Interactions Between Innate Immunity Genes and Early-Life Risk Factors in Allergic Rhinitis

PURPOSE: Allergic rhinitis (AR) is a common chronic disease. Many factors could affect the development of AR. We investigated early-life factors, such as delivery mode, feeding method, and use of antibiotics during infancy, which could affect the development of AR. In addition, how interactions between these factors and innate gene polymorphisms influence the development of AR was investigated. METHODS: A cross-sectional study of 1,828 children aged 9-12 years was conducted. Three early-life factors and AR were assessed by a questionnaire. Skin prick tests were done. Polymorphisms of TLR4 (rs1927911) and CD14 (rs2569190) were genotyped. RESULTS: Use of antibiotics during infancy increased the risk of AR (aOR [95% CI] 1.511 [1.222-2.037]) and atopic AR (aOR [95% CI], 1.565 [1.078-2.272]). There were synergistic interactions between caesarean delivery, formula feeding, and use of antibiotics in the rate of atopic AR (aOR [95% CI], 3.038 [1.256-7.347]). Additional analyses revealed that the risk for the development of AR or atopic AR subjects with the TLR4 CC genotype were highest when all the 3 early-life factors were present (aOR [95% CI], 5.127 [1.265-20.780] for AR; 6.078 [1.499-24.649] for atopic AR). In addition, the risk for the development of AR or atopic AR in subjects with the CD14 TT genotype were highest when all the 3 early-life factors were present (aOR [95% CI], 5.960 [1.421-15.002] for AR; 6.714 [1.440-31.312] for atopic AR). CONCLUSIONS: Delivery mode, feeding method, and use of antibiotics during infancy appeared to have synergistic interactions in the development of AR. Gene-environment interactions between polymorphism of innate genes and early- life risk factors might affect the development of AR.

A Case of Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

Risk Factors of Epilepsy After Stroke in Children

PURPOSE: Post-stroke seizures and epilepsy were mainly studied in adults. Selected groups of children with stroke were studied to evaluate the incidence of seizures and epilepsy and the risk factors of epilepsy after stroke. METHODS: Seventy consecutive stroke children younger than 15 years of age were retrospectively reviewed to evaluate the incidence, times, causes of epilepsy and the risk factors epilepsy after stroke. The number and location of the lesion as imaged on the CT scan, and MRI scan were determined. RESULTS: Epilepsy after stroke was diagnosed in 38(54.3%) of 70 stroke patients:16 (45.7%) of 35 with hemorrhagic stroke and 22(62.9%) of 35 with ischemic stroke. Arteriovenous malformation(18), vitamin K deficiency(7), hemophilia(5) were frequent causes in hemorrhagic stroke, and idiopathic(15), moyamoya disease(11), hemiconvulsion-hemiplegia-epilepsy syndrome(6) were frequent in ischemic stroke. No statistically significant differences were noted with relation to sex, type of stroke, number of the lobar lesions, between cortical and subcortical lesions and onset time of initial seizure. Epilepsy developed more often in patients who had lesions located in the left cerebral hemisphere (76.7%) than on the right(42.3%)(P<0.01). CONCLUSION: Epilepsy developed more often in children who had lesion located in left cerebral hemisphere. No statistically significant differences noted in relation to sex, type of stroke, number of the lobar lesions and between cortical and subcortical lesions.

Three Cases of Internal Jugular Phlebectasia

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.

A Case of Satoyoshi Syndrome Presented with Progressive Muscular Spasm and Alopecia

Satoyoshi syndrome(generalized Komuragaeri disease) is a rare disorder of unknown cause, characterized by progressive, painful, intermittent muscle spasms and alopecia. Endocrinopathy with amenorrhea, secondary skeletal abnormalities, and diarrhea or unusual malabsorption are frequently seen. It seems that autoimmunity may play a role in its pathogenesis. We report a 13-year-old girl with characteristic manifestations of the syndrome. She was treated with intravenous gammaglobulin and Prednisolone. Painful muscle cramps were gradually improved, but the scalp condition did not change. Satoyoshi syndrome should be considered in children with unexplained muscle spasms and alopecia.

