Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene ($stat3$) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant $Staphylococcus$$aureus$) and $Pseudomonas$$aeruginosa$. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count ($750/{\mu}L$) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis.
Park, Su-Jin;Yun, Ki-Tae;Kim, Won-Duck;Lee, Sang-Geel
Clinical and Experimental Pediatrics
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v.53
no.4
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pp.503-509
/
2010
Purpose : Although neonatal pulmonary hemorrhage is rare, it is associated with high mortality. We aimed to evaluate the risk factors associated with pulmonary hemorrhage in preterm infants and to describe the clinical course, including neonatal morbidity, of infants who developed pulmonary hemorrhage. Methods : We performed a retrospective case-control study of 117 newborn infants aged less than 37 gestational weeks admitted to the neonatal intensive care unit of Daegu Fatima Hospital between January 1995 and December 2008. Control group infants without pulmonary hemorrhage were matched according to the gestational age, duration of mechanical ventilation, and birth weight range (${\leq}100g$). Pulmonary hemorrhage was defined as the presence of hemorrhagic fluid in the trachea and severe respiratory decompensation. Results : Pulmonary hemorrhage occurred in 17 cases of very low birth weight infants (VLBW; birth weight < 1,500 g; median age, 3 days) and 22 cases of low birth weight infants (LBW; $1,500g{\leq}$ birth weight < 2,500 g; median age, 1 day). Antenatal maternal glucocorticoid treatment significantly reduced the incidence of pulmonary hemorrhage in VLBW infants. Low APGAR score (${\leq}3$ at 1 min) and acidosis at birth were associated with significantly high incidence of pulmonary hemorrhage in LBW infants. Conclusion : Antecedent factors and timing of pulmonary hemorrhage of LBW infants were different from those of VLBW infants. The mortality rates of VLBW and LBW infants were 88.2% and 45.5%, respectively. Pulmonary hemorrhage was the principal cause of death in 66.6% VLBW infants and 40.0% LBW infants.
Purpose : Sepsis is a significant cause of morbidity and mortality in the newborn, particularly in preterm. The objective of this study was to analyze the incidence rate, causative pathogens and clinical features of neonatal sepsis in one neonatal intensive care unit (NICU) for 6 years. Methods : This study was retrospectively performed to review the clinical and laboratory characteristics including sex, gestational age, birth weight, Apgar score, length of hospitalization, length of total parenteral nutrition, presence of central venous catheter, underlying diseases, laboratory findings, microorganisms isolated from blood culture, complications and mortality in 175 patients between January 2003 and December 2008. Results : 1) Sepsis was present in 175 of 3,747 infants for 6 years. There were more gram-positive organisms. 2) The gram-negatives were more prevalent in preterm. There were no significant differences of other clinical features between two groups. 3) Underlying diseases were found in 73.7%, and the most common disease was cardiovascular disease. The most common organisms of gram-positives and gram-negatives were methicillin resistant Staphylococcus aureus (MRSA) and Serratia marcescens. 4) There was statistically significant difference on platelet counts between two groups (P<0.05). 5) Complications were found in 18.3% and septic shock was the most common. MRSA was the most common pathogen in sepsis with complication. 6) The mortality rate was 7.4%. 7) There were differences in monthly blood stream infection/1,000 patient-days. Conclusion : The studies about the factors that can influence neonatal sepsis will contribute to decrease the infection rates in NICUs.
Lee, Ji Joung;Lee, Min A;Rhee, Yun ee;Chang, Mea Young;Kil, Hong Ryang
Clinical and Experimental Pediatrics
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v.50
no.3
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pp.268-271
/
2007
Purpose : Premature narrowing of the foramen ovale is rare but serious clinical entity. Prenatal narrowing or obstruction of the foramen ovale shows symptoms such as right heart failure, fetal hydrops, triscupid regurgitation, left heart obstructive disease, and supraventricular tachycardia. This study aimed to assess the prenatal diagnosis and postnatal clinical course of restrictive foramen ovale in utero in otherwise normal heart. Methods : The subjects were five patients diagnosed with restrictive foramen ovale in utero from January 2001 to June 2005 at Chungnam National University Hospital. The diagnostic criteria was defined when the maximum diameter in a 4-chamber view is less than 2.5 mm and there is a continuous doppler velocity at the foramen ovale of more than 0.6m/s. Results : At the time of diagnosis of restrictive foramen ovale, gestation age was 34~37 wks, and chief complaints were fetal arrhythmia(2 cases), pericardial effusion, Ebstein anomaly and subaortic stenosis. Two cases which were diagnosed fetal hydrops and supraventricular tachycardia delivered by emergent cesarian section. Five cases were found to have right heart dilatation on echocardiogram after birth, but right heart dilatation became normalized at day 7 after birth and the clinical courses were not eventful. Conclusion : Identifying an obstructed foramen ovale in the fetus warrants the further search for additional cardiac and extracardiac anomalies, which may alter the prognosis. Delivery should be induced if possible in cases of foramen ovale obstruction with signs of cardiac decompensation.
