The Case Report of Newborn Prenatally infected by Human Immunodeficiency Virus in Republic of Korea

Trans-placental neonatal human immunodeficiency virus (HIV) infection is common in Africa; however, it is not yet reported in the Republic of Korea. With the increasing incidence of HIV infection, especially in the reproductive age group, the risk of the vertical transmission of HIV is also increasing. We report the first case of HIV infection acquired in-utero in a newborn in Korea. The baby is growing well with normal development.

A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome / 대한소아소화기영양학회지

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.

Clinical Features of Critical Congenital Heart Disease in Term Infants with Hypoxemia: A Single-Center Study in Korea

PURPOSE: This study was performed to determine the clinical features of full-term infants with hypoxemia detected by pulse oximetry and to establish the diagnosis of critical congenital heart disease (CCHD). METHODS: We retrospectively reviewed the medical records of neonates who had been admitted to the neonatal intensive care unit within 2 weeks of birth at Korea University Ansan Hospital between January 2013 and October 2017 (n=450). We classified these neonates based on the presence of hypoxemia at admission and investigated neonatal characteristics, initial symptoms, echocardiographic findings, and final diagnosis associated with hypoxemic diseases. RESULTS: Of 450 term infants, 265 infants (58.9%) were identified hypoxemia by pulse oximetry at admission. The most common symptoms of them were cyanosis and tachypnea. Among them, 80.1% of infants (214/265) were diagnosed with respiratory tract disease and 8.3% of infants (22/265) had congenital heart disease. Thirteen infants (13/265, 4.9%) had CCHD and were treated with urgent surgery or transcatheter intervention within 28 days of birth. Majority of infants with respiratory tract disorder were transferred from hospital immediately after birth, but 46.1% of infants (6/13) with CCHD remained asymptomatic after birth and were admitted after 48 hours after birth. In addition, other hypoxemic illnesses were identified as neonatal infectious and neurological diseases. CONCLUSION: This study showed the importance of assessment in neonates with hypoxemia, including those diagnosed with CCHD. The possibility of CCHD should be considered in the differential diagnosis in neonates demonstrating hypoxemia after 48 hours of birth. A larger prospective study is needed to assess the effectiveness and outcomes of pulse oximetry for neonatal screening in Korea.

Hemodynamic Effects on Systemic Blood Flow and Ductal Shunting Flow after Loading Dose of Intravenous Caffeine in Preterm Infants according to the Patency of Ductus Arteriosus

BACKGROUND: In preterm infants, caffeine citrate is used to stimulate breathing before they are weaned from mechanical ventilation and to reduce the frequency of apnea. In recent studies, effects of caffeine on the cardiovascular system have been emphasized in preterm infants with patent ductus arteriosus (PDA). METHODS: This study aimed to assess the short-term hemodynamic effects on systemic blood flow and ductal shunting flow after loading standard doses of intravenous caffeine in preterm infants. Echocardiographic studies were performed by a single investigator, before and at 1 hour and 4 hours after an intravenous infusion of a loading dose as 20 mg/kg caffeine citrate for 30 minutes. RESULTS: In 25 preterm infants with PDA, left ventricular output decreased progressively during 4 hours after caffeine loading. Superior vena cava (SVC) flow decreased and ductal shunting flow increased at 1 hour and then recovered at 4-hour to baseline values. A diameter of PDA significantly decreased only at 4-hour after caffeine loading. There were no significant changes of these hemodynamic parameters in 29 preterm infants without PDA. CONCLUSION: In preterm infants with PDA, a standard intravenous loading dose of 20 mg/kg caffeine citrate was associated with increasing ductal shunting flow and decreasing SVC flow (as a surrogate for systemic blood flow) 1 hour after caffeine loading, however, these hemodynamic parameters recovered at 4 hours according to partial constriction of the ductus arteriosus. Close monitoring of hemodynamic changes would be needed to observe the risk for pulmonary over-circulation or systemic hypo-perfusion due to transient increasing ductal shunting flow during caffeine loading in preterm infants with PDA.

