BACKGROUND: Alpha-1-antitrypsin (A1AT) deficiency is the only established genetic resk factor for emphysema. This study was undertaken to investigate the prevalence of the genotypes of A1AT genotypes in healthy Koreans. METHOD: The study population consisted of 380 healthy Koreans enrolled at the Health Promotion Center in Kyungpook National University Hospital. The polymerase chain reaction (PCR) and restriction fragment length polymorphim (RFLP) for detecting the A1AT variants M1(Ala), M1(Val), M2, S and Z were used. RESULTS: The genotypes of subjects were as follows : M1(Val)/M1(Val), 254(66.8%) ; M1(Val)/M2, 105(27.6%) ; M2/M2, 19 (5.0%) ; and M1(Val)/M1(Ala), 2 (0.5%). There was no case with 'deficiency' alleles such as S and Z found in this study. CONCLUSION: These results suggest that A1AT deficient alleles are either extremely rare or not present in Koreans.
Alleles ; Emphysema ; Genotype* ; Gyeongsangbuk-do ; Health Promotion ; Polymerase Chain Reaction ; Prevalence*

BACKGROUND: Non-small lung cancer(NSCLC) develops as a result of the accumulation of multiple genetic abnormalities. Loss of heterozygosity(LOH) is one of the most frequent genetic alterations that is found in NSCLC, and the chromosomal regions that display a high rate of LOH are though to harbor tumor suppressor genes(TSGs). This study was done to determine the frequency of LOH in 21q with the aim of identifying potential TSG loci. METHOD: Thirty-nine surgically resected NSCLCs were analysed. Patietns peripheral lymphocytes were used as the source of the normal DNA. Five microsatellite markers of 21q were used to study LOH : 21q21.1(D21S1432, and D21S1994) ; 21q21.2-21.3(D21S1442) ; 21q22.1(21S1445) ; and 21q22.2-22.3(D21S266). The fractional allelic loss(FAL) in a tumor was calculated as the ratio of the number of markers showing LOH to the number of informative markers. RESULT: LOH for at least one locus was detected in 21 of 39 tumors(53.8%). Among the 21 tumors with LOH, 5(21.8%) showed LOH at almost all informative loci. Although statistically not significant, LOH was found more frequently in squamous cell carcinomas(15 of 23, 65.2%) than in adenocarcinomas(6 of 16, 37.5%). In the squamous cell carcinomas the frequency of LOH was higher in stage II-III (80.0%) than in stage I (53.8%). The FAL value in squamous cell carcinomas(0.431±0.375) was significantly higher than that found in adenocarcinomas(0.192±0.276). CONCLUSION: These results suggest that LOH on 21q may be involved in the development of NSCLC, and that TSG(s) that contribute to the pathogenesis of NSCLC may exist on 21q.
Arm* ; Carcinoma, Non-Small-Cell Lung* ; Carcinoma, Squamous Cell ; Chromosomes, Human, Pair 21* ; DNA ; Loss of Heterozygosity* ; Lung ; Lymphocytes ; Microsatellite Repeats

BACKGROUND: Lung cancer is frequently cited as an example of a disease caused solely by exposure to environmental caricinogens. However, there is a growing realization that the genetic constitution is also important in determining individual's susceptibility to lung cancer. This genetic susceptibility may result from functional polymorphims of the genes involved in carcinogen metabolism. In this study, the association between GSTM1 and CYP1A1 polymorphisms and the lung cancer risk in Korean males was investigated. MATERIALS AND METHOD: The study population consisted of 153 male lung cancer patients and 143 healthy male controls. The GSTM1 and CYP1A1 genotypes were determined by multiplex PCR and PCR-RELP analysis. RESULT: The were no significant differences in the frequency of the GSTM1 null genotype between the cases and the controls. When the cases were categorized by their histologic type, the frequency of the GSTM1 null genotype in the small cell carcinoma group was higher than those of the controls(67.2% vs 55.9%), but the difference was not statistically significant(OR=1.772 ; 95% CI=0.723-4.340). The distribution of the CYP1A1 MspI genotypes among the cases were similar to those among the controls. When the cases were grouped by their histologic type, the m1/m1, m1/m2, m2/m2 genotypes frequencies among the small cell carcinomas(23.0%, 38.5%, and 38.5%, respectively) were significantly different from those of the controls(36.4%, 46.2%, and 17.4%, respectively, p<0.05). When the m1/m1 genotype was used as a reference, the m1/m2 and m2/m2 genotypes were associated with an increased risk for small cell lung cancer(m1/m2 genotype : OR=1.337, 95% CI=0.453-3.947 ; m2/m2 genotype : OR=3.374, 95% CI=1.092-10.421). CONCLUSION: These results suggest that the GSTM1 and CYP1A1 genotypes may be a genetic determinant of the risk for lung cancer, particlulary small cell carcinoma. Further investigation is needed to confirm these results.
Carcinoma, Small Cell ; Constitution and Bylaws ; Cytochrome P-450 CYP1A1* ; Genetic Predisposition to Disease ; Genotype ; Humans ; Lung Neoplasms* ; Lung* ; Male* ; Metabolism ; Multiplex Polymerase Chain Reaction

