• Journal of Genetic Medicine
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• v.13 no.2
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• pp.105-110
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• 2016

Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation allele, especially from the mother. A mother with myotonic dystrophy could be subfertile and the pregnancy could be complicated with the risk of a preterm birth. Newborns with CMD may demonstrate symptoms such as hypotonia and poor motor activity, as well as respiratory and feeding difficulties. Additionally, CMD has a high mortality rate at birth. Detection of the signs and symptoms during pregnancy is helpful for a prenatal diagnosis of CMD in cases where the family history is not known.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.64-71
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• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.79-86
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• 2018

Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. Results: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

• Annals of Hepato-Biliary-Pancreatic Surgery
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• v.28 no.2
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• pp.229-237
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• 2024

Backgrounds/Aims: While patients with borderline resectable pancreatic cancer (BRPC) are a target population for neoadjuvant chemotherapy (NAC), formal guidelines for neoadjuvant therapy are lacking. We assessed the perioperative and oncological outcomes in patients with BRPC undergoing NAC with FOLFIRINOX for patients undergoing upfront surgery (US). Methods: The AHPBA criteria for borderline resectability and/or a CA19-9 level > 100 µ/mL defined borderline resectable tumors retrieved from a prospectively populated institutional registry from 2007 to 2020. The primary outcome was overall survival (OS) at 1 and 3 years. A Cox Proportional Hazard model based on intention to treat was used. A receiver-operator characteristics (ROC) curve was constructed to assess the discriminatory capability of the use of CA19-9 > 100 µ/mL to predict resectability and mortality. Results: Forty BRPC patients underwent NAC, while 46 underwent US. The median OS with NAC was 19.8 months (interquartile range [IQR], 10.3-44.24) vs. 10.6 months (IQR, 6.37-17.6) with US. At 1 year, 70% of the NAC group and 41.3% of the US group survived (p = 0.008). At 3 years, 42.5 % of the NAC group and 10.9% of the US group survived (p = 0.001). NAC significantly reduced the hazard of death (adjusted hazard ratio, 0.20; 95% confidence interval, 0.07-0.54; p = 0.001). CA19-9 > 100 µ/mL showed poor discrimination in predicting mortality, but was a moderate predictor of resectability. Conclusions: We found a survival benefit of NAC with FOLFIRINOX for BRPC. Greater pre-treatment of CA19-9 and multivessel involvement on initial imaging were associated with progression of the disease following NAC.

• Clinical and Experimental Reproductive Medicine
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• v.39 no.4
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• pp.166-171
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• 2012

Objective: We compared the assisted reproductive technology (ART) outcomes among infertile women with polycystic ovary syndrome (PCOS) treated with IVM, conventional IVF, GnRH agonist, and GnRH antagonist cycles. Methods: The prospective study included a total of 67 cycles in 61 infertile women with PCOS. The women with PCOS were randomized into three IVF protocols: IVM/IVF with FSH and hCG priming with immature oocyte retrieval 38 hours later (group A, 14 cycles), GnRH agonist long protocol (group B, 14 cycles), and GnRH antagonist multi-dose flexible protocol (group C, 39 cycles). IVF outcomes, such as clinical pregnancy rate (CPR), implantation rate (IR), miscarriage rate (MR), and live birth rate (LBR), were compared among the three groups. Results: Age, BMI, and basal FSH and LH levels did not differ among the three groups. The number of retrieved oocytes and 2 pronucleus embryos was significantly lower in group A compared with groups B and C. The CPR, IR, MR, and LBR per embryo transfer showed no differences among the three groups. There was no incidence of ovarian hyperstimulation syndrome in group A. Conclusion: The IR, MR, and LBR in the IVM cycles were comparable to those of the GnRH agonist and GnRH antagonist cycles. The IVM protocol, FSH and hCG priming with oocyte retrieval 38 hours later, is an effective ART option that is comparable with conventional IVF for infertile women with PCOS.

