• Archives of Plastic Surgery
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• v.42 no.3
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• pp.346-350
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• 2015

Brown syndrome is known as limited elevation of the affected eye during adduction. It is caused by a disorder of the superior oblique tendon, which makes it difficult for the eyeball to look upward, especially during adduction. It is classified into congenital true sheath Brown syndrome and acquired simulated Brown syndrome. Acquired simulated Brown syndrome can be caused by trauma, infection, or inflammatory conditions. The surgical restoration of blowout fractures can also lead to limitations of ocular motility, including Brown syndrome. We report on three patients with acquired simulated Brown syndrome, who complained of diplopia and limitation of ocular motility after operations to treat blowout fractures.

• Clinical and Experimental Pediatrics
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• v.65 no.2
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• pp.56-64
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• 2022

Cerebrospinal fluid (CSF) is a dynamic metabolically active body fluid that has many important roles and is commonly analyzed in pediatric patients, mainly to diagnose central nervous system infection and inflammation disorders. CSF components have been extensively evaluated as biomarkers of neurological disorders in adult patients. Circulating microRNAs in CSF are a promising class of biomarkers for various neurological diseases. Due to the complexity of pediatric neurological disorders and difficulty in acquiring CSF samples from pediatric patients, there are challenges in developing CSF biomarkers of pediatric neurological disorders. This review aimed to provide an overview of novel CSF biomarkers of seizure disorders, infection, inflammation, tumor, traumatic brain injuries, intraventricular hemorrhage, and congenital hydrocephalus exclusively observed in pediatric patients.

• Journal of Genetic Medicine
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• v.20 no.2
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• pp.70-74
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• 2023

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

• Korean Journal of Cleft Lip And Palate
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• v.7 no.2
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• pp.133-139
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• 2004

Congenital bilateral idiopathic hyperplasia of the coronoid processes presents with limited mouth-opening without visible maxillofacial deformity or temporomandibular joint dysfunction / disorder. According to Blanchard et al and McLoughlin et al, it was lnitially described in 1853 by Langenbeck, and the first cases were reported by Holmes in 1956. Since then, there have been regular reports of a certain number of cases. In 1995, McLoughlin et al recorded 79 published cases of bilateral hyperplasia of the coronoid processes. Among them, Fabie et al have found only 3 published cases relating to children younger than 8 years, and have presented the first case of objectively diagnosed restricted mouth opening from birth by pediatricians. Authors have experienced 2 child patients with mouth opening limitation who was diagnosed congenital bilateral idiopathic hyperplasia of the coronoid processes without any other TNJ morphology in Dept of Oral and Maxillofacial surgery, Seoul National University Dental Hospital in 2004. Coronoidectomy was performed and postoperative active mouth opening exercise is indicated. Authors report 2 cases of congenital bilateial idiopathic hypeiplasia of the coronoid processes with literature liview.

• Neonatal Medicine
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• v.25 no.4
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• pp.137-143
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• 2018

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.

• Journal of Practical Agriculture & Fisheries Research
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• v.21 no.2
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• pp.71-76
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• 2019

There have been no reports on the laboratory screening of congenital torticollis in equine medicine. The purpose of this study was to evaluate the blood chemistry of a newborn female foal with congenital torticollis. The filly was born after a normal parturition period, and the clinical pathology results were as follows: biochemistry of the plasma showed significantly higher levels of CK, LDH, and Na than those in a normal foal. However, Cl level was remarkably lower than that of the control. In conclusion, the cells in the neck muscles influenced the clinical pathological value in the neonate. A disorder of the muscles as well as the bone problem, such as the cervical vertebrae, may have caused congenital torticollis. To our knowledge, this is the first report detailing the clinical pathology results in a newborn foal with torticollis. These laboratory results can be used as a reference for interpretation of pathology results in foals.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.23 no.1
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• pp.31-35
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• 2012

Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.89-92
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• 2012

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

• Child Health Nursing Research
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• v.1 no.1
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• pp.26-36
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• 1995

Children with metabolic disorders suffer from retardation and cognitive dysfunction. The task of caring for a mother may mean that she has less time and mony and more workload which may result in increased fatigue and depression and low well-being. The burden carried by mother due to the responsiblity take care of child. The descriptive study was done identify the burden in mother of children with metabolic disorders. The data was collected from November 1 to November 16, 1993. nineteen mothers were interviewed with metabolic disorders with questionnaire by mail. Burden was measured using existing tools by Zarit (1980), Montgomery(1985) . et al. Burden data was analyzed by the SPSS /pc+ program were tested using means, frequencies, Mann-Whitney, U-Wilcoxon Rank Sum Test and Kruskal-Wallis one way ANOVA The result of this study as follows : The meas score for burden was 2.8. (range from 34 to 4.95) The result of reiationship of demographic character and burden was no significant. In conclusion it was found that burden is correlated negatively to quality of life. In this study, burden was scored relatively low. Further qualitative research is needed to validats the nature of burden.

• Journal of Korean Academy of Nursing
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• v.12 no.2
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• pp.31-44
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• 1982

The purpose of this study was to analyze the relationship between maternal attachment and discharge against advice in high risk infants and determine the factors which affect discharge against advice. Data of this study were collected by means of reviewing the medical records of 127 in-patients who were diagnosed as high risk infants in admission and interviewing of the mothers of these patients was done by telephone. The high risk categories were neonatal hyperbilirubinemia, congenital anomaly, congenital heart disease, blood disorder, neonatal infection and birth injury. Maternal attachment was measured by deviding the subjects into 2 groups, the one the continuing treatment group and the other the discharge against advice group. Maternal attachment is determined by an interplay of maternal attitude and specific infant behaviors. Maternal attachment developes through continuous physical and psychological contact between mother and infants. Later it developes into maternal love. The results were as follows: 1. There was a significant association between maternal attachment and discharge against advice, that is, the attachment score was higher in the continuing treatment group. 2. Inspite of controlling medical insurance, severity of disease and the length of stay, it was found that there continued to be either a partially significant or fully significant relationship between maternal attachment and discharge against advice. Stepwise multiple regression revealed that maternal attachment was second in importance as a predictor of discharge against advice, which indicates that maternal attachment was a significant predictor of discharge against advice. 3. Stepwise multiple regression revealed that in 32.3％ of these cases the significant predictors of discharge against advice were length of stay, maternal attachment, delivery type, feeding type and income.