• Journal of Radiation Protection and Research
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• v.17 no.1
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• pp.21-30
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• 1992

The frequencies of KCCH cyclotron neutron (30 cGy/min) or $^{60}Co\;{\gamma}-rays$ (210 cGy/min)-induced asymmetrical interchanges (dicentrics and centric rings) and acentric fragments (deletion) at several doses were measured in the normal human peripheral blood lymphocytes Chromosome aberrations were scored at the first nitosis after stimulation with phytohemagglutinin. The neutron and y-ray data were analysed on linear, power-law, quadratic and linear-quadratic model . When the dicentrics and centric rings of ${\gamma}-rays$ datas were pooled and fitted to these model, good fits were obtained to power-law $[Y=(5.81{\pm}1.96){\times}10^6D^{1.93+0.06},\; P=0.931]$, quadratic $[Y=(3.91{\pm}0.09){\times}10^{-6}D^2,\;P=0.972]$ an linear-Quadrati model $[Y=(6.55{\pm}6.83){\times}10^{-5}D+(3.72{\pm}0.22){\times}10^{-6}D^2\; P=0.922]$, except for linear model (P=0.067) As in the case of neutron data, the best fit was obtained to the linear model $(Y=(6.12{\pm}0.17){\times}10^{-3}\;D-0.22,\;P=0.987]$ and good fits were obtained to power-law$[Y=(5.36{\pm}3.02) {\times}10^{-4}D^{1.42+0.11},\; P=0.601]$ and linear-quadratic model$[Y=(2.43{\pm}0.70){\times}10^{-3}D+(1.21{\pm}0.39){\times}10^{-7}D^2$, \;P=0.415], except for quadratic model (P<0.005). The relative biological effectiveness (RBE) of neutron compared with y-ray was estimated by best fitting model. In the asymmetrical interchanges range between 0.1 and 1.5 per cell, the RBE was found to be $2.714{\pm}0.408$.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.80-85
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• 2017

Angelman syndrome is a rare disorder caused by deletion or inactivation of genes on the maternally inherited chromosome 15. This neurodevelopmental disorder is characterized by developmental and intellectual delay, speech impairment, sleep disturbance, seizures, motor dysfunction, and frequent laughing or smiling. Orofacial characteristics include a prominent mandible, large mouth, prominent cheeks, a tendency to rest the tongue between the dental arches, excessive drooling, and excessive chewing behavior. Patients with this syndrome usually require general anesthesia even in a simple operation, because of risk of perioperative seizure during dental procedure. This is a case report about dental treatment of a 3-year-old female patient with Angelman syndrome under general anesthesia. This case suggests that the dental treatment under general anesthesia can be considered a safe component for the uncooperative, delayed developmental patients with underlying disease. Also, periodic dental exam appointment should be made to provide the patients with preventive treatments and to make them remain familiar with the dental environment.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.341-347
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• 2003

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).

• Journal of the Korean Institute of Illuminating and Electrical Installation Engineers
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• v.14 no.3
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• pp.68-76
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• 2000

The stabilization control of Inverted Pendulum(IP) system is difficult because of its nonlinearity and structural unstability. Futhermore, a series of conventional techniques such as the pole placement and the optimal control based on the local linearizations have narrow stabilizable regions. At the same time, the fine tunings of their gain parameters are also troublesome. Thus, in this paper, an Evolving Neural Network Controller(ENNC) which its structure and its connection weights are optimized simultaneously by Real Variable Elitist Genetic Algorithm(RVEGA) was presented for stabilization of an IP system with nonlinearity. This proposed ENNC was described by a simple genetic chromosome. And the deletion of neuron, the according to the various flag types. Therefore, the connection weights, its structure and the neuron types in the given ENNC can be optimized by the proposed evolution strategy. And the proposed ENNC was implemented successfully on the ADA-2310 data acquisition board and the 80586 microprocessor in order to stabilize the IP system. Through the simulation and experimental results, we showed that the finally acquired optimal ENNC was very useful in the stabilization control of IP system.

• Journal of the korean academy of Pediatric Dentistry
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• v.43 no.3
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• pp.313-319
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• 2016

Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.53-57
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• 1998

Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

• Journal of Life Science
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• v.30 no.8
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• pp.708-712
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• 2020

Vacuolar protein sorting (VPS) 26b is a newly discovered member of the retromer complex; it is encoded by a single-copy gene located on mouse chromosome 9, and the complex has been reported as being composed of proteins VPS26, VPS29, and VPS35. We have previously shown that mice lacking VPS26b exhibited no significant body size or health issues. Although retromer components are widely expressed in mouse tissue, their roles have not yet been completely elucidated. The current study investigates whether the VPS26b-associated retromer complex can be used as a neurodegeneration model. Previously, we observed a significant reduction in VPS35 and VPS29 in the brain cells of in VPS26b-deficient mice as well as an absence of the VPS26b-VPS29-VPS35 retromer complex despite the normal presence of VPS26a-VPS29-VPS35. Recent studies have suggested that low levels of VPS35 can lead to Alzheimer's disease-like phenotypes including cognitive memory deficits. In this study, we successfully demonstrate an association between the absence of the VPS26b-VPS29-VPS35 retromer complex, reduced cell density in the CA3 region of the hippocampus, and learning disability in VPS26b knock-out mice. The results also indicate that the VPS26b-associated retromer complex affects neurodegenerative disorders and learning processes.

