A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with PIK3CA Mutation

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP is related to a somatic mosaic mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. We report a case of hemimegalencephaly with polymicrogyria and cutaneous capillary malformations diagnosed by genetic evaluation of MCAP in the neonatal period. The PIK3CA mutation [c.1635G>T (p. Glu545Asp)] was determined by Sanger sequencing. The patient was treated with a ventriculoperitoneal shunt for progressive hydrocephalus. Because of the dynamic, progressive clinical manifestations and tumor-prone traits of MCAP, early diagnosis is important. Moreover, since the phosphoinositide 3-kinase (PI3K)-specific inhibitor, a targeted therapy for the PI3K/AKT/mTOR signaling pathway is emerging as a new therapy, early genetic diagnosis is becoming increasingly important.

Changes in Survival Rate for Very-Low-Birth-Weight Infants in Korea: Comparison with Other Countries

Recently the Korean Neonatal Network (KNN) was established in order to enhance treatment outcomes further through the registration of very-low-birth-weight infants (VLBWI) data. The present study was conducted on 2,606 VLBWI, 2,386 registered and 220 un-registered, in the KNN participating centers, with the objective of reporting on recent survival rates of VLBWI in Korea and verifying the changing trends in survival rates with data from the 1960s and beyond. The study also aimed to compare the premature infants' survival rate in Korea with those reported in neonatal networks of other countries. The recent survival rate of VLBWI increased more than twice from 35.6% in the 1960s to 84.8%, and the survival rate of the extremely low birth weight infants (ELBWI) increased by more than 10 times, indicating improvement of the survival rate in premature infants with lower birth weight and gestational age. Comparison of VLBWI between countries showed improved survival rates according to each birth weight group in Canada, Australia-New Zealand, and European countries with Japan at the head, but in terms of comparison based on gestational age, differences, except for Japan, have been reduced. Efforts to increase the survival rate of premature infants in Korea with low birth rate are inevitable, and they should be the foundation of academic and clinical development based on its network with advanced countries.

Epiduroscopic Removal of a Lumbar Facet Joint Cyst

Facet joint synovial cysts are usually associated with osteoarthritis of the adjacent facet joint and/or spondylolisthesis. In between the conservative and operative ends of the treatment spectrum lie minimally invasive techniques such as cyst rupture using epiduroscopy. In this report, we describe an 82-year-old male patient presenting with low back pain radiating to his lower left extremity and associated paresthesia. Magnetic resonance imaging of the lumbar spine revealed a synovial cyst at left L4/5 facet joint. Using epiduroscopy, the cyst was mechanically ruptured by popping it with the tip of the scope. The patient remained symptom-free at his successive visits until 12 months after the procedure, and was opened for desired follow up.

Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?

BACKGROUND/AIMS: The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. METHODS: DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD. RESULTS: Eighty-one IBD-associated variants and 35 variants in PID genes were revealed by WES. The most frequently occurring variants were carried by nine (41%) and four (18.2%) CD probands and were ATG16L2 (rs11235604) and IL17REL (rs142430606), respectively. Twenty-four IBD-associated variants and 10 PID variants were predicted to be deleterious and were identified in the heterozygous state. However, their functions were unknown with the exception of a novel p.Q111X variant in XIAP (X chromosome) of a male proband. CONCLUSIONS: The presence of many rare variants of unknown significance limits the clinical applicability of WES for individual CD patients. However, WES in children may be beneficial for distinguishing CD secondary to PID.

The Readmission of Preterm Infants of 30-33 Weeks Gestational Age within 1 Year Following Discharge from Neonatal Intensive Care Unit in Korea

