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BACKGROUND: Infants with congenital anomalies of the digestive system and abdominal wall defects requiring surgery are at risk of growth and developmental delays. The aim of this study was to analyze long-term growth and developmental outcomes for infants with congenital anomalies of the digestive system and abdominal wall defects who underwent surgery in Korea. METHODS: We extracted data from the Korean National Health Insurance Service database for the years 2013-2019. Major congenital anomalies were defined according to the International Classification of Diseases-10 and surgery insurance claim codes. The χ² test and the Cochran-Armitage trend test were performed for data analysis. RESULTS: A total of 4,574 infants with major congenital anomalies in the digestive system and abodminal wall defects, who had undergone surgey, were reviewed. Anorectal obstruction/stenosis was the most prevalent anomaly (4.9 per 10,000 live births). The prevalence of congenital anomalies of the digestive system was 15.5 per 10,000 live births, and that of abdominal wall defects was 1.5 per 10,000 live births. Seven percent of infants with congenital anomalies in the digestive system died, of which those with diaphragmatic hernia had the highest mortality rate (18.8%). Among 12,336 examinations at 6, 12, 24, 36, 48, 60, and 72 months of age, 16.7% showed a weight below the 10th percentile, 15.8% had a height below the 10th percentile, and 13.2% had a head circumference below the 10th percentile. Abnormal developmental screening results were observed in 23.0% of infants. Infants with esophageal atresia with/without tracheoesophageal fistula most often had poor growth and development. Delayed development and cerebral palsy were observed in 490 (10.7%) and 130 (2.8%) infants respectively. Comparing the results of infants born in 2013 between their 24- and 72-month health examinations, the proportions of infants with poor height and head circumference growth increased by 6.5% and 5.3%, respectively, whereas those with poor weight growth and abnormal developmental results did not markedly change between the two examinations. CONCLUSION: Infants with congenital anomalies of the digestive system and abdominal wall defects exhibit poor growth and developmental outcomes until 72 months of age. Close monitoring and careful consideration of their growth and development after discharge are required.
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Parede Abdominal , Anormalidades Congênitas , Lactente , Gravidez , Feminino , Humanos , Criança , Adolescente , Parede Abdominal/cirurgia , Parto , Sistema Digestório , República da Coreia/epidemiologia , Anormalidades Congênitas/epidemiologiaRESUMO
BACKGROUND: In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies. METHODS: Korean National Health Insurance claim data were obtained for neonates born in 2013-2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence. RESULTS: The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery. CONCLUSION: The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
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Doenças da Aorta , Anormalidades Congênitas , Gastrosquise , Nascimento Prematuro , Lactente , Feminino , Recém-Nascido , Humanos , Criança , Nascimento Prematuro/epidemiologia , Constrição Patológica , Recém-Nascido Prematuro , República da Coreia/epidemiologia , Anormalidades Congênitas/epidemiologia , Sistema de Registros , PrevalênciaRESUMO
Purpose: This study aimed to examine the advantages and usefulness of transient elastography (Fibroscan®) in diagnosing non-alcoholic steatohepatitis in children and adolescents compared to those of abdominal computed tomography and liver ultrasonography. Methods: Forty-six children and adolescent participants aged between 6 and 16 years who underwent transient elastography (Fibroscan®) as well as liver ultrasonography or abdominal computed tomography were included. Thirty-nine participants underwent liver ultrasonography and 11 underwent computed tomography. The physical measurements, blood test results, presence of metabolic syndrome, and the degree of liver steatosis and liver fibrosis were analyzed, and their correlations with transient elastography (Fibroscan®), abdominal computed tomography, and liver ultrasonography, as well as the correlations between examinations, were analyzed. Results: Thirty-six participants (78.3%) were boys, and the mean age was 12.29±2.57 years, with a mean body mass index of 27.88±4.28. In the 46 participants, the mean values for aspartate aminotransferase, alanine aminotransferase, and total bilirubin were 89.87±118.69 IU/L, 138.54±141.79 IU/L, and 0.77±0.61 mg/dL, respectively. Although transient elastography (Fibroscan®) and abdominal computed tomography grading had a statistically significant positive correlation with aspartate aminotransferase and alanine aminotransferase values, the correlations between the results of grading performed by transient elastography (Fibroscan®), abdominal computed tomography, and liver ultrasonography were not statistically. Conclusion: We confirmed that each examination was correlated with the results of some blood tests, suggesting the usefulness and possibility of diagnosis and treatment of steatohepatitis mediated by transient elastography (Fibroscan®) in the department of pediatrics.
