• Title/Summary/Keyword: sporadic cases

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Multiplex PCR Detection of Waterborne Intestinal Protozoa: Microsporidia, Cyclospora, and Cryptosporidium

  • Lee, Seung-Hyun;Joung, Mi-Gyo;Yoon, Se-Joung;Choi, Kyoung-Jin;Park, Woo-Yoon;Yu, Jae-Ran
    • Parasites, Hosts and Diseases
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    • v.48 no.4
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    • pp.297-301
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    • 2010
  • Recently, emerging waterbome protozoa, such as microsporidia, Cyclospora, and Cryptosporidium, have become a challenge to human health worldwide. Rapid, simple, and economical detection methods for these major waterborne protozoa in environmental and clinical samples are necessary to control infection and improve public health. In the present study, we developed a multiplex PCR test that is able to detect all these 3 major waterborne protozoa at the same time. Detection limits of the multiplex PCR method ranged from $10^1$ to $10^2$ oocysts or spores. The primers for microsporidia or Cryptosporidium used in this study can detect both Enterocytozoon bieneusi and Encephalitozoon intestinalis, or both Cryptosporidium hominis and Cryptosporidium paNum, respectively. Restriction enzyme digestion of PCR products with BsaBI or BsiEI makes it possible to distinguish the 2 species of microsporidia or Cryptosporidium, respectively. This simple, rapid, and cost-effective multiplex PCR method will be useful for detecting outbreaks or sporadic cases of waterborne protozoa infections.

The CHEK2 I157T Variant and Colorectal Cancer Susceptibility: A Systematic Review and Meta-analysis

  • Liu, Chuan;Wang, Qing-Shui;Wang, Ya-Jie
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.5
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    • pp.2051-2055
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    • 2012
  • Background: The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of colorectal cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. Materials and Methods: We systematically searched PubMed, EMBASES, Elsevier and Springer for relevant articles before Apr 2012. Summary odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using a fixed-effects or random-effects models with Review Manager 5.0 software. Results: A total of seven studies including 4,029 cases and 13,844 controls based on the search criteria were included for analysis. A significant association of the CHEK2 I157T C variant with unselected CRC was found (OR = 1.61, 95% CI = 1.40-1.87, P < 0.001). We also found a significant association with sporadic CRC (OR = 1.48, 95% CI = 1.23-1.77, P < 0.001) and separately with familial CRC (OR = 1.97, 95% CI = 1.41-2.74, P < 0.001). Conclusion: This meta-analysis demonstrates that the CHEK2 I157T variant may be another important CRC-predisposing gene, which increases CRC risk, especially in familial CRC.

Treatment of Lung Cancer-Related Intractable Hiccups Using Pulsed Radiofrequency: Clinical Experience

  • Cho, Suk Ju
    • Journal of Hospice and Palliative Care
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    • v.21 no.3
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    • pp.104-107
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    • 2018
  • While most benign hiccups can be controlled with empirical therapy, intractable hiccups lasting longer than one month tend to have significant adverse effects with obscure etiology. Treatment strategies for intractable hiccups have not been established. Only a few sporadic cases of bilateral phrenic nerve blockage have been reported. Here, we report a case of intractable hiccups that lasted five weeks in a 56-year-old male patient with a lung cancer above the right diaphragm. We hypothesized that his intractable hiccups were caused by irritation and mass effect caused by the lung cancer. We performed an ultrasound-guided right unilateral phrenic nerve pulsed radiofrequency treatment, and the patient's intractable hiccups were successfully managed without complication.

Human Caliciviruses in Korea: A New Prevalent Group Defined by RNA-Dependent RNA Polymerase Diversity (한국형 사람 Caliciviruses의 RNA-Dependent RNA Polymerase Diversity)

  • Han, Dong-Pyo;Kim, Ji-Aee;Yang, Jai-Myung;Kim, Kyung-Hee
    • The Journal of Korean Society of Virology
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    • v.27 no.1
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    • pp.1-8
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    • 1997
  • Human caliciviruses (HuCVs) cause sporadic cases and outbreaks of acute gastroenteritis (AGE). Three major genogroups of HuCVs have been described including the Norwalk virus (NV)-, the Snow Mountain virus (SMA)-, and the Sapporo-genogroups. This study describes the detection and genetic variation of HuCVs from hospitalized infants with AGE in Korea by RT-PCR and sequencing. The cDNA fragments of 206 to 470bp corresponding to the region of 3 primer pairs (36/35, 35/51 or 3/51) in the polymerase region of NV were generated. Of 185 stools screened, 8% were positive by RT-PCR and their sequences showed that all strains contained the GLPSG and YGDD motifs which are conserved for HuCVs. Amino acid (aa) sequence analysis showed that these strains can be divided into 3 major genogroups. High conservation was observed in that one strain shares 100% of aa sequence with Southampton virus, another shares 99% with the Sapporo virus, and six strains share 90 to 95% with Snow Mountain virus. However, significant sequence variation was also found in other strains. This study indicates that all major genogroups of HuCVs are circulating in Korea.

