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Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I (2000)

Kim, S. Z. ; Kupke, K. G. ; Ierardi-Curto, L. ; [et al.]

Springer

Journal of inherited metabolic disease 23 (2000), S. 791-804

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ISSN: 1573-2665

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Tyrosinaemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma, in childhood or early adolescence. We studied a 37-year-old woman with tyrosinaemia I whose severe liver disease in infancy and rickets during childhood resolved with dietary therapy. From 14 years of age she resumed an unrestricted diet with the continued presence of the biochemical features of tyrosinaemia, yet maintained normal liver function. In adult years she accumulated only small amounts of succinylacetone. Despite this evolution to a mild biochemical and clinical phenotype, she eventually developed hepatocellular carcinoma. Her fumarylacetoacetate hydrolase genotype consists of a splice mutation, IVS6−1g〉t, and a novel missense mutation, Q279R. Studies of resected liver demonstrated the absence of hydrolytic activity and of immunological expression of fumarylacetoacetate hydrolase in liver tumour. In nontumoral areas, however, 53% of normal hydrolytic activity and immunologically present fumarylacetoacetate hydrolase was found. This case demonstrates the high risk of liver cancer in tyrosinaemia I even in a seemingly favourable biological environment.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1023/A:1026756501669

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Preparation of biological tissue sections for correlative ion, electron, and light microscopy (1984)

Kupke, K. G. ; Pickett, J. P. ; Ingram, P. ; [et al.]

New York, NY : Wiley-Blackwell

Journal of Electron Microscopy Technique 1 (1984), S. 299-309

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ISSN: 0741-0581

Keywords: Electron microscopy ; Ion microscopy ; Correlative microscopy ; Electron probe microanalysis ; Life and Medical Sciences ; Cell & Developmental Biology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Natural Sciences in General

Notes: In order to correctly interpret the chemical images obtained using ion microscopy (IM), it is useful to correlate them with the information provided by conventional light microscopy (LM), secondary electron imaging (SEI), backscattered electron imaging (BEI), and electron probe microanalysis (EPMA). Accordingly, we have devised a technique of specimen preparation which allows for the application of several different microanalytical techniques to a single histologic section mounted on the same substrate. Sections are cut onto polyester plastic coverslips (devoid of peaks for any element with atomic number 〉 9 using EPMA) and studied by LM. After a light rotary coating with carbon (to prevent charging), the section can then be examined by SEI, BEI, and EPMA. Specific areas can be marked for IM study either with an objective-mounted pin tissue microlocater, or by placing small pieces of metal foil, cut in specific geometric shapes, over features of interest. After sputter-coating the sample with platinum, metal-free shadows are visible using a low-power reflected light microscope available on a typical IM sample chamber as a guide for ion beam placement. The conductive coatings also minimize specimen charging during IM. Post-IM light microscopy, SEI, and BEI are used to confirm the location of specific areas probed in the IM experiments and to provide information on differential ion-sputtering artifacts and tissue contaminants. This new correlative technique should permit better understanding of the images obtained with these diverse instruments.

Additional Material: 7 Ill.