Chromosome 22q11 Deletion in Patients with Infundibular Ventricular Septal Defect

PURPOSE: This study was undertaken to determine the incidence of chromosome 22q11 deletion in patients with infundibular ventricular septal defect(VSD). METHODS: Sixty-two children with infundibular VSD were included in this study from January 1999 to December 2000. Chromosome 22q11 deletion was confirmed by FISH, using LSI DiGeorge/VCFS region dual color probe(Vysis, USA). RESULTS: Thirty-two patients had conotruncal cardiac defects:tetralogy of Fallot (TOF) in 15; TOF with absent pulmonary valve in 1; VSD with pulmonary atresia in 7; truncus arteriosus in 3; double outlet right ventricle in 2; interrupted aortic arch in 2; transposition of the great arteries in 2. Thirty patients had isolated infundibular VSD without conotruncal cardiac defect:perimembranous infundibular VSD in 15; subarterial infundibular VSD in 9; muscular infundibular VSD in 6. Chromosome 22q11 deletion was observed in 8 patients(male 5, female 3):TOF 2; VSD with pulmonary atresia 4; truncus arteriosus 1; perimembranous infundibular VSD 1. All of the patients with chromosome 21q11 deletion showed typical facial appearance. Low incidence was found of chromosome 22q11 deletion in patients with infundibular VSD without conotruncal cardiac defect than in those with conotruncal cardiac defect(3.3% vs 21.9%). CONCLUSION: These data indicate that a small proportion of isolated infundibular VSD is pathogenetically related to deletion of chromosome region 22q11.

Concordance of Seropositivity between Helicobacter pylori and Hepatitis A Virus IgG in Children of Gwangju and Chonnam Area / 대한소아소화기영양학회지

PURPOSE: This study was undertaken to investigate the seroepidemiologic pattern of Helicobacter pylori (H. pylori) and hepatitis A virus (HAV) infections in children. METHODS: A total of 315 serum samples were obtained from healthy children, living in Gwangju and Chonnam area. All serum samples were assayed for H. pylori IgG level using enzyme immunoassay techniques. HAV IgG level in serum were tested by a competitive radio-immunoassay in 215 subjects. The age-specific seroprevalence of H. pylori and HAV was separately analysed. The concordance of seropositivity and seronegativity between H. pylori and HAV infection was examined by the kappa statistic analysis. RESULTS: Seropositivity was found in 17.5% (55/315) and 30.2% (65/215) of the subjects for H. pylori and HAV, respectively. Cross-tabulation of these data showed that 21 subjects (9.8%) were seropositive and 135 (62.8%) were seronegative for both H. pylori and HAV, 15 (7.0%) were seropositive for only H. pylori and 44 (20.5%) for only HAV. The seroprevalence of H. pylori and HAV increased significantly with age. There was a slight agreement between H. pylori and HAV seropositivity (kappa=0.26). CONCLUSION: This study shows a slight similarity in the concordance of seropositivity and seronegativity between H. pylori and HAV infection and provides evidence that H. pylori and HAV may share a common mode of transmission.

A Case of Primary Lymphatic Dysplasia Presented with Lymphedema and Chylothorax / 소아알레르기및호흡기학회지

Primary lymphatic dysplasia is a congenital maldevelopment of the lymphatic system, interfering with its function and causing an effusion of chyle or lymph into the limbs and pleural or peritoneal cavity. We describe a case of primary lymphatic dysplasia in a 34-months old girl, presented with lymphedema at birth and refractory chylothorax. This case was treated by microlymphaticovenous anastomosis on 16 days after birth. Conservative therapy, such as total parentral nutrition with repeated thoracentesis was ineffective to control chylothorax. Ligation of the thoracic duct was performed.

