• Title/Summary/Keyword: family pathogenesis

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The Differential Diagnosis between Allergic and Nonallergic Rhinitis and Management : Focusing on Current update of Medical History and Physical Examination (알레르기 비염과 비알레르기 비염의 감별 진단 및 관리 : 병력 청취 및 진찰 소견에 대한 최신지견 중심으로)

  • Hong, Eu-Gene;Shin, Jun-Hyuk;Jeong, Woo-Yeol;Nam, Hae-Jeong;Kim, Kyu-Seok;Kim, Yoon-Bum
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.27 no.4
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    • pp.101-109
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    • 2014
  • Objective : The purpose of this study is to summarize the differential diagnosis between allergic and nonallergic rhinitis and suggest management. Methods : We reviewed the current update of medical history and physical examination for allergic and nonallergic rhinitis. Then we analyzed clinical characteristics according to onset age, gender incidence and state of nasal symptoms, etc. Results : 1. Patients with nonallergic rhinitis tend to develop symptoms at a later age(>35 years of age), and there is a female-to-male incidence ratio for nonallergic rhinitis of 2:1 to 3:1. 2. Patients with nonallergic rhinitis report nasal congestion, nasal rhinorrhea and more often report postnasal drip rather than sneezing and itching, which are predominant symptoms of allergic rhinitis. And the nasal mucosa in nonallergic rhinitis usually looks normal. 3. Patients with nonallergic rhinitis have few complaints of concomitant symptoms of allergic symptoms and the absence of other atopic diseases in the patient or in the family supports the diagnosis of nonallergic rhinitis. 4. Common triggers of nonallergic rhinitis are nonspecific irritant exposures and many patients with nonallergic rhinitis find that antihistamines have no benefit. Conclusions : The differential diagnosis between allergic and nonallergic rhinitis is clinical and relies on a detailed medical history and physical examination.

Calcium-Phosphate Crystals Promote RANKL Expression via the Downregulation of DUSP1

  • Choi, YunJeong;Yoo, Ji Hyun;Lee, Youngkyun;Bae, Moon Kyoung;Kim, Hyung Joon
    • Molecules and Cells
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    • v.42 no.2
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    • pp.183-188
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    • 2019
  • Osteoarthritis (OA) is a naturally occurring, irreversible disorder and a major health burden. The disease is multifactorial, involving both physiological and mechanical processes, but calcium crystals have been associated intimately with its pathogenesis. This study tested the hypothesis that these crystals have a detrimental effect on the differentiation of osteoclasts and bone homeostasis. This study employed an osteoblastosteoclast coculture system that resembles in vivo osteoblastdependent osteoclast differentiation along with $Ca^{2+}$-phosphate-coated culture dishes. The calcium-containing crystals upregulated the expression of RANKL and increased the differentiation of osteoclasts significantly as a result. On the other hand, osteoblast differentiation was unaffected. MicroRNA profiling showed that dual-specificity phosphatases 1 (DUSP1) was associated with the increased RANKL expression. DUSP1 belongs to a family of MAPK phosphatases and is known to inactivate all three groups of MAPKs, p38, JNK, and ERK. Furthermore, knockdown of DUSP1 gene expression suggested that RANKL expression increases significantly in the absence of DUSP1 regulation. Microarray analysis of the DUSP1 mRNA levels in patients with pathological bone diseases also showed that the downregulated DUSP1 expression leads to increased expression of RANKL and consequently to the destruction of the bone observed in these patients. These findings suggest that calcium-containing crystals may play a crucial role in promoting RANKL-induced osteoclastogenesis via DUSP1.

Comparison of Seropositivity to Trichomonas vaginalis between Men with Prostatic Tumor and Normal Men

  • Kim, Jung-Hyun;Moon, Hong-Sang;Kim, Kyu-Shik;Hwang, Hwan-Sik;Ryu, Jae-Sook;Park, Sung-Yul
    • Parasites, Hosts and Diseases
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    • v.57 no.1
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    • pp.21-25
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    • 2019
  • Trichomoniasis is the most common curable sexually-transmitted infection. Most Trichomonas vaginalis-infected men are asymptomatic and can remain undiagnosed and untreated, and this has been thought to result in chronic persistent prostatic infection. Chronic inflammation is regarded as the major factor in the pathogenesis and progression of benign prostatic hyperplasia (BPH) and prostatic cancer (PCa). The aim of this study is to identify seropositivity to T. vaginalis in men with prostate tumors (BPH or PCa) visited to Hanyang University Hospital. A total of 183 men were enrolled between October 2013 and November 2014. They consisted of 139 with BPH (mean age: $64.0{\pm}0.07$) and 44 with prostate cancer (mean age: $73.3{\pm}0.18$). We carried out ELISA to identify the seropositivity to T. vaginalis. Mixed lysate antigen extracted from 8 strains of T. vaginalis was used in the ELISA. Also 58 male outpatients visited to Health Promotion Center in Hanyang University Hospital were evaluated for comparing group. As a results, seropositivity to T. vaginalis in patients with prostatic diseases was 19.7% (BPH: 18.7%, PCa: 22.7%) and it was significantly higher than the 1.7% of the comparing healthy group (P=0.001). Therefore, prostatic tumor showed higher seropositivity against T. vaginalis than normal men. As far as we know, this is the first report about seroprevalence in prostatic tumor in Korea.