• BMB Reports
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• v.38 no.4
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• pp.500-506
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• 2005

HOX11 encodes a homeodomain-containing transcription factor which directs the development of the spleen during embryogenesis. While HOX11 expression is normally silenced through an unknown mechanism in all tissues by adulthood, the deregulation of HOX11 expression is associated with leukemia, such as T-cell acute lymphoblastic leukemia. The elucidation of regulatory elements contributing to the molecular mechanism underlying the regulation of HOX11 gene expression is of great importance. Previous reports of HOX11 regulatory elements mainly focused on the 5'-flanking region of HOX11 on the chromosome related to transcriptional control. To expand the search of putative cis-elements involved in HOX11 regulation at the post-transcriptional level, we analyzed HOX11 mRNA 3'-untranslated region (3'UTR) and found an AU-rich region. To characterize this AU-rich region, in vitro analysis of HOX11 mRNA 3'UTR was performed with human RNA-binding protein HuR, which interacts with AU-rich element (ARE) existing in the 3'UTR of many growth factors' and cytokines' mRNAs. Our results showed that the HOX11 mRNA 3'UTR can specifically bind with human HuR protein in vitro. This specific binding could be competed effectively by typical ARE containing RNA. After the deletion of the AU-rich region present in the HOX11 mRNA 3'UTR, the interaction of HOX11 mRNA 3'UTR with HuR protein was abolished. These findings suggest that HOX11 mRNA 3'UTR contains cis-acting element which shares similarity in the action pattern with RE-HuR interactions and may involve in the post-transcriptional regulation of the HOX11 gene.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.4
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• pp.1999-2006
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• 2016

Background: Acute promyelocytic leukemia (APML) is characterized by the reciprocal translocation t(15;17) (p22;p12) resulting in the PML-$RAR{\alpha}$ fusion gene. A dual diagnostic and follow up approach was applied including cytogenetic demonstration of the t(15;17) translocation and detection dg PML-$RAR{\alpha}$ chimeric transcripts by molecular means. Purpose: Conventional cytogenetics involving bone marrow is beset with high probability of poor metaphase index and was substituted with phytohemagglutinin (PHA)-induced peripheral blood culture based cytogenetic analysis as a diagnostic & follow up modality in APML patients of Kashmir (North India). Both qualitative (RT-PCR) and quantitative (Q-PCR) tests were simultaneously carried out to authenticte the modified cytogenetics. Materials and Method: Patient samples were subjected to the said techniques to establish their baseline as well as follow-up status. Results: Initial cytogenetics revealed 30 patients (81%) Positive for t(15;17) whereas 7 (19%) had either cryptic translocation or were negative for t(15;17). Two cases had chromosome 16q deletion and no hallmark translocation t(15;17). Q-PCR status for PML-$RAR{\alpha}$ was found to be positive for all patients. All the APML patients were reassessed at the end of consolidation phase and during maintenance phase of chemotherapy where 6 patients had molecular relapse, wherein 4 also demonstrated cytogenetic relapse. Conclusions: It was found that PHA-induced peripheral blood cytogenetics along with molecular analysis could prove a reliable modality in the diagnosis and assessment of follow up response of APML patients.

• BMB Reports
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• v.43 no.3
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• pp.193-198
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• 2010

In this study, we report the identification and characterization of a novel C2H2 zinc finger protein, ZNF552, from a human embryonic heart cDNA library. ZNF552 is composed of three exons and two introns and maps to chromosome 19q13.43. The cDNA of ZNF552 is 2.3 kb, encoding 407 amino acids with an amino-terminal KRAB domain and seven carboxyl-terminal C2H2 zinc finger motifs in the nucleus and cytoplasm. Northern blotting analysis indicated that a 2.3 kb transcript specific for ZNF552 was expressed in liver, lung, spleen, testis and kidney, especially with a higher level in the lung and testis in human adult tissues. Reporter gene assays showed that ZNF552 was a transcriptional repressor, and overexpression of ZNF552 in the COS-7 cells inhibited the transcriptional activities of AP-1 and SRE, which could be relieved through RNAi analysis. Deletion studies showed that the KRAB domain of ZNF552 may be involved in this inhibition.