• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.1-4
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• 2016

Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.

• Korean Journal of Head & Neck Oncology
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• v.31 no.1
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• pp.14-17
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• 2015

Castleman's disease is an uncommon lymphoproliferative disorder. The disorder can be classified based on histological subtype, such as hyaline vascular type, plasma cell type, and mixed type, and can also be clinically divided into either unicentric or multicentric type. Its exact pathophysiology is not clearly identified. The unicentric type is able to be treated by surgical resection. However, there is no standard treatment modlity for the multicentric type. Treatment of multicentric type includes anti-cancer chemotherapy and radiation therapy. Recently, authors have experienced a rare case of unicentric type of Castleman's disease accompanying a mucoepidermoid carcinoma of parotid gland and report a case which is discussed with references.

• Women's Health Nursing
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• v.9 no.4
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• pp.379-389
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• 2003

Purpose: To identify the type of disease-related stress experienced by women who received mastectomy for breast cancer using Q methodology. Method: Q sample included 30 statements obtained from literature and interviews with women with mastectomy. P sample consisted of 22 patients with mastectomy. The data were collected from November to December 2002 and analyzed using QUANL program. Result : Four types of disease-related stress experienced by women with mastectomy were found. Type 1 was manifested for a short duration following surgery and characterized by lowered self-esteem, feelings of emptiness and depression because of impaired body image. Type 2 was characterized by declined physical strength, resulting in frequent fatigue in the daily life and less intimate relationship with spouse. Type 3 was manifested by perfectionists with strong sense of self-pride who received or considered breast reconstruction surgery. Type 4 was reported by those who had long period of post-surgery. This type reported a strong sense of discomfort for wearing an artificial breast but didn't show any intention of trying breast reconstruction surgery. Conclusion: Women with mastectomy were found to experience different type of disease-related distress. Therefore, nurses should assess the type of stress the patient experiences following a mastectomy to provide appropriate nursing care.

• Journal of Sasang Constitutional Medicine
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• v.21 no.2
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• pp.96-106
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• 2009

1. Objectives : The aim of this study was to survey the ordinary symptoms of TE type(Tae-eumin) and to compare the tendency of their symptoms according to the Exterior- or Interior- disease. 2. Methods : We recruited 659 TE type(Tae-eumin)-subjects in multi-oriental hospitals and researched their ordinary symptoms. Subjects were diagnosed by the Sasang Constitutional specialists in oriental hospitals, and had remarkable improvement in the chief complains after Sasang Constitutional Medication. Subjects were divided two groups. One group had the Exterior-cold disease and they took the prescription for the Exerior-cold disease(such as Taeumjowi-tang, Jowiseungcheong-tang, Nocyongdaebo-tang etc.). The other group had the Interior-febrile disease and they took the prescription for the Interior-febrile disease(such as Galgunhaegui-tang, Yeoldahanso-tang, Cheongsimyeonja-tang, Gongjinhugwon-dan etc.). All subjects answered the questionnaire about their symptoms. We found the differences of answers using the Chi-square test between-group comparisons. We analyzed using SPSS 12.0 for Korean. 3. Results and Conclusions : In symptoms, Quantity of meal(p=.009), Perspiration of head and face(p=.001), Aspect of Excrement(p=.027), Presence of pain after excrement(p=.001), Frequency of urination at night(p=.003), Clarity of urine(p=.041), Sleep during the day(p=.049), Warm or cold feeling on abdomen(p=.007), etc. are different according to the Exterior- or Interior- disease. We found the differences of symptoms between not only the constitutional types but also the types of disease.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.20 no.2
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• pp.131-135
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• 2009

Background and Objectives: Benign vocal fold lesions have shown various voice onset types on phonation, however, they have not been documented yet. We studied to know the relationships between benign vocal fold lesions and voice onset types. Materials and Method: 114 subjects were evaluated by using videokymographic examinations. The subjects were classified into three types: normal, contact, and open types according to the patterns of voice onset types on phonation. Benign vocal fold lesions were investigated and voice onset types were compared between normal and disease groups. Voice parameters were obtained from and compared in all subjects to assess acoustic and aerodynamic factors. Results: The normal type among onset types were more than contact type or open type in both normal and disease groups. Disease group showed many contact and open types when. compared with normal group. Vocal nodule and vocal polyp were showed many normal and contact types, however, sulcus vocalis was almost showed open type among voice onset groups. The values of mean flow rate (MFR) of contact type were significantly higher compared to normal type in disease group (p<0.05). Shimmer of contact type was higher than normal type in diseasegroup, but the difference was not significant (p=0.057). Conclusion: Benign vocal fold lesions were related to the various types of voice onset. The various types of voice onset should be considered when benign vocal fold lesions were examined.

• Tuberculosis and Respiratory Diseases
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• v.42 no.2
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• pp.218-225
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• 1995

Background: Airway resistance(Raw) is measured with the body plethysmograph by displaying the relationship between airflow and alveolar pressure($V/P_A$). If the resistance curve on $V/P_A$ tracing is curved or looped, the estimation of Raw is difficult. This study was designed to examine wheather there is any correlation between the shape of resistance curve and the clinical status and the pulmonary function of patients. Methods: The 146 pulmonary disease patients with increased Raw were included in this study. The shapes of resistance curves on $V/P_A$ tracing with body plethysmograph during quiet breathing were analyzed and compared with pulmonary function. Results: The results were as follows ; 1) The shapes of resistance curves were summarized in 5 categories; type 1: linear, type 2: ovoid, type 3: sigmoid, type 4: scoop, type 5: paisley. The type 3 except 1 case, type 4 and type 5 were found to have loop mainly in expiratory phase. 2) Although the shapes of resistance curves were not typical for specific disease, the resistance curves of acute disease tended to belong to type 1 or 2 and those of chronic airflow obstruction tended to belong to type 3, 4 or 5. But resistance curves of bronchial asthma and destructive lung with tuberculosis showed all types in proportion to degree of airflow obstruction or destruction of parenchyme. 3) In the cases of resistance curves going to type 5 rather than type 1 and those with looping, airflow obstuction tended to be severe and airway resistance and residual volume tended to increase. Conclusions: Analysis of resistance curve on $V/P_A$ tracing measuring airway resistance is helpful for judging degree of airflow obstruction and air trapping. Although the shape of resistance curve is not typical for specific disease, there is a close association between looping and airway obstruction.

