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  1. Nurse Jackie and the politics of care.

    Science.gov (United States)

    McHugh, Kathleen

    2012-01-01

    This essay considers Nurse Jackie, one of several recent television shows, including HawthoRNe, and Mercy, that features a nurse as the main character. All 3 shows premiered in 2009 and challenged nursing's longstanding invisibility and misrepresentation on television. Although the plots of each show corrected problematic aspects of nursing's usual media representation, only Nurse Jackie remains on the air. In this paper, I analyze why Nurse Jackie succeeded where the other 2 shows did not, considering the representational politics of care on television and in the national context where health care remains a significant concern. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. Jackie Steals Home. Learning Page Lesson Plan.

    Science.gov (United States)

    Pulda, Arnold

    In this lesson, students draw on their previous studies of American history and culture as they analyze primary sources from "Jackie Robinson and Other Baseball Highlights, 1860s-1960s" in the American Memory collection. A close reading of two documents relating to Jackie Robinson's breaking of the racial barrier in professional baseball…

  3. The Jackie Robinson I Remember.

    Science.gov (United States)

    Kahn, Roger

    1997-01-01

    This memoir describes Jackie Robinson's historic career as the first black player in major league baseball, emphasizing his courage and determination in the face of racism, and recounting the background to his entry into baseball. (SLD)

  4. Beyond the Playing Field: Jackie Robinson, Civil Rights Advocate. Lesson Plan.

    Science.gov (United States)

    National Archives and Records Administration, Washington, DC.

    This packet provides primary source documents and lesson plans relating to the study of Jackie Robinson as a civil rights advocate. The legendary baseball player, Jack Roosevelt Robinson, was the first black man to "officially" play in the big leagues in the 20th century. Jackie Robinson was not only a stellar baseball player, but he…

  5. Jackie Robinson, President Eisenhower, and the Little Rock Crisis.

    Science.gov (United States)

    Vernon, John; And Others

    1997-01-01

    Presents background information and instructional materials for a lesson plan concerning the interaction between Jackie Robinson and President Eisenhower regarding the integration of public schools in Little Rock, Arkansas. Robinson chided the President for his cautious response to violent opposition to integration. Includes a copy of the…

  6. Extracolonic Manifestations of Lynch Syndrome

    OpenAIRE

    Bansidhar, Brian J.

    2012-01-01

    Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolon...

  7. Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

    Science.gov (United States)

    Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

    2015-11-01

    Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Computer-animated stimuli to measure motion sensitivity: constraints on signal design in the Jacky dragon.

    Science.gov (United States)

    Woo, Kevin L; Rieucau, Guillaume; Burke, Darren

    2017-02-01

    Identifying perceptual thresholds is critical for understanding the mechanisms that underlie signal evolution. Using computer-animated stimuli, we examined visual speed sensitivity in the Jacky dragon Amphibolurus muricatus , a species that makes extensive use of rapid motor patterns in social communication. First, focal lizards were tested in discrimination trials using random-dot kinematograms displaying combinations of speed, coherence, and direction. Second, we measured subject lizards' ability to predict the appearance of a secondary reinforcer (1 of 3 different computer-generated animations of invertebrates: cricket, spider, and mite) based on the direction of movement of a field of drifting dots by following a set of behavioural responses (e.g., orienting response, latency to respond) to our virtual stimuli. We found an effect of both speed and coherence, as well as an interaction between these 2 factors on the perception of moving stimuli. Overall, our results showed that Jacky dragons have acute sensitivity to high speeds. We then employed an optic flow analysis to match the performance to ecologically relevant motion. Our results suggest that the Jacky dragon visual system may have been shaped to detect fast motion. This pre-existing sensitivity may have constrained the evolution of conspecific displays. In contrast, Jacky dragons may have difficulty in detecting the movement of ambush predators, such as snakes and of some invertebrate prey. Our study also demonstrates the potential of the computer-animated stimuli technique for conducting nonintrusive tests to explore motion range and sensitivity in a visually mediated species.

  9. Fitness Assessment Comparison Between the "Jackie Chan Action Run" Videogame, 1-Mile Run/Walk, and the PACER.

    Science.gov (United States)

    Haddock, Bryan; Siegel, Shannon; Costa, Pablo; Jarvis, Sarah; Klug, Nicholas; Medina, Ernie; Wilkin, Linda

    2012-06-01

    The purpose of this study was to examine whether a correlation existed among the scores of the "Jackie Chan Studio Fitness(™) Action Run" active videogame (XaviX(®), SSD Company, Ltd., Kusatsu, Japan), the 1-mile run/walk, and Progressive Aerobic Cardiovascular Endurance Run (PACER) aerobic fitness tests of the FITNESSGRAM(®) (The Cooper Institute, Dallas, TX) in order to provide a potential alternative testing method for days that are not environmentally desirable for outdoor testing. Participants were a convenience sample from physical education classes of students between the ages of 10 and 15 years. Participants (n=108) were randomly assigned to one of three groups with the only difference being the order of testing. The tests included the "Jackie Chan Action Run" active videogame, the 1-mile run/walk, and the PACER. Testing occurred on three different days during the physical education class. Rating of perceived exertion (RPE) was reported. Significant correlations (r=-0.598 to 0.312) were found among the three aerobic fitness tests administered (P<0.05). The RPE for the "Jackie Chan Action Run" was lower than the RPE for the 1-mile run/walk and the PACER (3.81±1.89, 5.93±1.77, and 5.71±2.14, respectively). The results suggest that the "Jackie Chan Action Run" test could be an alternative to the 1-mile run/walk and PACER, allowing physical education teachers to perform aerobic fitness testing in an indoor setting that requires less space. Also, children may be more willing to participate in the "Jackie Chan Action Run" based on the lower RPE.

  10. Lynch syndrome: the patients' perspective

    NARCIS (Netherlands)

    Seppen, Jurgen; Bruzzone, Linda

    2013-01-01

    People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted

  11. A Light Touch to Learning: Jackie Robinson Middle School, New Haven, Ct.

    Science.gov (United States)

    Progressive Architecture, 1979

    1979-01-01

    The architectural design of Jackie Robinson Middle School in New Haven, Connecticut, minimizes the school's size by siting it to reveal only one level at its entrance. Extensive use of transparent and translucent materials projects openness and light. (Author/MLF)

  12. Lynch Syndrome: An Updated Review

    Directory of Open Access Journals (Sweden)

    Rishabh Sehgal

    2014-06-01

    Full Text Available Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.

  13. Lynch syndrome-related small intestinal adenocarcinomas.

    Science.gov (United States)

    Jun, Sun-Young; Lee, Eui-Jin; Kim, Mi-Ju; Chun, Sung Min; Bae, Young Kyung; Hong, Soon Uk; Choi, Jene; Kim, Joon Mee; Jang, Kee-Taek; Kim, Jung Yeon; Kim, Gwang Il; Jung, Soo Jin; Yoon, Ghilsuk; Hong, Seung-Mo

    2017-03-28

    Lynch syndrome is an autosomal-dominant disorder caused by defective DNA mismatch repair (MMR) genes and is associated with increased risk of malignancies in multiple organs. Small-intestinal adenocarcinomas are common initial manifestations of Lynch syndrome. To define the incidence and characteristics of Lynch syndrome-related small-intestinal adenocarcinomas, meticulous familial and clinical histories were obtained from 195 patients with small-intestinal adenocarcinoma, and MMR protein immunohistochemistry, microsatellite instability, MLH1 methylation, and germline mutational analyses were performed. Lynch syndrome was confirmed in eight patients (4%), all of whom had synchronous/metachronous malignancies without noticeable familial histories. Small-intestinal adenocarcinomas were the first clinical manifestation in 37% (3/8) of Lynch syndrome patients, and second malignancies developed within 5 years in 63% (5/8). The patients with accompanying Lynch syndrome were younger (≤50 years; P=0.04) and more likely to have mucinous adenocarcinomas (P=0.003), and tended to survive longer (P=0.11) than those with sporadic cases. A meticulous patient history taking, MMR protein immunolabeling, and germline MMR gene mutational analysis are important for the diagnosis of Lynch syndrome-related small-intestinal adenocarcinomas. Identifying Lynch syndrome in patients with small-intestinal adenocarcinoma can be beneficial for the early detection and treatment of additional Lynch syndrome-related cancers, especially in patients who are young or have mucinous adenocarcinomas.

  14. Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer

    Science.gov (United States)

    Carethers, John M; Stoffel, Elena M

    2015-01-01

    Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management. PMID:26309352

  15. Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.

    Science.gov (United States)

    Carethers, John M; Stoffel, Elena M

    2015-08-21

    Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management.

  16. The Dark Knight Rises: In "42" Jackie Robinson Saves the American Dream

    Science.gov (United States)

    Beck, Bernard

    2014-01-01

    The movie "42" shows memorable events that have faded from our view in recent years. The events are important to the evolution of a multicultural society in America because of the importance of baseball to the common national culture that all the American people have created. Jackie Robinson's significance as a cultural hero is…

  17. Genetic counseling and cascade genetic testing in Lynch syndrome.

    Science.gov (United States)

    Hampel, Heather

    2016-07-01

    Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.

  18. New York Newspaper Coverage of Jackie Robinson in His First Major League Season.

    Science.gov (United States)

    Washburn, Pat

    Sports articles appearing in three New York City newspapers in Jackie Robinson's first season as a major league baseball player were examined to determine if there was biased reporting based on racial prejudice. The sports pages of the New York "Times," the "Herald Tribune," and the "Daily News" for 44 days in 1947…

  19. Childhood cancers in families with and without Lynch syndrome.

    Science.gov (United States)

    Heath, John A; Reece, Jeanette C; Buchanan, Daniel D; Casey, Graham; Durno, Carol A; Gallinger, Steven; Haile, Robert W; Newcomb, Polly A; Potter, John D; Thibodeau, Stephen N; Le Marchand, Loïc; Lindor, Noralane M; Hopper, John L; Jenkins, Mark A; Win, Aung Ko

    2015-12-01

    Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). There was no evidence of a difference in the proportion of relatives with a childhood cancer between Lynch syndrome families (41/17,230; 0.24%) and non-Lynch syndrome families (179/94,302; 0.19%; p = 0.19). Incidence rate of all childhood cancers was estimated to be 147 (95% CI 107-206) per million population per year in Lynch syndrome families and 115 (95% CI 99.1-134) per million population per year in non-Lynch syndrome families. There was no evidence for a significant increase in the risk of all childhood cancers, hematologic cancers, brain and central nervous system cancers, Lynch syndrome-associated cancers, or other cancers in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families.

  20. Features of ovarian cancer in Lynch syndrome (Review).

    Science.gov (United States)

    Nakamura, Kanako; Banno, Kouji; Yanokura, Megumi; Iida, Miho; Adachi, Masataka; Masuda, Kenta; Ueki, Arisa; Kobayashi, Yusuke; Nomura, Hiroyuki; Hirasawa, Akira; Tominaga, Eiichiro; Aoki, Daisuke

    2014-11-01

    Lynch syndrome is a hereditary ovarian cancer with a prevalence of 0.9-2.7%. Lynch syndrome accounts for 10-15% of hereditary ovarian cancers, while hereditary breast and ovarian cancer syndrome accounts for 65-75% of these cancers. The lifetime risk for ovarian cancer in families with Lynch syndrome is ~8%, which is lower than colorectal and endometrial cancers, and ovarian cancer is not listed in the Amsterdam Criteria II. More than half of sporadic ovarian cancers are diagnosed in stage III or IV, but ≥80% of ovarian cancers in Lynch syndrome are diagnosed in stage I or II. Ovarian cancers in Lynch syndrome mostly have non-serous histology and different properties from those of sporadic ovarian cancers. A screening method for ovarian cancers in Lynch syndrome has yet to be established and clinical studies of prophylactic administration of oral contraceptives are not available. However, molecular profiles at the genetic level indicate that ovarian cancer in Lynch syndrome has a more favorable prognosis than sporadic ovarian cancer. Inhibitors of the phosphatidylinositol 3-kinase/mammalian target of the rapamycin pathway and anti-epidermal growth factor antibodies may have efficacy for the disease. To the best of our knowledge, this is the first review focusing on ovarian cancer in Lynch syndrome.

