OBJECTIVE: The purpose of this investigation was to establish the prenatal diagnosis for identifying the risk for epidermolytic palmoplantar keratoderma(EPPK) of a fetus by sequence analysis of fetal genomic DNA from chorionic villi. METHODS: Chorionic villus sampling under transvaginal sonography at 12 weeks of gestation from a woman at risk for a child in a EPPK-affected family was perfomed. Polymerase chain reaction amplification of specific allele (PASA) assay was carried out for the detection of mutation(R162W in keratin 9 [K9] gene) previously identified in this family. Direct DNA sequencing analysis of K9 gene was accomplished to confirm the mutation. RESULTS: We had found the point mutation, R162W of K9 gene, in affected family members and confirmed by PASA assay. Affected family members were shown to have PCR products reactive with both the mutant and wildtype specific primers. Because we could not find any expected products after PASA assay with the primers la(+)/KSmt(-) of the fetal DNA, we predicted that the fetus did not inherited the mutant allele and that the fetus could be unaffected. After PASA assay, we analyzed DNA sequences of two family members to confirm the mutation. A C-to-T substitution at bp 545 was detected in the father, instead the fetus did not have any mutant band at that base pair. CONCLUSION: The PASA assay and direct DNA sequencing analysis of K9 gene through chorionic villi sampling and extraction of genomic DNA had validity to early prenatal diagnosis whether fetus was affected in EPPK or not.
Alleles ; Base Pairing ; Base Sequence ; Child ; Chorionic Villi ; Chorionic Villi Sampling ; DNA* ; Fathers ; Female ; Fetus ; Humans ; Keratin-9 ; Keratoderma, Palmoplantar, Epidermolytic* ; Point Mutation ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis* ; Sequence Analysis ; Sequence Analysis, DNA

OBJECTIVE: To determine the fetal aneuploidy in fetal blood cells from cordocentesis. METHODS: We analyzed their karyotype and performed fluorescence in situ hybridization(FISH) for chromosome 18, 21, X, and Y in 14 cases of fetal blood cells from cordocentesis at Department of Obstetrics & Gynecology, College of Medicine, Seoul National University and Hamchoon Women's Clinic. RESULTS: In all cases we obtained the consistent results in both methods and were able to rapidly detect aneuploidy in uncultured fetal blood cells using FISH before karyotyping with culture for 48 hr. The averages for accuracy of FISH were from 84.6 % to 93.9%. CONCLUSION: In this study we suggest that the rapid detection in uncultured fetal blood using FISH is possible and that this diagnostic method will be clinically useful when rapid result would be demanded.
Aneuploidy* ; Chromosomes, Human, Pair 18 ; Cordocentesis ; Fetal Blood* ; Fluorescence* ; Gynecology ; In Situ Hybridization* ; Karyotype ; Karyotyping ; Obstetrics ; Seoul

HHV-8 virus is known to be associated with Kaposi's sarcoma (KS) in HIV seropositive patients and its seroprevalence has geographic difference. In South Korea, incidence of KS is low not only in general population but also in HIV patients compared to other countries. It is speculated that low seroprevalence of HHV-8 has contributed to the low incidence of KS in South Korea. We examined the seroprevalence of anti HHV-8 IgG of HIV seronegative health care workers in one University hospital. Enzyme-linked immunosorbent assay(ELISA) was used for diagnosis. One person (0.6%, 1/164) was seropositive, six were equivocal (3.7%, 6/164) and 157 people were seronegative (95.73%, 157/164). This study revealed that seroprevalence of HHV-8 in general population was low in South Korea. Further studies are needed to be carried out to evaluate the low HHV-8 seroprevalence in Korea.
Delivery of Health Care ; Herpesvirus 8, Human ; HIV ; Humans ; Immunoglobulin G ; Incidence ; Korea ; Republic of Korea ; Sarcoma, Kaposi ; Seroepidemiologic Studies ; Viruses

HHV-8 virus is known to be associated with Kaposi's sarcoma (KS) in HIV seropositive patients and its seroprevalence has geographic difference. In South Korea, incidence of KS is low not only in general population but also in HIV patients compared to other countries. It is speculated that low seroprevalence of HHV-8 has contributed to the low incidence of KS in South Korea. We examined the seroprevalence of anti HHV-8 IgG of HIV seronegative health care workers in one University hospital. Enzyme-linked immunosorbent assay(ELISA) was used for diagnosis. One person (0.6%, 1/164) was seropositive, six were equivocal (3.7%, 6/164) and 157 people were seronegative (95.73%, 157/164). This study revealed that seroprevalence of HHV-8 in general population was low in South Korea. Further studies are needed to be carried out to evaluate the low HHV-8 seroprevalence in Korea.
Delivery of Health Care ; Herpesvirus 8, Human ; HIV ; Humans ; Immunoglobulin G ; Incidence ; Korea ; Republic of Korea ; Sarcoma, Kaposi ; Seroepidemiologic Studies ; Viruses

