Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18–4.41; p = 0.0027–0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89–37.3; p = 0.0058–0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

IgA Levels Are Associated with Coronary Artery Lesions in Kawasaki Disease

Background and Objectives@#Kawasaki disease (KD) is an acute systemic vasculitis that affects the coronary arteries. Abnormal immune reactions are thought to contribute to disease pathogenesis. The effect of immunoglobulin (Ig) isotype (IgG, IgA, IgM, and IgE) on inflammatory data and clinical outcomes of patients with KD was examined. @*Methods@#Ig levels in 241 patients with KD were measured during the acute, subacute, convalescent, and normal phases of the disease. @*Results@#Compared with reference Ig values, IgG, IgA, and IgM levels were significantly higher in the subacute phase, while IgE levels were elevated in 73.9% (178/241) of patients with KD in all clinical phases. However, high IgE levels were not associated with clinical outcomes, including intravenous immunoglobulin unresponsiveness and coronary artery lesions (CALs).Significantly more CALs were observed in the high IgA group than in the normal IgA group (44.7% vs. 20.8%, respectively; p<0.01). In addition, IgA levels in the acute phase (p=0.038) were 2.2-fold higher, and those in the subacute phase were 1.7-fold higher (p <0.001), in the CAL group than in the non-CAL group. IgA concentrations increased along with the size of the coronary artery aneurysm (p <0.001). Furthermore, there was a strong correlation between IgA levels and CAL size (r=0.435, p<0.001), with a high odds ratio of 2.58 (p=0.022). @*Conclusions@#High IgA levels in patients with KD are prognostic for the risk of CALs.

IgA Levels Are Associated with Coronary Artery Lesions in Kawasaki Disease

Background and Objectives@#Kawasaki disease (KD) is an acute systemic vasculitis that affects the coronary arteries. Abnormal immune reactions are thought to contribute to disease pathogenesis. The effect of immunoglobulin (Ig) isotype (IgG, IgA, IgM, and IgE) on inflammatory data and clinical outcomes of patients with KD was examined. @*Methods@#Ig levels in 241 patients with KD were measured during the acute, subacute, convalescent, and normal phases of the disease. @*Results@#Compared with reference Ig values, IgG, IgA, and IgM levels were significantly higher in the subacute phase, while IgE levels were elevated in 73.9% (178/241) of patients with KD in all clinical phases. However, high IgE levels were not associated with clinical outcomes, including intravenous immunoglobulin unresponsiveness and coronary artery lesions (CALs).Significantly more CALs were observed in the high IgA group than in the normal IgA group (44.7% vs. 20.8%, respectively; p<0.01). In addition, IgA levels in the acute phase (p=0.038) were 2.2-fold higher, and those in the subacute phase were 1.7-fold higher (p <0.001), in the CAL group than in the non-CAL group. IgA concentrations increased along with the size of the coronary artery aneurysm (p <0.001). Furthermore, there was a strong correlation between IgA levels and CAL size (r=0.435, p<0.001), with a high odds ratio of 2.58 (p=0.022). @*Conclusions@#High IgA levels in patients with KD are prognostic for the risk of CALs.

Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A

BACKGROUND AND OBJECTIVES: Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants. METHODS: We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples. RESULTS: BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵). CONCLUSIONS: KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.

Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A

BACKGROUND AND OBJECTIVES@#Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants.@*METHODS@#We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples.@*RESULTS@#BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵).@*CONCLUSIONS@#KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.

Identification of LEF1 as a Susceptibility Locus for Kawasaki Disease in Patients Younger than 6 Months of Age

Kawasaki disease (KD) is an acute febrile vasculitis predominately affecting infants and children. The dominant incidence age of KD is from 6 months to 5 years of age, and the incidence is unusual in those younger than 6 months and older than 5 years of age. We tried to identify genetic variants specifically associated with KD in patients younger than 6 months or older than 5 years of age. We performed an age-stratified genome-wide association study using the Illumina HumanOmni1-Quad BeadChip data (296 cases vs. 1,000 controls) and a replication study (1,360 cases vs. 3,553 controls) in the Korean population. Among 26 candidate single nucleotide polymorphisms (SNPs) tested in replication study, only a rare nonsynonymous SNP (rs4365796: c.1106C>T, p.Thr369Met) in the lymphoid enhancer binding factor 1 (LEF1) gene was very significantly associated with KD in patients younger than 6 months of age (odds ratio [OR], 3.07; p(combined) = 1.10 × 10⁻⁵), whereas no association of the same SNP was observed in any other age group of KD patients. The same SNP (rs4365796) in the LEF1 gene showed the same direction of risk effect in Japanese KD patients younger than 6 months of age, although the effect was not statistically significant (OR, 1.42; p = 0.397). This result indicates that the LEF1 gene may play an important role as a susceptibility gene specifically affecting KD patients younger than 6 months of age.

