• Title/Summary/Keyword: Diagnosis Function

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Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot-Marie-Tooth disease

  • Kim, Min Jee;Park, Sun Ok;Hong, Ye Seul;Park, Eun A;Lee, Yu Bin;Choi, Byung-Ok;Lee, Kyung-Ah;Yu, Eun Jeong;Kang, Inn Soo
    • Journal of Genetic Medicine
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    • v.19 no.1
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    • pp.7-13
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    • 2022
  • Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot-Marie-Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%). Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion: This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

Physical Therapy Approach and Management for Lymphedema : Expert Opinion (림프부종의 물리치료적 접근과 관리 : 전문가 견해)

  • Lee, Hwa-Gyeong;Kim, Seong-Yeol;Choi, Kyoung-Wook
    • Journal of The Korean Society of Integrative Medicine
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    • v.10 no.3
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    • pp.73-84
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    • 2022
  • Background : Lymphedema is a progressive disorder characterized by the impairment of lymph flow from tissues to the blood circulation system. This occurs as a result of damage to the lymphatic system. Complex decongestive therapy (CDT) is a multimodal, conservative therapeutic approach that is used for the management of lymphedema. CDT consists of a combination of compression therapy, manual lymphatic drainage, exercise, and skin care. Purpose : This study aimed to provide a review of available physical therapy interventions as well as general care guidelines for patients with lymphedema. Methods : The recommendations and guidelines for physical therapy management, medical management, and general information were reviewed from the following sources: 1) The American Physical Therapy Association, 2) The Norton School of Lymphatic Therapy, and 3) The International Society of Lymphology. This review contains general information, including the medical management and the importance of physical therapy in lymphedema. Physical therapy management should be based on an assessment of the patients' presenting impairments, including based on inclusion or exclusion of physical therapy interventions. This review also outlines a step-by-step approach that starts with disease diagnosis and progression all the way through to rehabilitation as an outpatient. Conclusion : Depending on the patients' journey to recovery and the requirement for rehabilitation, physical therapy interventions should focus on the patients' needs including pain, appearance, physical function and general rehabilitation. We hope that this review will provide information on evidence-based physical therapy and general care to patients with lymphedema.

SAMD13 as a Novel Prognostic Biomarker and its Correlation with Infiltrating Immune Cells in Hepatocellular Carcinoma

  • Hye-Ran Kim;Choong Won Seo;Jae-Ho Lee;Sang Jun Han;Jongwan Kim
    • Biomedical Science Letters
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    • v.28 no.4
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    • pp.260-275
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    • 2022
  • Sterile alpha motif (SAM) domains bind to various proteins, lipids, and RNAs. However, these domains have not yet been analyzed as prognostic biomarkers. In this study, SAM domain containing 13 (SAMD13), a member of the SAM domain, was evaluated to identify a novel prognostic biomarker in various human cancers, including hepatocellular carcinoma (HCC). Moreover, we identified a correlation between SAMD13 expression and immune cell infiltration in HCC. We performed bioinformatics analysis using online databases, such as Tumor Immune Estimation Resource, UALCAN, Kaplan-Meier plotter, LinkedOmics, and Gene Expression Profiling Interactive Analysis2. SAMD13 expression in HCC samples was significantly higher than that in normal liver tissue; additionally, SAMD13 was higher in primary tumors, various stages of cancer and grades of tumor, and status of nodal metastasis. Higher SAMD13 expression was also associated with poorer prognosis. SAMD13 expression positively correlated with CD8+ T cells, CD4+ T cells, B cells, neutrophils, macrophages, and dendritic cells. In the analysis of SAMD13 co-expression networks, positively related genes of SAMD13 were associated with a high hazard ratio in different types of cancer, including HCC. In biological function of SAMD13, SAMD13 mainly include spliceosome, ribosome biogenesis in eukaryote, ribosome, etc. These results suggest that SAMD13 may serve as a novel prognostic biomarker for HCC diagnosis and provide novel insights into tumor immunology in HCC.

