• Title/Summary/Keyword: personalized treatment

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Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

  • Lee, Seung Ryeol;Lee, Tae Ho;Song, Seung-Hun;Kim, Dong Suk;Choi, Kyung Hwa;Lee, Jae Ho;Kim, Dae Keun
    • Clinical and Experimental Reproductive Medicine
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    • v.48 no.4
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    • pp.283-294
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    • 2021
  • A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

Molecular Pathology of Gastric Cancer

  • Kim, Moonsik;Seo, An Na
    • Journal of Gastric Cancer
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    • v.22 no.4
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    • pp.273-305
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    • 2022
  • Gastric cancer (GC) is one of the most common lethal malignant neoplasms worldwide, with limited treatment options for both locally advanced and/or metastatic conditions, resulting in a dismal prognosis. Although the widely used morphological classifications may be helpful for endoscopic or surgical treatment choices, they are still insufficient to guide precise and/or personalized therapy for individual patients. Recent advances in genomic technology and high-throughput analysis may improve the understanding of molecular pathways associated with GC pathogenesis and aid in the classification of GC at the molecular level. Advances in next-generation sequencing have enabled the identification of several genetic alterations through single experiments. Thus, understanding the driver alterations involved in gastric carcinogenesis has become increasingly important because it can aid in the discovery of potential biomarkers and therapeutic targets. In this article, we review the molecular classifications of GC, focusing on The Cancer Genome Atlas (TCGA) classification. We further describe the currently available biomarker-targeted therapies and potential biomarker-guided therapies. This review will help clinicians by providing an inclusive understanding of the molecular pathology of GC and may assist in selecting the best treatment approaches for patients with GC.

Pharmacogenomics of Depressive Disorders (우울증의 약물유전체학)

  • Ham, Byung-Joo;Lee, Min-Soo
    • Korean Journal of Biological Psychiatry
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    • v.8 no.2
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    • pp.226-232
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    • 2001
  • The pharmacotherapy of depression has reduced morbidity and improved outcome for many depressive patients. A wide range of classical and new antidepressants are available for their treatment. However, 30-40% of all patients do not respond sufficiently to the initial treatment and present adverse effects. Pharmacogenetics studies the genetic basis of an individual's ability to respond to pharmacotherapy. Recently, some reports on serotonin transporter gene polymorphisms and their influence on the response to antidepressive therapy provide an interesting diagnostic tool in assessing the chances of response to antidepressants. We also investigated the relationship between serotonin transprter polymorphisms(5-HTTLPR) and the long-term effect of the antidepressant treatment. 128 depressive patients were enrolled into 2nd year study. The therapeutic response of each subset was not different at 8th, 16th week, but the subset with homozygote(l/l) of long variant showed a better therapeutic response to antidepressant than the heterozygote(l/s) of long and short variant, which showed a better therapeutic response than the subset with homozygote (s/s) of short variant at 1st year and 2nd year after the antidepressant treatment. This result shows that the serotonin transporter polymorphisms may be related to the long-term effect of antidepressant treatment. The potential for pharmacogenomics, the use of genetic information to guide pharmacotherapy and improve outcome by providing individualized treatment decisions, has gained increasing attention. pharmacogenomics will contribute to individualize drug choice by using genotype to predict positive clinical outcomes, adverse reactions, and levels of drug metabolism. Personalized medicine, the use of marker-assisted diagnosis and targeted therapies derived from an individual molecular profile, will impact the antidepressant therapy and this approach will replace the traditional trial-and-error practice of medicine.

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Patient Assessment of Primary Care for Health Cooperative Korean Medicine Clinics in South Korea (의료생활협동조합 한의원의 일차의료서비스 수준 평가)

  • Seong, Taekyung;Lim, Byungmook
    • Journal of Society of Preventive Korean Medicine
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    • v.17 no.2
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    • pp.69-78
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    • 2013
  • Objectives : Health cooperative movement is of increasing concern among medical consumers and professionals in Korea. Most health cooperative clinics provide Western Medicine and Korean Medicine(KM) to patients. This study aimed to evaluate the primary care level of health cooperative KM clinics and compare it with local KM clinics in Korea. Methods : Face to face survey was performed at the 3 health cooperative KM clinics and 5 local KM clinics with the Korean Primary Care Assessment Tool (KPCAT). The KPCAT consists of 5 domains (21 items): first contact (5), coordination function (3), comprehensiveness (4), family/community orientation (4), and personalized care (5). Subjects were patients or guardians who had visited KM clinics five times or more during the last 3 months. We compared primary care scores of each domain between health cooperative KM clinics and local KM clinics. Results : Data were collected from 200 respondents (100 patients from health cooperative KM clinics and 100 local KM clinics). Total average scores of the KPCAT for health cooperative clinics and local KM clinics were $81.1{\pm}12.0$ and $75.4{\pm}9.5$, respectively. Among primary care domains, personalized care was the highest ($89.2{\pm}12.0$, $89.6{\pm}8.4$, respectively), and comprehensiveness function was the lowest ($68.5{\pm}22.5$, $54.5{\pm}22.0$, respectively). Significant differences between two groups were noted in comprehensiveness function (68.5 vs. 54.5, P=0.000), family-community orientation (79.5 vs. 73.0, P=0.004), first contact(89.2 vs 84.0, p=0.001) and coordination function(74.0 vs 68.7, p=0.025). Conclusions : Based on the patients assessment, health cooperative KM clinics provide more primary care-oriented services than local KM clinics. This means that health cooperative clinic can be one of alternatives to strengthen the primary health care in Korea. Future researches are recommended to measure patients satisfaction and treatment effectiveness in the health cooperative clinics.

