks of bias, the digital divide, and the environmental impact of AI technologies. This paper argues that while GenAI can provide substantial benefits in terms of automation and efficiency, its integration must be managed with care to avoid undermining the authenticity of student work and exacerbating existing inequalities. Finally, we propose a set of recommendations for educational institutions, including developing GenAI literacy programmes, revising assessment designs to incorporate critical thinking and creativity, and establishing transparent policies that ensure fairness and accountability in GenAI use. By fostering a responsible approach to GenAI, higher education can harness its potential while safeguarding the core values of academic integrity and inclusive education.

Hemoglobin A_1c is a widely used diagnostic tool for monitoring glycemic control in diabetes management. However, its accuracy can be influenced by various factors. We present a case of a 17-year-old boy with abnormally low Hemoglobin A_1c levels caused by warm autoantibody-induced hemolytic anemia. This case highlights the importance of considering conditions that may affect erythrocyte survival, and the potential interferences when interpreting Hemoglobin A_1c results to ensure accurate diagnosis and effective management of diabetes.

Skin disorders pose a significant health burden globally, affecting millions of individuals across diverse demographics. Advancements in molecular techniques have revolutionised our understanding of the underlying mechanisms of skin disorders, offering insights into their pathogenesis, diagnosis, and potential targeted treatment. Furthermore, the integration of molecular diagnostics into clinical practice has enhanced the accuracy of skin disorder diagnoses. Polymerase chain reaction (PCR), next-generation sequencing (NGS), and other molecular assays have allowed for the detection of infectious agents, assessment of genetic mutations, and profile gene expression patterns with unequalled precision. These techniques have proven instrumental in distinguishing between subtypes of skin cancers, aiding treatment strategies and prognostic assessments. Moreover, molecular profiling is increasingly guiding the selection of therapeutic agents, ensuring a personalised and effective approach to managing skin disorders. The application of PCR has revolutionised the field by enabling the identification of microbial DNA (i.e., Mycobacterium tuberculosis and Epstein-Barr Virus) in skin infections and detecting specific genetic mutations associated with dermatological disorders (e.g., BRAF). DNA sequencing technologies, such as next-generation sequencing, have facilitated the elucidation of genetic variations and mutations in skin diseases (i.e., bullous disorders), paving the way for personalised treatment approaches. Gene expression profiling techniques, such as microarrays and RNA sequencing, have provided insights into dysregulated pathways and molecular signatures associated with conditions ranging from inflammatory skin disorders to cutaneous malignancies. Immunohistochemistry and fluorescence in situ hybridization have proven invaluable in determining protein expression patterns and detecting chromosomal abnormalities, respectively, aiding in the characterization of skin lesions in conjunction with the molecular data. Proteomic studies have contributed to understanding the intricate protein networks involved in dermatological conditions (i.e., psoriasis), while epigenetic analyses have shed light on the role of epigenetic modifications in gene regulation within skin cancer (i.e., Malignant Melanoma). Together, these molecular techniques have laid the groundwork for targeted therapies and precision medicine in dermatology, with implications for improved diagnostics and treatment outcomes. This review focuses on the routinely employed molecular techniques within dermatopathology, with a focus on cutaneous malignancies, autoimmune diseases, infectious diseases, and neonatal screening which can be implemented in the diagnosis and contribute to improved patient care.