• 제목/요약/키워드: Genetic high risk

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Awareness of Breast Cancer Risk among Female University Students from 24 Low, Middle Income and Emerging Economy Countries

  • Peltzer, Karl;Pengpid, Supa
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권18호
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    • pp.7875-7878
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    • 2014
  • Background: The aim of this study was to investigate the awareness of breast cancer risk factors among female university students in 24 low, middle income and emerging economy countries. A cross-sectional survey was conducted with 10,242 undergraduate university students (mean age 20.7, SD=2.9) from 25 universities in 24 countries across Asia, Africa and the Americas. Using anonymous questionnaires the awareness of links between breast cancer and heredity, diet, overweight, exercise, alcohol use, smoking and stress was assessed. Results indicated that 35.4% of the women were not aware that any of these risk factors could influence breast cancer, 43.8% were aware of a genetic link, and only 12.5%, 10.9% and 10.6% correctly identified alcohol use, overweight and physical inactivity, respectively, as factors causing breast cancer. Moreover, 13.3% rated dietary fat and 11.5% fibre as influencing breast cancer; both low-fat and high-fibre diets may be weakly protective against breast cancer, and smoking (19.4%) and stress (13.5%), the most commonly chosen breast cancer lifestyle risk factors, have less clear impact on breast cancer. There were marked country differences, e.g., in regards of being aware of genetic causes of breast cancer risk in female students from Ivory Coast, India, Madagascar, Nigeria and Laos below 30% and female students from Pakistan, Singapore, Turkey, Grenada and Philippines 60 or more percent. This study provides insight in the breast cancer risk perception of young women, which can be utilized in breast cancer awareness and prevention programmes.

단순반복염기서열의 변이 형태에 따른 위암 내시경 조직의 유전자형 분류 (Classification of Microsatellite Alterations Detected in Endoscopic Biopsy Specimens of Gastric Cancers)

  • 최영덕;최상욱;전은정;정정조;민기옥;이강훈;이성;유문간
    • Journal of Gastric Cancer
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    • 제4권2호
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    • pp.109-120
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    • 2004
  • Purpose: Individual gastric cancers demonstrate complicated genetic alterations. The PCR-based analysis of polymorphic microsatellite sequences on cancer-related chromosomes has been used to detect chromosomal loss and microsatellite instability. For the purpose of preoperative usage, we analyzed the correspondance rate of the microsatellite genotype between endoscopic biopsy and surgical specimens. Materials and Methods: Seventy-three pairs of biopsy and surgical specimens were examined for loss of heterozygosity and microsatellite instability by using 40 microsatellite markers on eight chromosomes. Microsatellite alterations in tumor DNAs were classified into a high-risk group (baselinelevel loss of heterozygosity: 1 chromosomal loss in diffuse type and high-level loss of heterozygosity: 4 or more chromosomal losses) and a low-risk group (microsatellite instability and low-level loss of heterozygosity: 2 or 3 chromosomal losses in diffuse type or $1\∼3$ chromosomal losses in intestinal type) based on the extent of chromosomal loss and microsatellite instability. Results: The chromosomal losses of the biopsy and the surgical specimens were found to be different in 21 of the 73 cases, 19 cases of which were categorized into a genotype group of similar extent. In 100 surgical specimens, the high-risk genotype group showed a high incidence of nodal involvement (19 of 23 cases: $\leq$5 cm; 23 of 24 cases: >5 cm) irrespective of tumor size while the incidence of nodal involvement for the low-risk genotype group depended on tumor size (5 of 26 cases: $\leq$5 cm; 18 of 27 cases: >5 cm). Extraserosal invasion was more frequent in large-sized tumor in both the high-risk genotype group ($\leq$5 cm: 12 of 23 cases; >5 cm: 23 of 24 cases) and the low-risk genotype group ($\leq$5 cm: 7 of 26 cases; >5 cm: 16 of 27 cases). The preoperative prediction of tumor invasion and nodal involvement based on tumor size and genotype corresponded closely to the pathologic tumor stage (ROC area >0.7). Conclusion: An endoscopic biopsy specimen of gastric cancer can be used to make a preoperative genetic diagnosis that accurately reflect the genotype of the corresponding surgical specimen.

