Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

Toll-like receptor 9 expression and interferon-alpha secretion upon CpG-ODN stimulation in allergic subjects / 소아과

PURPOSE: The aim of this study is to explore the effect of the Toll-like receptor 9 (TLR9) expressed in plasmacytoid dendritic cells (pDCs) that respond to antigen to Th2 immune deviation in allergic patients. METHODS: Subjects consisted of 19 allergic patients and 17 healthy volunteers. Skin prick tests and nasal provocation tests were performed for the two groups. Peripheral blood mononuclear cells (PBMCs) were collected from subjects and analyzed for the Lineage Cocktail (CD3, CD14, CD16, CD19, CD20, CD56) (-), HLA-DR (+), and CD123 (+) using flow cytometry. In addition, we analyzed TLR9 mRNA by reverse transcriptase-polymerase chain reaction. The level of interferon-alpha (IFN-alpha) of the PBMCs following stimulation with the TLR9 ligand CpG-ODN 2216 was also evaluated. RESULTS: Analyses of CD123 (+) revealed a nearly similar distribution for the classical pDC markers in the allergic group (0.1%+/-0.04%) and in the controls (0.25%+/-0.23%). The mRNA levels of TLR9 on PBMCs were not different between the allergic group and the controls (1.29+/-0.41 vs. 1.25+/-0.23, respectively). Additionally, the level of IFN-alpha in PBMCs exposed to stimuli of the TLR9 ligand CpG-ODN 2216 was not significantly different between the two groups (911+/-829 vs. 1,095+/-888 pg/mL, respectively). CONCLUSIONS: We found no evidence that TLR9-dependent immune responses in human pDCs are associated with allergic status.

Toll-like receptor 9 expression and interferon-alpha secretion upon CpG-ODN stimulation in allergic subjects / 소아과

PURPOSE: The aim of this study is to explore the effect of the Toll-like receptor 9 (TLR9) expressed in plasmacytoid dendritic cells (pDCs) that respond to antigen to Th2 immune deviation in allergic patients. METHODS: Subjects consisted of 19 allergic patients and 17 healthy volunteers. Skin prick tests and nasal provocation tests were performed for the two groups. Peripheral blood mononuclear cells (PBMCs) were collected from subjects and analyzed for the Lineage Cocktail (CD3, CD14, CD16, CD19, CD20, CD56) (-), HLA-DR (+), and CD123 (+) using flow cytometry. In addition, we analyzed TLR9 mRNA by reverse transcriptase-polymerase chain reaction. The level of interferon-alpha (IFN-alpha) of the PBMCs following stimulation with the TLR9 ligand CpG-ODN 2216 was also evaluated. RESULTS: Analyses of CD123 (+) revealed a nearly similar distribution for the classical pDC markers in the allergic group (0.1%+/-0.04%) and in the controls (0.25%+/-0.23%). The mRNA levels of TLR9 on PBMCs were not different between the allergic group and the controls (1.29+/-0.41 vs. 1.25+/-0.23, respectively). Additionally, the level of IFN-alpha in PBMCs exposed to stimuli of the TLR9 ligand CpG-ODN 2216 was not significantly different between the two groups (911+/-829 vs. 1,095+/-888 pg/mL, respectively). CONCLUSIONS: We found no evidence that TLR9-dependent immune responses in human pDCs are associated with allergic status.

A Case of Unilateral Pleural Effusion Due to Percutaneously Inserted Central Venous Catheterization

Percutaneously inserted central venous catheterization (PICC) is commonly used for the management of preterm infants and surgical newborn babies to provide intravenous access for prolonged therapy and parenteral nutrition. Insertion of PICC in neonate has been associated with both immediate and late complications. The immediate complications include catheter malposition, pneumothorax and hemothorax usually secondary to the insertion procedure. Late complications are sepsis, thrombosis, catheter tip migration, vessel perforation, cardiac tamponade, pericardial effusion, pleural effusion and chemical pneumonitis. It is recognized that catheter tip migration can occur at any time with potentially fatal outcome. We report here a newborn infant that successful PICC placement was followed a few days later by the development of a unilateral pleural effusion due to migration of the cathter tip, with a brief review of the literatures.