Molecular analysis of chicken interferon-alpha inducible protein 6 gene and transcriptional regulation

  • Jeong-Woong Park;Marc Ndimukaga;Jaerung So;Sujung Kim;Anh Duc Truong;Ha Thi Thanh Tran;Hoang Vu Dang;Ki-Duk Song
    • Journal of Animal Science and Technology
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    • v.65 no.1
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    • pp.183-196
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    • 2023
  • Interferon-alpha inducible protein 6 (IFI6) is an interferon-stimulated gene (ISG), belonging to the FAM14 family of proteins and is localized in the mitochondrial membrane, where it plays a role in apoptosis. Transcriptional regulation of this gene is poorly understood in the context of inflammation by intracellular nucleic acid-sensing receptors and pathological conditions caused by viral infection. In this study, chicken IFI6 (chIFI6) was identified and studied for its molecular features and transcriptional regulation in chicken cells and tissues, i.e., lungs, spleens, and tracheas from highly pathogenic avian influenza virus (HPAIV)-infected chickens. The chIFI6-coding sequences contained 1638 nucleotides encoding 107 amino acids in three exons, whereas the duck IFI6-coding sequences contained 495 nucleotides encoding 107 amino acids. IFI6 proteins from chickens, ducks, and quail contain an IF6/IF27-like superfamily domain. Expression of chIFI6 was higher in HPAIV-infected White Leghorn chicken lungs, spleens, and tracheas than in mock-infected controls. TLR3 signals regulate the transcription of chIFI6 in chicken DF-1 cells via the NF-κB and JNK signaling pathways, indicating that multiple signaling pathways differentially contribute to the transcription of chIFI6. Further research is needed to unravel the molecular mechanisms underlying IFI6 transcription, as well as the involvement of chIFI6 in the pathogenesis of HPAIV in chickens.

Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm

  • Yunsun Song;Jong-Keuk Lee;Jin-Ok Lee;Boseong Kwon;Eul-Ju Seo;Dae Chul Suh
    • Korean Journal of Radiology
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    • v.23 no.1
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    • pp.101-111
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    • 2022
  • Objective: Familial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA. Materials and Methods: Among the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the families. A chromosomal microarray was performed to detect relatively large chromosomal abnormalities. Results: Thirteen individuals from the three families were sequenced, of whom seven had IAs. We noted three rare, potentially deleterious variants (PLOD3 c.1315G>A, NTM c.968C>T, and CHST14 c.58C>T), which are the most promising candidates among the 11 potential IA-associated variants considering gene-phenotype relationships, gene function, co-segregation, and variant pathogenicity. Microarray analysis did not reveal any significant copy number variants in the families. Conclusion: Using WES, we found that rare, potentially deleterious variants in PLOD3, NTM, and CHST14 genes are likely responsible for the subsets of FIAs in a cohort of Korean families.

Investigation of IL-1B (-511, +3954) and IL-1RN Gene Polymorphisms in Korean Psoriasis Patients (한국인 건선 환자에서의 IL-1B (-511, +3954)와 IL-1RN 유전자의 다양성 조사)