Association of SCORAD Index and Aeroallergen Sensitization on Urinary Leukotriene E4 in Children with Atopic Dermatitis / 소아알레르기및호흡기학회지

PURPOSE: Atopic dermatitis (AD) is a genetically determined, chronic relapsing skin disease. The pathogenesis of AD is complex and the course is unpredictable. Atopy is an important risk factor for the development of AD. Cysteinyl leukotrienes (Cys-LTs) were implicated in the pathophysiology of allergic diseases, and are being targeted for their diagnosis and treatments. Early detection of tissue inflammation of target organ is important to enable early prevention and management of allergic diseases. The aim of our study is to evaluate the differences in urinary leukotrienes E4 (LTE4) levels, according to AD symptom score and aeroallergen sensitization in children with AD by using noninvasive techniques. METHODS: We recruited 46 children with AD, using predetermined criteria. Clinical features of AD were evaluated by a physician, using scoring atopic dermatitis (SCORAD) index. Aeroallergen sensitization was measured by using a skin prick test and UniCap. Urine samples were also collected on day of the 1st and 2nd visits, and were analyzed for LTE4 with an enzyme-linked immunoassay kit. RESULTS: SCORAD indeces of children with AD were correlated with urinary LTE4 levels. Total immunoglobulin E (IgE) and eosinophil counts also had significant correlation with urinary LTE4 levels. Especially, aeroallergen sensitization of atopic AD significantly correlated with urinary LTE4 of these patients. CONCLUSION: Urinary LTE4 levels significantly correlated with serum total IgE and number of sensitized aeroallergen in children with AD. Clinical features of AD evaluated with SCORAD index related with urinary LTE4 level. Urinary LTE4 might be a valuable, noninvasive marker for different pathogenesis of AD.

Right Ventricular Outflow Tract Stenting in a Low Birth Weight Infant Born With Tetralogy of Fallot and Prostaglandin E1 Dependency

Surgical skill and strategy for the correction of tetralogy of Fallot (TOF) have improved and resulted in satisfactory outcomes. However, prematurity and low birth weight continue to remain risk factors for poor outcomes. We present a case of a 2,150 g neonate born with TOF, in whom palliation was achieved with right ventricular outflow tract (RVOT) stenting. Seventy-seven days after the procedure, stenosis of RVOT below the stent was identified. At that time his body weight was 4.9 kg and total corrective surgery was deemed feasible. Eight months following surgical repair, the patient remained well without medical intervention. RVOT stenting may be a viable interim procedure while waiting for a low birth weight neonate born with TOF and prostaglandin E1 dependency to reach optimal weight to undergo corrective surgery.

Log-transformed plasma level of brain natriuretic peptide during the acute phase of Kawasaki disease is quantitatively associated with myocardial dysfunction / 소아과

PURPOSE: Brain natriuretic peptide (BNP) has been considered a biochemical marker for myocarditis in Kawasaki disease. We performed this study to determine its quantitative significance. METHODS: We attempted to correlate log-transformed BNP concentrations (log-BNP) and clinical, laboratory, and echocardiographic variables in 81 children with Kawasaki disease. Stepwise multiple linear regression analysis was used to determine the variables independently associated with log-BNP concentration. RESULTS: Serum C-reactive protein level (P<0.0001), serum alanine aminotransferase concentration (P=0.0032), white blood cell count (P=0.0030), and left ventricular mass index (P=0.0024) were positively related with log-BNP, and hemoglobin level (P<0.0001), serum albumin level (P<0.0001), Na+ concentrations (P<0.0001), left ventricular fractional shortening (P=0.0080), and peak early diastolic tissue velocity of the left ventricular basal lateral segment (P=0.0045) were negatively related to the log-BNP concentration. Multiple regression analysis showed that serum albumin concentration (R2=0.31, P=0.0098) and left ventricular mass index (R2=0.09, P=0.0004) were significantly associated with the log-BNP concentration. CONCLUSION: Elevated BNP levels during the acute phase of Kawasaki disease may be attributable to cardiac dysfunction associated with the increase in left ventricular mass, and log-BNP concentration may be a quantitative biochemical marker of myocarditis in Kawasaki disease.

