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Genetic aspects of type 1 diabetes

Lee HS, Hwang JS

Type 1 diabetes mellitus (T1DM) is characterized by autoimmune destruction of pancreatic beta-cells in genetically predisposed individuals, eventually resulting in severe insulin deficiency. It is the most common form of...
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Epidemiological characteristics of breast cancer in Koreans

Park SK

In the ranking of cancer incidence in the year, female breast cancer was the highest cancer after thyroid cancer in 2004–2015, and became the most common cancer in 2016, exceeding...
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PM(2.5) and pediatric asthma

Hwang YH, Kim SW

Air pollution does harm to the respiratory tracts. Fine particulate matter (PM(2.5)) attacks the lung directly passing through mucosal ciliary clearance, causes new-onset asthma, or exacerbates asthma symptoms in children....
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Human leukocyte antigen-associated severe cutaneous adverse drug reactions: from bedside to bench and beyond

Nguyen DV, Vidal C, Chu HC, van Nunen

Despite their being uncommon, severe cutaneous adverse drug reactions (SCARs) result in a very great burden of disease. These reactions not only carry with them a high mortality (10%–50%) and...
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Associations among Genetic Variants and Intracranial Aneurysm in a Chinese Population

Li B, Hu C, Liu J, Liao X, Xun J, Xiao M, Yan J

PURPOSE: Genome-wide association studies (GWAS) have revealed that common variants on or near EDNRA, HDAC9, SOX17, RP1, CDKN2B-AS1, and RBBP8 genes are associated with intracranial aneurysm (IA) in European or...
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Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
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Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
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The Correlation between IL-1β-C31T Gene Polymorphism and Susceptibility to Breast Cancer

Eras N, Daloglu FT, Çolak T, Guler M, Akbas E

PURPOSE: Interleukin-1 beta (IL-1β), a pro-inflammatory cytokine, has been shown to influence breast cancer susceptibility. The relationship between its risk of breast cancer and IL-1β-C31T polymorphism has been demonstrated, but...
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Associations between the HaeIII Single Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus

Lee DH, Won GW, Lee YH, Ku EJ, Oh TK, Jeon HJ

BACKGROUND: Diabetic nephropathy (DN) is the most serious microvascular complication of diabetes mellitus and is one of the leading causes of end stage renal failure. In previous studies, the contribution...
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Impact of BRCA1/2 gene mutations on survival of patients with pancreatic cancer: A case-series analysis

Navarro EB, López EV, Quijano Y, Caruso R, Ferri V, Durand H, Cabrera IF, Reques ED, Ielpo B, Glagolieva AY, Plaza C

BRCA gene mutations are found in up to 10% of pancreatic adenocarcinoma cases. We present a description of 4 cases along with a review of the current literature regarding pathogenesis,...
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Acute Necrotizing Encephalopathy in Children: a Long Way to Go

Lee YJ, Hwang SK, Kwon S

BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare, but potentially life threatening neurological condition in children. This study aimed to investigate its clinical spectrum, diagnostic and therapeutic dilemma, and prognosis. METHODS:...
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Role of Gut Microbiota in Type 2 Diabetes Mellitus and Its Complications: Novel Insights and Potential Intervention Strategies

Woldeamlak B, Yirdaw K, Biadgo B

Type 2 diabetes mellitus has become one of the fastest growing public health problems worldwide. The disease is believed to involve a complex process involving genetic susceptibility and environmental factors....
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The Relationship between 10 Years Risk of Cardiovascular Disease and Schizophrenia Symptoms: Preliminary Results

Kilicaslan EE, Karakilic , Erol A

OBJECTIVE: Previous research shows that patients with schizophrenia have increased cardiovascular disease risk than general population. Increased cardiovascular risk in schizophrenia patients have been associated with many reasons such as...
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NR3C1 Polymorphisms for Genetic Susceptibility to Schizophrenia

Park JS, Lee SM, Kim JW, Kang WS

OBJECTIVES: Psychological stress has been known to increase the risk of schizophrenia. Because stress responses are mainly mediated by cortisol, the action of the glucocorticoid receptors (Nuclear Receptor Subfamily 3...
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Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Kim EY, Shin JS

BACKGROUND AND PURPOSE: Febrile seizure (FS) is a unique type of seizure that only occurs during childhood. Genelized epilepsy with febrile seizure plus (GEFS+) is a familial epilepsy syndrome associated...
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Current new challenges in the management of ulcerative colitis

Fukuda T, Naganuma M, Kanai T

Ulcerative colitis (UC) is a chronic inflammatory condition of the gastrointestinal tract. Although the cause of UC is postulated to be multifactorial in nature, including genetic predisposition, epithelial barrier defects,...
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Clinical aspects and treatments for pediatric inflammatory bowel diseases

Moon JS

The incidence of pediatric inflammatory bowel disease (IBD) is increasing worldwide, especially in the developing countries. It differs from adult disease in clinical manifestations, especially with regard to genetic predisposition...
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Genome-wide association study of degenerative mitral valve disease in Maltese dogs

Lee CM, Song DW, Ro WB, Kang MH, Park HM

Genome-wide association study (GWAS) is a powerful tool for identifying the genetic causes of various diseases. This study was conducted to identify genomic variation in Maltese dog genomes associated with...
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Clinical Aspects and Treatments for Pediatric Inflammatory Bowel Diseases

Moon JS

The incidence of pediatric inflammatory bowel disease (IBD) is increasing worldwide, especially in the developing countries. It differs from adult disease in clinical manifestations, especially with regard to genetic predisposition...
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Association between an Interleukin 4 Gene Polymorphism, rs2243268, and Urogenital Tuberculosis

Shim B, Lee SD, Kim TH, Jung SI, Cho WY, Lee G

PURPOSE: Urogenital tuberculosis (UGT) is rarely reported in developed countries. This study evaluated the genetic susceptibility of Korean patients to UGT. MATERIALS AND METHODS: A total of 35 UGT patients who...
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