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1.
Journal of Korean Medical Science ; : e304-2023.
Article in English | WPRIM | ID: wpr-1001189

ABSTRACT

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 longterm 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.

2.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 240-250, 2022.
Article in English | WPRIM | ID: wpr-926877

ABSTRACT

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.

3.
Neonatal Medicine ; : 99-107, 2021.
Article in English | WPRIM | ID: wpr-902818

ABSTRACT

Purpose@#Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare. Therefore, we evaluated the characteristics of deaths associated with congenital anomalies among children born in Korea who died within 5 years of age. @*Methods@#Birth-to-death cohort linked data of children under the age of 5 years from 2010 to 2013, and statistical data on the cause of death by age from 1999 to 2019, both provided by the Korea National Statistical Office's Microdata Integrated Service, were retrospectively investigated. We investigated the trends and characteristics of mortality associated with congenital anomalies. @*Results@#Among 1,858,945 children, 6,510 children who died were under 5 years of age, and among them, 1,229 deaths were associated with congenital anomalies, while 5,281 deaths were due to other causes. Deaths associated with congenital anomalies accounted for 18.9% of all deaths. When comparing congenital anomalies by systems, anomalies of the cardiovascular system (52.6%) were the most common. The mortality rate associated with congenital anomalies and those of other causes showed similar declining trends in 21 years. @*Conclusion@#The mortality rate of congenital anomalies during the first 5 years of life did not increase differently from the prevalence of congenital anomalies but rather decreased. Deaths associated with congenital anomalies accounted for 20.5% of all infant deaths and 12.1% of child deaths, since the major causes of death in infants and children are slightly different, continuous and careful monitoring is required.

4.
Korean Journal of Dermatology ; : 284-289, 2021.
Article in English | WPRIM | ID: wpr-902011

ABSTRACT

Background@#Breast cancer is the second most common cancer and the most common cause of cancer deaths in Korean women. Although tumor-induced mediators and cancer therapy can suppress cell-mediated immunity, the concurrence of herpes zoster in breast cancer patients has not been well-recognized. @*Objective@#This study aimed to delineate the characteristics of herpes zoster in patients with breast cancer, particularly its association with patient age and breast cancer severity, treatment, and clinical course. @*Methods@#We retrospectively reviewed the medical records of breast cancer patients at a tertiary referral center in Korea from January 2003 to June 2018, identified patients with a subsequent diagnosis of herpes zoster, and analyzed their clinical characteristics. @*Results@#Among 8,124 patients with breast cancer, 2.04% further developed zoster during a median 31-month follow-up period. Age at the diagnosis of breast cancer was higher in the zoster group than in the no zoster group.Cytotoxic chemotherapy and radiotherapy significantly increased the risk of zoster. Time from the diagnosis of breast cancer to zoster development was significantly shorter for invasive cancers than for in-situ cancers, with higher risk in the initial 2 years from the cancer diagnosis. @*Conclusion@#This study showed that breast cancer patients are at an increased risk of zoster, particularly in the time following cancer diagnosis. Therefore, a recent diagnosis of breast cancer should warrant clinical suspicion of zoster for patients with suggestive symptoms, and active management should be started.

5.
Neonatal Medicine ; : 99-107, 2021.
Article in English | WPRIM | ID: wpr-895114

ABSTRACT

Purpose@#Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare. Therefore, we evaluated the characteristics of deaths associated with congenital anomalies among children born in Korea who died within 5 years of age. @*Methods@#Birth-to-death cohort linked data of children under the age of 5 years from 2010 to 2013, and statistical data on the cause of death by age from 1999 to 2019, both provided by the Korea National Statistical Office's Microdata Integrated Service, were retrospectively investigated. We investigated the trends and characteristics of mortality associated with congenital anomalies. @*Results@#Among 1,858,945 children, 6,510 children who died were under 5 years of age, and among them, 1,229 deaths were associated with congenital anomalies, while 5,281 deaths were due to other causes. Deaths associated with congenital anomalies accounted for 18.9% of all deaths. When comparing congenital anomalies by systems, anomalies of the cardiovascular system (52.6%) were the most common. The mortality rate associated with congenital anomalies and those of other causes showed similar declining trends in 21 years. @*Conclusion@#The mortality rate of congenital anomalies during the first 5 years of life did not increase differently from the prevalence of congenital anomalies but rather decreased. Deaths associated with congenital anomalies accounted for 20.5% of all infant deaths and 12.1% of child deaths, since the major causes of death in infants and children are slightly different, continuous and careful monitoring is required.