Nonpharmacologic Pain Relief with Oral 25% Dextrose or/and Pacifier for Newborn Infants

PURPOSE: The goal of this study was to compare the efficacy of oral 25% dextrose treatment or/and pacifier for analgesia in healthy newborns during intramuscular injection of a hepatitis B vaccine. METHODS: A prospective, randomized, partially blinded, clinical trial was performed in 132 healthy newborns. They were assigned randomly to 4 treatment groups: control group (2 mL distilled water), dextrose group (2 mL 25% dextrose), pacifier group, dextrose+ pacifier group (pacifier coating with 25% dextrose) during intramuscular injection of hepatitis B vaccine. For all groups, Neonatal Infant Pain Scale (NIPS), Neonatal Facial Coding System (NFCS), Premature Infant Pain Profile (PIPP) scores were evaluated before the injection, during the injection, and at 2 minutes after the injection. Pain scores were compared among the 4 groups. RESULTS: Maternal and neonatal characteristics were similar among the 4 groups. 25% dextrose treatment led to lower NIPS pain scores during injection (6.4+/-0.9 vs. 5.5+/-1.7, P=0.01) and after injection (1.6+/-2.0 vs. 0.6+/-0.9, P=0.01) and NFCS pain scores after injection (1.5+/-2.3 vs. 0.7+/-0.8, P=0.04) than control group. The number of neonates who feel the pain (indication of scores: NIPS> or =4, NFCS> or =3) decreased (9 (23.1%) vs. 0 (0%), P=0.04 via NIPS, 7 (17.9%) vs. 0 (0%), P=0.02 via NFCS). However, all treatment groups did not decreased PIPP scores, compared with the control group. CONCLUSION: Oral 25% dextrose is effective than distilled water or using pacifier with or without 25% dextrose in reducing pain during intramuscular injection of hepatitis B vaccinations. Further study based on this preliminary study need about nonpharmacologic management of pain in newborns.

Variation of parameters according to cardiac cycle length, evaluated by TDI in children / 소아과

PURPOSE: This study aimed to determine the variation in parameters according to cardiac cycle length (CL; time interval between the QRS peaks on ECG) in children by using the conventional pulsed Doppler and tissue Doppler imaging echocardiography. METHODS: Eighteen children with an anatomically normal heart were enrolled for the study. All children were examined by conventional and pulsed Doppler echocardiography at Gangneung Asan hospital between July 2006 and June 2007. We measured the CLs, mitral inflow velocities (E,A) and tissue Doppler imaging (TDI) parameters (s', e', a') from apical 4-chamber view. The TDI parameters were measured at the lateral (Lat) and septal (Sep) part of the mitral valve. All parameters were measured at 6 to 18 consecutive beats from each child. We then evaluated the linear correlation between CL and each parameter. RESULTS: The mean age was 3.6+/-0.5 years (M:F=8:10). There were significantly negative linear correlations between CL and A, Lat s', Lat a', Sep s', Sep e', Sep a' (P<0.01). There were significantly positive linear correlations between CL and E/A, Lat e'/a', Sep e'/a' (P<0.01). However, the E and Lat e' were not correlated with CL (P=0.229 and 0.221, respectively). CONCLUSION: This study showed that the values of the left ventricular functional parameters were changed according to CL. From our results, it is imperative to carefully examine beat-to-beat variations in children.