• Archives of Plastic Surgery
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• v.47 no.1
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• pp.83-87
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• 2020

Extramammary Paget disease (EMPD) is an uncommon malignancy that occurs in apocrine gland-rich areas of the body. EMPD of the axilla is rare, but a few cases have been reported. Some cases of EMPD have been reported with underlying apocrine adenocarcinoma; rarely, mammary-type ductal carcinoma can accompany EMPD. Here, we report a very rare case of EMPD with apocrine adenocarcinoma and invasive mammary-type ductal carcinoma. A 55-year-old woman was referred with a brownish pigmented plaque accompanying an area of ulceration in the left axilla. A preoperative biopsy indicated Paget disease, and an additional evaluation was performed to determine whether it was of primary or secondary origin. A wide excision was made, and the axilla was reconstructed using a thoracodorsal artery perforator flap. The biopsy showed apocrine adenocarcinoma and invasive mammary-type ductal carcinoma with pagetoid spreading. The patient had no evidence of recurrence or other postoperative complications.

• Journal of Physiology & Pathology in Korean Medicine
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• v.22 no.3
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• pp.540-541
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• 2008

The aim of the present study is to determine clinical efficacy and adverse reaction of yugan-tang. We compared symptoms and liver function test results of 160 patients with damp-heat type liver disease in before and after taking yugan-tang. The patients took 200ml yugan-tang two times daily for three months. Then we analyzed these datas statistically. The overall therapeutic effect was "markedly improved" in 70 of 160 patients (43.75%) and "improved" in 75 of 160 patients (46.88%). yugan-tang markedly improved damp-heat type liver disease, especially jaundice, abdominal distention, hypochondriac pain, nause, vomiting and anorexia. Alanine aminotransferase (ALT) level and total bilirubin (TBIL) level were within normal limits at baseline. But albumin-globulin ratio (A/G) level was not changed markedly. I think that yugan-tang is worth applying widely to clinic.

• BMB Reports
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• v.34 no.1
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• pp.1-7
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• 2001

Structural and physical properties of type wild type and various selected mutants of the vnd/NK-2 homeodomain, the protein product of the homeobox, and the implication in genetic disease are reviewed. The structure, dynamics and thermodynamics have been Investigated by NMR and by calorimetry. The interactions responsible for the nucleotide sequence-specific binding of the homeodomain to its consensus DNA binding site have been identified. There is a strong correlation between significant structural alterations within the homeodomain or its DNA complex and the appearance of genetic disease. Mutations in positions known to be important in genetic disease have been examined carefully For example, mutation of position 52 of vnd/NK-2 results in a significant structural modification and mutation of position 54 alters the DNA binding specificity and amity The $^{15}N$ relaxation behavior and heteronuclear Overhauser effect data was used to characterize and describe the protein backbone dynamics. These studies were carried out on the wild type and the double mutant proteins both in the free and in the DNA bound states. Finally, the thermodynamic properties associated with DNA binding are described for the vnd/NK-2 homeodomain. These thermodynamic measurements reinforce the hypothesis that water structure around a protein and around DNA significantly contribute to the protein-DNA binding behavior. The results, taken together, demonstrate that structure and dynamic studies of proteins combined with thermodynamic measurements provide a significantly more complete picture of the solution behavior than the individual studies.

• The Journal of Internal Korean Medicine
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• v.30 no.3
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• pp.550-557
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• 2009

Objectives : The purpose of this study was to investigate the possibility of Bi-Su as a pattern identification (PI) index in stroke patients. Methods : The subjects were 424 hospitalized stroke patients within 1 month from onset and diagnosed with the same PI subtypes (dampness & phlegm, qi deficiency, fire & heat, eum deficiency, and blood stasis) by agreement of two clinical experts. Bi-Su type is a kind of body shape (Bi : fat, Su : lean). Bi-Su type and degree (Bi-Su score) were decided by clinical expert. Body mass index (BMI) and waist-hip ratio (WHR) were used as an obesity index. Correlation analysis between Bi-Su score and obesity index (Spearman) and variance analysis for Bi-Su score, BMI, and WHR among PI subtypes (ANOVA) and sex were carried out. Results : While there was partial correlation between Bi-Su type and BMI($r^2$=0.634, p<0.001), the distribution of the BMI group based on the Bi-Su group showed the broadest range. The Bi-Su score in the dampness & phlegm group was higher than in the other groups (p<0.001). BMI in the dampness & phlegm groups was also higher but the BMI differences among PI subtypes was low (p=0.002). The Bi-Su score in the dampness & phlegm group was similar in both sexes, although the hand score in the eum deficiency group was the lowest, especially in males. Conclusions : Although BMI is not an objective enough tool for evaluating Bi-Su type, Bi-Su type is more appropriate than BMI as PI index. Therefore Bi-Su type could be used as one of the PI indices for dampness & phlegm or eum deficiency group in stroke patients.