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Deep Vein Thrombosis Prophylaxis after Total Hip Arthroplasty in Asian Patients

  • Kim, Jun-Shik
    • Hip & pelvis
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    • 제30권4호
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    • pp.197-201
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    • 2018
  • In Western patient populations, the reported incidence of imaging-demonstrated deep vein thrombosis (DVT) after total hip arthroplasty (THA) is as high as 70% without prophylaxis. The reported rates of symptomatic pulmonary embolism (PE) after THA in recent studies range from 0.6% to 1.5%, and the risk of fatal PE ranges from 0.11% to 0.19% in the absence of prophylaxis. Predisposing factors to DVT in western patients include advanced age, previous venous insufficiency, osteoarthritis, obesity, hyperlipidemia, dietary and genetic factors. However, Asian patients who have undergone THA have a strikingly low prevalence of DVT and virtually no postoperative PE. Some authors suggest low clinical prothrombotic risk factors and the absence of some DVT-related genetic factors in Asian patient populations decrease the risk of DVT, PE or both. In Korea, the prevalence of DVT after THA without thromboprophylaxis have ranges from 6.8% to 43.8%, and asymptomatic PE have ranges from 0% to 12.9%; there have been only two reported cases of fatal PE. Deep-wound infections resulting from postoperative hematomas or prolonged wound drainage have been reported with routine thromboprophylaxis. The prevalence of DVT differs varies based on patient ethnicity. Guidelines for the use of thromboprophylaxis were altered and focus on the potential value of outcomes compared with possible complications (e.g., bleeding).

풍향에 따른 화재영향을 고려한 FPSO 상부구조물 고압가스 모듈내부의 장비 최적배치 연구 (Layout Optimization of FPSO Topside High Pressure Equipment Considering Fire Accidents with Wind Direction)

  • 배정훈;정연욱;신성철;김수영
    • 한국해양공학회지
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    • 제28권5호
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    • pp.404-410
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    • 2014
  • The purpose of this study was to find the optimal arrangement of FPSO equipment in a module while considering the economic value and fire risk. We estimated the economic value using the pipe connections and pump installation cost in an HP (high pressure) gas compression module. The equipment risks were also analyzed using fire scenarios based on historical data. To consider the wind effect during a fire accident, fuzzy modeling was applied to improve the accuracy of the analysis. The objective functions consisted of the economic value and fire risk, and the constraints were the equipment maintenance and weight balance of the module. We generated a Pareto-optimal front group using a multi-objective GA (genetic algorithm) and suggested an equipment arrangement method that included the opinions of the designer.

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/Adult Acute Lymphoblastic Leukemia in Omani Patients

  • Goud, Tadakal Mallana;Al Salmani, Kamla Khalfan;Al Harasi, Salma Mohammed;Al Musalhi, Muhanna;Wasifuddin, Shah Mohammed;Rajab, Anna
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권16호
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    • pp.7343-7350
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    • 2015
  • Genetic changes associated with acute lymphoblastic leukemia (ALL) provide very important diagnostic and prognostic information with a direct impact on patient management. Detection of chromosome abnormalities by conventional cytogenetics combined with fluorescence in situ hybridization (FISH) play a very significant role in assessing risk stratification. Identification of specific chromosome abnormalities has led to the recognition of genetic subgroups based on reciprocal translocations, deletions and modal number in B or T-cell ALL. In the last twelve years 102 newly diagnosed childhood/adult ALL bone marrow samples were analysed for chromosomal abnormalities with conventional G-banding, and FISH (selected cases) using specific probes in our hospital. G-banded karyotype analysis found clonal numerical and/or structural chromosomal aberrations in 74.2% of cases. Patients with pseudodiploidy represented the most frequent group (38.7%) followed by high hyperdiploidy group (12.9%), low hyperdiploidy group (9.7%), hypodiploidy (<46) group (9.7%) and high hypertriploidy group (3.2%). The highest observed numerical chromosomal alteration was high hyperdiploidy (12.9%) with abnormal karyotypes while abnormal 12p (7.5%) was the highest observed structural abnormality followed by t(12;21)(p13.3;q22) resulting in ETV6/RUNX1 fusion (5.4%) and t(9;22)(q34.1;q11.2) resulting in BCR/ABL1 fusion (4.3%). Interestingly, we identified 16 cases with rare and complex structural aberrations. Application of the FISH technique produced major improvements in the sensitivity and accuracy of cytogenetic analysis with ALL patients. In conclusion it confirmed heterogeneity of ALL by identifying various recurrent chromosomal aberrations along with non-specific rearrangements and their association with specific immunophenotypes. This study pool is representative of paediatric/adult ALL patients in Oman.

