• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.120-125
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• 2013

Purpose: McCune-Albright syndrome (MAS) is caused by activating mutations in the GNAS gene, resulting in peripheral precocious puberty, caf$\acute{e}$-au-lait spots, and polyostotic fibrous dysplasia (POFD). The aim of the present study was to describe the diverse clinical and endocrine characteristics of patients with MAS. Methods: Seven patients with MAS were included in this study and medical charts were reviewed retrospectively for following parameters: patient's sex and age at diagnosis, POFD, ovarian cysts, and precocious puberty. Results: The mean age at diagnosis was $5.8{\pm}4.2$ years. One patient was male (14%) and the other six patients were female (86%). Peripheral precocious puberty was associated with 6 patients (86%). Five patients manifested premature menarche as early as 2 to 5 years of age. Letrozole was administered to 4 patients, tamoxifen to one patient and GnRH agonist to one patient. Five females developed ovarian cysts. Thyroid function tests were performed in all patients and one patient showed hyperthyroidism (14%) and has been treated with methimazole. One patient presented with pseudohypoparathyroisdism, phosphaturia, calciuria suggesting hypophosphatemic rickets. Six patients (86%) revealed POFD. One patient had symptoms of optic nerve compression and secondary esotropia and 2 patients had bone pain. Conclusion: This study described clinical characteristics and endocrine complications of patients with MAS. Careful physical examinations with history taking and serial endocrine function tests should be needed to detect complications such as endocrinologic hyperfunction and POFD.

• The Korean Journal of Nuclear Medicine
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• v.15 no.1
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• pp.1-11
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• 1981

To evaluate the diagnostic accuracy of the measurement of free thyroxine (FT4) by radioimmunoassay, we measured free $T_4\;and\;T_4,\;T_3,\;T_3RU$, TSH and TBG serum levels by radioimmunoassay in 18 healthy persons and 52 patients with various thyroid diseases and 11 normal pregnant women. The results are as follows. 1. In 19 cases of overt hyperthyroidism, $T_3,\;free\;T_4$ and FTI, $T_4/TBG$ ratio reflect hyperfunction in all cases. $T_4$ is increased in 94% (18/19) and TBG and TSH are decreased in 79% (15/19). 2. In 8 patients with overt hypothyroidism, TSH is increased in all cases and free $T_4$ and FTI is decreased in all cases. $T_4$ is decreased in 87.5% (7/8), $T_3$ is decreased in 75% (6/8) and $T_4/TBG$ ratio is decreased in 62.5% (5/8). 3. In 5 patients who are clinically in euthyroid state after treatment of hyperthyroidism, $T_4,\;free\;T_4$, FTI and TSH are in the normal range in all cases and $T_3$ is normal in 60% (3/5) and slightly increased in 40% (2/5). 4. In 10 patients who showed clinically borderline hypothyroidism after treatment of hyperthyroidism, TSH is increased in all cases and free $T_4$ and FTI are decreased in all cases, but $T_4\;and\;T_3,\;T_4/TBG$ ratio are in the normal limit in all cases. So after treatment of hyperthyroidism, TSH, free $T_4$ or FTI are recommended as optimal thyroid function test. 5. In normal pregnancy, free $T_4$, FTI and $T_4/TBG$ ratio reflect normal function, but the other parameters revealed unreliable due to the influence of increased TBG. Also TBG and TSH level in pregnancy is increased significantly compared with normal healthy control group. 6. The coefficients of correlation between free $T_4$ and FTI were 0.862 (p<0.001) and 0.685 (p<0.001) between free $T_4\;and\;T_4/TBG$ ratio. In most patients, diagnostic value of free $T_4$ was comparable and even superior to FTI, so free $T_4$ measurement can be used routinely with thyrotropin assay in the diagnosis of hypothyrodism or with $T_3$ for the diagnosis of hyperthyroidism.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.20 no.1
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• pp.63-67
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• 2009

Background and Objectives: In patients with asthma, increased obstruction and resistance of airway result in impairment in the generation of voice. Allergy and nasal polyposis, which are frequently observed in patients with asthma, are other factors that affect the vocal performance. Bronchodilators and steroids are commonly used in the treatment of asthma, and these agents also have been reported to be associated with voice changes. The aim of this study is to evaluate the voice quality in patients with mild to-moderate asthma by subjective and objective methods. Materials and Methods: A total of 36 patients with asthma established in the Department of Respiratory Medicine were included in this study. 23 were women and 13 were men, with a mean age of 51.7 years. The average duration of asthma was 77.0 months. All patients had mild-to moderate asthma. Acoustic and aerodynamic analyses were performed and the movements of the vocal cords were examined by videolaryngostroboscopy (VLS). Voice Handicap Index (VHI) and GRABS scales were used for subjective evaluations. Results: 50% of patients suffered from dysphonia and FO was 119.3${\pm}$23.7 Hz in male and 198.2${\pm}$18.4 Hz in female patients. There were no significant differences in average shimmer and NHR between females (4.90${\pm}$2.95% ; 0.1O${\pm}$0.04 dB) and males (4.64${\pm}$2.45% ; 0.20${\pm}$0.15 dB). However, the value of jitter was greater for females (2.60${\pm}$1.92%) than for males (1.21${\pm}$0.84%). The VHI score was above the normal limit in 35%, and VLS findings were shown diverse abnormality in 89% asthmatics from mucosal change to hyperfunction of supragottis and contact granuloma. But duration of illness and steroid dose did not correlate with these findings. Conclusion: Subjective and objective abnormality was shown in more than 50% of asthmatic patients. We suggest that persons who suffer from asthma should be examined for possible voice disorders by laryngologist. Additionally, appropriate medical care and voice therapy should be provided for those who have voice disorders associated with asthma.