PURPOSE: Extremely-low-birth-weight infants (ELBWIs), especially those < or =24 gestational weeks (GW), presented extremes in IWL and changes of water balance. The purpose of the present study was to retrospectively investigate fluid and electrolyte balance in infants of < or =24-GW during the first postnatal week under high humidification. METHODS: Medical records of extremely-low-birth-weight infants (ELBWIs) who were born and admitted to the Neonatal Intensive Care Unit at Samsung Medical Center during March 2004-September 2010 were reviewed. Fluid intake, urine output, insensible water loss (IWL), and electrolyte balance of 22-GW (n=14), 23-GW (n=40), and 24-GW (n=67) infants nursed in high humidity (95%) were compared with > or =26-GW (n=65) infants nursed in 60% humidity. RESULTS: Survival rate until discharge was 33%, 82%, 75%, and 89.3% in 22-GW, 23-GW, 24-GW, and > or =26-GW infants, respectively. Fluid intake and IWL was higher in 22-GW and 23-WG, but not different in 24-GW, than in > or =26-GW infants. At postnatal days (P) 3-5, the urine output was significantly lower in > or =26-GW infants than in the other age groups. Serum sodium level was significantly higher in 22-, 23-, and 24-GW (P1-2) than in > or =26-GW infants. Hypernatremia (>150 mEq/dl sodium) was more frequent in 22-GW (71%), 23-GW (41%), and 24-GW (21%) than in > or =26-GW infants (14%). CONCLUSION: High-humidity environments significantly decreased fluid intake and improved electrolyte imbalance in 24-GW, but not 22- and 23-GW, infants. Increased IWL in the latter might be related to more immature skin, and implicates the need for additional nurturing conditions.
Apnea ; Electrolytes ; Humans ; Humidity ; Hypernatremia ; Infant ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Medical Records ; Retrospective Studies ; Seizures ; Skin ; Sodium ; Survival Rate ; Water Loss, Insensible ; Water-Electrolyte Balance

BACKGROUND: We applied the pediatric risk of mortality (PRISM) III score to study patients in a pediatric intensivecare unit (PICU), where children with various kinds of diseases were hospitalized. We analyzed whether this scoring system was useful to predict patient mortality in the PICU. METHODS: We retrospectively analyzed the medical records of patients hospitalized in a 5-bed PICU at a tertiary general hospital. Children who were transferred to other hospitals and remained under pediatric intensive care were excluded from this study. RESULTS: We studied a total of 105 children, which included 63 boys (60%) and 42 girls (40%). The mean age was 4.2 years (range 0-17 years). The children were admitted to the PICU for various conditions, including respiratory disease (31 children), neurological disease (30 children), congenital anomaly or neonatal disease (11 children), hemato-oncological disease (10 children), accident or poisoning (7 children), cardiovascular disease (5 children), sepsis (2 children), and the other miscellaneous diseases (9 children). The mean period of PICU stay was 9 days (range 2-66 days). Out of the 105 patients, 94 survived and 11 died. Thus, the mortality rate was calculated as 10.5%. PRISM III scores of the patients were between 0 and 38, with a mean +/- SD of 5.0 +/- 6.7. In comparison with previous studies on PICU patients with similar PRISM scores, the patients included in our study exhibited a higher mortality. The area under the curve for the prediction of mortality by PRISM III was 0.107. Among the variables included in PRISM III, Glasgow coma scale, pupillary light reflex, and platelet counts were associated with patient mortality. CONCLUSIONS: In a PICU with a wide spectrum of diseases, PRISM III was not a useful predictor of patient mortality.
Cardiovascular Diseases ; Child ; Glasgow Coma Scale ; Hospitals, General ; Humans ; Critical Care ; Intensive Care Units ; Light ; Medical Records ; Platelet Count ; Reflex ; Retrospective Studies ; Sepsis

PURPOSE: Epidemiologic data on emergency department (ED) patients with systemic inflammatory response syndrome (SIRS) are limited. We examined the prevalence, risk factors, etiologies and outcomes for the various forms of the SIRS, as well as their relationships with infection in ED. METHODS: The subjects were 16,718 non-trauma adult patients who visited a 900- bed university hospital ED between November 2006 and October 2007. ED records were reviewed, and all patients meeting the criteria for SIRS were enrolled retrospectively. SIRS patients were further subdivided into four groups (non-infectious SIRS, sepsis, severe sepsis, septic shock). Baseline characteristics, ED dispositions, and prognoses of patients in each group were analyzed. RESULTS: Among 16,718 patients, there were 2,790 SIRS patients (16.7%). The SIRS patient group was composed of 1,546 non-infectious SIRS patients (55.4%), 1,078 sepsis patients (38.6%), 119 severe sepsis patients (4.3%), and 47 septic shock patients (1.7%). ED patients with SIRS were older on average than non-SIRS patients (52 versus 48, p<0.001). The most common sources of SIRS was the gastrointestinal system (28.3%), followed by the respiratory system (22.9%) and the genitourinary system (11.8%). Pneumonia (18.9%) was the single most common cause of infectious SIRS. The admission rate was higher for SIRS patients than for non-SIRS patients (44% versus 21%). The 28-day mortality rate for non-infectious SIRS, sepsis, severe sepsis, and septic shock patients were 4.5%, 1.3%, 25.2%, and 63.8%. Sepsis severity was correlated with increased rates of both hospital admission and mortality (p<0.001). CONCLUSION: 55% of SIRS patients who visited the ED had a non-infectious cause. SIRS patients were older than non-SIRS patients, and hospital and ICU admission rates were also higher. Sepsis severity was correlated with older age, increased hospital admission rate, increased ICU admission rate, and increased mortality rate.
Adult ; Emergencies ; Epidemiologic Studies ; Hospitals ; Humans ; Pneumonia ; Prevalence ; Prognosis ; Respiratory System ; Retrospective Studies ; Risk Factors ; Sepsis ; Shock, Septic ; Systemic Inflammatory Response Syndrome ; Urogenital System