• Tuberculosis and Respiratory Diseases
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• v.77 no.5
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• pp.209-214
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• 2014

Background: Bronchiectasis and asthma are different in many respects, but some patients have both conditions. Studies assessing the effect of bronchiectasis on asthma exacerbation are rare. The aim of this study is to investigate the effect of bronchiectasis on asthma exacerbation. Methods: We enrolled 2,270 asthma patients who were followed up in our hospital. Fifty patients had bronchiectasis and asthma. We selected fifty age- and sex-matched controls from the 2,220 asthma patients without bronchiectasis, and assessed asthma exacerbation and its severity based on the annual incidence of total asthma exacerbation, annual prevalence of steroid use, and frequency of emergency room visits and hospitalizations due to asthma exacerbation in each group. Results: Fifty patients (2.2%) had bronchiectasis and asthma. The annual incidence of asthma exacerbation was higher in patients with asthma and bronchiectasis than in patients with asthma alone ($1.08{\pm}1.68$ vs. $0.35{\pm}0.42$, p=0.004). The annual prevalence of steroid use ($0.9{\pm}1.54$ vs. $0.26{\pm}0.36$, p=0.006) and the frequency of emergency room visits ($0.46{\pm}0.84$ vs. $0.02{\pm}0.13$, p=0.001) due to asthma exacerbation were also higher in patients with asthma and bronchiectasis than in patients with asthma alone. Conclusion: Bronchiectasis is associated with difficult asthma control.

• Journal of Physiology & Pathology in Korean Medicine
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• v.16 no.5
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• pp.873-880
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• 2002

We study on the significance and application of the whole body form diagnosis. The results were as follows; The general form diagnosis is the method to observe the individual physiology and pathology. The phase of thinking, the current and activity of KI, the pattern of general form diagnosis have organic relations with the symptoms. The general form diagnosis is made up the principle of the imaging phase, therefore it must make synthetic union the differentiation of syndromes. The general form diagnosis of NAE GYEONG shows the typical phases and it is divided with the sight of YIN YANG and Five-Element. The general form diagnosis of SEOP GAE is practiced the theory of constitution's demonstration before the understanding of symptoms. Then JANG NAM tried the type of constitution's demonstration. The general form diagnosis of DONG MU becomes the diagnostic root of constitution's demonstration in four type constitution theory.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.73-79
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• 2017

The purpose of this study was to analyze the dental treatment of patients with disabilities, especially according to the frequency of general anesthesia, and to propose the improvements in oral care. The subjects of the present study were 85 patients including age, sex, medical condition, dental treatment and the number of general anesthesia. The patients were divided into regular and irregular check groups according to their follow-up patterns. These two groups were compared for the frequency of general anesthesia and the type of repeated treatment. The results showed that restorative treatment was superior in numbers under first visit of general anesthesia. And more general anesthesia was performed in the irregular recall check group compared with the regular recall check group. This survey suggest that easy access to a dental clinic and the convenience of treatment is needed. On the other hand, there is a time limit on the dental care for disabilities by the dentist. Therefore oral care training program should be simultaneously provided for parents to improve the efficiency of dental care at home. In conclusion, efforts should be made for more comprehensive and effective dental care including regular recall check and preventive home care for disabilities.

• Journal of East-West Nursing Research
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• v.26 no.1
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• pp.63-70
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• 2020

Purpose: The purpose of this study was to compare the moral distress and burnout between long-term care hospital nurses and general nurses. Methods: This study was a cross-sectional survey. Participants were 193 nurses (long-term care hospital 95, general hospital 98) working in a hospital in Seoul, Daegu and Busan city. Data were collected from October 02 to November 30, 2018 using a structured questionnaires and analyzed with SPSS/PC ver 21.0 programs. Results: The scores of moral distress by nurses working in long-term care hospitals were higher than those of nurses in general hospitals. The score of burnout by nurses working in general hospitals was significantly higher than that of nurses in long-term care hospitals. There was a significant positive relationship between moral distress and burnout in both long-term care hospital nurses and general hospital nurses. Conclusion: This research shows that long-term care hospital nurses have higher moral distress and burnout than those of general hospital nurses. Therefore, nursing managers and organization should strive to raise the perception of moral distress and burnout in long-term care hospital nurses.

• Journal of East-West Nursing Research
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• v.29 no.2
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• pp.95-105
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• 2023

Purpose: The purpose of this study was to develop a measurement tool for burnout in general hospital nurses and verify its reliability and validity. Methods: Construct factors were extracted through an extensive literature review and in-depth interviews with nurses. Psychometric testing was conducted with 550 nurses in a general hospital. Data were analyzed using validity and reliability testing. Results: As a result of factor analysis, 4 factors and 26 items were selected. The burnout factors of general hospital nurses were professional quality of life, work environment excellence, job satisfaction, and negative emotions. The overall coefficient of determination was 46.38%. These factors were validated through convergent, discriminant and concurrent validity testing. The internal consistency reliability was acceptable (Cronbach's α=.91). Conclusions: The Burnout Scale for General Hospital Nurses is a valid and reliable tool that contributes to the assessment of burnout in general hospital nurses. This scale is expected to be used in burnout practice and research of general hospital nurses.