  • Kim, Yang-Kyum;Pyo, Chul-Woo;Kim, Tae-Yoon;Kim, Tai-Gyu
    • IMMUNE NETWORK
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    • v.3 no.3
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    • pp.242-247
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    • 2003
  • Background: Psoriasis is an inflammatory skin disorder that is characterized by a marked proliferation of keratinocytes, vascular dilation and leukocyte infiltration. Cytokines play important roles in the pathogenesis of inflammatory disorders. An overexpression of proinflammatory cytokines was characterized in psoriasis plaque. Among these cytokines, IL-$1{\beta}$ is major pro-inflammatory cytokine synthesized during the infection and inflammatory process. The IL-1 receptor antagonist (IL-1Ra) competes for the same IL-1 receptor for $IL-1{\alpha}$ and $-1{\beta}$, which prevents activation of the target cells. Three single nucleotide polymorphisms (SNPs) in the IL-$1{\beta}$ gene have been reported at position -31, -511 and +3954. Within the IL-1Ra gene (IL-1RN), there is a variable number of tandem repeats (VNTR) of an 86 bp length in intron 2. These polymorphisms related to cytokine production and associated with various diseases. Methods: We investigated the polymorphisms of IL-1B (promoter -511 and +3954) and IL-1RN on 114 psoriasis patients and 311 healthy normal controls in Korean. We performed PCR-RFLP on single nucleotide polymorphisms (SNPs) of IL-1B (promoter -511 and +3954) and fragment analysis on IL-1RN 86 bp VNTR polymorphism. Results: The frequency of IL-1B $-511^*1$ allele (patients vs. controls; 50.0% vs. 42.3%, RR=1.4) was significantly increased and IL-1B $-511^*2$ allele (patients vs. controls; 50.0% vs. 57.7%, RR=0.7) decreased in psoriasis patients compared to normal controls. We also analyzed the IL-1B -511 polymorphism according to patients' characters (age of onset, sex and family history). The IL-1B -511 alleles were significantly associated in patients with male and family history than health normal controls. There were no significant associations of IL-1B +3954 and IL-1RN polymorphisms with psoriasis patients. Conclusion: These results suggest that the polymorphism of IL-1B -511 could be genetic susceptibility to psoriasis in Koreans.

Helicobacter Species are Possible Risk Factors of Cholangiocarcinoma

  • Kaewpitoon, Soraya J;Loyd, Ryan A;Rujirakul, Ratana;Panpimanmas, Sukij;Matrakool, Likit;Tongtawee, Taweesak;Kootanavanichpong, Nusorn;Pengsaa, Prasit;Kompor, Ponthip;Chavengkun, Wasugree;Kujapun, Jirawoot;Norkaew, Jun;Ponphimai, Sukanya;Padchasuwan, Natnapa;Polsripradist, Poowadol;Eksanti, Thawatchai;Phatisena, Tanida;Kaewpitoon, Natthawut
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.1
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    • pp.37-44
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    • 2016
  • Several infectious agents are considered to be causes of cancer in human, mainly hepatitis B and C viruses, high-risk human pailloma viruses, Helicobacter pylori, Clonorchis sinensis, and Opisthorchis viverrini. Here we described the evident research and the association between Helicobacter spp. and biliary tract cancer particularly cholangiocarcinoma (CCA). Global epidemiological studies have suggested that Helicobacter spp. are possible risk factors for biliary tract diseases. Molecular studies support a linkage of Helicobacter spp. with CCA development. H. pylori, H. bilis, and H. hepaticus, are found in CCA, but the most common species are H. pylori and H. bilis. The type of CCA are associated with Helicobacter spp. include extrahepatic CCA, and common bile duct cancer. Up to the present, however, the results from different regions, materials and methods, sub-sites of cancer, and controls have not been consistent, thus introducing heterogeneity. Therefore, a comparison between co-Helicobacter spp.-CCA in the countries with low and high incident of CCA is required to settle the question. Furthermore, clarifying variation in the role of Helicobacter species in this CCA, including pathogenesis of CCA through enhanced biliary cell inflammation and proliferation, is necessary.

Matrix Metalloproteinase-3 Gene Polymorphisms (A(-267)G, A658G, T813C) is Associated with Type 2 Diabetes in Koreans (제2형 당뇨병과 MMP3 (A(-267)G, A658G, T813C)의 다형성과의 연관성)

  • Yoo, Min;Kim, Hyo-Jeong;Qing, Ye;Kim, Jong-Won;Kim, Su-Won
    • Journal of Life Science
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    • v.20 no.4
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    • pp.602-606
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    • 2010
  • Type 2 diabetes is a typical polygenic disease complex, for which several common risk alleles have been identified. Proteins in the matrix metalloproteinase-3 (MMP3) family are involved in the breakdown of the extracellular matrix in normal physiological processes such as embryonic development, reproduction and tissue remodeling, as well as in disease processes. Therefore, we investigated the genotype for the A(-267)G, A658G and T813C polymorphisms in the MMP3 gene in the Korean population and compared genotypes of patients with those of the control group. 200 patients (male 108, female 92), who had previously been diagnosed with type 2 diabetes (T2DM) and 100 control subjects (male 36, female 64) participated in this study. There was a strong association between A(-267)G and A658G polymorphism in the MMP3 gene and T2DM. The present study shows that MMP3 polymorphisms (A(-267)G and A658G) may be associated with the pathogenesis of T2DM. Further studies with a larger population may be needed for the development of diagnostic methods at a genetic level, such as DNA chip.

