• Clinical and Experimental Pediatrics
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• v.61 no.7
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• pp.226-230
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• 2018

Purpose: This pilot study assessed changes in the growth plate and growth rates in children during a 6-month period. Methods: The study included 31 healthy children (17 boys, 14 girls) under evaluation for growth retardation. Height, weight, bone age, insulin like growth factor-1 (IGF-1), and insulin like growth factor binding protein 3 (IGF-BP3) were measured at baseline and after 6 months. In addition, the diameter, thickness, and volume of the femoral and tibial growth plates were measured using magnetic resonance imaging. Results: The mean bone age in boys and girls was 11.7 and 10.7 years, respectively. In boys, height (z score) (-0.2 vs. 0.0), weight (z score) (0.8 vs. 1.1), body mass index (BMI) (z score) (1.27 vs. 1.5), IGF-1 (ng/mL) (343.6 vs. 501.8), and IGF-BP3 (ng/mL) (5,088.5 vs. 5,620.0) were significantly higher after 6 months. In girls, height (z score) (-1.0 vs. -0.7), weight (z score) (-0.5 vs. 0.1), BMI (z score) (-0.02 vs. 0.3), IGF-1 (ng/mL) (329.3 vs. 524.6), and IGF-BP3 (ng/mL) (4,644.4 vs. 5,593.6) were also significantly higher after 6 months. In both sexes, the mean diameter and volume of the femoral and tibial growth plates were significantly increased 6 months later. Conclusion: No significant correlation was found between changes in the growth plate and clinical parameters in children with growth retardation in this study, other than correlations of change in femoral diameter with weight and BMI. A larger, long-term study is needed to precisely evaluate the correlation between change in the growth plate and growth.

• Clinical and Experimental Pediatrics
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• v.46 no.4
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• pp.397-399
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• 2003

All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.

• Clinical and Experimental Pediatrics
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• v.52 no.10
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• pp.1171-1174
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• 2009

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.4
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• pp.713-717
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• 2008

Albinism is a disease caused by partial or complete failure of melanin production in the skin, hair and eyes despite the presence of normal number, structure and distribution of melanocytes. Typical aspects are white-colored skin, blonde-brown hair, blue-brown irides and a prominent red reflex. Three main categories of albinism are oculocutaneous, ocular and localized albinism, and also they are divided into many subgroups. Therefore, appropriate treatment plan and dental direction would be differentiated according to them. This case report was about oral conditions and treatment of the oculocutaneous albinism patient with mental retardation who was refered due to developmental delay of teeth and treated with teeth extraction, restoration and space maintenance etc.

• Proceedings of the Korean Society of Plant Biotechnology Conference
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• 2005.11a
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• pp.9-21
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• 2005

To study the biochemical and physiological role of the plastidic glucose transporter (pGlcT) in carbohydrate metabolism, we characterized transgenic plants with mutations in the pGlcT gene (GT), gt-1 and gt-2, as well double mutants of GT and the maltose transporter (MEX1) and GT and the triose phosphate/phosphate translocator (TPT), GT and the cytosolic fructose-1,6-bisphosphatase gene (cFBP), and MEX1 and TPT, gt-1/mex2, gt-1/tpt-2, gt-1/cfbp-1, mex1-1/tpt-2, respectively. Compared to the wild type, all mutants except the gt-1/cfbp-1 mutant lines displayed higher starch accumulation and higher levels of maltose. Starch accumulation is due to a decrease in starch turnover, leading to an imbalance between the rates of synthesis and degradation. Sucrose levels of gt alleles were higher than those in wild-type plants during the light period, suggesting possible nightly supplementation via the maltose transport pathway to maintain proper carbohydrate partitioning in the plant leaves. The gt plants displayed less growth retardation than mex1-1 mutant and gt-1/mex2 double mutant displayed accumulativesevere growth retardation as compared to individual gt-1 and mex1-1 mutants, implying that the maltose transporter-mediated pathway is a major route for carbohydrate partitioning at night. The gt-1/tpt-2, mex1-1/tpt-2 and gt-1/cfbp-1 double mutants had retarded growth and low chlorophyll content to differing degrees, indicating that photosynthetic capacity had diminished. Interestingly, the gt-1/tpt-2 line displayed a glucose-insensitive phenotype and higher germination rates than wild type, suggesting its involvement not only in carbon partitioning, but also in the sugar signaling network of the pGlcT and TPT.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.3
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• pp.118-126
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• 2015

