MARC details
| 000 -LEADER |
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| fixed length control field |
05144nam a22007097a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
200709s20202020 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
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| International Standard Serial Number |
2574-3805 |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1001/jamanetworkopen.2020.1357 [doi] |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
2763227 [pii] |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
PMC7090965 [pmc] |
| 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 |
32202644 |
| 245 ## - TITLE STATEMENT |
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| Title |
Assessment of Thyroid Function in Patients With Alkaptonuria. |
| 251 ## - Source |
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| Source |
JAMA Network Open. 3(3):e201357, 2020 03 02. |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
JAMA netw. open. 3(3):e201357, 2020 03 02. |
| 252 ## - Abbreviated Source |
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| Former abbreviated source |
JAMA netw. open. 3(3):e201357, 2020 Mar 02. |
| 253 ## - Journal Name |
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| Journal name |
JAMA network open |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Year |
2020 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Manufacturer |
FY2020 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Publication status |
epublish |
| 266 ## - Date added to catalog |
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| Date added to catalog |
2020-07-09 |
| 268 ## - Previous citation |
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| -- |
JAMA Network Open. 3(3):e201357, 2020 Mar 02. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Conclusions and Relevance: The high prevalence of primary hypothyroidism noted in patients with alkaptonuria in this study suggests that serial screening in this population should be considered and prioritized. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Design, Setting, and Participants: A single-center cohort study was conducted in a tertiary referral center including patients with alkaptonuria followed up for a median of 93 (interquartile range, 48-150) months between February 1, 2000, and December 31, 2018. The alkaptonuria diagnosis was based on clinical presentation and elevated urine HGA levels. A total of 130 patients were considered for participation. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Importance: Alkaptonuria is an autosomal recessive disorder caused by pathogenic variants in the HGD gene. Deficiency of the HGD enzyme leads to tissue deposition of homogentisic acid (HGA), causing severe osteoarthropathies and cardiac valve degeneration. Although HGD is vital for the catabolism of tyrosine, which provides the basis for thyroid hormone synthesis, the prevalence of thyroid dysfunction in alkaptonuria is unknown. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Main Outcomes and Measures: Prevalence of thyroid dysfunction in adults with alkaptonuria compared with the general population. Thyrotropin and free thyroxine levels were measured by immunoassay and repeated in each patient a median of 3 (interquartile range, 2-22) times. Neck ultrasonographic scans were analyzed in a subset of participants. Logistic regression was used to test the association of thyroid dysfunction with age, sex, thyroid peroxidase (TPO) antibodies, serum tyrosine levels, and urine HGA levels. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Objective: To assess thyroid structure and function in patients with alkaptonuria. |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Results: Of the 130 patients, 5 were excluded owing to thyroidectomy as the cause of hypothyroidism. The study cohort consisted of 125 patients; the median age was 45 (interquartile range, 35-51) years. Most of the patients were men (72 [57.6%]). The prevalence of primary hyperthyroidism was 0.8% (1 of 125 patients), similar to 0.5% observed in the general population (difference, 0.003; 95% CI, -0.001 to 0.04; P = .88). The prevalence of primary hypothyroidism was 16.0% (20 of 125 patients), which is significantly higher than 3.7% reported in the general population (difference, 0.12; 95% CI, 0.10-0.24; P < .001). Women were more likely to have primary hypothyroidism than men (odds ratio, 10.99; 95% CI, 3.13-38.66; P < .001). Patients with TPO antibodies had a higher likelihood of primary hypothyroidism than those without TPO antibodies (odds ratio, 7.36; 95% CI, 1.89-28.62; P = .004). There was no significant difference in the prevalence of thyroid nodules between patients in this study (29 of 49 [59.2%]) vs the general population (68%) (difference, 0.088; 95% CI, -0.44 to 0.73; P = .20) or of cancer (7% vs 5%; difference, 0.01; 95% CI, -0.01 to 0.17; P = .86). |
| 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 |
*Alkaptonuria/me [Metabolism] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Hypothyroidism/ep [Epidemiology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Adult |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Alkaptonuria/co [Complications] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Alkaptonuria/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Autoantibodies/bl [Blood] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Autoantigens/im [Immunology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Cohort Studies |
| 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 |
Homogentisic Acid/ur [Urine] |
| 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 |
Hyperthyroidism/ep [Epidemiology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Hyperthyroidism/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Hypothyroidism/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Iodide Peroxidase/im [Immunology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Iron-Binding Proteins/im [Immunology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Logistic Models |
| 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 |
Middle Aged |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Prevalence |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Thyroid Function Tests |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Thyroid Gland/en [Enzymology] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Thyrotropin/bl [Blood] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Thyroxine/bl [Blood] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Tyrosine/bl [Blood] |
| 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/Endocrinology |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Burman, Kenneth D |
| 790 ## - Authors |
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| All authors |
Auh S, Avadhanula S, Burman KD, Ciccone C, Filie AC, Hannah-Shmouni F, Introne WJ, Klubo-Gwiezdzinska J, Regier D, Soldin SJ, Stolze B |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="https://dx.doi.org/10.1001/jamanetworkopen.2020.1357">https://dx.doi.org/10.1001/jamanetworkopen.2020.1357</a> |
| Public note |
https://dx.doi.org/10.1001/jamanetworkopen.2020.1357 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Article |
