MARC details
| 000 -LEADER |
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| fixed length control field |
03080nam a22003617a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
190314s20192019 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
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| International Standard Serial Number |
0270-9139 |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1002/hep.30578 [doi] |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
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| PMID |
30791107 |
| 245 ## - TITLE STATEMENT |
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| Title |
The Spectrum of Hepatic Involvement in Patients with Telomere Disease. |
| 251 ## - Source |
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| Source |
Hepatology. 2019 Feb 21 |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
Hepatology. 2019 Feb 21 |
| 253 ## - Journal Name |
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| Journal name |
Hepatology (Baltimore, Md.) |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Year |
2019 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Manufacturer |
FY2019 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Publication status |
aheadofprint |
| 266 ## - Date added to catalog |
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| Date added to catalog |
2019-03-14 |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
BACKGROUND: Loss-of-function mutations in genes that encode for components of the telomere repair complex cause accelerated telomere shortening. Hepatic involvement has been recognized as a cause of morbidity in telomere diseases, but very few studies have characterized the nature and extent of liver involvement in affected patients. We report the prevalence and characteristics of liver involvement in a large cohort of patients with telomere disease evaluated serially at the National Institutes of Health. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
CONCLUSION: In patients with telomere disease, hepatic involvement is common and can present in diverse ways, including elevated liver enzymes, histopathologic as well as imaging abnormalities. Liver disease has important implications for morbidity and mortality in patients with telomere disease. This article is protected by copyright. All rights reserved. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Copyright This article is protected by copyright. All rights reserved. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
METHODS: One hundred twenty-one patients with known or suspected telomere disease were screened; 40 patients with liver involvement were included in the current study. Median follow up was 2.4 years. Data were collected regarding their demographic information, laboratory analysis, imaging and histopathology. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
RESULTS: Forty patients (40% of the cohort) with a median age of 42 years were found to have liver involvement. Liver enzyme elevation was cholestatic in pattern; 8(21%) had drug related enzyme elevations. The most common imaging finding was increased hepatic echogenicity on ultrasound in 39% (9) patients, followed by hepatomegaly in 26% (6) subjects. Biopsies were infrequent due to risk associated with thrombocytopenia, but in six patients there were varying findings: nodular regenerative hyperplasia, steatohepatitis, hemosiderosis, cholestasis, and cirrhosis with hepatic steatosis. Almost half the cohort had pulmonary diffusion abnormalities, and 25% died during the follow up period. |
| 546 ## - LANGUAGE NOTE |
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| Language note |
English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
IN PROCESS -- NOT YET INDEXED |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
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| Institution |
MedStar Washington Hospital Center |
| 656 ## - INDEX TERM--OCCUPATION |
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| Department |
Medicine/Geriatrics |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Cho, Min Ho |
| 790 ## - Authors |
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| All authors |
Ben-Yakov G, Cho MH, Gara N, Heller T, Kalchiem-Dekel O, Kapuria D, Kim YJ, Kleiner DE, Koh C, Lingala S, Ortolano R, Takyar V, Tana M, Townsley DM, Young NS |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="https://dx.doi.org/10.1002/hep.30578">https://dx.doi.org/10.1002/hep.30578</a> |
| Public note |
https://dx.doi.org/10.1002/hep.30578 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Article |