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Despite the expanding clinical application of hydroxychloroquine in dermatology, the overall data on hydroxychloroquine use among dermatologists are limited. With retrospective review of the medical records of the 790 patients who were prescribed hydroxychloroquine, we classified the diagnoses into 12 disease categories, the lupus erythematosus group being the largest. The lupus erythematosus group had the longest prescription duration (median, 6.2 months), whereas the photodermatitis group had a significantly shorter prescription duration (median, 0.5 months). The overall good response rate was 77.1%. The photodermatitis group had the best response (88.7%), followed by the lupus panniculitis (85.1%) and lichen planus (84.4%). In conclusion, hydroxychloroquine has proven utility for various inflammatory skin diseases, including but not limited to cutaneous lupus erythematosus.
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Dermatologia , Lúpus Eritematoso Cutâneo , Lúpus Eritematoso Sistêmico , Humanos , Hidroxicloroquina/uso terapêutico , Lúpus Eritematoso Cutâneo/diagnóstico , Lúpus Eritematoso Cutâneo/tratamento farmacológico , República da Coreia , Estudos RetrospectivosRESUMO
Hypotension in the early stages of life appears in 20% of very low birth weight (VLBW) infants. The gestational age and birth weight are the risk factors highly related to the postnatal hypotension. Other risk factors slightly differ between different studies. So, we evaluated the risk factors and prognosis that are associated with infants treated with hypotension in the early stages of life, after excluding the influences of gestational age and small for gestational age (SGA). VLBW infants registered in the Korean Neonatal Network between 2013 and 2015 treated for hypotension within a week after their birth were selected as study subjects. The rest were used as a control group. Risk factors and the prevalence of severe complications, including mortality, were investigated and compared after matching for gestational age and SGA. The treatment rate for hypotension within the first postnatal week was inversely related to decreasing gestational ages and birth weights. In particular, 63.4% of preterm infants born at ≤ 24 weeks' gestation and 66.9% of those with a birth weight < 500 g were treated for hypotension within a week of birth. Regression analysis after matching showed that 1-minute Apgar score, neonatal cardiac massage or epinephrine administration, symptomatic patent ductus arteriosus, early onset sepsis, and chorioamnionitis were significantly associated with hypotension. In the hypotension group, mortality, grade 3 or higher intraventricular hemorrhage, periventricular leukomalacia, and moderate to severe bronchopulmonary dysplasia rates were significantly higher after the matching for gestational age and SGA. Hypotension during the first postnatal week is very closely related to the prematurity and the condition of the infant shortly after birth. Regular prenatal care including careful monitoring and appropriate neonatal resuscitation are very crucial to decrease the risk of hypotension in the early stages of life.
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Hipotensão/epidemiologia , Hipotensão/terapia , Recém-Nascido de muito Baixo Peso/fisiologia , Feminino , Idade Gestacional , Humanos , Hipotensão/diagnóstico , Recém-Nascido , Modelos Logísticos , Masculino , Análise Multivariada , Alta do Paciente , Prognóstico , República da Coreia/epidemiologia , Fatores de RiscoRESUMO
BACKGROUND: Preterm birth is associated with increased infant mortality. However, it is not clear whether prematurity is associated with mortality after 1 year of age. There is a lack of research on mortality rate and causes of death after infancy in preterm babies in Korea. We aimed to analyze the mortality rates and causes of deaths up to 5 years of age in Korea. METHODS: Using the Microdata Integrated Service of Statistics Korea database, this retrospective cohort study screened infants born between 2010 and 2012. After applying the exclusion criteria, 1,422,913 live births were classified into the following groups by gestational age: those born at < 32 weeks' gestation (n = 10,411), those born between 32 and 36 weeks' gestation (n = 75,657), and those born at ≥ 37 weeks' gestation (n = 