Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.
Central Nervous System ; Chromosome Aberrations ; Cytogenetic Analysis ; Ear ; Fetal Growth Retardation ; Fingers ; Heart Septal Defects, Ventricular ; Hip ; Incidence ; Intellectual Disability ; Lip ; Mosaicism* ; Nose ; Trisomy* ; Urogenital Abnormalities ; Wrist

PURPOSE: With the development of neonatal intensive care and the increased use of systemic antibiotics, candida sepsis has become one of the most important causes of neonatal morbidity and mortality. The purpose of this study was to investigate the prevalence rate and its associated risk factors. METHODS: We retrospectively reviewed medical records of 28 cases with candida sepsis who were admitted in the neonatal intensive care unit(NICU) of Chonnam University Hospital from July 1995 to June 2001. Twenty-nine patients without candida sepsis were enrolled for the control group to verify the risk factors. RESULTS: The overall incidence of candida sepsis was 0.61% for all NICU admissions and 3.68% for all very low birth weight infants with the gradual increase of the annual prevalance rate over time. The endotracheal intubation, percutaneous central vein catheter(PCVC), umbilical vein catheter, total parenteral nutrition, intralipid and dopamine were more applied than the control group (P<0.01 for all). The durations of mechanical ventilator care, central catheter appliance, nothing per os, and admission were also significantly longer than the control group(P<0.01 for all). Ampicillin/sulbactam, ceftazidime, amikacin, netilmicin, teicoplanin and imipenem/cilastatin were significantly more used than the control group(P<0.05). The durations of ampicillin/sulbactam, ceftazidime, netilmicin and imipenem/cilastatin administration were also proved to be significant as the risk factors(P<0.01). CONCLUSION: The average annual prevalence rate of candida sepsis in NICU for six years was 0.61% with gradual increasing tendency over time. The elimination of the above risk factors is important in decreasing neonatal morbidity and mortality associated with candida sepsis.
Amikacin ; Anti-Bacterial Agents ; Candida* ; Catheters ; Ceftazidime ; Dopamine ; Humans ; Incidence ; Infant ; Infant, Newborn ; Infant, Very Low Birth Weight ; Intensive Care, Neonatal* ; Intubation, Intratracheal ; Jeollanam-do ; Medical Records ; Mortality ; Netilmicin ; Parenteral Nutrition, Total ; Prevalence* ; Retrospective Studies ; Risk Factors* ; Sepsis* ; Teicoplanin ; Umbilical Veins ; Veins ; Ventilators, Mechanical

BACKGROUND: Hemophiliacs are known to have higher risk of exposure of hepatitis virus and immunosuppression. The aim of this study is to investigate the positive rate of viral markers for hepatitis and anti-HIV and the changes of lymphocyte subpopulations in Hemophiliacs in Chonnam GwangJu area. METHODS: One hundred four patients who had visited to the Hemophilic Clinic, Chonnam University Hospital from 1999 to 2001 were enrolled. They were checked for type A, B, C hepatitis viral markers, anti-HIV and lymphocyte subpopulations. The prevalence of hepatitis and lymphocyte subpopulation were compared according to severity and age of hemophiliacs. RESULTS: Anti-HAV IgM, anti-HAV IgG, HBsAg, anti-HBs, anti-HCV were positive in 40%(22/55), 65.5%(66/101), 42.3%(42/97) of cases tested. Positivity of anti-HCV showed trends of increase according to the severity of hemophiliacs (P<0.01) and age(P<0.001). Previous infection of hepatitis B were increased according to age (P=0.01) but not to the severity (P=0.194). Positive rate of anti-HCV and previous infection of hepatitis B were significantly lower in young age group (10 years old) than in older age group (>11 years old) (P=0.003, P<0.001, respectively). Although all enrolled patients were negative for anti-HIV, absolute T and B cells counts were decreased in 71.6% and 14.9% of patients, respectively and inversion of CD4/CD8 ratio were found in 65.7%. But there were no statistical difference in not only decrease of T and B cells but also inversions of CD4/CD8 ratio according to age and severity. CONCLUSION: The number of hemophiliacs with previous history of hepatitis B virus infection and seropositivity of anti-HCV were increased according to the age and severity of hemophilia. Active vaccinations of hepatitis B may be required in hemophiliacs. The greater part of hemophiliacs showed decrease in T cell count and inverted CD4/CD8 ratio. The hemophiliacs need a cautiion for infection and follow up tests for immunologic function.
B-Lymphocytes ; Biomarkers ; Cell Count ; Follow-Up Studies ; Gwangju* ; Hemophilia A ; Hepatitis A Antibodies ; Hepatitis B ; Hepatitis B Surface Antigens ; Hepatitis B virus ; Hepatitis Viruses ; Hepatitis* ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Immunosuppression ; Jeollanam-do* ; Lymphocyte Subsets* ; Lymphocytes* ; Prevalence ; Vaccination