• Korean Journal of Radiology
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• v.23 no.2
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• pp.218-225
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• 2022

Objective: This study aimed to explore the feasibility of functional evaluation of the lateral pterygoid muscle (LPM) using diffusion tensor imaging (DTI) in patients with temporomandibular joint disorders (TMDs). Materials and Methods: A total of 119 patients with TMD (23 male and 96 female; mean age ± standard deviation, 41 ± 15 years; 58 bilateral and 61 unilateral involvements for a total of 177 joints) and 20 healthy volunteers (9 male and 11 female; 40 ± 13 years; 40 joints) were included in this prospective study. Based on DTI of the jaw in the resting state, the diffusion parameters, apparent diffusion coefficient (ADC), fractional anisotropy (FA), λ1, λ2, and λ3 of the superior and inferior heads of the LPM (SHLPM and IHLPM) were measured. Patients with TMD with normal disc position (ND), anterior disc displacement with reduction (ADWR), and anterior disc displacement without reduction (ADWOR) were compared. Results: Patients with TMD overall, and ADWR and ADWOR subgroups had significantly higher ADC, λ1, λ2, and λ3 in both the SHLPM and IHLPM than those in volunteers (p < 0.05 for all), whereas the ND subgroup only had significantly higher ADC and λ1 (p < 0.001). Meanwhile, significant differences in FA in the SHLPM and IHLPM were found between volunteers and ADWOR (p = 0.014 and p = 0.037, respectively). Among the three TMD subgroups, except for λ3 and FA in the ADWR subgroup, ADWR and ADWOR subgroups had significantly higher ADC, λ1, λ2, and λ3 and lower FA than those in the ND group (p < 0.050). There was no significant difference in diffusion variables between ADWR and ADWOR. In ADWOR, the osteoarthritis group had significantly higher λ3 and lower FA values in the IHLPM than those in the non-osteoarthritis group. Conclusion: DTI successfully detected functional changes in the LPM in patients with TMD. The unsynchronized diffusivity changes in the LPM in different subgroups of TMD signified the possibility of using diffusion parameters as indicators to identify the severity of LPM hyperfunction at various stages of TMD.

• The Korean Journal of Nuclear Medicine
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• v.30 no.1
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• pp.65-76
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• 1996

In order to evaluate the significance of thyrotropin-binding inhibiting immunoglobulin (TBII) in the patients with autoimmune thyroid diseases, the authors investigated 402 cases of Graves' disease and 230 cases of Hashimoto's thyroiditis comparing 30 cases of normal healthy adult at Kyung Pook University Hospital from February 1993 to August 1994. The TBII was tested by radioimmunoassay and assesed on the dynamic change with the disease course, thyroid functional parameters, and other thyroid autoantibodies : antithyroglobulin antibody (ATAb) and antimicrosomal antibody (AMAb) including thyroglobulin. The serum level of TBII was $40.82{\pm}21.651(mean{\pm}SD)%$ in hyperthyroid Graves' disease and $8.89{\pm}14.522%$ in Hashimoto's thyroiditis and both were significant different from normal control of which was $3.21{\pm}2.571%$. The frequency of abnormally increased TBII level was 92.2% in hyperthyroid Graves' disease, 46.7% in euthyroid Graves' disease or remission state of hyperthyroidism, and 23.9% in Hashimoto's thyroiditis. The serum levels of increased TBII in Graves' disease were positively correlated with RAIU, serum T3, T4, and FT4, but negatively correlated with serum TSH(each P<0.001). The TBII in Graves' disease had significant positive correlation with serum thyroglobulin and AMAb, but no significant correlation with ATAb. In the Hashimoto's thyroiditis, the serum levels of TBII were positively correlated with RAIU, serum T3, TSH and AMAb, but not significantly correlated with serum T4, FT4, thyroglobulin and ATAb. Therefore serum level of TBII seemed to be a useful mean of assessing the degree of hyperthyroidism in Graves' disease and correlated well with thyroidal stimulation. The serum level of TBII in Hashimoto's thyroiditis is meaningful for the degree of both functional abnormality reflecting either hyperfunction or hypofunction and the immune logic abnormality.