6.
Korean Journal of Dermatology ; : 284-289, 2021.
Article in English | WPRIM | ID: wpr-894307

ABSTRACT

Background@#Breast cancer is the second most common cancer and the most common cause of cancer deaths in Korean women. Although tumor-induced mediators and cancer therapy can suppress cell-mediated immunity, the concurrence of herpes zoster in breast cancer patients has not been well-recognized. @*Objective@#This study aimed to delineate the characteristics of herpes zoster in patients with breast cancer, particularly its association with patient age and breast cancer severity, treatment, and clinical course. @*Methods@#We retrospectively reviewed the medical records of breast cancer patients at a tertiary referral center in Korea from January 2003 to June 2018, identified patients with a subsequent diagnosis of herpes zoster, and analyzed their clinical characteristics. @*Results@#Among 8,124 patients with breast cancer, 2.04% further developed zoster during a median 31-month follow-up period. Age at the diagnosis of breast cancer was higher in the zoster group than in the no zoster group.Cytotoxic chemotherapy and radiotherapy significantly increased the risk of zoster. Time from the diagnosis of breast cancer to zoster development was significantly shorter for invasive cancers than for in-situ cancers, with higher risk in the initial 2 years from the cancer diagnosis. @*Conclusion@#This study showed that breast cancer patients are at an increased risk of zoster, particularly in the time following cancer diagnosis. Therefore, a recent diagnosis of breast cancer should warrant clinical suspicion of zoster for patients with suggestive symptoms, and active management should be started.

7.
Neonatal Medicine ; : 207-213, 2020.
Article in English | WPRIM | ID: wpr-902803

ABSTRACT

14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing the diagnosis is often difficult, as the condition cannot be detected with routine chromosome analysis. In this report, we present a patient with intrauterine growth retardation, microcephaly, muscle weakness, seizures, and hypoplasia of the corpus callosum who underwent diagnostic tests, including karyotyping in the neonatal period without leading to a specific diagnosis. The patient was confirmed with a serious developmental disorder, and a chromosomal microarray analysis was performed at 8 months of age, revealing a 14q12q13.3 deletion. In this case, the condition was diagnosed in early infancy, in contrast to previously reported cases, and the patient had diverse and severe symptoms. Establishing the diagnosis of 14q12q13.3 deletion syndrome allows better management of patient care and genetic counseling for the parents.

8.
Neonatal Medicine ; : 65-72, 2020.
Article | WPRIM | ID: wpr-837017

ABSTRACT

Purpose@#To identify the recent status of the neonatologist and their workload in neonatal intensive care unit (NICU) in Korea. @*Methods@#On October 2018, a survey was conducted on the statistics of the workforce including the census of certified neonatologists, NICU beds, nursing staffing ratings, bed occupancy rate, annual admission of very low birth weight infant (VLBWI), infant acuity score of nursing, and the proportion of out-born patients. The level of neonatal care was self-rated. @*Results@#A total of 68 centers responded to the survey. An average number of cer tified neonatologists and the number of NICU beds per center was 1.9 (range, 0 to 5) and 23.1 (range, 0 to 30), respectively. Thirty-eight percent (n=26) of NICUs were being operated with only one (n=24) or no (n=2) certified neonatologist and only 19% (n=13) of NICUs had ≥3 neonatologists. The average ratio of NICU beds to neonatologists rated 13.4±6.2. The higher the level of neonatal care, the higher the number of tertiary referral hospitals, neonatologists, NICU volume, infant acuity scores of nursing, and annual VLBWI admissions. However, there was no difference in the beds to neonatologist ratio between level 2 (n=9, 9.5±3.1), level 3 (n=44, 14.0± 6.9), and level 4 (n=14, 13.7±4.2). The infant acuity score was proportional to the NICU volumes, but not related to the beds to neonatologist ratio. @*Conclusion@#Compared with the international standards, most Korean NICUs were understaffed in terms of the certified neonatologist and were unable to provide ‘continuity of care’ for high-risk newborns.

9.
Journal of Korean Medical Science ; : e340-2020.
Article | WPRIM | ID: wpr-831706

ABSTRACT

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.

10.
Neonatal Medicine ; : 207-213, 2020.
Article in English | WPRIM | ID: wpr-895099

ABSTRACT

14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing the diagnosis is often difficult, as the condition cannot be detected with routine chromosome analysis. In this report, we present a patient with intrauterine growth retardation, microcephaly, muscle weakness, seizures, and hypoplasia of the corpus callosum who underwent diagnostic tests, including karyotyping in the neonatal period without leading to a specific diagnosis. The patient was confirmed with a serious developmental disorder, and a chromosomal microarray analysis was performed at 8 months of age, revealing a 14q12q13.3 deletion. In this case, the condition was diagnosed in early infancy, in contrast to previously reported cases, and the patient had diverse and severe symptoms. Establishing the diagnosis of 14q12q13.3 deletion syndrome allows better management of patient care and genetic counseling for the parents.

11.
Journal of Korean Medical Science ; : e165-2019.
Article in English | WPRIM | ID: wpr-765000

ABSTRACT

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 95% percentile) (P 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.


