Tamiko Tamanaha

National Hospital Organization Minami Kyoto Hospital, Kioto, Kyōto, Japan

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Publications (11)26.97 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: Although IgG4-related disease is characterized by extensive infiltration of IgG4-positive plasma cells and lymphocytes of various organs, the details of this systemic disease are still unclear. We screened serum total IgG levels in the patients with Hashimoto thyroiditis (HT) to illustrate the prevalence of IgG4-related thyroiditis in HT. Twenty-four of 94 patients with HT (25.5 %) had elevated serum IgG levels and their serum IgG4 was measured. Five of the 24 cases had more than 135 mg/dL of IgG4, which is the serum criterion of IgG4-related disease. One was a female patient who was initially treated as Graves' disease and rapidly developed a firm goiter and hypothyroidism. The biopsy of her thyroid gland revealed that follicular cells were atrophic with squamous metaplasia, replaced with fibrosis, which was compatible with the fibrous variant of HT. Immunohistochemical examination revealed diffuse infiltration of IgG4-positive plasma cells, and the serum IgG4 level was 179 mg/dL. The levels of IgG and IgG4 were positively correlated with the titers of anti-thyroglobulin antibody or anti-thyroid peroxidase antibody. In conclusion, at least a small portion of patients with HT with high titers of anti-thyroid antibodies may overlap the IgG4-related thyroiditis.
    Endocrine 05/2013; · 1.42 Impact Factor
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    ABSTRACT: BACKGROUND: Multiple endocrine neoplasia type 2B (MEN2B) is the rarest and most aggressive form of MEN2. MEN2B cases usually carry either an M918T or A883T mutation of the RET, but to date, there are 3 atypical MEN2B caused by tandem mutations. METHODS AND RESULTS: A 32-year-old woman with no family history of medullary thyroid carcinoma (MTC) presented with a neck tumor and multiple mucosal nodules. She was diagnosed with MEN2B. Genetic analyses of RET revealed that she had 2 mutations, Q781R and V804M. Subclone and genetic analyses revealed that Q781R was on the paternal allele and V804M was a de novo. In silico analysis of the tandem mutations showed a high prediction score. CONCLUSIONS: We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B-like patient. In silico analysis showed a high prediction score, which was compatible with the clinical phenotype in the present case. © 2012 Wiley Periodicals, Inc. Head Neck, 2012.
    Head & Neck 03/2013; · 2.83 Impact Factor
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    ABSTRACT: Objective: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification.Methods: A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography. The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed.Results: Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger DNA binding domains, and is considered to be responsible for HDR syndrome.Conclusion: We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.
    Endocrine Practice 11/2012; · 2.49 Impact Factor
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    ABSTRACT: Although confirmatory testing to verify aldosterone excess is a key step in the diagnosis of primary aldosteronism (PA), there is no consensus as to whether it is always needed and which of the tests need to be performed. The objective of this study was to investigate the diagnostic significance of confirmatory tests in PA. In group A, 120 hypertensive patients who had positive case detection using the aldosterone to renin ratio (ARR) were subjected to at least one confirmatory test: the captopril challenge test (CCT), furosemide upright test (FUT), or saline infusion test (SIT). Among group A, 57 patients underwent all three confirmatory tests (group B), and 57 patients were differentiated as having either unilateral or bilateral PA based upon adrenal venous sampling, adrenal scintigraphy, and/or adrenal surgery (group C). The percentages of patients with positive CCT and FUT were 86 and 87% in group A, 88 and 88% in group B, and 96 and 94% in group C, respectively. The percentage of patients with positive SIT results was lower than that with other tests (P < 0.01). The percentage of patients with positive results for the three tests was higher in patients with baseline ARR of at least 1000 or plasma aldosterone concentration (PAC) of at least 250 pg/ml than in those with lower ARR or PAC in all three groups. Most patients with positive case detection also had positive results on the CCT and FUT, especially when ARR was at least 1000 or PAC was at least 250 pg/ml under renin suppresion. Confirmatory testing for PA may not be needed in all patients with positive case detection.
    The Journal of clinical endocrinology and metabolism 03/2012; 97(5):1688-94. · 6.50 Impact Factor
