1.A Case of Microscopic Polyangiitis with Acute Myocardial Infarction.
Kyeong Han YOON ; Dae Hwan KIM ; Kyeong Han YOON ; Eun So LEE ; You Chan KIM
Annals of Dermatology 2002;14(3):181-185
Microscopic polyangiitis is a systemic small-vessel vasculitis, which may involve multiple organs, but cardiac involvement is relatively rare. We report a case of microscopic polyangiitis with multiple organ involvement, in which myocardial infarction was the early manifestation of the disease. A 53-year-old man presented with sudden papulovesicular eruptions and swellings on the face, posterior neck, dorsa of both hands and fingers, and with diffuse erythematous patches on the back. He had suffered from renal dysfunction, arthralgia, and hypertension for more than 8 years. He had been admitted to the department of cardiology for acute myocardial infarction and had suffered from recurrent gastrointestinal bleeding, renal failure, acute pancreatitis and sepsis during the admission. Histopathologically, small-vessel leukocytoclastic vasculitis with out granuloma was seen. Direct immunofluorescence showed no immune deposite. A high serum level of P-ANCA was detected by ELISA.
Acute Kidney Injury
;
Antibodies, Antineutrophil Cytoplasmic
;
Arthralgia
;
Cardiology
;
Enzyme-Linked Immunosorbent Assay
;
Fingers
;
Fluorescent Antibody Technique, Direct
;
Granuloma
;
Hand
;
Hemorrhage
;
Humans
;
Hypertension
;
Microscopic Polyangiitis*
;
Middle Aged
;
Myocardial Infarction*
;
Neck
;
Pancreatitis
;
Sepsis
;
Vasculitis
2.A asymptomatic rectal endometriosis with endometrial cyst.
Hyoung Min CHOI ; Sung Ki LEE ; Yoon Ho LEE ; Dong Hoon HWANG ; So Yeon PARK
Korean Journal of Obstetrics and Gynecology 1992;35(11):1679-1685
No abstract available.
Endometriosis*
;
Female
3.Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene
So Yoon JUNG ; Jeongho LEE ; Dong Hwan LEE
Annals of Pediatric Endocrinology & Metabolism 2020;25(1):57-62
Thyroid hormones are crucial for development of the central nervous system. Congenital hypothyroidism (CH) is the most common preventable disease resulting in mental retardation. A neonatal screening test (NST) can detect a mild form of CH that can be treated at an early age. Generally after 3 years of age, when most of the brain has matured, clinicians consider reevaluation of thyroid function for CH patients that have been identified with a normal thyroid gland at a normal position. This report presents three CH patients that developed normally, with persistent goiter despite thyroid hormone supplements. The patients’ initial thyroid-stimulating hormone (TSH) level after NST was 47, 157, and 57 mIU/L, respectively. Levothyroxine administration began at 1 or 2 months of age and was terminated after reevaluation at the age of 3, 15, and 5 years, respectively. However, 1 or 2 years later, they all resumed their medication due to increased TSH level coupled with newly developed or enlarged goiter. They all showed dual oxidase maturation factor 2 (DUOXA2) gene mutation: a homozygous mutation with DUOXA2 (c.413dupA; p.Tyr138*) in case 1, a presumed compound heterozygotic mutation with DUOXA2 (p.Tyr138*/p.Tyr246*) in case 2, and heterozygous mutations with DUOXA2 (c.738C>G; p.Tyr246*) and TPO (c.2268dupT; p.Glu757*) in case 3. When goiter persists or is newly developed despite a maintained euthyroid status, for those with transient CH history, follow-up to assess the thyroid function is recommended for at least 1 or 2 years, and genetic testing would be helpful. This study presents the first clinical cases of DUOXA2 mutation in Korea.
4.A case with GRIN2A mutation and its non-neurological manifestations
Soo Yeon LEE ; So Yoon JUNG ; Jeongho LEE
Journal of Genetic Medicine 2020;17(2):79-82
In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063*, respectively) and we consider the nonsense mutation as ‘pathogenic variant’. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke’s cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.
5.Clinical characteristics and progress of Kawasaki disease patients who had early treatment with intravenous immune globulin.
