• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.25-28
• /
• 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

• Women's Health Nursing
• /
• v.22 no.4
• /
• pp.233-240
• /
• 2016

Purpose: The purpose of this study was to investigate factors which effect clinical nurses' exhaustion. Methods: This research was conducted targeting 140 clinical nurses. Data were collected from 18 September to 30 September 2015. Data were analyzed using the program SPSS/WIN 18.0. Descriptive statistics, t-test, ANOVA, Pearson correlation coefficient, and Stepwise multiple regression analysis were used. Results: Burnout was significantly different by age (F=7.99, p=.001), marital status (t=8.69, p=.004), department area (F=7.65, p<.001), frequency of night work in a month (F=7.65, p=<.001), and clinical career (F=3.68, p=.028). There was positive correlations between menstrual attitudes of participants and premenstrual syndrome (r=34, p<.001), menstrual attitudes and stress (r=.40, p<.001), and menstrual attitudes and burnout (r=.16, p=.031). There were positive correlations between premenstrual syndrome and stress (r=.46, p<.001), between premenstrual syndrome and burnout (r=.35, p<.001), and between stress and burnout (r=.36, p<.001). Factors influencing burnout were premenstrual syndrome (${\beta}=.335$) and age (${\beta}=.216$), with an explanatory power of 18.0%. Conclusion: There is a need to develop and apply program for reducing clinical nurses' pre-menstrual syndrome. In addition, policies are needed to allow for menstruation leave, thereby making it legal.

• Korean Journal of Adult Nursing
• /
• v.19 no.1
• /
• pp.89-97
• /
• 2007

Purpose: This study was to examine the differences in the degree of premenstrual syndrome, dysmenorrhea, and stress according to the gender role identity of female university students. Methods: Data were collected by self-reported questionnaires from 308 female university students. Data analysis was done with SPSS 10.1 for descriptive statistics, ANOVA, and Duncan's multiple-range test. Results: The most prevalent type of premenstrual syndrome was androgenic(33.8%), followed by undifferentiated(25.0%). There was a significant difference in dysmenorrhea according to residence. In addition, there were significant differences in premenstrual syndrome according to age, and in stress according to age and economic status. Also, there was no significant difference according to dysmenorrhea and there were significant differences in premenstrual syndrome and dysmenorrhea according to gender role identity. Premenstrual syndrome and stress were the most prevalence in female type, but the lowest severe in masculine type. Conclusion: The study variables can be influencing factors in the gender role identity of female university students. Also, the findings can provide the basis for the development of nursing interventions to establish the gender role identity of female university students.

• Journal of Korean Academy of Fundamentals of Nursing
• /
• v.17 no.4
• /
• pp.487-497
• /
• 2010

Purpose: This study examined the validity and reliability to develop a lifestyle evaluation tool for metabolic syndrome patients. Methods: A methodological research design was used. The construct factors and preliminary items were identified by reviewing previous researches and tools related to lifestyle and reviewed by ten experts. It was tested with 195 patients with metabolic syndrome in a university hospital. The data were analyzed with SPSS/WIN 14.0. Results: To test the validity, principal component analyses were used and resulted in the extraction of six components. The convergent validity resulted r= .72 (p<.001) with Health Promotion Lifestyle Profile. The discriminant validity with Center for Epidemiologic Studies Depression Scale resulted r= -.15 (p=.004). The Internal consistency of the tool had an Cronbach's a of .92. The self-report format Lifestyle Evaluation Tool for the patients with metabolic syndrome was developed with 36 items and four-rating scales:'physical activity and weight control' eight items, 'dietary habits' sixteen items, 'drinking and smoking' three items, 'sleep and rest' two items, 'stress' three items, 'drug and health management' four items. Conclusion: This Tool will evaluate health behaviors in patients with metabolic syndrome. Also, it will contribute to the development of nursing intervention to improve the metabolic syndrome patients' lifestyle.

• Phonetics and Speech Sciences
• /
• v.9 no.2
• /
• pp.125-135
• /
• 2017

The current study examines PCC (percentage of correct consonant), speech intelligibility, and oral motor function between the group of typically developing children and the group of children with Down's syndrome. To 15 children with Down's syndrome (mean CA: 9;7) and 15 typically developing children on receptive language age, the following tests were administered: K-WPPSI (2001), Picture Vocabulary Test (Kim et al., 1995), Oral and Speech Motor Control Protocol for total oral functional score (Robbins et al., 1987), DDK and Assessment of Phonology and Articulation for Children (APAC, Kim et al., 2007) for PCC and speech intelligibility. Pearson correlation coefficients were computed for the total oral functional score, PCC and DDK of each group. The statistical analysis showed that there is no significant difference in total functional score and DDK when IQ was controlled. There was a significant correlation between total oral functional score and PCC in the Down's syndrome group and a significant correlation between total oral functional score and intelligibility in the Down's syndrome group whether IQ was controlled or not. The findings suggest that both cognitive ability and overall oral motor function need to be considered for the intervention to enhance PCC or speech intelligibility of children with Down's syndrome.