PURPOSE: This study was conducted to evaluate the readmission rate of preterm infants of 30-33 weeks gestational age (GA) within 1 year following discharge from the neonatal intensive care unit (NICU). METHODS: This research was a part of the Retrospective Study to Evaluate Rehospitalization & Health Care Utilization after NICU Discharge in Preterm Infants (< or =33 weeks) II (RHANPI II) project conducted by the Committee on Data Collection and Statistical Analysis of the Korean Society of Neonatology. Enrolled infants (n=1,257) of 46 hospitals from April to September 2012, were retrospectively studied. RESULTS: The average GA and birth weight of the study population was 32(+2)+/-1(+1) weeks and 1,785+/-386 g, respectively. The cumulative readmission rate during the 360 days following discharge from the NICU was 27.3%. The cumulative readmission rate according to GA was 36.4%, 30.1%, 25.9% and 22.7% for infants born at 30, 31, 32 and 33 weeks GA, respectively. The corresponding respiratory readmission rate was 16.3%; this was 59.8% of total readmissions. There was no significant difference in the respiratory readmission rate according to GA group (log-rank test for trend, P-value=0.0558). Of the infants who were readmitted with respiratory problems, 57.0% (n=53/93) tested positive for respiratory syncytial virus (RSV). CONCLUSION: The cumulative readmission rate during the 360 days following discharge from the NICU was 27.3%. Respiratory problems were the most common cause of readmission, and RSV was the most common virus associated with respiratory readmission. Additionally, there was no difference in the rate of respiratory readmission according to GA group.

Optimal Oxygenation in Preterm Infants

In the past several decades, supplemental oxygen has been used more than any other medical product in preterm infants. Early trials suggested that restricting oxygen supplementation could reduce retinopathy of prematurity without any other consequences; however, when oxygen restriction was practiced widely, an increase in the neonatal mortality rate was observed. Subsequently, many studies have been reported oxygen toxicity and stress in the eye, brain, lungs and other organs. Both hypoxia and hyperoxia are harmful, requiring clinicians to maintain the oxygen level at an optimal middle range in premature infants to minimize the risks associated with either of the two extremes. Recently, the results of a multi-national, randomized, prospective, meta-analysis collaboration study shows low saturation targets (85-89%) until 36 weeks postmenstrual age are associated with a higher incidence of deaths and necrotizing enterocolitis, whereas higher saturation targets (91-95%) are associated with a higher incidence of retinopathy of prematurity in infants of <28 weeks' gestational age. The optimal oxygenation target level in preterm infants still remains unclear and randomized control trials are required for further investigation according to gestational age and conditions of preterm infants.

Auriculotemporal and greater auricular nerve blocks have roles in patients with Ramsay Hunt syndrome with trigeminal nerve involvement: A report of two cases

Ramsay Hunt syndrome (RHS) refers to herpes zoster infection of the geniculate ganglion of the facial nerve. Cases complicated by multicranial nerve involvement in the process of reactivation of the virus, which are known to show virulent clinical course and worse prognosis, are not common in literature as in practice, and there has been only one reported case of suspected co-involvement of the trigeminal nerve in Korean literature. Therefore, in cases of RHS with severe rash over the face and neck, it is pertinent to give consideration to such multiple involvement in their early presentation. Facial nerve palsy and herpes related pain are the two worrisome complication, which could be alleviated by early treatment with neural blockade in addition to oral medication. Especially, nerve blocks are known to decrease the extent of nerve inflammation or damage, thereby facilitating recovery and probably preventing postherpetic neuralgia. We report two rare cases of Ramsay Hunt syndrome with trigeminal nerve involvement, where early implementation of blockade of somatic peripheral nerve branches, in addition to the conventional treatment, promoted early recovery.

A survey of user acceptance of electronic patient anesthesia records / 대한마취과학회지

BACKGROUND: An anesthesia information management system (AIMS), although not widely used in Korea, will eventually replace handwritten records. This hospital began using AIMS in April 2010. The purpose of this study was to evaluate users' attitudes concerning AIMS and to compare them with manual documentation in the operating room (OR). METHODS: A structured questionnaire focused on satisfaction with electronic anesthetic records and comparison with handwritten anesthesia records was administered to anesthesiologists, trainees, and nurses during February 2011 and the responses were collected anonymously during March 2011. RESULTS: A total of 28 anesthesiologists, 27 trainees, and 47 nurses responded to this survey. Most participants involved in this survey were satisfied with AIMS (96.3%, 82.2%, and 89.3% of trainees, anesthesiologists, and nurses, respectively) and preferred AIMS over handwritten anesthesia records in 96.3%, 71.4%, and 97.9% of trainees, anesthesiologists, and nurses, respectively. However, there were also criticisms of AIMS related to user-discomfort during short, simple or emergency surgeries, doubtful legal status, and inconvenient placement of the system. CONCLUSIONS: Overall, most of the anesthetic practitioners in this hospital quickly accepted and prefer AIMS over the handwritten anesthetic records in the OR.

