MARC details
| 000 -LEADER |
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| fixed length control field |
04565nam a22005417a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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230601s20232023 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
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| International Standard Serial Number |
0028-3878 |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1212/WNL.0000000000207158 [doi] |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
PMC10186220 [pmc] |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
WNL.0000000000207158 [pii] |
| 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 |
36941075 |
| 245 ## - TITLE STATEMENT |
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| Title |
Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis. |
| 251 ## - Source |
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| Source |
Neurology. 100(19):e2036-e2044, 2023 05 09. |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
Neurology. 100(19):e2036-e2044, 2023 05 09. |
| 253 ## - Journal Name |
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| Journal name |
Neurology |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Year |
2023 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Manufacturer |
FY2023 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Publication date |
2023 05 09 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Publication status |
ppublish |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Medline status |
MEDLINE |
| 266 ## - Date added to catalog |
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| Date added to catalog |
06/01/2023 |
| 501 ## - WITH NOTE |
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| Local holdings |
Available online from MWHC library: 1995 - present, Available in print through MWHC library: 1999 - 2006 |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
BACKGROUND AND OBJECTIVES: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant systemic disease with variable penetrance and heterogeneous clinical presentation. Several effective treatments can reduce mortality and disability, though diagnosis remains challenging, especially in the United States where disease is nonendemic. Our aim is to describe the neurologic and cardiac characteristics of common US ATTR variants V122I, L58H, and late-onset V30M at presentation. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
DISCUSSION: Important clinical differences exist between ATTRv genotypes. While V122I is perceived to be a cardiac disease, PN is common and clinically relevant. Most patients with V30M and V122I were diagnosed de novo and therefore require clinical suspicion for diagnosis. A history of CTS and a positive Romberg sign are helpful diagnostic clues. Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
METHODS: We conducted a retrospective case series of patients with a new diagnosis of ATTRv between January 2008 and January 2020 to characterize features of prominent US variants. The neurologic (examination, EMG, and skin biopsy), cardiac (echo), and laboratory assessments (pro b-type natriuretic peptide [proBNP] and reversible neuropathy screens) are described. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
RESULTS: A total of 56 patients with treatment-naive ATTRv with symptoms/signs of peripheral neuropathy (PN) or cardiomyopathy and confirmatory genetic testing presenting with Val122Ile (N = 31), late-onset Val30Met (N = 12), and Leu58His ATTRv (N = 13) were included. The age at onset and sex distributions were similar (V122I: 71.5 +/- 8.0, V30M: 64.8 +/- 2.6, and L58H: 62.4 +/- 9.8 years; 26, 25, 31% female). Only 10% of patients with V122I and 17% of patients with V30M were aware of an ATTRv family history, while 69% of patients with L58H were aware. PN was present in all 3 variants at diagnosis (90%, 100%, and 100%), though neurologic impairment scores differed: V122I: 22 +/- 16, V30M: 61 +/- 31, and L58H: 57 +/- 25. Most points (deficits) were attributed to loss of strength. Carpal tunnel syndrome (CTS) and a positive Romberg sign were common across all groups (V122I: 97%, 39%; V30M: 58%, 58%; and L58H: 77%, 77%). ProBNP levels and interventricular septum thickness were highest among patients with V122I (5,939 +/- 962 pg/mL, 1.70 +/- 0.29 cm), followed by V30M (796 +/- 970 pg/mL, 1.42 +/- 0.38 cm) and L58H (404 +/- 677 pg/mL, 1.23 +/- 0.36 cm). Atrial fibrillation was present among 39% of cases with V122I and only 8% of cases with V30M and L58H. Gastrointestinal symptoms were rare (6%) among patients with V122I and common in patients with V30M (42%) and L58H (54%). |
| 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 |
*Amyloid Neuropathies, Familial |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Cardiomyopathies |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Amyloid Neuropathies, Familial/di [Diagnosis] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Cardiomyopathies/co [Complications] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Cardiomyopathies/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Female |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Humans |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Male |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Phenotype |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Prealbumin/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Retrospective Studies |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Indexing |
Automated |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
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| Institution |
MedStar Heart & Vascular Institute |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Research Support, Non-U.S. Gov't |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Sheikh, Farooq H |
| Institution Code |
MHVI |
| 790 ## - Authors |
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| All authors |
Brown E, Daniel A, Ebenezer G, Judge D, Pan B, Polydefkis M, Sheikh FH, Vaishnav J, Zampino S |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="https://dx.doi.org/10.1212/WNL.0000000000207158">https://dx.doi.org/10.1212/WNL.0000000000207158</a> |
| Public note |
https://dx.doi.org/10.1212/WNL.0000000000207158 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Article |