  1. Lynch syndrome-associated neoplasms

    DEFF Research Database (Denmark)

    Shia, Jinru; Holck, Susanne; Depetris, Giovanni

    2013-01-01

    It was a century ago that Warthin, a pathologist, first described the clinical condition now known as Lynch syndrome. One hundred years later, our understanding of this syndrome has advanced significantly. Much of the progress took place over the last 25 years and was marked by a series...... of interacting developments from the disciplines of clinical oncology, pathology, and molecular genetics, with each development serving to guide or enhance the next. The advancement of our understanding about the pathology of Lynch syndrome associated tumors exemplifies such intimate interplay among disciplines....... Today, accumulative knowledge has enabled surgical pathologists to detect tumors that are likely to be associated with Lynch syndrome, and the pathologist is playing an increasingly more important role in the care of these patients. The pathologist's ability is afforded primarily by information gained...

  2. Diagnosing Lynch Syndrome

    LENUS (Irish Health Repository)

    Gleeson, J

    2016-11-01

    Lynch Syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is a hereditary condition that increases an individual’s risk of developing a constellation of cancers. These most commonly arise in the colon, but also involve other solid organs such as the endometrium and ovaries in women, the stomach, brain and the skin. Ireland’s small population offers an opportunity to identify all those with Lynch Syndrome (LS) in the country, which would represent a powerful preventive opportunity to meaningfully impact on the incidence of cancer in Ireland.

  3. Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.

    Science.gov (United States)

    Ahadova, Aysel; Gallon, Richard; Gebert, Johannes; Ballhausen, Alexej; Endris, Volker; Kirchner, Martina; Stenzinger, Albrecht; Burn, John; von Knebel Doeberitz, Magnus; Bläker, Hendrik; Kloor, Matthias

    2018-07-01

    Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes. MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch syndrome colorectal cancers. Recently, this concept has been challenged by the discovery of MMR-deficient crypt foci in the normal mucosa. We aimed to reconstruct colorectal carcinogenesis in Lynch syndrome by collecting molecular and histology evidence from Lynch syndrome adenomas and carcinomas. We determined the frequency of MMR deficiency in adenomas from Lynch syndrome mutation carriers by immunohistochemistry and by systematic literature analysis. To trace back the pathways of pathogenesis, histological growth patterns and mutational signatures were analyzed in Lynch syndrome colorectal cancers. Literature and immunohistochemistry analysis demonstrated MMR deficiency in 491 (76.7%) out of 640 adenomas (95% CI: 73.3% to 79.8%) from Lynch syndrome mutation carriers. Histologically normal MMR-deficient crypts were found directly adjacent to dysplastic adenoma tissue, proving their role as tumor precursors in Lynch syndrome. Accordingly, mutation signature analysis in Lynch colorectal cancers revealed that KRAS and APC mutations commonly occur after the onset of MMR deficiency. Tumors lacking evidence of polypous growth frequently presented with CTNNB1 and TP53 mutations. Our findings demonstrate that Lynch syndrome colorectal cancers can develop through three pathways, with MMR deficiency commonly representing an early and possibly initiating event. This underlines that targeting MMR-deficient cells by chemoprevention or vaccines against MMR deficiency-induced frameshift peptide neoantigens holds promise for tumor prevention in Lynch syndrome. © 2018 UICC.

  4. Milestones of Lynch syndrome: 1895-2015.

    Science.gov (United States)

    Lynch, Henry T; Snyder, Carrie L; Shaw, Trudy G; Heinen, Christopher D; Hitchins, Megan P

    2015-03-01

    Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer condition, is characterized by the predisposition to a spectrum of cancers, primarily colorectal cancer and endometrial cancer. We chronicle over a century of discoveries that revolutionized the diagnosis and clinical management of Lynch syndrome, beginning in 1895 with Warthin's observations of familial cancer clusters, through the clinical era led by Lynch and the genetic era heralded by the discovery of causative mutations in mismatch repair (MMR) genes, to ongoing challenges.

  5. Modernization and Lynching in the New South

    Directory of Open Access Journals (Sweden)

    Mattias Smångs

    2016-09-01

    Full Text Available This article evaluates an emerging body of historical scholarship that challenges prevailing views of the primacy of rural conditions in southern lynching by positing that it was symbiotically associated with the processes of modernization underway in the region in the decades around 1900. Statistical analyses of lynching data that differentiate among events according to communal participation, support, and ceremony in Georgia and Louisiana from 1882 to 1930 and local-level indices of modernization (urbanization, rural depopulation, industrialization, agricultural commercialization, and dissolution of traditional family roles yield results that both support and contradict such a modernization thesis of lynching. The findings imply that the consequences of the social transformation in the South coinciding with the lynching era were not uniform throughout the region with regard to racial conflict and violence and that broad arguments proposing an intrinsic connection between modernization and lynchings therefore are overstated.

  6. Lynch Syndrome: A Primer for Urologists and Panel Recommendations.

    Science.gov (United States)

    Mork, Maureen; Hubosky, Scott G; Rouprêt, Morgan; Margulis, Vitaly; Raman, Jay; Lotan, Yair; O'Brien, Timothy; You, Nancy; Shariat, Shahrokh F; Matin, Surena F

    2015-07-01

    Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is a common genetic disease. The predisposition of patients with Lynch syndrome to urological cancer, particularly upper tract urothelial carcinoma, is underappreciated. Urologists may be involved in several aspects of care involving Lynch syndrome, including identifying undiagnosed patients, surveillance of those with established Lynch syndrome or screening family members, in addition to treating patients with Lynch syndrome in whom upper tract urothelial carcinoma develops. We sought to increase awareness in the urological community about Lynch syndrome and provide some guidance where little currently exists. Using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement we reviewed the available published literature and guidelines from 1998 to 2014 on Lynch syndrome and its association with upper tract urothelial carcinoma. Recommendations based on the literature and the consensus of expert opinion are provided. No randomized or prospective study has been done to evaluate Lynch syndrome in the setting of urological cancer. All data were based on retrospective studies. Lynch syndrome is an autosomal dominant genetic disease caused by germline mutations in 4 mismatch repair genes, leading to the accumulation of DNA errors in microsatellite regions. Upper tract urothelial carcinoma develops in up to 28% of patients with known Lynch syndrome. The diagnosis of Lynch syndrome is established by clinical criteria, tumor tissue testing and genetic evaluation. Urologists should suspect Lynch syndrome when a patient with upper tract urothelial carcinoma presents before age 60 years or meets the 3-2-1 rule. Screening patients with Lynch syndrome for upper tract urothelial carcinoma presents a particular challenge. While no ideal screening test exists, at a minimum routine urinalysis is recommended using the American Urological Association guideline of 3 or more red

  7. Lynch Syndrome: Genomics Update and Imaging Review.

    Science.gov (United States)

    Cox, Veronica L; Saeed Bamashmos, Anas A; Foo, Wai Chin; Gupta, Shiva; Yedururi, Sireesha; Garg, Naveen; Kang, Hyunseon Christine

    2018-01-01

    Lynch syndrome is the most common hereditary cancer syndrome, the most common cause of heritable colorectal cancer, and the only known heritable cause of endometrial cancer. Other cancers associated with Lynch syndrome include cancers of the ovary, stomach, urothelial tract, and small bowel, and less frequently, cancers of the brain, biliary tract, pancreas, and prostate. The oncogenic tendency of Lynch syndrome stems from a set of genomic alterations of mismatch repair proteins. Defunct mismatch repair proteins cause unusually high instability of regions of the genome called microsatellites. Over time, the accumulation of mutations in microsatellites and elsewhere in the genome can affect the production of important cellular proteins, spurring tumorigenesis. Universal testing of colorectal tumors for microsatellite instability (MSI) is now recommended to (a) prevent cases of Lynch syndrome being missed owing to the use of clinical criteria alone, (b) reduce morbidity and mortality among the relatives of affected individuals, and (c) guide management decisions. Organ-specific cancer risks and associated screening paradigms vary according to the sex of the affected individual and the type of germline DNA alteration causing the MSI. Furthermore, Lynch syndrome-associated cancers have different pathologic, radiologic, and clinical features compared with their sporadic counterparts. Most notably, Lynch syndrome-associated tumors tend to be more indolent than non-Lynch syndrome-associated neoplasms and thus may respond differently to traditional chemotherapy regimens. The high MSI in cases of colorectal cancer reflects a difference in the biologic features of the tumor, possibly with a unique susceptibility to immunotherapy. © RSNA, 2018.

  8. Ballplayer or barrier breaker? Branding through the seven statues of Jackie Robinson

    OpenAIRE

    Stride, C.; Thomas, F.; Smith, M.M.

    2014-01-01

    Jackie Robinson is the baseball player most frequently depicted by a public statue within the USA, a ubiquity explained by his unique position as barrier breaker of the Major League colour bar. Utilising a detailed inspection of statue designs, locations and inscriptions, and comparisons with wider baseball statuary, Robinson's monuments reveal a distinctive set of cultural projections. These are commemorations distinguished by their age, location away from MLB ballparks, lack of action poses...

  9. Upper urinary tract carcinoma in Lynch syndrome cases.

    Science.gov (United States)

    Crockett, David G; Wagner, David G; Holmäng, Sten; Johansson, Sonny L; Lynch, Henry T

    2011-05-01

    Patients with Lynch syndrome are much more likely to have generally rare upper urinary tract urothelial carcinoma but not bladder urothelial carcinoma. While the risk has been quantified, to our knowledge there is no description of how this population of patients with Lynch syndrome and upper urinary tract cancer differs from the general population with upper urinary tract cancer. We obtained retrospective data on a cohort of patients with Lynch syndrome from the Hereditary Cancer Center in Omaha, Nebraska and compared the data to those on a control general population from western Sweden. These data were supplemented by a new survey about exposure to known risk factors. Of the patients with Lynch syndrome 91% had mutations in MSH2 rather than in MSH1 and 79% showed upper tract urothelial carcinoma a mean of 15.85 years after prior Lynch syndrome-type cancer. Median age at diagnosis was 62 years vs 70 in the general population (p Lynch syndrome 51% had urothelial carcinoma in the ureter while it occurred in the renal pelvis in 65% of the general population (p = 0.0013). Similar numbers of high grade tumors were found in the Lynch syndrome and general populations (88% and 74%, respectively, p = 0.1108). Upper urinary tract tumors develop at a younger age and are more likely to be in the ureter with an almost equal gender ratio in patients with Lynch syndrome. It has high grade potential similar to that in the general population. Copyright © 2011 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  10. Advances in the study of Lynch syndrome in China.

