1.Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
Young Eun KIM ; Chang Seok KI ; Mi Ae JANG
Annals of Laboratory Medicine 2019;39(6):606-606
This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article.
2.A Comparative Study on Cerebral Infarction in Patient with Nonvalvular and Valvular Atrial Fibrillation.
Ae Young LEE ; Eun Seok JEON ; Chong Hun PARK ; Chin Sang CHUNG
Journal of the Korean Neurological Association 1991;9(1):11-17
To compare the features of stroke associated with nonvalvular and valvular atrial fibri!lation, we carried out a retrospective study on cerebral infarcts in 27 patients with nonvalvular atrial fibrillation (AF) and in 33 patients with valvular AF.Iwe analyzed the clinical courses, the underlying heart diseases, and the features of echocardiography and brain cornputed tomograpy, Thefollowing results were obtained; 1) Most strokes in nonvalvular AF occurred after 7th decade and the age of stroke onset in nonvalvular group was younger than that of nonvalvular group(p<.05).; 2) Echocardiographic studiesshowed that the left atriurn of the heart in the nonvalvular AF group was srnaller in size than the valvular group and that the left atrial thrombi were not detectable on conventional echoardiograrn in the nonvalvular irouP.: 3) Both groups showed sirnilar distribution in the sites, number, and nature of the brain lesions.; 4) Stroke recurred with sirnilar frequency in both groups and rnost of them occurred during the first year of the initial stroke.
Atrial Fibrillation*
;
Brain
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Cerebral Infarction*
;
Echocardiography
;
Heart
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Heart Diseases
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Humans
;
Retrospective Studies
;
Stroke
3.Anesthetic Management of Laparoscopic Adrenalectomy for Pheochromocytoma.
Eun Yong CHUNG ; Ae Ra KIM ; Seok Ho HAN
Korean Journal of Anesthesiology 2000;38(4):758-763
Currently-available imaging techniques provide accurate localization of a tumor in patients with pheochromocytoma. The precision of this information allows the use of a more selective surgical approach to the tumor, such as by laparoscopy. We describe a case of a 54-year-old female who underwent resection of pheochromocytoma by a laparoscopic approach. Two events resulted in significant hemodynamic changes; the creation of the pneumoperitoneum and adrenal gland manupulation. Preoperative preparation with alpha-adrenergic blocking agents and adequate fluid loading before insufflation attenuated intraoperative cardiovascular changes, while titration of sodium nitroprusside and phentolamine allowed easy and quick control of the hemodynamic aberrances related to these processes. As a result, the operation was carried out safely, and the postoperative course was unremarkable.
Adrenal Glands
;
Adrenalectomy*
;
Adrenergic alpha-Antagonists
;
Female
;
Hemodynamics
;
Humans
;
Insufflation
;
Laparoscopy
;
Middle Aged
;
Nitroprusside
;
Phentolamine
;
Pheochromocytoma*
;
Pneumoperitoneum
4.Current Management of In-Stent Restenosis
Korean Circulation Journal 2018;48(5):337-349
Despite the advent of the drug-eluting stents (DES) and improved stent design, in-stent restenosis (ISR) remains a challenging problem. The currently available options for treatment of ISR include angioplasty alone, repeat stenting with DES or drug-coated balloons. Several recent studies have compared the available options for treating ISR in an attempt to identify the preferred therapeutic strategy. In this review, we will discuss the currently available therapeutic strategies for the management of patients with ISR and the evidence supporting their use.
5.Current Management of In-Stent Restenosis
Korean Circulation Journal 2018;48(5):337-349
Despite the advent of the drug-eluting stents (DES) and improved stent design, in-stent restenosis (ISR) remains a challenging problem. The currently available options for treatment of ISR include angioplasty alone, repeat stenting with DES or drug-coated balloons. Several recent studies have compared the available options for treating ISR in an attempt to identify the preferred therapeutic strategy. In this review, we will discuss the currently available therapeutic strategies for the management of patients with ISR and the evidence supporting their use.
Angioplasty
;
Drug-Eluting Stents
;
Humans
;
Stents
6.Two Cases of Slipped Capital Femoral Epiphysis in Children Receiving Growth Hormone Therapy.
Hwan Seok LEE ; Eun Ae YANG ; Eun Hui HONG ; Min Hyun CHO ; Cheol Woo KO
Journal of Korean Society of Pediatric Endocrinology 2009;14(2):163-167
Slipped capital femoral epiphysis is a rare hip disorder that mainly occurs in pubertal children. Although the exact cause of this disorder is unknown, it is known to be associated with obesity, trauma, delayed sexual development, delayed bone maturation, chronic renal failure, genetic diseases, endocrine disorders (growth hormone deficiency, hypothyroidism, hypogonadism), growth hormone therapy, and gonadotropin releasing hormone agonist (GnRH agonist) therapy. We report 2 cases of slipped capital femoral epiphysis in adolescent females who were receiving growth hormone therapy. The first case is of a 16 year-old-girl with chronic renal failure and renal osteodystrophy. The second case is of an 11 year-old-girl with idiopathic precocious puberty who had received GnRH agonist and growth hormone therapy. Unilateral or bilateral slipped capital femoral epiphysis developed at 1 year 3 months after treatment in both the cases. The chief complaints were pain in the hip joint and lower extremities. Growth hormone and/or GnRH agonist therapy was stopped, and in situ screw fixations of the involved hip epiphyses were performed.
