Lee, Min Jin;Kim, Soo Hyun;Park, Hee Jin;Shim, Sung Han;Jang, Hee Yeon;Cha, Dong Hyun
Journal of Genetic Medicine
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v.17
no.2
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pp.68-72
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2020
Purpose: Trisomy 21, the cause of Down syndrome (DS) with various medical problems, is the most common aneuploidy during the fetal period. For diagnosis, a non-invasive screening test using maternal blood, which cannot be confirmed and invasive confirmation test with a risk of miscarriage, may be performed. The trophoblast retrieval and isolation of the cervix (TRIC) have been proposed by some researchers as an alternative to overcome the limitations of current tests. We experimented using TRIC to identify the possibility of trisomy 21 for the first time in Asia. Materials and Methods: Three cases of DS were analyzed confirmed by invasive tests (chorionic villus sampling, amniocentesis). All samples of trophoblasts immediately were immersed in phosphate-buffered saline and processed with formalin for fixation. The trophoblasts were isolated using an anti-human leukocyte antigen-G antibody coupled to magnetic nanoparticles. β-human chorionic gonadotropin (hCG)-expressing cells were considered as trophoblast cells, and the detection rate calculated. DS was confirmed by fluorescence in situ hybridization (FISH). Results: The mean trophoblast detection rate using β-hCG was 78.1%, and the detection rate using FISH was 22.2%. In all cases, the trisomy of chromosome 21 was identified. Conclusion: Trophoblast can be obtained from the five weeks of gestation and has a high detection rate, so it is noted that it can replace the current prenatal genetic test. To realize the clinical application as a prenatal genetic test, we will need additional efforts to identify trisomy 21 as well as other chromosomal abnormalities in future large-scale studies.
It was to establish the usage possibility as cosmetic material by testing stimulation of Leuconostoc mesenteroides which were cultured from human scalp's dead skin cell by patching it to the skin in the form of solubilized essence. Cultured L. mesenteroides diluted to 1% concentration and essence which contains it were patched to 31 and 32 participants' back each for 24 hours and established the stimulus figures by the specialists in 30 minutes, 24 hours, and 48 hours after they were taken off. They are both revealed as non-stimuli due to the result of 0.011 and 0 points each and therefore they are safe when used as skin products. Considering the results of this test and the other previous studies which reported the L. mesenteroides as anti-allergic, antioxidant, and anti-inflammatory, L. mesenteroides is usable for cosmetics and worth further research.
Islam, Sk Injamamul;Mou, Moslema Jahan;Sanjida, Saloa;Tariq, Muhammad;Nasir, Saad;Mahfuj, Sarower
Genomics & Informatics
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v.20
no.1
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pp.11.1-11.20
/
2022
Vibrio harveyi belongs to the Vibrio genus that causes vibriosis in marine and aquatic fish species through double-stranded DNA virus replication. In humans, around 12 Vibrio species can cause gastroenteritis (gastrointestinal illness). A large amount of virus particles can be found in the cytoplasm of infected cells, which may cause death. Despite these devastating complications, there is still no cure or vaccine for the virus. As a result, we used an immunoinformatics approach to develop a multi-epitope vaccine against most pathogenic hemolysin gene of V. harveyi. The immunodominant T- and B-cell epitopes were identified using the hemolysin protein. We developed a vaccine employing three possible epitopes: cytotoxic T-lymphocytes, helper T-lymphocytes, and linear B-lymphocyte epitopes, after thorough testing. The vaccine was developed to be antigenic, immunogenic, and non-allergenic, as well as having a better solubility. Molecular dynamics simulation revealed significant structural stiffness and binding stability. In addition, the immunological simulation generated by computer revealed that the vaccination might elicit immune reactions in the actual life after injection. Finally, using Escherichia coli K12 as a model, codon optimization yielded ideal GC content and a higher codon adaptation index value, which was then included in the cloning vector pET2+ (a). Altogether, our experiment implies that the proposed peptide vaccine might be a good option for vibriosis prophylaxis.
Yoo, Sukdong;Lee, Jun;Kim, Minji;Yoon, Ju Young;Cheon, Chong Kun
Journal of Genetic Medicine
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v.19
no.1
/
pp.32-37
/
2022
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.