    Science.gov (United States)

    Lu, Jun-Yu; Sheng, Jian-Qiu

    2015-06-14

    Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant genetic condition that has a high risk of colon cancer as well as other cancers due to inherited mutations in mismatch repair (MMR) genes. During the last decades, there have been great advances in research on Chinese Lynch syndrome. This review mainly focuses on the genetic basis, clinicopathologic features, diagnosis, intervention, chemoprevention, and surveillance of Lynch syndrome in China. In addition to frequently altered MMR genes, such as MLH1, MSH2, MSH6, and MLH3, other MMR-associated genes, such as those encoding human exonuclease 1, transforming growth factor β receptor 2, and alanine aminopeptidase, metastasis-associated protein 2, adenomatosis polyposis coli down-regulated 1, and hepatic and glial cell adhesion molecule have also been implicated in Chinese Lynch syndrome. Most Chinese researchers focused on the clinicopathologic features of Lynch syndrome, and it is noticeable that the most frequent extracolonic tumor in northeast China is lung cancer, which is different from other areas in China. The Chinese diagnostic criteria for Lynch syndrome have been established to identify gene mutation or methylation. With regard to chemoprevention, celecoxib may be effective to prevent polyps relapse in Lynch syndrome carriers. Additionally, a colonoscopy-based surveillance strategy for the prevention and early detection of neoplasms in Lynch-syndrome carriers has been proposed.

  11. Results for the Brine Evaporation Bag (BEB) Brine Processing Test

    Science.gov (United States)

    Delzeit, Lance; Flynn, Michael; Fisher, John; Shaw, Hali; Kawashima, Brian; Beeler, David; Howard, Kevin

    2015-01-01

    The recent Brine Processing Test compared the NASA Forward Osmosis Brine Dewatering (FOBD), Paragon Ionomer Water Processor (IWP), UMPQUA Ultrasonic Brine Dewatering System (UBDS), and the NASA Brine Evaporation Bag (BEB). This paper reports the results of the BEB. The BEB was operated at 70 deg C and a base pressure of 12 torr. The BEB was operated in a batch mode, and processed 0.4L of brine per batch. Two different brine feeds were tested, a chromic acid-urine brine and a chromic acid-urine-hygiene mix brine. The chromic acid-urine brine, known as the ISS Alternate Pretreatment Brine, had an average processing rate of 95 mL/hr with a specific power of 5kWhr/L. The complete results of these tests will be reported within this paper.

  12. Molecular subtype classification of urothelial carcinoma in Lynch syndrome.

    Science.gov (United States)

    Therkildsen, Christina; Eriksson, Pontus; Höglund, Mattias; Jönsson, Mats; Sjödahl, Gottfrid; Nilbert, Mef; Liedberg, Fredrik

    2018-05-23

    Lynch syndrome confers an increased risk for urothelial carcinoma (UC). Molecular subtypes may be relevant to prognosis and therapeutic possibilities, but have to date not been defined in Lynch syndrome-associated urothelial cancer. We aimed to provide a molecular description of Lynch syndrome-associated UC. Thus, Lynch syndrome-associated UC of the upper urinary tract and the urinary bladder were identified in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register and were transcriptionally and immunohistochemically profiled and further related to data from 307 sporadic urothelial carcinomas. Whole genome mRNA expression profiles of 41 tumors and immunohistochemical stainings against FGFR3, KRT5, CCNB1, RB1, and CDKN2A (p16) of 37 tumors from Lynch syndrome patients were generated. Pathological data, microsatellite instability, anatomic location, and overall survival data was analyzed and compared with sporadic bladder cancer. The 41 Lynch syndrome-associated UC developed at a mean age of 61 years with 59% women. mRNA expression profiling and immunostaining classified the majority of the Lynch syndrome-associated UC as Urothelial-like tumors with only 20% being Genomically Unstable, Basal/SCC-like or other subtypes. The subtypes were associated with stage, grade, and microsatellite instability. Comparison to larger data sets revealed that Lynch syndrome-associated UC share molecular similarities with sporadic UC. In conclusion, transcriptomic and immunohistochemical profiling identifies a predominance of the Urothelial-like molecular subtype in Lynch syndrome and reveals that the molecular subtypes of sporadic bladder cancer are relevant also within this hereditary, mismatch-repair defective subset. This article is protected by copyright. All rights reserved. Molecular Oncology (2018) © 2018 The Authors. Published by FEBS Press and John Wiley & Sons Ltd.

  13. Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population.

    Science.gov (United States)

    Chika, Noriyasu; Eguchi, Hidetaka; Kumamoto, Kensuke; Suzuki, Okihide; Ishibashi, Keiichiro; Tachikawa, Tetsuhiko; Akagi, Kiwamu; Tamaru, Jun-Ichi; Okazaki, Yasushi; Ishida, Hideyuki

    2017-02-09

    We investigated the prevalence of Lynch syndrome and Lynch-like syndrome among Japanese colorectal cancer patients, as there have been no credible data from Japan. Immunohistochemical analyses for mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) were carried out in surgically resected, formalin-fixed paraffin-embedded specimens obtained from 1,234 newly diagnosed colorectal cancer patients between March 2005 and April 2014. The presence/absence of the BRAF V600E mutation and hypermethylation of the MLH1 promoter was analyzed where necessary. Genetic testing was finally undertaken in patients suspected as having Lynch syndrome. By the universal screening approach with immunohistochemical analysis for mismatch repair proteins followed by analyses for the BRAF V600E mutation and MLH1 promoter methylation status, 11 (0.9%) of the 1,234 patients were identified as candidates for genetic testing. Out of the 11 patients, 9 (0.7%) were finally diagnosed as having Lynch syndrome; the responsible genes included MLH1 (n = 1), MSH2 (n = 4), EPCAM (n = 1) and MSH6 (n = 3). The remaining two patients (0.2%) were regarded as having Lynch-like syndrome, since biallelic somatic deletion of the relevant mismatch repair genes was detected in the absence of germline mismatch repair alterations. None of the cases was identified as having germline MLH1 epimutation. The prevalence of Lynch syndrome among all newly diagnosed cases of colorectal cancer in Japan is in the same range as that recently reported by studies in Western population. The prevalence of Lynch-like syndrome seems to be extremely low. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  14. Molecular subtype classification of urothelial carcinoma in Lynch syndrome

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Eriksson, Pontus; Höglund, Mattias

    2018-01-01

    Lynch syndrome confers an increased risk for urothelial carcinoma (UC). Molecular subtypes may be relevant to prognosis and therapeutic possibilities, but have to date not been defined in Lynch syndrome-associated urothelial cancer. We aimed to provide a molecular description of Lynch syndrome......-associated UC. Thus, Lynch syndrome-associated UC of the upper urinary tract and the urinary bladder were identified in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register and were transcriptionally and immunohistochemically profiled and further related to data from 307 sporadic urothelial...... carcinomas. Whole genome mRNA expression profiles of 41 tumors and immunohistochemical stainings against FGFR3, KRT5, CCNB1, RB1, and CDKN2A (p16) of 37 tumors from Lynch syndrome patients were generated. Pathological data, microsatellite instability, anatomic location, and overall survival data was analyzed...

  15. Diagnosis of Lynch Syndrome: Genetic Testing Identifies a Potentially Deadly Hereditary Disease

    Science.gov (United States)

    ... of Lynch Syndrome Follow us A Diagnosis of Lynch Syndrome Genetic testing identifies a potentially deadly hereditary disease ... helped Jack learn what was wrong. Jack had Lynch Syndrome—an inherited disorder. Lynch Syndrome increases the risk ...

  16. Recent discoveries in the molecular genetics of Lynch syndrome.

    Science.gov (United States)

    Boland, C Richard

    2016-07-01

    Lynch syndrome is the inherited predisposition to cancer caused by a germline mutation in a DNA mismatch repair gene. The consequent tumors have a characteristic microsatellite instability (MSI) phenotype. Genomic sequencing of Lynch syndrome-associated colorectal cancers (CRCs) has demonstrated that these tumors have a substantially greater number of mutations than non-MSI CRCs, and that the target mutations driving tumor behavior are also different from what occurs in sporadic tumors. There are multiple non-Lynch syndrome entities that can create clinical confusion with that disease, including the acquired methylation of MLH1, Lynch-like syndrome, and Familial CRC-Type X. Patients with Lynch syndrome-associated CRCs have a substantially better prognosis, and there is growing evidence that this is due to the generation of immunogenic frameshift peptides as a consequence of defective DNA mismatch repair, and an effective immune response to the tumor.

  17. Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.

    Science.gov (United States)

    Mills, Anne M; Longacre, Teri A

    2016-06-01

    Lynch syndrome is responsible for approximately 5% of endometrial cancers and 1% of ovarian cancers. The molecular basis for Lynch syndrome is a heritable functional deficiency in the DNA mismatch repair system, typically due to a germline mutation. This review discusses the rationales and relative merits of current Lynch syndrome screening tests for endometrial and ovarian cancers and provides pathologists with an informed algorithmic approach to Lynch syndrome testing in gynecologic cancers. Pitfalls in test interpretation and strategies to resolve discordant test results are presented. The potential role for next-generation sequencing panels in future screening efforts is discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Mismatch repair genes in Lynch syndrome: a review

    Directory of Open Access Journals (Sweden)

    Felipe Cavalcanti Carneiro da Silva

    Full Text Available Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog 2 (MSH2; mutL homolog 1 (MLH1; mutS homolog 6 (MSH6; postmeiotic segregation increased 2 (PMS2; and postmeiotic segregation increased 1 (PMS1. It has been proposed that one additional mismatch repair gene, mutL homolog 3 (MLH3, also plays a role in Lynch syndrome predisposition, but the clinical significance of mutations in this gene is less clear. According to the InSiGHT database (International Society for Gastrointestinal Hereditary Tumors, approximately 500 different LS-associated mismatch repair gene mutations are known, primarily involving MLH1 (50% and MSH2 (40%, while others account for 10%. Much progress has been made in understanding the molecular basis of Lynch Syndrome. Molecular characterization will be the most accurate way of defining Lynch syndrome and will provide predictive information of greater accuracy regarding the risks of colon and extracolonic cancer and enable optimal cancer surveillance regimens.

  19. PMS2 involvement in patients suspected of Lynch syndrome.

    Science.gov (United States)

    Niessen, Renée C; Kleibeuker, Jan H; Westers, Helga; Jager, Paul O J; Rozeveld, Dennie; Bos, Krista K; Boersma-van Ek, Wytske; Hollema, Harry; Sijmons, Rolf H; Hofstra, Robert M W

    2009-04-01

    It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene, PMS2, play a far more important role in Lynch syndrome than initially thought. To explore this further, we determined the prevalence of pathogenic germline PMS2 mutations in a series of Lynch syndrome-suspected patients. Ninety-seven patients who had early-onset microsatellite instable colorectal or endometrial cancer, or multiple Lynch syndrome-associated tumors and/or were from an Amsterdam Criteria II-positive family were selected for this study. These patients carried no pathogenic germline mutation in MLH1, MSH2, or MSH6. When available, tumors were investigated for immunohistochemical staining (IHC) for PMS2. PMS2 was screened in all patients by exon-by-exon sequencing. We identified four patients with a pathogenic PMS2 mutation (4%) among the 97 patients we selected. IHC of PMS2 was informative in one of the mutation carriers, and in this case, the tumor showed loss of PMS2 expression. In conclusion, our study confirms the finding of previous studies that PMS2 is more frequently involved in Lynch syndrome than originally expected.

  20. Immunohistochemical Pitfalls: Common Mistakes in the Evaluation of Lynch Syndrome.

    Science.gov (United States)

    Markow, Michael; Chen, Wei; Frankel, Wendy L

    2017-12-01

    At least 15% of colorectal cancers diagnosed in the United States are deficient in mismatch repair mechanisms. Most of these are sporadic, but approximately 3% of colorectal cancers result from germline alterations in mismatch repair genes and represent Lynch syndrome. It is critical to identify patients with Lynch syndrome to institute appropriate screening and surveillance for patients and their families. Exclusion of Lynch syndrome in sporadic cases is equally important because it reduces anxiety for patients and prevents excessive spending on unnecessary surveillance. Immunohistochemistry is one of the most widely used screening tools for identifying patients with Lynch syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. [A Case of Ascending Colon Cancer with Lynch Syndrome Who Underwent XELOX Adjuvant Chemotherapy].

