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Journal of Clinical Pathology

Xi Wu, Lei Li, Qiulan Ding, Xuefeng Wang, Fang Wu, Wenman Wu
AIMS: Dysfunctional prothrombin residue Arg596 associated mutation has been found to precipitate venous thromboembolism (VTE). In the current study we investigated the prevalence of Arg596 associated mutations in Chinese patients with VTE and explored the functional impact of Arg596Gln mutation on coagulation function in affected patients. METHODS: Prothrombin clotting activity was measured in 267 unrelated patients with unprovoked VTE. Patients with moderately decreased activities underwent further analysis of the F2 gene...
January 13, 2018: Journal of Clinical Pathology
Bethany Jill Williams, Jessica Lee, Karin A Oien, Darren Treanor
AIM: To canvass the UK pathology community to ascertain current levels of digital pathology usage in clinical and academic histopathology departments, and prevalent attitudes to digital pathology. METHODS: A 15-item survey was circulated to National Health Service and academic pathology departments across the UK using the SurveyMonkey online survey tool. Responses were sought at a departmental or institutional level. Where possible, departmental heads were approached and asked to complete the survey, or forward it to the most relevant individual in their department...
January 9, 2018: Journal of Clinical Pathology
Maria Rosaria Raspollini, Ilaria Montagnani, Rodolfo Montironi, Francesca Castiglione, Guido Martignoni, Liang Cheng, Antonio Lopez-Beltran
Clear cell renal cell carcinoma (ccRCC) is an heterogeneous tumour at architectural, cellular and molecular level, a reason why the 2014 International Society of Urological Pathology consensus recommended wide sampling of RCC masses to include at least 1 block/cm of tumour together with perpendicular sections of the tumour/perinephric fat interface and the tumour/renal sinus interface. Intratumoural molecular heterogeneity may be a limitation at the moment of defining precision medicine strategies based on gene mutation status...
January 9, 2018: Journal of Clinical Pathology
Masakazu Fujimoto, Ibu Matsuzaki, Masaru Nishino, Yoshifumi Iwahashi, Kenji Warigaya, Fumiyoshi Kojima, Kazuo Ono, Shin-Ichi Murata
AIMS: α-Fetoprotein (AFP)-producing gastric carcinoma (AFPGC) is one of the most aggressive GC subtypes. Frequent expression of human epidermal growth factor receptor 2 (HER2) has previously been reported in hepatoid adenocarcinoma (HAC), a major histological subtype of AFPGC originating from common-type GC (CGC). However, HER2 expression levels in other AFPGC histological subtypes are unknown. In this study, we analysed HER2 expression in GCs with primitive phenotypes in addition to HAC...
January 5, 2018: Journal of Clinical Pathology
Emily Frances Reid, Mamidupudi Thirumala Krishna, Claire Bethune
AIM: To record the level of allergy teaching occurring in UK medical schools. The UK has experienced an 'allergy epidemic' during the last 3-4 decades. Previous government reviews have emphasised the importance of allergy education and training, treating common allergies in primary care with referral pathways to a specialist and the creation of regional networks. It is acknowledged that the delivery of allergy teaching in UK medical schools is variable, despite the well-recognised need...
January 5, 2018: Journal of Clinical Pathology
Cécile Dumas, Anne-Lise Bienvenu, Sandrine Girard, Stéphane Picot, Gisèle Debize, Brigitte Durand
BACKGROUND: Malaria is a potentially severe disease affecting nearly 200 million people per year. Early detection of the parasite even in unsuspected patients remains the challenging aim for effective patient care. Automated complete blood counts that are usually performed for any febrile patient might represent a tool to ascertain malaria infection. AIMS: To evaluate the ability of the new generation of the Sysmex hematology analyzer (XN-series) to detect malaria...
January 3, 2018: Journal of Clinical Pathology
Matthias Orth, Maria Averina, Stylianos Chatzipanagiotou, Gilbert Faure, Alexander Haushofer, Vesna Kusec, Augusto Machado, Siraj A Misbah, Wytze Oosterhuis, Kari Pulkki, Patrick J Twomey, Eberhard Wieland
The role of clinical pathologists or laboratory-based physicians is being challenged on several fronts-exponential advances in technology, increasing patient autonomy exercised in the right to directly request tests and the use of non-medical specialists as substitutes. In response, clinical pathologists have focused their energies on the pre-analytical and postanalytical phases of Laboratory Medicine thus emphasising their essential role in individualised medical interpretation of complex laboratory results...