Background and objectives: A deficiency of BH4 (tetrahydrobiopterin) not only causes the classical phenylketonuric phenotype, but also is the source of neurological signs and symptoms due to impaired syntheses of L-Dopa and serotonin. The treatment of BH4 deficiency usually consists of replacement with BH4 and the neurotransmitters. We performed this study to finding out long-term follow-up clinical symptoms and prognosis of BH4 deficiency. Methods: Clinical and biochemical, genetic analysis were done retrospectively from January 1999 to July 2015 in Soonchunhyang University Hospital. Results: In our study, total 207 patients were confirmed to hyperphenylalaninemia. Among them, 10 patients were BH4 deficiency. 9 patients were 6-pyruvoyl-tetrahydropterin (PTPS) deficiency and one patient was dihydropteridine reductase (DHPR) deficiency. The patients who received delayed treatment, most of our patients suffered from severe psychomotor retardation, hypotonia and seizure. c.259C>T mutation was identified most commonly in PTPS gene analysis. A patient with DHPR deficiency had a mental retardation, dystonia, seizure. His seizure semiology was dialeptic feature. His EEG showed generalized spike wave patterns. All patients had treated with tolerate L-Dopa, BH4 and 5-hydroxytryptophan. Most of the early treated patients have a good tolerance for drugs well. But some patients had neurologic symptoms, despite early detection and treatment. Conclusion: BH4 deficiency patients who had delayed treatment tend to have severe psychomotor problem and neurologic deficits.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.60-65
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease caused by a defect in cholesterol biosynthesis. This mutation encodes 7-dehydrocholesterol reductase (DHCR7), which is located on chromosome 11q13. It is characterized by typical facial appearances, microcephaly, small up-turned nose, cleft palate, syndactyly, and is correlated with cardiac, gastrointestinal and genital malformations. There may also be mental retardation, behavioral problems and growth retardation. It causes a broad spectrum of effects, ranging from a mild disorder of learning and behavior to a lethal malformation. There are four reports of Smith-Lemli-Opitz syndrome in Korean children. Here, we describe a two months old female with microcephaly, toe syndactyly and a cleft soft palate who was diagnosed as SLOS with c. 1054 C>T (p.R352W) and c.907G>A (p. G303R) mutations.

• Childhood Kidney Diseases
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• v.8 no.1
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• pp.57-62
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• 2004

Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.1
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• pp.124-129
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• 2010

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects, clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.

• Journal of Korean Society on Water Environment
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• v.38 no.1
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• pp.10-18
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• 2022

This study was conducted to investigate the effect of soil and groundwater environment changed by wildfire on cesium adsorption and transport. Soil samples (A, B) used in the study were collected from Gangwon-do, where wildfires frequently occur, and the adsorption and transport of cesium in the samples were evaluated through batch and column experiments. As a result of the batch adsorption experiments with various concentrations of cesium (C_W ≈ 10~10⁵ ㎍/L), the adsorption distribution coefficient (K_d) of cesium was higher in sample A for all observed concentrations. It means that the adsorption capacity of sample A was higher to that of sample B, which was also confirmed through the parameters of adsorption isotherm models (Freundlich and Langmuir model) applied to the experimental results. The fixed bed column experiments simulated the actual soil and groundwater environment, and they showed that cesium was retarded approximately 43 and 27 times than a nonreactive tracer in sample A and B, respectively. In particular, a significant retardation occurred in the sample A. Although sample A contains little clays, total organic carbon (TOC) contents were 3 times greater than sample B. These results imply that particulate organic matter caused by wildfire might influence the adsorption and transport of cesium in the organic matter-rich soil and groundwater environment.