    Science.gov (United States)

    Takase, Koki; Murata, Kohei; Kagawa, Yoshinori; Nose, Yohei; Kawai, Kenji; Sakamoto, Takuya; Naito, Atsushi; Murakami, Kohei; Katsura, Yoshiteru; Omura, Yoshiaki; Takeno, Atsushi; Nakatsuka, Shinichi; Takeda, Yutaka; Kato, Takeshi; Tamura, Shigeyuki

    2018-01-01

    Lynch syndrome is an inherited syndrome with the development of the colorectal and various other cancers. Lynch syndrome is caused by mutations in the mismatch repair genes. A 33 year-old male underwent XELOX adjuvant chemotherapy for ascending colon cancer with Lynch syndrome. Although efficacy of 5-FU is not demonstrated in Lynch syndrome, MOSAIC trial had suggested a benefit from FOLFOX compared with 5-FU in patients who have colorectal cancer with Lynch syndrome. Oxaliplatin-based adjuvant chemotherapy can be a therapeutic option for colorectal cancer in lynch syndrome patients.

  2. Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease.

    Science.gov (United States)

    Derikx, Lauranne A A P; Smits, Lisa J T; van Vliet, Shannon; Dekker, Evelien; Aalfs, Cora M; van Kouwen, Mariëtte C A; Nagengast, Fokko M; Nagtegaal, Iris D; Hoogerbrugge, Nicoline; Hoentjen, Frank

    2017-03-01

    Lynch syndrome and inflammatory bowel diseases (IBD) are associated with an increased risk of colorectal cancer (CRC). However, it is not clear whether the risk of CRC is even higher for patients with a combination of Lynch syndrome and IBD. We investigated the risk for CRC in this subgroup by establishing a Lynch syndrome cohort from the Radboud University Medical Center (Nijmegen, The Netherlands) and the Academic Medical Center (Amsterdam, The Netherlands). Patients with heterozygous germline mutations in MLH1, MSH2 (and EPCAM deletion-mediated MSH2 methylation), MSH6, or PMS2 who were tested and/or treated from 1998 through 2014 were included. Patients who developed IBD were identified by linkage of this cohort to the Dutch nationwide Pathology Registry (PALGA). Subsequently, we compared the risk of CRC between Lynch syndrome patients with IBD and without IBD. Of 1046 patients with Lynch syndrome, 15 developed IBD (1.4%). Patients with Lynch syndrome and IBD were significantly younger (median age, 38.0 y) than patients with Lynch syndrome without IBD (median age, 52.0 y; P = .001). Nevertheless, a similar proportion of patients in each group developed CRC: 4 of the 15 patients (26.7%) with Lynch syndrome and IBD compared with 311 of the 1031 patients (30.2%) with Lynch syndrome without IBD. Patients with Lynch syndrome and IBD developed CRC at a younger age (median age, 36.0 y) than patients with Lynch syndrome without IBD (median age, 46.0 y; P = .045). However, the cumulative incidence of CRC was similar between groups (P = .121). All patients with Lynch syndrome and IBD who developed CRC had ulcerative colitis, producing a higher cumulative incidence of CRC for this IBD subgroup (P Lynch syndrome and IBD develop CRC risk at a younger age than patients without IBD; patients with ulcerative colitis are at especially high risk. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  3. Origin of the yellow brine and the black brine in Sichuan Basin

    International Nuclear Information System (INIS)

    Wang Dongsheng

    1988-01-01

    The spring water, geothermal water and Cretaceous brine in the outer zone of the Sichuan Basin has the Craig relationship, and they are cycling waters. The brine in the inner zone is mainly metasedimentary water. A basic feature of them is poor in 2 H, but rich in 18 O. The δD-values of the yellow brine in Jurassic and Upper Triassic aquifer of continental facies varies from -62.25 to -22.4, and the δ 18 O-values are -6.72 - +6.02. The δD-values of the black brine in marine aquifer (T 2 ,T 1 ,P,C,O and so on) varies from -49 to -25.1, and the 18 O values are +3.89 - +6.14. The δD of yellow brine is similar to that of meteoric water, and the δD of the black brine is around that of crystallization water expelled from gypsum by anhydritization. Increases of salinity in Jurassic yellow brine result primarily from the evapotranspiration process. The salinity in Upper Triassic yellow brine in Aa sub-area originated from underlying rock salt which was leached by paleometeoric water. Triassic black brine derived from the mixing of the crystallization water leached from rock salt with the residual sea water after salt crystallization. In Zhigong, the composition of yellow brine has mainly been changed by the mixing of the yellow brine with the black brine. (author). 2 refs, 2 figs, 2 tabs

  4. Role for Genetic Anticipation in Lynch Syndrome

    DEFF Research Database (Denmark)

    Nilbert, Mef; Timshel, Susanne; Bernstein, Inge

    2009-01-01

    PURPOSE: Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in hereditary cancer is unclear. We assessed anticipation in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), in which DNA...... mismatch repair (MMR) defects cause early and accelerated tumor development with a broad tumor spectrum. PATIENTS AND METHODS: In the population-based Danish HNPCC registry, 407 MMR gene mutation carriers who had developed cancer associated with Lynch syndrome, were identified. These individuals formed 290....... The effect remained when cancers diagnosed at surveillance were excluded, applied to maternal as well as paternal inheritance, and was independent of the MMR gene mutated. CONCLUSION: The effect from anticipation demonstrated in this large, population-based Lynch syndrome cohort underscores the need...

  5. Mutation spectrum in South American Lynch syndrome families

    DEFF Research Database (Denmark)

    Dominguez-Valentin, Mev; Nilbert, Mef; Wernhoff, Patrik

    2013-01-01

    Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system.......Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system....

  6. Management of extracolonic tumours in patients with Lynch syndrome

    NARCIS (Netherlands)

    Koornstra, Jan J; Mourits, Marian Je; Sijmons, Rolf H; Leliveld-Kors, Anna; Hollema, Harry; Kleibeuker, Jan H

    Hereditary nonpolyposis colorectal cancer, or Lynch syndrome, is responsible for 2-3% of all colorectal cancers. Lynch syndrome is also associated with a high risk of extracolonic cancers, including endometrial, stomach, small bowel, pancreas, biliary tract, ovary, urinary tract, brain, and skin

  7. Mismatch repair deficiency commonly precedes adenoma formation in Lynch Syndrome-Associated colorectal tumorigenesis.

    Science.gov (United States)

    Sekine, Shigeki; Mori, Taisuke; Ogawa, Reiko; Tanaka, Masahiro; Yoshida, Hiroshi; Taniguchi, Hirokazu; Nakajima, Takeshi; Sugano, Kokichi; Yoshida, Teruhiko; Kato, Mamoru; Furukawa, Eisaku; Ochiai, Atsushi; Hiraoka, Nobuyoshi

    2017-08-01

    Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins. Sequencing analyses identified APC or CTNNB1 mutations in the majority of sporadic adenomas (58/84, 69%) and MMR-proficient Lynch syndrome-associated adenomas (13/18, 72%). However, MMR-deficient Lynch syndrome-associated adenomas had less APC or CTNNB1 mutations (25/68, 37%) and frequent frameshift RNF43 mutations involving mononucleotide repeats (45/68, 66%). Furthermore, frameshift mutations affecting repeat sequences constituted 14 of 26 APC mutations (54%) in MMR-deficient adenomas whereas these frameshift mutations were rare in MMR-proficient adenomas in patients with Lynch syndrome (1/12, 8%) and in sporadic adenomas (3/52, 6%). Lynch syndrome-associated adenocarcinomas exhibited mutation profiles similar to those of MMR-deficient adenomas. Considering that WNT pathway activation sufficiently drives colorectal adenoma formation, the distinct mutation profiles of WNT pathway genes in Lynch syndrome-associated adenomas suggest that MMR deficiency commonly precedes adenoma formation.

  8. Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?

    Science.gov (United States)

    Song, Taejong; Kim, Min Kyu; Lee, Yoo-Young; Choi, Chel Hun; Kim, Tae-Joong; Lee, Jeong-Won; Bae, Duk-Soo; Kim, Byoung-Gie

    2016-04-01

    The aim of this study was to determine the clinical characteristics of women with double primary cancers of the colorectum and endometrium and assess the probability of Lynch syndrome. We identified 15 women with paraffin-embedded blocks available who were diagnosed, treated and followed for double primary colorectal and endometrial cancers at in a single institution between 1994 and 2014. If there was a family history that met the revised Amsterdam criteria for Lynch syndrome, the woman was considered to have 'clinically defined Lynch syndrome'. If immunohistochemical (IHC) loss of expression of mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) or high microsatellite instability (MSI) was demonstrated in molecular testing, the case was considered 'suspected Lynch syndrome'. The incidence of clinically defined Lynch syndrome according to the revised Amsterdam criteria was 66% (8 of 15). All 8 of the women clinically diagnosed with Lynch syndrome had either abnormal IHC loss or MSI-high, indicating a suspected Lynch syndrome. Furthermore, 27% (4 of 15) experienced second primary colorectal cancer or other Lynch syndrome-related cancers. Overall, 66% (10 of 15) met the criteria for clinically defined Lynch syndrome or suspected Lynch syndrome. Based on our findings, a large percentage (66%) of women with double primary cancers of the colorectum and endometrium are likely to be diagnosed with Lynch syndrome. Copyright © 2015. Published by Elsevier Ireland Ltd.

  9. Lynch syndrome: still not a familiar picture

    Directory of Open Access Journals (Sweden)

    Hes Frederik J

    2008-02-01

    Full Text Available Abstract Background Germ line mutations in mismatch repair genes underlie Lynch syndrome and predispose carriers for colorectal carcinoma and malignancies in many other organ systems. Case presentation A large Lynch syndrome family with 15 affected family members and involvement in 7 organs is reported. It illustrates a lack of awareness and knowledge about this hereditary tumor syndrome among doctors as well as patients. None of the described family members underwent presymptomatic screening on the basis of the family history. Conclusion Hereditary features, like young age at diagnosis, multiple tumors in multiple organs and a positive family history, should lead to timely referral of suspected cases for genetic counseling and diagnostics. For Lynch syndrome, these features can be found in the Amsterdam and Bethesda criteria. Subsequently, early identification of mutation carriers might have diminished, at least in part, the high and early morbidity and mortality observed in this family.

  10. PMS2 Involvement in Patients Suspected of Lynch Syndrome

    NARCIS (Netherlands)

    Niessen, Renee C.; Kleibeuker, Jan H.; Westers, Helga; Jager, Paul O. J.; Rozeveld, Dennie; Bos, Krista K.; Boersma-van Ek, Wytske; Hollema, Harry; Sijmons, Rolf H.; Hofstra, Robert M. W.