December 22, 2017: Journal of Clinical Pathology
Chiel Hex, Miek Smeets, Joris Penders, Viviane Van Hoof, Jan Verbakel, Frank Buntinx, Bert Vaes
AIMS: N-terminal pro-B-type natriuretic peptide (NT-proBNP) has been shown to be useful for ruling out heart failure in primary care. In this study, we examined the accuracy of the Cobas h232 point-of-care (POC) instrument in primary care compared with an in-hospital measurement. Furthermore, we investigated the user-friendliness and usefulness of the POC device. METHODS: Five general practitioner (GP) groups were asked to evaluate adult patients who were suspected of having heart failure and to test NT-proBNP with the Cobas h232...
December 20, 2017: Journal of Clinical Pathology
Marcos Tadeu Dos Santos, Bruno Feres de Souza, Flavio Mavignier Cárcano, Ramon de Oliveira Vidal, Cristovam Scapulatempo-Neto, Cristiano Ribeiro Viana, Andre Lopes Carvalho
AIMS: Cancers of unknown primary sites account for 3%-5% of all malignant neoplasms. Current diagnostic workflows based on immunohistochemistry and imaging tests have low accuracy and are highly subjective. We aim to develop and validate a gene-expression classifier to identify potential primary sites for metastatic cancers more accurately. METHODS: We built the largest Reference Database (RefDB) reported to date, composed of microarray data from 4429 known tumour samples obtained from 100 different sources and divided into 25 cancer superclasses formed by 58 cancer subclass...
December 16, 2017: Journal of Clinical Pathology
Benjamin Nathanael Loke, Nur Diyana Md Nasir, Aye Aye Thike, Jonathan Yu Han Lee, Cheok Soon Lee, Bin Tean Teh, Puay Hoon Tan
Fibroadenomas of the breast are benign fibroepithelial tumours most frequently encountered in women of reproductive age, although they may be diagnosed at any age. The fibroadenoma comprises a proliferation of both stromal and epithelial components. The mechanisms underlying fibroadenoma pathogenesis remain incompletely understood. In the clinical setting, distinguishing cellular fibroadenomas from benign phyllodes tumours is a common diagnostic challenge due to subjective histopathological criteria and interobserver differences...
December 16, 2017: Journal of Clinical Pathology
Anwarul Islam
The optimal clinical evaluation of the bone marrow requires an examination of air-dried and well-stained films of the aspirated tissue along with a histopathological evaluation of adequately processed and properly stained core biopsy specimens. A bone marrow evaluation can be essential in establishing a diagnosis, determining the efficacy of treatment in haematological disorders and to monitor haematological status of patients following bone marrow/stem cell transplantation. It is also an essential component of the staging process for newly diagnosed malignancies...
December 7, 2017: Journal of Clinical Pathology
Giacomo Puppa, Gregoire Arnoux, Aysegul Sari, Richard Kirsch
No abstract text is available yet for this article.
December 6, 2017: Journal of Clinical Pathology
Christopher William Bleaney, Mickhaiel Barrow, Stephen Hayes, Yeng Ang
AIM: To review the current understanding of signet-ring type oesophageal adenocarcinoma including evidence for prognosis. METHODS: We conducted a literature search of nine healthcare literature databases for articles detailing the biology and clinical outcomes of signet-ring cell adenocarcinoma of the oesophagus. The impact of signet-ring cell morphology was analysed and detailed in written text and tabular format. Current understanding of the biology of signet-ring cell adenocarcinoma of the oesophagus was summarised...
December 6, 2017: Journal of Clinical Pathology
Ming-Chung Kuo, Tung-Huei Lin, Chien-Feng Sun, Tung-Liang Lin, Jin-Hou Wu, Po-Nan Wang, Ying-Jung Huang, Hung Chang, Ting-Yu Huang, Lee-Yung Shih
AIMS: We investigated the clinical and prognostic relevance of the mutational status of driver genes with allele burden and endogenous erythroid colony (EEC) growth in 203 Taiwanese patients with primary myelofibrosis (PMF). METHODS: Pyrosequencing was used to detect JAK2V617F mutational status and measure allele burden, while MPL (exon 10) mutations were analysed by PCR assay and then by direct sequencing. CALR exon 9 mutations were first screened for length changes by GeneScan followed by sequencing...