ADAMTS13 Activity in Childhood Hemolytic Uremic Syndrome(HUS)

PURPOSE: HUS usually occurs in children after infection with shiga toxin-producing microorganism(D+HUS). In contrast, non-postdiarrheal(D-) HUS occurs at any age and has a high rate of relapse and a poor prognosis. The clinical presentation of D-HUS is similar to that of thrombotic thrombocytopenic purpura(TTP). Recently severe deficiencies of ADAMTS13 were reported not only in TTP and D- HUS but also in D+ HUS during their acute phase. The purpose of the study is to evaluate the plasma ADAMTS13 activity in D+ and D-HUS. METHODS: Nineteen children with HUS(D+ HUS 12 and D- HUS 7) were enrolled. The assays of plasma ADAMTS13 activity were performed during the acute stage in the D+ HUS and at various stages of relapsing courses in the D- HUS patients by multimer assay, based on electrophoresis. RESULTS: The median plasma activity of ADAMTS13 in D+ HUS and D- HUS were 80.9%(37.8-132.4%) and 53.9%(1.0-94.1%), respectively, which were not statistically significantly different from control(86.4%, 34.2-112.3%)(P>0.05). One boy with D- HUS had severe deficiency of ADAMTS13(1.0%). His platelet count was normalized temporarily by fresh frozen plasma infusion. CONCLUSION: We have demonstrated that there is no significant difference of the plasma ADAMTS13 activity between D+ HUS, D- HUS and control. We detected severe deficiency of ADAMTS13 in one boy who presented with relapsing episodes of D- HUS. ADAMTS13 deficiency should be considered in the subgroup of D- HUS especially with early onset and recurrent courses. Plasma therapy can be beneficial in this subgroup.

A Case of Thalamic Pain Syndrome after Meningoencephalitis

Thalamic pain syndrome is a type of central pain caused by damage to both thalami and produces persistent and intractable pain; extreme burning or aching sensation by light touch, even without external stimuli. In adults, thalamic pain syndrome occurred in vascular diseases such as a stroke, but in children, it was reported that infectious diseases-upper respiratory infection or meningitis-were usually preceded by development of central pain syndrome. This paper reports on a 12 year old boy with meningoencephalitis followed by evolving to thalamic pain syndrome 10 days later, who suffered from hypersensitivity and severe generalized pain on his whole body. On the brain MRI, both medial temporal lobes showed increased signal intensity, worse on the right side. A combination therapy of intravenous ketamine, amitriptyline and gabapentine for intensive pain control markedly reduced the pain and hypersensitivity in about 1 month. On the following brain SPECT, a strong focal perfusion at the right temporo-parietal cortex area was nearly normalized compared to previous one.

Clinical Consideration of Premature Twins Conceived by in Vitro Fertilization and those of Naturally Conceived / 대한주산의학회잡지

OBJECTIVE: The aim of this study was to evaluate and compare neonatal outcome of premature twins conceived by in vitro fertilization (IVF) to those of naturally conceived. METHODS: We retrospectively analyzed neonatal outcome of sixty pairs of premature twins conceived by IVF (IVF twin group) and 34 pairs that naturally conceived (natural twin group). Maternal and obstetric characteristics were also compared. All were born before 35 weeks of gestation between January 2000 and December 2004 at Pochon-Cha Hospital and admitted to neonatal intensive care unit. Student t-test and chi-square test were used for statistical analysis. RESULTS: For obstetrical characteristics, maternal age and rates of nulliparous were sibnificanty twin group. But, other parameters (preterm labor, premature rupture of membranes, pregnancy-induced hypertension, gestational diabetes mellitus) were similar between two groups. For neonatal outcome, gestational age, duration of hospital stay, Apgar score, neonatal mortality and morbidity were reviewed. All parameters were no significant differences in IVF twin group compare to natural twin group CONCLUSIONS: In our study, IVF twin group had no significant differences in obstetric characteristics (except for maternal age and parity) and neonatal outcome compare to natural twin group.

Association between Hematologic Abnormalities and Severity in Neonate with NEC / 대한주산의학회잡지

OBJECTIVES: The purpose of this study is to evaluate the association between hematologic abnormalities and severity in neonate with NEC. METHODS: A retrospective chart review was established of 69 premature infants with a diagnosis of NEC who had been admitted to Pochon CHA University neonatal intensive care unit between Jan 2001 and Jun 2004. Infants were divided into three groups according to Bell's criteria. The association between perinatal and clinical manifestation, hematologic abnormalities and severity in neonate with NEC was evaluated. RESULTS: Nadir platelet counts, neutropenia, I:T ratio, CRP and base excess were associated with severity of NEC, but coagulation disturbances (DIC) were not significantly correlated with severity of NEC. CONCLUSION: These preliminary results may be helpful to predict the severity and to improve the outcome in neonate with NEC.