A Research on Factors Affecting Medical Service Perception for the Realization of Personalized Traditional Korean Medicine (환자 맞춤 한방의료 구현을 위한 의료서비스 인식 영향 요인 연구)

  • Kim, So Yun;Kim, Hyun Ji;Jung, Hoon;Woo, Hoon Shik;Nam, Seung Kyu;Kim, Young Il
    • Journal of Acupuncture Research
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    • v.32 no.1
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    • pp.37-51
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    • 2015
  • Objectives : This study aimed to evaluate influential factors affecting patients' surveyed medical service perception of Traditional Korean Medicine(TKM). Methods : This study was a randomized single blind parallel design and 335 patients were participated. After treatment, we carried out a survey about medical service perception index from April 1st 2013 to January 31th 2014. We evaluated and analyzed the difference between Korean internal medicine and acupuncture & moxibustion, and also between the age groups of younger than 30s and older than 40s. Results : As the results of the analysis, acupuncture & moxibustion group had higher points on medical service perception sub factors than Korean internal medicine group. There was no meaningful difference between the age groups. Conclusions : The study showed higher satisfaction with acupuncture & moxibustion than Korean internal medicine, and as variable, department was more influential than age for medical service perception.

The Tumor Suppressor, p53, Negatively Regulates Non-Canonical NF-κB Signaling through miRNA-Induced Silencing of NF-κB-Inducing Kinase

  • Jang, Hanbit;Park, Seulki;Kim, Jaehoon;Kim, Jong Hwan;Kim, Seon-Young;Cho, Sayeon;Park, Sung Goo;Park, Byoung Chul;Kim, Sunhong;Kim, Jeong-Hoon
    • Molecules and Cells
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    • v.43 no.1
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    • pp.23-33
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    • 2020
  • NF-κB signaling through both canonical and non-canonical pathways plays a central role in immune responses and inflammation. NF-κB-inducing kinase (NIK) stabilization is a key step in activation of the non-canonical pathway and its dysregulation implicated in various hematologic malignancies. The tumor suppressor, p53, is an established cellular gatekeeper of proliferation. Abnormalities of the TP53 gene have been detected in more than half of all human cancers. While the non-canonical NF-κB and p53 pathways have been explored for several decades, no studies to date have documented potential cross-talk between these two cancer-related mechanisms. Here, we demonstrate that p53 negatively regulates NIK in an miRNA-dependent manner. Overexpression of p53 decreased the levels of NIK, leading to inhibition of the non-canonical NF-κB pathway. Conversely, its knockdown led to increased levels of NIK, IKKα phosphorylation, and p100 processing. Additionally, miR-34b induced by nutlin-3 directly targeted the coding sequences (CDS) of NIK. Treatment with anti-miR-34b-5p augmented NIK levels and subsequent non-canonical NF-κB signaling. Our collective findings support a novel cross-talk mechanism between non-canonical NF-κB and p53.

Cancer Patient Specific Driver Gene Identification by Personalized Gene Network and PageRank (개인별 유전자 네트워크 구축 및 페이지랭크를 이용한 환자 특이적 암 유발 유전자 탐색 방법)

  • Jung, Hee Won;Park, Ji Woo;Ahn, Jae Gyoon
    • KIPS Transactions on Software and Data Engineering
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    • v.10 no.12
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    • pp.547-554
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    • 2021
  • Cancer patients can have different kinds of cancer driver genes, and identification of these patient-specific cancer driver genes is an important step in the development of personalized cancer treatment and drug development. Several bioinformatic methods have been proposed for this purpose, but there is room for improvement in terms of accuracy. In this paper, we propose NPD (Network based Patient-specific Driver gene identification) for identifying patient-specific cancer driver genes. NPD consists of three steps, constructing a patient-specific gene network, applying the modified PageRank algorithm to assign scores to genes, and identifying cancer driver genes through a score comparison method. We applied NPD on six cancer types of TCGA data, and found that NPD showed generally higher F1 score compared to existing patient-specific cancer driver gene identification methods.