A Case of Cytomegalovirus Infection in a Neonate with Osteopetrosis

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

Intraspinal and Urogenital Abnormalities in Infants with Sacral Cutaneous Lesions

PURPOSE: Sacral cutaneous lesions, such as dimples and hairy patches, may be associated with occult spinal dysraphism and urogenital abnormalities. This study aim to delineate high risk infants who need early screening for intraspinal and urogenital abnormalities by identifying the association between cutaneous lesions and combined abnormalities. METHODS: Sacral ultrasonography was performed in 777 infants with sacral cutaneous lesions from January 2010 to July 2014. Of these, 317 infants underwent abdominal ultrasonography for urogenital abnormalities. We reviewed the patient's medical records and radiographic findings retrospectively. RESULTS: Of the 777 infants, abnormal intraspinal findings such as tethered cord or meningocele were reported in 26 (3.4%). Sixteen of these 26 patients with abnormal findings underwent follow-up ultrasonography or MRI; 4 infants were diagnosed with lipomeningomyelocele through MRI, and 1 infant underwent a neurosurgical procedure. Among the 317 infants who underwent abdominal ultrasonography, 78 infants (24.6%) had congenital hydronephrosis and 8 infants (2.5%) had other urogenital abnormalities including duplication of kidney, vesicoureteral reflux, horseshoe kidney, renal cyst, or multicystic dysplastic kidney. Urogenital abnormalities were more common in patients with sacral dimples associated with hair or deviated gluteal folds than in those with simple dimples (OR 3.24 and 8.88; P=0.007 and P=0.001, respectively). CONCLUSION: Midline sacral cutaneous lesions may be associated with occult spinal dysraphism and urogenital abnormalities. To detect intraspinal lesions, ultrasonography is recommended for infants with sacral cutaneous lesions. Likewise, infants with sacral dimples associated with either hair or deviated gluteal folds, should be evaluated via abdominal ultrasonography to assess for combined urogenital abnormalities.

A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis / 소아과

Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a novel frameshift mutation. Clinically, the newborn presented with severe sepsis-like features and required mechanical ventilation and continuous venovenous hemodiafiltration. Flow cytometry analysis showed marked HLH and complete absence of intracytoplasmic perforin expression in cytotoxic cells; therefore, we performed molecular genetic analyses for PRF1 mutations, which showed that the patient had a compound heterozygous mutation in PRF1, that is, c.65delC (p.Pro22Argfs*2) and c.1090_1091delCT (p.Leu364Glufs*93). Clinical and genetic assessments for FHL are required for neonates with refractory fever and progressive multiple organ failure, particularly when there is no evidence of microbiological or metabolic cause.

Retropharyngeal abscess coinfected with Staphylococcus aureus and Mycobacterium tuberculosis after rhinoviral infection in a 1-month-old infant / 소아과

A retropharyngeal abscess is a rare disease entity in young infants but can develop after nasopharyngeal viral infection. Group B Streptococcus and Staphylococcus aureus are the most common pathogens in young infants, however, Mycobacterium tuberculosis is very rare. We report the case of retropharyngeal abscess and coinfection with S. aureus and M. tuberculosis in a very young infant presenting with respiratory symptoms due to upper airway obstruction. Usually tuberculous retropharyngeal abscesses are caused by the direct invasion of the bacteria from the spine via anterior longitudinal ligament of the spine. However, in this case, no associated spinal disease was observed.

Neonatal Transport and Regionalization of Neonatal Intensive Care: The Perspective of Transferred Preterm Infants in a Single Neonatal Intensive Care Unit of the South-western Area of Gyeonggi-do / 대한주산의학회잡지

PURPOSE: Not only regionalization of neonatal care for high risk newborn, but also safe neonatal transport system of newborn were not completely established in Korea. The aim of this study was to compare the clinical outcomes of preterm infants less than 35 week gestational age with regard to inborn and outborn status, to understand the problems of regionalization of neonatal care and neonatal transport system and to provide the basis to solve the potential problems. METHODS: This retrospective study included 40 outborn and 40 inborn preterm infants less than 35 week gestational age admitted to the neonatal intensive care unit of Korea University Ansan Hospital during the period between January 2006 and June 2013. RESULTS: Compared with those in the inborn group, the incidences of hypoglycemia and respiratory distress were significantly more frequent in the outborn group at admission. The uses of surfactant, ventilator, and inotrope were significantly more frequent in the outborn during hospitalization. Mortality occurred only in the outborn group. Most of infants were transferred by a nurse alone, not a team with doctor. CONCLUSION: Transferred preterm infants may not be sufficiently stabilized before transport, according to the result of more frequent hypoglycemia and respiratory distress in the outborn group. In order to reduce mortality and morbidity of transferred newborn from level I, the national policy about neonatal intensive care unit level guideline (manpower, equipment, and facility), regionalization of neonatal intensive care, and neonatal transport system are needed in Korea.

