Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius: the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.
Autopsy ; Extremities ; Female ; Fetus ; Heart Defects, Congenital ; Humans ; Karyotype ; Parents* ; Pregnancy ; Radius ; Soil ; Thumb ; Ultrasonography* ; Upper Extremity

We studied 73 patients with ischemic stroke (56 patients) and transient ischemic attacks (17 patients) to evaluate the clinical efficacy of the two techniques, tansthoracic echocardiography (TTE) and transesophageal echocardiography (TEE). For detecting potential intracardiac sources of cerebral emboli. Group I (40 cases) patients had no clinical cardiac abnorrnality. And group II (33 cases) patients had cardiac abnormality upon clinical examination. In group I. Intracardiac abnormalities were detected in 5%(2 to 40) with TTE and 37.5%(15 to 40) with TEE, and 34.2%(13 to 38) with TEE among the patients with normal finding with TTE which was statistically significant difference. In group II. Intracardiac abnormalities were detected in 21.1%(7 to 33) with TTE and 75.8%(25 to 33) with TEE, and 69.2% (18 to 26) with TEE arnong the patients with normal finding with TTE In comparison of 40 patients uith intracardiac source of embolism by echocardiogram (group A) and 33 patients without cardiac source of embolism(group B), atrial fibrillation was observed in 12 patients in group A versus 2 in group B (p<0.01), mean atrial size was 41.5mm in group A versus 35.3mm in group B. and left ventricular hypertrophy was in lQ in group A versus 6 in group B. Territories of cerebral arteries in cerebral infarction or TlAs of 40 patients with intracardiac source of embolism showed middle cerebral artery in 32.5%, posterior cerebral artery in 25% and bilateral or multiple in l2.5%. We concluded that TEE is superior to TTE for detecting potential cardiac sources of embolism.
Atrial Fibrillation ; Cerebral Arteries ; Cerebral Infarction ; Echocardiography ; Echocardiography, Transesophageal* ; Embolism ; Humans ; Hypertrophy, Left Ventricular ; Intracranial Embolism* ; Ischemic Attack, Transient ; Middle Cerebral Artery ; Posterior Cerebral Artery ; Stroke

No abstract available.
Liver Cirrhosis* ; Liver* ; Polycythemia Vera* ; Polycythemia*

BACKGROUND: We assessed the efficacy of serial interferon-gamma release assays (IGRAs) for the diagnosis of latent tuberculosis infection (LTBI) in patients receiving immunosuppressive agents for treatment of rheumatic diseases in Korea. METHODS: Of 276 patients who underwent consecutive screening with one of two IGRAs [QuantiFERON-TB Gold or QuantiFERON-TB Gold In-Tube], 66 patients were evaluated by the serial IGRA for detection of LTBI during therapy with immunosuppressive agents. Information on clinical diagnosis, medication, previous TB, blood cell count, tuberculin skin test, and interferon-gamma (IFN-gamma) level measured by IGRA was collected. RESULTS: Of the 66 patients, the initial IGRA was positive in 24.2%, negative in 65.2%, and indeterminate in 10.6%. Forty-six patients (69.7%) showed consistent IGRA results during follow-up, and 13 patients (19.7%) had consistently positive results. IGRA conversion rate was 12.1% (8/66) and reversion rate was 4.5% (3/66). Conversion of IGRA results was only observed in ankylosing spondylitis patients, and the median interval between the two tests in patients with conversion was 8.5 months. The mean IFN-gamma level in the group of patients with consistently positive IGRA results was higher than that in the group with inconsistently positive results, although this trend was not statistically significant (P=0.293). Indeterminate results were observed most frequently in patients with systemic lupus erythematosus. CONCLUSIONS: In patients receiving immunosuppressive agents, both IGRA conversions and reversions were observed. Serial IGRA testing may not be needed in patients with a positive initial IGRA result showing high IFN-gamma levels, because of high consistency in the test results.
Adult ; Blood Cell Count ; Female ; Follow-Up Studies ; Humans ; Immunosuppressive Agents/*therapeutic use ; Interferon-gamma/*analysis ; *Interferon-gamma Release Tests ; Latent Tuberculosis/complications/*diagnosis/metabolism ; Lupus Erythematosus, Systemic/complications/diagnosis/metabolism ; Male ; Middle Aged ; Rheumatic Diseases/complications/diagnosis/drug therapy ; Spondylitis, Ankylosing/complications/diagnosis/metabolism ; Tuberculin Test