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    ABSTRACT: Toxic adenoma and toxic multinodular goiter (TMNG) are common causes of hyperthyroidism in iodine-deficient regions, but they are relatively rare in iodine-sufficient regions, including Japan. Constitutive activating mutations of the thyroid stimulating hormone receptor (TSHR) gene and adenylate cyclase-stimulating G α protein (GNAS) gene are frequent in these thyrotoxic disorders. Here we report two cases of rare TSHR gene mutations in Japanese thyrotoxicosis patients. In Case 1, we observed multiple toxic nodules with thyrotoxicosis, and in Case 2, we detected a solitary toxic nodule in an 8-year-old girl. In both cases, ultrasonography showed thyroid nodules and scintigraphy revealed increased uptake. Total thyroidectomy was performed for Case 1 and a hemi-thyroidectomy was performed for Case 2. Genetic analysis of the resected tissues revealed an I568F mutation in Case 1 and a S281I mutation in the TSHR gene in Case 2. The I568F mutation was located in the second extracellular loop, and the S281I mutation was located in the N-terminal extracellular domain of the TSH receptor. In Case 1, the mutation was restricted to the largest nodule, and was not detected in other functioning nodules or non-nodule thyroid tissue. Bi-allelic expression of the TSHR gene was confirmed by reverse transcription-polymerase chain reaction in both tumors. Both the I568F and S281I mutations were studied previously in vitro, and were revealed to cause basal activation of the protein kinase A pathway. Case 1 represents the second reported case of an I568F mutation and Case 2 represents the third reported case of an S281I mutation.
    Endocrine Journal 01/2012; 59(1):13-9. · 2.23 Impact Factor
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    ABSTRACT: Adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas are sometimes difficult to visualize, even with high-quality magnetic resonance imaging, due to their small size and variable location. Sampling the cavernous or inferior petrosal sinus is helpful for confirming the central origin of a tumor, but ectopic corticotroph adenomas in the paraseller region also typically exhibit a high central/peripheral plasma ACTH ratio. We experienced an extremely rare case of Cushing’s disease caused by an ACTH-secreting microadenoma located entirely inside the left cavernous sinus attached to the medial wall (ectopic pituitary adenoma) that was not visible by preoperative MRI. In this case, the microadenoma was completely removed and an endocrinologic cure was achieved. This case reveals that in addition to meticulous sectioning of the pituitary gland, bilateral periglandular inspection with visualization of the medial wall of the cavernous sinus and of the diaphragm should always be performed to detect ectopic parasellar microadenomas when no adenoma is visible by preoperative MRI. KeywordsCushing’s disease–Ectopic–Intracavernous sinus–Surgery
    Pituitary 09/2011; 14(3):295-298. · 2.67 Impact Factor
  • Nippon rinsho. Japanese journal of clinical medicine 03/2011; 69 Suppl 2:15-25.
  • Internal Medicine 01/2010; 49(2):201-2. · 0.97 Impact Factor
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    ABSTRACT: To evaluate the prevalence of dyslipidemia in the population of Hashimoto thyroiditis, we reviewed medical records on the consecutive 1181 cases with adult Hashimoto thyroiditis and 830 cases were adopted for the study. First, the serum TSH level increased and serum free T4 level decreased, slightly but significantly, with increasing age. There were significant positive correlations between serum TSH levels and lipid parameters such as total cholesterol (TC), triglyceride (TG), HDL-cholesterol (HDL-C), LDL-cholesterol (LDL-C), non-HDL-C and LDL-C/HDL-C ratio (L/H). In contrast, there were significant negative correlations between serum free T4 levels and all of these lipid parameters. According to the thyroid function, the cases were classified into 4 groups such as thyrotoxicosis (TT), euthyroidism (EU), subclinical hypothyroidism (SH) and overt hypothyroidism (OH). TC, HDL-C, non-HDL-C and LDL-C of TT were significantly lower than those in EU. In contrast, TC, TG, non-HDL-C, LDL-C, L/H and age of OH were significantly higher than those in EU. Interestingly, LDL-C and L/H of SH were significantly higher compared with EU. Thirty-two of SH patients were treated with small doses of levothyroxine and the effects on the lipid profile were examined. The TC, non-HDL-C, LDL-C and L/H were significantly decreased after treatment. In conclusion, the prevalence of dyslipidemia increases along with hypofunction of the thyroid and T4 replacement therapy may improve lipid profile in the cases of SH with Hashimoto thyroiditis.
    Endocrine Journal 01/2010; 57(3):253-8. · 2.23 Impact Factor
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    ABSTRACT: It has been estimated that approximately 10% of pheochromocytomas and paragangliomas are part of a hereditary syndrome. Recent studies, however, suggest that the genetic involvement in pheochromocytoma/paraganglioma is actually far more common. Here, we report a case of malignant paraganglioma with no apparent family history. A 59-year-old man was referred to our services because of multiple abdominal masses. Plasma and urine adrenalin and noradrenalin levels were slightly elevated, and plasma dopamine and urine vanillylmandelic acid levels were remarkably elevated. Abdominal and chest computed tomography revealed multiple masses in the para-aortic region and in both lungs. Although (131)I-meta iodobenzylguanidine scintigraphy did not show significant uptake in these tumors, a 6-[(18)F]fluorodeoxyglucose positron emission tomographic scanning study showed multiple areas of uptake corresponding to the tumors. Biopsy of the tumors revealed paraganglioma with chromogranin A-immunopositive cells. Genetic analysis indicated a nonsense mutation at codon 27 of the SDHB gene. As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case.
    Endocrine 06/2009; 36(1):10-5. · 2.25 Impact Factor
  • Clinical Endocrinology 09/2008; 70(4):656 - 657. · 3.40 Impact Factor

Publication Stats

20 Citations
26.97 Total Impact Points

Institutions

  • 2013
    • National Hospital Organization Minami Kyoto Hospital
      Kioto, Kyōto, Japan
  • 2009–2013
    • Kyōto Medical Center
      Kioto, Kyōto, Japan
  • 2010
    • Kyoto Medical Center
      Kioto, Kyōto, Japan