No abstract available.
Spinal Muscular Atrophies of Childhood*

PURPOSE: This study is to evaluate orbital rim uptake on bone scan and to discuss their clinical significance. MATERIALS AND METHODS: From January 2011 to August 2013, 3149 cases of bone scans were analyzed to check for existence of uptake abnormalities in the orbital rim with relative size and position. The bone scans were compared with either positron emission tomography-computed tomography (PET/CT) or computed tomography (CT). For cases without other imaging examinations, comparisons were made with other bone scans. RESULTS: In total, 13 cases of the orbital rib uptake were ultimately evaluated. In 6 cases, the intake abnormalities of the orbital rim appeared in superior lateral aspect of the orbital rim to occupy the highest frequency (46.2%). Distinctively, bone scans showed no abnormal uptake in medial and inferior aspect of orbital rim. The 10 cases are compared with PET/CT or CT and as a result, there are no abnormalities that correspond to the orbital lesions of bone scans. The 3 cases were compared with other bone scans and no changes in the orbital lesions were confirmed between the bone scans. CONCLUSION There is an unilateral, small, focal orbital rim uptake on bone scans to be possibility of nonspecific benign lesions.

OBJETIVE: To investigate the efficacy of high infusion frequency of liquid nitrogen on pregnancy in human embryo after freezing and thawing. MATERIALS AND METHODS:: 150 infertile patients underwent 162 consecutive thawing-ET cycles. In the high infusion frequency group (Group A), 47 patients (50 cycles) underwent cryopreservation with high infusion frequency of liquid nitrogen. In the low infusion frequency group (Group B), 103 patients (112 cycles) underwent cryopreservation with low infusion frequency of liquid nitrogen. We analyzed the clinical characteristics, fertilization rates, development of embryo, good quality embryo ratio, implantation rates, and pregnancy rates between these two groups. RESULTS: There was no difference between the groups with regard to clinical characteristics (mean age, infertility duration, infertility factors, hormone profile), mean number of oocyte retrieval, fertilization rates, and mean embryo number of transfers. The survival rates in group A was 64.9% (228 of 350 embryos), and among the 228 embryos 190 embryos (83.3%) which progressed to the two- to eight-cell stage. After thawing, the embryo numbers were 65 (34.2%), 29 (15.3%), 35 (18.4%), and 37 (19.5%) of grades 1, 2, 3, and above 4, respectively. The survival rates in group B was 63.8% (482 of 755 embryos), and among the 482 embryos 465 embryos (96.5%) which progressed to the two- to eight-cell stage. After thawing, the embryo numbers were 106 (22.8%), 94 (20.2%), 89 (19.1%), and 112 (24.1%) of grades 1, 2, 3, and above 4, respectively. There was no difference in embryo quality change after the freezing-thawing procedure between the groups. Implantation rates (31.1% vs. 34.3%) were not significant. However hCG positive rates in group A (40%) were higher than group B, but not statistically significant. Clinical pregnancy rate (26% vs. 25.9%), on going pregnancy rates (>20 weeks) were not significant (26% vs. 25%). CONCLUSION: We compared embryo quality change, survival rates, and pregnancy rates between high infusion frequency group and low infusion frequency group and the results were similar between the two groups. Therefore, high infusion frequency of liquid nitrogen for cryopreservation is a worthy method to preserve in human embryos.
Cryopreservation ; Embryonic Development* ; Embryonic Structures* ; Female ; Fertilization ; Freezing* ; Humans* ; Infertility ; Nitrogen* ; Oocyte Retrieval ; Pregnancy ; Pregnancy Rate* ; Pregnancy* ; Survival Rate

Understanding depth of anesthesia is essential for the anesthesiologist. Although electroencephalogram (EEG) has been proposed and studied as a method of determining anesthetic depth, major limitations restrict its usefulness. For example, spectral edge frequency (SEF) dose not correlate well with the level of sedation. However, recently introduced bispectral index (BIS) which is derived from frequency, amplitude and coherence of the EEG is strongly correlated with clinical measurements of sedation and hypnosis. BIS monitoring may be used to guide the titration of anesthetic agents to achieve effective dosing without increasing the risk of awareness and to allow a better balance of hypnotic and analgesic administration. We report two cases of successful BIS monitoring for the measurement of intraoperative hypnotic state of patient during propofol target controlled infusion (TCI).
Anesthesia ; Anesthesia, General* ; Anesthetics ; Electroencephalography ; Humans ; Hypnosis ; Propofol*

Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause acute pain, hospitalization, immobilization, and slow recovery in patients and are associated with increased mortality. A variety of genetic studies have suggested associations of genetic variants with the risk of OF. Genome-wide association studies have reported various single-nucleotide polymorphisms and copy number variations (CNVs) in European and Asian populations. To identify CNV regions associated with OF risk, we conducted a genome-wide CNV study in a Korean population. We performed logistic regression analyses in 1,537 Korean subjects (299 OF cases and 1,238 healthy controls) and identified a total of 8 CNV regions significantly associated with OF (p < 0.05). Then, one CNV region located on chromosome 20q13.12 was selected for experimental validation. The selected CNV region was experimentally validated by quantitative polymerase chain reaction. The CNV region of chromosome 20q13.12 is positioned upstream of a family of long non-coding RNAs, LINC01260. Our findings could provide new information on the genetic factors associated with the risk of OF.
Acute Pain ; Asian Continental Ancestry Group ; Bone and Bones ; Bone Density ; DNA Copy Number Variations ; Genome-Wide Association Study ; Hospitalization ; Humans ; Immobilization ; Logistic Models ; Mortality ; Osteoporosis ; Osteoporotic Fractures* ; Polymerase Chain Reaction ; Real-Time Polymerase Chain Reaction ; RNA, Long Noncoding

BACKGROUND/AIMS: Transient elastography is a new noninvasive tool for measuring liver stiffness that accurately predicts significant fibrosis and cirrhosis. However, several studies have indicated that liver stiffness can be significantly influenced by major changes in aminotransferase in patients with chronic viral hepatitis. The aim of this study was to determine the factors influencing liver stiffness in patients with chronic liver disease. METHODS: We studied 158 patients with chronic liver disease who underwent transient elastography and liver biopsy sampling. Histologic findings on fibrosis and necroinflammatory activity in the biopsy specimens were evaluated according to the Korean Society of Pathologists Scoring System. Routine biochemical tests were performed according to standard methods. RESULTS: Liver stiffness was strongly correlated with liver fibrosis stage (Spearman coefficient=0.636, P<0.001), lobular activity (Spearman coefficient=0.359, P<0.001), and portoperiportal activity grade (Spearman coefficient=0.448, P<0.001). Liver stiffness was significantly associated with serum levels of total bilirubin (P=0.025), direct bilirubin (P=0.049), gamma-glutamyl transpeptidase (P=0.014), platelet count (P=0.004), albumin (P<0.001), and international normalized ratio (P<0.001). Multivariate analysis showed that fibrosis stage (B 3.50, P=0.009) and lobular activity grade (B 3.25, P=0.047) were independently associated with liver stiffness. CONCLUSIONS: Liver stiffness as measured by transient elastography is associated with the grade of necroinflammatory activity and the stage of fibrosis, irrespective of serum ALT levels.
Adult ; Aged ; Bilirubin/blood ; Biopsy ; Chronic Disease ; Elasticity ; *Elasticity Imaging Techniques ; Female ; Hepatitis B, Chronic/*complications ; Hepatitis C, Chronic/*complications ; Humans ; International Normalized Ratio ; Liver Cirrhosis/etiology/pathology/*ultrasonography ; Male ; Middle Aged ; Platelet Count ; Risk Factors ; Severity of Illness Index ; gamma-Glutamyltransferase/blood

PURPOSE: Although there has been recent progress in surgical techniques, such as perioperative management, immunosuppresive regimen and intervention radiology, a liver retransplantation remains as the only therapeutic option for patients with a failing liver allograft. The purpose of this study was to review our clinical experiences of liver retransplantation, performed at the Asan Medical Center. METHODS: Between August 1992 and March 2001, 400 cases of liver transplantations, including 331 in adults and 69 in pediatrics, were performed. Of the 331 adult cases, 10 cases of liver retransplantation, during the same period, were retrospectively analyzed. RESULTS: In the 331 cases of adult liver transplantation, 232 cases of living donor and 99 of cadaveric liver transplantations were carried out. The 331 adult cases also included 10 liver retransplantations. Therefore, the overall liver retransplantation rate was 3%. Primary non-function (PNF) was the leading cause of retransplantation. The conversion of living donor liver transplantation to a cadaveric liver retransplantation was the most common type of retransplantaion, with a cadaveric to cadaveric type the second most common. The in-hospital mortality was 40%. The causes of in-hospital mortality were hepatic artery pseudoaneurysm rupture, Aspergillus pneumonia, and multiple organ failure, initiated by jejuno-jejunostomy site bleeding and massive hepatic necrosis. CONCLUSION: In the current era of extreme organ shortage, retransplantation is the only therapeutic alternative for irreVersible graft failure, especially if the patient has no multiple organ failure (MOF) prior to the operation. Therefore, the careful selection of patients for a retransplantation is required. They should be given superurgent priority if the circumstances permit, and living donor liver transplantation (LDLT) offer a promising alternative.
Adult ; Allografts ; Aneurysm, False ; Aspergillus ; Cadaver ; Chungcheongnam-do ; Hemorrhage ; Hepatic Artery ; Hospital Mortality ; Humans ; Liver Transplantation ; Liver* ; Living Donors ; Massive Hepatic Necrosis ; Multiple Organ Failure ; Pediatrics ; Pneumonia ; Retrospective Studies ; Rupture ; Transplants

