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Investigation into the Possible Genetic Role of Serotonin and Dopamine Transporters in Psychological Resilience

Cho SH, Chung JK, Bang YW, Joo EJ

OBJECTIVES: Psychological resilience is the ability to cope with stress. The genetic background behind psychological resilience is not much known. The serotonin transporter and dopamine transporter are implicated in stress...
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Familial Pancreatic Cancer and Surveillance of High-Risk Individuals

Matsubayashi H, Takaori K, Morizane C, Kiyozumi Y

Family history of pancreatic cancer (PC) is a risk factor for PC development, and the risk level correlates with the number of affected families. A case of PC with ≥1...
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Etiology and treatment of central precocious puberty

Kim SY

The timing of pubertal onset is occurring at younger ages. This phenomenon is associated with many environmental factors such as sufficient nutrition, stress, many kinds of endocrine-disrupting chemicals, and genetic...
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Samter's Triad: State of the Art

Kim SD, Cho KS

Samter's triad (ST) is a well-known disease characterized by the triad of bronchial asthma, nasal polyps, and aspirin intolerance. Over the past few years, a rapid development in the knowledge...
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Comprehensive Molecular Characterization of Urological Malignancies: Literature Review of Landmark Studies

Suh J, Jeong CW

Owing to recent advancements in next-generation sequencing and bioinformatics, genetic data of urological malignancies exponentially studied and published. Application of precision medicine strategies for cancer diagnosis, management is just around...
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Interaction of genetic background and exercise training intensity on endothelial function in mouse aorta

Kim SK, Avila JJ, Massett MP

The purpose of this study was to characterize the genetic contribution to endothelial adaptation to exercise training. Vasoreactivity was assessed in aortas from four inbred mouse strains (129S1, B6, NON,...
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Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans

Heo WI, Park KY, Lee MK, Kim JH, Moon NJ, Seo SJ

BACKGROUND: Atopic dermatitis (AD) has increased in frequency to rates as high as 20% for children in developed countries. AD is one of the most common childhood diseases and has...
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Epithelial-microbial diplomacy: escalating border tensions drive inflammation in inflammatory bowel disease

King SJ, McCole DF

Inflammatory bowel diseases (IBD) are chronic conditions of the gastrointestinal tract-the main site of host-microbial interaction in the body. Development of IBD is not due to a single event but...
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The Effect of Microbiota on Colon Carcinogenesis

Yoon K, Kim N

Although genetic background is known to contribute to colon carcinogenesis, the exact etiology of the disease remains elusive. The organ’s extensive interaction with microbes necessitated research on the role of...
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Synchronous Presentation of Ductal Carcinoma In Situ of the Breast with Follicular Lymphoma

Kim EY, Do SI, Park YL, Park CH

A synchronous incidence of breast cancer and follicular lymphoma (FL) is uncommon. The association between these two conditions could be explained by the antigenic stimulation of the adjacent carcinoma and...
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Pharmacological Intervention for the Prevention of Diabetes Mellitus

Joung HN, Kwon HS

Diabetes mellitus is rapidly increasing worldwide, especially in Africa and Asia. According to the Diabetes Fact Sheet in Korea 2018, the prevalence of diabetes in adults 30 years and older...
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SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome

Do TT, Vu DM, Huynh TT, Le TK, Sohn EH, Le TM, Ha HH, Bui CB

BACKGROUND AND PURPOSE: Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed...
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Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

Kim HJ, Kim SK, Yoo KY, Lee KO, Yun JW, Kim SH, Kim HJ, Park SK

BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD...
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First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

Kim KI, Lee H, Jung SY, Lee DH, Lee J

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder...
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Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism

Bae J, Choi HS, Park SY, Lee DE, Lee S

BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman...
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Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes

Lee Y, Kim NY, Hong S, Chung SJ, Jeong SH, Lee PH, Sohn YH

Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls,...
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Clinical characteristics in Japanese children with nonobese type 2 diabetes

Urakami T

It is well known that the incidence of youth-onset type 2 diabetes is increasing worldwide. On the other hand, most studies have shown that the majority of youth-onset type 2...
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Genetic Variability of Methicillin Resistant Staphylococcus Aureus Strains Isolated from Burns Patients

Goudarzi M, Kobayashi , Hashemi A, Fazeli M, Navidinia

OBJECTIVES: Staphylococcus aureus is a nosocomial pathogen that provides a major challenge in the healthcare environment, especially in burns units where patients are particularly susceptible to infections. In this study,...
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National Guidelines for Breast Cancer Screening

Yoo KY, Noh DY, Lee ES

Breast cancer is the school most common cancer in Korea women. The incidence of breast cancer is around 25 per 100,000 women, and more than 5,500 women are diagnosed as...
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Differential Diagnosis of Juvenile Idiopathic Arthritis

Kim YD, Job AV, Cho W

Juvenile idiopathic arthritis (JIA) is a broad spectrum of disease defined by the presence of arthritis of unknown etiology, lasting more than six weeks duration, and occurring in children less...
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