Phlebectasia is an abnormal dilatation of an isolated vein and a rare venous anomaly and is usually asymptomatic. Clinically internal jugular phlebectasia is a self limited benign condition and usually no treatment is required after initial diagnosis. So suspection of this disease and appropriate diagnostic approaches are essential to avoid unnecessary surgical intervention. We present three cases of internal jugular phlebectasia of which diagnosis was made by neck sonography and CT.
Diagnosis ; Dilatation ; Neck ; Veins

PURPOSE: Recent studies have demonstrated that probiotics are effective in the management of allergic diseases, but there have been few reports about their preventive effects in asthma. We examined the effects of Lactobacillus acidophilus (LA) and its mechanism in the primary prevention of asthma. METHODS: Before allergen sensitization, newborn Balb/c mice orally received 1x10(9) colony forming unit (CFU) LA per day every 2 days for consecutive 4 weeks starting from birth. After ovalbumin sensitization and challenge from day 36, airway hyperresponsiveness (AHR) to methacholine, influx of inflammatory cells to the lung, serum total IgE levels, cytokine levels in the supernatant of splenocytes culture, and expression of FoxP3 mRNA in the peribronchial lymph nodes were assessed. RESULTS: The AHR showed a tendency to decrease in LA group, however, there was no statistical significance. The eosinophil counts in bronchoalveolar lavage fluid and serum total IgE were significantly reduced in LA group compared with asthma control group. LA effectively induced IFN-gamma secretion and inhibited IL-4, IL-5 and TGF-beta1 secretion compared with asthma control group. The expression of FoxP3 mRNA in peribronchial lymph nodes did not show any difference between LA and asthma control group. CONCLUSION: Oral LA administration in murine model of asthma attenuated AHR and significantly suppressed eosinophilic inflammation in the airway. These effects of LA were mediated by suppressing Th2 immune response and enhancing Th1 immune response. The results may suggest the possible role of LA in the primary prevention of asthma.
Animals ; Asthma ; Bronchoalveolar Lavage Fluid ; Eosinophils ; Humans ; Immunoglobulin E ; Infant, Newborn ; Inflammation ; Interleukin-4 ; Interleukin-5 ; Lactobacillus ; Lactobacillus acidophilus ; Lung ; Lymph Nodes ; Methacholine Chloride ; Mice ; Ovalbumin ; Parturition ; Primary Prevention ; Probiotics ; RNA, Messenger ; Stem Cells ; Transforming Growth Factor beta1

PURPOSE: Twins have a higher mortality and morbidity than singletons. Co-twin with one fetal death is particularly at risk. We investigated the neonatal outcome of live co-twins when one fetus had died after the 20th gestational week, and associated risk factors. METHODS: A retrospective study was performed in fifteen cases of twin pregnancy with single intrauterine fetal deaths after the 20th gestational week during the period from January 1996 to December 2000 at Chonnam University Hospital. RESULTS: Gestational age was 33.7+/-3.2 weeks, birth weight was 1,992+/-592 g. Interval between one fetal death being detected and the delivery of a live co-twin was 32.4+/-29.5 days. There were 11 cases(73.3%) of premature babies less than 37 gestational weeks. Main causes of preterm delivery were preterm labor and premature rupture of membranes. Hematologic findings suggesting disseminated intravascular coagulopathy(DIC) were not found in all mothers before delivery, and was not associated with DIC and encephalomalacia of the live co-twin. Perinatal outcome of fifteen live co-twins was as follows : six were normal(40%), three were DIC(20.0%), three were encephalomalacia(20.0%), one suffered intrauterine growth retardation, there was one case of twin to twin transfusion syndrome, and one of congenital heart disease(atrial septal defect with pulmonary stenosis). The occurrence of DIC and encephalomalacia in live co-twins was not related to placental chorionicity, birth weight, gestational week, and the interval between the detection one fetal death and the delivery of a live co-twin. CONCLUSIONS: We could not find any maternal hematologic problems in twin pregnancies complicated by one fetal death. Twenty percent of live co-twins showed DIC and encephalomalacia. However, its associated risk factors were not found. We need to investigate more closely the cases of live co-twins with one intrauterine fetal death.
Birth Weight ; Chorion ; Dacarbazine ; Encephalomalacia ; Female ; Fetal Death* ; Fetal Growth Retardation ; Fetofetal Transfusion ; Fetus ; Gestational Age ; Heart ; Humans ; Jeollanam-do ; Membranes ; Mortality ; Mothers* ; Obstetric Labor, Premature ; Pregnancy ; Pregnancy, Twin* ; Retrospective Studies ; Risk Factors ; Rupture

