• 제목/요약/키워드: Personalized medicine

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Clinical Implementation of Precision Medicine in Gastric Cancer

  • Jeon, Jaewook;Cheong, Jae-Ho
    • Journal of Gastric Cancer
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    • 제19권3호
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    • pp.235-253
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    • 2019
  • Gastric cancer (GC) is one of the deadliest malignancies in the world. Currently, clinical treatment decisions are mostly made based on the extent of the tumor and its anatomy, such as tumor-node-metastasis staging. Recent advances in genome-wide molecular technology have enabled delineation of the molecular characteristics of GC. Based on this, efforts have been made to classify GC into molecular subtypes with distinct prognosis and therapeutic response. Simplified algorithms based on protein and RNA expressions have been proposed to reproduce the GC classification in the clinical field. Furthermore, a recent study established a single patient classifier (SPC) predicting the prognosis and chemotherapy response of resectable GC patients based on a 4-gene real-time polymerase chain reaction assay. GC patient stratification according to SPC will enable personalized therapeutic strategies in adjuvant settings. At the same time, patient-derived xenografts and patient-derived organoids are now emerging as novel preclinical models for the treatment of GC. These models recapitulate the complex features of the primary tumor, which is expected to facilitate both drug development and clinical therapeutic decision making. An integrated approach applying molecular patient stratification and patient-derived models in the clinical realm is considered a turning point in precision medicine in GC.

The role of de novo variants in complex and rare diseases pathogenesis

  • Rahman, Mahir;Lee, Woohyung;Choi, Murim
    • Journal of Genetic Medicine
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    • 제12권1호
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    • pp.1-5
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    • 2015
  • De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.

Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith-Wiedemann and Silver-Russell syndromes

  • Shin, Young-Lim
    • Journal of Genetic Medicine
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    • 제18권1호
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    • pp.24-30
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    • 2021
  • Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C, affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.

Update on Health-related Quality of Life in Colorectal Cancer Patients

  • Young-Seok Cho
    • Journal of Digestive Cancer Research
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    • 제3권2호
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    • pp.70-75
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    • 2015
  • Along with the recent trend of improved survival in patients with colorectal cancer (CRC), health-related quality of life (HRQoL) has become a significant outcome measure and its improvement is an important goal. The most widely adopted CRC specific HRQoL questionnaires are the European Organization for Research and Treatment of Cancer Qualityof-Life Questionnaire (EORTC QLQ-CR38) and the Functional Assessment of Cancer Therapy (FACT-C). CRC survivors without serious comorbidity or recurrence experience only minor deficits of overall HRQoL when compared to the general population. However, disease recurrence, progression, and more specific limitations, including weight loss, reduction in energy, and psychosocial problems like psychological distress and depression, could result in lower HRQoL. To improve HRQoL, further research is required to develop appropriate health education regarding lifestyle changes and personalized intervention strategies for CRC survivors.

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Resistance to Thyroid Hormone Syndrome Mutation in THRB and THRA: A Review

  • Jung Eun Moon
    • Journal of Interdisciplinary Genomics
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    • 제5권2호
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    • pp.32-34
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    • 2023
  • Resistance to thyroid hormone syndrome (RTH) is a genetic disease caused by the mutation of either the thyroid hormone receptor-β (THRB) gene or the thyroid hormone receptor-α (THRA) gene. RTH caused by THRB mutations (RTH-β) is characterized by the target tissue's response to thyroid hormone, high levels of triiodothyronine and/or thyroxine, and inappropriate secretion of thyroid-stimulating hormone (TSH). THRA mutation is characterized by hypothyroidism that affects gastrointestinal, neurological, skeletal, and myocardial functions. Most patients do not require treatment, and some patients may benefit from medication therapy. These syndromes are characterized by decreased tissue sensitivity to thyroid hormones, generating various clinical manifestations. Thus, clinical changes of resistance to thyroid hormones must be recognized and differentiated, and an approach to the practice of personalized medicine through an interdisciplinary approach is needed.

Realtime Analysis of Sasang Constitution Types from Facial Features Using Computer Vision and Machine Learning

  • Abdullah;Shah Mahsoom Ali;Hee-Cheol Kim
    • Journal of information and communication convergence engineering
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    • 제22권3호
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    • pp.256-266
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    • 2024
  • Sasang constitutional medicine (SCM) is one of the best traditional therapeutic approaches used in Korea. SCM prioritizes personalized treatment that considers the unique constitution of an individual and encompasses their physical characteristics, personality traits, and susceptibility to specific diseases. Facial features are essential for diagnosing Sasang constitutional types (SCTs). This study aimed to develop a real-time artificial intelligence-based model for diagnosing SCTs using facial images, building an SCTs prediction model based on a machine learning method. Facial features from all images were extracted to develop this model using feature engineering and machine learning techniques. The fusion of these features was used to train the AI model. We used four machine learning algorithms, namely, random forest (RF), multilayer perceptron (MLP), gradient boosting machine (GBM), and extreme gradient boosting (XGB), to investigate SCTs. The GBM outperformed all the other models. The highest accuracy achieved in the experiment was 81%, indicating the robustness of the proposed model and suitability for real-time applications.