The uterus, one of women's reproductive organs, is also closely related to women's health. Among them, hemorrhagic luteal cysts, one of the causes of pelvic pain that women often experience, were observed through CT and ultrasound, and the quality of images was evaluated through quantitative and qualitative evaluations. This study sought to find out whether the test method is more helpful to patients during CT and ultrasound. This study was conducted on 15 adolescent women and 15 adult women(21.31±3.45 average age). The equipment used for filming used EC3-10X (3~10 MHZ) and Philips Mx8000 iCT 256 among Endocavity Probes among Ecube Platinum. After setting a constant ROI on the cyst and the interface as a quantitative analysis method, SNR and CNR values were measured on a 5-point scale based on image quality, lesion clarity, image distortion, clarity of the interface, and motion artifacts (p<0.05). Independent t-test and Mann Whiteny U were performed, and the statistical program used was noted when SPSS (Version 22.0 for windows software package, Chicago, IL, USA) was statistically less than 0.05. Comparing the SNR and CNR values for this experiment, it can be seen that the SNR value was higher in the case of CT images(p<0.05). As a result of the qualitative evaluation, the quality of the image, the clarity of the lesion, the distortion of the image, the clarity of the interface, and the clarity of the boundary were measured on a 5-point scale based on the movement artifact. Comparing each score, CT images scored higher with a finer difference than ultrasound images(p<0.05). In conclusion, both test methods showed excellent results in finding the patient's lesions. However, in quantitative and qualitative evaluations, CT produced higher results in detecting lesions than ultrasound. However, for cyst tests that require continuous observation, ultrasonography, a non-invasive method that is advantageous for patients, will be clinically useful. Therefore, observing the patient's lesions by appropriately distributing these two test methods will provide optimal diagnostic information. These results will be useful for providing clinical basic data and educational materials to CT and US users in the future.
Kwak, Dong Wook;Kim, Hyun Jin;Park, So Yeon;Ahn, Hyun Suk;Chae, Yong Hwa;Kim, Moon Young;Lee, Young Ho;Ryu, Hyun Mee
Journal of Genetic Medicine
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v.10
no.1
/
pp.38-42
/
2013
Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.
Journal of Dental Rehabilitation and Applied Science
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v.30
no.2
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pp.112-120
/
2014
Purpose: This study compared the shear bond strength of heat pressed and feldspathic porcelain to metal. Through thermocycling, the clinical aspect of heat pressed porcelain fused metal was estimated. Materials and Methods: 90 non-precious metal specimens were made ($4{\times}4{\times}8 mm$) and divided to three groups. All spicimens were treated and built-up with the porcelain ($4{\times}4{\times}3 mm$) by 2 different methods according to group: Group I: $Inspiration^{(R)}$, Group II: Ivoclar, IPS $Inline^{(R)}PoM$, Group III: GC Initial IQ-One $Body^{(R)}PoM$. The half of each group's specimens were thermocycled. All specimens' shear bond strength were measured by Instron universal testing machine. Exact measuring point was far 1 mm from porcelain/metal interface to the porcelain side. For the statistical analysis, 2-way ANOVA was used. Results: In no-thermocycling specimens, the shear bond strength showed no statistical significance between each group (P > 0.05). In comparison between nothermocycling and thermocycling specimens in each group, the shear bond strength was decreased according to thermocycling, but there was no statistical significance (P > 0.05). In thermocycling specimens, there was no statistical significance between each group (P > 0.05). Conclusion: In feldspathic porcelain and other two types heat pressed porcelain, there was no statistical difference in the shear bond strength of porcelain to metal. The heat pressed porcelain seems to be clinically useful for the aspect of the shear bond strength.
It is well known that smoking as well as drinking is a factor of stomatopathy, however there are few investigations about comparison of oral flora between smokers and non-smokers. In this study, we isolated the oral flora of 30 smokers and 30 non-smokers and cultured them on blood agar plates. The isolated pathogenic microorganisms were tested for antibiotic susceptibility and resistance using the Kirby-Bauer antibiotic testing method. Each colony was stained using the Gram staining method and was identified by an automatic identifier, known as the VITEK system. We isolated 41 colonies from smokers' oral cavity, and they were sorted as 63% of Gram-positive cocci, 29% of Gram-negative cocci, 3% of Gram-positive bacilli, and 5% of Gram-negative bacilli by gram staining, whereas 38 colonies were isolated from non-smoters' oral cavity, and their proportions were 55% of Gram-positive cocci, 26% of Gram-negative cocci, 3% of Gram-positive bacilli, and 16% of Gram-negative bacilli. The VITEK system revealed specific distribution of bacteria species that Streptococcus mutans (6/41), Gemella morillorum (6/41), Streptococcus oralis (2/41), Streptococcus pneumoniae (1/41), Staphylococcus aureus (3/41), Streptococcus anginosus (1/41), Streptococcus intermedius (1/41), Streptococcus uberis (1/41), and Streptococcus sanguinis (1/41) in smokers oral cavity whereas Streptococcus sanguinis (8/38), Staphylococcus aureus (1/38), Staphylococcus auricularis (1/38), Streptococcus uberis (1/38), Streptococcus intermedius (1/38), Streptococcus mutans (1/38), and Streptococcus oralis (1/38) in those of non-smokers'. Three cases of Staphylococcus aureus from smokers produced Beta-lactamase and were identified methicillin-resistance Staphylococcus aureus (MRSA). However one case of Staphylococcus aureus from non-smoker did not produce Beta-lactamase and was sensitive to methicillin. In conclusion, the distribution of oral flora was different between smokers' and non-smokers' oral cavity, especially Gemella morillorum and MRSA were predominantly found in smoker's oral cavity. These results are useful in the treatment and prevention of patients with stomatopathy caused by smoking.