• The Journal of Korean Obstetrics and Gynecology
• /
• v.24 no.4
• /
• pp.20-30
• /
• 2011

Purpose: Polycystic ovary syndrome(PCOS) is a common condition characterised by menstrual abnormalities. PCOS is now recognised to be a metabolic syndrome which may include hyperinsulinemia, hyperlipidemia, diabetes mellitus and possibly cardiac disease. Cyperi Rhizoma(CR) can soothe the liver to regulate gi and regulate menstruation to relieve pain. For these reasons, this study was designed to investigate the effects of CR on metabolic syndrome in PCO rats. Methods: Female rats injected with a single dose of 2 mg/kg estradiol valerate (EV) develop PCO, CR was given for 5 weeks. After 5 weeks administration of drugs, body weights, food uptake, Fasting Blood Glucose, Oral Glucose Tolerance Test, Total Cholesterol, HDL-Cholesterol, LDL-Cholesterol and Triglyceride were measured once a week. Results: In this experiment, single injection of EV induced hyperlipidemia, but it did not affect serum glucose levels. Oral administration of CR prevent weight loss shown in control group. In addition, treatment with CR can lower total cholesterol, LDL-cholesterol and triglyceride in serum compared to PCO induced control group. Conclusions: These results suggest that CR can regulate hyperlipidemia in PCOS.

• Journal of Physiology & Pathology in Korean Medicine
• /
• v.29 no.1
• /
• pp.79-84
• /
• 2015

The aim of this review is to investigate studies of Korean medical treatment of carpal tunnel syndrome published in Korea and the evidence of it's effects in order to suggest a better research method in the future. Four Korean web databases were searched by using key words such as 'carpal', and checked relevant Korean journals. The papers were classified into the field of study, publish date, diagnostic methods, evaluation methods and analysed the study tendency. There are 9 case studies, 4 controlled studies. The paper was published almost every year more than once. Acupucture, pharmacopuncture, acupotomy, warm needle acupuncture, taping, etc. were used as treatment tools. The two most commonly used diagnostic method for carpal tunnel syndrome are Phalen's test and Tinel's sign. The two most commonly used evaluation method are VAS(Visual Analog Scale) and subjective symptoms. Korean medical treatment of carpal tunnel syndrome was effective in all studies. Korean medical treatment of carpal tunnel syndrome was effective in all studies. So it is possible that Korean medical treatment of carpal tunnel syndrome is useful as therapeutic medicine, but there are not sufficient evidence based papers, so there should be further studies.

• The Journal of Korean Society for School & Community Health Education
• /
• v.15 no.3
• /
• pp.31-41
• /
• 2014

Objective: The purpose of this study was to obtain the basic data for quality of life and improve the oral health through relevance of academic stress with academic high school girl temporomandibular joint syndrome. Methods: Data was collected from the students of two academic girl high school in Daegu, using questionnaire. They were the students of the 1st, 2nd grade, in total 311 student. The analysis was made using ${\chi}^2-test$, (one way ANOVA), and Pearson's Correlation, multiple linear regression analysis. These were conducted using spss 14.0 version Results: High school girl had at least one temporomandibular joint syndrome was 70.4%. In subjective of temporomandibular joint syndrome academic stress for grade stress scores were highest 52.3, study stress 35.0 all the depth of a lesson stress 45.5, there was a statistically significant(p<0.001). effect on subjective of temporomandibular joint syndrome influence the bad oral habit(${\beta}=0.325$) were found to have subjective of joint syndrome showed a statistically significant increase in the higher significant positive(p<0.001).

• Archives of Plastic Surgery
• /
• v.50 no.4
• /
• pp.384-388
• /
• 2023

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male who was admitted at our department for multiple brown-to-black papules and plaques on the entire body. He was diagnosed with Gorlin-Goltz syndrome with clinical, radiologic, and pathologic findings. While the diagnosis was made based on the clinical findings in general, confirmation of the genetic variants makes an ideal diagnosis and suggests a new treatment method for target therapy. We requested a genetic test of PTCH1 to ideally identify the molecular confirmation in the hedgehog signaling pathway. However, no pathogenic variants were found in the coding region of PTCH1, and no molecular confirmation was achieved.

• The Journal of Korean Society for School & Community Health Education
• /
• v.16 no.2
• /
• pp.17-31
• /
• 2015

Objectives: This study aimed to analyze the relationship between metabolic syndrome and cataract in a middle-aged men over the age of 40's by using the data from the 5th Korean National Health and Nutrition Examination Survey(2010~2012). Methods: The subjects for the analysis were comprised of 5,808 patients who were at least 40 years or more with metabolic syndrome and cataract. The comparison between the metabolic syndrome and ophthalmic diseases according to the health demographic characteristics, health behavior and health conditions was analyzed with ${\chi}^2-test$. The complex samples logistic regression analysis was used to calculate the odds ratio of cataract according to the health demographic characteristics, health behavior and health conditions and the combination of the comprising factors of the metabolic syndrome. Results: After controlling the confounding factors, the odds ratio of cataract in the metabolic syndrome group was OR 1.30, which was significantly high (p<0.01). Furthermore, the odds ratio of cataract was significantly high in the case of males, as the age increased, educational level decreased, with exercising habits of less than 3 days a week, sun exposure of at least 5 hours, with hypertension and diabetes (p<0.01). The results of analyzing the odds ratio for the occurrence of cataract with the components of metabolic syndrome were OR 1.36 (concurrent high fasting blood glucose, high triglycerides, low HDL cholesterol), OR 1.63 (concurrent high fasting blood glucose, high triglycerides, high waist circumference) and OR 1.33 (high triglycerides, low HDL cholesterol, high waist circumference), which showed significantly high odds ratio for cataract occurrence (p<0.05). Conclusions: We come to know that the relation between metabolic syndrome and components are associate with cataract. Therefore the thorough management of metabolic syndrome and components is needed to prevent cataract.