The effectiveness of biochemical indexes for evaluating the nutrition states of children / 소아과

PURPOSE: This study has been conducted to analyze whether the biochemical nutrition indexes might be useful and effective for evaluating the nutrition states of children. METHODS: We evaluated 269 children, aged 3-9 years old, who had visited Gangneung Asan Hospital for elective surgery from January 2006 to December 2007, and examined their anthropometric and preoperative laboratory data with retrospective analysis. The children were classified into underweight, normal weight, overweight, and obese groups according to body mass index (BMI). The biochemical nutrition indexes (total lymphocyte count (TLC), hemoglobin, hematocrit, serum albumin, cholesterol, et al) of each group were then analyzed statistically. RESULTS: None of the groups showed statistically significant differences in TLC. Serum albumin decreased significantly in the underweight group. Red blood cell (RBC) count, hemoglobin, hematocrit, and serum total cholesterol in the obese group were higher than in the normal weight group. None of the groups showed statistically significant increase in mean corpuscular volume or mean corpuscular hemoglobin, and it seems that the increase of hemoglobin and RBC count in the overweight and obese groups is due to the enhancement of erythropoiesis rather than iron metabolism. However, in females, almost all nutrition indexes except albumin were statistically significantly poor. CONCLUSION: Serum albumin, total cholesterol, RBC count, hemoglobin, and hematocrit were useful as nutrition indexes. However, except for albumin, these indexes were significantly poor for females. More control studies are needed to confirm the effectiveness of biochemical indexes for evaluating the nutritional state of children.

Two cases of massive fetomaternal hemorrhage treated by exchange transfusion / 대한주산의학회잡지

Massive fetomaternal hemorrhage is major cause of neonatal anemia. And neonatal anemia is fatal disease of high mortality rate. Massive fetomaternal hemorrhage is defined as hemorrhage of fetal blood above 150 mL in the maternal circulation. Massive fetomaternal hemorrhage is infrequent but represents a fatal cause of perinatal death. To identify fetal blood in the maternal circulation, Kleihauer-Betke test or flow cytometry has been usually used. But recently HPLC (high performance liquid chromatography) is used in the detection and quantification of fetomaternal transfusion. In fetomaternal transfusion, anemic newborn must be treated when circulatory failure is present. Circulatory failure often necessitates blood transfusion. We report two cases of severe anemia due to massive fetomaternal hemorrhage in full term baby. Each case was diagnosed by high performance lipuid chromatography and treated with exchange transfusion in order to avoid fluid overload and subsequent heart failure.

Comparison of Neonatal Medical Terminology between South Korea and North Korea / 대한주산의학회잡지

OBJECTIVE: The purpose of this study is to analyze the similarities and differences in neonatal medical terminology between South Korea and North Korea. METHODS: This study was carried out by searching North Korean neonatal terminologies used in textbooks published in North Korea and comparing those terms with the South Korean terms used in textbooks in South Korea. RESULTS: The North Korean terms are different from the South Korean terms in that North Korean terms adopt more from the native language. There are also some differences in the inscription of foreign language, spelling and spacing. But, there are few terms that cannot be capable of communication. CONCLUSION: We could identify the major differences between South Korean and North Korean neonatal medical terms. We should take effort to establish unified terms by establishing more communication between both sides.

The difference between the two methods for myocardial performance index in children / 소아과

PURPOSE: The object of this study was to determine the difference between two methods for myocardial performance index(MPI) in children, using the conventional and pulsed Doppler echocardiography. METHODS: A total of 27 children with anatomically normal hearts were enrolled for the study. all were examined by conventional and pulsed Doppler echocardiography at Gangneung Asan Hospital between December, 2005 and February, 2006. First, we measured the time interval(a1) between the mitral inflows from apical 4-chamber view, and the ejection time(ET1) from apical 5-chamber view. And then, we calculated MPI1, isovolumic contraction time(ICT1) and isovolumic relaxation time (IRT1). Secondly, we measured ICT2, ET2 and IRT2 from apical 5-chamber view with a Dopper signal placed at just below junction between mitral and aortic valve at the same cardiac cycle. And then, we calculated MPI2. We compared MPI1 to MPI2. All MPIs were calculated by using the formula, MPI=(ICT+IRT)/ET. RESULTS: The mean age was 5.7+/-2.2 years old(M:F=15:12). The MPI2 was higher than MPI1: 0.277+/-0.083 vs. 0.428+/-0.081(MPI1 vs MPI2, P=0.000). Also, the ICT2 was higher than ICT1: 56+/-15 msec vs 97+/-18 msec(ICT1 vs ICT2, P=0.000) and the IRT2 was higher than IRT1: 42+/-8 msec vs 53+/-9 msec(IRT1 vs IRT2, P=0.000). But, the ET2 was lower than ET1: 260+/-16 msec vs 254+/-14 msec (ET1 vs ET2, P=0.01). There was, as well, positive linear correlation between MPI1 and MPI2. CONCLUSION: This study showed that there is a difference between MPI1 and MPI2 in connection with estimating methods. However, the two MPIs had a positive linear correlation. Judging from our results, the MPI of the new method might be a useful index of venticular global function in children.