Park, Jee Yoon;Kim, Ji Young;Cho, Soo Jin;Kim, Young Ju;Park, Hye Sook;Ha, Eun Hee;Park, Eun Ae
Clinical and Experimental Pediatrics
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v.50
no.3
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pp.248-254
/
2007
Purpose : Inflammation plays a major role in the pathogenesis of RDS and BPD in the immature lung. We investigated the possible role of IL-10 and IL-12 in the cord blood of preterm newborns with RDS or BPD. Methods : Forty preterm newborns whose mothers received antenatal care at Ewha Womans University Mokdong Hospital between January 2003 to June 2005, and agreed to testing their cord blood samples were enrolled. The gestational ages were below 34 weeks. Cord blood level of IL-10 and IL-12 were determined by ELISA. We separated the patients into 2 groups (RDS group and non-RDS group, BPD group and non-BPD group) and compared the cytokine levels and clinical records of the groups. Results : Cord blood IL-10 level showed a significant inverse correlation with gestational age and birth weight (P=0.001, P=0.005). Preterm infants with RDS showed higher IL-10 level (1.0 vs 0.1 pg/mL; P=0.001) in the cord blood than those without RDS. The differences remained statistically significant after correction for the effect of gestational age between both preterm groups. Despite similar cord blood IL-10 levels, preterm infants with BPD showed no significant difference with those without BPD. Conclusion : Cord blood IL-10 levels are increased in preterm infants which may be due to the immuno-suppression occurring during pregnancy and to fetal immaturity because these levels are inversely correlated with the gestational age. So, Cord blood IL-10 level can be used as the predictor of RDS.
Purpose : We tried to assess the optimal conditions to improve low transduction efficiency and their effect on target cells. Methods : Cultured NIH 3T3 cells were incubated with retroviral vectors bearing an enhanced green fluorescent protein (eGFP) gene. We varied the ratio of viral vectors to target cells (1:1-1:8) and the number of transfections (${\times}1$, ${\times}2$), and compared transduction efficiencies. Also, the effects of polybrene on transduction efficiency and viability of target cells were assessed. Transduction of the eGFP gene was evaluated by observing NIH 3T3 cells under a fluorescence microscope and efficiencies were measured by the percentage of eGFP positive cells using FACscan. Results : As the ratio of retroviral vectors to target cells increased, transduction efficiency was greatly improved, from 7% (1:1) to 38% (1:4). However, transduction efficiency did not increase any more when the ratio increased from 1:4 to 1:8. Cells transfected twice showed higher transduction efficiencies than cells transfected once, at a ratio of 1:8. The eGFP gene transduced to NIH 3T3 cells sustained its expression during repeated passages. However, after the third passage (day 9), the percentage of eGFP positive cells began to decline. The degree of this decline in eGFP expression was lower in cells transfected twice than in cells transfected once (P<0.05). The addition of polybrene did not have any toxic effect on NIH 3T3 cells and greatly increased transduction efficiency (P=0.007). In addition to vector component, transduction efficiency was very sensitive to culture confluence. Cells cultured and transfected in 24-well plate showed higher transduction efficiency, although cells cultured in 6- well plate proliferated more (P=0.024). Conclusion : Our data could be used as a basis for retrovirus-based gene therapy. Further study will follow using human cells as target cells.
Kim, Ji Young;Yang, Seung Ho;Cha, Sun Hwa;Kim, Ji Yeun;Jang, Young Chae;Park, Kwan Kyu;Kim, Jin Kyung;Chung, Hai Lee;Seo, Eok Su;Kim, Woo Taek
Clinical and Experimental Pediatrics
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v.50
no.7
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pp.686-693
/
2007
Purpose : Mycophenolic acid (MPA), the active metabolite of mycophenolate mofetil (MMF), is a potent inhibitor of inosine-monophosphate dehydrogenase (IMPDH), a new immunosuppressive drug used. It was reported that MPA protected neurons after excitotoxic injury, induced apoptosis in microglial cells. However, the effects of MPA on hypoxic-ischemic (HI) brain injury has not been yet evaluated. Therefore, we examined whether MPA could be neuroprotective in perinatal HI brain injury using Rice-Vannucci model (in vivo) and in rat brain cortical cell culture induced by hypoxia (in vitro). Methods : Cortical cells were cultured using a 18-day-pregnant Sprague-Dawley (SD) rats and incubated in 1% $O_2$ incubator for hypoxia. MPA ($10{\mu}g/mL$) before or after a HI insult was treated. Seven-day-old SD rat pups were subjected to left carotid occlusion followed by 2 hours of hypoxic exposure (8% $O_2$). MPA (10 mg/kg) before or after a HI insult were administrated intraperitoneally. Apoptosis was measured using western blot and real-time PCR for Bcl-2, Bax, caspase-3. Results : H&E stain revealed increased brain volume in the MPA-treated group in vivo animal model of neonatal HI brain injury. Western blot and real-time PCR showed the expression of caspase-3 and Bax/Bcl-2 were decreased in the MPA-treated group In in vitro and in vivo model of perinatal HI brain injury, Conclusion : These results may suggest that the administration of MPA before HI insult could significantly protect against perinatal HI brain injury via anti-apoptotic mechanisms, which offers the possibility of MPA application for the treatment of neonatal HI encephalopathy.
