• Title/Summary/Keyword: CHARGE syndrome

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The Effects of the Metabolic Syndrome on the Total Medical Charge (성인 남녀를 대상으로 대사증후군이 총 진료비에 미치는 영향분석)

  • Kim, Ki Young;Dong, Jae Yong;Han, Seung Yeon;Lee, Kwang-Soo
    • Health Policy and Management
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    • v.27 no.1
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    • pp.47-55
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    • 2017
  • Background: This study purposed to analyze the effects of metabolic syndrome on the total medical charge of patients. Methods: 2013 National Health Insurance Service sample research database (eligibility database, medical database, and health examination database) was used for this study. Gamma regression was applied to analyze the effects of metabolic syndrome on the total medical charge and logistic regression was used to determine the probability of medical charge which was higher than the third quartile. Sociodemographic characteristics (age and household income), health behavior factors (smoking, drinking, exercise, and body mass index), and disease related factors (family history and metabolic syndrome) were included as the independent variables. Results: people who had metabolic syndrome spent more medical expenses than those without metabolic syndrome both in man and woman group. The standard regression coefficient was 0.09 (p< 0.001) in man with metabolic syndrome and 0.16 (p< 0.001) in woman. In addition, woman with metabolic syndrome spent more than the third quartile of medical charge. The odds ratios was 1.04 (p= 0.16) for man with metabolic syndrome and 1.18 (p= 0.013) for woman. Conclusion: people with metabolic syndrome spent more medical charge, so it will need to consider policy interventions for preventing the incidence and management of metabolic syndrome in Korean people.

Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome

  • Kim, Yeonkyung;Lee, Ho-Seok;Yu, Jung-Seok;Ahn, Kangmo;Ki, Chang-Seok;Kim, Jihyun
    • Clinical and Experimental Pediatrics
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    • v.57 no.1
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    • pp.46-49
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    • 2014
  • CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.

A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

  • Son, Yu Yun;Lee, Byeonghyeon;Suh, Chae-Ri;Nam, Hyo-Kyoung;Lee, Jung Hwa;Hong, Young Sook;Lee, Joo Won
    • Journal of Genetic Medicine
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    • v.12 no.1
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    • pp.57-60
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    • 2015
  • CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

Factors Affecting Post-Traumatic Stress of General Hospital Nurses after the Epidemic of Middle East Respiratory Syndrome Infection (메르스 감염 유행 후 상급종합병원 간호사의 외상 후 스트레스 영향요인)

  • Kim, Hyun Jin;Park, Ho Ran
    • Journal of Korean Clinical Nursing Research
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    • v.23 no.2
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    • pp.179-188
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    • 2017
  • Purpose: This study examined post-traumatic stress (PTS) and the factors affecting it among general hospital nurses after the MERS(Middle East Respiratory Syndrome) epidemic. Methods: Data were collected from 170 nurses who worked at general hospitals since the first reported MERS outbreak. The IES-R-K assessed PTS. Data were analyzed using SPSS. Results: The mean PTS level was 7.80 points (range: 0~88); 7.1% of the participants were at a high risk. Nurses who had been in contact with patients suspected or diagnosed with MERS had high post-traumatic levels; those who had been quarantined during the MERS outbreak had relatively higher PTS levels. Shift-work nurses had higher PTS levels than those with fixed working hours. Above charge' nurses stress levels were higher than staff nurses' stress levels. The results showed that factors including contact with an MERS-suspected or diagnosed patient, position at work, and working status of MERS-affected nurses explained 16% of the PTS. Among the main variables, nurses' above charge position was the greatest factor affecting PTS. Discussion: It is necessary to develop intervention studies and programs considering these variables. Furthermore, development and implementation of differentiated programs should be done considering the position of above charge nurses.

