Primary sarcoma of the cervix: an analysis of patient and tumor characteristics, treatment patterns, and outcomes / 부인종양

Objective@#Primary sarcoma of the cervix is rare and is associated with worse outcomes as compared to other histologies. The purpose of this study was to identify national treatment patterns and outcomes based on histological subtype using the National Cancer Database (NCDB). @*Methods@#The NCDB was queried for patients with cervical cancer from 2004–2015. Clinico-demographic treatment details were obtained and compared between patients with squamous cell carcinoma (SCC), adenocarcinoma, and sarcoma of the cervix. Multivariable Cox regression and the Kaplan-Meier method was used to examine survival. @*Results@#107,177 patients met inclusion criteria including 81,245 (75.8%) women with SCC, 24,562 (22.9%) women with adenocarcinoma, and 1,370 (1.3%) women with sarcoma. Of the patients with cervical sarcoma, 680 (49.6%) patients had carcinosarcoma or malignant mixed Müllerian tumor, 255 (18.6%) patients had leiomyosarcoma, 197 (14.4%) patients had adenosarcoma, 28 (2.0%) patients had endometrial stromal sarcoma (ESS), 85 (6.2%) patients had rhabdomyosarcoma, and 125 (9.1%) patients had sarcoma not otherwise specified (NOS). Patients with sarcoma were older and more likely to be treated primarily with surgery. On multivariable Cox regression, sarcoma had decreased overall survival (OS) as compared to patients with SCC (hazard ratio=2.17; 95% CI=1.99–2.37; p<0.001). Among patients with sarcoma, 5-year OS was 89.2% for adenosarcoma, 66.2% for rhabdomyosarcoma, 55.6% for leiomyosarcoma, 45.8% for ESS, 31.6% for carcinosarcoma, and 29.2% for sarcoma NOS. @*Conclusions@#Primary cervical sarcomas have inferior outcomes compared to SCC and adenocarcinoma. Sarcoma NOS and carcinosarcoma have the worst prognosis among sarcoma subtypes.

Serial Follow-up of Commotio Retinae Using Ultra-wide Field Imaging

PURPOSE: To quantify the size of commotio retinae and investigate its spontaneous resolution over time using ultra-wide field (UWF) color fundus photography.METHODS: We analyzed serial UWF color fundus photographs of 33 eyes of 33 ocular trauma patients with commotio retinae. Total visible retinal areas and the areas of commotio retinae were measured at baseline, 3 days, 1 week, and 4 weeks from the initial traumatic event.RESULTS: The median time of observation was 10.8 ± 12.1 (4-44) weeks. Spontaneous resolution of commotio retinae was observed in all patients, and no patients experienced any complications during the follow-up period. The mean percentage of commotio retinae at 3 days significantly decreased compared to the baseline (8.51 ± 9.66% versus 12.23 ± 10.39%; p < 0.001), and more decreased at 1 week (1.04 ± 2.75%; p < 0.001), but no significant differences were observed between 1 week and 4 weeks (0.00 ± 0.00%; p = 0.219). The spontaneous resolution percentages during the first 3 days, between 3 days and 1 week, and during the next 4 weeks were 12.97 ± 13.44%/day, 19.62 ± 9.22%/day, and 0.87 ± 1.87%/day, respectively (p = 0.192 and p < 0.001, respectively). The resolution rate was higher during the first 1 week.CONCLUSIONS: We quantified the size of commotio retinae using UWF color fundus photography. Most patients with commotio retinae resolved spontaneously during the first 1 week following trauma, and all cases completely resolved at 1 month without any complications.

