• Tuberculosis and Respiratory Diseases
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• v.65 no.3
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• pp.207-211
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• 2008

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).

• Genomics & Informatics
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• v.9 no.3
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• pp.121-126
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• 2011

Osteoarthritis (OA) is the most common degenerative joint disorder in the elderly population. To identify OA-associated genetic variants and candidate genes, we conducted a genome-wide association study (GWAS). A total 3,793 samples (476 cases: wrist + knee and 3317 controls) from a community-based epidemiological study were genotyped using the Affymetrix SNP 5.0. An intronic SNP (rs4789934) in the TIMP2 (tissue inhibitor of metalloproteinase-2) showed the most significance with OA (odd ratio [OR] = 2.06, 95% confidence interval [CI] = 1.52-2.81, p = $4.01{\times}10^{-6}$). Furthermore, a poly-morphism (rs1352677) in the NKAIN2 ($Na^+/K^+$ transporting ATPase interacting 2) was suggestively associated with OA (OR = 1.43, CI = 1.22-1.66, p = $7.01{\times}10^{-6}$). The present study provides new insights into the identification of genetic predisposing factors for OA.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.3
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• pp.372-380
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• 2004

Cleidocranial dysplasia(CCD) is a congenital disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs. Skeletal abnormalities in CCD are delayed closure of cranial suture and fontanelle, presence of wormian bone and clavicle aplasia. And CCD has an effect on the long bones, phalanges, spine, pelvis, muscles, and central nervous system. Dental manifestations include retention of deciduous teeth, multiple supernumerary teeth, delayed or absent eruption of permanent teeth and formation of cysts around nonerupted teeth. But as a result in common with a lack of medical and physical disability patient may have no substantive complaint, there are many masticatory and psychological problem by absent eruption of permanent teeth after exfoliation of deciduous teeth. For this reason CCD is necessary fo early diagnosis and must be improvement of the patient's appearance as well as provision of a functioning masticatory mechanism by treatment of surgical removal of supernumerary teeth, followed orthodontically eruption of the natural permanent teeth at adequate time.

• The Journal of the Korea Contents Association
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• v.14 no.10
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• pp.818-828
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• 2014

The purpose of this study was to investigate targets to use measurement tools to communicate developed in Korea and factors consisting of questions, to examine how measurement tools to communicate applied for AAC subjects were. In the case of measuring language and communication skills targeting people with disabilities, aphasia was out of common, in the case of applying to different types of failures, it showed rare. While factors consisting of questions on measurement tools to communicate had many factors on communication limitations and many factors on impairments in body functions that limit communication, they didn't have a lot of factors on restrictions in participation caused by communication limitations and lots of environmental factors that serve as barriers or facilitators for communication. AAC intervention was applied in the order of physical disabilities, autistic disorder, mental retardation, developmental disabilities, communication disorders, although "PPVT-R", "REVT" were widely used as measurement tools to communicate used in AAC intervention experiment, there were much more cases of relying on observation than standardized tools. Based on the results, we discussed that the need of evaluating to provide ACC application and individualized education(IEP)'s grounds and the research on evaluation criteria and measurement questions should be tried.

• Clinical and Experimental Reproductive Medicine
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• v.36 no.1
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• pp.71-80
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• 2009

Objective: PCOS is one of the most common endocrine disorder affecting reproductive age women. It shows wide range of reproductive and metabolic manifestations. This study was to determine the differences of clinical and laboratory characteristics between adolescent and adult Korean Daegu Kyungpook PCOS patients. We also compared clinical and laboratory values of Korean PCOS patients to Turkish and American PCOS patients. Methods: 88 cases were diagnosed and enrolled as PCOS patients, based on 2003 Rotterdam criteria, who visited KNUH Reproductive Endocrinology division between Jan. 2000 and Apr. 2008. We retrospectively reviewed clinical characteristics, serum hormone levels, ultrasono-graphic findings. And we divided into 2 groups, adolescent and adult. We analyzed them with Chi-square test and Student's t-test statistically. Results: There were no statistically significant differences between adult and adolescent Korean PCOS patients. The prevalence of hyperandrogenism such as facial acne or hirsutism, obesity, and insulin resistance of Korean PCOS women was significantly lower than Turkish and American PCOS women. Conclusion: From the results of this study, we can suggest that it is sure that there are differences of clinical and laboratory characteristics of PCOS patients between races. Genetic background, dietary habits and life style affect the expression of clinical symptoms of PCOS. But we could not find out the difference between adolescent and adult PCOS patients of same race. It might be due to the limitation of small patient number and narrow range of age distribution. So, there must be large scale and multi-center and multi-regional study.