In Silico Study of Human Gap Junction Beta-2 Protein by Homology Modeling

  • Shehzadi, Abida;Masood, Khalid
    • Genomics & Informatics
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    • v.8 no.2
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    • pp.70-75
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    • 2010
  • Asp66his, Asp54Lys, and Asp50Asn are mutations in connexin 26 that are observed in the clinic and give rise to autosomal dominant syndromes. They are the result of point mutations in the human gap junction ${\beta}-2$ gene. In order to investigate the structural mechanism of Bart-Pumphrey Syndrome, Keratitis-Ichthyosis-Deafness Syndrome, and Vohwinkel Syndrome, homology modeling was carried out. Asp66 has direct contact with Asn62 by two hydrogen bonds in the wild-type protein, and in Asp66His, the biggest change observed is a tremendous energy increase caused by hydrogen bond breakage to Asn62. Shifts in the side chain and new hydrogen bond formation are observed for Lys54 compared to the wild-type protein (Asn54) and result in closer contact to Val84. Asp50Asn causes a significant decrease in bond energy, and residual charge reversal repels the ion and metabolites and, hence, inhibits their transportation. Such perturbations are likely to be a factor contributing to abnormal functioning of ion channels, resulting cell death and disease.

The Influence of Teacher's Charge on Environmental Education Class -A Case Study on Ecology and Environment Class for High School in Korea- (교사의 환경교과 전담 여부가 환경교과 수업에 미치는 영향 - 고등학교 생태와 환경 수업을 사례로 -)

  • Kang, You-Jeong;Kim, Jong-Wook
    • Hwankyungkyoyuk
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    • v.17 no.1
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    • pp.101-111
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    • 2004
  • The selection rates of Environmental subject have been increasing since the environmental subject was made. Although the quantitative growth, environmental subject is not acknowledged yet in many schools in Korea. Most of environmental teachers teach two subjects; main subject on their own major and environmental subject. In this respect, this qualitative case study aims to show the influence of teachers' charge on environmental class or environmental subject. In the case study, Teacher 'A' takes charge one subject; Environmet, and teacher 'B' takes charge two subjects; Social Study and Environment. Teacher 'A' took some current issues such as SARS(Severe Acute Respiratory Syndrome) and Saemangum project, and uses various instructional methods and instruments. On the other hand, teacher 'B' might not choose the current issues, or usually gives up various instructional methods and instruments because of lack of time. Although they have those differences on the instruction, the teachers 'A' and 'B' both agreed to the importance of Environmental Education as well as they did their best to prepare for class on environmental subject. As a result, all these outcomes show teachers need to be responsible for single subject on environment as teachers' interests seriously affect to environmental subject and class.

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Dang jonghae's outlook on Bi-Stomach combined the Oriental with the Western medicine (당종해(唐宗海)의 중서회통(中西匯通)에 의한 비위관(脾胃觀))

  • Hur, Jong-Chan;Chough, Won-Joon
    • Korean Journal of Oriental Medicine
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    • v.13 no.1 s.19
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    • pp.1-17
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    • 2007
  • Dang jonghae had written five books on chinese medicine, ${\ulcorner}$Hyeoljeungron${\lrcorner}$ is his most important work. He wanted to correct the fallacies of the theory of Jang and Bu by comparing with Oriental and Western medicine. He distinguished Bi from Cheomyuk by comparing the spleen with the pancreas. He recognized Stomach as the warehouse of foods, and explained that Bi took charge of digestion actually. Bi charged the function of Transportation and Blood-govering in addition to plain digestion, he wrote. Dang jonghae regarded the metabolism of the human body as the interaction of Gi, Blood, Water and Fire. And he explained that Bi adjusted them. He classified Syndrome of Blood into five sorts of syndrome and presented four kinds of treatment. Especially he took a serious view of the treatment connected with Bi and Stomach. He set up the theory of Bi and Stomach practically on basis of anatomy, but he didn ' t assorted the physiology and pathology of each organ clearly. However he proved the importance of Bi and Stomach by treating Syndrome of Blood and provided with the foundation of merging chinese and western medicine.