Probiotics and Necrotizing Enterocolitis

Necrotizing enterocolitis (NEC) is the most common serious disease of the gastrointestinal tract in preterm infants. Although the pathogenesis of NEC is completely unknown, enteral bacterial growth plays in such disease. The immature development of the preterm gut and the exposure to the neonatal intensive care unit environment along with associated treatments promotes inappropriate intestinal colonization with a predominance of pathogenic organisms. Probiotics are the dietary supplements, containing potentially beneficial bacteria or yeast and may offer potential benefits for preterm infants by increasing mucosal barrier function, improving nutrition, up-regulation of the immune system, reducing mucosal colonization by potential pathogens, and altering the key components of intestinal inflammation. Large randomized controlled trials have shown its effectiveness in the probiotics of the prophylaxis for NEC and mortality. However, important questions remain in establishing the clinical applications for the probiotics, including the optimal duration of administration as well as preferred probiotics dose and species. Further, there is a need to understand the interaction of the probiotics and gut. More additional clinical studies are needed to determine the safety and efficacy of the probiotics in the prophylaxis of NEC.

A Multicenter Study of Preterm Birth Weight and Gestational Age-Specific Neonatal Survival Rate and Causes of Death / 대한주산의학회잡지

OBJECTIVES: This multi-institutional study aims to investigate the survival rate of premature infants and the causes of death according to gestational age and birth weight during the past three years. METHODS: This study retrospectively examined medical records of 1,400 premature infants who were born at 23 to 34 weeks gestation and were hospitalized in the neonatal intensive care unit of seven hospitals from 2004 to 2006. Gestational age, birth weight, gender, plurality, survival rate, and cause of death were examined, and the survival rate was measured according to gestational age and birth weight. RESULTS: The average gestational age and the average birth weight of the subjects was 31+/-1.8 weeks and 1,775+/-530 g, respectively. The survival rate showed no difference by gender, plurality and years. The survival rate of very premature babies, low birth weight infants, very low birth weight infants, and extremely low birth weight infants were 87.6%, 93.8%, 83.2%, and 62.7% respectively. Causes of death were the complications of prematurity (83.8%), congenital anomalies (15.2%), birth asphyxia (5.0%) and others (2.5%). The survival rate increased significantly according to the gestational age and also by the birth weight. CONCLUSIONS: Our data do not represent of the survival rate and the causes of death in Korea. However, our data may reflect the common survival rate and the causes of death in Korean NICU, because the 7 hospitals participated in this study were common facilities and manpower in Korea.

Persistent neurological deficits after intrathecal administration of 0.5% hyperbaric bupivacaine: A case report

Persistent neurologic injury is a rare but feared complication of neuroaxial anesthesia. Local anesthetics are believed to be an important cause. A 68-year-old man with an ASA physical status of 2 was scheduled to undergo elective knee arthroplasty. He had no clinical evidence of neurological deficits before the operation. Spinal anesthesia was administered using 10 mg of 0.5% bupivacaine and 20microgram of fentanyl without difficulty or complications during the procedure. On the second postoperative day, the patient complained of bilateral weakness in his lower extremities.

Endotracheal intubation in a patient with an almost complete obstruction of the glottis due to a movable supraglottic tumor: A case report / 대한마취과학회지

Intubation in patients with an obstruction of the glottis due to a large mass may present great challenge to most anesthesiologists. If tracheostomy is not available, flexible fiberscope guided endotracheal intubation is now the part of the standard management in these cases, but difficulty in advancing the tracheal tube over the fiberscope and into the trachea may be encountered. In this case, a 60-year-old male with a huge supraglottic mass was given general anesthesia for laryngomicroscopic surgery and debulking of the mass lesion. We planned an awake flexible fiberoptic intubation but failed to railroad the tube over the fiberscope even after successfully placing the scope inside the trachea. During various attempts to pass the tracheal entrance, the patient coughed and the tube slid into the trachea as mass moved aside and we could successfully secure the airway.

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.