Vulvar melanoma: an analysis of prognostic factors and treatment patterns / 부인종양

Objective@#Melanoma comprises 5% to 10% of vulvar cancers and prognosis is poor. The purpose of this study was to identify prognostic factors and treatment patterns for vulvar melanoma using the National Cancer Database (NCDB). @*Methods@#The NCDB was queried for patients with invasive vulvar melanoma from 2004–2015. Descriptive statistics were generated to describe clinical and treatment details.Multivariable Cox regression and the Kaplan-Meier method were used to examine overall survival (OS). @*Results@#1,917 patients with vulvar melanoma met inclusion criteria. Median follow-up time was 32 months (range, 0–151 months). Older age, larger tumor size, advanced disease stage, increased Charlson-Deyo comorbidity score, and care at a non-academic center were independent predictors for decreased OS. Surgical management of the primary site, lymph node surgery, and insurance provided a significant survival benefit. Use of immunotherapy for vulvar melanoma has increased over time. Two-year OS with immunotherapy in patients with distant metastatic disease was higher, although this did not reach statistical significance (33% vs. 12%, p=0.054). @*Conclusions@#Vulvar melanoma has a poor prognosis for those with regional and distant metastatic disease. Extent of disease, tumor size, and patient age are important prognostic factors. Other favorable factors included insurance and surgical management. The use of immunotherapy has increased over time and may improve survival in those with distant disease. These data support further investigation into the role of immunotherapy for vulvar melanoma to optimize outcomes.

Vulvar melanoma: an analysis of prognostic factors and treatment patterns / 부인종양

Objective@#Melanoma comprises 5% to 10% of vulvar cancers and prognosis is poor. The purpose of this study was to identify prognostic factors and treatment patterns for vulvar melanoma using the National Cancer Database (NCDB). @*Methods@#The NCDB was queried for patients with invasive vulvar melanoma from 2004–2015. Descriptive statistics were generated to describe clinical and treatment details.Multivariable Cox regression and the Kaplan-Meier method were used to examine overall survival (OS). @*Results@#1,917 patients with vulvar melanoma met inclusion criteria. Median follow-up time was 32 months (range, 0–151 months). Older age, larger tumor size, advanced disease stage, increased Charlson-Deyo comorbidity score, and care at a non-academic center were independent predictors for decreased OS. Surgical management of the primary site, lymph node surgery, and insurance provided a significant survival benefit. Use of immunotherapy for vulvar melanoma has increased over time. Two-year OS with immunotherapy in patients with distant metastatic disease was higher, although this did not reach statistical significance (33% vs. 12%, p=0.054). @*Conclusions@#Vulvar melanoma has a poor prognosis for those with regional and distant metastatic disease. Extent of disease, tumor size, and patient age are important prognostic factors. Other favorable factors included insurance and surgical management. The use of immunotherapy has increased over time and may improve survival in those with distant disease. These data support further investigation into the role of immunotherapy for vulvar melanoma to optimize outcomes.

Production and Performance Evaluation of External Quality Assessment Materials for Human Epididymis Protein 4 Assay / 임상검사와정도관리

BACKGROUND: External quality assessment (EQA) is important for standardizing cancer biomarker assays, thereby, ensuring accurate and precise results. Although the human epididymis-specific protein 4 (HE4) assay has been increasingly used to detect and monitor ovarian malignancy in Korea, a nation-wide EQA program for HE4 has not been appropriately established. To conduct an EQA program, a large amount of quality control (QC) materials are required. This study aimed to produce HE4 QC materials for an EQA program and evaluate their homogeneity and stability. METHODS: QC materials for three different concentrations of HE4 were produced from the collected remnant sera of 275 patients for whom the HE4 assays were performed. These materials were evaluated for homogeneity between vials and stability during storage. The frozen QC materials were distributed to 13 representative organizations for a provisional EQA. RESULTS: The total coefficient of variation of the HE4 QC materials of three concentrations was 0.75%–1.24%, and no significant differences were noted between vials; therefore, the samples were considered to be homogenous. With respect to stability, the HE4 QC materials were found to be stable till 30 days when frozen and for 24 hours when refrigerated. The results of the provisional HE4 EQA were reviewed and the survey results were reported to each participant. CONCLUSIONS: The HE4 QC materials produced from remnant specimens were found to be homogenous between vials and stable in a frozen condition until 30 days. The findings of this study may be practically applied for establishing a future HE4 EQA program.

