Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P).

Familial dysalbuminemic hyperthyroxinemia (FDH) is a familial autosomal dominant disease caused by mutation in the albumin gene that produces a condition of euthyroid hyperthyroxinemia. In patients with FDH, serum-free thyroxine (FT4) and free triiodothyronine (FT3) concentrations as measured by several commercial methods are often falsely increased with normal thyrotropin (TSH). Therefore, several diagnostic steps are needed to differentiate TSH-secreting tumor or generalized resistance to thyroid hormone from FDH.

[A case of liver metastasis of primary duodenal cancer effectively treated with docetaxel therapy].

A 75-year-old man who complained of upper abdominal discomfort was diagnosed with primary duodenal cancer. The patient was treated with a pancreaticoduodenectomy, ascending colectomy and postoperative chemotherapy of S-1 and irinotecan[IRIS; S-1, 80mg/m2(days 1-14); irinotecan, 100 mg/m2(days 1 and 15, every 4 weeks)]. However, after 4 IRIS cycles, computed tomography revealed a liver metastasis and massive ascites.

Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide organification, and dyshormonogenetic goiter. Several cases of Pendred syndrome with follicular thyroid carcinomas were reported previously. Here we report identical twin patients with Pendred syndrome, who had thyroid tumors with distinct histopathological findings.

Prediction of late (24-hour) radioactive iodine uptake using early (3-hour) uptake values in Japanese patients with Graves' disease.

Measurement of 24-hour radioactive iodine uptake (RAIU), which is commonly used to calculate the dose of radioiodine (RI) therapy, cannot be accomplished in a single day. The purpose of this study was to predict 24-hour RAIU from 3-hour RAIU in Japanese patients with Graves' disease, and to investigate other factors that could be used to predict 24-hour RAIU. A total of 66 Japanese patients (14 men and 52 women; age, 17-83 years) with Graves' disease who had undergone both 3-hour and 24-hour ¹²³I RAIU measurements between January 2006 and September 2011 were included in this study.

ACTH response to desmopressin in a patient with acromegaly; expression of corticotropin-releasing factor, urocortins and vasopressin V1b receptor in GH-producing pituitary adenoma.

GH-producing pituitary adenomas frequently co-produce other certain anterior pituitary hormones, such as prolactin (PRL). In contrast, GH-producing adenomas which express all of corticotropin-releasing factor (CRF), urocorin1 (Ucn1) and urocortin3 (Ucn3) have not been reported. A 39-year-old woman was admitted for evaluation of the pituitary tumor.

Adherence to the standard dose of imatinib, rather than dose adjustment based on its plasma concentration, is critical to achieve a deep molecular response in patients with chronic myeloid leukemia.

The correlation between imatinib (IM) trough plasma concentration (Cmin) and clinical response was assessed in patients with chronic-phase chronic myeloid leukemia. The Cmin correlated with neither the achievement of complete cytogenetic response (977 vs. 993 ng/ml, P = 0.

Sunitinib-induced thyrotoxicosis followed by persistent hypothyroidism with shrinkage of thyroid volume.

Sunitinib, a tyrosine kinase inhibitor, has been approved for the treatment of cancers, such as advanced renal cell carcinoma (RCC). On the other hand, sunitinib treatment is known to induce thyroid dysfunction in a substantial proportion of patients treated for advanced RCC; in fact, hypothyroidism is a frequent complication. However, little is known about sunitinib-induced thyrotoxicosis and destructive thyroiditis.

Acromegaly with normal IGF-1 levels probably due to poorly controlled diabetes mellitus.

Acromegaly is characterized by the somatic disfigurement and excessive production of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). Here we report a patient with aromegaly and diabetes mellitus, who showed normal IGF-1 levels in spite of elevated GH levels. The patient was a 52-year-old woman with acromegalic manifestations.

Detection of minimal residual disease in cerebro-spinal fluid of a patient with acute myelogenous leukemia with t(16;21)(p11;q22) translocation by reverse transcriptase-polymerase chain reaction.

We describe a patient with acute myelogenous leukemia (AML) with t(16;21)(p11;q22) translocation, whose minimal residual disease (MRD) both in cerebrospinal fluid (CSF) and bone marrow (BM) was monitored by reverse transcriptase-polymerase chain reaction (RT-PCR). A TLS/ERG-FUS fusion transcript, which is known to be expressed by t(16;21)(p11;q22) translocation, was detectable by RT-PCR both in BM and CSF cells in the first complete remission, suggesting the existence of MRD. The disease relapsed 6 months after its onset and allogeneic peripheral blood stem cell transplantation (PBSCT) was undergone.

[Establishment and characterization of human neuroblastoma cell line (HSNB)].

We cultured an aspiration fluid of the sternal bone marrow of the patient having adrenal neuroblastoma and established a neuroblastoma cell line (HSNB). The HSNB line has the following biological properties. 1.

[Establishment and characterization of a human malignant schwannoma cell line (HKMS)].

The malignant schwannoma cell line (HKMS) was established from the subcutaneous tumor of Axilla region of a 48-year-old Japanese woman. The HKMS line has the following biological properties. 1.

[Establishment and characterization of a human malignant fibrous histiocytoma line serially transplanted in nude mice].

Serial heterotransplantation of human malignant fibrous histiocytoma (MFH) derived from tibia was attempted in BALB/c nu/nu mice, and HKMFH-nu transplantable tumor line was established. This line had the following biological properties. (1) Eighteen serial passages were carried out in 41 months.

[Heterotransplantability of human anaplastic thyroid carcinoma line (HOTHC) in nude mice, and biological properties of the heterograft].

The heterotransplantability of HOTHC line (human anaplastic thyroid carcinoma) into the subcutis of BALB/c nude mice and the biological properties of grafts were discussed. (1) The HOTHC line showed high transplantability, and 1 x 10(4) cells produced anaplastic carcinoma (giant cell type) containing the colloid-like substance. (2) The grafted tumors grew rapidly and the mice were dead within 2 months after transplantation.