• Journal of Genetic Medicine
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• v.4 no.2
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• pp.186-189
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• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• The Korean Society of Law and Medicine
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• v.20 no.3
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• pp.47-79
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• 2019

The Korean Society of Law and Medicine has faithfully played the role of professional academic organizations last 20 years in terms of academic activities, accumulated achievements, diversity, professionalism, and influence on academic circles. The Korean Society of Law and Medicine and the Journal of Medical Law serve as a platform for academic information and exchange of opinions on medical law. Medical law began in the midst of increasing conflicts and disputes caused by medical malpractice and the enactment and legal coercion of medical care as pressure on medical workers. It tried to find a way to coexist with each other through the encounter and convergence of medicine and law. Medical criminal law extends from traditional crimes in the realm of life and body protection to bioethics violations caused by the development of biomedical technology, corruption and economic crime in the medical field. Medical law has evolved into a comprehensive legal area dealing with legal issues raised in medical treatment, healthcare, bioethics, and life sciences technology. On the legal side, medical law is not independent legal areas. It is overlapping with traditional law areas such as civil law, administrative law, criminal law, social law, civil and criminal procedure law. However, it is now established as a convergence study in medicine, bioethics, life science, as well as in various fields of law. It has become an area where collaboration is needed with the field of law, medicine, ethics, sociology and economics. Medical criminal law has undergone a dynamic development over the last two decades. The development of medicine and medical technology provides new and innovative methods of diagnosis and treatment. The achievements and risks of revolutionary developments in biotechnology, genetic engineering and medicine coexist. While there is a dazzling achievement that mankind has hoped for: combating disease and improving health, it also creates unwanted side effects and risks to humans. There is a need to reconsider ethical and legal principles. The discovery and development of patient identity and autonomy has changed the medical doctor-patient relationship. Furthermore, it was complicated by the triangle relationship of patients, medical doctors and insurance. Legal matters are also complicated. This is why the necessity of legislation is emerging. Criminal punishment provisions are also required. The Medical Law and Biomedical Law are systematically and coherently deformed as mosaic-based legislation that takes place whenever there are social issues, citizens' needs, and medical organizations' interests, rather than sufficient enactment and revision procedures. It needs a complete overhaul, and this is possible through interdisciplinary collaboration which is the strength of The Korean Society of Law and Medicine.

• Childhood Kidney Diseases
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• v.8 no.2
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• pp.223-228
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• 2004

Purpose and Methods: Urinary tract infection(UTI) is one of the most important diseases of childhood, especially for young infants. To characterize the patients diagnosed with febrile UTI in their first 6 months of life and to explore the risk factors of recurrent UTI, a retrospective study was performed. Results: Among the 90 patients studied, 77 were boys(86%). First episodes of UTI were diagnosed at the age of $2.5{\pm}1.4$ months. These patients underwent ultrasonographic evaluation of urinary tract(n=90) and voiding cystourethrography(n=81) where 53 and 35 studies showed abnormal findings respectively, and a total of 45 cases of urinary tract anomaly including vesicoureteral reflux(VUR, n=35) were diagnosed. Normal findings on ultrasonography indicated decreased risk of VUR in boys of 1-3 months of age(n=30). 53 patients were followed up more than 6 months and 45 episodes of subsequent UTI developed in 29 patients during the first 6-month period. Patients with relapse were older than patients without relapse at the diagnosis of first UTI, but other clinical parameters including abnormal findings on the imaging studies and prophylactic antibiotics prescription were not different between the two groups. Conclusion: UTI in early infancy occurred mainly in male infants and half of the patients had structural anomalies. USG was of clinical value in detecting anomalies requiring surgical intervention, and to rule out high grade VUR in 1-3 months old boys. Results of the imaging study or prophylactic antibiotics could not modify the risk of recurrent UTI. (J Korean Soc Pediatr Nephrol 2004;8:223-228)

• Journal of Preventive Medicine and Public Health
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• v.36 no.3
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• pp.255-262
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• 2003

