MARC details
| 000 -LEADER |
|---|
| fixed length control field |
03847nam a22003857a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
230411s20232023 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
|---|
| International Standard Serial Number |
0028-3878 |
| 024 ## - OTHER STANDARD IDENTIFIER |
|---|
| Standard number or code |
10.1212/WNL.0000000000207158 [doi] |
| 024 ## - OTHER STANDARD IDENTIFIER |
|---|
| Standard number or code |
WNL.0000000000207158 [pii] |
| 040 ## - CATALOGING SOURCE |
|---|
| Original cataloging agency |
Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
|---|
| PMID |
36941075 |
| 245 ## - TITLE STATEMENT |
|---|
| Title |
Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis. |
| 251 ## - Source |
|---|
| Source |
Neurology. 2023 Mar 20 |
| 252 ## - Abbreviated Source |
|---|
| Abbreviated source |
Neurology. 2023 Mar 20 |
| 253 ## - Journal Name |
|---|
| Journal name |
Neurology |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
|---|
| Year |
2023 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
|---|
| Manufacturer |
FY2023 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
|---|
| Publication date |
2023 Mar 20 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
|---|
| Publication status |
aheadofprint |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
|---|
| Medline status |
Publisher |
| 266 ## - Date added to catalog |
|---|
| Date added to catalog |
2023-04-11 |
| 501 ## - WITH NOTE |
|---|
| Local holdings |
Available online from MWHC library: 1995 - present, Available in print through MWHC library: 1999 - 2006 |
| 520 ## - SUMMARY, ETC. |
|---|
| Abstract |
BACKGROUND AND OBJECTIVES: 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 US where disease is non-endemic. 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. |
|---|
| Abstract |
DISCUSSION: Important clinical differences exist between ATTRv genotypes. While V122I is perceived to be a cardiac disease, peripheral neuropathy 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 American Academy of Neurology. |
| 520 ## - SUMMARY, ETC. |
|---|
| 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 neurological (examination, EMG, skin biopsy), cardiac (echo) and laboratory assessments (proBNP, reversible neuropathy screens) are described. |
| 520 ## - SUMMARY, ETC. |
|---|
| Abstract |
RESULTS: 56 patients with treatment-naive ATTRv with symptoms/signs of peripheral neuropathy 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 gender distributions were similar (V122I: 71.5+/-8.0, V30M: 64.8+/-2.6, L58H: 62.4+/-9.8years; 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. Peripheral neuropathy was present in all three variants at diagnosis (90, 100, 100%) though neurological 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%; L58H: 77%, 77%). ProBNP levels and interventricular septum thickness were highest among patients with V122I (5939+/-962pg/mL, 1.70+/-0.29cm) followed by V30M (796+/-970pg/mL, 1.42+/-0.38cm) and L58H (404+/-677pg/mL, 1.23+/-0.36cm). Atrial fibrillation was present among 39% of V122I cases and only 8% of V30M and L58H cases. Gastrointestinal symptoms were rare (6%) among patients with V122I and common in patients with V30M (42%) and L58H (54%). |
| 546 ## - LANGUAGE NOTE |
|---|
| Language note |
English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
IN PROCESS -- NOT YET INDEXED |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
|---|
| Institution |
MedStar Heart & Vascular Institute |
| 657 ## - INDEX TERM--FUNCTION |
|---|
| Medline publication type |
Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
|---|
| Local Authors |
Sheikh, Farooq H |
| Institution Code |
MHVI |
| 790 ## - Authors |
|---|
| All authors |
Zampino S, Sheikh FH, Vaishnav J, Judge D, Pan B, Daniel A, Brown E, Ebenezer G, Polydefkis M |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
|---|
| 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) |
|---|
| Koha item type |
Journal Article |
| Item type description |
Article |
