We analysed the 49 probands of autosomal dominant polycystic kidney disease (ADPKD) in Korea to elucidate clinical and genetic characteristics. 1) Family history of renal disease or ADPKD was taken from 44% of probands; hypertension 88%, cerebrovascular attack 64%, end stage renal disease 16%. 2) From the family screening with renal ultrasonography, we have confirmed dominant trait in 24 families. We found 2 families which have suspicious new mutations. 3) We performed linkage analysis of 15 families. The PKD-1 to non PKD-1 ratio was 13 : 2. 4) The male to femal ratio was 17 : 32 and age at diagnosis was 41 (24-65)years (mean (range)) in male, 45 (26-68) years in female. 5) The factors leading to the diagnosis of ADPKD were flank pain (23%), incidental finding (17%), palpable abdominal mass (11%), headache (9%) and gross hematuria (9%) 3) Hypertension (80%), azotemia (43%), flank pain (42%), renal calcification (42%), gross hematuria (33%) and cyst hemorrhage (25%) were renal complications. There were 2 renal cell carcinoma cases. 4)Liver cyst (82%) was the most common extrarenal manifestations. There were colonic diverticulosis (13%), cerebral artery aneurysm (7%), adrenal cyst (4%) and pancreatic cyst (2%). Results of our study revealed the clinical and genetic characteristics of ADPKD in Korea. We found only 44% of family history of renal disease, variable initial manifestations, variable renal and extrarenal complications. And we also found the similar percentage of PKD-2 (13%) to that (5-15%) of western countries, but it is necessary to study with more patients and families.
Aneurysm ; Azotemia ; Carcinoma, Renal Cell ; Cerebral Arteries ; Diagnosis ; Diverticulosis, Colonic ; Female ; Flank Pain ; Headache ; Hematuria ; Hemorrhage ; Humans ; Hypertension ; Incidental Findings ; Kidney Failure, Chronic ; Korea* ; Male ; Mass Screening ; Pancreatic Cyst ; Polycystic Kidney, Autosomal Dominant* ; Ultrasonography

BACKGROUND: JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN. METHODS: We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively. We performed allele-specific PCR to detect V617F in all BCR/ABL1-negative patients, and performed direct sequencing to detect exon 12 variations in 47 V617F-negative MPN patients. JAK2 c.1641+179_183del5 variation was detected by restriction fragment length polymorphism assay in 176 healthy subjects. RESULTS: JAK2 V617F was detected in 91 patients (59.1%): PV (91.6%), PMF (46.2%), ET (52.8%), and MPNU (66.7%). In V617F-negative MPN patients, no mutations were found in exon 12. The c.1641+179_183del5 was detected in 68.1% of V617F-negative MPN patients and 45.4% of healthy subjects (P=0.008). JAK2 V617F was closely correlated with age and leukocytosis in BCR/ABL1-negative MPN patients (P<0.05). However, c.1641+179_183del5 was not related to age, sex, or complete blood cell count parameters in V617F-negative MPN patients and healthy subjects. The c.1641+179_183del5 was associated with an increased odds ratio for MPN (odds ratio, 2.6; 95% confidences interval, 1.3-5.1; P=0.007). CONCLUSIONS: Frequencies of V617F are similar to reported results. JAK2 exon 12 mutations may be rare and c.1641+179_183del5 may influence the occurrence of MPN in Korean patients with V6 17F-negative MPN.
Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Alleles ; Amino Acid Substitution ; Asian Continental Ancestry Group/*genetics ; Child ; Exons ; Female ; Fusion Proteins, bcr-abl/*metabolism ; *Genetic Variation ; Humans ; Janus Kinase 2/*genetics ; Male ; Middle Aged ; Myeloproliferative Disorders/diagnosis/*genetics ; Odds Ratio ; Polymorphism, Restriction Fragment Length ; Republic of Korea ; Sequence Analysis, DNA