Objectives : We carried out tests for neurobehavior by using WHO-NCTB (neurobehavioral core test battery) and Perdue pegboard score test to identify differences between lacunar infarction cases and controls. Methods : Among the subjects who underwent MRI between February 2001 and March 2002 in a university hospital located in Seoul and who were diagnosed only as lacunar infarction without any intracranial disease, 46 patients were selected as cases (male: 21, female: 25). Controls were selected who had no cerebrovascular disease on MRI by matching age (5 years), gender, and education (2 years) in a ratio of 1:1 , Among WHO-NCTB, the following 5 tests and Perdue pegboard score test were used to categorize the study subjects: digit and symbol matching, simple reaction time, Benton visual retention, digit span, and Pursuit aiming test, Results : Among the above 6 tests of neurobehavior, lacunar infarction cases showed lower score than controls except for the simple reaction time test. As the controlling variables of multivariate analysis in the stepwise regression analysis, the followings were selected due to their significant association: age, education, BMI, gender, drinking, exercise, add systolic blood pressure. From multivariate regression analysis, there was significant difference (p<0.05) between lacunar infarction cases and controls in digit and symbol matching, Benton visual retention, digit span, pursuit aiming, and Perdue pegboard score test, but not in the score of simple reaction time test. Conclusions : We suggest that the above 5 tests for neurobehavior, with the exception of the simple reaction time test, might be used as the basis for recommendation of further treatment and other neurological tests by the earlier defection for neurological abnormality in lacunar infarction.

• Journal of Chest Surgery
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• v.32 no.5
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• pp.442-447
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• 1999

Introduction: Understanding the normal distribution of the tracheal diameter and crross- sectional area is one of the key elements in the management of various tracheal pathologies or tracheal reconstruction for the patients in growing age. However, data for Korean standard has been lacking. This study was designed to analyze retrospectively the distribution of tracheal diameter and cross-sectional area in young Koreans, which can afford fundamental data for the management of tracheal diseases. Material and Method: Of the patients who underwent computerized tomogram of the chest between May 1996 and August 1998, one hundred six young patients(age range: 0-20 years) were included. Patients with any conditions which might affect the tracheal cross-sectional area or diameter, such as tracheal disease, previous operation, mediastinal tumor, or obstructive lung disease were excluded from the study. Gender distribution was 69 males and 37 females. Tracheal diameters, anterior-posterior and transverse, were measured at the level of the thoracic inlet(level I) and the aortic arch(level II). Types of the trachea were divided into round, oval, or horseshoe shaped on cross-sectional view, and the dimension was calculated by using the equation of A=1/4$\pi$ab(A; area, $\pi$; 3.14, a; anterior-posterior diameter, b; transverse diameter). We analyzed the distribution of the diameter at each level and compared the cross-sectional area with respect to age and gender. A p-value lower than 0.05 wa considered significant. Result: The trachea of patients less than 5 years old were round in shape at both of level I and II, and no differences in cross-sectional area was observed between the levels(p=NS). As the age increased, the trachea become oval in shape at level I while it remained round in shape at level II(p=0.020). The tracheal diameter and cross-sectional area increased as the age increased with a linear correlation(r>0.9). In patients less than 5 years of age, female patients showed larger cross-sectional area than male patients (p=0.020), and it was reversed in patients older than 15 years of age(p=0.002). Conclusion: From the above results, we suggest chest computerized tomogram as a safe and reliable tool in measuring the tracheal diameter and cross-sectional area. We also provide the data as a standard for distribution of the tracheal diameter and cross-sectional area in young Korean population.

• Journal of Life Science
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• v.21 no.5
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• pp.647-655
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• 2011

