Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0393754 (HSA)
 2,996 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the abnormal albumin in members of a Thai family that presented with high serum total T3 but not T4 when measured by radioimmunoassay. In contrast, total T3 values were very low when measured by ELISA and chemiluminescence. The subjects have no goiter, and clinically euthyroid. Their serum free T4, free T3, and TSH were normal. Spiking of T3 to affected serum showed good recovery by radioimmunoassay, but very poor recovery by ELISA and by chemiluminescence. The immunoprecipitation with labeled T3 bound to albumin showed high percent precipitation in affected serum. T3-binding studies showed that the association constant of serum albumin in affected subjects was 1.5 x 10(6) M-1 or 40-fold that of unaffected relatives of 3.9 x 10(4) M-1. In contrast, the Ka of HSA for T4 in an affected subject was only 1.5-fold that of a normal. Albumin complementary DNA from leukocytes of affected member was amplified and sequenced. We found the second nucleotide of normal codon 66 (CTT), a thymine, was substituted by a cytosine (CCT), resulting in the replacement of the normal leucine by proline. This is the first report of variant albumin causing familial dysalbuminemic hypertriiodothyroninemia.
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PMID:Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. 958 37

Nuclear medicine plays an important role in the diagnosis and treatment of thyroid and parathyroid disorders. Basic nuclear medicine in the diagnosis of thyroid and parathyroid disorders and our clinical study on 131I treatment for differentiated thyroid cancer are described. Characteristics of thyroid, parathyroid, tumor scans and typical bone scintigrams in hyperparathyroidism are presented. Combined 99mTc-MIBI/99mTc-HSA-D SPECT imaging clearly demonstrated localization of ectopic parathyroid adenoma. Very interesting uncommon three cases of thyroid cancer are presented. 99mTcO4- thyroid scan in the first patient demonstrated intense tracer uptake in the lymph node metastasis from papillary microcancer. Post-therapy 131I scan following total thyroidectomy visualized multiple pulmonary metastases. The second patient with metastatic follicular cancer developed thyrotoxicosis with high TSH receptor antibodies. Post-therapy 131I total body scan in the third patient with papillary cancer demonstrated large skull metastasis. Cardiac blood pool and large blood vessel visualization was also clearly seen at this time.
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PMID:[Nuclear medicine of the thyroid and parathyroid glands]. 1180 77