Periodontal and prosthetic treatment of maxillary incisors with pathological tooth migration: a case report with 10-year follow-up (병적 치아 이동된 상악 전치의 치주, 보철 치료 후 10년 경과 증례)

  • Kim, So-Yeun;Kwon, Eun-Young
    • Journal of Dental Rehabilitation and Applied Science
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    • v.38 no.1
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    • pp.26-33
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    • 2022
  • Anterior tooth spacing is observed by pathological tooth movement (PTM), which is common in periodontal patients. And various occlusal factors contribute to PTM, especially in the maxillary anterior region, when there is excessive occlusal force, flaring due to position problem easily occurs. Teeth with loss of periodontal support tissue can secure stability when expanding the support area through intentional splinting, and change the occlusion when restored as a fixed prosthesis. After confirming the stable occlusion through the provisional prosthesis, it can be transferred to the final prosthesis through CAD-CAM. In this case, we present a long-term stable case through accurate diagnosis and treatment of the maxillary anterior teeth that have lost interdental contact.

Prediction of Jacking Force Loss for Serviced High Speed Railway PSC BOX Bridge Using Constant Deflection (상시처짐을 이용한 공용중인 고속철도 PSC BOX교의 긴장력 손실 예측)

  • Jung-Youl Choi;Tae-Keun Kim;Jee-Seung Chung
    • The Journal of the Convergence on Culture Technology
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    • v.9 no.4
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    • pp.549-555
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    • 2023
  • Jacking force loss management inside the PSC Box girder of a common high-speed railway is a very important feature in girder performance, and requires detailed management during the maintenance of the girder. This study aimed to analyze the timing of re-tension prediction of PSC Box girder based on the reduction level of the packing force inside the girder and the results of the tension loss measured without the train load test. As a result of predicting the timing of re-tension according to the level of tension reduction of the PSC Box Girder, the Jacking Force Loss curve was gently analyzed before the structure reached 17 years after confirmed completion, and 17 years later, it was found that the jacking force loss curve progressed rapidly. The results confirmed that the tension of the structure decreases with the service life increase, but considerably decreases as the structure ages. Therefore, more data and research on tension loss of facilities over 20 years are much required.

Clinical Practice Guidelines for Hepatocellular Carcinoma: Current and Future Perspectives (간암 진료가이드라인의 현재와 전망)

  • Bo Hyun Kim;Joong-Won Park
    • Journal of Digestive Cancer Research
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    • v.4 no.1
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    • pp.21-28
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    • 2016
  • Hepatocellular carcinoma (HCC) is rather unique. Most of HCC patients have underlying chronic liver diseases with or without cirrhosis and the prognosis of HCC depends on the liver function, as well as the tumor extent. Non-invasive diagnosis of HCC can be made with certain risk factors and specific imaging findings (e.g. hypervascularity). Patients with HCC can receive surgical resection, radiotherapy, and systemic chemotherapy as other solid malignancies. HCC has more treatment options such as liver transplantation, transarterial chemoembolization (TACE) and radiofrequency ablation (RFA). A variety of practice guidelines for HCC has been published by many academic societies. Different healthcare systems and availability of resources also affect the practice guidelines; therefore, practice guidelines have similarities and dissimilarities. Herein, we review the current status of practice guidelines for HCC and future perspectives for the improvement of guidelines are also discussed.

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Using dental virtual patients with dynamic occlusion in esthetic restoration of anterior teeth: case reports (동적 교합을 나타내는 가상 환자의 형성을 통한 심미적인 전치부 보철 수복 증례)

  • Phil-Joon Koo;Yu-Sung Choi;Jong-Hyuk Lee;Seung-Ryong Ha
    • The Journal of Korean Academy of Prosthodontics
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    • v.61 no.4
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    • pp.328-343
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    • 2023
  • Recently, a method of fabricating an esthetic anterior fixed prosthesis by integrating data such as three-dimensional facial scan and jaw motion to form a virtual patient with dynamic occlusion has been introduced. This enables smooth communication with patients during the diagnosis process, improves the predictability of esthetic prosthetic treatment, and lowers the possibility of occlusal adjustment. In this case report, a virtual patient with dynamic occlusion was created in which the results of the treatment were simulated, and esthetic maxillary anterior fixed prosthesis was fabricated. With the aid of the virtual patient, the final restorations were satisfactory both in terms of esthetic and function.