Surgical Management of Cecal Diverticulitis Detected during Appendectomy

PURPOSE: Acute diverticulitis of the right colon is not rare in Korea and the clinical presentation is indistin guishable from acute appendicitis. Cecal diverticulitis has led to a controversy in the management of disease. METHODS: Thirty-one cases of acute cecal diverticulitis who underwent operation for suspected acute appendicitis were reviewed retrospectively from January 1995 to December 1998. RESULTS: There were 17 men & 14 women. Ages ranged from 9 to 69 (mean: 37.5) years. All patients presented with signs and symptoms as acute appendicitis. All patients were explored through a transverse incision in the right lower quadrant under the impression of acute appendicitis. An appendectomy and drainage was performed in 13 patients, and resection of the lesion was performed in 18 patients (12 ileocecal resection, one partial cecectomy including appendix, one partial cecectomy and an appendectomy, 4 diverticulectomy and appendectomy), depending on the location of diverticulitis, severity of inflammation, and surgeon. Staples (TA(R), GIA(R)) were used in all cecal resection cases except for diverticulectomy. Five complications were observed, 3 in cecal resection cases (one wound seroma, one wound infection and one bleeding), and 2 in appendectomy and drainage cases (two wound infections). There was no postoperative mortality. The average length of the postoperative stay was 10.2 days in the drainage group and 8.8 days in the cecal resection group. Two recurrences were observed. One was the patient who had diverticulectomy performed. The other was a patient who had had appendectomy and drainage. CONCLUSION: We concluded that the preferred surgical management of an acute cecal diverticulitis operated for a presumed acute appendicitis is cecectomy using staples depending on its location and severity of inflammation. It was safe, relatively easy to do through the same incision, and could be a definitive treatment.

Clinical Study on Supraventricular Tachycardia in Children

PURPOSE: Supraventricular tachycardia(SVT) is the most common symptomatic tachyarrhythmia in pediatric age group. Causes, types, and clinical characteristics of this arrhythmia in children are different from those in adults. This study was undertaken to investigate the clinical features of SVT in children. METHODS: A retrospective study was done on 36 patients with SVT, who were diagnosed at Department of Pediatrics, Chonnam National University Hospital from January, 1991 through August, 1999. The types of SVT, age of onset, associated cardiovascular abnormalities, and response to treatment were analyzed. RESULTS: Atrioventricular reentrant tachycardia(AVRT) using an accessory pathway was found in 63.9%. Primary atrial tachycardia and AV nodal reentrant tachycardia(AVNRT) were noted in 25.0% and in 5.6%, respectively. SVT occurred in over 50% of the total patients before 1 year of age : during the neonatal period, 22.2% ; during the infant period, 33.3%. Primary atrial tachycardia usually developed in the infant period. AVRT mostly occurred in the infant period, appeared to decline in the preschool period and then to increase again in the school age. AVNRT occurred only after 1 year of age. Associated cardiovascular abnormalities were found in 22.2%. Successful conversion to sinus rhythm was possible in 91.7%. Initially, normal sinus rhythm was achieved in 55.9% of the 34 children treated with adenosine. Radiofrequency catheter ablation(RFCA) was successfully performed in all 10 patients without complication and there was no recurrence of SVT during the follow-up period. CONCLUSION: We conclude that the mechanism of SVT appeared to have an age-dependent distribution, AVRT was the most common mechanism and adenosine was effective drug for restoration of normal sinus rhythm in the initial treatment of SVT. RFCA seemed to be effective and safe method for the treatment of SVT in children.