Myocardial Injury in Newborn Infants with Severe Metabolic Acidosis at the First Day of Life

PURPOSE: Severe acidosis by various causes can lead to multi-organ dysfunction including cardiac dysfunction (CD) due to myocardial injury. The aims of this study are to investigate CD in newborn infants with severe acidemia at the first day of life and to evaluate the effect on myocardial injury according to the type and the severity of acidosis. METHODS: This was a retrospective study of infants > or =34 weeks of gestational age with severe acidemia (pH60 mmHg) and non-RA group (pCO2 or =-10) were classified based on the degree of BE. RESULTS: The levels of CK-MB and myoglobin had significant negative relation with BE. CD group had higher incidences of seizure and mortality and higher levels of CK-MB and cTnI than those of non-CD group. Severe BE group had higher incidences of CD and seizure and higher levels of CK-MB, myoglobin and cTnI than those of mild BE group. Non-RA group had higher levels of CK-MB and myoglobin than those of RA group. CONCLUSION: At the first day of life, the newborn infants with severe metabolic acidosis have high incidences of CD and myocardial injury. Aggressive monitoring and appropriate treatment for CD according to myocardial injury should be recommended in the newborn infants with severe metabolic acidosis.

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia / 소아과

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the scarcity and poor prognosis of this disease. In the current study, we present a patient with NKH diagnosed on the basis of clinical features, biochemical profiles, and genetic analysis. Magnetic resonance spectroscopy (MRS) allowed the measurement of absolute glycine concentrations in different parts of the brain that showed a significantly increased glycine peak, consolidating the diagnosis of NKH. In additional, serial MRS follow-up showed changes in the glycine/creatinine ratios in different parts of the brain. In conclusion, MRS is an effective, noninvasive diagnostic tool for NKH that can be used to distinguish this disease from other glycine metabolism disorders. It may also be useful for monitoring NKH treatment.

Seasonal Variations of Respiratory Syncytial Virus Infection among the Children under 60 Months of Age with Lower Respiratory Tract Infections in the Capital Area, the Republic of Korea, 2008-2011

PURPOSE: Palivizumab prophylaxis has been used in the high risk groups of respiratory syncytial virus (RSV) infections, especially with the prematures, infants with chronic lung diseases or hemodynamically significant congenital heart disease. Substantial variations in timing of RSV outbreaks presents a challenge for the optimized use of palivizumab prophylaxis. This study investigates the epidemiologic characteristics of RSV associated lower respiratory tract infections (LRTI) in children, to help guide in the application of palivizumab prophylaxis in the Republic of Korea. METHODS: This was a retrospective observational study. We performed RSV culture or multiplex RT-PCR from children under 60 months of age admitted for LRTI at three hospitals in the capital area of Korea from May 2008 to April 2011. The study identified RSV infection and analyzed the RSV detection rates. RESULTS: RSV detection rate was 18.8% (1,721/9,178). The RSV season of 2008-2009 is from the second week of August to the fourth week of March and, that of 2009-2010 is from the first week of October to the third week of Apirl and that of 2010-2011 is from the third week of September to the third week of March. The RSV detection rate in preterms and low birth weight infants were significantly higher during the RSV season and non-RSV season. CONCLUSION: The RSV seasons were shown to have variations in onset, offset, and durations in each year. Physicains should determine the timing of the first and final doses of palivizumab on the basis of information about the RSV season in their own area. The real-time surveillance systems to analyze the variations of RSV seasons are necessary for the effective and economical preventions of RSV infections in high risk groups.

Effect of Umbilical Cord Milking in Extremely Low Birth Weight Infants

PURPOSE: To investigate the effects of umbilical cord milking on the level of the hemoglobin, frequency of transfusion, initial adaptation after birth and morbidities in the extremely low birth weight infants (ELBWI). METHODS: Medical records of ELBWI admitted to the Samsung Medical Center Neonatal Intensive Care Unit from November 2007 to October 2010 were reviewed retrospectively. Before June 2009, infants' umbilical cords were clamped immediately (control group, n=39). After that time, umbilical cords were clamped after repeated (two or three times) milking of the cord toward the neonate under the radiant warmer (milking group, n=37). RESULTS: ELBWI with a gestational age of > or =26 weeks presented higher level of hemoglobin at the age of 3 days (16.9+/-2.6 vs. 14.3+/-2.3 g/dL, P=0.008) and 7 days (14.6+/-1.7 vs. 12.6+/-1.8 g/dL, P=0.005), lower frequency of transfusion during the hospital days (2.5+/-0.7 vs. 4.0+/-3.0) and smaller number of neonate undergoing transfusion within the first three weeks of life in the milking group than the control group (30% vs. 70%). There was no significant difference between the two groups in blood pressure and the urine output changes. There was no significant difference in mortality and morbidity, including respiratory distress syndrome, patent ductus arteriosus, bronchopulmonary dysplasia and intraventricular hemorrhage. CONCLUSION: Umbilical cord milking in ELBWI may be a useful method to reduce transfusion in neonates, especially in those of longer than 26 weeks gestation.