    It is well-established that germline mutations in the mismatch repair genes MLH1, MSH2, and MSH6 cause Lynch syndrome. However, mutations in these three genes do not account for all Lynch syndrome (suspected) families. Recently, it was shown that germline mutations in another mismatch repair gene,

  11. DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome.

    Science.gov (United States)

    Pai, Rish K; Dudley, Beth; Karloski, Eve; Brand, Randall E; O'Callaghan, Neil; Rosty, Christophe; Buchanan, Daniel D; Jenkins, Mark A; Thibodeau, Stephen N; French, Amy J; Lindor, Noralane M; Pai, Reetesh K

    2018-06-08

    Lynch syndrome is the most common form of hereditary colorectal carcinoma. However, establishing the diagnosis of Lynch syndrome is challenging, and ancillary studies that distinguish between sporadic DNA mismatch repair (MMR) protein deficiency and Lynch syndrome are needed, particularly when germline mutation studies are inconclusive. The aim of this study was to determine if MMR protein-deficient non-neoplastic intestinal crypts can help distinguish between patients with and without Lynch syndrome. We evaluated the expression of MMR proteins in non-neoplastic intestinal mucosa obtained from colorectal surgical resection specimens from patients with Lynch syndrome-associated colorectal carcinoma (n = 52) and patients with colorectal carcinoma without evidence of Lynch syndrome (n = 70), including sporadic MMR protein-deficient colorectal carcinoma (n = 30), MMR protein proficient colorectal carcinoma (n = 30), and "Lynch-like" syndrome (n = 10). MMR protein-deficient non-neoplastic colonic crypts were identified in 19 of 122 (16%) patients. MMR protein-deficient colonic crypts were identified in 18 of 52 (35%) patients with Lynch syndrome compared to only 1 of 70 (1%) patients without Lynch syndrome (p Lynch-like" syndrome and harbored two MSH2-deficient non-neoplastic colonic crypts. MMR protein-deficient non-neoplastic colonic crypts were not identified in patients with sporadic MMR protein-deficient or MMR protein proficient colorectal carcinoma. Our findings suggest that MMR protein-deficient colonic crypts are a novel indicator of Lynch syndrome, and evaluation for MMR protein-deficient crypts may be a helpful addition to Lynch syndrome diagnostics.

  12. Forward Osmosis Brine Drying

    Science.gov (United States)

    Flynn, Michael; Shaw, Hali; Hyde, Deirdre; Beeler, David; Parodi, Jurek

    2015-01-01

    The Forward Osmosis Brine Drying (FOBD) system is based on a technique called forward osmosis (FO). FO is a membrane-based process where the osmotic potential between brine and a salt solution is equalized by the movement of water from the brine to the salt solution. The FOBD system is composed of two main elements, the FO bag and the salt regeneration system. This paper discusses the results of testing of the FO bag to determine the maximum water recovery ratio that can be attained using this technology. Testing demonstrated that the FO bag is capable of achieving a maximum brine water recovery ratio of the brine of 95%. The equivalent system mass was calculated to be 95 kg for a feed similar to the concentrated brine generated on the International Space Station and 86 kg for an Exploration brine. The results have indicated that the FOBD can process all the brine for a one year mission for between 11% to 10% mass required to bring the water needed to make up for water lost in the brine if not recycled. The FOBD saves 685 kg and when treating the International Space Station brine and it saves 829 kg when treating the Exploration brine. It was also demonstrated that saturated salt solutions achieve a higher water recovery ratios than solids salts do and that lithium chloride achieved a higher water recovery ratio than sodium chloride.

  13. TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.

    Science.gov (United States)

    Gray, Phillip N; Tsai, Pei; Chen, Daniel; Wu, Sitao; Hoo, Jayne; Mu, Wenbo; Li, Bing; Vuong, Huy; Lu, Hsiao-Mei; Batth, Navanjot; Willett, Sara; Uyeda, Lisa; Shah, Swati; Gau, Chia-Ling; Umali, Monalyn; Espenschied, Carin; Janicek, Mike; Brown, Sandra; Margileth, David; Dobrea, Lavinia; Wagman, Lawrence; Rana, Huma; Hall, Michael J; Ross, Theodora; Terdiman, Jonathan; Cullinane, Carey; Ries, Savita; Totten, Ellen; Elliott, Aaron M

    2018-04-17

    The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext-Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer. Moreover, the panel provides microsatellite instability status and detects loss of heterozygosity in the five Lynch genes; MSH2 , MSH6 , MLH1 , PMS2 and EPCAM . Clinical cases are described that highlight the assays ability to differentiate between somatic and germline mutations, precisely classify variants and resolve discordant cases.

  14. Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report.

    Science.gov (United States)

    Nakamura, Kohei; Nakayama, Kentaro; Minamoto, Toshiko; Ishibashi, Tomoka; Ohnishi, Kaori; Yamashita, Hitomi; Ono, Ruriko; Sasamori, Hiroki; Razia, Sultana; Hossain, Mohammad Mahmud; Kamrunnahar, Shanta; Ishikawa, Masako; Ishikawa, Noriyoshi; Kyo, Satoru

    2018-03-25

    Lynch syndrome, a hereditary cancer syndrome, occurs because of germline mutations in at least one of four DNA mismatch repair genes (MutL Homolog 1 ( MLH1 ), MutS Homolog 2 ( MSH2 ), MutS Homolog 6 ( MSH6 ), and PMS1 Homolog 2 ( PMS2 )). The disorder is associated with colorectal, endometrial, and other epithelial malignancies, but not cervical cancer. We report a woman with Lynch syndrome with synchronous cervical cancer. This is the first report of Lynch syndrome-related clear cell carcinoma of the cervix, which indicates the possibility of an association between cervical cancer and Lynch syndrome. Suitable genetic tests are required to determine whether common genetics can account for synchronous or subsequent malignancies in Lynch syndrome patients and their families. Such knowledge will also enhance our understanding of the genetic mechanisms governing the development of apparently unrelated cancers.

  15. Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome

    DEFF Research Database (Denmark)

    Jönsson, Jenny-Maria; Bartuma, Katarina; Dominguez-Valentin, Mev

    2014-01-01

    Ovarian cancer linked to Lynch syndrome represents a rare subset that typically presents at young age as early-stage tumors with an overrepresentation of endometrioid and clear cell histologies. We investigated the molecular profiles of Lynch syndrome-associated and sporadic ovarian cancer...... with the aim to identify key discriminators and central tumorigenic mechanisms in hereditary ovarian cancer. Global gene expression profiling using whole-genome c-DNA-mediated Annealing, Selection, extension, and Ligation was applied to 48 histopathologically matched Lynch syndrome-associated and sporadic...... ovarian cancers. Lynch syndrome-associated and sporadic ovarian cancers differed by 349 significantly deregulated genes, including PTPRH, BIRC3, SHH and TNFRSF6B. The genes involved were predominantly linked to cell growth, proliferation, and cell-to-cell signaling and interaction. When stratified...

  16. Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report.

    Science.gov (United States)

    Lu, Yuxin; Milchgrub, Sara; Khatri, Gaurav; Gopal, Purva

    2017-05-01

    Lynch syndrome is a hereditary disease with germline mutation in a DNA mismatch repair gene, most often presenting with colorectal and/or endometrial carcinomas; however, the spectrum of Lynch syndrome-associated tumors is expanding. In this article, we report a case of a primary peritoneal epithelioid mesothelioma that developed in a Lynch syndrome patient 10 months after diagnosis of uterine endometrioid adenocarcinoma. To our knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma.

  17. Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report

    Science.gov (United States)

    Nakamura, Kohei; Nakayama, Kentaro; Minamoto, Toshiko; Ishibashi, Tomoka; Ohnishi, Kaori; Yamashita, Hitomi; Ono, Ruriko; Sasamori, Hiroki; Razia, Sultana; Hossain, Mohammad Mahmud; Kamrunnahar, Shanta; Ishikawa, Masako; Ishikawa, Noriyoshi; Kyo, Satoru

    2018-01-01

    Lynch syndrome, a hereditary cancer syndrome, occurs because of germline mutations in at least one of four DNA mismatch repair genes (MutL Homolog 1 (MLH1), MutS Homolog 2 (MSH2), MutS Homolog 6 (MSH6), and PMS1 Homolog 2 (PMS2)). The disorder is associated with colorectal, endometrial, and other epithelial malignancies, but not cervical cancer. We report a woman with Lynch syndrome with synchronous cervical cancer. This is the first report of Lynch syndrome-related clear cell carcinoma of the cervix, which indicates the possibility of an association between cervical cancer and Lynch syndrome. Suitable genetic tests are required to determine whether common genetics can account for synchronous or subsequent malignancies in Lynch syndrome patients and their families. Such knowledge will also enhance our understanding of the genetic mechanisms governing the development of apparently unrelated cancers. PMID:29587389

  18. Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report

    Directory of Open Access Journals (Sweden)

    Kohei Nakamura

    2018-03-01

    Full Text Available Lynch syndrome, a hereditary cancer syndrome, occurs because of germline mutations in at least one of four DNA mismatch repair genes (MutL Homolog 1 (MLH1, MutS Homolog 2 (MSH2, MutS Homolog 6 (MSH6, and PMS1 Homolog 2 (PMS2. The disorder is associated with colorectal, endometrial, and other epithelial malignancies, but not cervical cancer. We report a woman with Lynch syndrome with synchronous cervical cancer. This is the first report of Lynch syndrome-related clear cell carcinoma of the cervix, which indicates the possibility of an association between cervical cancer and Lynch syndrome. Suitable genetic tests are required to determine whether common genetics can account for synchronous or subsequent malignancies in Lynch syndrome patients and their families. Such knowledge will also enhance our understanding of the genetic mechanisms governing the development of apparently unrelated cancers.

  19. Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions.

    Science.gov (United States)

    Kravochuck, Sara E; Church, James M

    2017-12-01

    Hereditary non-polyposis colorectal cancer (HNPCC) is defined by family history, and Lynch syndrome (LS) is defined genetically. However, universal tumour testing is now increasingly used to screen for patients with defective mismatch repair. This mixing of the results of family history, tumour testing and germline testing produces multiple permutations and combinations that can foster confusion. We wanted to clarify hereditary colorectal cancer using the three dimensions of classification: family history, tumour testing and germline testing. Family history (Amsterdam I or II criteria versus not Amsterdam criteria) was used to define patients and families with HNPCC. Tumour testing and germline testing were then performed to sub-classify patients and families. The permutations of these classifications are applied to our registry. There were 234 HNPCC families: 129 had LS of which 55 were three-dimensional Lynch (family history, tumour testing and germline testing), 66 were two-dimensional Lynch and eight were one-dimensional Lynch. A total of 10 families had tumour Lynch (tumours with microsatellite instability or loss of expression of a mismatch repair protein but an Amsterdam-negative family and negative germline testing), five were Lynch like (Amsterdam-positive family, tumours with microsatellite instability or loss of expression of a mismatch repair protein on immunohistochemistry but negative germline testing), 26 were familial colorectal cancer type X and 95 were HNPCC. Hereditary colorectal cancer can be confusing. Sorting families in three dimensions can clarify the confusion and may direct further testing and, ultimately, surveillance. © 2016 Royal Australasian College of Surgeons.

  20. The Lynch syndrome: a management dilemma.

    Science.gov (United States)

    Palumbo, Piergaspare; Amatucci, Chiara; Perotti, Bruno; Dezzi, Claudia; Girolami, Marco; Illuminati, Giulio; Angelici, Alberto M

    2013-05-01

    The case of a familial Lynch syndrome is reported. The criteria for early diagnosis, management and surveillance are briefly reviewed. A germline mutation of genes responsible for mismatch repair is at the basis of the Lynch syndrome. Carriers are predisposed to colorectal cancer and other tumors. Two members of the presently reported family developed colorectal cancer, whereas two others developed other neoplasms. The syndrome was confirmed in members of the same family with appropriate genetic workup. Clinical examination and endoscopy were consequently scheduled once-a-year. Given the high risk of neoplastic disease, such yearly controls can be proposed as the standard follow-up of this condition.

  1. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

    OpenAIRE

    Moller, Pal; Seppala, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind

    2017-01-01

    Objective Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.\\ud \\ud Design We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1, MSH2, MSH6 or PMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle rela...

  2. Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome.

    Science.gov (United States)

    Ahn, Do Hee; Rho, Jung Hee; Tchah, Hann; Jeon, In-Sang

    2016-01-01

    Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.