Routine Measurement of Serum Calcitonin Concentration is Useful in Early Detection of Medullary Thyroid Carcinoma Among Patients with Nodular Thyroid Disease / 대한내분비학회지

BACKGROUND: Serum calcitonin is a sensitive and specific marker for diagnosis of medullary thyroid carcinoma (MTC) and its determination leads to accurate preoperative diagnosis and gives chances of definite cure. However, since many non-MTC diseases are also associated with calcitonin elevation, its significance in patients with mild or moderately elevated basal serum calcitonin levels is not clear. Furthermore, the normal value of calcitonin using immunoradiometric assay (IRMA) kit has not so far been definitely ascertained. This study is aimed at assessing the clinical significance of routine measurement of serum basal calcitonin concentration in nodular thyroid disease patients and evaluating the pentagastrin stimulation test in case of mild or moderate elevation of basal calcitonin level. We also measured serum calcitonin value in 408 normal individuals. METHODS: The basal serum calcitonin concentrations using a commercial IRMA kit (Medgenix CT-U.S.-IRMA) were measured in 818 patients with nodular thyroid disease (average age 45 years with a range from 13 to 82 years; 125 males and 693 females) who visited thyroid clinics in Samsung Medical Center between June 1997 and December 1998. Serum concentrations of T3, T4, TSH and thyroid autoantibodies were measured and ultrasonography of thyroid and thyroid scan using 131I or 99mTc-pertechnetate were performed in all patients. We also studied 408 healthy subjects without any thyroid disease (average age 48 years with a range from 20 to 86 years; 224 females). RESULTS: The calcitonin value in normal subjects was found to range from 0 to 13 pg/mL, and it was shown that men had higher calcitonin level than women (p 10pg/mL) in nodular thyroid disease was 1.71% (14/818), and the incidence of MTC was 0.73% (6/818) in this study. MTC was found in all patients with basal serum calcitonin levels more than 100 pg/mL. Pentagastrin stimulation test was also required to diagnose MTC in patients with basal serum calcitonin levels between 30 and 100pg/mL. The calcitonin concentration stimulated by pentagastrin increased more than 400pg/mL or more than 3.8 times of basal concentration. It was possible to diagnose MTC with fine needle aspiration and cytology in only one case out of six patients with MTC. CONCLUSION: Fine needle aspiration and cytology in diagnosing MTC was not sensitive and not devoid of false positive results. We confirmed that serum calcitonin measurement was very useful means for the preoperative diagnosis of unsuspected MTC. Pentagastrin stimulation test may be a reliable means of evaluation in nodular thyroid disease patients with mild or moderate elevation of basal calcitonin level. We recommend routine measurement of serum calcitonin concentration in patients with nodular thyroid disease.

Hepatocellular Carcinoma Following Vertical Transmission of Hepatitis B Virus in a Child with X-linked Agammaglobulinemia / 대한소아소화기영양학회지

X-linked agammaglobulinemia (XLA) is a primary inherited B-cell immunodeficiency. The prevalence of neoplastic disease in patients with XLA is approximatedly 0.7%. The most frequent tumor is lymphoreticular malignancy. We report a case of hepatocellular carcinoma (HCC) in a 13-year-old boy with XLA, after probable maternal transmission of hepatitis B virus. The authors consider that the vertical transmission of hepatitis B virus might play an important role in the development of HCC in a child with XLA who could not eliminate hepatitis B virus effectively.

A Clinical Observation on Children with Corrosive Esophagitis / 대한소아소화기영양학회지

PURPOSE: This study was undertaken to evaluate the clinical features and complication such as esophageal stricture in children with corrosive esophagitis. METHODS: We retrospectively reviewed medical records of 31 children who accidentally ingested corrosive materials and visited to emergency room of Chonnam National University Hospital from Jan. 1992 to Dec. 1999. Twenty-one children were examined by upper gastrointestinal(UGI) endoscopy to evaluate location and severity of caustic injury. RESULTS: 1) Among 31 patients, there were 20 males and 11 females and the ratio of male to female was 2:1. Average age at diagnosis was 2.3 years (12months to 9.8 years). Twenty-seven(87.1%) patients were accidentally ingested vinegar. 2) Initial presenting symptoms were dysphagia(54.8%), vomiting(48.3%), chemical burn on lips and skin(45.2%), excessive salivation(45.2%), coughing and respiratory grunting(32.3%) and aspiration pneumonia(9.8%). 3) UGI endoscopic examination showed caustic injury in 17 children : grade I in 8, grade II in 7 and grade III in 2. The region of caustic injury was proximal esophagus in 5, distal esophagus in 3, entire esophagus in 9 and stomach in 6. 4) Corrosive esophageal strictures developed in 6 children(19.4%) and gastric outlet stricture in 1(3.2%). All of them showed grade II or III caustic injury on endoscopic examination. CONCLUSION: The development of esophageal stricture was related to the severity of the caustic injury. Early UGI endoscopic examination in caustic ingestion seems to be useful for prediction of development of caustic stricture.

