• Title/Summary/Keyword: CHD7

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The Variation of Oscillatory Behaviours in the Oscillating Reaction system of $CHD/BrO_3-/Ce^{4+}/H^+$

  • 장영준;신수범;조상준;허도성
    • Bulletin of the Korean Chemical Society
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    • v.19 no.7
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    • pp.743-746
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    • 1998
  • The Belousov-Zhabotinskii (BZ) reaction, which is composed of a bromate-organic acid-metal catalyst and an acidic solution is a commonly employed chemical oscillating reaction system. Cyclohexanedione (CHD) has been used as an initial organic substrate in oscillation systems. We studied each system of 1,4-CHD/BrO3-/Ce4/H+ and 1,3-CHD/BrO3-/Ce4+/H+ oscillating reactions, and studied the control of oscillating characters in a CHD/BrO3-/Ce4+/H+ batch system using a mixed substrate of 1,4-CHD and 1,3-CHD under a fixed total CHD concentration. In the mixed reactions, 1,4-CHD was used as a main substrate and small amounts of 1,3-CHD were used in order to vary the oscillatory behaviours by changing the mixing amount ratio of two substrates.

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.

Prediction of Coronary Heart Disease Risk in Korean Patients with Diabetes Mellitus

  • Koo, Bo Kyung;Oh, Sohee;Kim, Yoon Ji;Moon, Min Kyong
    • Journal of Lipid and Atherosclerosis
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    • v.7 no.2
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    • pp.110-121
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    • 2018
  • Objective: We developed a new equation for predicting coronary heart disease (CHD) risk in Korean diabetic patients using a hospital-based cohort and compared it with a UK Prospective Diabetes Study (UKPDS) risk engine. Methods: By considering patients with type 2 diabetes aged ${\geq}30years$ visiting the diabetic center in Boramae hospital in 2006, we developed a multivariable equation for predicting CHD events using the Cox proportional hazard model. Those with CHD were excluded. The predictability of CHD events over 6 years was evaluated using area under the receiver operating characteristic (AUROC) curves, which were compared using the DeLong test. Results: A total of 732 participants (304 males and 428 females; mean age, $60{\pm}10years$; mean duration of diabetes, $10{\pm}7years$) were followed up for 76 months (range, 1-99 month). During the study period, 48 patients (6.6%) experienced CHD events. The AUROC of the proposed equation for predicting 6-year CHD events was 0.721 (95% confidence interval [CI], 0.641-0.800), which is significantly larger than that of the UKPDS risk engine (0.578; 95% CI, 0.482-0.675; p from DeLong test=0.001). Among the subjects with <5% of risk based on the proposed equation, 30.6% (121 out of 396) were classified as ${\geq}10%$ of risk based on the UKPDS risk engine, and their event rate was only 3.3% over 6 years. Conclusion: The UKPDS risk engine overestimated CHD risk in type 2 diabetic patients in this cohort, and the proposed equation has superior predictability for CHD risk compared to the UKPDS risk engine.

Recent incidence of congenital heart disease in neonatal care unit of secondary medical center: a single center study

  • Cho, Seon-Young;Oh, Jin-Hee;Lee, Jung-Hyun;Lee, Jae-Young;Lee, Soon-Ju;Han, Ji-Whan;Koh, Dae-Kyun;Oh, Chang-Kyu
    • Clinical and Experimental Pediatrics
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    • v.55 no.7
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    • pp.232-237
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    • 2012
  • Purpose: With feasibility in the diagnoses of congenital heart disease (CHD) in the antenatal period, we suspect changes have occurred in its incidence. No data have been reported about the current incidence of simple forms of CHD in Korea. We have attempted to assess the recent incidence and characteristics of CHD in the neonatal care unit of a secondary referral medical center. Methods: Medical records of 497 neonatal care unit patients who underwent echocardiography in the past 5 years were reviewed. Preterm infants with patent ductus arteriosus and other transient, minimal lesions were excluded from this study. Results: Although the number of inpatients remained stable, the incidence of simple forms of CHD showed a gradual decrease over the 5-year study period; a markedly low incidence of complex forms was seen as well. CHD was observed in 3.7% full-term and 6.8% pre-term infants. CHD was observed in 152 infants weighing >2,500 g (3.5% of corresponding birth weight infants); 65 weighing 1,000 to 2,500 g (9.3%); and 6 weighing <1,000 g (8.0%). The incidence of CHD was higher in the pre-term group and the low birth weight group than in each corresponding subgroup (P<0.001); however, the incidence of complex CHD in full-term neonates was high. The number of patients with extracardiac structural anomalies has also shown a gradual decrease every year for the past 5 years. Conclusion: Findings from our study suggest that the recent incidence and disease pattern of CHD might have changed for both complex and simple forms of CHD in Korea.