Acute Alcohol Responses and Personality Traits by Aldehyde Dehydrogenase 2 Genotype Variances in Patients with Alcohol Dependence (알코올의존 환자의 Aldehyde Dehydrogenase 2 유전자 변이에 따른 음주 후 반응 및 성격특성)

  • Lee, Jong-Il;Lee, Jung-Sik;Cho, Sung Nam;Chai, Young-Gyu;Nam, Jung Hyun;Yang, Byung Hwan;Choi, Ihn-Geun;Kim, Seok Hyeon;Roh, Sungwon
    • Korean Journal of Biological Psychiatry
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    • v.12 no.2
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    • pp.196-206
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    • 2005
  • Objectives:The purpose of this study is to evaluate the pathophysiology of alcoholics by investigating the differences in frequency of Aldehyde Dehydrogenase 2(ALDH2) genotypes and ALDH2 alleles between patients with alcohol dependence and controls, and the differences of drinking and personality traits in Korean male alcoholics with ALDH2 genotype variances. Methods:The authors selected 98 patients with alcohol dependence and 53 controls. Self-report questionnaires for acute reponses after alcohol ingestion, the AUI(Alcohol Use Inventory), and the NEO-PI-R(NEO Personality Inventory Revised) were given to all patients with alcohol dependence. ALDH2 genotypes were typed with MboII RFLP(Restriction Fragment Length Polymorphism) method in 53 controls and 98 patients with alcohol dependence. The authors divided alcoholic patients into two groups according to the presence of variant $ALDH2^2$ allele;normal ALDH2 alcoholics(N=87) and variant ALDH2 alcoholics(N=11). Results:1) The genotypic frequencies of subjects with $ALDH2^{1/1}$ were higher and those with $ALDH2^{1/2}$ and $ALDH2^{2/2}$ were lower in patients than in controls. 2) Alcohol dependence could be found in $ALDH2^{2/2}$ homozygote individuals. 3) Variant ALDH2 alcoholics had more family problems in the AUI than normal ALDH2 alcoholics. 4) Variant ALDH2 alcoholics experienced more flushing and cardiovascular responses after alcohol ingestion than normal ALDH2 alcoholics. 5) Variant ALDH2 alcoholics had less altruistic personality traits in the NEO-PI-R than normal ALDH2 alcoholics. 6) Variant ALDH2 alcoholics tended to have more tolerance to alcohol than normal ALDH2 alcoholics. Conclusion:Variant $ALDH2^2$ allele might play a protective role in the pathogenesis of alcohol dependence and there were several significant differences of drinking and personality traits in Korean male alcoholics with ALDH2 genotype variances.

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PEP-1-p18 prevents neuronal cell death by inhibiting oxidative stress and Bax expression

  • Kim, Duk-Soo;Sohn, Eun-Jeong;Kim, Dae-Won;Kim, Young-Nam;Eom, Seon-Ae;Yoon, Ga-Hyeon;Cho, Sung-Woo;Lee, Sang-Hyun;Hwang, Hyun-Sook;Cho, Yoon-Shin;Park, Jin-Seu;Eum, Won-Sik;Choi, Soo-Young
    • BMB Reports
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    • v.45 no.9
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    • pp.532-537
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    • 2012
  • P18, a member of the INK4 family of cyclin-dependent kinase inhibitors, is a tumor suppressor protein and plays a key cell survival role in a variety of human cancers. Under pathophysiological conditions, the INK4 group proteins participate in novel biological functions associated with neuronal diseases and oxidative stress. Parkinson's disease (PD) is characterized by loss of dopaminergic neurons, and oxidative stress is important in its pathogenesis. Therefore, we examined the effects of PEP-1-p18 on oxidative stress-induced SH-SY5Y cells and in a PD mouse model. The transduced PEP-1-p18 markedly inhibited 1-methyl-4-phenyl pyridinium-induced SH-SY5Y cell death by inhibiting Bax expression levels and DNA fragmentation. Additionally, PEP-1-p18 prevented dopaminergic neuronal cell death in the substantia nigra of a 1-methyl-4-phenyl-1,2,3,6,-tetrahydropyridine-induced PD mouse model. These results indicate that PEP-1-p18 may be a useful therapeutic agent against various diseases and is a potential tool for treating PD.