Adolescent
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Child
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Endocrine System Diseases
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Epiphyses
;
Female
;
Gonadotropin-Releasing Hormone
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Growth Hormone
;
Hip
;
Hip Joint
;
Humans
;
Hypothyroidism
;
Kidney Failure, Chronic
;
Lower Extremity
;
Obesity
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Puberty, Precocious
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Renal Osteodystrophy
;
Sexual Development
;
Slipped Capital Femoral Epiphyses
8.The Common NF-kappaB Essential Modulator (NEMO) Gene Rearrangement in Korean Patients with Incontinentia Pigmenti.
Min Jung SONG ; Jong Hee CHAE ; Eun Ae PARK ; Chang Seok KI
Journal of Korean Medical Science 2010;25(10):1513-1517
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-kappa B essential modulator (NEMO) located at Xq28 is believed to play a role in pathogenesis and the mutation occurs mostly in female patients due to fatal consequence of the mutation in males in utero. This study was designed to identify the common NEMO rearrangement in four Korean patients with IP. Deletion of exons 4 to 10 in the NEMO, the most common mutation in IP patients, was detected in all of the patients by the use of long-range PCR analysis. This method enabled us to discriminate between NEMO and pseudogene rearrangements. Furthermore, all of the patients showed skewed XCI patterns, indicating pathogenicity of IP was due to cells carrying the mutant X chromosome. This is the first report of genetically confirmed cases of IP in Korea.
Alleles
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Asian Continental Ancestry Group/*genetics
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Chromosomes, Human, X
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Exons
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Female
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Humans
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I-kappa B Kinase/*genetics
;
Incontinentia Pigmenti/*genetics/pathology
;
Polymerase Chain Reaction
;
Republic of Korea
;
*Sequence Deletion
9.Glutathione S-transferase polymorphism of neonatal hyperbilirubinemia in Korean neonates.
Chang Seok KANG ; Seung Su HONG ; Ji Sook KIM ; Eun Ryoung KIM
Korean Journal of Pediatrics 2008;51(3):262-266
PURPOSE: Glutathione S-transferase (GST) is a polymorphic supergene family of detoxification enzymes that are involved in the metabolism of numerous diseases. Several allelic variants of GSTs show impaired enzyme activity and are suspected to increase the susceptibility to diseases. Bilirubin is bound efficiently by GST members. The most commonly expressed gene in the liver is GSTM1, and GSTT1 is expressed predominantly in the liver and kidneys. To ascertain the relationship between GST and neonatal hyperbilirubinemia, the distribution of the polymorphisms of GSTT1 and GSTM1 were investigated in this study. METHODS: Genomic DNA was isolated from 88 patients and 186 healthy controls. The genotypes were analyzed by polymerase chain reaction (PCR). RESULTS: The overall frequency of the GSTM1 null was lower in patients compared to controls (P=0.0187, Odds ratio (OR) =0.52, 95% confidence interval (CI), 0.31-0.88). Also, the GSTT1 null was lower in patients compared to controls (P=0.0014, OR=0.41, 95% CI=0.24-0.70). Moreover, the frequency of the null type of both, in the combination of GSTM1 and GSTT1, was significantly reduced in jaundiced patients (P=0.0008, OR=0.31, 95% CI=0.17-0.61). CONCLUSION: We hypothesized that GSTM1 and GSTT1 might be associated with neonatal hyperbilirubinemia. However, the GSTT1 and GSTM1 null type was reduced in patients. Therefore the null GSTT1, null GSTM1, and null type of both in the combination of GSTM1 and GSTT1 may be not a risk factor of neonatal jaundice.
Bilirubin
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Chondroitin Sulfates
;
Disaccharides
;
DNA
;
Genotype
;
Glutathione
;
Glutathione Transferase
;
Humans
;
Hyperbilirubinemia, Neonatal
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Infant, Newborn
;
Jaundice, Neonatal
;
Kidney
;
Liver
;
Odds Ratio
;
Polymerase Chain Reaction
;
Risk Factors
10.The economic burden of stroke in 2010 in Korea.
Hyun Jin KIM ; Young Ae KIM ; Hye Young SEO ; Eun Jung KIM ; Seok Jun YOON ; In Hwan OH
Journal of the Korean Medical Association 2012;55(12):1226-1236
Stroke is a disease that causes a substantial economic burden. With the rapidly aging population in Korea, the prevalence of chronic diseases, including stroke, is expected to rise, along with associated health care expenditures. Therefore, we estimated the economic burden of stroke in Korea in 2010 using nationally representative data. We used a prevalence-based approach to estimate the cost of stroke by claims data from the Korean National Health Insurance. Data from the Korea Health Panel, the Korea National Statistical Office's records of causes of death, and Labor Statistics were used to calculate direct non-medical costs and indirect costs. Direct costs included direct medical costs and direct non-medical costs, and indirect costs were opportunity costs lost due to premature death and productivity loss. Total costs were estimated by adding age- and gender-specific costs. The total economic burden of stroke was $3.53 billion: $1.87 billion for hemorrhagic stroke and $1.66 billion for ischemic stroke. The direct costs were $1.74 billion and the indirect costs were $1.79 billion. By gender, males were burdened at $2.19 billion, while females bore $1.34 billion of the total burden. Stroke imposes a huge economic burden, as indicated by the fact that the costs of stroke increased by 4.4% from 2005 to 2010, and the estimated cost was 0.35% of gross domestic product. Therefore, effective prevention programs and treatments are needed to reduce the economic burden of stroke in Korea.
Aging
;
Cause of Death
;
Chronic Disease
;
Cost of Illness
;
Delivery of Health Care
;
Efficiency
;
Female
;
Gross Domestic Product
;
Health Expenditures
;
Humans
;
Korea
;
Male
;
Mortality, Premature
;
National Health Programs
;
Prevalence
;
Stroke