  3. Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome

    NARCIS (Netherlands)

    Kuiper, Roland P.; Vissers, Lisenka E. L. M.; Venkatachalam, Ramprasath; Bodmer, Danielle; Hoenselaar, Eveline; Goossens, Monique; Haufe, Aline; Kamping, Eveline; Niessen, Renee C.; Hogervorst, Frans B. L.; Gille, Johan J. P.; Redeker, Bert; Tops, Carli M. J.; van Gijn, Marielle E.; van den Ouweland, Ans M. W.; Rahner, Nils; Steinke, Verena; Kahl, Philip; Holinski-Feder, Elke; Morak, Monika; Kloor, Matthias; Stemmler, Susanne; Betz, Beate; Hutter, Pierre; Bunyan, David J.; Syngal, Sapna; Culver, Julie O.; Graham, Tracy; Chan, Tsun L.; Nagtegaal, Iris D.; van Krieken, J. Han J. M.; Schackert, Hans K.; Hoogerbrugge, Nicoline; van Kessel, Ad Geurts; Ligtenberg, Marjolijn J. L.

    Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the neighboring DNA mismatch repair gene MSH2 in tissues expressing EPCAM. Here we screened a cohort of unexplained Lynch-like

  4. Soil washing for brine removal

    International Nuclear Information System (INIS)

    Ayyachamy, J.S.; Atalay, A.; Zaman, M.

    1992-01-01

    During the exploration for oil and thereafter, brine transfer lines get ruptured releasing the brine which contaminates the surrounding soil. The salinity level in brine is very high, sometimes approaching or exceeding that of sea water. Soils contaminated with brine are unproductive and unsuitable for plant growth. Several investigators have documented the pollution of surface water and groundwater due to brine disposal from oil and needed to clean up such sites. The objective of this study is to develop a soil washing technique that can be used to remove brine sites were collected and used in the study. This paper reports on results which indicate that soil washing using various surface active agents is effective in removing the brine

  5. Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients.

    Science.gov (United States)

    Zumstein, Valentin; Vinzens, Fabrizio; Zettl, Andreas; Heinimann, Karl; Koeberle, Dieter; von Flüe, Markus; Bolli, Martin

    2016-01-01

    Germline mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause autosomal dominantly inherited Lynch syndrome. Lynch syndrome patients and their families benefit from life-saving intensive cancer surveillance. Approximately one in 30 colorectal cancers arises in the setting of Lynch syndrome. The aim of this study was to assess the detection rate of Lynch syndrome at our institution after introduction of systematic immunohistochemical screening for MMR deficiency in colorectal cancers from 2011 to 2015. Following the recommendations by the Evaluation of Genomic Applications in Practice and Prevention working group all colorectal cancers were immunohistochemically stained for the presence of MMR proteins MLH1, PMS2, MSH2 and MSH6, independent of clinical criteria. In the case of loss of MLH1, the somatic BRAF mutation V600E was assessed with molecular testing and/or immunohistochemistry. Clinical follow-up of potential Lynch syndrome carriers (patients with tumours showing loss of MLH1 expression with absence of BRAFV600E, loss of PMS2, MSH2 or MSH6) was evaluated. Of all patients (n = 486), loss of MMR protein expression was found in 73 (15.0%) tumours. Twenty-eight (6.0%) were classified as potential Lynch syndrome carriers. Of the genetically tested potential Lynch syndrome carriers (10 out of 28 patients), 40% were first diagnosed with Lynch syndrome. Implementation of systematic immunohistochemistry screening for Lynch syndrome showed that 6% of colorectal cancers were potentially Lynch-syndrome related. Tumour board protocols should systematically contain information on MMR status of all colorectal cancers and, in MMR deficient cases, include clear recommendations for genetic counselling for all potential Lynch syndrome patients.

  6. Genetics Home Reference: Lynch syndrome

    Science.gov (United States)

    ... Genetic Changes Variations in the MLH1 , MSH2 , MSH6 , PMS2 , or EPCAM gene increase the risk of developing Lynch syndrome . The MLH1 , MSH2 , MSH6 , and PMS2 genes are involved in the repair of errors ...

  7. Lynching Luther

    DEFF Research Database (Denmark)

    Backe, Hans-Joachim

    2016-01-01

    , cerebral detective – two character-types traditionally rather juxtaposed as irreconcilable opposites. In this fashion, the overall story arc meshes together elements from Thomas Harris-style serial killer fiction and intuitive detection in the tradition of George Simenon’s Maigret. Similarly......, the individual episodes oscillate between carefully plotted psychology and lurid plot-holes. In other words: taken at face value, Luther is as interesting as it is messy. This paper proposes a reading of Luther that reconciles its many inconsistencies by treating it as if it was a David Lynch movie. If one...

  8. Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome.

    Science.gov (United States)

    Harper, Holly L; McKenney, Jesse K; Heald, Brandie; Stephenson, Andrew; Campbell, Steven C; Plesec, Thomas; Magi-Galluzzi, Cristina

    2017-01-01

    Increased risk for upper tract urothelial carcinoma is described in patients with Lynch syndrome, caused by germline mutations in mismatch repair genes. We aimed to identify the frequency of mismatch repair protein loss in upper tract urothelial carcinoma and its potential for identifying an association with Lynch syndrome. We queried our database to identify upper tract urothelial carcinomas. Patients were cross-referenced for history of colorectal carcinoma or other common Lynch syndrome-associated neoplasms to enrich for potential Lynch syndrome cases. Tumor histopathologic characteristics were reviewed and each case was analyzed for loss of mismatch repair proteins, MLH1, MSH2, MSH6, and PMS2, by immunohistochemistry. Of 444 patients with upper tract urothelial carcinoma, a subset of 215 (encompassing 30 with upper tract urothelial carcinoma and another common Lynch syndrome-associated neoplasm) was analyzed for loss of mismatch repair protein expression. Of 30 patients with Lynch syndrome-associated neoplasms, six had documented Lynch syndrome, including two with Muir-Torre syndrome. Mismatch repair protein loss was identified in 7% of total upper tract urothelial carcinomas and 30% of patients with Lynch syndrome-associated neoplasms (including all patients with Lynch syndrome/Muir-Torre syndrome). Of patients without history of Lynch syndrome-associated neoplasms, 5 of 184 (2.7%) had loss of mismatch repair protein expression. Twelve cases with mismatch repair protein loss demonstrated loss of MSH2 and MSH6, and 2 had isolated loss of MSH6. MLH1 and PMS2 expression were consistently retained. Although increased intratumoral lymphocytes, inverted growth, pushing tumor-stromal interface, and lack of nuclear pleomorphism were more commonly seen in cases with mismatch repair protein loss, only intratumoral lymphocytes and presence of pushing borders were statistically significant. MLH1 and PMS2 testing appear to have little utility in upper tract urothelial

  9. Universal Point of Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma.

    Science.gov (United States)

    Metcalfe, Michael J; Petros, Firas G; Rao, Priya; Mork, Maureen E; Xiao, Lianchun; Broaddus, Russell R; Matin, Surena F

    2018-01-01

    Patients with Lynch syndrome are at risk for upper tract urothelial carcinoma. We sought to identify the incidence and most reliable means of point of care screening for Lynch syndrome in patients with upper tract urothelial carcinoma. A total of 115 consecutive patients with upper tract urothelial carcinoma without a history of Lynch syndrome were universally screened during followup from January 2013 through July 2016. We evaluated patient and family history using AMS (Amsterdam criteria) I and II, and tumor immunohistochemistry for mismatch repair proteins and microsatellite instability. Patients who were positive for AMS I/II, microsatellite instability or immunohistochemistry were classified as potentially having Lynch syndrome and referred for clinical genetic analysis and counseling. Patients with known Lynch syndrome served as positive controls. Of the 115 patients 16 (13.9%) screened positive for potential Lynch syndrome. Of these patients 7.0% met AMS II criteria, 11.3% had loss of at least 1 mismatch repair protein and 6.0% had high microsatellite instability. All 16 patients were referred for germline testing, 9 completed genetic analysis and counseling, and 6 were confirmed to have Lynch syndrome. All 7 patients with upper tract urothelial carcinoma who had a known history of Lynch syndrome were positive for AMS II criteria and at least a single mismatch repair protein loss while 5 of 6 had high microsatellite instability. We identified 13.9% of upper tract urothelial carcinoma cases as potential Lynch syndrome and 5.2% as confirmed Lynch syndrome at the point of care. These findings have important implications for universal screening of upper tract urothelial carcinoma, representing one of the highest rates of undiagnosed genetic disease in a urological cancer. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  10. Small-bowel cancer in Lynch syndrome : is it time for surveillance?

    NARCIS (Netherlands)

    Koornstra, Jan J.; Kleibeuker, Jan H.; Vasen, Hans F. A.

    Small-bowel cancer is part of the tumour spectrum of Lynch syndrome. Lynch syndrome, or hereditary non-polyposis colorectal cancer, is caused by germline mutations in one of the mismatch repair genes. Mutation carriers have an estimated lifetime risk for the development of small-bowel cancer of

  11. Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

    DEFF Research Database (Denmark)

    Lagerstedt-Robinson, Kristina; Rohlin, Anna; Aravidis, Christos

    2016-01-01

    Lynch syndrome caused by constitutional mismatch‑repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2...... Lynch syndrome families. These mutations affected MLH1 in 40%, MSH2 in 36%, MSH6 in 18% and PMS2 in 6% of the families. A large variety of mutations were identified with splice site mutations being the most common mutation type in MLH1 and frameshift mutations predominating in MSH2 and MSH6. Large...... deletions of one or several exons accounted for 21% of the mutations in MLH1 and MSH2 and 22% in PMS2, but were rare (4%) in MSH6. In 66% of the Lynch syndrome families the variants identified were private and the effect from founder mutations was limited and predominantly related to a Finnish founder...

  12. 100 years lynch syndrome

    DEFF Research Database (Denmark)

    Bleiker, Eveline M A; Esplen, Mary Jane; Meiser, Bettina

    2013-01-01

    In the care of patients with Lynch Syndrome (LS), a range of psychosocial issues are encountered, which significantly affect patient outcomes. A brief historical background of 'psycho-onco-genetics' (the domain where psychology, oncology and genetics meet) in relation to LS is presented, followed...

  13. Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients

    Directory of Open Access Journals (Sweden)

    Kristen M. Drescher

    2010-01-01

    Full Text Available High levels of microsatellite instability (MSI-high are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  14. Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients.

    Science.gov (United States)

    Drescher, Kristen M; Sharma, Poonam; Lynch, Henry T

    2010-01-01

    High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  15. Merrill Lynch kavandab äridelegatsiooni visiiti Eestisse

    Index Scriptorium Estoniae

    2000-01-01

    Investeerimispanga Merrill Lynch eestvedamisel kavandatakse mais ärimeeste visiiti Eestisse, ütles Jüri Mõis, kes viibis New Yorgis toimunud Maailmapanga seminaril "Omavalitsused rahvusvahelistel kapitaliturgudel"

  16. Colorectal choriocarcinoma in a patient with probable Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Viktor Hendrik Koelzer

    2016-11-01

    Full Text Available Background: Personalized therapy of colorectal cancer (CRC is influenced by morphological, molecular and host-related factors. Here we report the comprehensive clinicopathological and molecular analysis of a pure extra-gestational colorectal choriocarcinoma in a patient with probable Lynch syndrome.Case presentation: A 61 year old female with history of gastric cancer at age 36 presented with a transmurally invasive tumor of the right hemicolon and liver metastasis. A right hemicolectomy was performed. Histopathological analysis showed a mixed trophoblastic and syncytiotrophoblastic differentiation, consistent with choriocarcinoma. Disease progression was rapid under oxaliplatin, capecitabine, irinotecan (XELOXIRI and bevacizumab. Molecular phenotyping identified loss of the mismatch-repair (MMR protein PMS2, microsatellite instability, a lack of MLH1 promoter methylation and lack of of BRAF mutation suggestive of Lynch-Syndrome. Targeted next generation sequencing revealed an Ataxia Telangiectasia Mutated (ATM p.P604S missense mutation. A bleomycin, etoposide and cisplatin (BEP treatment protocol targeting germ-cell neoplasia lead to disease remission and prolonged survival of 34 months.Conclusions: Comprehensive immunohistochemical and genetic testing is essential to identify uncommon cancers possibly related to Lynch syndrome. For rare tumors, personalized therapeutic approaches should take both molecular and morphological information into account.Key words: Colorectal cancer, choriocarcinoma, histopathology, prognostic factors, Lynch syndrome, microsatellite instability, ataxia telangiectasia mutated, molecular pathology, next generation sequencing, personalized medicine

  17. Evolution of hydrologic systems and brine geochemistry in a deforming salt medium: Data from WIPP brine seeps

    International Nuclear Information System (INIS)

    Deal, D.E.; Roggenthen, W.M.