Permissive Hypotension in Extremely Low Birth Weight Infants (< or =1000 gm)

PURPOSE: We performed this study to evaluate the safety of permissive hypotension management in extremely low birth weight infants (ELBWIs). MATERIALS AND METHODS: Medical records of all inborn ELBWIs admitted to Samsung Medical Center from January 2004 to December 2008 were reviewed retrospectively. Of a total of 261 ELBWIs, 47 (18%) required treatment for hypotension (group T), 110 (42%) remained normotensive (group N), and 104 (40%) experienced more than one episode of hypotension without treatment (group P) during the first 72 hours of life. Treatment of hypotension included inotropic support and/or fluid loading. RESULTS: Birth weight and Apgar scores were significantly lower in the T group than the other two groups. In the N group, the rate of pathologically confirmed maternal chorioamnionitis was significantly higher than other two groups, and the rate was higher in the P group than the T group. After adjusting for covariate factors, no significant differences in mortality and major morbidities were found between the N and P groups. However, the mortality rate and the incidence of intraventricular hemorrhage (> or =stage 3) and bronchopulmonary dysplasia (> or =moderate) were significantly higher in the T group than the other two groups. Long term neurodevelopmental outcomes were not significantly different between the N and P groups. CONCLUSION: Close observation of hypotensive ELBWIs who showed good clinical perfusion signs without intervention allowed to avoid unnecessary medications and resulted in good neurological outcomes.

Effect of Clinical Strategy for Preventing Heat Loss Between 23 And 24 Weeks of Gestation

PURPOSE: With conventional methods it has been difficult to maintain a normal body temperature in the case of premature infants born between 23 and 24 weeks of gestation (23/24W). The aim of the present study involves the evaluation of the efficacy of novel clinical strategies to prevent the initial symptoms of hypothermia in 23/24W. METHODS: We retrospectively analyzed the medical records of all 23/24W who were born and admitted to Samsung Medical Center from January 2007 to July 2010 (Period 1) and from August 2010 to May 2011 (Period 2). Data collected from medical charts included body temperature, admission delay time intervals, blood gas analysis, and estimated insensible water loss(IWL). The measurements from three days after birth were compared to those obtained during period 1 (P1), in which conventional support was applied to infants and period 2 (P2), in which new clinical strategies including 1. Elevation of the environmental temperature of the delivery room 2. NICU baby-wrapping, 3. Decreased delays in time intervals from delivery to admission, and 4. Initiation of procedures following the stabilization of body temperature. RESULTS: The body temperature upon admission was significantly higher in P2 than P1 (P1 34.7+/-0.9 vs. P2 35.3+/-0.6degrees C, P=0.011). After the initial procedure, following NICU admission, the body temperature was also significantly higher in P2 than in P1 (P1. 34.9+/-0.8 vs. P2 35.5+/-0.4, P<0.001). The IWL of the first and second day was significantly decreased in infants in the P2 group. Subjects in the P2 group demonstrated significantly improved initial blood gas results of base deficits and bicarbonate concentration, as compared to the P1 group. CONCLUSION: New strategies for the prevention of hypothermia were beneficial for decreasing the recorded incidence of hypothermia and improving the IWL, and base deficits of the initial blood gas analysis in 23/24W.

Prognosis of Extremely Low Birth Weight infants (1,000 g) Associated with Antenatal Magnesium Sulfate (MgSO4) Exposure / 대한주산의학회잡지

OBJECTIVE: To determine whether magnesium sulfate exposure is associated with a reduced risk of perinatal complications in extremely low birth weight infants (ELBWIs). METHODS: Total 351 inborn extremely low birth weight infants admitted between January 2000 and December 2008 to Samsung Medical Center were divided into the prenatal MgSO4-exposed group (n=76), and control group (n=275), and were retrospectively analyzed. Multiple demographic, clinical characteristics and neonatal complications were compared. RESULTS: Prenatally MgSO4-exposed ELBWIs had significantly higher gestational age, birth weight, and incidence of small for gestational age. In neonatal complications, retinopathy of premature (ROP) treated with laser was less common in MgSO4-exposed group. There were no differences between two groups in the incidence of respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), patent ductus arteriosus (PDA), PDA ligation, intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL), necrotizing enterocolitis (NEC), and mortality. CONCLUSION: Perinatal exposure to magnesium sulfate was associated with decreased incidence of ROP treated with laser.

