Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations

PURPOSE: We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. METHODS: We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental and growth retardation were included. RESULTS: The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations(78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. CONCLUSION: It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

Relationship between Brain MRI and Neurodevelopmental Outcome in Term Infants with Severe Hypoxic Ischemic Encephalopathy

PURPOSE: We analyzed the relationship between MRI patterns and neurologic outcome and explored the effectiveness of MRI as a tool for predicting the outcome. METHODS: We analyzed 23 full term infants with severe HIE retrospectively who were admitted to our NICU from Sep. 1993 to May 1998. Their MRI findings were classified into 4 patterns : type I : deep gray matter injury; type II : cortical, subcortical white matter injury; type III : localized periventricular white matter injury; and type IV : mixed injury. Neurodevelopmental outcome was assessed at a mean age of 30.7 months and the patients were grouped in two - neurodevelopmentally normal(8 cases) and delayed(15 cases, including 4 deaths). RESULTS: All type I patients(n=3) showed severe neurodevelopmental delay. Of seven type II patients, three developed normally(42.9%) and four showed developmental delay(57.1%). All type III patients(n=4) developed normally(P=0.008). Of nine type IV patients, one(11.1%) developed normally and eight(88.9%) showed severe developmental delay. There were twelve patients with lesions including thalamus and basal ganglia injury in MRI(type I+IV) and most of them(n=11, 91.7%) were severely developmentally delayed(P=0.002). Acute total asphyxic insult was documented in 9 of the 23 infants, 8 of 9(88.9%) had patterns of lesions including thalamus and basal ganglia injury. The neurologic outcome was poor for all except one of these patients. CONCLUSION: All the patients with periventricular white matter injury in MRI developed normally whereas all except one patient with subcortical gray matter injury showed severe neurodevelopmental delay. The patterns of brain injury shown in the MRIs of term infants with severe HIE provided significant information about the prognosis for the neurodevelopmental outcome of these infants.

Fatal Congenital Cytomegaloviral Pneumonia in a Newborn Infant / 대한주산의학회잡지

No abstract available.

A Case of Laryngeal Ductal Cyst Who has History of Endotracheal Intubation / 소아알레르기및호흡기학회지

Laryngeal cysts can be classified into saccular (24%) or ductal (75%) cysts. In infants who have undergone intubation, ductal cysts are occasionally seen in the subglottic region. These cysts are caused by irritation and obstruction of mucous gland ducts. A 20-month-old infant admitted to our department due to inspiratory stridor, wheezing, and dyspnea. She was born prematurely and had a past history of endotracheal intubation with ventilator of 9 days because of respiratory distress syndrome. At 31 days of age, she was intubated again for 5 days because of pneumonia. She had admitted our hospital repeatedly at 7, 8, 16, and 17 months because of inspiratory stridor, wheezing, cough and dyspnea and she was diagnosed as asthmatic bronchitis. But symptoms developed again, she readmitted. A lateral X-ray film of the neck and neck spiral CT revealed a 6x5 mm sized homogeneous mass in the posterior wall of the subglottic region causing airway obstruction. A laryngoscopy was performed and showed a 4x5 mm sized cystic mass in the subglottic region. Endoscopic resection was done by Nd : Yag laser. The postoperative course was satisfactory. Histologic examination showed a ductal cyst, lined with ciliated cuboidal epithelium. This subglottic ductal cyst was believed to be a late complication of endotracheal intubation.

Study on Platelet Counts and Indices in Neonates

PURPOSE: The platelet number alone does not give a complete picture of platelet maturity and function, therefore, the platelet indices have been the subject of intensive study in recent years, but they have not been firmly established in the neonates. METHODS: Blood samples collected in K2 EDTA bottle from femoral vein of 176 neonates (54 healthy fullterm, 96 sick fullterm, 10 sick preterm, 9 healthy preterm and 7 healthy small for gestational age) were analyzed with CELL-DYN 1600. RESULTS: 1) Platelet counts (PC) and platelet indices of 70 healthy neonates correlated neither with gestational age, nor with birth weight. 2) Significant correlations were found between PC and plateletcrit and between PC and mean platelet volume with the correlation coefficients being 0.937 and -0.284 respectively. Other indices did not show any significant correlation. 3) There were no significant differences of PC and platelet indices between healthy neonates and sick neonates, between healthy fullterm and sick fullterm, between healthy preterm and sick preterm, between healthy fullterm and healthy preterm, and between healthy fullterm and healthy small for gestational age. 4) Sick fullterm neonates suffering certain diseases showed altered indices, compared with healthy fullterm neonates. In diarrhea, PC, plateletcrit and platelet distribution width were higher than those in healthy fullterm neonates. In hyperbilirubinemia and urinary tract infection, PC and plateletcrit were higher, whereas in sepsis, platelet distribution width was lower. CONCLUSIONS: These data indicate that PC and platelet indices of healthy neonates did not correlate with gestational age, nor with birth weight, and show some significant correlations between PC and platelet indicies. Further studies will be needed in clinical application of platelet indices to each neonatal disease.

Relationship between Complications of Mycoplasma Pneumonia and Titers of Cold Agglutinin and Mycoplasma Antibody in Children

PURPOSE: To assess the relationship between the complications of mycoplasma pneumonia and titers of cold agglutinin and mycoplasma antibody in children. METHODS: 120 cases of mycoplasmal pneumonia in children who were admitted to the Pediatric Department of Kwangju Christian Hospital between June 1993 and May 1994 were analyzed. RESULTS: 1) The peak incidence of age was between 2 and 6 years, and the sex ratio of boy to girl was 1 : 1.1. 2) Chest X-ray examinations revealed that the most common type of pneumonia was bronchopneumonia(51 cases, 42.5%); unilateral involvement was common(60.8%); and the lower lobe was the most commonly involved(50 cases, 41.6%). 3) Pulmonary complications were sinusitis in 43 cases(35.8%), followed by atelectasis in 24, pleural effusion in 18, asthma in 15, pharyngitis in 9, laryngitis in 4 and Swyer- James syndrome in 1 case. 4) Extrapulmonary complications were hepatitis in 12 cases, proteinuria in 7, hematuria in 5, convulsion in 3, psychosis in 3 and nephrotic syndrome, encephalitis and disseminated intravascular coagulation in 1 each. 5) No significant relationships were found between the duration of pneumonia and cold agglutinin titer, and between the duration of pneumonia and mycoplasma antibody titer(p>0.05). 6) The occurrence rate of the complications was not related to cold agglutinin titer(r=0.291); but it was significantly related to mycoplasma antibody titer(r=0.764), i.e., the higher the mycoplasma antibody titer, the higher incidence of complications. CONCLUSIONS: The occurrence rate of complications of mycoplasma pneumonia was not related to cold agglutinin titer, but it was significantly correlated with mycoplasma antibody titer.