Higher Seroprevalence of Hepatitis B Virus Antigen in Patients with Cystic Hydatid Disease than in Patients Referred to Internal Medicine Clinics in Turkey

  • Gultepe, Bilge;Dulger, Ahmet Cumhur;Gultepe, Ilhami;Karadas, Sevdegul;Ebinc, Senar;Esen, Ramazan
    • Parasites, Hosts and Diseases
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    • v.52 no.1
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    • pp.47-49
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    • 2014
  • Turkey remains an intermediate area for prevalence of hepatitis B virus (HBV) surface antigenemia. The sheep-raising areas of Turkey also pose a high risk for cystic hydatid disease (CHD). Both HBV infection and CHD are major public health issues particularly in eastern parts of Turkey; however, there is no data regarding HBV infection in patients who have had CHD. The aims of this study were to evaluate the association between HBV infection and CHD and suggest ways to reduce HBV infection which is still widespread in Turkey. A retrospective study was conducted with 94 adult patients with active CHD referred to the hepatology department, Yuzuncuyil University School of Medicine from December 2010 to December 2012. All subjects came from rural areas of the region and underwent ultrasonography of abdomen which detected CHD of the liver. All the patients were serologically positive for Echinococcus granulosus. The control group consisted of 500 patients (300 men and 200 women) referred to the internal medicine clinics for other reasons. The patients with CHD and in the control group were tested for the existence of HBs antigen according to the standard procedures. The seroprevalence of HBs antigen was significantly higher in patients with active CHD than those in the control group (12.7% vs 5.2%; P=0.0017). Our data indicate that there is significant association between HBV infection and CHD. All patients with CHD should be screened for HBV infection.

Prevalence of Congenital Heart Disease from the Elementary Student Heart Disease Screening Program (초등학생 심장병 집단검진을 통한 선천성 심장병 유병률)

  • Lee, Hong-Jue;Kim, Myoung-Hee;Jung, Jo-Won;Kim, Seong-Ho;Choi, Bo-Youl
    • Journal of Preventive Medicine and Public Health
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    • v.34 no.4
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    • pp.427-436
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    • 2001
  • Objective : To estimate the prevalence of congenital heart disease from the 1990 student heart disease screening program. Methods : The heart disease screening program for elementary students was conducted in Kyonggi-do, in 1998. The subjects of the present study comprised the 40,402 students who attended the schools in the catchment area of a collaborative university hospital and who participated in the primary examination. The congenital heart disease (CHD) patients were initially identified through a questionnaire about prior medical history, and further through diagnostic tests & medical examinations in the secondary & the tertiary examinations. Certain assumptions were used in the estimation of the number of CHD cases among non-participants of the secondary & tertiary examinations. The overall prevalence of CHD was estimated by adding the CHD detection rates of the participants and the estimated prevalence of the non-participants. Results : Among the 40,402 primary participants, 1,655 were referred further, of whom 79.1% (1,309) participated in the secondary examination. Of these, 121 were referred to the tertiary examination, with a participation rate at this last stage of 80.2%. The positive predictive value (PPV) of the screening tools was the highest when the results of both EKG and the questionnaire were positive. Because 85.9% of the detected cases had a past history of CHD, PPV was higher when the selection criteria in the questionnaire included past CHD history than when it didnt. The CHD defection rate among the participants was 1.76 cases/1,000 and the presumed number of cases among the non-participants was 31; giving an estimated final CHD prevalence of 2.52 cases/1,000 (95% CI : 2.06-3.06). Among the identified cases of CHD, VSD (52.8%) was the most common, followed by PDA (9.7%), TOF (9.7%) & PS (9.7%). Conclusion : Because the characteristics of the non-participants differed from those of the participants, the estimation of prevalence was influenced by the participation rate. Of the detected cases, 85.9% had a past history of diagnosis or operation for CMD. These findings suggested that the prevalence estimated in this study may be an underestimation of the actual condition. Therefore, a birth cohort study is required in order to more accurately estimate the prevalence and the effects of the program.

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Genome-wide association study to identify canine hip dysplasia loci in dogs

  • Kang, Ji Min;Seo, Dongwon;Lee, Soo Hyun;Lee, Doo Ho;Kim, Yeong Kuk;Choi, Bong Hwan;Lee, Seung Hwan
    • Journal of Animal Science and Technology
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    • v.62 no.3
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    • pp.306-312
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    • 2020
  • Korean army dogs are raised for special purposes and have contributed much to society. However, several diseases occur in dogs. Canine hip dysplasia (CHD) is a musculoskeletal disorder that occurs frequently in Korean army dogs and interferes with their activities. If we could control CHD, this would have a positive effect on their performance. This study performed a genome-wide association study (GWAS) in 69 Korean army dogs to find significant loci for CHD using 170K single nucleotide polymorphisms (SNPs). CHD was classified according to the Norberg angle criterion. The control group comprised 62 dogs classified as relatively normal, and 7 dogs with severe CHD formed the case group. From the GWAS analysis, we concluded that SNPs present on chromosome 4 might have a significant impact on the overall expression of canine hip dysplasia.

