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12 results on '"Renaut, Patricia"'

7. SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history.

Author

Wendy Chang, Renaut, Patricia, and Pretorius, Casper

Abstract

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management. [ABSTRACT FROM AUTHOR]

Published
2020
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10. Proteomics in Molecular Diagnosis: Typing of Amyloidosis

Author

Loo, Dorothy, Mollee, Peter N., Renaut, Patricia, and Hill, Michelle M.

Subjects
Article Subject
Abstract

Amyloidosis is a group of disorders caused by deposition of misfolded proteins as aggregates in the extracellular tissues of the body, leading to impairment of organ function. Correct identification of the causal amyloid protein is absolutely crucial for clinical management in order to avoid misdiagnosis and inappropriate, potentially harmful treatment, to assess prognosis and to offer genetic counselling if relevant. Current diagnostic methods, including antibody-based amyloid typing, have limited ability to detect the full range of amyloid forming proteins. Recent investigations into proteomic identification of amyloid protein have shown promise. This paper will review the current state of the art in proteomic analysis of amyloidosis, discuss the suitability of techniques based on the properties of amyloidosis, and further suggest potential areas of development. Establishment of mass spectrometry aided amyloid typing procedures in the pathology laboratory will allow accurate amyloidosis diagnosis in a timely manner and greatly facilitate clinical management of the disease.

Published
2011
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12. Fibrillary glomerulonephritis: presenting as crescentic glomerulonephritis causing rapidly progressive renal failure.

Author

Nilajgi, Shalini, Killen, John Paul, Baer, Richard, Renaut, Patricia, and Mantha, Murty

Subjects
DISEASE progression, GLOMERULONEPHRITIS, KIDNEY failure, IMMUNOFLUORESCENCE, ELECTRON microscopy, DIAGNOSIS
Abstract

We report an unusual case of fibrillary glomerulonephritis (FGN) presenting as rapidly progressive renal failure and extensive crescent formation along with linear staining of capillary walls of the glomeruli on immunofluorescence, mimicking anti-glomerular basement membrane (anti-GBM) antibody-mediated disease. Laboratory results for circulating anti-GBM antibodies were negative. The subsequent electron microscopic findings were that of presence of electron-dense deposits in the glomerular mesangium and capillary walls, comprising of non-branching fibrils with an average diameter of 16 nm consistent with a diagnosis of FGN. This case illustrates the crucial role of electron microscopy in differential diagnosis of crescentic glomerulonephritis. [ABSTRACT FROM PUBLISHER]

Published
2011

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