Critical role of diagnostic SARS-CoV-2 T cell assays for immunodeficient patients
After almost 3 years of intense study, the immunological basis of COVID-19 is better understood. Patients who suffer severe disease have a chaotic, destructive immune response. Many patients with severe COVID-19 produce high titres of non-neutralising antibodies, which are unable to sterilise the infection. In contrast, there is increasing evidence that a rapid, balanced cellular immune response is required to eliminate the virus and mitigate disease severity. In the longer term, memory T cell responses, following infection or vaccination, play a critical role in protection against SARS-CoV-2.
Given the pivotal role of cel...
Source: Journal of Clinical Pathology - November 17, 2022 Category: Pathology Authors: Ameratunga, R., Woon, S.-T., Steele, R., Lehnert, K., Leung, E., Brooks, A. E. S. Tags: Viewpoint Source Type: research
Ultra-rare Hb Regina (HBB:c.289C>G) with coinherited {beta}-thalassaemia trait: solving the puzzle for extreme erythrocytosis
High oxygen-affinity haemoglobins (Hb) are among the earliest recognised molecular defects in patients with inherited forms of erythrocytosis, and several α-globin and β-globin chain variants have been reported.1 2 Their diagnostic workup typically involves SpO2 and erythropoietin measurement to distinguish primary from secondary erythrocytosis, followed by exclusion of acquired causes, and subsequently, phenotypic tests like high-performance liquid chromatography (HPLC), isoelectric focusing, capillary electrophoresis, and alkaline pH electrophoresis and demonstration of a low p50 on an oxygen-saturation curve....
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Mallik, N., Jamwal, M., Sharma, R., Singh, N., Sharma, P., Bansal, D., Trehan, A., Chhabra, S., Das, R. Tags: PostScript Source Type: research
Associations between renal deposits of complement factors, disease activity and loss of renal function in lupus nephritis
Although deposits of complement factors in a kidney biopsy are typical of lupus nephritis, their prognostic relevance had never been investigated until a year ago. Then, around the same time, Kim and colleagues published a study in which deposits were associated with loss of renal function,1 while we published a similar study that reported no such association.2 Here, we explore possible explanations for these seemingly conflicting findings. Both studies assumed that deposits of C1q with or without C3 in glomeruli reflect activation of the classical pathway and that deposits of C3 without C1q in glomeruli reflect activation...
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Koopman, J. J. E., Rennke, H. G., McMahon, G. M., Waikar, S. S., Costenbader, K. H. Tags: PostScript Source Type: research
Measurement of C1-Inhibitor function alone is sufficient for diagnosis of hereditary angioedema
The World Allergy Organisiation/European Academy of Allergy and Clinical Immunology (WAO/EAACI) 2017/2018 guidelines recommend measuring complement4 levels, followed by C1-inhibitor level and function for diagnosis of hereditary angioedema (HAE). We analysed 6 months’ worth of data generated in our laboratory which is a specialist regional immunology service and also provides laboratory service for the Barts Health immunology department, which is a GA2LEN/HAEi-Angioedema Centre of Excellence and Reference (ACARE) and hence, investigates a large number of patients for HAE. We found that an efficient and sensitive appr...
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Kiani-Alikhan, S., Walker, E., Hickey, A., Grigoriadou, S., Buckland, M., Scott, C. Tags: Short report Source Type: research
Antibody response and self-reported adverse reactions following vaccination with Comirnaty: a pilot study from a Croatian university hospital
This study aimed to determine antibody responses against SARS-CoV-2 spike (S) after both BioNTech–Pfizer Comirnaty vaccine doses and study the correlation with self-perceived adverse reactions. Antibodies determination with Elecsys anti-SARS-CoV-2 S assay was performed a day prior to or just before administration of the second dose and 8–13 days after the second dose. Participants selected from a predefined list of the experienced local (injection site reactions) and/or systemic (fatigue, headache, myalgia, arthralgia, chills and fever) post-vaccination adverse reactions. An average 100-fold increase in antibod...