1,336,845). The association of gestational age with mortality in infancy (< 1 year of age) and childhood (1-5 years of age) was analyzed, with and without covariates. The major causes of death in infancy and childhood were analyzed by gestational age. RESULTS: Overall, 4,930 (0.3%) children died between birth and 5 years of age, with 19.1% of these deaths occurring after infancy. Adjusted hazard ratios (HRs) for infant death were 78.79 (95% confidence interval [CI], 71.33-87.04) and 4.62 (95% CI, 4.07-5.24) for the < 32 and 32-36 weeks groups, respectively, compared to the full-term group; the adjusted HRs for deaths occurring at ages 1-5 years were 9.25 (95% CI, 6.85-12.50) and 2.42 (95% CI, 1.95-3.01), respectively. In infancy, conditions originating in the perinatal period were the most common cause of deaths in the < 32 and 32-36 weeks groups (88.7% and 41.9%, respectively). Contrarily, in the ≥ 37 weeks group, conditions originating in the perinatal period explained 22.7% of infant deaths, with congenital malformations primarily accounting for 29.6% of these deaths. The most common cause of death in children (after infancy) in the < 32 weeks group was perinatal causes (25.0%); in the 32-36 weeks group, congenital malformation and nervous system disease were the common causes (21.7% and 19.1%, respectively). In the ≥ 37 weeks group, injury, poisoning, and other consequences of external causes explained 26.6% of childhood deaths, followed by neoplasms and nervous system disease (15.7% and 14.7%, respectively). CONCLUSION: Low gestational age is associated with not only infant mortality but also child mortality. The major causes of death differed by gestational age in infancy and childhood. For the care of preterm infants, especially those born at < 32 weeks' gestation, particular attention and continuous monitoring are needed in consideration of the major causes of deaths until 5 years of age.
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Causas de Morte , Mortalidade da Criança , Mortalidade Infantil , Peso ao Nascer , Pré-Escolar , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/patologia , Nascimento Prematuro/mortalidade , Modelos de Riscos Proporcionais , República da Coreia , Estudos RetrospectivosRESUMO
Juvenile polyps are the most common types of polyps in children, and patients usually present with lower gastrointestinal (GI) bleeding as the predominant symptom. These lesions, which are referred to as hamartomas, usually measure approximately 2 cm in size and are benign tumors located mainly in the rectum and sigmoid colon. The most common symptom of a juvenile polyp is mild intermittent rectal bleeding. It is rare for anemic patients because the amount of blood loss is small and often not diagnosed immediately. We present the case of a 6-year-old girl with a juvenile polyp in the distal transverse colon, who developed hypovolemic shock due to massive lower GI bleeding. Pediatricians must perform colonoscopy for thorough evaluation of polyps, because their location and size can vary and they can cause massive bleeding.
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DNI is the immature granulocyte fraction provided by a blood cell analyzer, which is determined by subtracting the fraction of mature polymorphonuclear leukocytes from the sum of myeloperoxidase-reactive cells. We aimed to evaluate the role of Delta-neutrophil index (DNI) in cardiac prognosis prediction in children with Kawasaki disease (KD). Medical records of 193 patients were retrospectively reviewed. The values of DNI, white blood cells, erythrocyte sedimentation rate, the percent of polymorphonuclear leucocytes, C-reactive protein, aspartate transaminase, alanine aminotransferase, total bilirubin data of children with KD were analyzed. Also, sex and age of children were compared. The value of DNI was higher in children with cardiac complications [median 0.8 (0-0.26) vs 5.3 (3.55-8.95); P < 0.001]. The ROC curves showed that DNI was a better predictor of cardiac complications than other parameters. The best cutoff value for DNI to predict cardiac complications was 5.55% with sensitivity of 80% and specificity of 82% (AUC 0.883, 95% confidence interval [CI] 0.807-0.959, P < 0.05). DNI could serve as a facile and useful marker to predict cardiac complications in children with KD, as it is included in a routine complete blood count.