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A Case of Malignant Triton Tumor on Supraclavicular Area (쇄골 상부에 발생한 악성 Triton 종양 1예)

  • Lim, Sang Ho;Park, Hee Tack;Hong, Ki Hwan
    • Korean Journal of Head & Neck Oncology
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    • v.29 no.2
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    • pp.54-57
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    • 2013
  • Malignant triton tumor(MTT) is a rare type of malignant peripheral nerve sheath tumor(MPNST) with focal rhabdomyoblastic differentiation. MTT constitutes about 5% of all MPNSTs and described the first case of a MTT in a patient with Von Recklinghausen disease by Masson in 1932. MTT is commonly seen in the head, neck, extremities and trunk. It can occur in sporadic form or over a setting of neurofibromatosis-1(NF-1). The diagnosis can be confirmed based on morphologic grounds supported by an immunostain such as S-100 protein. Desmin, myo-D1 and myogenin are immunostains positive for rhabdomyoblasts. MTT has an aggressive biological behavior so prognosis of this rare and highly malignant tumor is poor and optimal treatment remains unclear. But modern treatment consisted of radical excision and postoperative radiotherapy has improved the prognosis of such cases.

PPARγ Physiology and Pathology in Gastrointestinal Epithelial Cells

  • Thompson, E. Aubrey
    • Molecules and Cells
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    • v.24 no.2
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    • pp.167-176
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    • 2007
  • Peroxisome proliferator-activated receptor-gamma ($PPAR{\gamma}$) is expressed at very high levels in the gastrointestinal epithelium. Many of the functions of $PPAR{\gamma}$ in gastrointestinal epithelial cells have been elucidated in recent years, and a pattern is emerging which suggests that this receptor plays an important role in gastrointestinal physiology. There is also strong evidence that $PPAR{\gamma}$ is a colon cancer suppressor in pre-clinical rodent models of sporadic colon cancer, and there is considerable interest in exploitation of $PPAR{\gamma}$ agonists as prophylactic or chemopreventive agents in colon cancer. Studies in mice and in human colon cancer cell lines suggest several mechanisms that might account for the tumor suppressive effects of $PPAR{\gamma}$ agonists, although it is not in all cases clear whether these effects are altogether mediated by $PPAR{\gamma}$. Conversely, several reports suggest that $PPAR{\gamma}$ agonists may promote colon cancer under certain circumstances. This possibility warrants considerable attention since several million individuals with type II diabetes are currently taking $PPAR{\gamma}$ agonists. This review will focus on recent data related to four critical questions: what is the physiological function of $PPAR{\gamma}$ in gastrointestinal epithelial cells; how does $PPAR{\gamma}$ suppress colon carcinogenesis; is $PPAR{\gamma}$ a tumor promoter; and what is the future of $PPAR{\gamma}$ in colon cancer prevention?

[ ${\alpha}$ ]Synuclein Induces Unfolded Protein Response Via Distinct Signaling Pathway Independent of ER-membrane Kinases

  • Kang, Shin-Jung;Shin, Ki-Soon;Kim Kwon, Yun-Hee
    • Animal cells and systems
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    • v.10 no.3
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    • pp.115-120
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    • 2006
  • Parkinson's disease (PD) is a neurodegenerative disease caused by selective degeneration of dopaminergic neurons in the substantia nigra. Mutations in ${\alpha}$-synuclein have been causally linked to the pathogenesis of hereditary PD. In addition, it is a major component of Lewy body found in the brains of sporadic cases as well. In the present study, we examined whether overexpression of wild type or PD-related mutant ${\alpha}$-synuclein induces unfolded protein response (UPR) and triggers the known signaling pathway of the resulting endoplasmic reticulum (ER) stress in SH-SY5Y cells. Overexpression of wild type, A30P, and A53T ${\alpha}$-synuclein all induced XBP-1 mRNA splicing, one of the late stage UPR events. However, activation of ER membrane kinases and upregulation of ER or cytoplsmic chaperones were not detected when ${\alpha}$-synuclein was overexpressed. However, basal level of cytoplsmic calcium was elevated in ${\alpha}$-synuclein-expressing cells. Our observation suggests that overexpression of ${\alpha}$-synuclein induces UPR independent of the known ER membrane kinase-mediated signaling pathway and induces ER stress by disturbing calcium homeostasis.

