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.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
3.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
;
Cerebral Infarction*
;
Echocardiography
;
Heart
;
Heart Diseases
;
Humans
;
Retrospective Studies
;
Stroke
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
;
Child
;
Endocrine System Diseases
;
Epiphyses
;
Female
;
Gonadotropin-Releasing Hormone
;
Growth Hormone
;
Hip
;
Hip Joint
;
Humans
;
Hypothyroidism
;
Kidney Failure, Chronic
;
Lower Extremity
;
Obesity
;
Puberty, Precocious
;
Renal Osteodystrophy
;
Sexual Development
;
Slipped Capital Femoral Epiphyses
8.Association of Inter-Arm Systolic Blood Pressure Difference with Coronary Atherosclerotic Disease Burden Using Calcium Scoring.
Ae Young HER ; Kyoung Im CHO ; Scot GARG ; Yong Hoon KIM ; Eun Seok SHIN
Yonsei Medical Journal 2017;58(5):954-958
PURPOSE: There are no sufficient data on the correlation between inter-arm blood pressure (BP) difference and coronary atherosclerosis found using coronary artery calcium score (CACS). We aimed to investigate if the increased difference in inter-arm BP is independently associated with severity of CACS. MATERIALS AND METHODS: Patients who had ≥3 cardiovascular risk factors or an intermediate Framingham Risk Score (FRS; ≥10) were enrolled. Inter-arm BP difference was defined as the absolute difference in BP in both arms. Quantitative CACS was measured by using coronary computed tomography angiography with the scoring system. RESULTS: A total of 261 patients were included in this study. Age (r=0.256, p<0.001), serum creatinine (r=0.139, p=0.030), mean of right arm systolic BP (SBP; r=0.172, p=0.005), mean of left arm SBP (r=0.190, p=0.002), inter-arm SBP difference (r=0.152, p=0.014), and the FRS (r=0.278, p<0.001) showed significant correlation with CACS. The increased inter-arm SBP difference (≥6 mm Hg) was significantly associated with CACS ≥300 [odds ratio (OR) 2.17, 95% confidence interval (CI) 1.12–4.22; p=0.022]. In multivariable analysis, the inter-arm SBP difference ≥6 mm Hg was also significantly associated with CACS ≥300 after adjusting for clinical risk factors (OR 2.34, 95 % CI 1.06–5.19; p=0.036). CONCLUSION: An increased inter-arm SBP difference (≥6 mm Hg) is associated with coronary atherosclerotic disease burden using CACS, and provides additional information for predicting severe coronary calcification, compared to models based on traditional risk factors.
Angiography
;
Arm
;
Atherosclerosis
;
Blood Pressure*
;
Calcium*
;
Coronary Artery Disease
;
Coronary Vessels
;
Creatinine
;
Humans
;
Risk Factors
9.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
;
Asian Continental Ancestry Group/*genetics
;
Chromosomes, Human, X
;
Exons
;
Female
;
Humans
;
I-kappa B Kinase/*genetics
;
Incontinentia Pigmenti/*genetics/pathology
;
Polymerase Chain Reaction
;
Republic of Korea
;
*Sequence Deletion
10.A Case of Cardiac Tumor Associated with Tuberous Sclerosis in Newborn.
Yong Myung CHO ; Woo Seok KIM ; Nam Soo PARK ; Un Jun HYOUNG ; Eun Ryoung KIM ; Je Geun CHI
Journal of the Korean Pediatric Society 1995;38(2):275-279
Symptomatic primary heart tumors are rare in newborn. Cardiac rhabdomyoma is the most common lesion of the primary heart tumors and over half of them are related to kthe tuberous s clerosis. We described a case of cardiac rhabdomyoma, in a 2 day-old female newborn who presented with dyspnea and cyanosis. A 2D Echocardiogram demonstrated two masses; one is in the rt. ventricle and another is in the interventricular septum. Additional cardiac masses and cerebral tubers and subependymal giant cell astrocytoma were found at autopsy.
Astrocytoma
;
Autopsy
;
Cyanosis
;
Dyspnea
;
Female
;
Heart Neoplasms*
;
Humans
;
Infant, Newborn*
;
Rhabdomyoma
;
Tuberous Sclerosis*