Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center

BACKGROUND AND OBJECTIVES: The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). METHODS: Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled. RESULTS: Of the 166 patients diagnosed with CHD, 81 underwent a-CGH and 11 patients (11/81, 13.5%) had abnormal findings on a-CGH. 22q11.2 deletion syndrome was the most common (4/11, 36.4%). On the first a-CGH, 4 patients were negative (4/81, 5%). Three of them were finally diagnosed with Williams syndrome using fluorescent in situ hybridization (FISH), 1 patient was diagnosed with Noonan syndrome through exome sequencing. All of them exhibited diffuse pulmonary artery branch hypoplasia, as well as increased velocity of blood flow, on repeated echocardiography. Five patients started rehabilitation therapy at mean 6 months old age in outpatient clinics and epilepsy was diagnosed in 2 patients. Parents of 2 patients (22q11.2 deletion syndrome and Patau syndrome) refused treatment due to the anticipated prognosis. CONCLUSIONS: Screening tests for genetic abnormalities using a-CGH in neonates with CHD has the advantage of early diagnosis of genetic abnormality during the neonatal period in which there is no obvious symptom of genetic abnormality. However, there are disadvantages that some genetic abnormalities cannot be identified on a-CGH.

Clinical presentation of croup in children according to causative viruses

PURPOSE: We evaluated the clinical features of croup in children according to viral etiology. METHODS: This study enrolled pediatric patients with croup, who showed positive results on respiratory virus reverse transcriptase polymerase chain reaction performed between January 2012 and December 2017. We retrospectively reviewed the medical records. RESULTS: A total of 179 patients (119 boys and 60 girls) were enrolled with the mean age of 18.9±14.7 months. The viruses commonly identified were parainfluenza, respiratory syncytial virus, rhinovirus, and influenza. Among these 4 viruses, patients with rhinovirus infection showed significantly shorter fever and admission durations. Patients with parainfluenza infection showed significantly lower incidences of epinephrine nebulization and patients with influenza infections showed significantly higher incidences of steroid treatment. CONCLUSION: Clinical manifestations of croup differ according to causative viruses. Further studies should be conducted to evaluate the severity and prognosis of croup according to viral etiology.

Outcome of neonatal palliative procedure for pulmonary atresia with ventricular septal defect or tetralogy of Fallot with severe pulmonary stenosis: experience in a single tertiary center / 소아과

PURPOSE: The present study aimed to evaluate progression and prognosis according to the palliation method used in neonates and early infants aged 3 months or younger who were diagnosed with pulmonary atresia with ventricular septal defect (PA VSD) or tetralogy of Fallot (TOF) with severe pulmonary stenosis (PS) in a single tertiary hospital over a period of 12 years. METHODS: Twenty with PA VSD and 9 with TOF and severe PS needed initial palliation. Reintervention after initial palliation, complete repair, and progress were reviewed retrospectively. RESULTS: Among 29 patients, 14 patients underwent right ventricle to pulmonary artery (RV-PA) connection, 11 palliative BT shunt, 2 central shunt, and 2 ductal stent insertion. Median age at the initial palliation was 13 days (1–98 days). Additional procedure for pulmonary blood flow was required in 5 patients; 4 additional BT shunt operations and 1 RV-PA connection. There were 2 early deaths among patients with RV-PA connection, one from RV failure and the other from severe infection. Finally, 25 patients (86%) had a complete repair. Median age of total correction was 12 months (range, 2–31 months). At last follow-up, 2 patients had required reintervention after total correction; 1 conduit replacement and 1 right ventricular outflow tract (RVOT) patch enlargements. CONCLUSION: For initial palliation of patients with PA VSD or TOF with severe PS, not only shunt operation but also RV-PA connection approach can provide an acceptable outcome. To select the most proper surgical strategy, we recommend thorough evaluation of cardiac anomalies such as RVOT and PA morphologies and consideration of the patient's condition.

Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center

BACKGROUND AND OBJECTIVES@#The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD).@*METHODS@#Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled.@*RESULTS@#Of the 166 patients diagnosed with CHD, 81 underwent a-CGH and 11 patients (11/81, 13.5%) had abnormal findings on a-CGH. 22q11.2 deletion syndrome was the most common (4/11, 36.4%). On the first a-CGH, 4 patients were negative (4/81, 5%). Three of them were finally diagnosed with Williams syndrome using fluorescent in situ hybridization (FISH), 1 patient was diagnosed with Noonan syndrome through exome sequencing. All of them exhibited diffuse pulmonary artery branch hypoplasia, as well as increased velocity of blood flow, on repeated echocardiography. Five patients started rehabilitation therapy at mean 6 months old age in outpatient clinics and epilepsy was diagnosed in 2 patients. Parents of 2 patients (22q11.2 deletion syndrome and Patau syndrome) refused treatment due to the anticipated prognosis.@*CONCLUSIONS@#Screening tests for genetic abnormalities using a-CGH in neonates with CHD has the advantage of early diagnosis of genetic abnormality during the neonatal period in which there is no obvious symptom of genetic abnormality. However, there are disadvantages that some genetic abnormalities cannot be identified on a-CGH.

Clinical Features and Outcomes of Renal Mycetoma Complicated by Candida Sepsis in Newborn Infants

PURPOSE: The kidney is a common site of end organ involvement in patients with candidemia. This study was undertaken to investigate clinical features and outcomes of renal mycetoma complicated by Candida sepsis in neonates. METHODS: A retrospective analysis of the medical records and radiologic images was conducted in a neonatal intensive care unit over a 9-year period (2002-2010). RESULTS: During the study period, there were 69 episodes of Candida sepsis. C. albicans was the most common pathogen (49.2%), and C. parapsilosis was the second (42%), but emerging. Of the 42 patients who underwent ultrasound examination in early phase of infection, renal mycetoma was observed in 8 cases (19.1%). Renal mycetoma was more frequently developed in patients with C. albicans sepsis than those with non-albicans candidemia, but the result was not significant. The demographic characteristics of the two groups of patients who had Candida sepsis (with renal mycetoma vs. without renal mycetoma) were similar. Candiduria was more common in the mycetoma group (P<0.01). In addition, the duration of antifungal medication was longer in patients with mycetoma (P<0.001). On follow-up ultrasounds, improvement and resolution of renal echogenic lesions took a median time of 2 and 5 months respectively for the mycetoma group. CONCLUSION: Candiduria may be an initial sign of renal mycetoma complicated by Candida sepsis in newborn infants. Echogenic foci on the renal ultrasound are persistent for a considerable period after antifungal therapy, and therefore follow-up evaluations are important.

Spontaneous Pneumomediastinum and Subcutaneous Emphysema in Children Infected with H1N1 Virus: A Case Report / 대한구급학회지

Spontaneous pneumomediastinum (SPM) is a rare condition in children which is triggered by respiratory infection and inflammation, although it occurs most commonly in asthmatics. It is caused by alveolar rupture and dissection of air into the mediastinum and hilum, and the prognosis is usually benign. We report two cases of SPM and subcutaneous emphysema complicating pneumonia in children with severe H1N1 infection. The patients were admitted to the intensive care unit and treated with oxygen, inhalation of a bronchodilator, intravenous systemic corticosteroid (methyprednisolone, 2 mg/kg/day for 5 days) and antibiotics, together with antiviral therapy. On day 4 after admission, there was no further evidence of SPM. SPM associated with severe H1N1 infection in children resolves with aggressive supportive care, without progression to pneumothorax. We should remain aware of this air leak complication in children with severe respiratory infection.

Clinical Aspects of Pneumonia with Tachypnea in Pediatric Patients with Influenza H1N1 / 소아알레르기및호흡기학회지

PURPOSE: We evaluated the clinical/laboratory characteristics and progress of pediatric patients hospitalized for pneumonia and laboratory-confirmed H1N1 influenza infection. METHODS: A total of 101 patients were enrolled. They were divided into 2 groups: group 1 with a fast respiration rate for age (n=66) and group 2 with an appropriate respiration rate for age (n=35). We retrospectively reviewed the medical charts to collect data on the hospitalized patients. RESULTS: Patients were significantly older in group 1 than in group 2 (median age, 7 vs. 4 years, p<0.001) and 59.0% were between 6 and 8 years of age. Sixteen patients (24.2%) in group 1 had underlying medical conditions, most of whom had asthma, and 50 were previously healthy. Oxygen saturation on admission day was significantly lower in group 1 than in group 2 (92% vs. 98%, p<0.001) and 42 patients (63.6%) in group 1 had hypoxia (oxygen saturation <= 92%). The frequency of lymphopenia was significantly higher in group 1 than in group 2 (n=59 vs. 11, p<0.001). Some patients in group 1 received systemic corticosteroid therapy, intravenous immunoglobulin infusion and oxygen supplement (n=28, n=16, n=48, respectively). The frequency of systemic corticosteroid therapy and oxygen supplement was higher in group 1 than in group 2 (p<0.001 for each). CONCLUSION: H1N1 influenza infection complicated by pneumonia can cause severe illness in previously healthy children more than 6 years old and in children with uncontrolled allergic disease. Multi-center studies are needed to evaluate the clinical and epidemiologic characteristics of pediatric patients with 2009 H1N1 influenza.