ApoE Allele Test in Korean with Hair Root DNA (모근 DNA를 이용한 한국인의 ApoE 유전자형 검사)

  • Kim, Chong-Ho;Jung, Mi-Ra;Park, Sang-Ho
    • Korean Journal of Clinical Laboratory Science
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    • v.38 no.3
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    • pp.179-183
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    • 2006
  • Alzheimer's disease (AD) is characterised neuropathologically by the accumulation of neuritic plaques and neurofibrillary tangles as well as by cerebrovascular amyloid deposition and neuronal cell loss. Current advances have shown the apolipoproteinE-epsilon 4 (ApoE4) allele to be highly associated with late-onset familial and sporadic Alzheimer's disease (AD) in Western populations. The association of ApoE allele frequencies and dementia remains unknown in populations from many countries. We recently initiated a project to examine ApoE frequencies in non-demented healthy Koreans. Genomic DNA in hair root from a thousand persons was collected and ApoE gene type was investigated with the methods of polymerase chain reaction (PCR) and restriction fragment length polymorphism. A group of a thousand non-demented Koreans over the age of 40 years were found to be positive in 15.7% of the cases for ApoE4. AD and ApoE4 were closely related. ApoE epsilon 4 was a dangerous factor of AD and ApoE 4 allele made a contribution to the heterogenicity of AD.

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A Case of Epstein-Barr Virus-Associated Hemophagocytic Syndrome with Ascites (복수를 동반한 Epstein-Barr바이러스 연관성 혈구탐식증후군 1례)

  • Choi, Ye-Na;Jang, Gwang-Cheon;Kim, Dong-Soo;Park, Young-Nyun
    • Pediatric Infection and Vaccine
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    • v.9 no.1
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    • pp.95-99
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    • 2002
  • Hemophagocytic syndrome(HPS) has four subgroup, sporadic disorder, associated with acute infection, familial form seen in children, and associated with malignant disorders, immunodeficiencies, defective leukocyte function. Histologically, Hemopoietic cells are actively ingested by moncytes/macrophages in various organs, including lymph nodes, bone marrow, liver, and spleen. Epstein-Barr virus(EBV) is now thought to be one of the major causes for the virus-associated hemophagocytic syndrome(VAHS). Epstein-Barr(EB) virus infection is common, with up to 90% of individuals demonstrating positive titiers by age 20. Although elevated liver function tests commonly occur, severe hepatitis is rare. Only seven cases of ascites complicating Epstein-Barr infection are reported, but none clearly demonstrate the abscence of other causes of hepatic dysfunction. We are reporting a case of Epstein-Barr Virus-associated hemophagocytic syndrome with ascites.

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Screening for Lynch Syndrome in Young Colorectal Cancer Patients from Saudi Arabia Using Microsatellite Instability as the Initial Test

  • Alqahtani, Masood;Grieu, Fabienne;Carrello, Amerigo;Amanuel, Benhur;Mashour, Miral;Alattas, Rabab;Al-Saleh, Khalid;Alsheikh, Abdulmalik;Alqahtani, Sarah;Iacopetta, Barry
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.1917-1923
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    • 2016
  • Background: Lynch Syndrome (LS) is a familial cancer condition caused by germline mutations in DNA mismatch repair genes. Individuals with LS have a greatly increased risk of developing colorectal cancer (CRC) and it is therefore important to identify mutation carriers so they can undergo regular surveillance. Tumor DNA from LS patients characteristically shows microsatellite instability (MSI). Our aim here was to screen young CRC patients for MSI as a first step in the identification of unrecognized cases of LS in the Saudi population. Materials and Methods: Archival tumor tissue was obtained from 284 CRC patients treated at 4 institutes in Dammam and Riyadh between 2006 and 2015 and aged less than 60 years at diagnosis. MSI screening was performed using the BAT-26 microsatellite marker and positive cases confirmed using the pentaplex MSI analysis system. Positive cases were screened for BRAF mutations to exclude sporadic CRC and were evaluated for loss of expression of 4 DNA mismatch repair proteins using immunohistochemistry. Results: MSI was found in 33/284 (11.6%) cases, of which only one showed a BRAF mutation. Saudi MSI cases showed similar instability in the BAT-26 and BAT-25 markers to Australian MSI cases, but significantly lower frequencies of instability in 3 other microsatellite markers. Conclusions: MSI screening of young Saudi CRC patients reveals that approximately 1 in 9 are candidates for LS. Patients with MSI are strongly recommended to undergo genetic counselling and germline mutation testing for LS. Other affected family members can then be identified and offered regular surveillance for early detection of LS-associated cancers.