Hemophagocytic lymphohistiocytosis(HLH) is a rare and fatal disorder in children. Persistent fever, hepatosplenomegaly and pancytopenia are observed in the most cases with the characteristic change of serum triglyceride, fibrinogen, ferritin and LDH level. CNS manifestation were developed in 50-70% of HLH. 20% of cases revealed seizure and irritability at diagnosis. Abnormalities on brain imaging, such as diffuse white matter abnormalities and necrotic area with parenchymal volume loss appeared to roughly parallel the severity of clinical manifestations. In HLH, EBV is the major triggering agent inducing hemophagocytosis as well as the fulminant course of disease. Many cases of EBV-HLH had monoclonal origin and respond well to etoposide-containing regimens. Early induction of an etoposide based regimen is critical factor in securing long-term survival in patients with EBV-HLH. We report a case that 13 year-old female patient with seizure and loss of consciousness was diagnosed as EBV-HLH and treated with protocol HLH-94 consistd of etoposide, dexamethasone, cyclosporin.
Adolescent ; Central Nervous System ; Child ; Cyclosporine ; Dexamethasone ; Diagnosis ; Etoposide ; Female ; Ferritins ; Fever ; Fibrinogen ; Herpesvirus 4, Human ; Humans ; Lymphohistiocytosis, Hemophagocytic* ; Neuroimaging ; Pancytopenia ; Seizures* ; Triglycerides ; Unconsciousness*

Hepatitis A is usually a mild, self-limiting illness, but in certain cases it can develop into a severe or fatal disease. The most common symptoms of acute hepatitis A virus (HAV) infection are fever, myalgia, nausea, vomiting, jaundice, and abdominal pain. Extrahepatic symptoms are rare, especially neurologic manifestations. We investigated a 34-year-old male who presented after suffering two days of fever, chills and general myalgia. His condition gradually deteriorated and he developed sudden blindness on day nine. This blindness lasted for 20 min and at this point abnormal brain images were observed. Initial tests for immunoglobulin M anti HAV were negative. These tests were repeated, later confirming acute HAV infection. After conservative management, the individual fully recovered. We report this extremely rare acute HAV infection case with metabolic encephalopathy exhibiting transient blindness.
Abdominal Pain ; Adult ; Blindness ; Brain ; Brain Diseases, Metabolic ; Chills ; Fever ; Hepatitis ; Hepatitis A ; Hepatitis A Antibodies ; Hepatitis A virus ; Humans ; Immunoglobulin M ; Jaundice ; Male ; Nausea ; Neurologic Manifestations ; Stress, Psychological ; Vomiting