Timing for initiation of sequential continuous renal replacement therapy in patients on extracorporeal membrane oxygenation

BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is a lifesaving therapy used in critically ill patients with severe cardiopulmonary dysfunction. Continuous renal replacement therapy (CRRT) is supplemented to treat fluid overload, acute kidney injury, and electrolyte disturbances during ECMO. However, the best time to initiate CRRT is not well-defined. We performed this study to identify the optimal timing of CRRT for ECMO. METHODS: We conducted a multicenter retrospective cohort study of 296 patients over 12 years. Patients received CRRT during ECMO at Seoul National University Hospital, Seoul National University Bundang Hospital, or Yonsei University Hospital. We assigned patients to an early or late CRRT group depending on the CRRT initiation time. We considered early CRRT to be CRRT instituted within 72 hours of ECMO initiation. RESULTS: Among 296 patients, 212 patients (71.6%) received early CRRT. After using a propensity score matching method, 47 patients were included in each group. The time from ECMO initiation to CRRT initiation was 1.1 ± 0.9 days in the early CRRT group and 14.6 ± 18.6 days in the late CRRT group. No difference in patients’ mortality (P = 0.834) or hospital stay (P = 0.627) between the early and late CRRT groups was found. After adjusting all covariables, there was no significant difference in mortality between the early and late CRRT groups (hazard ratio, 0.697; 95% confidence interval, 0.410–1.184; P = 0.182). CONCLUSION: This study showed that early CRRT may not be superior to late CRRT in ECMO patients. Further clinical trials are warranted.

Clinical Usefulness of Unenhanced Computed Tomography in Patients with Acute Pyelonephritis

BACKGROUND: Unenhanced computed tomography (UCT) may be useful for evaluating acute pyelonephritis; however, no study has compared UCT with enhanced computed tomography (ECT) as a diagnostic tool. We evaluated a clinical usefulness of UCT versus ECT in acute pyelonephritis (APN). METHODS: We reviewed the clinical and radiological data from 183 APN-suspected patients who underwent UCT and ECT simultaneously at emergency room (ER) over a two-year period. Demographic, clinical parameters and computed tomography (CT) parameters of 149 patients were compared. RESULTS: The average patient age was 61.2 (± 10) years: 31 patients were men. Ninety-nine (66.4%) patients showed stones (18.7%), perinephric infiltration (56%), swelling (21%), and hydronephrosis (6.7%) on UCT. Seventeen patients (11.4%) had an atypical clinical course, requiring additional tests for accurate diagnosis. In 7 patients UCT and ECT results did not differ; in 10 patients, the diagnosis changed on ECT. On ECT, 112/149 (75.2%) patients had stones (16.7%), perinephric infiltrations (57%), swelling (21%), and hydronephrosis (6.7%); 62.5% showed parenchymal involvement: 34 (22.8%) patients had no abnormal ECT findings. APN CT findings are similar on stone, perinephric infiltration, swelling and hydronephrosis on both CTs. Twelve patients (8.0%) had an abnormal ECT finding, i.e., low-grade (1 and 2) parenchymal involvement. Six (4%) patients developed contrast-induced acute kidney injury within 2 days after ECT. CONCLUSION: We demonstrate that UCT is not inferior to ECT as an initial tool for evaluating APN for screening nephrolithiasis and hydronephrosis without the risk of contrast-induced acute kidney injury (CIAKI). However, patients with an atypical clinical course may still need ECT.

Is Frailty a Modifiable Risk Factor of Future Adverse Outcomes in Elderly Patients with Incident End-Stage Renal Disease?

Little is known about the clinical significance of frailty and changes of frailty after dialysis initiation in elderly patients with end-stage renal disease (ESRD). We prospectively enrolled 46 elderly patients with incident ESRD at a dialysis center of a tertiary hospital between May 2013 and March 2015. Frailty was assessed by using a comprehensive geriatric assessment protocol and defined as a multidimensional frailty score of ≥ 10. The main outcome was the composite of all-cause death or cardiovascular hospitalization, as determined in June 2016. The median age of the 46 participants was 71.5 years, and 63.0% of them were men. During the median 17.7 months follow-up, the rate of composite outcome was 17.4%. In multivariate logistic regression analysis, after adjusting for age, sex, diabetes, body mass index (BMI), and time of predialytic nephrologic care, female sex, and increased BMI were associated with increased and decreased odds of frailty, respectively. In multivariate Cox proportional hazards analysis, after adjusting for age, sex, diabetes, BMI, and time of predialytic nephrologic care, frailty was significantly associated with the composite adverse outcome. In repeated frailty assessments, the multidimensional frailty score significantly improved 12 months after the initiation of dialysis, which largely relied on improved nutrition. Therefore, frailty needs to be assessed for risk stratification in elderly patients with incident ESRD.

