Pub Date : 2025-05-27eCollection Date: 2025-01-01DOI: 10.3389/bjbs.2025.14489
Kamber Goksu, Ahmet Vural, Ahmet Nedim Kahraman
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.
{"title":"Carotid Body Size on CT Angiography in Patients With COVID-19 Pneumonia.","authors":"Kamber Goksu, Ahmet Vural, Ahmet Nedim Kahraman","doi":"10.3389/bjbs.2025.14489","DOIUrl":"10.3389/bjbs.2025.14489","url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 mm<sup>2</sup>, and the carotid body area of the control group was 3.7 ± 2.4 mm<sup>2</sup>. 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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"82 ","pages":"14489"},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265278","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}
Pub Date : 2025-03-28eCollection Date: 2025-01-01DOI: 10.3389/bjbs.2025.14170
Rachael M Tomb, Siobhan K McManus, David Kipgen, Sawsan Yaqub, Sally Taylor, Rory N Gunson
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.
John Cunningham (JC)病毒通常与进行性多灶性白质脑病相关。然而,这种多瘤病毒也可能是肾移植受者肾病的罕见病因。多瘤病毒相关性肾病(PVAN)很难治疗,导致移植物功能障碍和失败。我们报告一个罕见的病例JC-PVAN在一个已故的供体肾移植受者。移植后大约4年肾功能下降,患者接受活检和SV40染色。诊断为早期/轻度PVAN。BK病毒(最常与PVAN相关的病毒)的验证性PCR检测多次呈阴性。JC病毒是一种非常罕见的肾病病因,由于不在我们实验室的检测范围内,因此没有进行PCR检测。移植后大约6年,在进一步的病理检查和排除BK病毒后,通过范围外PCR检测证实JC病毒是移植物功能障碍的原因。在最初的PVAN诊断后,免疫抑制减少,但肾功能继续下降。患者在移植后8年再次进行血液透析。讨论:本文强调了实现JC病毒诊断所面临的挑战,以及临床和实验室团队之间合作的重要性,以确保适当的检测来辅助诊断。此外,我们的目标是增加JC病毒在病因不明的同种异体移植肾受者肾病的鉴别诊断中的纳入。
{"title":"JC Polyomavirus-Associated Nephropathy Case Report: Clinical and Laboratory Learning.","authors":"Rachael M Tomb, Siobhan K McManus, David Kipgen, Sawsan Yaqub, Sally Taylor, Rory N Gunson","doi":"10.3389/bjbs.2025.14170","DOIUrl":"https://doi.org/10.3389/bjbs.2025.14170","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Details: </strong>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.</p><p><strong>Discussion: </strong>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.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"82 ","pages":"14170"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11985329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143969348","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}
Pub Date : 2025-02-06eCollection Date: 2025-01-01DOI: 10.3389/bjbs.2025.14355
[This corrects the article DOI: 10.3389/bjbs.2024.13898.].
[此处更正了文章 DOI:10.3389/bjbs.2024.13898]。
{"title":"Erratum: Abnormally Low HbA<sub>1c</sub> Caused by Hemolytic Anemia, a Case Report and Literature Review.","authors":"","doi":"10.3389/bjbs.2025.14355","DOIUrl":"10.3389/bjbs.2025.14355","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.3389/bjbs.2024.13898.].</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"82 ","pages":"14355"},"PeriodicalIF":2.7,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11841675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482231","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}
Pub Date : 2025-02-05eCollection Date: 2024-01-01DOI: 10.3389/bjbs.2024.14049
Philip M Newton, Sue Jones
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.
{"title":"Education and Training Assessment and Artificial Intelligence. A Pragmatic Guide for Educators.","authors":"Philip M Newton, Sue Jones","doi":"10.3389/bjbs.2024.14049","DOIUrl":"10.3389/bjbs.2024.14049","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"81 ","pages":"14049"},"PeriodicalIF":2.7,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11837776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457081","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}
Pub Date : 2025-01-15eCollection Date: 2024-01-01DOI: 10.3389/bjbs.2024.14125
Ahmed A Khalifa
{"title":"A Letter to the Editor: The Peer Review Process: Past, Present, and Future.","authors":"Ahmed A Khalifa","doi":"10.3389/bjbs.2024.14125","DOIUrl":"https://doi.org/10.3389/bjbs.2024.14125","url":null,"abstract":"","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"81 ","pages":"14125"},"PeriodicalIF":2.7,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11774645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064080","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}
Pub Date : 2025-01-09eCollection Date: 2024-01-01DOI: 10.3389/bjbs.2024.14048
Nigel J Francis, Sue Jones, David P Smith
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.