• Anxiety and mood
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• v.9 no.1
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• pp.31-37
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• 2013

Objective : The PDSQ is a brief and psychometrically strong self-report scale designed to screen for common DSM-IV Axis I disorders in clinical settings. In this study, the K-PDSQ was compared with the M.I.N.I.-Plus (Mini-International Neuropsychiatric Interview-Plus) for diagnostic validity and availability of the K-PDSQ as a part of standardization of the K-PDSQ. Methods : The 640 patients were evaluated with the K-PDSQ and the M.I.N.I.-Plus. Diagnosing with the M.I.N.I.-Plus, the diagnostic correspondence, administering time, sensitivity, specificity, ROC curve, and AUC of the K-PDSQ were evaluated. Results : For the diagnostic correspondence of the K-PDSQ, Cohen's kappa coefficient was .66 between the K-PDSQ and the M.I.N.I.-Plus. The administering time of the K-PDSQ was $18.2{\pm}11.80$ minutes. Both sensitivity and specificity of the K-PDSQ were higher: the mean sensitivity across 10 subscales of K-PDSQ was 86%; the mean specificity was 84%. All AUCs of each subscale were above .80, which were statistically significant. Conclusion : The K-PDSQ is valid and available as a diagnostic screening tool. It will be widely used in clinical settings for screening DSM-IV Axis I diagnosis because of its simplicity and high reliability.

• Journal of Veterinary Clinics
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• v.29 no.4
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• pp.344-347
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• 2012

Bilateral convergent strabismus with exophthalmus(BCSE) is an eye disorder affecting many cattle breeds worldwide. BCSE is the most common in cattle at various types of strabismus. Divergent strabismus is of relatively low incidence than convergent strabismus. This report is the to shown a case of convergent and divergent strabismus with unilateral in the exophthalmus in a heifer Holstein cow. A female Holstein calf born with congenital progressive divergent strabismus in right eye and convergent strabismus in left eye was tested. Ocular and blood examination, and activity were checked from the first week, 8 month, and 16 month after birth. The ocular examination includes general inspection, fixation reflex and menace response. The general inspection is checking the degree of deviation of both eyes from the normal visual axis, which was determined by the amount of sclera permanently visible in the temporal corner of the eye. The stage is divided into 4 stages depending on the degree of deviation. The right eye shown in stage 4 continues after birth and the left eye shown stage 2, stage 3 and stage 4 at 1 week, 8 month and 16 month after birth, respectively. In fixation reflex and Menace response, both eye balls showed a normal response at 1 week, 8 month and 16 month after birth. Blood count and serum chemistry test were performed, but a specific factor was not detected outside the reference range.

• Journal of Veterinary Clinics
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• v.34 no.4
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• pp.255-260
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• 2017