Purpose : Sepsis is a common complication in Neonatal Intensive Care Units (NICU), seen especially in low birth weight (LBW) infants. A recent study showed that fungal or gram-negative sepsis is associated with a greater degree of thrombocytopenia than is seen with gram-positive sepsis. So, this study was undertaken to examine the platelet counts and platelet indices in LBW infants during episodes of sepsis. Methods : We analyzed 36 cases with culture-proven sepsis on chart review in LBW infants admitted to the NICU at Wonkwang University Hospital from January 2001 to June 2006. Results : Patients were grouped by organism type: gram-positive bacteria ($1,521{\pm}309g$, $31.3{\pm}2.9wk$, 15/36), gram-negative bacteria ($1,467{\pm}290g,\;30.6{\pm}3.6wk$, 17/36), and fungi ($1,287{\pm}205g,\;30.0{\pm}3.9wk$, 4/36). The most common organism was Staphylococcus epidermis and the incidence of thrombocytopenia was 88.9%. When compared with infants with gram-positive sepsis, those with gram-negative sepsis had significantly higher incidences of thrombocytopenia, lower initial platelet count, lower platelet nadir, and greater mean percentage decrease in platelet count from before the onset of sepsis. Those with fungal infections were similar to gram-negative sepsis, but they were not significant because of the small number of patients. And mean platelet volume (MPV) in sepsis was increased more significantly in time of platelet nadir than before the onset of sepsis. Conclusion : We conclude that decrease in platelet count was significantly greater in gram-negative sepsis than gram-positive sepsis, and also greater than fungal sepsis-which was insignificant because of the small number of patients-in LBW infants. And elevation in MPV will be helpful in the diagnosis and treatment of sepsis in LBW infants.
Purpose : The development of the corpus callosum occupies the entire period of cerebral formation. The myelination pattern on magnetic resonance imaging (MRI) is very useful to evaluate neurologic development and to predict neurologic outcome in high risk infants. The thickness of the corpus callosum is believed to depend on the myelination process. It is possible to calculate the length and thickness of the corpus callosum on MRI. Thus, we can quantitatively evaluate the development of the corpus callosum. We investigated the clinical significance of measuring various portions of the corpus callosum in neonate with neurologic disorders such as hypoxic brain damage and seizure disorder. Methods : Forty-two neonates were evaluated by brain MRI. We measured the size of the genu, body, transitional zone, splenium, and length of the corpus callosum. Each measurement was divided by the total length of the corpus callosum to obtain its corrected size. The ratio of corpus callosal length and the anteroposterior diameter of the brain was also measured. Results : There was no statistical significance in the sample size of each part of the corpus callosum. However, the corrected size or the ratio of body of the corpus callosum correlated with periventricular leukomalacia and hypoxic ischemic encephalopathy. Conclusion : The abnormal size of the corpus callosum showed a good correlation with periventricular leukomalacia and hypoxic ischemic encephalopathy in neonates. We can predict clinical neurological problems by estimation of the corpus callosum in the neonatal period.
Yoon, Yong Ho;Kim, Kyung Ah;Ko, Sun Young;Lee, Yeon Kyung;Shin, Son Moon
Clinical and Experimental Pediatrics
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v.50
no.10
/
pp.959-964
/
2007
Purpose : The purpose was to investigate the clinical considerations of patients affected by meconium aspiration syndrome (MAS) and the effect of suctioning through endotracheal intubation immediately after delivery on the prognosis of MAS. Methods : A total of 44 inpatients diagnosed as MAS in the Neonatal Intensive Care Unit (NICU) at Cheil Hospital were selected from January 2004 to June 2006. They were divided into two groups. In the early aspiration group (12 patients), suctioning through endotracheal intubation was performed according to the neonatal resuscitation program of the American Academy of Pediatrics and the American Heart Association because infants born through meconium-stained amniotic fluid (MSAF) were not vigorous after birth. In the early non-aspiration group (32 patients), endotracheal intubation was not performed because the infants born through MSAF were vigorous after birth. These two groups were analyzed retrospectively by medical records in the fields of clinical features, obstetric risk factors, complications, treatment, and duration of hospitalization. Results : There was no significant difference in mean gestational age, mean birth weight, sex, and delivery mode between the early aspiration group and the early non-aspiration group. Mean Apgar score of the early aspiration group both in 1 and 5 minute score was significantly lower than in the early non-aspiration group. Lengths of hospitalization and duration of mechanical ventilator care were longer in the early non-aspiration group, but there was no significant difference. Total duration of oxygen therapy was significantly longer in the early non-aspiration group than in the early aspiration group. Conclusion : In this study, the early non-aspiration group used surfactant more and had a longer duration of mechanical ventilator and hospitalization, but there was no significant difference. Total duration of oxygen therapy was significantly longer in the early non-aspiration group. Therefore, more detailed guidelines for vigorous infants born through MSAF are needed and we should study and follow up the long term prognosis of neurological complications of MAS.
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