December 4, 2017: Journal of Clinical Pathology
Guy-Marino Hinnouho, Maxwell A Barffour, K Ryan Wessells, Kenneth H Brown, Sengchanh Kounnavong, Bigphone Chanhthavong, Kethmany Ratsavong, Chidchamai Kewcharoenwong, Sonja Y Hess
BACKGROUND: Haemoglobin (Hb) assessment by Hemocue is used widely for anaemia screening in both adults and children. However, few studies have compared the diagnostic accuracy of Hemocue with an automated haematology analyser in young children. AIM: To compare Hb concentrations by Hemocue Hb301 and two automated haematology analysers in young children in rural communities of Lao PDR. METHODS: Capillary blood was collected from 6-month-old to 23-month-old children (n=1487) for determination of Hb concentration by Hemocue Hb301...
December 2, 2017: Journal of Clinical Pathology
Wei Shen, Christian N Paxton, Philippe Szankasi, Maria Longhurst, Jonathan A Schumacher, Kimberly A Frizzell, Shelly M Sorrells, Adam L Clayton, Rakhi P Jattani, Jay L Patel, Reha Toydemir, Todd W Kelley, Xinjie Xu
AIMS: Genetic abnormalities, including copy number variants (CNV), copy number neutral loss of heterozygosity (CN-LOH) and gene mutations, underlie the pathogenesis of myeloid malignancies and serve as important diagnostic, prognostic and/or therapeutic markers. Currently, multiple testing strategies are required for comprehensive genetic testing in myeloid malignancies. The aim of this proof-of-principle study was to investigate the feasibility of combining detection of genome-wide large CNVs, CN-LOH and targeted gene mutations into a single assay using next-generation sequencing (NGS)...
December 2, 2017: Journal of Clinical Pathology
Elisabetta Kuhn, Ayse Ayhan
Immunohistochemistry is a valuable adjunct in routine gynaecological pathology. The molecular revolution has redesigned knowledge of gynaecological cancers and refined histological classification. The direct consequence has been the progressive introduction of new immunostainings for diagnostic and classification purposes. Hence, we review the routine diagnostic use of immunohistochemistry in the field of gynaecological neoplasia. We reviewed the immunomarkers useful in gynaecological pathology according to literature revision, our personal experience and research findings...
November 28, 2017: Journal of Clinical Pathology
Bede van Schaijik, Paul F Davis, Agadha C Wickremesekera, Swee T Tan, Tinte Itinteang
The stem cell markers octamer-binding transcription factor 4, sex-determining region Y-box 2, NANOG, Kruppel-like factor 4 and c-MYC are key factors in inducing pluripotency in somatic cells, and they have been used to detect cancer stem cell subpopulations in a range of cancer types. Recent literature has described the subcellular localisation of these markers and their potential implications on cellular function. This is a relatively complex and unexplored area of research, and the extent of the effect that subcellular localisation has on cancer development and growth is largely unknown...
November 27, 2017: Journal of Clinical Pathology
Ana Mafalda Pinto, Tamegão Aires Pereira, Valquíria Alves, António Araújo, Olga Maria Lage
AIMS: Streptococcus agalactiae, commonly known as group B Streptococcus (GBS), has been recognised as a worldwide causative pathogenic agent of neonatal sepsis, meningitis and pneumonia. To better understand the behaviour of S. agalactiae in pregnant women from a hospital from the North of Portugal, retrospective analyses were performed to describe epidemiological, clinical and microbiological characteristics of the isolates obtained. METHODS: Based on laboratorial records and the hospital's patient files, a 6-year retrospective study was performed to analyse S...
November 27, 2017: Journal of Clinical Pathology
Christopher Wai Siong Ng, Bustamin Kosmo, Peak-Ling Lee, Chun Kiat Lee, Jingxue Guo, Zhaojin Chen, Lily Chiu, Hong Kai Lee, Sherry Ho, Jianbiao Zhou, Mingxuan Lin, Karen M L Tan, Kenneth H K Ban, Tin Wee Tan, Wee Joo Chng, Benedict Yan
AIM: The presence of biallelic CEBPA mutations is a favourable prognostic feature in acute myeloid leukaemia (AML). CEBPA mutations are currently identified through conventional capillary sequencing (CCS). With the increasing adoption of next-generation sequencing (NGS) platforms, challenges with regard to amplification efficiency of CEBPA due to the high GC content may be encountered, potentially resulting in suboptimal coverage. Here, the performance of an amplicon-based NGS method using a laboratory-developed CEBPA-specific Nextera XT (CEBNX) was evaluated...
November 27, 2017: Journal of Clinical Pathology
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