Biomedical subjects

Y Saio

Publications and source records attributed to Y Saio.

5 recordsLinked to original sources

PubMed1998

Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

BACKGROUND: Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperparathyroidism. MEN 2 is caused predominantly by germ-line mutations of the RET proto-oncogene. This study aimed to clarify the genotype-phenotype correlation in MEN 2 patients in Japan in order to modify the clinical management according to the genotype. METHODS: Constitutive DNA of 64 MEN 2 patients (48 kindreds) were searched for mutations at exons 10, 11, 13, 14 and 16 of the RET proto-oncogene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), direct sequencing and restriction enzyme digestion. The clinical characteristics of the patients were obtained from a previous nationwide questionnaire survey. RESULTS: Overall, 62 (96.9%) out of 64 patients had a germ-line point mutation at the hot spots. MTC and pheochromocytoma occurred equally in every genotype except C630S. Specific genotype had a correlation between tumor size and age at the operation for MTC or extent of MTC, i.e. C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. Small MTC in C634R may be less aggressive than those in C634Y and M918T. CONCLUSIONS: DNA testing has good clinical implications for the management of patients with MEN 2 and the timing and operative procedures of thyroidectomy can be modified according to the genotype.

Adrenal Gland Neoplasms↗

PubMed1998

Recurrent hemithyroiditis: a case report.

We report on a girl with recurrent painful thyroiditis which involved the entire right thyroid lobe, but did not spread to the left thyroid lobe. She occasionally developed pain and swelling of the right side of the neck following symptoms of common cold over several years. During these attacks, the right thyroid lobe was enlarged, tender, and very soft, while the left thyroid lobe was not remarkable. Ultrasonic examination revealed that the entire right thyroid lobe was hypoechoic, but the entire left lobe was normal echoic. Serum C-reactive protein, white blood cell count, and erythrocyte sedimentation rate were increased during the attacks. The thyroiditis responded quickly to treatment with prednisolone and/or anti-inflammatory drugs, but the thyroiditis may have subsided spontaneously since the signs and symptoms of thyroiditis had subsided with only antibiotic therapy. After resolution of the thyroiditis, the echogenicity of the right lobe returned to near normal and the inflammatory findings became negative. During the investigation, thyroid function was normal except for when the thyroiditis was first diagnosed at another hospital with a serum TSH level of 0.1 mU/l. Serum thyroglobulin level was increased but returned to normal or decreased during and after attacks of thyroiditis. The mechanism(s) of the recurrent hemithyroiditis remains unknown, but the underlying disease appeared to be chronic thyroiditis since tests for anti-microsomal or anti-thyroid peroxidase antibodies were consistently positive during the course of her illness. The changes in the titers of these antibodies were not clear during and after the attacks of thyroiditis. In addition, the clinical course suggests that the present hemithyroditis can be induced by recurrent upper respiratory infection.

Adolescent↗

PubMed1997

A case of Graves' disease associated with painful thyroiditis.

We report on a 61-year-old woman with untreated Graves' disease associated with painful thyroiditis. On examination, the left lobe of the thyroid gland was firm and tender but the right lobe was not. A diagnosis of Graves' disease was made based on the results of thyroid function tests including the percentage of thyroidal radioactive iodine uptake (RAIU) and the presence of thyroid-stimulating antibodies (TSAb). However, ultrasonogram results and inflammatory findings (C-reactive protein concentration and erythrocyte sedimentation rate) also indicated the presence of inflammation in the thyroid gland. She was first treated with aspirin, and later with prednisolone. Her clinical course was similar to that in cases of subacute thyroiditis, but neither her HLA type nor aspiration cytology findings indicated the type of thyroiditis. With the resolution of the thyroiditis, her serum levels of thyroid hormone and TSAb decreased, although RAIU increased. Finally, she became euthyroid without antithyroid drug treatment. The serum levels of antithyroid antibodies, TSH-binding inhibitor immunoglobulins (TBII) and TSAb increased transiently and then decreased during the course of the illness, indicating that the mechanism(s) of the production and/or degradation of TBII and TSAb is similar to that for antithyroid antibodies in the present case. The present findings also indicate that remission may occur in some patients with Graves' disease after painful thyroiditis is resolved.

Female↗

PubMed1996

Subacute thyroiditis with thyroid-stimulation blocking antibodies: a case report.

A 43-year-old female showing signs and symptoms of subacute thyroiditis was referred to our hospital for further evaluation of her thyroid function because TSH-binding inhibitor immunoglobulins (TBII) were detected in her serum. A diagnosis of subacute thyroiditis was made based on high levels of thyroid hormones with suppressed TSH level, suppressed radioactive iodine uptake (RAIU), and positive inflammatory findings and ultrasonogram results. She was at first thyrotoxic, then transiently hypothyroid, and finally became euthyroid. The assay results for TBII and thyroid-stimulation blocking antibodies (TSBAb) were positive in the thyrotoxic phase, and the TBII and TSBAb activities were decreased and finally became undetectable during the course of her illness. In contrast, the assay results for thyroid-stimulating antibodies (TSAb) were negative throughout the investigation period. The presence of TSBAb may have induced the development of hypothyroidism because she became euthyroid after the disappearance of TSBAb from the serum, but the duration of the hypothyroid phase was the same as that in typical cases of subacute thyroiditis. Inflammatory or destructive changes in the thyroid gland are thought to be involved in the production of the TSH-receptor antibodies in the patient.

Adrenergic beta-Antagonists↗

PubMed1995

Transient hypothyroidism in a case of untreated Graves' disease.

We report the case of a 41-year-old female with untreated Graves' disease who developed transient hypothyroidism. The hypothyroid state was thought to be caused by silent thyroiditis, based on findings of a non-tender thyroid gland, suppressed thyroidal radioactive iodine uptake, normal white blood cell count and normal erythrocyte sedimentation rate, and ultrasonogram results. Silent thyroiditis may play a role in the development of Graves' hyperthyroidism. Results for TSH-binding inhibitor immunoglobulins (TBII), thyroid-stimulating antibodies (TSAb), anti-thyroglobulin antibodies (TgAb) and anti-thyroid peroxidase antibodies (TPOAb) were positive before the development of hypothyroidism. Their levels were decreased during and after the hypothyroid phase. These results suggest that the same or similar mechanism(s) were involved in the production of these different antibodies during the course of her illness.

Adult↗