OBJECTIVE: We analyzed our experience with total laparoscopic hysterectomy to evaluate the clinical data such as operation time, blood loss, hospital stay, and complications. METHODS: A retrospective study was carried out in 300 women who underwent total laparoscopic hysterectomy (TLH). RESULTS: The most common indications for TLH were uterine myomas, chronic pelvic pain (severe endometriosis), cervical intraepithelial neoplasia. Mean operating time was 90 minutes (range 50-200 min) and hospital stay was 3 days (range 2 days-7 days). The most important factors for the surgery time were uterine size, assistant's skill, presence of adhesions (obliteration of the cul-de-sac due to severe endometriosis). Several techniques were used, including bipolar coagulation of the uterine vessels, and suture of the stump. A special uterine manipulator (RUMITM uterine manipulator with colpotomizer and pneumooccluder balloon) used in all procedures aided in anatomic definition and performing the circumferential colpotomy. We had three bladder injuries during operation which was diagnosed and immediately repaired laparoscopically. We had two cases of ureterovaginal fistula and one case of postoperative ileus. But there were no cases of death, thrombophlebitis neither other pulmonary complications. CONCLUSIONS:Total laparoscopic hysterectomy can be performed safely and effectively when the surgical team is sufficiently trained. And we believe that total laparoscopic hysterectomy offers benefits to the patients in the form of less post-operative pain, shorter time in hospital.
Cervical Intraepithelial Neoplasia ; Colpotomy ; Female ; Fistula ; Humans ; Hysterectomy* ; Ileus ; Leiomyoma ; Length of Stay ; Pelvic Pain ; Retrospective Studies ; Sutures ; Thrombophlebitis ; Urinary Bladder

PURPOSE: The aim of this study was to investigate clinicopathologic differences between prostate cancer (PCa) detected at initial and repeat transrectal ultrasound-guided prostate biopsy in a large Korean cohort. MATERIALS AND METHODS: From 2000 through 2012, a total of 7,001 patients underwent transrectal ultrasound-guided prostate biopsy at 6 centers in Daegu and Gyeongbuk provinces. Of these 7,001 patients, the initial biopsy was positive for PCa in 2,118 patients. Repeat biopsy was performed in 374 of the 4,883 patients with an initial negative finding and a persistently elevated prostate-specific antigen (PSA) level, nodules or asymmetry by digital rectal examination (DRE), high-grade prostatic intraepithelial neoplasia, or atypical small acinar proliferation. Numbers of biopsy cores varied from 6 to 12 according to center and biopsy date. RESULTS: Cancer was diagnosed in 2,118 of the 7,001 patients (30.3%) at initial biopsy and in 86 of the 374 patients (23.0%) at repeat biopsy. The repeat biopsy rate was 5.3%. Mean PSA values were 68.7+/-289.5 ng/mL at initial biopsy and 18.0+/-55.4 ng/mL at repeat biopsy (p<0.001). The mean number of cancer-positive cores per biopsy was 5.5+/-3.5 for initial biopsy and 3.0+/-2.9 for repeat biopsy (p<0.001). Mean Gleason score was 7.5+/-1.4 at initial biopsy and 6.6+/-1.3 at repeat biopsy (p<0.001). For detected cancers, the low-stage rate was higher for repeat biopsy than for initial biopsy (p=0.001). CONCLUSIONS: Cancers detected at repeat biopsy tend to have lower Gleason scores and stages than cancers detected at initial biopsy. The present study shows that repeat biopsy is needed in patients with a persistently high PSA or abnormal DRE findings.
Adult ; Aged ; Aged, 80 and over ; Endosonography/*methods ; Follow-Up Studies ; Humans ; Image-Guided Biopsy/*methods ; Incidence ; Male ; Middle Aged ; Neoplasm Grading ; Neoplasm Staging ; Prostatic Neoplasms/epidemiology/*pathology ; Rectum ; Reproducibility of Results ; Republic of Korea/epidemiology ; Retrospective Studies

OBJECTIVE: The prevalence of Parvovirus B19 antibody in Korea has not been known. The aim of this study is to analyze variation of prevalence according to area, job and maternal age. METHODS: A prospective study of the pregnant women was performed at first & second trimester. This study was an analysis of 221 pregnant women who lived in Seoul, Bucheon, Cheonan, and Gumi in South Korea. All serum samples were drawn during first and second trimester. Presence of parvovirus B19 IgG antibodies and IgM antibodies was determined by ELISA using Parvovirus B19 IgM-3rd Generation EIA, Parvovirus B19 IgG-3rd Generation EIA, Parvovirus B19 Quantitative IgG Calibrators Kit (Biotrin International, Ireland). Data and level of significance were analysed by chi-square test using the SPSS program. RESULTS: In total, 118 (53.3%) of the 221 pregnant women were IgG antibody positive for parvovirus B19 during first and second trimester. Only 1 (0.5%) of 221 pregnant women was IgM antibody positive. There were no nonimmune fetal hydrops, spontaneous abortion and stillbirth in acutely infected woman. There were no statistically significant differences in Parvovirus IgG positive rate according to maternal age, area, parity and gestational age. CONCLUSION: This study has confirmed seroprevalence rate of human parvovirus B19 in South Korea comparable to the rate found in Asian countries. But positive rate of Parvovirus IgG was higher than other Asian countries. This study also showed that a proportion of adults of childbearing age was still susceptible to the virus and serological data also showed evidence of infection occurring in this age group. It will be of interest for the obstetricians in this country to note the role of Parvovirus B19 in relation to the extent of stillbirths and hydrops fetalis and to if there is any need for a vaccine to reduce fetal wastage.
Abortion, Spontaneous ; Adult ; Antibodies ; Asian Continental Ancestry Group ; Chungcheongnam-do ; Enzyme-Linked Immunosorbent Assay ; Female ; Gestational Age ; Gyeonggi-do ; Gyeongsangbuk-do ; Humans ; Hydrops Fetalis ; Immunoglobulin G ; Immunoglobulin M ; Korea* ; Maternal Age ; Parity ; Parvovirus B19, Human ; Parvovirus* ; Pregnancy ; Pregnancy Trimester, Second ; Pregnant Women* ; Prevalence ; Prospective Studies ; Risk Factors* ; Seoul ; Seroepidemiologic Studies* ; Stillbirth