    1991-01-01

    The Brine Sampling and Evaluation Program (BSEP) is a formalized continuation of studies that began in 1982 as part of the Site Validation Program. The program was established in 1985. The mission was to document and investigate the origins, hydraulic characteristics, extent, and composition of brine occurrences in the Permian Salado Formation and the seepage of that brine into the WIPP excavations. This document focuses on the cumulative data obtained from the BSEP. The overall activities of the BSEP described and quantified the brine. It includes documentation and study of brine inflow into boreholes in the facility. The BSEP investigated the occurrence and development of brine weeps, crusts, and brine geochemistry. The presence of salt-tolerant bacteria in the workings was recorded and their possible interactions with experiments and operations, was assessed. The formation properties associated with the occurrence of brine was characterized. The determination of formation properties included the water content of various geologic units, direct examination of these units in boreholes using a video camera system, and measurement of electrical properties relatable to the brine contents. Modeling examined the interaction of salt deformation near the workings and the flow of brine through the deforming rocks. 34 refs

  18. Thyroid cancer in a patient with Lynch syndrome - case report and literature review.

    Science.gov (United States)

    Fazekas-Lavu, Monika; Parker, Andrew; Spigelman, Allan D; Scott, Rodney J; Epstein, Richard J; Jensen, Michael; Samaras, Katherine

    2017-01-01

    Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1 , MSH2 , MSH6 , and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene) with a synchronous papillary thyroid cancer. Six years later, she developed metachronous breast cancer. Metastatic bone disease developed after 3 years, and the disease burden was due to both breast and thyroid diseases. Despite multiple interventions for both metastatic breast and thyroid diseases, the patient's metastatic burden progressed and she died of leptomeningeal metastatic disease. Two prior case reports suggested thyroid cancer may be an extraintestinal malignancy of the Lynch syndrome cancer group. Hence, this study examined the genetic relationship between the patient's known Lynch syndrome and her thyroid cancer. The thyroid cancer tissue showed normal expression of MSH2 , suggesting that the tumor was not due to the oncogenic mutation of Lynch syndrome, and molecular analysis confirmed BRAF V600E mutation. Although in this case the thyroid cancer was sporadic, it raises the importance of considering cancer genetics in familial cancer syndromes when other cancers do not fit the criteria of the syndrome. Careful documentation of other malignancies in patients with thyroid cancer and their families would assist in better understanding of any potential association. Appropriate genetic testing will clarify whether a common pathogenic mechanism links seemingly unrelated cancers.

  19. The Course of Law: State Intervention in Southern Lynch Mob Violence 1882–1930

    Directory of Open Access Journals (Sweden)

    Kinga Makovi

    2016-09-01

    Full Text Available Collective violence when framed by its perpetrators as "citizen" justice is inherently a challenge to state legitimacy. To properly account for such violence, it is necessary to consider an opportunity structure incorporating the actions of both vigilantes and agents of the state. The motivation and lethality of lynch mobs in the South cannot be understood without considering how the state reacted to the legitimacy challenges posed by lynching. We trace the shifting orientation of state agents to lynching attempts between the end of Reconstruction and the start of the Great Depression. Analyzing an inventory of more than 1,000 averted and completed lynching events in three Southern states, we model geographic and temporal patterns in the determinants of mob formation, state intervention, and intervention success. Opponents of lynching often pled with mobs to "let the law take its course." This article examines the course followed by the law itself, as state actors moved between encouraging, accommodating, and in many instances averting mob violence.

  20. HEREDITARY NON-POLYPOSIS COLORECTAL CANCER (LYNCH SYNDROME PADA WANITA UMUR 16 TAHUN

    Directory of Open Access Journals (Sweden)

    Asril Zahari

    2011-09-01

    Full Text Available AbstrakKanker kolorektal menduduki peringkat ketiga jenis kanker yang paling sering terjadi di dunia. Sekitar 3% kasus kanker kolorektal merupakan jenis hereditary non polyposis colorectal cancer (HNPCC/Lynch syndrome, yang sering muncul pada usia muda. Dilaporkan satu kasus di rumah sakit Dr. M. Djamil Padang, wanita berumur 16 tahun dengan keluhan nyeri perut kanan bawah. Didapatkan riwayat penyakit serupa pada kakek, bibi pasien dan enam anggota keluarga yang lain. Pada pemeriksaan fisik abdomen teraba massa dengan konsistensi keras dan terfiksir. Pada kolonoskopi dan biopsi ditemukan tumor jenis adenocarcinoma colon moderatly differentiated di fleksura hepatika dan polip di kolon sigmoid. Berdasarkan kriteria Amsterdam pasien didiagnosa Lynch syndrome. Pada Pasien dilakukan subtotal kolektomi, anastomose ileorectal dan kemoterapi ajuvan. Identifikasi genetik sedang dikerjakan untuk melihat adanya kelainan genetik pada pasien. Pasien melakukan skrining berkala untuk mencegah kanker HNPCC jenis yang lain.Kata kunci : Hereditary non polyposis colorectal cancer, Lynch syndrome, Microsatellite instability, skrining.AbstractCarcinoma colorectal is the third most common type of cancer that occurs in the world. About 2% -3% of cases of colorectal cancer is hereditary non-polyposis colorectal cancer (HNPCC/Lynch syndrome, which often appear at a young age. Amsterdam and Bethesda criteria have been used to identify patients with Lynch syndrome.one case was reported at the Dr. M. Djamil Padang hospital, a 16-year-old girl with right lower abdominal pain. Obtained a history of similar disease in grandparents, aunts and six other family members. On physical examination found palpable fixed abdominal mass with hard consistency in the lower right abdomen. At colonoscopy and biopsy found a moderatly differentiated adenocarcinoma colon type at the hepatic flexure and the sigmoid colon polyp. Based on the Amsterdam criteria, patients diagnosed with HNPCC/Lynch

  1. Brine Sampling and Evaluation Program

    International Nuclear Information System (INIS)

    Deal, D.E.; Case, J.B.; Deshler, R.M.; Drez, P.E.; Myers, J.; Tyburski, J.R.

    1987-12-01

    The Brine Sampling and Evaluation Program (BSEP) Phase II Report is an interim report which updates the data released in the BSEP Phase I Report. Direct measurements and observations of the brine that seeps into the WIPP repository excavations were continued through the period between August 1986 and July 1987. That data is included in Appendix A, which extends the observation period for some locations to approximately 900 days. Brine observations at 87 locations are presented in this report. Although WIPP underground workings are considered ''dry,'' small amounts of brine are present. Part of that brine migrates into the repository in response to pressure gradients at essentially isothermal conditions. The data presented in this report is a continuation of moisture content studies of the WIPP facility horizon that were initiated in 1982, as soon as underground drifts began to be excavated. Brine seepages are manifested by salt efflorescences, moist areas, and fluid accumulations in drillholes. 35 refs., 6 figs., 11 tabs

  2. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    DEFF Research Database (Denmark)

    Clendenning, Mark; Senter, Leigha; Hampel, Heather

    2008-01-01

    BACKGROUND: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (Lynch syndrome cases...... on immunohistochemical analysis. RESULTS: We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n=61). These individuals all display the rare allele (population...... and Swedish ancestry. We estimate that there are >10,000 carriers of this mutation in the United States alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected...

  3. Fertility and apparent genetic anticipation in Lynch syndrome.

    Science.gov (United States)

    Stupart, Douglas; Win, Aung Ko; Jenkins, Mark; Winship, Ingrid M; Goldberg, Paul; Ramesar, Rajkumar

    2014-09-01

    Genetic anticipation is the phenomenon in which age of onset of an inherited disorder decreases in successive generations. Inconsistent evidence suggests that this occurs in Lynch syndrome. A possible cause for apparent anticipation is fecundity bias, which occurs if the disease adversely affects fertility. The purpose of this study was to determine the effect of age of diagnosis of colorectal cancer (CRC) on lifetime fertility in Lynch syndrome, and whether this can falsely create the appearance of genetic anticipation. A computer model simulated age of diagnosis of CRC in hypothetical Lynch syndrome carriers and their offspring. The model assumed similar age distribution of CRC across generations (i.e. that there was no true anticipation). Age distribution of CRC diagnosis, and lifetime fertility rates (grouped by age of diagnosis of CRC) were determined from the Australasian Colorectal Cancer Family Registry (ACCFR). Apparent anticipation was calculated by comparing ages of diagnosis of CRC in affected parent-child pairs. A total of 1,088 patients with CRC were identified from the ACCFR. Total lifetime (cohort) fertility was related to age of diagnosis of CRC (correlation coefficient 0.13, P = 0.0001). In the simulation, apparent anticipation was 1.8 ± 0.54 years (P = 0.0044). Observed apparent anticipation in the ACCFR cohort was 4.8 ± 1.73 years (P = 0.0064). There was no difference in apparent anticipation between the simulate d and observed parent-child pairs (P = 0.89). The appearance of genetic anticipation in Lynch syndrome can be falsely created due to changes in fertility.

  4. The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

    Science.gov (United States)

    Cohen, Stephanie A; Leininger, Anna

    2014-01-01

    Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as much as 3% of all colon and endometrial cancers. The identification and management of individuals with Lynch syndrome have evolved over the past 20 years, yet the syndrome remains vastly underdiagnosed. It is important for clinicians to recognize individuals and families who are at risk in order to be able to manage them appropriately and reduce their morbidity and mortality from this condition. This review will touch on the history of Lynch syndrome, the current knowledge of genotype–phenotype correlations, the cancers associated with Lynch syndrome, and management of individuals who are gene carriers. PMID:25161364

  5. Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease

    NARCIS (Netherlands)

    Derikx, L.A.A.P.; Smits, L.J.T.; Lent-van Vliet, S. van; Dekker, E.; Aalfs, C.M.; Kouwen, M.C.A. van; Nagengast, F.M.; Nagtegaal, I.D.; Hoogerbrugge, N.; Hoentjen, F.

    2017-01-01

    Lynch syndrome and inflammatory bowel diseases (IBD) are associated with an increased risk of colorectal cancer (CRC). However, it is not clear whether the risk of CRC is even higher for patients with a combination of Lynch syndrome and IBD. We investigated the risk for CRC in this subgroup by

  6. Diagnosing lynch syndrome in absence of colorectal cancer.

    Science.gov (United States)

    Lynch, Henry T; Knezetic, Joseph; Lanspa, Stephen

    2012-11-01

    There are many ways in which a diagnosis of Lynch syndrome can be made, most prominent of which is family history, presence of cancer, high microsatellite instability, immunohistochemistry, and a mismatch repair germline mutation. There are at least four molecular pathways for colorectal cancer carcinogenesis: 1) adenoma-carcinoma sequence; 2) hereditary microsatellite instability; 3) serrated pathway; 4) epidermal growth factor receptor. The answer to diagnosing Lynch syndrome in the absence of colorectal cancer may be partially based upon the phenotypic characteristics of the colonic polyps should they be identified at colonoscopy, specifically their phenotypic characteristics of location, size, histology, number, and age of polyp onset.