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Doença da Artéria Coronariana/etiologia , Síndrome de Linfonodos Mucocutâneos/complicações , Neutrófilos , Biomarcadores/sangue , Sedimentação Sanguínea , Criança , Pré-Escolar , Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/imunologia , Feminino , Humanos , Lactente , Contagem de Leucócitos , Masculino , Síndrome de Linfonodos Mucocutâneos/sangue , Síndrome de Linfonodos Mucocutâneos/imunologia , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Transient elastography (FibroScan®) is a non-invasive and rapid method for assessing liver fibrosis. While the feasibility and usefulness of FibroScan® have been proven in adults, few studies have focused on pediatric populations. We aimed to determine the feasibility and usefulness of FibroScan® in Korean children. METHODS: FibroScan® examinations were performed in 106 children (age, 5-15 years) who visited the Konyang University Hospital between June and September 2018. Liver steatosis was measured in terms of the controlled attenuation parameter (CAP), while hepatic fibrosis was evaluated in terms of the liver stiffness measurement (LSM). Children were stratified into obese and non-obese controls, according to body mass index (≥ or < 95th percentile, respectively). RESULTS: The obese group was characterized by significantly higher levels of aspartate aminotransferase (AST, 57.00 ± 48.47 vs. 26.40 ± 11.80 IU/L; P < 0.001) and alanine aminotransferase (ALT, 91.27 ± 97.67 vs. 16.28 ± 9.78 IU/L; P < 0.001), frequency of hypertension and abdominal obesity (abdominal circumference > 95% percentile) (P < 0.001), CAP (244.4-340.98 dB/m), and LSM (3.85-7.77 kPa) (P < 0.001). On FibroScan®, 30 of 59 obese children had fibrosis (LSM > 5.5 kPa), whereas the remaining 29 did not (LSM < 5.5 kPa). Obese children with fibrosis had higher levels of AST (73.57 ± 56.00 vs. 39.86 ± 31.93 IU/L; P = 0.009), ALT (132.47 ± 113.88 vs. 48.66 ± 51.29 IU/L; P = 0.001), and gamma-glutamyl transferase (106.67 ± 69.31 vs. 28.80 ± 24.26 IU/L; P = 0.042) compared to obese children without fibrosis. LSM had high and significant correlation (P < 0.05) with AST, ALT, homeostasis model assessment for insulin resistance, and AST-to-platelet ratio index. CONCLUSION: FibroScan® is clinically feasible and facilitates non-invasive, rapid, reproducible, and reliable detection of hepatic steatosis and liver fibrosis in the Korean pediatric population.
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Técnicas de Imagem por Elasticidade/métodos , Cirrose Hepática/diagnóstico , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Adolescente , Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Índice de Massa Corporal , Criança , Pré-Escolar , Feminino , Humanos , Cirrose Hepática/complicações , Masculino , Hepatopatia Gordurosa não Alcoólica/complicações , Obesidade/complicações , Obesidade/diagnóstico , gama-Glutamiltransferase/sangueRESUMO
PURPOSE: Adenotonsillar hypertrophy (ATH) that causes upper airway obstruction might lead to chronic hypoxemic pulmonary vasoconstriction and right ventricular (RV) dysfunction. We aimed to evaluate whether adenotonsillectomy (T&A) in children suffering from obstructive sleep apnea (OSA) due to severe ATH could improve RV function. METHODS: Thirty-seven children (boy:girl=21:16; mean age, 9.52±2.20 years), who underwent T&A forsleep apnea due to ATH, were included. We analyzedthe mean pulmonary artery pressure (mPAP), the presence and the maximal velocity of tricuspid regurgitation (TR), the tricuspid annular plane systolic excursion (TAPSE), and the right ventricular myocardial performance index (RVMPI) with tissue Doppler echocardiography (TDE) by transthoracic echocardiography pre- and post-T&A. The follow-up period was 1.78±0.27 years. RESULTS: Only the RVMPI using TDE improved after T&A (42.18±2.03 vs. 40±1.86, P=0.001). The absolute value of TAPSE increased (21.45±0.90 mm vs. 22.30±1.10 mm, P=0.001) but there was no change in the z score of TAPSE pre- and post-T&A (1.19±0.34 vs. 1.24±0.30, P=0.194). The mPAP was within normal range in children with ATH, and there was no significant difference between pre- and post-T&A (19.6±3.40 vs. 18.7±2.68, P=0.052). There was no difference in the presence and the maximal velocity of TR (P=0.058). CONCLUSION: RVMPI using TDE could be an early parameter of RV function in children with OSA due to ATH.