Radiation-induced skin ulceration is a frequent complication of radiation therapy. This study investigated the effects of rat mesenchymal stem cells (rMSCs) and platelet-derived growth factor (PDGF) on the healing of radiation-induced soft tissue injury. Sprague-Dawley rats (n=17) were irradiated on the right and left buttocks with a single dose of 50 Gy. The right buttocks were administered with phosphate-buffered solution as a control. The left buttocks were administered with either rMSCs (2×10⁶ cells), PDGF (8 µg), or PDGF combined with rMSCs. Administration was done at three weeks after irradiation. Wound healing was analyzed by calculating the percentage of residual ulcerated skin area compared to the total irradiated area during the five week healing period after administration. Modified skin scores were also assessed. Finally, skin lesions were histologically evaluated. More than 40% of the irradiated skin area within the irradiated zone underwent ulceration within 16 days postirradiation, with peak ulceration exceeding 50% around three weeks post-irradiation. Administration of rMSCs or PDGF alone did not confer any significant healing effect. The combined rMSCs+PDGF treatment significantly reduced the wound size compared with the nontreated control up to two weeks postinjection. Regarding the histological examination, lesions administered with PDGF (either alone or mixed with rMSCs) resulted in a greater deposition of highly organized collagen fibers throughout the dermis layer, compared with the control. In conclusion, the combined administration of rMSCs and PDGF efficiently enhanced the healing of radiation-induced skin ulceration.
Animals ; Buttocks ; Collagen ; Dermis ; Mesenchymal Stromal Cells* ; Platelet-Derived Growth Factor* ; Rats* ; Rats, Sprague-Dawley ; Skin ; Skin Ulcer ; Soft Tissue Injuries ; Ulcer* ; Wound Healing ; Wounds and Injuries

To evaluate the effect and working mechanism of a newly developed anti-cancer drug, AG60 (acriflavine-guanosine compound, Taerim Pharm. Co. Seoul, Korea), histotologic, autoradiographic and electron microscopic studies were carried out. For the histologic study, each Ehrlich carcinoma cells (10(7) cells)-inoculated mouse was subcutaneously injected with saline (0.2 ml), 10 mg/kg of AG60, or 30 mg/kg of AG60, every other day, respectively. Animals were sacrified on the 14th day from the first injection, and tumor masses were fixed in 10% formalin solution. Tissue sections of the tumor were stained with hematoxylin and eosin. For the electron microscopic study, Ehrlich carcinoma (10(7) cells)-inoculated mice were subcutaneously injected every other day with saline (0.2 ml) or 30 mg/kg of AG60, respectively. The day after 7th injection (14th day), animals were sacrified, small piece of tumor masses were fixed in 2.5% glutaraldehyde-1.5% paraformaldehyde solution followed by fixation in 2% osmium tetroxide solution. Ultrathin sections were counter stained with uranyl acetate-lead citrate solutions, and observed with JEM 100CX electron microscope. For the autoradiographic study, each Ehrlich carcinoma (10(7) cells)-inoculated mouse was injected every day with 0.2 ml of saline, 5 mg/kg of AG60, or 30 mg/kg of AG60, respectively. The day following the last injection, each animal was given a single dose of 0.7 micricurie/g of methyl-3H-thymidine (Amersham Lab., England) through the tail vein. Seventy minutes after the thymidine injection, animals were sacrified, tumor masses were collected and fixed in 10% neutral formalin. Tissue blocks were washed, dehydrated, embedded and cut in 6 micrometer-thick sections. Deparaffinzied sections were dipped in the autradiographic emulsion E1 (Amersham Lab., England) and dried and stocked in the dark room. Filmed sections were exposured five weeks in the dark room, and were developed in the developer. Labeled indices (mean number of labeled cells per 100 cancer cells) and labeled grain indices (mean number of labeled silver grains per one cancer cell, and total granule numbers per every 100 cancer cell) were observed and calculated. The results were as follows : 1. On histological study, massive apoptosis were occured following the injection of AG60. Only small number of live cancer cells were observed. 2. On electron microscopic study, massive apoptotic figures including fragmentation of nuclei and cytoplasms, multiple nucleoli, condensation of nucleus and cytoplasm, deep invaginations and microcleft formations of nuclei, margination of heterochromatin along the inner nuclear membrane and microcleft , etc. were noticed. Giant cells represent the "tumor cell-tumor cell emperipolesis", and many of them seem to be in process of "cytolytic emperipolesis". 3. On autoradiographic study, labeled grains of 3H-thymidine were suppressed to only 11%~5% of control cancer cells following AG60 administrations. Discussed on the above experiments, it is suggested that severe suppression of DNA, RNA and protein syntheses by AG60 induce massive apoptosis of cancer cells. AG60 is expected as one of most effective anticancer drugs for the cytostatic therapy, the disease stabilization, the improved quality of life, the prolongation of life, and possibly the chemoprevention.
Acriflavine ; Animals ; Apoptosis ; Autoradiography ; Edible Grain ; Chemoprevention ; Citric Acid ; Cytoplasm ; DNA ; Eosine Yellowish-(YS) ; Formaldehyde ; Giant Cells ; Guanosine ; Hematoxylin ; Heterochromatin ; Life Support Care ; Mice ; Microscopy, Electron ; Nuclear Envelope ; Osmium Tetroxide ; Quality of Life ; RNA ; Robenidine ; Seoul ; Silver ; Thymidine ; Veins