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Lapic, I., Rogic, D., Segulja, D., Zaninovic, L. Tags: COVID-19 Short report Source Type: research
Clinicopathological characteristics and genetic variations of uterine tumours resembling ovarian sex cord tumours
Conclusion
UTROSCT is a rare mesenchymal tumour, and biopsy specimens are easily misdiagnosed. UTROSCT diagnosis requires the combined use of biomarkers and molecular detection. BCL-2 has potential diagnostic value as a marker. UTROSCT can have mutations related to the HRR pathway, suggesting that this tumour type may be sensitive to platinum/poly (ADP-ribose) polymerase inhibitors. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Ye, S., Wu, J., Yao, L., He, J. Tags: Open access Original research Source Type: research
Low-grade oncocytic tumour expands the spectrum of renal oncocytic tumours and deserves separate classification: a review of 23 cases from a single tertiary institute
Conclusions
LOT is a clinically indolent and potentially benign entity with distinguishable morphology and immunohistochemical profile that can be performed and be easily interpreted in most of surgical pathology settings. Additional studies with larger cohorts, comprehensive molecular evaluation and longer follow-up are needed to definitively recognise these tumours as a separate entity and to further address the possibility of active surveillance options in eligible patients. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Akgul, M., Al-Obaidy, K. I., Cheng, L., Idrees, M. T. Tags: Original research Source Type: research
Three-antibody classifier for muscle invasive urothelial carcinoma and its correlation with p53 expression
Conclusions
This retrospective study demonstrates the potential utility of a three-antibody immunohistochemistry panel to differentiate luminal and basal MIBC. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Olkhov-Mitsel, E., Hodgson, A., Liu, S. K., Vesprini, D., Xu, B., Downes, M. R. Tags: Original research Source Type: research
PAX6 is frequently expressed in ependymal tumours and associated with prognostic relevant subgroups
Conclusions
We demonstrate that PAX6 is frequently expressed in human ependymal tumours and immunohistochemistry may be helpful in determining prognostic relevant subgroups. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Tabasaran, J., Schuhmann, M., Ebinger, M., Honegger, J., Renovanz, M., Schittenhelm, J. Tags: Open access Original research Source Type: research
Abnormal umbilical cord insertions in singleton deliveries: placental histology and neonatal outcomes
Conclusions
Subchorionic vessel thrombus and adverse pregnancy-related outcomes were more prevalent in cases of marginal/membranous cord insertion than for normal insertions. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Visentin, S., Londero, A. P., Santoro, L., Pizzi, S., Andolfatto, M., Venturini, M., Saraggi, D., Coati, I., Sacchi, D., Rugge, M., Cosmi, E. Tags: Original research Source Type: research
Homocystinuria diagnosis and management: it is not all classical
Homocystinuria (HCU) refers to a group of inherited disorders of homocysteine metabolism associated with high blood homocysteine concentration, thromboembolic tendency and neurocognitive symptoms. The most common causes of a high blood homocysteine relate to underlying vitamin B12 or folate deficiency which must be excluded first. Thereafter, an inherited metabolic condition can be considered.
The most prevalent inherited disorder of homocysteine metabolism is classical HCU caused by deficiency of the pyridoxine-dependent enzyme, cystathione beta-synthase, which converts homocysteine to cystathionine in the transsulphurati...
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Gerrard, A., Dawson, C. Tags: Editor's choice, Best practice Source Type: research
Comparison of laboratory methods for the detection of neoplastic plasma cells in plasma cell dyscrasias
Conclusions
While CD138+sorted FISH is primarily used for prognostication, it may be employed as a single test for detection and monitoring clonality in certain scenarios. Further studies are needed to monitor the outcomes of patients with positive FISH and negative IHC and MFC. Additionally, there was high agreement between IHC and MFC, suggesting that performing both tests may not be necessary. (Source: Journal of Clinical Pathology)
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Dietz, R., Lollie, T. K., Goh, T., Rao, N., Pullarkat, S. Tags: Best practice Source Type: research
Molecular classification of endometrial carcinoma: a clinically oriented review
The Cancer Genome Atlas research network performed a genome-wide analysis of endometrial carcinomas in 2013 and classified tumours into four distinct subgroups: polymerase- ultramutated, microsatellite unstable hypermutated, copy-number low and copy-number high. These molecular alterations are mostly mutually exclusive as only about 3% of tumours exhibit more than one molecular signature. Apart from the polymerase- ultramutated subgroup, molecular classification can be reproduced by using surrogate markers. This has facilitated the implementation of molecular diagnostics into routine patient care. Molecular subgroups are a...
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Loukovaara, M., Pasanen, A., Bützow, R. Tags: Review Source Type: research
Mitochondrial-derived peptides as a novel intervention for obesity and cardiac diseases: bench evidence for potential bedside application
Currently, obesity is the most common major health problem for people worldwide. Obesity is known to be a significant risk factor for several diseases, including metabolic syndrome, insulin resistance and type 2 diabetes, eventually leading to the development of chronic systemic disorders. Previous studies showed that mitochondrial dysfunction could be one of the potential mechanisms for obesity progression. Most interventions used for combating obesity have also been reported to modulate mitochondrial function, suggesting the potential role of mitochondria in the pathology of the obese condition. Recent studies have shown...
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Kaorop, W., Maneechote, C., Kumfu, S., Chattipakorn, S. C., Chattipakorn, N. Tags: Molecules in pathogenesis Source Type: research
Answering Irelands call: pathology during the COVID-19 pandemic
Introduction The unprecedented healthcare demands, generated in response to the novel SARS-CoV-2 pathogen, were met by a resilient pathology service in Ireland that supported all aspects of patient management. As in the UK and elsewhere, pathology departments in Ireland include the disciplines of histopathology, microbiology, haematology, immunology and chemical pathology, with delivery of these services (to a population of 4.9 million) being largely hospital based. They are funded directly or indirectly by the publically funded health service executive (HSE) with private hospital laboratories also contributing, especially...
Source: Journal of Clinical Pathology - October 18, 2022 Category: Pathology Authors: Humphreys, H., Burke, L., O'Connell, K., Keogan, M. Tags: COVID-19 Viewpoint Source Type: research