Subject(s)
Adult , Child , Humans , Alanine Transaminase , Aspartate Aminotransferases , Body Mass Index , Diagnosis , Elasticity Imaging Techniques , Fatty Liver , Fibrosis , Homeostasis , Hypertension , Insulin Resistance , Liver Cirrhosis , Liver , Methods , Non-alcoholic Fatty Liver Disease , Obesity, Abdominal , Transferases
12.
Pediatric Gastroenterology, Hepatology & Nutrition ; : 613-618, 2019.
Article in English | WPRIM | ID: wpr-760877

ABSTRACT

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.


Subject(s)
Child , Female , Humans , Anemia , Colon, Sigmoid , Colon, Transverse , Colonoscopy , Hamartoma , Hemorrhage , Hypovolemia , Polyps , Rectum , Shock
13.
Neonatal Medicine ; : 111-116, 2019.
Article in English | WPRIM | ID: wpr-760575

ABSTRACT

Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH or in premature infants, and its clinical presentation varies. In our case, a premature infant with no family history of thyroid diseases had a thyroid stimulating hormone level of 85.0 µIU/mL and free thyroxine level of 1.64 ng/dL on a thyroid function test. The patient also presented with clinical signs of hypothyroidism, including difficulties in feeding and weight gain. The patient was treated with levothyroxine; however, only free thyroxine and triiodothyronine levels increased without a decrease in thyroid-stimulating hormone levels. Taken together with thyroid gland hypertrophy observed on a previous ultrasound examination, RTH was suspected and the diagnosis was eventually made based on a genetic test. A de novo mutation in the thyroid hormone receptor β gene in the infant was found that has not been previously reported. Other symptoms included tachycardia and pulmonary hypertension, but gradual improvement in the symptoms was observed after liothyronine administration. This report describes a case involving a premature infant with RTH and a de novo mutation, with no family history of thyroid disease.


Subject(s)
Humans , Infant , Infant, Newborn , Diagnosis , Goiter , Hypertension, Pulmonary , Hypertrophy , Hypothyroidism , Infant, Premature , Receptors, Thyroid Hormone , Tachycardia , Thyroid Diseases , Thyroid Function Tests , Thyroid Gland , Thyroid Hormone Receptors beta , Thyroid Hormone Resistance Syndrome , Thyrotropin , Thyroxine , Triiodothyronine , Ultrasonography , Weight Gain
14.
Korean Journal of Pediatrics ; : 392-396, 2018.
Article in English | WPRIM | ID: wpr-718503

ABSTRACT

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.


Subject(s)
Child , Humans , Airway Obstruction , Apnea , Dichlorodiphenyldichloroethane , Echocardiography , Echocardiography, Doppler , Follow-Up Studies , Hypertrophy , Pulmonary Artery , Reference Values , Sleep Apnea, Obstructive , Tricuspid Valve Insufficiency , Vasoconstriction , Ventricular Function, Right
15.
Korean Journal of Pediatrics ; : 84-89, 2018.
Article in English | WPRIM | ID: wpr-713556

ABSTRACT

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.


Subject(s)
Child , Humans , Bacteria , Bacterial Infections , C-Reactive Protein , Campylobacter Infections , Campylobacter , Clostridium perfringens , Diarrhea , Enteritis , Enterocolitis , Hematologic Tests , Length of Stay , Multiplex Polymerase Chain Reaction , Pediatrics , Salmonella , Sensitivity and Specificity
16.
Yonsei Medical Journal ; : 431-437, 2018.
Article in English | WPRIM | ID: wpr-714666

ABSTRACT

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.


Subject(s)
Humans , Epilepsy , Intellectual Disability
17.
Neonatal Medicine ; : 134-139, 2017.
Article in English | WPRIM | ID: wpr-44061

ABSTRACT

Neonatal gastrointestinal mucormycosis, a rare disease with a high mortality rate, shows a rapid progressive course in premature infants with an immature immune system. We report the case of a male neonate weighing 970 g, delivered via cesarean section at 27 weeks, as one of a pair of dizygotic twins. From the 7(th) day after birth, bile was seen to drain through the orogastric tube, and paralytic ileus was noted on performing an abdominal X-ray. Thus, oral feeding was discontinued because necrotizing enterocolitis (NEC) was highly suspected. On the 9(th) day after birth, a firm mass was palpable in left upper abdominal quadrant, but no pneumatosis intestinalis was observed on performing abdominal X-ray. Small bowel intussusception was suspected on performing abdominal ultrasonography. Based on these findings, an exploratory laparotomy was performed, and although no intussusception was found intraoperatively, we performed a partial gastrectomy and hemicolectomy due to the presence of necrotic changes and perforations of the stomach and colon. Postoperatively, he was observed to have hypotension with persistence of hemorrhage at the surgical site. He died on the 11(th) day after birth. Intraoperative histopathological examination of stomach and colon showed fungal aseptate hyphae with broad branching. Gastrointestinal mucormycosis was confirmed based on findings of vascular involvement in the form of fungal hyphae and thrombosis in the transmural blood vessels. We report a case of an extremely low birth weight infant with neonatal gastrointestinal mucormycosis with an initial clinical presentation suggestive of intussusception and atypical NEC.