This study was performed to assist in the prediction of the clinical tolerance of patients with lung cancer to irradiation. MATERIALS AND METHODS: The changes in lung function of 26 patients with lung carcinomas, who had received radiation with curative intent, or postoperative adjuvant radiotherapy, were prospectively studied. Their pulmonary function tests were conducted at presentation, and then at 2 weeks, 2 months, and 6 months, following radiotherapy. RESULTS: When the parameters of postirradiation pulmonary functions (2 weeks, 2 months and 6 months) were compared with the preirradiation baseline data, there was a statistically significant decrease in FEF25~75% at 2 months, but the rest of the parameters showed no significant change following irradiation. However, when the baseline lung function was compared with the lung function at the lowest FVC, in patients with curative radiotherapy, there was a statistically significant decrease of about 10% in the FEV1 and DLCO. CONCLUSION: Preirradiation assessment of pulmonary functions, particularly the FEV1 and DLCO will be useful for the prediction of the clinical tolerance to irradiation.
Humans ; Lung Neoplasms* ; Lung* ; Prospective Studies ; Radiotherapy ; Radiotherapy, Adjuvant ; Respiratory Function Tests

DWP208 is a sodium succinate form of ZYM-201 which is a triterpenoid glycoside isolated from Sanguisorba officinalis, a medicinal plant prescribed for various diseases, such as duodenal ulcers and bleeding in East Asian counties. We demonstrated that this compound is able to normalize the altered lipid metabolism induced by hyperglycemia and a high fat diet. In this study, we determined whether hyperlipidemic conditions induced with chronically treated alcohol can also be restored by DWP208. Similar to our previous results, orally administered DWP208 (1 to 10 mg/kg) also ameliorated the hyperlipidemia that was induced by alcohol. This compound reversed the alcohol-induced hyperlipidemia including (i) up-regulated hyperlipidemic parameters such as low-density lipoprotein (LDL), very low-density lipoprotein (VLDL), atherosclerotic index (AI), triglyceride, and total cholesterol, and (ii) down-regulated hyperlipidemic parameters such as absolute body weight, superoxide dismutase (SOD) activity, and high-density lipoprotein (HDL) in serum and liver. According to our data, the ameliorative activity of DWP208 is due to its indirect anti-oxidative activity as a result of which lipid peroxide and hydroxyl radical levels were reduced and the activity of SOD was enhanced. Therefore, our data strongly suggest that DWP208 can be used as a remedy against alcohol-induced hyperlipidemia.
Asian Continental Ancestry Group ; Body Weight ; Cholesterol ; Diet, High-Fat ; Duodenal Ulcer ; Hemorrhage ; Humans ; Hydroxyl Radical ; Hyperglycemia ; Hyperlipidemias* ; Lipid Metabolism ; Lipoproteins ; Liver ; Plants, Medicinal ; Sanguisorba ; Sodium* ; Succinic Acid* ; Superoxide Dismutase ; Triglycerides

Background: There has been no comparison of the determinants of admission route between acute ischemic stroke (AIS) and acute myocardial infarction (AMI). We examined whether factors associated with direct versus transferred-in admission to regional cardiocerebrovascular centers (RCVCs) differed between AIS and AMI. Methods: Using a nationwide RCVC registry, we identified consecutive patients presenting with AMI and AIS between July 2016 and December 2018. We explored factors associated with direct admission to RCVCs in patients with AIS and AMI and examined whether those associations differed between AIS and AMI, including interaction terms between each factor and disease type in multivariable models. To explore the influence of emergency medical service (EMS) paramedics on hospital selection, stratified analyses according to use of EMS were also performed. Results: Among the 17,897 and 8,927 AIS and AMI patients, 66.6% and 48.2% were directly admitted to RCVCs, respectively. Multivariable analysis showed that previous coronary heart disease, prehospital awareness, higher education level, and EMS use increased the odds of direct admission to RCVCs, but the odds ratio (OR) was different between AIS and AMI (for the first 3 factors, AMI > AIS; for EMS use, AMI < AIS). EMS use was the single most important factor for both AIS and AMI (OR, 4.72 vs. 3.90). Hypertension and hyperlipidemia increased, while living alone decreased the odds of direct admission only in AMI;additionally, age (65–74 years), previous stroke, and presentation during non-working hours increased the odds only in AIS. EMS use weakened the associations between direct admission and most factors in both AIS and AMI. Conclusions Various patient factors were differentially associated with direct admission to RCVCs between AIS and AMI. Public education for symptom awareness and use of EMS is essential in optimizing the transportation and hospitalization of patients with AMI and AIS.