Purpose: The aim of this study was to evaluate the shear bond strength between Ni-Cr alloy and composite resin using universal adhesive systems coMPared to conventional method using metal primers. Materials and methods: For this study, a total of 120 cast commercial Ni-Cr alloy (Vera Bond 2V) disks were embedded in acrylic resin, and their surfaces were smoothed with silicon carbide papers and airborne-particle abrasion. Specimens of each metal were divided into 6 groups based on the combination of metal primers (Metal primer II, Alloy primer, Metal & Zirconia primer, MKZ primer) and universal adhesive systems (Single Bond Universal, All Bond Universal). All specimens were stored in distilled water at $37^{\circ}C$ for 24 hours. Shear bond strength testing was performed with a universal testing machine at a cross head speed of 1 m/min. Data (MPa) were analyzed using one-way ANOVA and the post hoc Tukey's multiple comparison test (${\alpha}$=.05). Results: There were significant differences between Single Bond Universal, All Bond Universal, Metal Primer II and Alloy Primer, MKZ Primer, Metal & Zirconia Primer (P<.001). Conclusion: Universal Adhesive system groups indicated high shear bond strength value bonded to Ni-Cr alloy than that of conventional system groups using primers except Metal Primer II. Within the limitations of this study, improvement of universal adhesive systems which can be applied to all types of restorations is recommended especially non-precious metal alloy. More research is needed to evaluate the effect of silane inclusion or exclusion in universal adhesive systems.
Statement of problem: Injuries along with discomfort may result on the oral mucosa when non-rigid material is used as the major connector in construction of RPD, since nonrigid major connectors transmit unstable forces throughout the appliance. Titanium which recently draws attention as a substitute of Co-Cr had a difficulty in fabricating due to high melting temperature but the development of casting technique makes it possible to apply to the clinical case. Purpose: The purpose of this study was to investigate the rigidity and the castability of titanium upper major connector by design and make a comparison with Co-Cr major connectors which are widely used in clinical cases now. Material and methods: Casting was done using CP-Ti(Grage 2) (Kobe still Co., Japan) for the experimental groups, and 4 various designs namely palatal strap, U-shaped bar, A-P strap, and complete palatal plate were casted and 5 of each designs were included in each group. For the experimental group, Universal testing machine (Model 4502; Instron, Canton, Mass) was used to apply vertical torsional force vertically to the horizontal plane of major connector. In the second experiment, Vertical compressive force was applied to the horizontal plane of major connector. As a comparative group, Co-Cr major connector was equally manufactured and underwent the same experimental procedures Strain rate was measured after constant loading for one minute duration, and statistical analysis was done with SPSS ver.10.0 for WIN(SPSS. Inc. USA). From the one-way ANOVA and variance analysis (P=0.05), Scheffe's multiple comparison test implemented. Results: 1. Least amount of strain was observed with complete palatal plate followed by A-P bar, palatal bar, and the U-shaped bar having most amount of strain. 2. In all designs of titanium major connector, less strain rate was observed under compressive loading than under torsional loading showing more resistance to lateral force. 3. For titanium major connector, less strain rate was observed when the force is applied to the first premolar area rather than to the second molar area indicating more strength with shorter length of lever. 4. In Comparison of Co-Cr major connector with titanium major connector, palatal strap and U-shaped bar designs showed higher strength under torsional force that is statically significant, and under compressive force, no significant difference was observed expert for U-shaped bar. 5. In titanium major connector, complete palatal plate showed lowest success rate in casting when compared with the Co-Cr major connector. Conclusion: Above results prove that when using titanium for major connector, only with designs capable of generating rigidity can the major connector have almost equal amount of rigidity as Co-Cr major connector and show lower success rate in casting when compared with the Co-Cr major connector.
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