Cytogenetic and Genetic Mutation Features of de novo Acute Myeloid Leukemia in Elderly Chinese Patients

  • Su, Long;Li, Xian;Gao, Su-Jun;Yu, Ping;Liu, Xiao-Liang;Tan, Ye-Hui;Liu, Ying-Min
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권2호
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    • pp.895-898
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    • 2014
  • Objectives: The present study aimed to examine the cytogenetic and genetic mutation features of acute myeloid leukemia (AML) in elderly Chinese patients. Methods: A retrospective analysis of cytogenetics and genetic mutations was performed in 113 cases (age range 50-82 years) with de novo AML. Results: The most frequent cytogenetic abnormality was t (15;17) (q22;q21), detected in 10.0% (n = 9) of successfully analyzed cases, followed by t (8;21) (q22;q22) in 8.89% (n = 8), and complex karyotypes in 5.56% (n = 5). Those with complex karyotypes included 4 cases (4.44%) of monosomal karyotypes. The frequencies of NPM1, FLT3-ITD, c-kit, and CEBPA mutations were 27.4% (31/113), 14.5% (16/110), 5.88% (6/102), and 23.3% (7/30), respectively. The complete remission rates of patients in low, intermediate, and high risk groups were 37.5%, 48.6%, and 33.3%, respectively (${\chi}^2$ = 0.704, P = 0.703) based on risk stratification. Conclusion: Cytogenetics and genetic mutations alone may not be sufficient to evaluate the prognoses of elderly AML patients. The search for a novel model that would enable a more comprehensive evaluation of this population is therefore imperative.

Genetic diversity analysis of Thai indigenous pig population using microsatellite markers

  • Charoensook, Rangsun;Gatphayak, Kesinee;Brenig, Bertram;Knorr, Christoph
    • Asian-Australasian Journal of Animal Sciences
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    • 제32권10호
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    • pp.1491-1500
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    • 2019
  • Objective: European pigs have been imported to improve the economically important traits of Thai pigs by crossbreeding and was finally completely replaced. Currently Thai indigenous pigs are particularly kept in a small population. Therefore, indigenous pigs risk losing their genetic diversity and identity. Thus, this study was conducted to perform large-scale genetic diversity and phylogenetic analyses on the many pig breeds available in Thailand. Methods: Genetic diversity and phylogenetics analyses of 222 pigs belonging to Thai native pigs (TNP), Thai wild boars (TWB), European commercial pigs, commercial crossbred pigs, and Chinese indigenous pigs were investigated by genotyping using 26 microsatellite markers. Results: The results showed that Thai pig populations had a high genetic diversity with mean total and effective ($N_e$) number of alleles of 14.59 and 3.71, respectively, and expected heterozygosity ($H_e$) across loci (0.710). The polymorphic information content per locus ranged between 0.651 and 0.914 leading to an average value above all loci of 0.789, and private alleles were found in six populations. The higher $H_e$ compared to observed heterozygosity ($H_o$) in TNP, TWB, and the commercial pigs indicated some inbreeding within a population. The Nei's genetic distance, mean $F_{ST}$ estimates, neighbour-joining tree of populations and individual, as well as multidimensional analysis indicated close genetic relationship between Thai indigenous pigs and some Chinese pigs, and they are distinctly different from European pigs. Conclusion: Our study reveals a close genetic relationship between TNP and Chinese pigs. The genetic introgression from European breeds is found in some TNP populations, and signs of genetic erosion are shown. Private alleles found in this study should be taken into consideration for the breeding program. The genetic information from this study will be a benefit for both conservation and utilization of Thai pig genetic resources.