Dexamethasone-induced muscle atrophy and bone loss in six genetically diverse collaborative cross founder strains demonstrates phenotypic variability by Rg3 treatment

  • Bao Ngoc Nguyen;Soyeon Hong;Sowoon Choi;Choong-Gu Lee;GyHye Yoo;Myungsuk Kim
    • Journal of Ginseng Research
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    • v.48 no.3
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    • pp.310-322
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    • 2024
  • Background: Osteosarcopenia is a common condition characterized by the loss of both bone and muscle mass, which can lead to an increased risk of fractures and disability in older adults. The study aimed to elucidate the response of various mouse strains to treatment with Rg3, one of the leading ginsenosides, on musculoskeletal traits and immune function, and their correlation. Methods: Six Collaborative Cross (CC) founder strains induced muscle atrophy and bone loss with dexamethasone (15 mg/kg) treatment for 1 month, and half of the mice for each strain were orally administered Rg3 (20 mg/kg). Different responses were observed depending on genetic background and Rg3 treatment. Results: Rg3 significantly increased grip strength, running performance, and expression of muscle and bone health-related genes in a two-way analysis of variance considering the genetic backgrounds and Rg3 treatment. Significant improvements in grip strength, running performance, bone area, and muscle mass, and the increased gene expression were observed in specific strains of PWK/PhJ. For traits related to muscle, bone, and immune functions, significant correlations between traits were confirmed following Rg3 administration compared with control mice. The phenotyping analysis was compiled into a public web resource called Rg3-OsteoSarco. Conclusion: This highlights the complex interplay between genetic determinants, pathogenesis of muscle atrophy and bone loss, and phytochemical bioactivity and the need to move away from single inbred mouse models to improve their translatability to genetically diverse humans. Rg3-OsteoSarco highlights the use of CC founder strains as a valuable tool in the field of personalized nutrition.

Microarray and Next-Generation Sequencing to Analyse Gastric Cancer

  • Dang, Yuan;Wang, Ying-Chao;Huang, Qiao-Jia
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.19
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    • pp.8035-8040
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    • 2014
  • Gastric cancer is the second after lung cause of cancer-related mortality in the world. Early detection and treatment can lead to a long survival time. Recently microarrays and next generation sequencing (NGS) have become very useful tools of comprehensive research into gastric cancer, facilitating the identification of treatment targets and personalized treatments. However, there are numerous challenges from cancer target discovery to practical clinical benefits. Although there are many biomarkers and target agents, only a minority of patients are tested and treated accordingly. Microarray technology with maturity was established more than 10 years ago, and has been widely used in the study of functional genomics, systems biology, and genomes in medicine. Second generation sequencing technology is more recent, but development is very fast, and it has been applied to the genome, including sequencing and epigenetics and many aspects of functional genomics. Here we review insights gained from these studies regarding the technology of microarray and NGS, how to elucidate the molecular basis of gastric cancer and identify potential therapeutic targets, and how to analyse candidate genes. We also discuss the challenges and future directions of such efforts.

A Literature Study on Five Type Personality (Wutairen) in China: characteristic, treatment and prevention (중국 오태인 체질이론의 문헌연구: 체질 특성과 치료, 양생법)

  • Cui, Zhen-Yang;Gwak, Si-Ra;Joo, Jong-Cheon
    • Journal of Sasang Constitutional Medicine
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    • v.30 no.1
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    • pp.14-23
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    • 2018
  • Objectives Because of growing interest in personalized medicine, constitutional medicine also becomes more important. Constitutional medicine has already developed in many countries. In this study, we tried to investigate five type personality (Wutairen), a kind of Chinese constitutional medicine. Methods We did a research on five type personality using CNKI (http://www.cnki.net) up to Jan 15, 2018. Total 204 papers were searched with the keyword "Wutairen". We excluded 170 papers away from the subject or clinically studied. As a result, 34 papers were selected and analyzed. Results and Conclusions Five type personality (Wutairen) originated from Huangdi Neijing-Lingshu. There are 5 types: greater Yin person (Taiyin), lesser Yin person (Shaoyin), greater Yang person (Taiyang), lesser Yang person (Shaoyang) and Yin-yang balanced person. These are classified according to Yin-Yang content. Each type has different characteristic, treatment and prevention. Five type personality theory considers internal factors more important than external factors. Also, it considers the balance of Yin-Yang important.