{"title":"Generative AI in Higher Education: Balancing Innovation and Integrity.","authors":"Nigel J Francis, Sue Jones, David P Smith","doi":"10.3389/bjbs.2024.14048","DOIUrl":"10.3389/bjbs.2024.14048","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"81 ","pages":"14048"},"PeriodicalIF":2.7,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143027986","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}
Pub Date : 2025-01-07eCollection Date: 2024-01-01DOI: 10.3389/bjbs.2024.13898
Sajjad Bakhtiari, Nathan E Timbrell, Sènan M D'Almeida
Hemoglobin A1c 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 A1c 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 A1c results to ensure accurate diagnosis and effective management of diabetes.
{"title":"Abnormally Low HbA<sub>1c</sub> Caused by Hemolytic Anemia, a Case Report and Literature Review.","authors":"Sajjad Bakhtiari, Nathan E Timbrell, Sènan M D'Almeida","doi":"10.3389/bjbs.2024.13898","DOIUrl":"10.3389/bjbs.2024.13898","url":null,"abstract":"<p><p>Hemoglobin A<sub>1c</sub> 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<sub>1c</sub> 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<sub>1c</sub> results to ensure accurate diagnosis and effective management of diabetes.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"81 ","pages":"13898"},"PeriodicalIF":2.7,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000506","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}
Pub Date : 2024-12-17eCollection Date: 2024-01-01DOI: 10.3389/bjbs.2024.13437
J A Gabriel, N Weerasinghe, P Balachandran, R Salih, G E Orchard
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.
{"title":"A Narrative Review of Molecular, Immunohistochemical and In-Situ Techniques in Dermatopathology.","authors":"J A Gabriel, N Weerasinghe, P Balachandran, R Salih, G E Orchard","doi":"10.3389/bjbs.2024.13437","DOIUrl":"10.3389/bjbs.2024.13437","url":null,"abstract":"<p><p>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., <i>Mycobacterium tuberculosis</i> 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 <i>in situ</i> 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.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"81 ","pages":"13437"},"PeriodicalIF":2.7,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11687224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913588","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}
In this report, we describe a case of homozygous delta-beta (δβ) thalassaemia, a rare genetic disorder characterized by severe deficiency in delta (δ) and beta (β)-globin chain production, leading to ineffective erythropoiesis and chronic haemolytic anaemia. The patient, a 26-year-old female with δβ-thalassaemia, experienced a miscarriage. High-performance liquid chromatography revealed 89.5% foetal haemoglobin (HbF) and 14.4% glycated HbF. Sebia capillary electrophoresis showed haemoglobin peak of 97.2% and 2.8%. Kleihauer Bekte test indicated a pancellular pattern of foetal cells, while morphology analysis demonstrated microcytic, hypochromic red cells and target cells. Gene analysis confirmed compound heterozygosity for two large deletions in the β-globin gene cluster.