임상환자를 대상으로 한 인터넷 게임장애의 치료방법 고찰 (Internet Gaming Disorder Treatment Options in the Hospital Setting)

  • 박정하;현기정;손지현;이영식
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제26권2호
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    • pp.75-85
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    • 2015
  • Internet gaming disorder (IGD), one of the common subtypes of internet addiction, is now classified in Section 3 of DSM-5 and is increasingly regarded as a growing health concern in many parts of the world. Consequently, many psychotherapeutic and psychopharmacological approaches have been considered and some research regarding therapeutic strategies has been conducted. However, treatment of IGD is in its early stages and therefore is not yet well established. This article reviews multiple therapeutic modalities including our own treatment model for IGD according to clinical and biological effects, thus providing suggestions for standard treatment strategies. The two main streams are psychopharmacological treatment and cognitive-behavior treatment, and the cognitive-behavior approach includes cognitive reconstruction, psychoeducation, and parenting coach. Many other non-pharmacological treatments are also recommended for personalized treatment of IGD.

Prevalence of Human Papillomavirus in Women from Saudi Arabia

  • Turki, Rola;Sait, Khalid;Anfinan, Nisreen;Sohrab, Sayed Sartaj;Abuzenadah, Adel Mohammed
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권5호
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    • pp.3177-3181
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    • 2013
  • Background: Human papillomavirus (HPV) infection is the main causes of cervical cancer in women worldwide. The goal of the present study was to determine the prevalence and distribution of HPV genotypes in women from Saudi Arabia. Recently, several HPV detection methods have been developed, each with different sensitivities and specificities. Methods: In this study, total forty cervical samples were subjected to polymerase chain reaction and hybridization to BioFilmChip microarray assessment. Results: Human papillomavirus (HPV) infections were found in 43% of the specimens. The most prevalent genotypes were HPV 16 (30%) HPV 18 (8.0%) followed by type HPV 45, occurring at 5.0%. Conclusion: Our finding showed the HPV infection and prevalence is increasing at alarming rate in women of Saudi Arabia. There was no low risk infection detected in the tested samples. The BioFilmChip microarray detection system is highly accurate and suitable for detection of single and multiple infections, allowing rapid detection with less time-consumption and easier performance as compared with other methods.

한의과대학(韓醫科大學) 학부생을 대상으로 한 원전학(原典學) 논문작성 교수법의 효과 고찰 (Review on Teaching the Traditional Korean Medical Students with Article Writing Program)

  • 채한;신상우;장우창;백유상
    • 대한한의학원전학회지
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    • 제21권1호
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    • pp.285-294
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    • 2008
  • This study investigated the effectiveness of article writing as a mean to teaching the traditional medical classics. We used questionnaire to evaluate the usefulness of the curriculum, reason for difficulty and measures for improvement. The creative and reasonable thinking was the major reason for difficulty, and this article writing program could be a proper methods to tackle this. We also found that the educational system was not satisfactory since other educative programs were not focusing on this issue. This study showed that this article writing program can be a useful teaching tool for achieving the purpose of traditional medical classics curriculum after several improvements such as more personalized guidance and understanding of anatomy of an article, lesser time burden and easier database access.

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위암에서 순환종양세포의 임상적 의의 (Clinical Significance of Circulating Tumor Cells in Gastric Cancer)

  • 전혜경;김광하
    • 대한상부위장관⦁헬리코박터학회지
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    • 제18권3호
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    • pp.162-167
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    • 2018
  • Cancer specimens obtained via surgical resection or biopsy are generally used to understand tumor-associated alterations; however, those approaches cannot always be performed because of their invasive nature, and they may fail to reflect current tumor dynamics and drug sensitivity, which may change during the therapeutic process. Therefore, many research groups have focused on developing a non-invasive biomarker with the ability to monitor tumor dynamics. Circulating tumor cells (CTCs) are metastatic cells released from the primary tumor into the bloodstream. Hematogenous spreading of CTCs is a crucial step in the metastatic cascade, which leads to the formation of overt metastases. CTCs have attracted considerable attention because of their easy accessibility and their superiority over conventional tumor markers. Detecting CTCs is considered a valuable modality to determine prognosis and monitor response to systemic therapies in patients with gastric cancer. Moreover, molecular analyses of CTCs may provide important biological information for individual patients with cancer, which may lead to the development of personalized cancer treatment. In this article, we review potential roles and clinical applications of CTCs in patients with gastric cancer.