A Case of Reflex Sympathetic Dystrophy Syndrome

Reflex sympathetic dystrophy syndrome (RSDS) is a well-recognized disorder in adult group. But it is rarely diagnosed in the pediatric age group. RSDS is often a response to a physical or an emotional distress. Diagnosis of RSDS is made on a clinical basis whenever a patient with a painful limb presenting two or more of the following signs and symptoms : Persistent pain and swelling, vasomotor instability, trophic skin changes in the same extremity and autonomic imbalance. We report a case of RSDS in a 14- year-old girl. Her left arm was cold, edematous and blue with a limited active range of movement. Bone scan and thermography showed abnormal findings in affected arm. Prednisolone therapy, 60mg/day, was started. She also received sympathetic blocks and conservative treatment with physical therapy, transcutaneous electrical nerve stimulation, psychological therapy and anti-depressants. She showed gradual improvement in symptoms and signs.

Two Cases of Left Ventricular Tumors Complicating Subaortic Stenosis in Newborn Infants

The most cornmon obstruction of left ventricular outflow in childhood is produced either by a fibrous ring below the aortic valve, or by localized or diffuse muscular hypertrophy of the inter-ventricular septum. Cardiac tumors causing subaortic stenosis in the newborn infant are extremely rare. This report describes two cases of subaortic stenosis caused by a tumor of the left ventricle in newborn infants, both diagnosed by 2-dimensional echocardiography. In one patient, the obstructive portion of the tumor was successfully resected from its attachment to the ventricular septum by aortotomy on day 5. Histologic examination confirmed the diagnosis of rhabdomyoma. This patient developed cutaneous, neurologic and radiologic abnormalities of tuberous sclerosis during the follow-up of 42 months.

A Case of Gastroduodenal Intussusception Secondary to Gastric Hemangiomatosis / 대한소아소화기영양학회지

Gastroduodenal intussusception is an invagination of part of the stomach through the pylorus and into the duodenum for a varying distance. The lead point of the intussusception is usually a benign gastric tumor such as gastric adenoma. We report a case of gastroduodenal intussusception in a 33-month-old boy presented with nonbilious vomiting and abdominal pain. Laparotomy revealed a gastroduodenal intussusception. After reduction and gastrostomy, a mass measuring 15×5 cm in size, was found at the leading point of the intussusceptum. The mass was resected, and pathological diagnosis showed a gastric hemangiomatosis.

A Case of Bronchial Mucoepidermoid Carcinoma in Child

Bronchial mucoepidermoid carcinoma is very rarely encountered in children. We report a case of bronchial mucoepidermoid carcinoma in a 10-year-old boy who presented with persistent cough and atelectasis. Bronchoscopic examination showed a tumor mass occluding the right bronchus intermedius, and the mass was removed by bronchoscopy. The results of the pathological examination revealed low-grade mucoepidermoid carcinoma. He underwent right middle and lower lobectomy with bronchoplasty, and there was no metastasis. He remains symptom-free without recurrence of bronchial tumor during the follow-up period of 12 months.

