• Journal of Genetic Medicine
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• v.16 no.1
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• pp.1-9
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• 2019

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.

• Journal of the Korean Society of Food Culture
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• v.5 no.2
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• pp.217-228
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• 1990

An ecological study of food and nutrition was conducted among 198 children, 6 to 12 years old, of the Songmyun elementary school and Samsong elementary school, located in remote villages of Chungchun-myun, Goisan-gun, Chung Buk Province between July 11 and 16, 1988. The results were summarized as follows. In regard to frequency of skipping breakfast, 3.3% of subjects skipped every morning; 15% often skipped; and the others never skipped. The most common reason for skipping a meal was lack of appetite. 6.6% of subjects often skipped an evening meal because of delayed meal preparation by a mother who returned home late. The survey found that 5.1% of subjects skipped a lunch at school. The reasons for skipping lunch were the mother’s being too busy to prepare a boxed lunch; a school bag too heavy to carry for a long distance to school; no adequate side-dishes for the boxed lunch. Growth patterns of those children having poor food habits, were reflected in lower figures in arm circumference and weight for height. The percentage of children having meals with their family on weekdays was 84.7% for breakfast; 85.6% for evening meal. About 7% of subjects had many dislikes and 74.1% had some dislikes in what they ate; 18.9% had good food preferences. There was a strong correlation between appetite or food preferences and anthropometric measurements or nutrient intake. Boiled rice was the predominant dietary staple, and principal sources of protein taken by subjects at home were soy beans and soy products. Regarding the boxed lunch prepared at home, most popular was one with only one kind of side-dish, including kimchee. 43.4% of the side-dishes were prepared with vegetables only. As for between meal snacks, milk and milk products, fruits and breads were popular among the subjects. The survey found that the children liked fruits, yogurt, corn, Chajang noodle; in contrast, lowest preference was for soup made with bones, curried meat with rice, and aromatic vegetables. The survey discovered a local dietary characteristics; 46.2% of the children customarily ate frog meat, an unconventional food.

• Clinical and Experimental Pediatrics
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• v.57 no.3
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Clinical and Experimental Pediatrics
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• v.58 no.7
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• pp.256-262
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• 2015

Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

• Clinical and Experimental Pediatrics
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• v.46 no.12
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• pp.1260-1265
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• 2003

Purpose : In 1970, the Berlin-Frankfurt-Munster(BFM) group introduced an intensification therapy after remission induction to reduce relapse of acute lymphoblastic leukemia(ALL) in childhood. Delayed intensification(DI) phase has been included for treatment of ALL in our hospital since the mid-1990s. The purpose of this study is to evaluate the outcome with vs. without DI phase and the outcome with two vs. one DI phase for intermediate risk patients. Methods : One hundred and thirty nine children with ALL who were treated at the Department of Pediatrics of Wonju Christian Hospital and Yonsei University Medical Center between March, 1990 and July, 2002 were analysed retrospectively. Results : Thirty-eight patients were treated with a DI phase, and 101 patients were treated without a DI phase. Among the DI patients, seven patients were treated with a double DI phase. Five-year overall survival(OS) in the low, intermediate, and high risk groups were 68%, 66% and 58%, respectively. 5-year OS in DDI, DI, and control were 95%, 86% and 40%, respectively. In the low risk group, 5-year event free survival(EFS) in DI, and control were 94% and 58%, respectively. Conclusion : Delayed intensification improved EFS on childhood ALL in all risk groups.

• Clinical and Experimental Pediatrics
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• v.54 no.1
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• pp.6-10
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• 2011

Many patients assume that allergic reactions against foods are responsible for triggering or worsening their allergic symptoms. Therefore, it is important to identify patients who would benefit from an elimination diet, while avoiding unnecessary dietary restrictions. The diagnosis of food allergy depends on the thorough review of the patients's medical history, results of supplemented trials of dietary elimination, and in vivo and in vitro tests for measuring specific IgE levels. However, in some cases the reliability of such procedures is suboptimal. Oral food challenges are procedures employed for making an accurate diagnosis of immediate and occasionally delayed adverse reactions to foods. The timing and type of the challenge, preparation of patients, foods to be tested, and dosing schedule should be determined on the basis of the patient's history, age, and experience. Although double-blind, placebo-controlled food challenges(DBPCFC) are used to establish definitively if a food is the cause of adverse reactions, they are time-consuming, expensive and troublesome for physician and patients. In practice, An open challenge controlled by trained personnel is sufficient especially in infants and young children. The interpretation of the results and follow-up after a challenge are also important. Since theses challenges are relatively safe and informative, controlled oral food challenges could become the measure of choice in children.