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in adults, and its major morbidities are renal failure and cerebrovascular accident. The prevalence of this disease in the chronic haemodialysis patient population is known to be approximately 2% in Korea. So far, three genetic loci have been identified as being responsible for ADPKD, and approximately 85% of the cases in Western countries are related to the PKD1 gene. However, little information is available concerning the pattern of linkage analysis or the mutations present in Asian populations. For this study, 35 families with hereditary renal cysts were recruited from our ADPKD clinic from 1993 to the present, and their molecular genetic characteristics were studied. Subjects were chosen according to the criteria of Ravine et al. Linkage analysis was done with microsatellite markers(PKD1:SM7, UT581, AC2.5, KG8, D16S418, PKD2 : D4S423, D4S1534, D4S1542, D4S1544, D4S2460). Genomic DNA PCR and PAGE gel run were done, and the allele patterns were compared with sonographic findings. The results of this study showed that the ratio of PKD1 to PKD2 was 23 : 3, and PKD2 families showed the tendency of milder renal prognosis than PKD1 families. In conclusion, we confirmed the usefulness of linkage analysis for ADPKD in Korean population, and our data shows a similar percentage of PKD1(88%) and PKD2(12%) in Korean patients as in the Western population.
Adult ; Alleles ; Asian Continental Ancestry Group ; DNA ; Genetic Loci ; Genotype* ; Humans ; Korea ; Microsatellite Repeats ; Molecular Biology ; Polycystic Kidney, Autosomal Dominant* ; Polymerase Chain Reaction ; Prevalence ; Prognosis ; Renal Insufficiency ; Stroke ; Ultrasonography

Multiple myeloma is characterized by long clinical course and drug resistance. Conventional chemotherapy results in modest survival benefit. High dose therapy with autologous stem cell transplantation results in markedly increased response rate and survival, confirmed by a randomized study. But there are any evidences yet this approach confers cure. To decrease relapse rate, several approaches are ongoing. Among them, purified CD34+ selected transplantation is an attractive approach because of reduced contamination of myeloma cells. Recently we have experienced CD34+ selected autologous transplantation in a multiple myeloma patient. After VAD induction chemotherapy, high dose melphalan (200mg/m2) with CD34+ selected autotransplantation was followed. Immunoadsorption using CeprateSC resulted in 81% purity and 42% yield. Infused CD34+ cell number was 3.1x106/kg. Absolute granulocytopenic and thrombocytopenic period was less than a week. Grade lll or more extramedullary toxicities were not observed. After high dose therapy, complete remission by immunofixation was achieved. We have experienced a case of CD34+ selected transplantation in multiple myeloma and found that it was safe in terms of short term engraftment.
Autografts* ; Cell Count ; Drug Resistance ; Drug Therapy ; Humans ; Induction Chemotherapy ; Melphalan* ; Multiple Myeloma* ; Recurrence ; Stem Cell Transplantation ; Transplantation, Autologous*

PURPOSE: To report an epidemiologic study of keratoplasty in which we analyze basic data of corneal transplants and corneal donations in Korea. METHODS: From June 2004 through October 2004, questionnaires were distributed to 25 hospitals. The questionnaires were about the characteristics of patients registered in eye banks for keratoplasty from May 2001 to April 2003, and about the results of keratoplasties performed from May 2002 to April 2003. RESULTS: The leading corneal diseases in patients registered for keratoplasty were infectious keratitis (22.0%), trauma (21.0%), and pseudophakic and aphakic bullous keratopathy (13.8%), in that order. The leading indications in corneal recipients were: trauma (15.5%), pseudophakic and aphakic bullous keratopathy (13.7%), and infectious keratitis (10.7%), in that order. In 233 cases of keratoplasties, penetrating keratoplasty was performed in 229 cases (98.3%) and lamellar keratoplasty was performed in 4 cases (1.7%). The most common combined surgery was cataract extraction. Common causes of graft failure were rejection of donor cornea and infection. Imported donor corneas were used in sixty-one cases (26.2%) among the 233 total keratoplasties. CONCLUSIONS: We constructed an epidemiologic data base of patients registered for keratoplasty, corneal donation, and the results of keratoplasties throughout Korea.
Cataract Extraction ; Cornea ; Corneal Diseases ; Corneal Transplantation* ; Epidemiologic Studies* ; Eye Banks ; Humans ; Keratitis ; Keratoplasty, Penetrating ; Korea* ; Surveys and Questionnaires ; Tissue Donors ; Transplants