Two Cases of 2:1 Atrioventricular Block in Infants with Idiopathic Long QT Syndrome

Idiopathic long QT syndrome(LQTS) is an important cause of syncope, seizures, serious ventricular arrhythmias and sudden death in children. The abnormalities of AV conduction such as 2:1 AV block in children with LQTS is rarely reported. We reported two cases of 2:1 atrioventricualr block in infants with LQTS. Patient 1, a female newborn, revealed bradycardia(60 beats/min) and QTc of 0.65sec with 2:1 AV block at birth. She died of polymorphic ventricular tachycardia at 26days of age. Patient 2, a 2-month-old female, exhibited prolonged QT interval (QTc=0.54sec), 2:1 AV block, and intermittent Wenckebach conduction. After she received propranolol, sinus rhythm with 1:1 AV conduction and QTc of 0.5sec was seen. After a follow-up of 6 months, the infant is still doing well.

Normal ECG Standard in Preterm and Term Neonates in the First Day of Life

PURPOSE: To obtain the normal standard of the electrocardiogram(ECG) in newborn infants, METHODS: Standard 12-lead ECG recordings of 146 healthy neonates of gestational age above 30 weeks recorded in 24 hours after birth were analyzed for the following parameters: heart rate, QRS axis, PR interval, QTc interval, R and S wave amplitude. RESULTS: The mean gestational age of preterm(between 30 and 37 weeks) and term infants was 33.2 +/-2.4 and 38.4+/-3.2 weeks, and the mean birth weight was 2,168+/-371 g and 3,254+/-436 g, respectively. There was no meaningful difference between two groups in heart rate, PR interval, QTc interval, and QRS axis. Amplitudes of R waves in V1>-V6 leads and S waves in V2, V3 and V5 leads in term baby group were significantly larger than those in preterm baby group. The sum of amplitudes of R and S waves was largest in V2. The amplitude of combined R+S waves in V2 and V3 leads was significantly larger than that in V5 and V6 leads in both groups. This difference was more prominent in tbaby group. CONCLUSION: The results suggest that the increase in cardiac muscular mass and progressive right ventricular predominance are in accordance with the increase in gestational age.

Therapeutic Efficacy of Prednisolone Withdrawal Followed by Recombinant alpha Interferon in Children with Chronic Hepatitis B / 대한소아소화기영양학회지

PURPOSE: To evaluate the efficacy of interferon alpha therapy with or without prednisolone in children with chronic hepatitis B. METHODS: Twenty-eight children (22 boys, 6 girls, mean age 130 months) had seropositive results for HBsAg, HBeAg and HBV DNA; 11 had chronic persistent hepatitis and 17 had chronic active hepatitis. The patients were divided into two groups depending upon their inflammatory activity on liver biopsy, pretreatment serum ALT levels and HBV DNA levels. Fourteen children (group 1: chronic active hepatitis, ALT > or = 100 IU/L and HBV DNA 100 pg/300 microliter) received prednisolone in decreasing daily doses of 60 mg/m2, 40 mg/m2, and 20 mg/m2, each for 2 weeks, followed after 2 weeks by interferon alpha 2a on the same schedule. At the end of therapy, 3 end points were analyzed: HBeAg seroconversion, serum ALT normalization rate and clearance of serum HBV DNA. RESULTS: At the end of treatment, HBe antigen-to antibody seroconversion was higher but not more significant in group 1 than group 2 (71.4% vs. 50.0%). Only one patient in group 2 who lost HBeAg, also cleared HBsAg. ALT normalization was similar in both groups (64.3% in group 1 vs. 55.6% in group 2). Clearance of serum HBV DNA was observed in 78.6% of patients in group 1 and 64.3% in group 2, but no significant differences. Complete response was similarly achieved in both groups (57.1% in group 1 vs. 50.0% in group 2). Interferon alpha therapy with prednisolone priming was well tolerated and all children finished therapy. CONCLUSION: The combined therapy with prednisolone followed by interferon alpha may be safe and effective in inducing a serological and biochemical remission of the disease in approximately 50% of children with chronic hepatitis B and with a high level of viral replication and less active disease. However, a controlled study should be performed to confirm these results.