• Childhood Kidney Diseases
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• v.18 no.2
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• pp.116-122
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• 2014

Renal and perinephric abscesses are a rare but potentially fatal complication of urinary tract infection (UTI). Diagnosing renal and perinephric abscesses has been known to be difficult. These abscesses may occur when the appropriate antibiotic treatment for a UTI is delayed, or in cases with a congenital malformation of the urinary system, especially in children. In the present report, we describe 2 cases of renal abscesses with extra-capsular invasion in children with febrile UTI. A 4-month-old male infant with vesicoureteral reflux developed a renal abscess that infiltrated the perinephric area and the left psoas muscle, despite early antibiotic treatment. A 9-year-old boy with prolonged fever also showed a multi-loculated renal abscess that infiltrated the spleen and diaphragm. Both patients were successfully treated with appropriate antibiotics and percutaneous drainage.

• Journal of the Korean earth science society
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• v.22 no.4
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• pp.268-277
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• 2001

This study was to investigate the preconception and phases of children's conceptual change about season through an instruction on the concept. Participants in the study were seventy-eight fifth graders in two classrooms of an elementary school located in Incheon city. Children's preconception was examined using a questionnaire, consisted of a drawing and literal explanation. The questionnaire also was used at the midterm-test, post-test, and one-week delayed-test. The results shows several findings as follows: some children (a) change their synthetic conceptions to form another synthetic conceptions through the instruction; (b) exhibit that their conceptions are unstable; and (c) are mainly influenced by distance and heating effect on the seasonal spatial distribution between the Earth and the Sun, and by the Earth's rotation on the seasonal change of constellations in acquiring the scientific concepts.

• Childhood Kidney Diseases
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• v.24 no.2
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• pp.131-137
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• 2020

Nephrogenic diabetes insipidus (DI) is a rare disease in which the patient cannot concentrate urine despite appropriate or high secretion of antidiuretic hormone. Congenital nephrogenic DI is caused by the arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2) gene mutation; the AVPR2 genetic mutation accounts for 90% of the cases. National health screening for infants and children was launched in 2007 in order to prevent accidents and promote public health in infants and children in Korea. The program has been widely used as a primary clinical service in Korea. We treated an infant with faltering growth and delayed development detected by the National health screening program, and diagnosed the problem as nephrogenic DI caused by a rare missense mutation of c.490T>C on the AVPR2 gene. This case can be a good educational nephrogenic DI with a rare AVPR2 mutation, which was well screened and traced by the national health screening program for infants and children in Korea.

• Korean Journal of Audiology
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• v.24 no.2
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• pp.71-78
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• 2020

Background and Objectives: Currently limited information is available on speech stimuli processing at the subcortical level in the recipients of cochlear implant (CI). Speech processing in the brainstem level is measured using speech-auditory brainstem response (S-ABR). The purpose of the present study was to measure the S-ABR components in the sound-field presentation in CI recipients, and compare with normal hearing (NH) children. Subjects and Methods: In this descriptive-analytical study, participants were divided in two groups: patients with CIs; and NH group. The CI group consisted of 20 prelingual hearing impairment children (mean age=8.90±0.79 years), with ipsilateral CIs (right side). The control group consisted of 20 healthy NH children, with comparable age and sex distribution. The S-ABR was evoked by the 40-ms synthesized /da/ syllable stimulus that was indicated in the sound-field presentation. Results: Sound-field S-ABR measured in the CI recipients indicated statistically significant delayed latencies, than in the NH group. In addition, these results demonstrated that the frequency following response peak amplitude was significantly higher in CI recipients, than in the NH counterparts (p<0.05). Finally, the neural phase locking were significantly lower in CI recipients (p<0.05). Conclusions: The findings of sound-field S-ABR demonstrated that CI recipients have neural encoding deficits in temporal and spectral domains at the brainstem level; therefore, the sound-field S-ABR can be considered an efficient clinical procedure to assess the speech process in CI recipients.