PURPOSE: Surgery remains the treatment of choice for a hepatocellular carcinoma (HCC) confined within the liver. When there is no underlying liver disease, resection is the preferred option. In cases of HCC with cirrhosis, impaired hepatic reserve often precludes safe resection. Recently, acceptable transplantation outcomes have been shown in selected HCC patients. The aim of this study was to review the results of liver transplantation for HCC at the Asan Medical Center. METHODS: 73 HCC patients were treated by liver transplantation between August 1992 and April 2001. There were 7 in-hospital mortalities. The mean age of the patients was 51 years. The period of the median follow-up was 22 months. By reviewing the patients' medical records, we investigated tumor size, and number, TNM stage, survival rates, and recurrences. Statistical analysis was performed using Statistica 5.1 and SPSS 9.0. RESULTS: Among 67 patients, 8 (12%) developed a tumor recurrence or distant metastasis following the liver transplantation. The 3 year and 5 year survival rate were 88 and 57%, respectively. There were 12 incidentalomas. The 1 year and 3 year disease free survival rates of 54 cases, with the exception of the incidentalomas, were 80 and 50%, respectively. There were no statistically significant differences in the survival rates between the groups, with and without preoperative TACE (P=0.70). Also, there were no statistically significant differences in the survival rates between cadaveric donor liver transplantations (CDLT) and living donor liver transplantations (LDLT). CONCLUSION: We assume that transplantation for HCC, in carefully selected patients, may be the solution to HCC in cirrhotic livers. If the donor safety with a LDLT can be ensured, its application to patients with cirrhosis and early HCC may be a solution to the donor shortage, which could improve the survival of this group of patients.
Cadaver ; Carcinoma, Hepatocellular* ; Chungcheongnam-do ; Disease-Free Survival ; Fibrosis ; Follow-Up Studies ; Hospital Mortality ; Humans ; Liver Diseases ; Liver Transplantation* ; Liver* ; Living Donors ; Medical Records ; Neoplasm Metastasis ; Recurrence ; Survival Rate ; Tissue Donors

We have undertaken this study to identify the usefulness of two variable dinucleotide tandem repeats within the factor VIII gene for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. We have analyzed these polymorphisms in 50 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. The expected heterozygosity rates of the intron 13 and intron 22 dinucleotide repeats were 56% and 40%, respectively. Analysis of the intron 13 and intron 22 dinucleotide repeats revealed heterozygous patterns in 29(58%) and 17(34%) of 50 mothers studied, respectively. The combined overall informativity of the intron 13 and intron 22 dinucleotide repeats was 68%. Using linkage analysis with the intron 13 dinucleotide repeats, we have attempted three cases of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. Two pregnant women were diagnosed as carriers, and the other patients as non-carrier Prenatal diagnosis revealed an unaffected male in one fetus, and an unaffected female in another fetus. This data demonstrated that the analysis of the intron 13 and intron 22 dinucleotide repeats very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Dinucleotide Repeats ; Factor VIII* ; Female ; Fetus ; Hemophilia A* ; Humans ; Introns ; Male ; Microsatellite Repeats ; Mothers ; Polymerase Chain Reaction ; Pregnant Women ; Prenatal Diagnosis* ; Tandem Repeat Sequences*

At present, because of enormous variety of mutations in hemophilia A, carrier detection and prenatal diagnosis by DNA analysis has been relied almost always on indirect detection using linkage analysis of DNA polymorphisms withim or near to the factor VIII gene. However, there is marked ethnic variation in the incidence of heterozygosity for a given DNA polymorphism. So it is very important to find out which DNA polymorphism pattern is useful in Korean families with hemophilia A for carrier detection and prenatal diagnosis. To identify the usefulness of DNA polymorphism in St14 VNTR locus for carrier detection and prenatal diagnosis of hemophilia A in Korean populations, we have analysed the DNA polymorphism in St14 VNTR locus in 80 Korean families with hemophilia A using polymerase chain reaction. We could identify 14 alleles in subjects studied, which ranges from 620 bp to 2830 bp. Expected heterozygosity rate, calculated from the allele frequencies, was 78.7%, and observed heterozygosity rate was 71.3% (57/80). Carrier detection was performed in 43 women from families informative with St14 VNTR : Seventeen women were diagnosed as non-carriers, 11 women as carriers. And 15 women were suspected to be carriers since they were from families of sporadic cases of hemophilia A. And prenatal diagnosis was done in 4 pregnant carrier women : noe fetus proved to be normal males, two fetuses to be normal females, and one to be a carrier. And five pregnant women, suspected to be carrier since they were from families of sporadic cases of hemophilia A, underwent prenatal diagnosis : One fetus was diagnosed as a normal mali, one as a normal female, two as possible carriers, and one as a possible affeted mali, whom the analysis of factor VIII level in fetal blood by cordocentesis revealed to be affected by hemophilia A. These data indicate that PCR-based analysis of St14 VNTR is very useful for the carrier detection and prenatal diagnosis of hemophilia A in Korea.
Alleles ; Cordocentesis ; DNA* ; Factor VIII ; Female ; Fetal Blood ; Fetus ; Gene Frequency ; Hemophilia A* ; Humans ; Incidence ; Korea ; Male ; Mali ; Minisatellite Repeats* ; Polymerase Chain Reaction* ; Pregnant Women ; Prenatal Diagnosis*