The Evaluation of Left Ventriclular Function Determined by Conventional Echocardiography and Tissue Doppler Imaging in Obese Children less than 10-year-old

PURPOSE: The objective of the study was to determine the anatomical and functional changes of the left ventricle (LV) in obese children less than 10 years old using the conventional echocardiography and tissue doppler. METHODS: A total of 45 children were enrolled for the study of which all including 12 obese children whose body mass index (BMI) exceeded 95th percentile for age and sex adjusted standard BMI of Korean children were screened by conventional echocardiographic and tissue doppler imaging examinations at Kangneung Asan hospital during June 2005 to October 2005. RESULTS: There was no statistical difference in age between control and obese group (CG vs. OG: 7.1+/-1.2 yr. vs. 8.0+/-1.5 yr). The average BMI in OG was 22.6+/-2.4 kg/m2. The conventional echocardiographic indices of LV including the diastolic LVID (LV Internal Dimension), LVPWT (LV Posterior Wall Thickness), the systolic IVST (Interventricular Septal Thickness), LVID and LVPWT were higher in OG compared to CG. Also, the LV mass (LVm), LV mass index (LVmI), fractional shortening (FS) and ejection fraction (EF) were higher in OG than CG. however, the early and late diastolic mitral inflow velocities (E, A) and their ratios (E/A) showed no differences between the two groups. The myocardial performance index (MPI) was higher in OG than CG: 0.42+/-0.09 vs. 0.35+/-0.07. The isovolemic relaxation time (IVRT) was prolonged in OG compared to CG: 55+/-8 ms vs. 46+/-9 ms. The indices of TDI including the systolic peak velocity (s') and late diastolic peak velocity (a') at mid-IVS were higher in OG than CG, but the early diastolic peak velocity (e'), e'/a', E/e' at mid-IVS showed no differences between the two groups. The indices of TDI at the lateral portion of mital annulus showed no differences between the two groups. CONCLUSION: This study showed that increased LVm, LVmI, EF, FS, MPI, IVRT and a' in obese children less than 10 years old. This result showed anatomical and functional early change of LV due to obesity similar to adult and adolescence more than 10 years old.

Immune responses of hepatitis B vaccination among very low birth weight infant / 소아과

PURPOSE: To evaluate the immunogenicity of hepatitis B vaccine among very low birth weight infants(VLBWI) who were vaccinated at 0, 1, 6 months of chronological age and to determine the factors associated with antibody formations. METHODS: A total of 243 VLBWI admitted to Seoul and Gangneung Asan Medical Center neonatal intensive care units from 1997 to 2004 were included. Of 243, 13 infants were born to HBs Ag positive mother. All infants were given DNA recombinant vaccine at 0, 1, and 6 months of chronological age. Infants born to HBs Ag positive mothers received hepatitis B immunoglobulin at birth and a total of 4 doses of vaccinations. An antibody level over 10 mIU/mL, tested at 3-4 months after last vaccination, was regarded as a positive seroconversion. RESULTS: The seroconversion rates were 84.4 percent and 84.5 percent for VLBWI and extremely low birth weight infants(ELBWI), respectively. Of 28 seronegative infants who were given revaccinations, 60.7 percent seroconverted, resulting in 95.3 percent, 97.5 percent seroconversion rates for VLBWI and ELBWI, respectively. 76.9 percent of infants born to HBsAg positive mothers seroconverted and none became hepatitis B carriers. Factors such as gestational age, sex, various neonatal illness, and kinds of vaccinations did not influence the formation of the hepatits B antibody, however, the higher the weight at time of first vacciation yielded better seroconversion rate. CONCLUSION: Revaccination of seronegative VLBWI after 3 doses of hepatitis B vaccinaton is very effective. Therefore, testing the immune status after the hepatitis B vaccination, a practice not routinely done, is highly recommended.