Prevalence of Vitamin D Deficiency and Insufficiency in Korean Children and Adolescents and Associated Factors

BACKGROUND: The objective of this study was to assess the serum 25-hydroxyvitamin D (25OHD) status and evaluate the associated factors in a Korean pediatric population aged 0-18 yr. METHODS: Serum 25OHD levels were retrospectively analyzed in 13,236 Korean children and adolescents. 25OHD tests by chemiluminescent immunoassay were requested from 332 medical institutions nationwide in Korea between January 2014 and December 2014. Prevalence of vitamin D deficiency (VDD) and insufficiency (VDI) and the associated factors were analyzed. VDD and VDI were defined as serum 25OHD levels of <20.0 ng/mL and 20.0-29.9 ng/mL, respectively. RESULTS: The 25OHD levels negatively correlated with age (r=-0.4033, P<0.001). Overall, 79.8% boys and 83.8% girls had hypovitaminosis D (VDI or VDD). The Odds ratios (ORs) of being in the VDD/VDI category as against the reference category of VDS (vitamin D sufficiency) were as follows: increase in age by 1 yr (OR=1.42/1.25, all P<0.001); girls (OR=1.32/1.16, P<0.001/P=0.004) compared to boys, spring (OR=1.61/1.80), fall (OR=1.31/1.28), and winter (OR=1.44/2.03, all P<0.001) compared to summer season; living in urban areas (OR=1.23, P<0.001) compared to rural areas. CONCLUSIONS: VDD and VDI are highly prevalent in children and adolescents in Korea. Serum 25OHD levels decreased significantly according to increasing age. Winter and spring seasons, increasing age, female sex, and living in urban areas are the factors associated with a high risk of VDD or VDI.

Staphylococcus saprophyticus Bacteremia originating from Urinary Tract Infections: A Case Report and Literature Review

Staphylococcus saprophyticus is a common pathogen of acute urinary tract infection (UTI) in young females. However, S. saprophyticus bacteremia originating from UTI is very rare and has not been reported in Korea. We report a case of S. saprophyticus bacteremia from UTI in a 60-year-old female with a urinary stone treated successfully with intravenous ciprofloxacin, and review the cases of S. saprophyticus bacteremia reported in the literature. Thus, the microorganism may cause invasive infection and should be considered when S. saprophyticus is isolated from blood cultures in patients with UTI.

Surgical impact on serum anti-Mullerian hormone in women with benign ovarian cyst: A prospective study

OBJECTIVE: The aim of this study was to evaluate the surgical impact of benign ovarian mass on ovarian reserve as measured by serum follicle stimulating hormone (FSH), estradiol (E2) and anti-Mullerian hormone (AMH) levels, antral follicle count (AFC) and ovarian volumes. In addition, the differences in ovarian reserve impairment between endometrioma cystectomy and non-endometrioma cystectomy were investigated. METHODS: In this prospective study, 22 patients of reproductive age (range, 18.35 years) with benign ovarian masses were enrolled to undergo laparoscopic cystectomy. Of whom 12 had endometriomas and 10 had non-endometriomas. On early follicular phase (day 3) of the cycle preceding the operation and three months after the laparoscopic cystectomy, serum levels of FSH, E2 and AMH, AFC and ovarian volumes were measured in all patients. Data were analyzed with Mann-Whitney U-test and Wilcoxon rank test using SPSS ver. 12.0 for statistic analysis. RESULTS: Median level of serum AMH was significantly decreased from 5.48 ng/mL (interquartile range [IQR], 2.80-7.47) before cystectomy to 2.56 ng/mL (IQR, 1.74-4.32) 3 months postoperation (P<0.05). On the other hand, no significant differences in FSH, E2, AFC and ovarian volumes were found between the preoperative and three months postoperative levels. In a subgroup analysis of the pathologic type of the ovarian cyst, postoperative serum AMH levels were significantly decreased in the endometrioma group, but not in the non-endometrioma group. CONCLUSION: Serum AMH levels were significantly decreased after laparoscopic cystectomy without any changes of other ovarian reserve tests.