Surface Modification of a Screen-printed Carbon Electrode with Iridium Oxide and Its Application of an Impedance Sensor (스크린 프린팅 탄소 전극의 이리듐 산화물 표면 개질과 이의 임피던스 센서 응용)

  • Min Sik Kil;Jo Hee Yoon;Jinwu Jang;Bong Gill Choi
    • Applied Chemistry for Engineering
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    • v.34 no.5
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    • pp.493-500
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    • 2023
  • In this study, we developed an impedance sensor capable of controlling electrode polarization by coating iridium oxide (IrOx) on the surface of the screen-printed carbon electrode. IrOx was deposited on the surface of carbon electrodes according to the number of cycles (0~50 cycles) by cyclic voltammetry. Observation of scanning electron microscope images revealed that the size and number of IrOx particles increased as the number of cycles increased. The changes in impedance responses as a function of the NaCl concentration of the as-obtained sensors were investigated using electrochemical impedance spectroscopy. The sensors manufactured in 50 cycles exhibited the best coefficient of determination and reproducibility, attributed to the well-controlled electrode polarization. We further demonstrated the usefulness of the IrOx-based sensor as a diagnosis sensor for dry eye syndrome by comparing the results of the commercially available osmometer and our sensor using actual solution samples.

Segmentation of Mammography Breast Images using Automatic Segmen Adversarial Network with Unet Neural Networks

  • Suriya Priyadharsini.M;J.G.R Sathiaseelan
    • International Journal of Computer Science & Network Security
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    • v.23 no.12
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    • pp.151-160
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    • 2023
  • Breast cancer is the most dangerous and deadly form of cancer. Initial detection of breast cancer can significantly improve treatment effectiveness. The second most common cancer among Indian women in rural areas. Early detection of symptoms and signs is the most important technique to effectively treat breast cancer, as it enhances the odds of receiving an earlier, more specialist care. As a result, it has the possible to significantly improve survival odds by delaying or entirely eliminating cancer. Mammography is a high-resolution radiography technique that is an important factor in avoiding and diagnosing cancer at an early stage. Automatic segmentation of the breast part using Mammography pictures can help reduce the area available for cancer search while also saving time and effort compared to manual segmentation. Autoencoder-like convolutional and deconvolutional neural networks (CN-DCNN) were utilised in previous studies to automatically segment the breast area in Mammography pictures. We present Automatic SegmenAN, a unique end-to-end adversarial neural network for the job of medical image segmentation, in this paper. Because image segmentation necessitates extensive, pixel-level labelling, a standard GAN's discriminator's single scalar real/fake output may be inefficient in providing steady and appropriate gradient feedback to the networks. Instead of utilising a fully convolutional neural network as the segmentor, we suggested a new adversarial critic network with a multi-scale L1 loss function to force the critic and segmentor to learn both global and local attributes that collect long- and short-range spatial relations among pixels. We demonstrate that an Automatic SegmenAN perspective is more up to date and reliable for segmentation tasks than the state-of-the-art U-net segmentation technique.

Expression of anoctamin 7 (ANO7) is associated with poor prognosis and mucin 2 (MUC2) in colon adenocarcinoma: a study based on TCGA data

  • Chen, Chen;Siripat Aluksanasuwan;Keerakarn Somsuan
    • Genomics & Informatics
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    • v.21 no.4
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    • pp.46.1-46.10
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    • 2023
  • Colon adenocarcinoma (COAD) is the predominant type of colorectal cancer. Early diagnosis and treatment can significantly improve the prognosis of COAD patients. Anoctamin 7 (ANO7), an anion channel protein, has been implicated in prostate cancer and other types of cancer. In this study, we analyzed the expression of ANO7 and its correlation with clinicopathological characteristics among COAD patients using the Gene Expression Profiling Interactive Analysis 2 (GEPIA2) and the University of Alabama at Birmingham CANcer (UALCAN) databases. The GEPIA2, Kaplan-Meier plotter, and the Survival Genie platform were employed for survival analysis. The co-expression network and potential function of ANO7 in COAD were analyzed using GeneFriends, the Database for Annotation, Visualization and Integrated Discovery (DAVID), GeneMANIA, and Pathway Studio. Our data analysis revealed a significant reduction in ANO7 expression levels within COAD tissues compared to normal tissues. Additionally, ANO7 expression was found to be associated with race and histological subtype. The COAD patients exhibiting low ANO7 expression had lower survival rates compared to those with high ANO7 expression. The genes correlated with ANO7 were significantly enriched in proteolysis and mucin type O-glycan biosynthesis pathway. Furthermore, ANO7 demonstrated a direct interaction and a positive co-expression correlation with mucin 2 (MUC2). In conclusion, our findings suggest that ANO7 might serve as a potential prognostic biomarker and potentially plays a role in proteolysis and mucin biosynthesis in the context of COAD.