Serum Zinc Level and Its Related Dietary Factors in Male Patients with Coronary Heart Disease (관상혈관 남성 질환자의 혈청 아연수준 및 관련 식이요인)

  • Lee Ok-Hee;Kim Bo-Ha;Lee Seung-Whan;Park Seung-Uk;Park Chang-Jung;Moon Jong-Wha;Chung Yong-Sam
    • Journal of Nutrition and Health
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    • v.39 no.3
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    • pp.252-263
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    • 2006
  • Zinc is an antioxidant trace mineral, scavenging free radicals and known to be involved in inflammatory reactions. The prevalence of atherogenic diseases such as coronary heart disease (CHD) are increasing in Korean adults of middle age and elderly. The increased cell damage from free radicals and inflammation have been implicated in etiology of CHD, and the evidence is accumulating that low zinc status is involved in the prevalence of this inflammatory atherogenic disease. However, little is known about the zinc status of Korean CHD and its relationship with dietary zinc intake and zinc bioavailabilty. In this study the serum zinc levels of male patients with CHD over 40 yrs. were compared with that of healthy adult males and its associations with dietary zinc intake and zinc bioavailabilty affecting factors were examined. Serum zinc level was measured by HANARO research reactor using neutron activation analysis (NAA) method. The overall proportion of patients with zinc deficiency, serum zinc concentrations below $74.0{\mu}g/dL$ was 32.8% compared to the 10.3% in healthy group. The average serum zinc levels were $80.7{\mu}g/dL\;and\;88.3{\mu}g/dL$ in patients and healthy group, respectively, showing significantly low zinc status in CHD patients compared to healthy group. The intake of nutrients such as energy, carbohydrate, iron, and copper of CHD patients was significantly higher compared to that of the healthy group. In addition, the intake of calcium, iron, and protein from vegetable foods was significantly higher in CHD patients than that of healthy group. The dietary zinc intake was $12.7{\pm}4.5mg$ and $11.5{\pm}6.9mg$ in CHD patients and control group, respectively, which showed no difference. The phytate intake of patients group, which is 1389.0 mg, was significantly higher than the control group which showed 1104.8 mg. However, the ratio of phytate: zinc or phytate * calcium. zinc per 1000 kcal energy intake did not show any difference between two groups. The serum zinc levels did not show any correlation with zinc or factors that affect the bioavailability of zinc. The dietary factors influencing the zinc status were not found in CHD patients.

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.

Clinical course and prognosis of hemodynamically significant congenital heart defects in very low birth weight infants (혈역학적으로 의미있는 선천성 심기형을 가진 극소 저체중 출생아의 임상경과 및 예후)

  • Yoo, Hye Soo;Kim, Ji Eun;Park, Soo Kyoung;Seo, Hyun Ju;Jeong, Yoo Jin;Chio, Seo Heui;Jeong, Soo In;Kim, Sung Hoon;Yang, Ji Hyuk;Huh, June;Chang, Yun Sil;Jun, Tae Gook;Kang, I Seok;Park, Won Soon;Park, Pyo Won;Lee, Heung Jae
    • Clinical and Experimental Pediatrics
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    • v.52 no.4
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    • pp.481-487
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    • 2009
  • Purpose : This study investigated the clinical course and prognostic factor of very low birth weight infants (VLBWI) with hemodynamically significant congenital heart defects (CHDs). Methods : Medical records of 1,098 VLBWI with birth weight <1,500 g who had been admitted to the neonatal intensive care unit of Samsung Medical Center from October 1994 to December 2007 were reviewed retrospectively. The data for these patients with hemodynamically significant CHD (n=33) were compared with those without CHD (n=1,065). Results : The incidence of CHD was 3.0% (33 patients) 7 patients (21%) had CHD combined with the congenital abnormalities or chromosomal disorders. The most common CHD was a ventricular septal defect. The incidence of intrauterine growth retardation was higher in patients with CHD than in patients without CHD (34% vs. 20%), but there were no significant differences in gestational age, birth weight, respiratory distress syndrome, bronchopulmonary dysplasia, necrotizing enterocolitis, severe intraventricular hemorrhage (${\geq}$Gr III), and periventricular leukomalacia. Cardiac surgery was performed on 13 patients (39%). Nine patients received staged operations, and 10 patients received early intervention. The overall mortality in patients who had CHD was higher than in the patients who did not have CHD (27% vs. 16%). In patients with CHD, congenital abnormalities or chromosomal disorders were more important factors for increased mortality (86% vs. 11%) than the degree of complexity of CHD (19% vs. 42%). Conclusion : The most important prognostic factors of VLBWI with CHD are the associated congenital abnormalities or chromosomal disorders.