Cyclosporine A as a Primary Treatment for Panniculitis-like T Cell Lymphoma: A Case with a Long-Term Remission / Journal of the Korean Cancer Association, 대한암학회지

Subcutaneous panniculitis-like T cell lymphoma (SPTL) is a distinctive cutaneous lymphoma characterized by an infiltration of subcutaneous tissue by neoplastic T cells, similar to panniculitis. It is well-established that patients who are diagnosed with SPTL usually respond poorly to chemotherapy, showing fatal outcome. As a first line treatment for SPTL, anthracycline-based chemotherapy was most frequently used. For the treatment of SPTL, the efficacy of cyclosporine A has been recently reported in relapsed SPTL after anthracycline-based chemotherapy. However, it is still not clear whether cyclosporine A can be used as a first-line treatment against SPTL. Here, we report a case of SPTL, which achieved complete remission for nine years after first-line cyclosporine A therapy. This study suggests that cyclosporine A can induce a complete long-term remission as a first-line treatment.

The Prevalence of Vaginal Microorganisms in Pregnant Women with Preterm Labor and Preterm Birth

BACKGROUND: To investigate the risk factors for vaginal infections and antimicrobial susceptibilities of vaginal microorganisms among women who experienced preterm birth (PTB), we compared the prevalence of vaginal microorganisms between women who experienced preterm labor (PTL) without preterm delivery and spontaneous PTB. METHODS: Vaginal swab specimens from 126 pregnant women who experienced PTL were tested for group B streptococcus (GBS), Mycoplasma hominis, Mycoplasma genitalium, Ureaplasma urealyticum, Chlamydia trachomatis, Trichomonas vaginalis, Neisseria gonorrhoeae, Treponema pallidum, herpes simplex virus (HSV) I and II, and bacterial vaginosis. A control group of 91 pregnant women was tested for GBS. Antimicrobial susceptibility tests were performed for GBS, M. hominis, and U. urealyticum. RESULTS: The overall detection rates for each microorganism were: U. urealyticum, 62.7%; M. hominis, 12.7%; GBS, 7.9%; C. trachomatis, 2.4%; and HSV type II, 0.8%. The colonization rate of GBS in control group was 17.6%. The prevalence of GBS, M. hominis, and U. urealyticum in PTL without preterm delivery and spontaneous PTB were 3.8% and 8.7% (relative risk [RR], 2.26), 3.8% and 17.3% (RR, 4.52), and 53.8% and 60.9% (RR, 1.13), respectively, showing no significant difference between the 2 groups. The detection rate of M. hominis by PCR was higher than that by culture method (11.1% vs. 4.0%, P=0.010). The detection rates of U. urealyticum by PCR and culture method were 16.7% and 57.1%, respectively. CONCLUSIONS: There was no significant difference in the prevalence of GBS, M. hominis, and U. urealyticum between the spontaneous PTB and PTL without preterm delivery groups.

A nationwide seroprevalence of total antibody to hepatitis A virus from 2005 to 2009: age and area-adjusted prevalence rates / 대한간학회지

BACKGROUND/AIMS: Recent outbreak of hepatitis A in Korea is clearly related to the epidemiological shift of hepatitis A virus (HAV). However, nationwide seroprevalence data have been limited. This study estimated the nationwide, age- and area-adjusted anti-HAV prevalence from 2005 to 2009. METHODS: Retrospective analysis of the results of total anti-HAV test in 25,140 cases which were requested by 1,699 medical institutions throughout the nation to Seoul Clinical Laboratory from Jan. 1 2005 to Dec. 31 2009 was performed. The estimated seroprevalence was adjusted by area and age of the standard population based on the 2005 Census data from Korea National Statistical Office. RESULTS: The area-adjusted anti-HAV prevalence in the children younger than 10 years were 33.4% in 2005 and 69.9% in 2009. The most susceptible age groups to HAV infection during the last 5 years were teenagers and the young adults in their age of twenties. The area-adjusted seroprevalence in 2009 were 11.9% in the age group of 20-29 years, 23.4% in the age group of 10-19 years, 48.4% in the age group of 30-39 years. The population in 40-49 years showed geographically different seroprevalence with the lowest rate in Seoul (80%). CONCLUSIONS: The most susceptible age group to HAV infection is 10-29 years, while the young children less than 10 years showed about 70% seropositivity. The changing seroepidemiology should be monitored continuously for the proper vaccination and patient care.