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PURPOSE: Timely antibiotic therapy in selected cases of diarrhea associated with bacterial infections can reduce the duration and severity of illness and prevent complications. The availability of a predictive index before identification of causative bacteria would aid in the choice of a therapeutic agent. METHODS: The study included patients admitted to the pediatrics unit at Konyang University Hospital for acute inflammatory diarrhea from August 1, 2015 to July 31, 2016 who underwent multiplex polymerase chain reaction testing. Of 248 patients, 83 had positive results. The clinical symptoms and blood test results were examined in 61 patients with Campylobacter spp. (25 patients), Salmonella spp. (18 patients), and Clostridium perfringens (18 patients) infections. The mean age of the 61 patients (male:femal=31:30) was 84.0±54.8 months, and the mean hospital stay was 4.6±1.7 days. RESULTS: There were no statistical differences in sex, age, clinical symptoms, or signs. Patients with Campylobacter infection were significantly older (P=0.00). C-reactive protein (CRP) levels in patients with Campylobacter infection were higher than those in the other 2 groups, at 9.6±6.1 mg/dL. The results of receiver-operating characteristic curve analysis showed that the cutoff age was ≥103.5 months (sensitivity, 72%; specificity, 86%) and the CRP cutoff level was ≥4.55 mg/dL (sensitivity, 80%; specificity, 69%). CONCLUSION: Age (≥103.5 months) and higher CRP level (≥4.55 mg/dL) were good predictors of Campylobacter enterocolitis. If neither criterion was met, Campylobacter enterocolitis was unlikely (negative predictive value 97.2%). When both criteria were met, Campylobacter enterocolitis was highly likely.
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PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. RESULTS: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.
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Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Análise em Microsséries , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/etnologia , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/etnologia , Masculino , Fenótipo , República da Coreia , Adulto JovemRESUMO
We suggest a convenient nanoemulsion fabrication method to create hyaluronan (HA)-based nanohydrogels for effective transdermal delivery. First, hyaluronan-conjugated dodecylamine (HA-Do) HA-based polymers to load the lipophilic agents were synthesized with hyaluronan (HA) and dodecylamine (Do) by varying the substitution ratio of Do to HA. The synthetic yield of HA-Do was more than 80% (HA-Do (A): 82.7 ± 4.7%, HA-Do (B): 87.1 ± 3.9% and HA-Do (C): 81.4 ± 4.5%). Subsequently, nanohydrogels were fabricated using the nanoemulsion method. Indocyanine green (ICG) simultaneously self-assembled with HA-Do, and the size depended on the substitution ratio of Do in HA-Do (nanohydrogel (A): 118.0 ± 2.2 nm, nanohydrogel (B): 121.9 ± 11.4 nm, and nanohydrogel (C): 142.2 ± 3.8 nm). The nanohydrogels were delivered into cells, and had excellent biocompatibility. Especially, nanohydrogel (A) could deliver and permeate ICG into the deep skin layer, the dermis. This suggests that nanohydrogels can be potent transdermal delivery systems.
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Fetal death is an important indicator of national health care. In Korea, the fetal mortality rate is likely to increase due to advanced maternal age and multiple births, but there is limited research in this field. The authors investigated the characteristics of fetal deaths, the annual changes in the fetal mortality rate and the perinatal mortality rate in Korea, and compared them with those in Japan and the United States. Fetal deaths were restricted to those that occurred at 20 weeks of gestation or more. From 2009 to 2014, the overall mean fetal mortality rate was 8.5 per 1,000 live births and fetal deaths in Korea, 7.1 in Japan and 6.0 in the United States. While the birth rate in Korea declined by 2.1% between 2009 and 2014, the decrease in the number of fetal deaths was 34.5%. The fetal mortality rate in Korea declined by 32.9%, from 11.0 in 2009 to 7.4 in 2014, the largest decline among the 3 countries. In addition, rates for receiving prenatal care increased from 53.9% in 2009 to 75.0% in 2014. Perinatal mortality rate I and II were the lowest in Japan, followed by Korea and the United States, and Korea showed the greatest decrease in rate of perinatal mortality rate II. In this study, we identified that the indices of fetal deaths in Korea are improving rapidly. In order to maintain this trend, improvement of perinatal care level and stronger national medical support policies should be maintained continuously.
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Mortalidade Fetal/tendências , Mortalidade Infantil/tendências , Mortalidade Perinatal/tendências , Peso ao Nascer , Demografia , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Idade Materna , Gravidez , Cuidado Pré-Natal , República da Coreia , Razão de Masculinidade , Estados UnidosRESUMO
Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.