Korean Journal of Pediatrics 2007;50(10):1005-1010
PURPOSE: To determine the optimal time of high dose intravenous immune globulin (IVIG) treatment, we analysed the clinical characteristics and progress of a group of Kawasaki disease patients who had early treatment with IVIG. METHOD: A retrospective study was conducted of 188 patients with Kawasaki disease who were admitted to Yeungnam University Medical Center from January 2000 to December 2005. All patients were treated with a high dose IVIG and high dose aspirin for the initial acute phase treatment. The early treatment group consisted of 94 patients who received treatment before 5 days of fever, and the conventional group consisted of 94 patients who were treated on or after day 5. The patients' sex, age, laboratory findings, total duration of fever, duration of fever after initial IVIG, need for additional IVIG and coronary artery status were noted. RESULT: There were no significant differences between the two groups in sex ratio and age. No significant differences were noted in the level of WBC count, ESR, CRP, serum albumin, LDH, total duration of fever and coronary abnormality. But the value of ALT(151.8+/-17.3 vs. 81.9+/-13.4, P=0.002), duration of fever after initial IVIG (3.8+/-0.5 days vs. 2.1+/-0.2 days, P=0.003), and rate of additional IVIG (15.9% vs. 6.3%, P=0.037) were significantly higher in the early treatment group. There was no significant difference in initial dose of IVIG, but dosage of aspirin was lower in early treatment group (P=0.037). CONCLUSION: There is no evidence that early treatment of IVIG has greater efficacy in preventing cardiac sequelae than conventional treatment. In addition, early treatment is likely to result in a greater requirement for additional IVIG treatment.
Academic Medical Centers
;
Aspirin
;
Coronary Vessels
;
Fever
;
Humans
;
Immunoglobulins, Intravenous*
;
Mucocutaneous Lymph Node Syndrome*
;
Retrospective Studies
;
Serum Albumin
;
Sex Ratio
6.Legislation Direction for Health Information Privacy in the Telemedicine Era.
Eun Ja LEE ; So Yoon KIM ; Young Moon CHAE
Journal of Korean Society of Medical Informatics 2009;15(4):361-371
The Korean law on medicine was amended in 2003 to introduce new provisions for telemedicine, electronic medical record, and electronic prescription. However, this has not satisfied the realities of the increased demand on medical services and related technology development, resulting in calls for a legislative amendment. In this regard, recent active promotion projects and the advance notice proposing a new amendment by the Ministry of Health, Welfare, and Family Affairs have raised the need for active discussions on telemedicine because the current law on medicine and its amendment do not adequately address the individual privacy protection aspect in the telemedicine environment. In this regard, this study examines current domestic and foreign legal systems on telemedicine and privacy protection, drawing and reviewing subjects to be discussed for individual privacy protection in telemedicine, and proposes plans that may improve Korea's legal system. The domestic and foreign literature on telemedicine and privacy protection was reviewed, recent legislations on telemedicine and views of interest groups were considered, and expert opinions were collected. In addition, the main discussions on privacy protection in telemedicine were identified and reviewed, including information ownership, the scope of privacy protection, the right to review and request correction, and privacy protection matters related to foreign patients. The recent amendment to tele medicine contains a provision only on penalties for privacy protection violations. The main discussions in this study on privacy protection are expected to be reflected in future amendments to enforcement rules and sub-ordinances such as the enforcement ordinance.
Electronic Health Records
;
Electronic Prescribing
;
Expert Testimony
;
Humans
;
Jurisprudence
;
Ownership
;
Privacy
;
Public Opinion
;
Telemedicine
7.Neuroradiological Findings in a Case of Menke's Disease.
So Hee CHUNG ; Mun Hyang LEE ; Hye Kyung YOON ; Bo Kyung KIM ; Hee Jung CHUNG
Journal of the Korean Child Neurology Society 1998;6(1):106-112
Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography
;
Atrophy
;
Brain
;
Central Nervous System
;
Ceruloplasmin
;
Copper
;
Diagnosis
;
Early Diagnosis
;
Hair
;
Hematoma, Subdural
;
Humans
;
Liver
;
Magnetic Resonance Imaging
;
Male
;
Menkes Kinky Hair Syndrome
;
Metabolism
;
Muscle Hypotonia
;
Neurodegenerative Diseases
;
Rupture
;
Seizures
;
Thrombosis
8.Significanse of Renal Ultrasonography and MAG3 (Technetium-99m-Mercaptoacetyltriglycerine) Scan in Hydronephrosis during Infancy.