Concentrations of Blood Vitamin A, C, E, Coenzyme Q10 and Urine Cotinine Related to Cigarette Smoking Exposure / 대한진단검사의학회지

BACKGROUND: In smokers, smoking causes many disease entities including cancers, chronic pulmonary diseases and cardiovascular diseases. Passive smoking is also accepted as a carcinogen and its adverse health effects are emphasized. We measured blood vitamin A, C, E (alpha-, beta- and gamma-tocopherol), coenzyme Q10 and urine cotinine concentrations in nonsmokers and smokers. METHODS: Twenty-one healthy nonsmokers and 24 healthy smokers were included in this study. Smoking status was assessed with a self-reported questionnaire. Plasma was analyzed for coenzyme Q10 and serum for vitamin A, C, E using HPLC (Agilent Technologies Inc., USA) and random urine for cotinine using LC/tandem mass spectrometry (Applied Biosystems Inc., Canada). RESULTS: Smokers had significantly lower serum concentrations of vitamin C than nonsmokers (P=0.0005). No significant differences in concentrations of serum vitamin A, E, and plasma coenzyme Q10 were observed. Smokers had highly elevated urine cotinine levels (1,454+/-903 ng/mL). In 16 (76.2%) of 21 nonsmokers, urine cotinine was detected (3.25+/-4.08 ng/mL). The correlations between urine cotinine and blood antioxidants levels were not found. Neither, the correlation between smoking status and blood antioxidants & urine cotinine was found. CONCLUSIONS: This study shows that smokers had significantly lower vitamin C levels among nonenzymatic antioxidants, namely, vitamin A, C, E and coenzyme Q10. High detection rate of urine cotinine in nonsmokers show the seriousness of passive smoking exposure, therefore more social efforts should be directed to reduce passive smoking exposure.

An Epidemiological Analysis of Hepatitis A Virus Serologic Markers during the Recent Four Years in Korea / 대한진단검사의학회지

BACKGROUND: To establish effective preventive measures for hepatitis A virus (HAV) infection, a nationwide epidemiologic study on seroprevalence of anti-HAV and the disease prevalence is needed. The aim of this study was to analyze the recent sero-epidemiological changes of hepatitis A markers in Korea. METHODS: The results of 11,068 anti-HAV total and 32,360 anti-HAV IgM tests by electro-chemiluminescence immunoassay (ECLIA) that had been requested in recent four years (2005-2008) to a reference medical laboratory from 1,699 institutions nationwide were retrospectively analyzed according to the distribution of year, sex, and age groups. RESULTS: The overall positive rate of anti-HAV total was 62.8%. The overall positive rate of anti-HAV IgM was 11.0%, showing a significantly increasing trend by year: 7.7%, 10.9%, 8.9%, and 14.3% in 2005, 2006, 2007, and 2008, respectively (P or =21 yr. Conclusion: In accordance with a decreasing sero-positivity of anti-HAV total, the prevalence of acute hepatitis A virus infection has been considerably increased during the recent four years in the age groups of > or =21 yr. The results of this study could be used effectively as a basic data for establishing effective preventive measures for hepatitis A including vaccination in these susceptible age groups.

Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses / 대한진단검사의학회지

BACKGROUND: Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has increased markedly because the number and proportion of pregnancies in women aged 35 yr and older have increased over a 20-yr period. Here we report clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses. METHODS: To investigate the changes in the annual number of amniocentesis, distribution of indications and age, and cytogenetic findings and abnormality rate according to indications, this study retrospectively analyzed 31,615 cases of mid-trimester amniocentesis performed at Seoul Clinical Laboratories, an independent medical laboratory center, during the past 13 yr (1994-2007). RESULTS: The annual number of amniocenteses has increased substantially since 1994. Among the 31,615 amniocentesis cases, the maternal age between 30 and 34 yr was the most common age group (35.4%). Among clinical indications, abnormal maternal serum screening results have been the most common indication for amniocentesis since 1994. Chromosomal abnormalities were detected in 973 cases (3.1%). Down syndrome was the most common abnormality found (36.9%, 359/973). In sex chromosomal abnormalities, 53 cases of Turner syndromes, 32 cases of Klinefelter syndromes, 20 cases of triple X syndromes, and 15 cases of 47,XYY were diagnosed. Of structural rearrangements, reciprocal translocations between two autosomes were the most common (15.5%, 151/973). Abnormal ltrasonographic findings showed the highest positive predictive value (5.9%) among the clinical indications. CONCLUSIONS: The present study could be used for the establishment of a database for genetic counseling. The discovery of an abnormality provides the option of termination or continuation in the pregnancy, a more suitable obstetric management in Korea.

Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry

PURPOSE: In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began screening for inherited metabolic disorders using MS/MS in April, 2001. Our goal was to determine the overall prevalence of metabolic disorders and to assess the effectiveness of newborn screening by MS/MS in Korea. METHODS: From April, 2001 to December, 2007, we screened newborns and high risk groups using MS/MS. Acylcarnitines and amino acids were extracted and butylated and were introduced into the inlet of MS/MS. Confirmatory testing including a repeat newborn screening, and urine organic acid and plasma amino acid analysis were performed on a case-by-case basis. RESULTS: The total number of screened subjects 284,933 which comprised 251,799 neonates and 33,134 high risk subjects. The recall rate was 0.4% (1158 tests) and true positive cases were 117 (0.04%). Confirmed metabolic disorders (newborn/high risk group) were as follows; 78 (25/53) amino acid disorders, 27 (16/11) organic acid disorders, and 12 (5/7) fatty acid oxidation disorders. The estimated prevalence of inherited metabolic diseases in newborns was 1:5,000 and that in the total group was 1:2,000. CONCLUSION: Newborn screening by MS/MS improved the detection of many inherited metabolic disorders. We therefore propose that all newborns be screened by a MS/MS national program and followed-up using a systemic organization strategy.

Rapid prenatal diagnosis of chromosome aneuploidies in 943 uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH)

PURPOSE: Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in many clinical cytogenetics laboratories. Here, we retrospectively analyzed the results of interphase FISH in 943 amniotic fluid samples and assessed the efficiency of FISH for rapid detection of aneuploidies. METHODS: Interphase FISH for chromosome 13, 18, and 21 was performed in 943 consecutive amniotic fluid samples for rapid diagnosis of aneuploidies referred from 2004 to 2006. Karyotypes from standard cytogenetic analysis were compared to the FISH results. RESULTS: A total of 45 chromosomal rearrangements (4.8%) were found after conventional cytogenetic analysis of the 943 amniotic fluid. After exclusion of known familiar chromosomal rearrangements and inversions (2.1%, 20/943), 2.7% (25/943) were found to have chromosomal abnormalities. Of this group, 0.7% (6/943) were chromosomal abnormalities not detectable by FISH and 2.0% (19/943) were numerical abnormalities detectable by FISH. All 14 cases of Down syndrome (Classic type, 13 cases; Robertsonian type, 1 case) and 5 cases of trisomy 18 were diagnosed and detected by FISH and there were no false-positive or -negative results (specificity and sensitivity=100%). CONCLUSION: The present study demonstrates that FISH can provide a rapid and sensitive clinical method for prenatal identification of chromosome aneuploidies. However, careful genetic counseling is essential to explain the limitations of FISH, including the inability to detect all chromosomal abnormalities and the possibilities of uninformative or false-negative results in some cases.

Calf Reduction Using Radiofrequency(RF) Directed to the Gastrocnemius Muscle

According to recent research, Korean women are very interested in calf reduction. Asian women want to have slim and straight legs more than Occidental women. Thick calves are divided by three types. One is muscular hypertrophy type and another is lipodystrophy type, and the other is mixed type. The authors focused on medial gastrocnemius muscle hypertrophy using radiofrequency generator. From July 2004 to July 2007, We did calf reductions for women who wanted to have aesthetically slim legs. Under intravenous anesthesia, we made a tiny pin hole with 18 gauze needle and injected local anesthetics. Radiofrequency probe(Dr. Oppel(R) radiofrequency, Sometech Medical Co.) was inserted and then We produced radiofrequency energy with a foot switch and made mean 150-200 points focal coagulation necrosis at each medial gastrocnemius muscle. There were little major complications such as seroma, hematoma, infection, gait disturbance, scar, sensory change etc. Some patients had moderate swelling during first week, but it was improved soon. Calf reduction using radiofrequency energy is very useful tool for hypertrophied medial gastrocnemius muscle. But we need more study for standardization of energy power, for certain amount of muscle damage to have reproducibility for predictability of durability and for possibility of rebound hypertrophy.