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Perth, Australia

Chan K.,Medical Center | Brown I.S.,Envoi Pathology | Kyle T.,St John of God Pathology | Lauwers G.Y.,Harvard University | And 2 more authors.

Aims: Rare gastric lesions composed of a combined proliferation of chief and oxyntic cells have been variably called adenocarcinoma of fundic gland type and oxyntic gland polyp/adenoma. Herein, we present a series of cases that show a morphological spectrum of chief and oxyntic cell proliferations. Methods and results: Routine and consultation cases were collated from five institutions. Information regarding site, size, endoscopic appearance, clinical history and medication use, when available, was accrued, as was the histological features and immunoprofiles. A total of 12 cases were collated. Age ranged from 39 to 81 years. All the lesions were located in the fundus; seven of eight were polypoid lesions endoscopically. Lesions were primarily solitary, averaged 4.6 mm in diameter (largest 9 mm) and comprised >50% chief cells. The predominant architectural pattern was of anastomosing and solid and clustered glands or a mixture of these patterns. Lesions were limited mainly to the mucosa, although two showed submucosal involvement. None had known metastatic disease. Conclusions: This series included lesions that were previously described as gastric adenocarcinoma of fundic gland type and oxyntic gland polyp/adenoma. They are located exclusively in the fundus and composed predominantly of chief cells with low-grade cytology and appear to show a morphological continuum. © 2016 John Wiley & Sons Ltd. Source

Joly Y.,McGill University | Zeps N.,St John of God Pathology | Zeps N.,University of Western Australia | Knoppers B.M.,McGill University
Human Genetics

Large-scale, public genomic databases have greatly improved the capacity of researchers to do genomic research. In order to ensure that the scientific community uses data from these public resources properly, data access agreements have been developed to complement already existing legal and ethical norms. Sanctions to address cases of data misuse constitute an essential part of this compliance framework meant to protect stakeholders in genomic research. Yet very little research and community debate has been done on this most important topic. This paper presents a review of different sanctions that could be invoked in cases of non-compliance from data users. They have been identified through comprehensive research and analysis of over 450 documents (journal articles, policy, guidelines, access policies, etc.) related to this topic. Given the considerable impact on users of even the milder sanctions considered in our paper, it is essential that stakeholders strive to achieve the highest degree of standardization and transparency when designing controlled-access agreements. It is only fair, after all, that users be able to expect that the border between acceptable and unacceptable conduct is clearly delineated and predictable in controlled-access policies. This suggests the importance for researchers to undertake additional empirical studies on the clarity and accessibility of existing database access agreements and related policies in the near future. © Springer-Verlag 2011. Source

Bender R.,PathWest Laboratory Medicine WA | Bender R.,University of Western Australia | Bell D.A.,PathWest Laboratory Medicine WA | Bell D.A.,University of Western Australia | And 8 more authors.

Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by increased plasma concentrations of low density lipoprotein (LDL) cholesterol leading to atherosclerosis and premature coronary heart disease (CHD) and death. The clinical diagnosis of FH is based on a personal and family history, physical examination findings and LDL-cholesterol concentrations. FH is primarily caused by mutations in the LDL-receptor gene (LDLR), and less frequently by mutations in genes for APOB and the more recently identified PCSK9. Lifestyle modification and pharmacotherapy can delay or prevent the onset of CHD in FH. It is estimated that only 20% of cases have been diagnosed in Australia and that the majority are inadequately treated. Screening options for FH include population screening (of children or adults), targeted screening of patients with premature CHD and their relatives, or opportunistic screening such as flagging laboratory lipid reports. Cascade screening, a form of targeted screening, is an ethically acceptable, costeffective strategy for the identification of FH. However, for screening to be successful, medical practitioners need to be aware of the signs and diagnosis of FH and the benefits of early treatment. © 2012 Royal College of Pathologists of Australasia. Source

Bell D.A.,University of Western Australia | Hooper A.J.,University of Western Australia | Edwards G.,St John of God Pathology | Southwell L.,University of Western Australia | And 5 more authors.

Objective: To determine whether a telephone call from a chemical pathologist to the requesting general practitioner (GP) of individuals at high risk of familial hypercholesterolaemia (FH) increases specialist referral and detection of FH. Method: Individuals with an LDL-cholesterol ≥6.5mmol/L without secondary causes were identified from a community laboratory; 100 cases and 96 historical controls. All laboratory reports (cases and controls) received interpretative comments highlighting FH. In addition, the cases' GPs received a telephone call from the chemical pathologist to highlight their patient's risk of FH and suggest specialist referral, whereas with the controls' GPs were not telephoned. Results: After 12 months follow-up, 27 (27%) cases were referred to clinic compared with 4 (4%) controls (p<0.0001). 25 cases were reviewed at clinic, 12 (48%) had definite FH and 18 (72%) had probable or definite FH according to the Dutch Lipid Clinic Network Criteria, 2 cases did not attend their clinic appointments. Genetic testing was performed in 23 individuals: 7 (30%) had pathogenic FH mutations. Genotypic cascade screening of 4 kindreds from the intervention group detected an additional 7 individuals with FH and excluded 5 mutation-negative family members. Conclusions: A telephone call from a chemical pathologist to the requesting GP of patients at high risk of FH was associated with significantly higher rates of FH detection and specialist referral. Over 70% of individuals with an LDL-cholesterol ≥6.5mmol/L were diagnosed with FH. However, further investigation is required to improve the relatively low referral rate. © 2014 Elsevier Ireland Ltd. Source

Wong D.D.,Medical Center | Wong D.D.,University of Western Australia | Spagnolo D.V.,Medical Center | Spagnolo D.V.,University of Western Australia | And 5 more authors.
Human Pathology

Oncocytic adrenocortical neoplasms (OANs) are a rare but important subtype of adrenal tumors with unique clinical and morphological features. We present 13 previously unpublished cases, of which 3 were classified as benign, 2 as having borderline malignant potential, and 8 as malignant according to the Lin-Weiss-Bisceglia criteria. Seven tumors (54%) showed evidence of endocrine activity. All were composed of more than 90% oncocytes confirmed immunohistochemically using the antimitochondrial antibody mES-13 and ultrastructurally in 4 cases. Small oncocytes were a frequent finding that challenges the conventional notion of oncocytes as necessarily having abundant cytoplasm. Most cases were immunoreactive for vimentin, synaptophysin, inhibin-α, melan A, and calretinin, the latter being a novel finding in this group of neoplasms. Cytokeratin positivity with AE1/AE3 and CAM5.2 was variable. The literature was comprehensively reviewed to identify all cases of OANs reported to date. Hormone production is not as uncommon as previously believed, occurring in 30%. The Lin-Weiss-Bisceglia criteria were retrospectively applied to all published cases with sufficient information and were shown to effectively separate tumors according to their future risk of recurrence and survival using Kaplan-Meier survival curves (log-rank test, P < .001 for both). The estimated overall median survival for malignant oncocytic neoplasms is 58 months (95% confidence interval = 27.5-88.5 months), providing the first preliminary evidence that the prognosis of malignant OANs is likely to be more favorable than conventional adrenocortical carcinomas, in which the reported median survival is between 14 and 32 months. © 2011 Elsevier Inc. All rights reserved. Source

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