PURPOSE: The purpose of this study was to examine the usefulness of abdominal sonography in the diagnosis of necrotizing enterocolitis (NEC). METHODS: We reviewed the medical records of 51 neonates who were diagnosed with NEC in the neonatal intensive care unit at Yeouido St. Mary's Hospital of the Catholic University in Korea between January 2008 and December 2012. The neonates underwent abdominal ultrasonography on the day of their diagnosis and on the third day after diagnosis. Simple abdominal radiography was performed on the same day as the sonography. The neonates were diagnosed with NEC in accordance with the abdominal sonographic findings. Abdominal radiography and sonography were used to assess the NEC stages in the neonates. RESULTS: On the day of NEC diagnosis by abdominal sonography, 50 neonates were diagnosed with stage II NEC and 1 was diagnosed with stage III NEC. However, simple radiography diagnosed 49 neonates with stage I NEC, 1 with stage II NEC, and 1 with stage III NEC. On the third day after NEC diagnosis by abdominal sonography, 48 neonates were diagnosed with stage II NEC and 3 were diagnosed with stage III NEC. On the other hand, simple radiography diagnosed 26 neonates with stage I NEC, 24 with stage II NEC, and 1 with stage III NEC. CONCLUSION: Abdominal sonography can be used as a tool for accurately diagnosing NEC and treating neonates showing ambiguous symptoms during the early stages of NEC.
Diagnosis* ; Early Diagnosis ; Enterocolitis, Necrotizing* ; Hand ; Humans ; Infant, Newborn ; Intensive Care, Neonatal ; Korea ; Medical Records ; Radiography ; Radiography, Abdominal ; Ultrasonography

PURPOSE: Flexible bronchoscopy is effectively used in the diagnosis and treatment of respiratory diseases in children. This report attempted to analyze the indication, effectiveness, and complications of bronchoscopy in children who visited a single tertiary care, university-based hospital in Korea. METHODS: A retrospective review was conducted of the medical records of a total of 100 cases of flexible bronchoscopy that were performed at the Department of Pediatrics of the Catholic University of Korea Seoul St. Mary's Hospital from April 8, 2007 to June 16, 2010. RESULTS: A total of 85 patients (48 males and 37 females) were involved in the study. The range in age was 5 days old to 18 years old. Eighty cases were for diagnosis, 7 cases for treatment, and 13 cases for both. The purpose of flexible bronchoscopy was accomplished in 67 of 100 cases. In 60 cases where bronchoalveolar lavage was provided, microbial organisms were identified in 38 cases. Minor complications were observed in 12 cases. CONCLUSION: Pediatric flexible bronchoscopy is shown to be an effective and safe diagnostic and interventional tool, even in young or immunocompromised hosts. This study also found that children under one year of age were more frequently treated with bronchoscopy and that the detection rate in microbiological diagnosis was improved due to the introduction of the virus polymerase chain reaction method.
Bronchoalveolar Lavage ; Bronchoscopy ; Child ; Humans ; Immunocompromised Host ; Korea ; Male ; Medical Records ; Pediatrics ; Polymerase Chain Reaction ; Retrospective Studies ; Tertiary Healthcare ; Viruses

Severe symptomatic hyponatremia shows high mortality in association with cerebral edema and central nervous system dysfunction. Postoperative hyponatremia is usually attributed to administration of hypotonic fluids while antidiuretic hormone is acting. However, we experienced a severe symptomatic hyponatremia in spite of infusion of lactated Ringer's solution perioperatively in a case of 4-year-old girl's tonsillectomy. Inappropriate secretion of ADH caused by pain, stress, anxiety, nausea, vomiting. Paralytic ileus developed several hours after surgery, severe hyponatremia (Na 119 mmol/L) with convulsion notified. After prompt infusion of sodium supplement and fluid restriction, the patient recovered uneventfully.
Anxiety ; Brain Edema ; Central Nervous System ; Child, Preschool ; Humans ; Hyponatremia* ; Intestinal Pseudo-Obstruction* ; Mortality ; Nausea ; Seizures* ; Sodium ; Tonsillectomy* ; Vomiting