The neurotoxicity of aggregated amyloid ${\beta}$ ($A{\beta}$) has been implicated as a critical cause in the pathogenesis of Alzheimer's disease (AD). It can cause neurotoxicity in AD by evoking a cascade of apoptosis to neuron. Here, we investigated the neuroprotective effects of cilostazol, which acts as a phosphodiesterase III inhibitor, on $A{\beta}_{25-35}$-induced cytotoxicity in mouse neuronal cells and cognitive decline in the C57BL/6J AD mouse model via peroxisome proliferator-activated receptor (PPAR)-${\gamma}$ activation. $A{\beta}_{25-35}$ significantly reduced cell viability and increased the number of apoptotic-like cells. Cilostazol treatment recovered cells from $A{\beta}$-induced cell death as well as rosiglitazone, a PPAR-${\gamma}$ activator. These effects were suppressed by GW9662, an antagonist of PPAR-${\gamma}$ activity, indicative of a PPAR-${\gamma}$-mediated signaling. In addition, cilostazol and rosiglitazone also restored PPAR-${\gamma}$ activity levels that had been altered as a result of $A{\beta}_{25-35}$ treatment, which were antagonized by GW9662. Furthermore, cilostazol also markedly decreased the number of apoptotic-like cells and decreased the Bax/Bcl-2 ratio. Intracerebroventricular injection of $A{\beta}_{25-35}$ in C57BL/6J mice resulted in impaired cognitive function. Oral administration of cilostazol (20 mg/kg) for 2 weeks before $A{\beta}_{25-35}$ injection and once a day for 4 weeks post-surgery almost completely prevented the $A{\beta}_{25-35}$-induced cognitive deficits, as did rosiglitazone. Taken together, our findings suggest that cilostazol could attenuate $A{\beta}_{25-35}$-induced neuronal cell injury and apoptosis as well as promote the survival of neuronal cells, subsequently improving cognitive decline in AD, partly because of PPAR-${\gamma}$ activation. The phosphodiesterase III inhibitor cilostazol may be the basis of a novel strategy for the therapy of AD.

• Tuberculosis and Respiratory Diseases
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• v.47 no.1
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• pp.57-65
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• 1999

Backround : Pneumoconiosis is the parenchymal lung disease that results from the inhalation and deposition of dust, usually mineral dust of occupational or environmental origin. Most of the pneumoconiosis can be categorized to coal workers' pneumoconiosis (CWP) in Korea. No effective treatement is currently available, and the therapy for symptomatic CWP is limited to treatment of complication. Therefore authors analyzed and reviewed clinical features and radiological findings of 95 patients with pneumoconiosis for assessing the prognostic factors in disease progression. Method: We reviewed medical records of 95 cases with pneumoconiosis including history, chest X-ray, pulmonary function test, electrocardiography, AFB stain and culture of sputum, and routine blood examination between June 1995 and June 1997 in Seonam University Namkwang Hospital. Results: All of cases are male(mean age, 57.4 years), 91 cases out of them are miners. The mean duration of exposure to dust is 18.8 years. Major clinical symptoms are dyspnea (100%), sputum (71.6%), chest pain (55.8%), cough (23.2%), and hemoptysis (6.3%). 82 % of cases are over Morgan-Seaton Grade 2 in the degree of dyspnea. Small opacity on chest x-ray is 82.1 % and large opacity is 17.9%. Small opacity has tit type (37.2%), q/q type (25.6%) and r/r type (11.5%). B type is 42.2% in large opacity. For the pulmonary function test, restrictive type is 40.3%, mixed type 19.5% and obstructive type 8.3%. The more increasing chest Xray density, the more decreasing $FEV_1$ (p<0.01). 38% of patients show tuberculosis in chest X-ray, 15.8% positive smear of acid fast bacilli in sputum. The prevalence of pulmonary tuberculosis is high in patients with poor clinical condition. The cases with the active pulmonary tuberculosis have severe dyspnea. Expired cases show 100% and 75% of positive pulmonary tuberculosis in chest X-ray and sputum examination, respectively. 75% of expired cases show the chronic cor pulmonale, who died of acute respiratory failure. Conclusion: These findings indicate that tuberculoois infection has a decisive influence on the progress and prognoois of pneumoconioois.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1241-1246
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• 2007