A Case of Mycoplasma pneumoniae Pneumonia with a Fulminant Course in a Previously Healthy Boy / 소아알레르기및호흡기학회지

Mycoplasma pneumoniae is a common cause of community-acquired respiratory infection in children. Through uncertain pathologic mechanisms, which most probably involve immunologically cell-mediated tissue damage, it causes life-threatening disease on rare occasion. We herein report a case of M. pneumoniae pneumonia, with encephalopathy followed by multiple organ failure in a previously healthy boy. Despite of intensive therapies with intravenous antibiotics, corticosteroid, hemodiafiltration, and transfusion, his neurologic and pulmonary sequales have remained. In most cases M. pneumoniae pneumonia are usually self- limiting with benign outcome. Even in healthy individual, however, it can manifest itself with a fulminant course and multi organ failure.

The Effect of Rush Immunotherapy with House Dust Mite in the Production of IL-5 and IFN-gamma from the Peripheral Blood T Cells of Asthmatic Children

Although the mechanisms are unclear, rush immunotherapy (RIT) may be effective to treat allergic diseases. We investigated the long-term modifications of cellular immunity as a mechanism of RIT. The RIT group, included 15 house dust mite (HDM)-sensitized asthmatic children, received RIT only with Dermatophagoides farinae (Der f) and Dermatophagoides pteronyssinus (Der p), whereas the control group, consisted of 10 HDM-sensitized asthmatic children, did not receive RIT. The asthma symptom scores and the skin reactivities to Der f were measured. The cellular proliferative responses and intracellular interleukin (IL)-5 and interferon (IFN)-gamma productions from peripheral blood T cells were also measured before, 8 weeks and 1 yr after RIT. The symptom scores, skin reactivity to Der f and cellular proliferative responses to Der f were decreased significantly after 8 weeks and maintained until 1 yr of RIT. The IFN-gamma/IL-5 ratio of the CD3(+) and CD4(+) cells were increased significantly after 8 weeks and maintained until 1 yr of RIT, while there were no changes in the control group. These data indicate that the continuous functional modification from Th2 to Th1 phenotype of the CD4(+) T cells are developed after RIT in the asthmatic children sensitized with HDM.

Multicenter clinical study on birth weight and associated anomalies of single umbilical artery / 소아과

PURPOSE: To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. METHODS: Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. RESULTS: A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. CONCLUSION: The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.

Epidemiology of Bronchopulmonary Dysplasia in Korea: Multi-Center Study / 대한주산의학회잡지

PURPOSE: As the neonatal intensive care advanced, the incidence of neonatal bronchopulmonary dysplasia (BPD) has increased. We conducted a multi-center investigation of the prevalence of BPD in six hospitals to investigate the epidemiology of BPD in Korea. METHODS: Retrospective reviews ware performed for survival rate, prevalence of BPD of total 4,476 newborn infants who were admitted to neonatal intensive care unit in Konkuk university hospital, Sung-Ae General hospital, Kangbuk Samsung hospital, Chung-Ang university hospital, Konyang university hospital, and Gangneung Asan hospital between June, 2005 and May, 2007. By Ogawa, BPD was defined as oxygen dependency at 28 days after birth, with respiratory distress symptoms and the change of chest x-ray finding, and classified as 6 subtypes. Classic BPD was defined as oxygen dependency at 36 weeks of postmenstrual age. RESULTS: Survival rate at 28 day after birth was 98.7%. BPD infants by Ogawa classification were 70 (1.6% of overall newborn infants), classic BPD infants were 30 (0.7%). Especially, among 237 preterm infants with birth weight less than 1,500 gram who survived to 28 days of life, 60 (25.3%) had BPD by Ogawa classification and 23 (9.7%) had classic BPD. In Ogawa classification, infants with RDS as type I and II, were 17 infants (24.3%) and 44 infants (62.9%). Home oxygen therapy was performed 8 infants (11.4%). Prevalence of retinopathy of prematurity was 35 infants (50.0%), necrotizing enterocolitis was 3 infants (4.3%), and intraventricular hemorrhage was 6 infants (8.6%). CONCLUSION: Prevalence of BPD infants was 1.6% of overall newborn, 25.3% of preterm infants with birth weight less than 1,500 gram. Among 70 BPD infants, BPD by Ogawa classification with history of RDS as type I and II were 24.3%, 62.9% as the majority of BPD. This study would be the first report of epidemiology of Korean BPD infants by multi-center study.