Animals ; Bone Regeneration ; Bone Substitutes ; Carbon ; Dogs ; Durapatite ; Heterografts ; Mouth ; Osteogenesis ; Transplants

Abscesses are common in the oral and maxillofacial area. However, secondary thrombosis of the internal jugular vein accompanying the primary abscess is rare. In 1936, Andre Lemeierre studied 20 patients who showed an initial oropharyngeal infection, septicemia, internal jugular vein thrombosis, and secondary spread of the infection, and after then this condition Lemierre syndrome. Clinically, these patients present with tonsilitis lasting several days, continuous fever, and cervical pain. In the past, ligation and excision of the internal jugular vein was often performed. Current therapeutic modality for this condition is appropriate antibiotic prescription and surgical drainage of abscess. This case report presents a patient who showed symptoms of Lemierre syndrome, initiated as an oropharyngeal infection then developed thrombosis of the internal jugular vein. This patient was admitted into Seoul National University Dental Hospital. In addition to routine antibiotic therapy, surgical incision and drainage of the infection site was performed. Without ligation or excision, the thrombosed IJV disappeared eventually. As the Lemierre syndrome is not a common disease, this case report and review of the literature would be useful regarding a treatment of patients with Lemierre syndrome.
Abscess ; Drainage ; Fever ; Humans ; Jugular Veins ; Lemierre Syndrome* ; Ligation ; Neck Pain ; Palatine Tonsil ; Prescriptions ; Seoul ; Sepsis ; Thrombosis

BACKGROUND: GenediaTM H. pylori ELISA is a newly developed diagnostic method which detects serum anti-H. pylori IgG antibody. The aim of this study was to assess the accuracy of GenediaTM H. pylori ELISA for the diagnosis of H. pylori infection in Korean population. METHODS: GenediaTM H. pylori ELISA and GAP-IgG were performed in 353 adult sera and Pyloriset-IgG EIA in 184 subjects. In children, 43 serum samples were tested with GenediaTM H. pylori ELISA. H. pylori infection was determined by rapid urease test, histology, culture or 13C-urea breath test in adults. In children, the subject was considered to be H. pylori positive if 13C-urea breath test was positive. RESULTS: In adults, the sensitivity and specificity of GenediaTM H. pylori ELISA were 93.2% and 83.5% with positive and negative predictive values of 85.1% and 92.5%. Those for GAP-IgG and Pyloriset-IgG EIA were 67.2%, 82.4%, 79.3%, 71.4% and 89.1%, 88.4%, 71.9%, 96.1%, respectively. In children, sensitivity, specificity, positive and negative predictive values of GenediaTM H. pylori ELISA were 80%, 84.8%, 61.5%, and 93.3%. Sensitivity and negative predictive value of GenediaTM H. pylori ELISA were significantly higher than those of GAP-IgG (93.2% vs. 67.2%; plt;0.005 and 92.5% vs 71.4%; p<0.005, respectively). CONCLUSION: GenediaTM H. pylori ELISA is a relatively accurate method for the serodiagnosis of H. pylori infection in Korean subjects compared to GAP-IgG. These results may suggest the clinical use of GenediaTM H. pylori ELISA for epidemiological studies of H. pylori infection in Korea.
Adult ; Breath Tests ; Child ; Diagnosis* ; Enzyme-Linked Immunosorbent Assay* ; Helicobacter pylori* ; Helicobacter* ; Humans ; Immunoglobulin G ; Korea ; Sensitivity and Specificity ; Serologic Tests ; Urease