The Levels of Zinc and Neuron-specific Enolase in Febrile Convulsion / 소아과

PURPOSE: To determine the role of zinc in febrile convulsion and to evaluate whether febrile convulsion causes neuronal damage, serum and cerebrospinal fluid(CSF), zinc and CSF neuron-specific enolase(NSE) levels were measured in patients with febrile convulsion, epilepsy and aseptic meningitis. METHODS: Three groups were formed as follows: group I:53 children with febrile convulsion; group II:34 children with epilepsy; and group III, 40 children with aseptic meningitis. Serum and CSF zinc and CSF NSE levels were measured in each groups. RESULTS: The serum zinc levels of groups I, II and III had a mean of 74.71+/-18.26 microgram/dL, 104.35+/-31.43 microgram/dL and 87.03+/-24.47 microgram/dL, respectively, and the values of group I were significantly lower than those of the other two groups. The CSF zinc levels of groups I, II and III were found to have a mean 27.72+/-17.93 microgram/dL, 44.73+/-26.72 microgram/dL and 54.44+/-28.43 microgram/dL, respectively. In group I, the CSF zinc levels were significantly lower than those of other two groups. The CSF NSE levels of groups I, II and III had a mean of 11.61+/-2.96 ng/mL, 16.51+/-5.46 ng/mL and 14.60+/-3.02 ng/mL respectively and the values of group I were significantly lower than those of others. CONCLUSION: We confirmed that low zinc levels in serum and CSF are participants in the pathogenesis of febrile convulsion, but we could not find out the evidence of neurologic damage in patients with febrile convulsion using NSE levels in CSF.

Correlation of Coagulation Disorder and Bronchopulmonary Dysplasia in Preterm Infants / 대한주산의학회잡지

OBJECTIVE: Neonatal respiratory distress syndrome (RDS) occurs in preterm infants, due to structural immaturity of the lungs and immaturity of the pulmonary surfactant metabolism and activation of inflammation and clotting contribute to the development of bronchopulmonary dysplasia (BPD). The purpose of this study is to evaluate the influencing factors in the development of BPD among RDS infants with coagulation disorder. METHODS: A retrospective chart review for 49 premature infants who were admitted to Pochun CHA University neonatal intensive care unit between May 2001 and July 2003. Infants with a gestational age <32 weeks or birth weight <1,500 g who had RDS and coagulation disorder were included in this study. Infants were divided into two groups, 22 infants in the BPD group and 27 infants in the Control group. And we evaluated the perinatal, clinical and bleeding manifestations and laboratory finding of 1st, 3rd, 6th days after coagulation disorder occurred. RESULT: The incidence of pregnancy induced hypertension was higher in the control group. Birth weight and gestational age were lower in the BPD group. Duration of ventilatory support and total parenteral nutrition were longer and the incidence of sepsis was higher in the BPD group. No significant difference was observed in laboratory finding when coagulation disorder occurred. CONCLUSION: Laboratory finding of premature when coagulation disorder occurred, was not associated with the prevalence of BPD, The compound effects of other risk factors may be important in the development of BPD.

Comparison of the Characteristics of 16 Commercial Nebulizer/Compressor Combinations Used in Korea

PURPOSE: We assessed the dynamic characteristics of 16 nebulizer/compressor combinations currently available in Korea. METHODS: The 16 nebulizer/compressor combinations(Pariboy Type 38/Long life, Pariboy Type N/ Long life, Pariboy Type N/Salter 8900, Pariboy Type N/LC, Devilbiss pulmoaid-LT/Hudson, Devilbiss pulmoaid/Hudson, Mesmed neb-300/Own, San-up 3040/Hudson, Midas(Basic)/Own, AirJolie 2/ Hudson, Thomas 1127/Salter 8900, Noel NE-2000/Salter 8900, Omron CX3/Hudson, Chang Woo CWN-100/Salter 8900, Voyage/Mefar, Chang Woo ASI-Pro/Medel jet pulse) were evaluated in terms of particle size and mass output. In addition, we determined the effects of nebulizer fill volume on mass output. RESULTS: Pariboy Type N/Long life has the highest respirable mass of 0.184 mg/min and Mesmed Neb-300/Own has the lowest 0.019 mg/min. Pariboy Type N/Long life has the highest mass output of 0.68 mg/min and the shortest mass median aerodynamic diameter(MMAD) of 3.76 m. All combinations other than Pariboy Type N/Long life produced a MMAD of over 5 m. MMAD over a 5 min nebulization ranged 3.76 to 9.83 m. There were no significant effects of fill volume on mass output. CONCLUSIONS: We concluded that there is a wide variation in performance of nebulizer/compressor combinations. The characteristics of nebulizer/compressor combinations should be considered in selecting products.