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Esophageal granular cell tumor (GCT) is a rare neoplasm originating from the Schwann cells of the submucosal neuronal plexus. Histology is the gold standard for its diagnosis. Endoscopic resection or surgical excision should be considered, depending on the potential for malignancy. Here, we report a case of an esophageal GCT in an adolescent. A 12-year-old boy presented with a 1-year history of dysphagia and vomiting. Upper gastrointestinal endoscopic examination and esophagography showed narrowing of the midesophagus, and computed tomography angiography of the thoracic aorta revealed an esophageal or periesophageal mass posterior to the paratracheal segment of the esophagus. The tumor was surgically excised, and based on the pathological findings, esophageal GCT was diagnosed.
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PURPOSE: Neurocardiogenic syncope (NCS) is the most frequent cause of fainting during adolescence. Inappropriate cardiovascular autonomic control may be responsible for this clinical event. The head-up tilt test has been considered a diagnostic standard, but it is cumbersome and has a high false-positive rate. We performed a study to evaluate whether P-wave dispersion (PWD) could be a useful electrocardiographic parameter of cardiac autonomic dysfunction in children with NCS. METHODS: Fifty-four patients with NCS (28 boys and 26 girls; mean age, 12.3±1.4 years) and 55 age- and sex-matched healthy controls were enrolled. PWD was obtained as the difference between maximum and minimum durations of the P wave on standard 12-lead electrocardiography in all patients and controls. RESULTS: The value of PWD was significantly higher in the syncope group than in the control group (69.7±19.6 msec vs. 45.5±17.1 msec, respectively; P<0.001). The minimum duration of P wave was shorter in the syncope group than in the control group (43.8±16.8 msec vs. 53.5±10.7 msec, respectively; P<0.001). Left atrial volume was not different between the groups on transthoracic echocardiography. CONCLUSION: PWD on echocardiography could be used as a clinical parameter in patients with NCS.
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PURPOSE: Recent reports showed that plasma N-terminal pro-brain natriuretic peptide (NT-proBNP) could be a useful biomarker of intravenous immunoglobulin (IVIG) unresponsiveness and coronary artery lesion (CAL) development in Kawasaki disease (KD). The levels of these peptides are critically influenced by age; hence, the normal range and upper limits for infants and children are different. We performed an age-adjusted analysis of plasma NT-proBNP level to validate its clinical use in the diagnosis of KD. METHODS: The data of 131 patients with KD were retrospectively analyzed. The patients were divided into 2 groups-group I (high NT-proBNP group) and group II (normal NT-proBNP group)-comprising patients with NT-proBNP concentrations higher and lower than the 95th percentile of the reference value, respectively. We compared the laboratory data, responsiveness to IVIG, and the risk of CAL in both groups. RESULTS: Group I showed significantly higher white blood cell count, absolute neutrophil count, C-reactive protein level, aspartate aminotransferase level, and troponin-I level than group II (P<0.05). The risk of CAL was also significantly higher in group I (odds ratio, 5.78; P=0.012). IVIG unresponsiveness in group I was three times that in group II (odds ratio, 3.35; P= 0.005). CONCLUSION: Age-adjusted analysis of plasma NT-proBNP level could be helpful in predicting IVIG unresponsiveness and risk of CAL development in patients with KD.
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PURPOSE: We performed to reveal the association between the Helicobacter pylori infection and body weight among children. METHODS: Out retrospective study included patients who underwent the H. pylori immunoglobulin G testing at Konyang University Hospital between March 2011 and June 2014. These patients were classified as seropositive (28 boys, 27 girls; mean age: 9.89±3.28 years) or seronegative (55 boys, 54 girls; mean age: 9.84±3.02 years). Next, we compared various characteristics between the seropositive and negative groups, as well as between obese children (body weight ≥90th percentile) and non-obese children (body weight <90th percentile). Furthermore, we compared the change in body weight after 2 months of treatment with amoxicillin, clarithromycin and omeprazole among the 55 seropositive children (14 treated children and 41 non-treated children). RESULTS: There were no differences in the weights and laboratory data for the 55 seropositive children and 109 seronegative children (weight; 40.96±18.11 kg vs. 36.85±13.72 kg, respectively; p=0.14). And, there was no difference in the prevalence of H. pylori infection among the 29 obese and 135 non-obese children (p=0.581). However, after 2 months of eradication, the 14 treated patients exhibited a significant weight gain (+0.91±0.52 kg), compared to the 41 non-treated patients (-0.29±1.16 kg, p=0.025). CONCLUSION: Our findings present that obesity was not associated with the H. pylori infection, although H. pylori eradication led to significant increase in body weight.