BACKGROUND: Helicobacter pylori infection occurs throughout the world and causes various gastroduodenal diseases in all age groups. The prevalence of H. pylori infection varies among countries and races. The aim of this study was to evaluate the seroprevalence of H. pylori infection in healthy people in Korea. METHODS: From March 1998 to October 1998, 5,732 asymptomatic subjects responded to the self-assessment questionnaires from 54 hospitals were enrolled. Serum level of anti-H. pylori IgG was measured by ELISA test. RESULTS: The overall prevalence of H. pylori infection was 46.6% and showed no significant difference between male (47.2%) and female (45.9%). According to the geographic areas, the highly prevalent provinces were Kangwon (53.4%), Cheju (52.9%) and Jeonra provinces (50.6%), while Seoul (41.9%) was the lowest prevalent area. The seroprevalence increased with age and was the highest at 40's (78.5%). The characteristic feature of this study was that the infection rate increased steeply in three age groups (10-12, 16-19 years old and 30's). In Seoul, there was no different prevalence rate among the districts studied. CONCLUSION: The nation-wide seroprevalence of H. pylori infection in Korea is higher than that of the developed countries. We hope that this study provides the landmark for the study of H. pylori infection in Korea.
Continental Population Groups ; Developed Countries ; Enzyme-Linked Immunosorbent Assay ; Female ; Gangwon-do ; Helicobacter pylori* ; Helicobacter* ; Hope ; Humans ; Immunoglobulin G ; Jeju-do ; Korea* ; Male ; Prevalence ; Self-Assessment ; Seoul ; Seroepidemiologic Studies* ; Surveys and Questionnaires

BACKGROUND: The prevalence of Helicobacter pylori (H. pylori) infection varies between countries and between social classes. The aim of this study was to identify risk factors for with Helicobacter pylori infection in asymptomatic Korean population. METHODS: Sera were collected from 2,687 females and 3,049 males (mean age, 29.1 y; range, 1 m-79 y) in Korea from Mar 1998 through Oct 1998. All asymptomatic subjects completed assessment questionnaires. An enzyme-linked immunosorbent assay was performed to detect IgG antibody to H. pylori. RESULTS: The overall seroprevalence observed was 46.6% and showed nostatistical diffrerence between female (45.9%) and male (47.2%). The seroprevalences in children (neonate-15 y) and adult (16-79 y) were 17.2% and 66.9%, respectively. According to multivariate analysis, variables such as sex, age, geographic area, crowding (number of person per room) in childhood, economic status in childhood, and types of housing in childhood were significantly and independently associated with H. pylori seroprevalence of adults. In children, age, geographic area, income, mother's education, and drinking water source were significant risk factors of H. pylori infection. CONCLUSION: Socioeconomic condition and close person to person contact in childhood are the significant determinants for H. pylori infection in adult. Drinking water source is an another important risk factor for H. pylori infection in children, suggesting the fecal to oral transmission in Korea.
Adult ; Child ; Crowding ; Drinking Water ; Education ; Enzyme-Linked Immunosorbent Assay ; Epidemiology ; Female ; Helicobacter pylori* ; Helicobacter* ; Housing ; Humans ; Immunoglobulin G ; Korea ; Male ; Multivariate Analysis ; Prevalence ; Risk Factors* ; Seroepidemiologic Studies ; Social Class ; Surveys and Questionnaires

The study was carried out to evaluate the tissue-distribution of acriflavine or AG60 (acriflavine-guanosine compound, 1 : 1), the newly developed anticancer remedy. Successful access or distribution of a drug to specific tissue is important to attack the cancer cells in the same area. But it also means that the drug may disturb the activities of labelled tissues or cells. On the other hand, unlabelled elements may survive from massive treatment with the drug. In this study, distribution of acriflavine or AG60 in Yac-1 leukemic cells (0.25~25 microgram/ml) and in the tissues of rats or mice (5~50 mg/kg) were evaluated. Yac-1 cells showed prominent fluorescence on the heterochromatin and more or less prominent fluorescence on the nucleoplasm, cytoplasm and plasma membrane. Cytotoxicity of AG60 led to morphologic changes such as bleb- or baloon-formation on the surface, general swelling of the cell, and lysis of the cell. Following the subcutaneous administration of acriflavine or AG60 (5~50 mg/kg) to the Ehrlich carcinoma-inoculat-ed rats or mice, most tissues including cancer cells showed acriflavine-fluorescence with some exception. The nuclei of cells of tissues were labelled more strongly than those of cytoplasm. Fluorescence was especially strong over biliary tree, renal corpuscle, gastrointestinal mucous coat, and bronchial mucous coat. But parenchymal components of central nervous system did not show any fluorescence. As shown in Yac-1 cells treated with AG60, the drug strongly attached to nucleic acids, and it induced swelling and disintegration of cancer cells. Fast turn-over of AG60 was seen in the secretory passages of bile juice, urine, gastrointestinal mucin, and bronchial mucin. The results show that AG60 could reach most tissues except parenchymes of central nervous system.
Acriflavine ; Animals ; Bile ; Biliary Tract ; Cell Membrane ; Central Nervous System ; Cytoplasm ; Fluorescence ; Guanosine ; Hand ; Heterochromatin ; Mice ; Mucins ; Nucleic Acids ; Rats