So Young LEE ; Kun Suk KIM ; Dae Hyuk MOON ; Chong Hyun YOON ; Young Seo PARK
Korean Journal of Nephrology 1998;17(4):574-582
A prospective study had been performed in infants with hydronephrosis due to ureteropelvic junction stenosis to determine adequate management plan. Forty infants (47 renal units) were selected for the study during the period from January 1995 to July 1997 in the Department of Pediatrics, Asan Medical Center. They were diagnosed prenatally or early postnatally (<3 months of age) on the basis of renal ultrasonography and techotium-99m-mercap- toacetyltriglycerine (MAG3) scan. The antero-poste- rior pelvic diameter (APPD) was measured from serial renal ultrasonography and relative renal function and clearance half time (T1/2) were calculated from serial MAG3 scan. Those who had accompanying other urogenital anomalies or vesicoureteral reflux were excluded in this study. Follow-up tests (ultrasonography and MAG3 scan) and surgical corrections, if necessary, were performed according to the predetermined algorithrn. The male to female ratio was 3: 1. Hydronephrosis was involved the left side in 24 renal units, the right side in 9 renal units, and the bilateral sides in 14 renal units. All the hydronephrotic renal units were divided into 2 groups; Group A (19 renal units) those had taken surgical correction, and group B (28 renal units) those revealed spontaneous improvement without surgical correction. The mean follow-up duration was 7.2+/-6.3 months in group A and 14.1+/-12.6 months in group B. The mean APPD in the first postnatal renal ultrasonography was 19.4+6.8 mm in group A and 10.0+/-3.0mm in group B and this was statistically significant (P<0.01). The rela- tive renal function of group A in the first MAG3 scan was under 35% in 7 renal units and over 35M in 12 renal units. In group B, the relative renal function was over 35% in the all 28 renal units. Tl/2 in the first MAG3 scan was longer than 20 minutes in the all 19 renal units in group A. In group B, Tl/2 was shorter than 10 minutes in 15 renal units, between 10 minutes and 20 minutes in 6 renal units, and longer than 20 rninutes in 7 renal units. The mean APPD of the 7 renal units in group B of which Tl/2 was longer than 20 minutes was 12.62.6mm and that of group A was 19.4+/-6.8mrn and this was statistically significant (P<0.01). In conclusion, the renal ultrasonography and MAG3 scan can be used effectively to determine the degree of the stenosis of the ureteropelvic junction in hydronephosis during infancy. When the babies are diagnosed with hydronephrosis due to ureteropelvic junction stenosis in the early infantile period, serial renal ultrasonography and MAG3 scan play an important role in the decision of the management.
Chungcheongnam-do
;
Constriction, Pathologic
;
Female
;
Follow-Up Studies
;
Humans
;
Hydronephrosis*
;
Infant
;
Male
;
Pediatrics
;
Ultrasonography*
;
Vesico-Ureteral Reflux
9.Clinical Evaluation of Stable Thoracolumbar Vertebral Fractures
Sae Yoon KANG ; Chang Joo LEE ; Ik Youl CHANG ; Byoung Kyoum SO
The Journal of the Korean Orthopaedic Association 1976;11(2):162-168
One hundred and fifteen thoracolumbar vertebrel fractures Out. of 85 patients were avaluated in this study. In 97 cases out of 65 patients, angular deformity and loss of height of the fractured vertebral bodies were measured, and for 6. 3 months in average follow up study was made in 23 cases out of 18 patients. The angular deformity became increased from 18.4 degrees to 21. 0 degrees wheroas loss of height has also increased from 38.6 to 40.8%, showing little statical value. Incidence was higher in male than in female without seasonal differences. Age incidence ranged from 16 to 78, and most frequent in third and fourth decades. Causes of injury were industrial accident, traffic accident, home accident and fall from height. Location of injury was mainly twelfth thoracic and first lumbar vertebrae. As associated injury, fracture of the rib, ulna, malleolus and calcaneus in order. Conservative treatment was a method of choice, while operstive treatment was performed in 7%.
Accidents, Home
;
Accidents, Occupational
;
Accidents, Traffic
;
Calcaneus
;
Congenital Abnormalities
;
Female
;
Follow-Up Studies
;
Humans
;
Incidence
;
Lumbar Vertebrae
;
Male
;
Methods
;
Ribs
;
Seasons
;
Ulna
10.Selective Neurectomy of Medial Gastrocnemius Muscle for the Calf Reduction.
Dong Ju YOON ; So Min HWANG ; Jong Hyun KIM ; Jin LEE ; Yong Chan BAE
Journal of the Korean Society of Aesthetic Plastic Surgery 2001;7(2):146-150
No abstract available.
Muscle, Skeletal*