{"title":"Homozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report.","authors":"Hala Shokr, Mandeep Kaur Marwah, Hisam Siddiqi, Christine Wright, Sukhjinder Marwah","doi":"10.3389/bjbs.2024.13663","DOIUrl":"10.3389/bjbs.2024.13663","url":null,"abstract":"<p><p>In this report, we describe a case of homozygous delta-beta (δβ) thalassaemia, a rare genetic disorder characterized by severe deficiency in delta (δ) and beta (β)-globin chain production, leading to ineffective erythropoiesis and chronic haemolytic anaemia. The patient, a 26-year-old female with δβ-thalassaemia, experienced a miscarriage. High-performance liquid chromatography revealed 89.5% foetal haemoglobin (HbF) and 14.4% glycated HbF. Sebia capillary electrophoresis showed haemoglobin peak of 97.2% and 2.8%. Kleihauer Bekte test indicated a pancellular pattern of foetal cells, while morphology analysis demonstrated microcytic, hypochromic red cells and target cells. Gene analysis confirmed compound heterozygosity for two large deletions in the β-globin gene cluster.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"81 ","pages":"13663"},"PeriodicalIF":2.7,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11617142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784125","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}
Pub Date : 2024-11-18eCollection Date: 2024-01-01DOI: 10.3389/bjbs.2024.13707
Mohamad Anas Al Tahan, Sana Al Tahan
Mitochondria, known as the cell's powerhouse, play a critical role in energy production, cellular maintenance, and stemness regulation in non-cancerous cells. Despite their importance, using drug delivery systems to target the mitochondria presents significant challenges due to several barriers, including cellular uptake limitations, enzymatic degradation, and the mitochondrial membranes themselves. Additionally, barriers in the organs to be targetted, along with extracellular barriers formed by physiological processes such as the reticuloendothelial system, contribute to the rapid elimination of nanoparticles designed for mitochondrial-based drug delivery. Overcoming these challenges has led to the development of various strategies, such as molecular targeting using cell-penetrating peptides, genomic editing, and nanoparticle-based systems, including porous carriers, liposomes, micelles, and Mito-Porters. Porous carriers stand out as particularly promising candidates as drug delivery systems for targeting the mitochondria due to their large pore size, surface area, and ease of functionalisation. Depending on the pore size, they can be classified as micro-, meso-, or macroporous and are either ordered or non-ordered based on both size and pore uniformity. Several methods are employed to target the mitochondria using porous carriers, such as surface modifications with polyethylene glycol (PEG), incorporation of targeting ligands like triphenylphosphonium, and capping the pores with gold nanoparticles or chitosan to enable controlled and triggered drug delivery. Photodynamic therapy is another approach, where drug-loaded porous carriers generate reactive oxygen species (ROS) to enhance mitochondrial targeting. Further advancements have been made in the form of functionalised porous silica and carbon nanoparticles, which have demonstrated potential for effective drug delivery to mitochondria. This review highlights the various approaches that utilise porous carriers, specifically focusing on silica-based systems, as efficient vehicles for targeting mitochondria, paving the way for improved drug delivery strategies in mitochondrial therapies.
{"title":"Pioneering Advances and Innovative Applications of Mesoporous Carriers for Mitochondria-Targeted Therapeutics.","authors":"Mohamad Anas Al Tahan, Sana Al Tahan","doi":"10.3389/bjbs.2024.13707","DOIUrl":"10.3389/bjbs.2024.13707","url":null,"abstract":"<p><p>Mitochondria, known as the cell's powerhouse, play a critical role in energy production, cellular maintenance, and stemness regulation in non-cancerous cells. Despite their importance, using drug delivery systems to target the mitochondria presents significant challenges due to several barriers, including cellular uptake limitations, enzymatic degradation, and the mitochondrial membranes themselves. Additionally, barriers in the organs to be targetted, along with extracellular barriers formed by physiological processes such as the reticuloendothelial system, contribute to the rapid elimination of nanoparticles designed for mitochondrial-based drug delivery. Overcoming these challenges has led to the development of various strategies, such as molecular targeting using cell-penetrating peptides, genomic editing, and nanoparticle-based systems, including porous carriers, liposomes, micelles, and Mito-Porters. Porous carriers stand out as particularly promising candidates as drug delivery systems for targeting the mitochondria due to their large pore size, surface area, and ease of functionalisation. Depending on the pore size, they can be classified as micro-, meso-, or macroporous and are either ordered or non-ordered based on both size and pore uniformity. Several methods are employed to target the mitochondria using porous carriers, such as surface modifications with polyethylene glycol (PEG), incorporation of targeting ligands like triphenylphosphonium, and capping the pores with gold nanoparticles or chitosan to enable controlled and triggered drug delivery. Photodynamic therapy is another approach, where drug-loaded porous carriers generate reactive oxygen species (ROS) to enhance mitochondrial targeting. Further advancements have been made in the form of functionalised porous silica and carbon nanoparticles, which have demonstrated potential for effective drug delivery to mitochondria. This review highlights the various approaches that utilise porous carriers, specifically focusing on silica-based systems, as efficient vehicles for targeting mitochondria, paving the way for improved drug delivery strategies in mitochondrial therapies.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"81 ","pages":"13707"},"PeriodicalIF":2.7,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11608979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142766322","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}