Successful Treatment of Pure Red Cell Aplasia with Plasmapheresis in a Patient with Systemic Lupus Erythematosus

Pure red cell aplasia (PRCA) is a rare cause of anemia associated with systemic lupus erythematosus (SLE), and fewer than 20 cases have been reported. The development of PRCA may be mediated by an autoimmune mechanism which is supported by the presence of antibodies that impair various stages and mechanisms of erythropoiesis, by the association with immunological disorders or lymphoma, and by a favorable response to immunosuppressive drugs, antilymphocyte globulin, thymectomy, and splenectomy. However, these therapies have not been successful in all patients with PRCA. We report our experience with a 31-year-old female patient with SLE who developed PRCA that did not respond to immunosuppressive therapies. However, complete normalization of erythropoiesis was achieved after the removal of the autoantibodies by plasmapheresis, and the patient has now maintained a normal hemoglobin level for more than eight months. We suggest that plasmapheresis might be tried in the treatment of PRCA cases before other more aggressive therapies are commenced.

A Case of Bronchogenic Squamous Cell Carcinoma in Patient with Swyer-James Syndrome / 결핵

No abstract available.

Effect of target cell nitric oxide synthesis on the sensitivity to lymphokine-activated killer cell cytotoxicity

BACKGROUND: Nitric oxide (NO), a cytotoxic molecule is produced in various tissues including tumor cells during interleukin-2 (IL-2) therapy . Lymphokine-activated killer (LAK) cells are induced during IL-2 therapy, and have cytotoxic activity against tumor cells. The current study investigated the effects of NO synthesized in target cells or exposure of target cells to NO on the sensitivity of target cells to LAK cell cytotoxicity. METHODS: Cytotoxicity was measured using 4 h chromium release assays. LAK cells which were induced by a 4 day incubation of BALB/c mouse splenocytes with IL-2 (6,000 IU/mL) were employed as effector cells. RD-995 skin tumor cells originated from a C3H/HeN mouse were employed as target cells. NO synthesis in target cells was induced by a 24 h incubation of RD-995 cells with IFN gamma (25 U/mL), TNF (50 U/mL) and IL-1 (20 U/mL). S-nitrosyl acetylpenicillamine (SNAP), an NO donor, was used to expose target cells to NO. N(G) -monomethyl-L-arginine (MLA) and carboxy-PTIO were added during cytotoxicity assays to inhibit NO synthesis, and to scavenge NO produced by target cells, respectively. RESULTS: Sensitivity of NO-producing RD-995 cells to LAK cell cytotoxicity was decreased by addition of MLA and carboxy-PTIO during cytotoxicity assays. However, the two reagents had no effect on the sensitivity of non-NO-producing RD-995 cells. Pretreatment of RD-995 target cells with SNAP increased the sensitivity in comparison with untreated cells. CONCLUSIONS: Sensitivity of target cells to LAK cell cytotoxicity is increased by target cell NO synthesis or exposure to NO. Further studies are needed to evaluate whether these in vitro results have relevance to in vivo phenomena.

A case of juvenile rheumatoid arthritis with myelodysplastic features / 대한내과학회지

Juvenile rheumatoid arthritis (JRA), an autoimmune disease, was characterized by chronic synovitis and associated with various extra-articular manifestations. Abnormal hematologic findings have been reported in all form of JRA, especially anemia due to chronic disease or iron deficiency. Dysplastic changes were rarely noted in the peripheral blood and bone marrow. We experienced a 15-year-old female patient with pauciarticular JRA who have pancytopenia in peripheral blood and a number of dysplastic changes in bone marrow, and present the case here with brief review of literatures.