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A Study on Dang, jonghae's View of Medicine about Spleen, Pancreas, Stomach;Focusing on ${\ulcorner}$Jungseohoetonguigyeongjeongui${\lrcorner}$ & ${\ulcorner}$Hyeoljeungron${\lrcorner}$ (당종해(唐宗海)의 비위(脾胃)에 대한 의학적(醫學的) 연구(硏究);"중서회통의경정의(中西匯通醫經精義)"와 "혈증론(血證論)" 을 중심으로)

  • Hur, Jong-Chan;Won, Jin-Hee;Moon, Goo
    • The Journal of Traditional Korean Medicine
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    • v.15 no.1
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    • pp.1-48
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    • 2006
  • Dang, jonghae had written five books on chinese medicine, ${\ulcorner}$Hyeoljeungron${\lrcorner}$ is his most important work. He wanted to correct the fallacies of the theory of Jang(臟) and Bu(腑) by comparing with chinese and western medicine. He distinguished Bi(脾) from Cheomyuk(甛肉) by comparing the spleen with the pancreas. He recognized Stomach as the warehouse of foods, and explained that Bi took charge of digestion actually. Bi charged the function of Transportation(運化) and Blood-govering(統血) in addition to plain digestion, he wrote. Dang, jonghae regarded the metabolism of the human body as the interaction of Gi(氣), Blood (血), Water(水) and Fire(火). And he explained that Bi adjusted them. He classified Syndrome of Blood(血證) into five sorts of syndrome and presented four kinds of treatment. Especially he took a serious view of the treatment connected with Bi and Stomach. He set up the theory of Bi and Stomach(脾胃論) practically on basis of anatomy, but he didn't assorted the physiology and pathology of each organ clearly. However he proved the importance of Bi and Stomach by treating Syndrome of Blood and provided with the foundation of merging chinese and western medicine.

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Nurses' Experience of Middle East Respiratory Syndrome Patients Care (메르스 환자 간호에 대한 간호사의 경험)

  • Kim, Jiyoung
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.18 no.10
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    • pp.185-196
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    • 2017
  • This study was conducted to investigate the practical experience of nurses in MERS patients care. Nine nurses in one general hospital in S city underwent in-depth interviews from August 2015 to March 2016. The collected data were analyzed according to the procedure of the phenomenological method of Colaizzi. The following five categories were derived: '1. Anxiety and burden due to the risk of transmission of new infectious diseases', '2. Social isolation because of being the nurse in charge of MERS patients', '3. Faced with problems due to an unprepared treatment environment', '4. Overcome the burdensome MERS patient care process', '5. Reflect on the steps for preparing against new infectious diseases'. These results suggest that it is important to draw positive experiences as well as the negative effects of nurses who are involved in treatment of various infectious diseases, including MERS. Based on this, it can be used as a basis for reducing negative psychological and social impacts and improving positive adaptation. Additionally, it is necessary for healthcare workers including nurses to establish the necessary workforces, departments and guidelines for nursing new infectious disease patients.

Pseudohypoaldosteronism Type 1

  • Cheong, Hae Il
    • Journal of Genetic Medicine
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    • v.10 no.2
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    • pp.81-87
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    • 2013
  • Pseudohypoaldosteronism (PHA), a rare syndrome of systemic or renal mineralocorticoid resistance, is clinically characterized by hyperkalemia, metabolic acidosis, and elevated plasma aldosterone levels with either renal salt wasting or hypertension. PHA is a heterogeneous disorder both clinically and genetically and can be divided into three subgroups; PHA type 1 (PHA1), type 2 (PHA2) and type 3 (PHA3). PHA1 and PHA2 are genetic disorders, and PHA3 is a secondary disease of transient mineralocorticoid resistance mostly associated with urinary tract infections and obstructive uropathies. PHA1 includes two different forms with different severity of the disease and phenotype: a systemic type of disease with autosomal recessive inheritance (caused by mutations of the amiloride-sensitive epithelial sodium channel, ENaC) and a renal form with autosomal dominant inheritance (caused by mutations of the mineralocorticoid receptor, MR). In the kidneys, the distal nephron takes charge of the fine regulation of water absorption and ion handling under the control of aldosterone. Two major intracellular actors necessary for the action of aldosterone are the MR and the ENaC. Impairment of the intracellular aldosterone signal transduction pathway results in resistance to the action of mineralocorticoids, which leads to PHA. Herein, ion handling the distal nephron and the clinico-genetic findings of PHA are reviewed with special emphasis on PHA type 1.