Comparative study of newborns of Asian immigrant and Korean women / 소아과

PURPOSE: This study compares the maternal characteristics and birth outcomes of infants of Asian immigrant mothers from developing countries with those of the infants of Korean mothers. METHODS: In this multicenter and retrospective study, Asian immigrant women who had delivered between January 2005 and June 2008 were enrolled from9 Medical Centers. In all, 333 births to Asian immigrant women from developing countries (Asian-Korean infants) were included in this study. In addition, sex-, birth year-, and gestational age-matched 333 neonates born to Korean mothers were selected as the control group (Korean infants). On the basis of the hospital data, we investigated the nationality, age, and medical history of the mothers and compared the incidence of congenital infection, Apgar score, weight, height, and head circumference of Asian-Korean infants with those of the Korean infants. RESULTS: The average maternal age of Asian women from developing countries at birth term was 26.7 years, which was significantly lower than that of Korean women (30.8 years, P<0.05). The birth weight of Asian-Korean infants (2,869 g) was significantly smaller than that of Korean infants (2,995 g, P<0.05). There was a significant difference in the incidence of congenital syphilis infection between the Asian-Korean infants and Korean infants (5 cases vs. 0 case, P<0.05). CONCLUSION: There were significant differences in the perinatal outcomes between the Korean and Asian-Korean infants. A multicenter large-scaled study should be performed to analyze the perinatal outcomes of Asian-Korean infants.

Epidemic acute interstitial pneumonia in children occurred during the early 2006s / 소아과

PURPOSE: This study was aimed to analyze the clinical characteristics of patients with acute interstitial pneumonia who had presented similar clinical patterns from March to June, 2006 and to describe our experience of treatment and to identify risk factors associated with prognosis. METHODS: The clinical characteristics, radiologic and histopathologic findings and response to steroids of 15 patients (non-survival group [n=7] and survival group [control, n=8]) with acute interstitial pneumonia were investigated through the review of medical records. RESULTS: The mean age of the patients was 26 (range: 3-48) months. Cough, cyanosis and fever were frequent symptoms. The most frequent radiologic findings on admission were pneumomediastium and extensive ground glass opacity. Surgical lung biopsy was performed on 8/15 (53.3%) patients and diffuse alveolar damage was found. Mechanical ventilation was applied for 9/15 (60.0%) patients for 40 (range: 1-99) days. Five patients in survival group received steroid treatment and 7 patients in non-survivial group (P=0.20). One patient in survival group received steroid pulse treatment and 4 patients in non-survival group (P=0.12). Seven patients died all of respiratory failure. The survival rate was 53.4%. CONCLUSION: The patients with acute interstitial pneumonia which occurred on spring 2006 showed high mortality because of rapidly and extensively progressing pulmonary fibrosis and air leakage. Therefore, we should consider surgical lung biopsy and steroid application earlier. We should recognize this acute interstitial pneumonia occurring on spring in domestics and need to investigate the cause and treatment in large scale.

The Efficacy of the COMFORT Scale in Assessing Optimal Sedation in Critically Ill Children Requiring Mechanical Ventilation

Sedation is often necessary to optimize care for critically ill children requiring mechanical ventilation. If too light or too deep, however, sedation can cause significant adverse reactions, making it important to assess the degree of sedation and maintain its optimal level. We evaluated the efficacy of the COMFORT scale in assessing optimal sedation in critically ill children requiring mechanical ventilation. We compared 12 month data in 21 patients (intervention group), for whom we used the pediatric intensive care unit (PICU) sedation protocol of Asan Medical Center (Seoul, Korea) and the COMFORT scale to maintain optimal sedation, with the data in 20 patients (control group) assessed before using the sedation protocol and the COMPORT scale. Compared with the control group, the intervention group showed significant decreases in the total usage of sedatives and analgesics, the duration of mechanical ventilation (11.0 days vs. 12.5 days) and PICU stay (15.0 days vs. 19.5 days), and the development of withdrawal symptoms (1 case vs. 7 cases). The total duration of sedation (8.0 days vs. 11.5 days) also tended to decrease. These findings suggest that application of protocol-based sedation with the COMPORT scale may benefit children requiring mechanical ventilation.