Purpose : Recently, there has been several studies to clarify the pathogenesis of Kawasaki disease (KD) and the relations of VEGF and endostatin that act on vascular endothelial cells to the coronary artery complications. In this report, we measured serum levels of VEGF and endostatin in acute and subacute phases of KD to assess the change of these levels and the relations to the development of coronary artery lesions (CAL). Methods : Twenty six patients were diagnosed and treated for KD between January, 2001 and July, 2005 at Kangnam St. Mary's Hospital, the Catholic University of Korea. They were divided into those with and without CAL. Serum levels of VEGF and endostatin were measured during acute and subacute phases and compared to those measured in healthy and disease control groups. Results : Serum levels of VEGF were increased in KD but no differences were noted in KD with and without CAL. Serum levels of endostatin were decreased in the acute phase of KD, however they were recovered in the subacute phase of KD, regardless of CAL. The VEGF/endostatin ratio was increased in KD. KD without CAL showed a relative decrease in this ratio during the subacute phase. Significant positive correlations were found between serum VEGF and WBC count, VEGF and ESR, VEGF/endostatin ratio and ESR in the acute phase of KD. Conclusion : Analysis of factors influencing the vascular endothelium such as VEGF and endostatin will help to clarify the etiology of KD and the pathogenesis of CAL.

• Neonatal Medicine
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• v.16 no.1
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• pp.25-35
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• 2009

Purpose: The characteristics of hospitalized patients in neonatal intensive care units (NICUs), including hospitalization costs (HC) and National Health Insurance (NHI) status were studied. Methods: We gathered the following data from 7 hospitals in Korea during 2006: the distribution of patients according to birth weight (BW), and the duration of the hospital stay according to BW and He. Results: The patients who were admitted to the NICU consisted of high-risk neonates, including low birth weight or premature neonates, which comprised 50% of all neonates admitted to the NICU. The duration of hospitalization was 75-90 days for neonates with BW <1,000 g, 45-60 days for neonates with BW between 1,000 and 1,499 g, and approximately 15 days for neonates with BW between 2,000 and 2,499 g. The portion of the HC covered by the NHI was 77.1%, 22.9% of the total HC was not covered by the NHI (19.5% was included in the list, but not covered by the NHI and 3.4% was not listed, but covered by the NHI). The average total HC per person was 4,360,000 won, and the HC covered and not covered by the NHI were 3,677,000 won and 1,007,000 won, respectively. The mean HC were as follows; 35,000,000 won for a BW <500 g, 18,000,000 won for a BW between 500 and 999 g, 16,000,000 won for a BW between 1,000 and 1,499 g, and 4,200,000 won for a BW between 1,500 and 1,999 g. Conclusion: Not only premature, but also ill neonates were under the care of the NICU. The HC increased as the BW decreased and the hospitalization period increased. The proportion of the patient's financial burden is >25% of the total He. For this matter, additional NHI is needed.

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.215-221
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• 2009

Purpose : Thymus is a lymphoproliferative organ that changes size in various physiological states in addition to some pathological conditions. Thymus is susceptible to involution, and shows a dramatic response to severe stress. Thymic measurements may be helpful in various diseases. UTI (urinary tract infection) is most common bacterial infection in infants and VUR (vesicoureteral reflux) is a common abnormality associated with UTI. In our study, the size of thymus was compared on the premise that a greater stress is exerted on the body when UTI is accompanied by VUR, than when occurs on its own. Methods : Thymic size was measured on standard chest anteroposterior radiographs and expressed as the ratio between the transverse diameter of the cardiothymic image at the level of the carina and that of the thorax (CT/T). The medical records of 99 febrile urinary tract infection infants without other genitourinary anomalies except VUR were reviewed retrospectively. Results : Among 99 patients with febrile UTIs, 25 were febrile UTI without VUR and 74 with VUR. For the UTI with VUR group, there was a significant decrease in the thymic size compared to the those without VUR group ($0.382{\pm}0.048$ vs $0.439{\pm}0.079$, P<0.05). However, there were no differences in the duration of fever and WBC, CRP between the UTI with VUR and UTI without VUR. In addition, there were no differences in the cardiothymic/thoracic ratios between renal defects and renal scars in febrile UTI patients. Conclusion : The results of this study show that the shirinkage of thymus was more frequently found in the UTI patients with VUR. Therefore, awareness of the risks associated with thymic size is important for the appropriate work up and management of UTI patients.