Ketosis has become a very common and important metabolic disorder that causes substantial economic loss in modern dairy herds. We determined the risk factors for ketosis and associations with some blood metabolite concentrations in dairy cows. Blood from 475 Holstein cows on four dairy farms was collected weekly until 4 weeks after calving to measure blood ${\beta}$-hydroxybutyrate (BHBA) concentrations using electronic handheld meters. Cows were grouped based on the BHBA concentration into two groups: a ketosis group (${\geq}1.2mmol/L$, n = 150) and a non-ketosis group (< 1.2 mmol/L, n = 325). Peripartum health status (dystocia, retained placenta, and metritis), cow parity, and calving season were recorded to identify the risk factors for ketosis. Serum albumin, total cholesterol (TCH), and haptoglobin concentrations were compared between sub-groups of cows selected from the ketosis (n = 92) and non-ketosis (n = 50) groups 1 week postpartum ($7.5{\pm}0.2days$). The farm influenced the incidence of ketosis (P < 0.05). Cows calved during summer tended to have a higher risk (odds ratio [OR]: 1.61, P < 0.1) of ketosis than cows calved during spring. Cows with parities of two (OR: 1.95, P < 0.05) and three or higher (OR: 2.55, P < 0.01) were at higher risk than primiparous cows. Cows with metritis had a higher risk (OR: 7.02, P < 0.0001) of ketosis than cows without metritis. Serum albumin and TCH concentrations were lower (P < 0.01) in the ketosis group than in the non-ketosis group, whereas haptoglobin concentration was higher (P < 0.05) in the ketosis group than in the non-ketosis group. In conclusion, our results indicate that farm, summer calving, parity greater than one, and postpartum disease (metritis) were risk factors for ketosis. In addition, lower serum albumin and TCH concentrations and higher haptoglobin concentration were also associated with the incidence of ketosis in dairy cows.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.37-42
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• 2017

Noonan syndrome is a relatively common genetic disorder which is autosomal dominant. Prevalence of Noonan syndrome is varying from 0.04% to 0.1%. It is characterized by distinctive facial features, chest deformity, short stature and congenital heart disease. Oral findings in patient with Noonan syndrome include high arched palate, dental malocclusion, articulation difficulties, and micrognathia. The purpose of this case report is to describe dental treatment of a children with Noonan syndrome. 5 year old boy with Noonan syndrome visited to the Seoul National University Dental Hospital for dental treatment. Due to need for close monitoring, concern about seizure and poor cooperation, we planned to perform the dental treatment under general anesthesia. Under general anesthesia, caries treatment was successfully performed and there was no postoperative complications related to general anesthesia. High arched palate was observed which is characteristic in Noonan syndrome.

• The Journal of Korean Academy of Prosthodontics
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• v.29 no.2
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• pp.285-294
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• 1991

The human temporomandibular joint as a ginglymoarthrodial one has much in common with the other synovial joints of the body, but it does possess an unique charachteristic in that it must accomodate the various occlusal relations of dentition during an end point of closure. For that reason, the movement of the condyle in the temporomandibular joint is susceptible to influences from the nature of occlusion. Undue loading to the temporomandibular joint can be applied on the occasion of premature contacts in centric relation, balancing side interferences, change of occlusal surfaces due to excessive attrition, loss of tooth. Such occlusal disharmonies in association with the systemic and emotional factors may give rise to the temporomandibular disorder. On the other hand, the changes of occlusal patterns in the growing body can also have an effect on the growth of the temporomandibular joint through the alterations of functional stresses. The purpose of this study was to observe histopathologic response of the temporomandibular joint in unilateral chewing on one side exclusively for 10 months. Three dogs showing normal masticatory function were chosen. One dog aged about 12 months was for control, two dogs for experimental specimens were about 12 and 18 months old respectively. For chewing on the left side only, unilateral lower right premolar and molar were extracted in two experimental specimens. And then three dogs were sacrificed 10 months later. Frontal histologic sectioning of joints were done for the observation of the effects of one-side chewing. 24 specimens from three dogs were obtained and fixed in 10% formalin and routinly processed with H-E staining for histologic examination. The light microscopic findings were interpretated as follows: 1. Experimental specimen 1 aged about 22 months: In comparison with control and right non-chewing side, the proliferative and hypertrophic zone were increased at the mesial and lateral part of left chewing side condyle. There was no change of the articular tissue of temporal bone. 2. Experimental specimen 2 aged about 28 months: The articular tissues of adult joint were observed. The differences between the chewing and non-chewing side were not seen in the articular tissues of condyle and temporal bone.