Clinical Aspects and Prognostic Factors of Near Drowning Children

PURPOSE: We intended to find out clinical aspects and prognostic factors of near drowning children in this study. METHODS: We conducted a retrospective study on twenty eight near-drowning children, who were admitted to Gangneung Asan Hospital from March, 1996 to March, 2002. We investigated their clinical aspects and the differences between two groups, namely a good prognosis group and a poor prognosis group. Those in the good prognosis group had no neurologic impairments and were fully recovered while those in the poor prognosis group died or fell into vegetative states. RESULTS: Out of 28 patients, there were 18 males(64.3%) and 10 females(35.7%). Age distribution was < or =4 years in 10 cases, 5 to 8 years in 7 cases, 9 to 12 years in 8 cases, and 13 to 16 years in 3 cases. Seasonal distribution was summer in 18 cases, spring in 6 cases, autumn in 3 cases, and winter in 1 case. Submersion time was < or =5 minutes in 15 cases, 5 to 10 minutes in 7 cases, and unknown in 7 cases. Initial blood glucose level was 175.2+/-88.0 mg/dL and initial arterial blood pH was 7.24+/-0.21. Good prognosis group had 23 out of 28 cases(82.1%) while poor prognosis group had 5 out of 28 cases(17.9%) which included 4 deaths and 1 vegetative case. Between the two groups there were no significant differences in the distributions of sex, age, season, submersion place, transfer time to hospital and resuscitation time. However, submersion time, mechanical ventilation need, initial blood glucose level and initial arterial pH were significantly different between the two groups. CONCLUSION: We found out that poor prognosis is expected for near-drowning children of submersion time over 10 minutes, applied mechanical ventilation, high initial blood glucose level, and low initial arterial blood pH.

Factors for Delayed Diagnosis of Acute Appendicitis in Children / 대한소아소화기영양학회지

PURPOSE: We designed this retrospective study to establish the incidence of diagnosic delay in children diagnosed with acute appendicitis and to identify associated factors with delayed diagnosis and its impact on the clinical course. METHODS: All cases of children under 15 years of age who underwent appendectomy from 1996 to 2001 at Gangneung Asan Hospital were reviewed. We reviewed signs and symptoms, type of health professional first contacted, the advice given by the health professional and a history of appendicitis in first degree relatives. Diagnostic period is the time elapsed between first complaints and definitive diagnosis. Delay was defined as diagnostic period exceeded the 48 hours. Postoperative course and complications were also reviewed. RESULTS: Incidence of diagnostic delay differed by whether diarrhea and fecalith on X-ray were present. Also children whose parents were advised to observe them at home were more likely to have a diagnostic delay. In almost half of the cases in delayed group, initial diagnosis was not acute appendicitis but gastroenteritis. The perforation rate in non-delayed group was 22%, whereas 87% in delayed group. The delayed group showed a higher number of postoperative complication and a longer hospitalization period. CONCLUSIONS: Diarrhea with abdominal pain and fever in children should not be dismissed as gastroenteritis, respiratory infections or other common disorders. Our study suggests that physicians have a responsibility to prevent diagnostic delay and resultant perforation of acute appendicitis in children by having a high index of suspicion about acute appendicitis.

Small Intestinal Infarction Associated with Henoch-Schoenlein Purpura

Henoch-Schoenlein purpura, also known as anaphylactoid purpura, is characterized by palpable purpura, colicky abdominal pain, gastrointestinal hemorrhage, arthralgias, and renal involvement. Histopathologically, the condition represents a vasculitis, and in fact, it may be the most common vasculitis syndrome affecting children. The pathogenesis of Henoch-Schoenlein purpura remains poorly understood, but it is postulated that an unknown antigenic stimulus causes elevation of circulating IgA and that complement activation leads to necrotizing vasculitis. All of its clinical features are attributable to wide spread vasculits. Abdominal pain is the most common gastrointestinal symptom, but intestinal bleeding and intussusception may occur. Mesenteric vasculitis is a rare but potentially serious complication of systemic vasculitis. It is reported in association with rheumatoid arthritis, systemic lupus erythematosus, scleroderma, polyarteritis nodosa, and giant cell arteritis in adult patients. Typical features are diffuse non-specific abdominal pain progressing on occasion to gastrointestinal hemorrhage, perforation, or more rarely infarction. Fortunately intestinal infarction is a rare complications, but if present carries a high chance of mortality, and swift management of the underlying vasculitis is crucial. We describe here an unusual case of a small intestinal infarction associated with Henoch-Schoenlein purpura caused by mesenteric vasculitis.