PURPOSE: We examined whether fractional exhaled nitric oxide (FeNO) levels are associated with atopy profiles in terms of mono-sensitization and poly-sensitization in asthmatic children. METHODS: A total of 119 children underwent an assessment that included FeNO measurements, spirometry, methacholine challenge, and measurement of blood eosinophil count, serum total IgE, and serum eosinophil cationic protein (ECP). We also examined sensitization to five classes of aeroallergens (house dust mites, animal danders, pollens, molds, and cockroach) using skin prick testing. The children were divided into three groups according to their sensitization profiles to these aeroallergens (non-sensitized, mono-sensitized, and poly-sensitized). RESULTS: The geometric means (range of 1 SD) of FeNO were significantly different between the three groups (non-sensitized, 18.6 ppb [10.0-34.7 ppb]; mono-sensitized, 28.8 ppb [16.6-50.1 ppb]; and poly-sensitized, 44.7 ppb [24.5-81.3 ppb], P=0.001). FeNO levels were correlated with serum total IgE concentrations, peripheral blood eosinophilia, and serum ECP levels to different degrees. CONCLUSIONS: FeNO levels vary according to the profile of atopy, as determined by positive skin prick test results to various classes of aeroallergens. FeNO is also moderately correlated with serum total IgE, blood eosinophilia, and serum ECP. These results suggest that poly-sensitized asthmatic children may have the highest risk of airway inflammation.
Animals ; Asthma ; Child ; Dust ; Eosinophil Cationic Protein ; Eosinophilia ; Eosinophils ; Fungi ; Humans ; Immunoglobulin E ; Inflammation ; Methacholine Chloride ; Mites ; Nitric Oxide ; Pollen ; Skin ; Spirometry

We report on 2 siblings with a partial trisomy of 7q (7q22-->qter) and concomitant partial monosomy of 8p (8p23.3-->pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar multiple congenital anomalies and dysmorphic features. During the follow-up, the first male patient died in the neonatal period, but the female sibling is still alive at 2 years and 6 months of age.
Abnormal Karyotype ; Chromosome Deletion ; Female ; Follow-Up Studies ; Humans ; Male ; Phenotype ; Siblings ; Telomere ; Trisomy

Facial palsy as the presenting symptom of leukemia is very rare, especially in acute myeloid leukemia. A review of the medical literature identified reports on 8 children with AML who had facial paralysis as the presenting sign. Whole brain irradiation (WBI) has been applied in most cases. We present the cases of 3 such children. Achieving a remission without WBI, the patients underwent stem cell transplantations (SCTs). Two patients remain event-free 52 months and 62 months after allotransplants. Facial palsy was the harbinger of leukemic relapse in one case after autotransplant. This patient is disease-free 59 months after unrelated SCT rescue. Facial palsy persisted in 2 cases. Allogeneic SCT without WBI may be an effective therapy in patients presenting with facial palsy. A brief review of the literature is presented here.
Brain ; Child ; Facial Paralysis ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Recurrence ; Stem Cell Transplantation ; Stem Cells

PURPOSE: Viral infection is known as one of the dominant risk factors for wheezing in children hospitalized before 2 years of age. Although the major viral pathogen associated with wheezing is respiratory syncytial virus (RSV), the mechanisms of wheezing remain unclear. Vascular endothelial growth factor (VEGF) is a major mediator of angiogenesis and vascular permeability. The aim of this study was to evaluate the relationship between VEGF concentration and wheezing in children with acute RSV bronchiolitis. METHODS: Ninety-four children with acute bronchiolitis who were admitted to Korea University Anam Hospital were enrolled in this study. Based on the proven viral agents, children with bronchiolitis were divided into 2 groups: those who were infected with RSV (RSV (+) group, n=51) and those who were not (RSV (-) group, n=43). A complete history taking, physical examination and routine laboratory tests were performed on all children. VEGF levels in serum and nasopharyngeal aspirates (NPA) were determined by ELISA. RESULTS: NPA VEGF levels were significantly higher in the RSV (+) group than in the RSV (-) group (331.8+/-197.8 vs. 204.5+/-97.0 pg/mL, P=0.002). The duration of wheezing is significantly longer in the RSV (+) group than in the RSV (-) group (3.8+/-2.7 days vs. 2.4+/-1.8 days, P=0.037). CONCLUSION: The results of this study suggest that children with RSV bronchiolitis may have significantly higher NPA VEGF levels than those without, which may be associated with a longer duration of wheezing in those with RSV bronchiolitis.
Bronchiolitis ; Capillary Permeability ; Child ; Enzyme-Linked Immunosorbent Assay ; Humans ; Korea ; Physical Examination ; Respiratory Sounds ; Respiratory Syncytial Viruses ; Risk Factors ; Vascular Endothelial Growth Factor A ; Vascular Endothelial Growth Factors