Genetic Symmetric Key Generation for IDEA

  • Malhotra, Nandini;Nagpal, Geeta
    • Journal of Information Processing Systems
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    • 제11권2호
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    • pp.239-247
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    • 2015
  • Cryptography aims at transmitting secure data over an unsecure network in coded version so that only the intended recipient can analyze it. Communication through messages, emails, or various other modes requires high security so as to maintain the confidentiality of the content. This paper deals with IDEA's shortcoming of generating weak keys. If these keys are used for encryption and decryption may result in the easy prediction of ciphertext corresponding to the plaintext. For applying genetic approach, which is well-known optimization technique, to the weak keys, we obtained a definite solution to convert the weaker keys to stronger ones. The chances of generating a weak key in IDEA are very rare, but if it is produced, it could lead to a huge risk of attacks being made on the key, as well as on the information. Hence, measures have been taken to safeguard the key and to ensure the privacy of information.

Association of CAPN10 gene (rs3842570) polymorphism with the type 2 diabetes mellitus among the population of Noakhali region in Bangladesh: a case-control study

  • Munia Sultana;Md. Mafizul Islam;Md. Murad Hossain;Md. Anisur Rahman;Shuvo Chandra Das;Dhirendra Nath Barman;Farhana Siddiqi Mitu;Shipan Das Gupta
    • Genomics & Informatics
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    • 제21권3호
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    • pp.33.1-33.11
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    • 2023
  • Type 2 diabetes mellitus (T2DM) is a multifactorial, polygenic, and metabolically complicated disease. A large number of genes are responsible for the biogenesis of T2DM and calpain10 (CAPN10) is one of them. The association of numerous CAPN10 genetic polymorphisms in the development of T2DM has been widely studied in different populations and noticed inconclusive results. The present study is an attempt to evaluate the plausible association of CAPN10 polymorphism SNP-19 (rs3842570) with T2DM and T2DM-related anthropometric and metabolic traits in the Noakhali region of Bangladesh. This case-control study included 202 T2DM patients and 75 healthy individuals from different places in Noakhali. A significant association (p < 0.05) of SNP-19 with T2DM in co-dominant 2R/3R vs. 3R/3R (odds ratio [OR], 2.7; p=0.0014) and dominant (2R/3R) + (2R/2R) vs. 3R/3R (OR, 2.47; p=0.0011) genetic models was observed. High-risk allele 2R also showed a significant association with T2DM in the allelic model (OR, 1.67; p=0.0109). The genotypic frequency of SNP-19 variants showed consistency with Hardy-Weinberg equilibrium (p > 0.05). Additionally, SNP-19 genetic variants showed potential associations with the anthropometric and metabolic traits of T2DM patients in terms of body mass index, systolic blood pressure, diastolic blood pressure, total cholesterol, and triglycerides. Our approach identifies the 2R/3R genotype of SNP-19 as a significant risk factor for biogenesis of T2DM in the Noakhali population. Furthermore, a large-scale study could be instrumental to correlate this finding in overall Bangladeshi population.

Pseudogenes: Nuances and Nuisances in Molecular Diagnostics

  • Oh, Seung Hwan
    • Journal of Interdisciplinary Genomics
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    • 제4권2호
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    • pp.19-23
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    • 2022
  • Pseudogenes are genomic regions that contain gene-like sequences that have a high similarity to the known genes but are nonfunctional. They are categorized into processed, unprocessed, and unitary pseudogenes. Unprocessed pseudogenes generated by duplications can be problematic in sequencing approaches in molecular diagnostics. We discuss the risk of misdiagnosis when investigating genes with pseudogenes of high homology, and describe a method for identifying these small and annoying differences between parent genes and pseudogenes, including parent gene-specific assay design.