Perianesthetic considerations in laparoscopic bariatric surgery / 대한마취과학회지

No abstract available.

Perinatal Complications of Mothers and Neonates Resulting from Inadequate Prenatal Care / 대한주산의학회잡지

OBJECTIVE: With improvement in the social and economic states of Korea, most of the pregnancies have been appropriately examined but there are a few mothers and newborns who have not received proper prenatal care. The aim of this study was to investigate obstetrical and neonatal complications resulting from inadequate prenatal care. METHODS: The medical records of 107 neonates who had received prenatal care lesser than 3 visits and admitted to the neonatal intensive care units of Korea University Ansan Hospital from January 2004 to December 2009 were retrospectively reviewed. Obstetrical complications, neonatal gestational age, birth weight, neonatal complications were analyzed. We compared neonatal complications of the inadequate prenatal care group and those of the adequate prenatal care group lesser than 34 weeks' gestational age neonates. RESULTS: In obstetrical complications, there were twenty women with anemia, fifteen cases with premature rupture of membranes, and fourteen chorioamnionitis. In neonatal complications, there were forth-four premature infants, and forty-four low birth weight infants. Respiratory distress syndrome, small for gestational age, severe intraventricular hemorrhage were more common in the inadequate prenatal care group than the adequate prenatal care group. Thirty-seven infants (34.5%) were sent to the adoption agency. Fifty infants (46.6%) received medical expense support by the social service. CONCLUSIONS: Obstetrical and neonatal complications and social burden were increasing when the pregnancies had not received adequate prenatal care. To reduce perinatal complications of mothers and neonates in low socioeconomic classes, practical nation's policies and social supports for adequate prenatal care should be provided.

Post-traumatic Back Pain Revealed as Tuberculous Spondylitis: A Case Report

Tuberculous spondylitis is a very rare disease, but it can result in bone destruction, kyphotic deformity, spinal instability, and neurologic complications unless early diagnosis and proper management are done. Because the most common symptom of tuberculous spondylitis is back pain, it can often be misdiagnosed. Atypical tuberculous spondylitis can be presented as a metastatic cancer or a primary vertebral tumor. We must make a differential diagnosis through adequate biopsy. A 30-year-old man visited our clinic due to back and chest pain after a recent traffic accident. About 1 year ago, he had successfully recovered from tuberculous pleurisy after taking anti-tuberculosis medication. We performed epidural and intercostal blocks but the pain was not relieved. For the further evaluation, several imaging and laboratory tests were done. Finally, we confirmed tuberculous spondylitis diagnosis with the biopsy results.

Obstetric and Neonatal Outcomes of the Teenage Pregnancy

PURPOSE: In recent years, Korea has showed a steady increase in the frequency of teenage births, while the overall birth rate has declined. As the teenage birth is known as a high risk pregnancy itself, we examined perinatal complications of teenage mothers and whose neonates in aspects of medical problem, and social status and support. METHODS: We examined the perinatal characteristics of teenage mothers and whose babies, who were hospitalized at Korea University Ansan Hospital from January 2004 to July 2009 using medical records retrospectively. Twenty-seven teenage mothers and their 28 babies were enrolled in this study. RESULTS: Teenage mothers were all unmarried and showed high rates of preterm labor, maternal anemia, and unexpected delivery. Among them, 11 (40.7%) were from families that were separated. Eleven mothers (40.7%) did not have any antenatal care. There were high rates of prematurity and low birth weight (60.7% and 64.3%, respectively). The complication included: respiratory distress syndrome, patent ductus arteriosus and necrotizing enterocolitis. Fourteen babies (51.9%) were not going to be brought up by their biological parents. CONCLUSION: Teenage pregnancy had high rates of preterm labor and associated complications, often caused by the lack of proper antenatal care. Babies from unmarried mothers were likely to be adopted and this could be a social burden. Therefore, to reduce unplanned teenage pregnancy and births, sex education and social supports should be provided to all teenagers.