Factors Affecting Treatment Response of Disseminated Intravascular Coagulation in Pretem Infants

PURPOSE: Disseminated intravascular coagulation(DIC) occurs most frequently in premature infants. The purpose of this study is to evaluate the influencing factors in treatment of DIC among premature infants. METHODS: A retrospective chart review for 41 premature infants who were admitted to Pochun CHA University neonatal intensive care unit between May 2001 and July 2002 was done. Infants were divided into two groups depending upon their response in improvement of symptoms and laboratory values occurring within or after 72 hours of initiation of therapy. A comparative analysis of various parameter to delineate influencing factors affecting treatment outcome was studied. RESULTS: The factors related to delayed response in treatment of DIC between early response group (19) and late response group (22) included male, low birth weight, severe birth asphyxia, prolongation of prothrombin time, petechiae and oozing of puncture site. CONCLUSION: Awareness of factors associated with delayed response in treatment of DIC may aid in prediction of treatment outcome among premature infants with DIC.

The Allergen Sensitization, Family History, Diet Pattern in Atopic Dermatitis under 2 Years of Age / 소아알레르기및호흡기학회지

PURPOSE: This study is intended to investigate results of skin prick tests, family history, and diet pattern in patients under 2 years of age diagnosed with atopic dermatitis (AD). METHODS: A total of 82 AD patients and 53 controls participated in this study. They visited outpatient department of Pediatrics in Pundang Cha hospital from July 2002 to May 2003. Questionnaire survey about family allergy history, duration of breast feeding, time of first weaning, kinds of foods eaten from birth was performed. Skin prick tests were performed with food allergens that consisted of egg, milk, mixed bean, beef, pork, cod, mixed flour and D. f. as aeroallergen, histamine as positive control, normal saline as negative control. RESULTS: Egg (19.5%), milk (11.0%), D. f. (9.8%), cod (8.5%) were the common allergens in AD patients. Erythema and wheal size was 14.6 mm, 2.7 mm in AD patients and 8.5 mm, 1.6 mm in controls (P< 0.05). There was no significant effect of age on the skin reactivity to histamine. Odd ratio of atopy was 31.6 (95% CI: 4.2-240.3) and that of family history was 2.6 (95% CI: 1.3-5.2). The mean age of the start of weaning was 5.6 months in AD patients and 4.5 months in controls (P< 0.05). There were no significant differences in duration of breast feeding and the number of foods eaten from birth between AD patients and controls. CONCLUSION: Egg, milk, D. f., and cod were the common allergens in AD patients under 2 years of age. This means that it is necessary for AD patients to have proper guide for weaning diet and regulation of environment. Allergy history of parents has high relative risk and therefore the high risk infants require positive prophylactic counterplans for AD.

A Case of Paracentric Inversion of Chromosome 12(q13q22)

Paracentric inversion of chromosome 12 is a rare chromosomal aberration, which has familial inheritance in a few cases. We encountered a 2-year-old girl who presented developmental delay, failure to thrive, patent ductus arteriosus, choanal atresia, laryngomalacia, and mild facial dysmorphism. Chromosome studies from peripheral blood showed a 46, XX, inv(12)(q13q22) karyotype. The inversion was also found in her mother. The authors report the first case of paracentric inversion of chromosome 12 in Korea with a review of literature.

Two Cases of Pierre Robin Syndrome Managed with Tongue-Lip Adhesion and Tracheostomy

Pierre Robin syndrome presents in the neonatal period with upper airway obstruction and feeding difficulties. Infants with pronounced micrognathia may fail to thrive because of chronic airway obstruction, or experience severe respiratory distress and feeding difficulties. This is potentially fatal and surgical intervention in these cases is necessary. We experienced two newborns with pronounced micrognathia who were managed with tongue-lip adhesion and tracheostomy. Herein, we report these two cases with literature reviews.