Subject(s)
Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Bile , Blood Vessels , Candida , Cesarean Section , Colon , Enterocolitis, Necrotizing , Fungi , Gastrectomy , Hemorrhage , Hyphae , Hypotension , Immune System , Infant, Extremely Low Birth Weight , Infant, Low Birth Weight , Infant, Premature , Intestinal Pseudo-Obstruction , Intussusception , Laparotomy , Mortality , Mucormycosis , Parturition , Rare Diseases , Stomach , Thrombosis , Twins, Dizygotic , Ultrasonography
18.
Neonatal Medicine ; : 62-70, 2017.
Article in English | WPRIM | ID: wpr-9703

ABSTRACT

PURPOSE: The purpose of this study is to compare birth outcomes based on maternal ethnicity in Korea. METHODS: Using the birth data of Statistics Korea from 2010 to 2015, this study selected data from infants with a Vietnamese mother and Korean father (Vietnamese/Korean group), and a Chinese mother and Korean father (Chinese/Korean group), to compare them with that of a Korean mother and Korean father (Korean/Korean group). The newborn infants' birth outcomes and parental characteristics were investigated, and trends in annual changes were compared. In addition, this study investigated whether the mother's ethnicity affected the mean birth weight. RESULTS: Gestational age and birth weight were highest in the Chinese/Korean group, and were slightly lower in the Korean/Korean and Vietnamese/Korean group, in that order. The highest rate of preterm birth before 37 weeks and low birth weight rate were observed in the Vietnamese/Korean group; 4.62% and 4.26%, respectively. From 2010 to 2015, the mean gestational age decreased in all the three groups, and the preterm birth rate increased at gestational ages less than 37 weeks. However, the birth weight decreased only in the Korean/Korean group, but increased in the Chinese/Korean and Vietnamese/Korean groups. In addition, we found that factors such as parents' educational levels, percentage of hospital births, and appropriate maternal age improved in the Vietnamese/Korean group. CONCLUSION: This study confirms that the mean birth weight and low birth weight rate are affected by maternal ethnicity in Korea. Therefore, careful research and active national support policies are needed.


Subject(s)
Humans , Infant , Infant, Newborn , Asian People , Birth Weight , Racial Groups , Cultural Diversity , Emigrants and Immigrants , Fathers , Gestational Age , Infant, Low Birth Weight , Korea , Maternal Age , Mothers , Parents , Parturition , Premature Birth
19.
Journal of Korean Medical Science ; : 1319-1326, 2017.
Article in English | WPRIM | ID: wpr-210871

ABSTRACT

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.


Subject(s)
Humans , Infant , Infant, Newborn , Pregnancy , Birth Rate , Delivery of Health Care , Fetal Death , Fetal Mortality , Infant Mortality , Japan , Korea , Live Birth , Maternal Age , Multiple Birth Offspring , Perinatal Care , Perinatal Mortality , Prenatal Care , Stillbirth , United States
20.
Journal of Korean Medical Science ; : 939-949, 2016.
Article in English | WPRIM | ID: wpr-34226

ABSTRACT

The Pediatric Growth Chart (2007) is used as a standard reference to evaluate weight and height percentiles of Korean children and adolescents. Although several previous studies provided a useful reference range of newborn birth weight (BW) by gestational age (GA), the BW reference analyzed by sex and plurality is not currently available. Therefore, we aimed to establish a national reference range of neonatal BW percentiles considering GA, sex, and plurality of newborns in Korea. The raw data of all newborns (470,171 in 2010, 471,265 in 2011, and 484,550 in 2012) were analyzed. Using the Korean Statistical Information Service data (2010-2012), smoothed percentile curves (3rd-97th) by GA were created using the lambda-mu-sigma method after exclusion and the data were distinguished by all live births, singleton births, and multiple births. In the entire cohort, male newborns were heavier than female newborns and singletons were heavier than twins. As GA increased, the difference in BW between singleton and multiples increased. Compared to the previous data published 10 years ago in Korea, the BW of newborns 22-23 gestational weeks old was increased, whereas that of others was smaller. Other countries' data were also compared and showed differences in BW of both singleton and multiple newborns. We expect this updated data to be utilized as a reference to improve clinical assessments of newborn growth.


Subject(s)
Female , Humans , Infant, Newborn , Male , Birth Weight , Gestational Age , Growth Charts , Reference Values , Republic of Korea
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