  7. Universal Versus Targeted Screening for Lynch Syndrome: Comparing Ascertainment and Costs Based on Clinical Experience.

    Science.gov (United States)

    Erten, Mujde Z; Fernandez, Luca P; Ng, Hank K; McKinnon, Wendy C; Heald, Brandie; Koliba, Christopher J; Greenblatt, Marc S

    2016-10-01

    Strategies to screen colorectal cancers (CRCs) for Lynch syndrome are evolving rapidly; the optimal strategy remains uncertain. We compared targeted versus universal screening of CRCs for Lynch syndrome. In 2010-2011, we employed targeted screening (age Lynch syndrome and estimated the 5-year costs of preventing CRC by colonoscopy screening, using a system dynamics model. Using targeted screening, 51/175 (29 %) cancers fit criteria and were tested by immunohistochemistry; 15/51 (29 %, or 8.6 % of all CRCs) showed suspicious loss of ≥1 mismatch repair protein. Germline mismatch repair gene mutations were found in 4/4 cases sequenced (11 suspected cases did not have germline testing). Using universal screening, 17/292 (5.8 %) screened cancers had abnormal immunohistochemistry suspicious for Lynch syndrome. Germline mismatch repair mutations were found in only 3/10 cases sequenced (7 suspected cases did not have germline testing). The mean cost to identify Lynch syndrome probands was ~$23,333/case for targeted screening and ~$175,916/case for universal screening at our institution. Estimated costs to identify and screen probands and relatives were: targeted, $9798/case and universal, $38,452/case. In real-world Lynch syndrome management, incomplete clinical follow-up was the major barrier to do genetic testing. Targeted screening costs 2- to 7.5-fold less than universal and rarely misses Lynch syndrome cases. Future changes in testing costs will likely change the optimal algorithm.

  8. Brine Sampling and Evaluation Program, 1990 report

    Energy Technology Data Exchange (ETDEWEB)

    Deal, D.E.; Abitz, R.J.; Myers, J.; Case, J.B.; Martin, M.L.; Roggenthen, W.M. [International Technology Corp., Albuquerque, NM (United States); Belski, D.S. [Westinghouse Electric Corp., Carlsbad, NM (United States). Waste Isolation Div.

    1991-08-01

    The data presented in this report are the result of Brine Sampling and Evaluation Program (BSEP) activities at the Waste Isolation Pilot Plant (WIPP) during 1990. When excavations began in 1982, small brine seepages (weeps) were observed on the walls. These brine occurrences were initially described as part of the Site Validation Program. Brine studies were formalized in 1985. The BSEP activities document and investigate the origins, hydraulic characteristics, extent, and composition of brine occurrences in the Permian Salado Formation and seepage of that brine into the excavations at the WIPP. The brine chemistry is important because it assists in understanding the origin of the brine and because it may affect possible chemical reactions in the buried waste after sealing the repository. The volume of brine and the hydrologic system that drives the brine seepage also need to be understood to assess the long-term performance of the repository. After more than eight years of observations (1982--1990), no credible evidence exists to indicate that enough naturally occurring brine will seep into the WIPP excavations to be of practical concern. The detailed observations and analyses summarized herein and in previous BSEP reports confirm the evidence apparent during casual visits to the underground workings -- that the excavations are remarkably dry.

  9. Brine Sampling and Evaluation Program, 1990 report

    International Nuclear Information System (INIS)

    Deal, D.E.; Abitz, R.J.; Myers, J.; Case, J.B.; Martin, M.L.; Roggenthen, W.M.; Belski, D.S.

    1991-08-01

    The data presented in this report are the result of Brine Sampling and Evaluation Program (BSEP) activities at the Waste Isolation Pilot Plant (WIPP) during 1990. When excavations began in 1982, small brine seepages (weeps) were observed on the walls. These brine occurrences were initially described as part of the Site Validation Program. Brine studies were formalized in 1985. The BSEP activities document and investigate the origins, hydraulic characteristics, extent, and composition of brine occurrences in the Permian Salado Formation and seepage of that brine into the excavations at the WIPP. The brine chemistry is important because it assists in understanding the origin of the brine and because it may affect possible chemical reactions in the buried waste after sealing the repository. The volume of brine and the hydrologic system that drives the brine seepage also need to be understood to assess the long-term performance of the repository. After more than eight years of observations (1982--1990), no credible evidence exists to indicate that enough naturally occurring brine will seep into the WIPP excavations to be of practical concern. The detailed observations and analyses summarized herein and in previous BSEP reports confirm the evidence apparent during casual visits to the underground workings -- that the excavations are remarkably dry

  10. [Colorectal Carcinoma with Suspected Lynch Syndrome: A Multidisciplinary Algorithm].

    Science.gov (United States)

    Schneider, R; Schneider, C; Büttner, R; Reinacher-Schick, A; Tannapfel, A; Fürst, A; Rüschoff, J; Jakobeit, C; Royer-Pokora, B; Möslein, G

    2015-12-01

    Lynch syndrome is the most frequent hereditary cancer syndrome, accounting for approximately 3-5 % of all colorectal cancers. In addition, it is the most frequent predisposing hereditary cause of endometrial cancer and is also associated with gastric cancer, ovarian cancer, cancer of the urinary tract as well as several other cancers. In clinical practise Lynch syndrome is frequently not detected and many clinicians admit uncertainties regarding diagnostic procedures. Also, counselling of patients is considered difficult regarding therapeutic - especially prophylactic surgical and chemopreventive options and recommendations. Based on a review of available literature we discuss optimized strategies for improved detection of suspected Lynch syndrome patients. The aim of this review is to establish a clinical algorithm of how to proceed on a diagnostic level and to discuss surgical options at the time of a colorectal cancer. In order to identify patients with Lynch syndrome, family history should be ascertained and evaluated in regards to fulfilment of the Amsterdam-II- and/or the revised Bethesda criteria. Subsequently immunohistochemical staining for the mismatch-repair-genes, BRAF testing for MLH1 loss of expression, as well as testing for microsatellite instability in some, followed by genetic counselling and mutation analysis when indicated, is recommended. Pathological identification of suspected Lynch syndrome is readily feasible and straightforward. However, the need of performing these analyses in the tumor biopsy at the time of (gastroenterological) diagnosis of CRC neoplasia is essential, in order to offer patients the option of a prophylactically extended surgery and - as recommended in the German S3 guidelines - to discuss the option of a merely prophylactical hysterectomy and oophorectomy (if postmenopausal) in women. Close cooperation between gastroenterologists, pathologists and surgeons is warranted, so that patients may benefit from options of

  11. CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.

    Science.gov (United States)

    Ahadova, Aysel; von Knebel Doeberitz, Magnus; Bläker, Hendrik; Kloor, Matthias

    2016-10-01

    The implementation of regular colonoscopy programs has significantly decreased the mortality associated with colorectal cancer (CRC) in Lynch syndrome patients. However, interval CRCs in Lynch syndrome that remain undetected by colonoscopy still represent a substantial problem in the management of the syndrome. One possible reason of interval cancers could be a non-polypous pathway of cancer development. To examine the possibility of a non-polypous pathway of CRC development in Lynch syndrome, we analyzed the histological appearance of 46 Lynch syndrome-associated CRCs and compared them to 34 sporadic microsatellite unstable cancers. We observed that 25 (62.5 %) out of 40 assessable Lynch syndrome-associated carcinomas lacked evidence of polypous growth, compared to 17 (50 %) out of 34 sporadic MSI-H cancers. We detected CTNNB1 mutations in 8 (17.4 %) out of 46 Lynch syndrome-associated cancers compared to 0 out of 34 sporadic MSI-H cancers (p = 0.01). The majority of CTNNB1-mutant cancers presented with a histological appearance suggesting immediate invasive growth. Our results suggest that a distinct subgroup of CRCs in Lynch syndrome may in fact emerge from a non-polypous precursor, thus potentially explaining the phenomenon of interval cancers. Such a non-polypous precursor may be the recently described mismatch repair-deficient crypt focus, which remains invisible for the examiner during colonoscopy. This calls for considering the implementation of active, primary preventive measures in the management of Lynch syndrome. Future studies on pathogenic pathways and precursor lesions in Lynch syndrome are strongly encouraged, and the clinical efficacy of new prevention approaches should be evaluated in prospective clinical trials.

  12. Brine Sampling and Evaluation Program: 1988 report

    International Nuclear Information System (INIS)

    Deal, D.E.; Abitz, R.J.; Case, J.B.; Crawley, M.E.; Deshler, R.M.; Drez, P.E.; Givens, C.A.; King, R.B.; Myers, J.; Pietz, J.M.; Roggenthen, W.M.; Tyburski, J.R.; Belski, D.S.; Niou, S.; Wallace, M.G.

    1989-12-01

    The data presented in this report are the result of Brine Sampling and Evaluation Program (BSEP) activities at the Waste Isolation Pilot Plant (WIPP) during 1988. These activities, which are a continuation and update of studies that began in 1982 as part of the Site Validation Program, were formalized as the BSEP in 1985 to document and investigate the origins, hydraulic characteristics, extent, and composition of brine occurrences in the Permian Salado Formation, and seepage of that brine into the excavations at the WIPP. Previous BSEP reports (Deal and Case, 1987; Deal and others, 1987) described the results of ongoing activities that monitor brine inflow into boreholes in the facility, moisture content of the Salado Formation, brine geochemistry, and brine weeps and crusts. The information provided in this report updates past work and describes progress made during the calendar year 1988. During 1988, BSEP activities focused on four major areas to describe and quantify brine activity: (1) monitoring of brine inflow parameters, e.g., measuring brines recovered from holes drilled upward from the underground drifts (upholes), downward from the underground drifts (downholes), and near-horizontal holes; (2) characterizing the brine, e.g., the geochemistry of the brine and the presence of bacteria and their possible interactions with experiments and operations; (3) characterizing formation properties associated with the occurrence of brine; e.g., determining the water content of various geologic units, examining these units in boreholes using a video camera system, and measuring their resistivity (conductivity); and (4) modeling to examine the interaction of salt deformation near the workings and brine seepage through the deforming salt. 77 refs., 48 figs., 32 tabs

  13. Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations

    DEFF Research Database (Denmark)

    Nielsen, Sofie V,; Stein, Amelie; Dinitzen, Alexander B.

    2017-01-01

    selected the human mismatch repair protein, MSH2, where missense variants are known to cause the hereditary cancer predisposition disease, known as Lynch syndrome. We show that the majority of disease-causing MSH2 mutations give rise to folding defects and proteasome-dependent degradation rather than...... and for diagnosis of Lynch syndrome, and perhaps other hereditary diseases....

  14. Is there a role for prophylactic colectomy in Lynch syndrome patients with inflammatory bowel disease?

    Science.gov (United States)

    McNamara, Kate L; Aronson, Melyssa D; Cohen, Zane

    2016-01-01

    Lynch syndrome and chronic inflammatory bowel disease are two important risk factors for colorectal cancer. It is unclear whether Lynch syndrome patients with inflammatory bowel disease are at sufficiently increased risk for colorectal cancer to warrant prophylactic colectomy. This study aims to identify all cases of Lynch syndrome and concurrent inflammatory bowel disease in a large familial gastrointestinal cancer registry, define incidence of colorectal cancer, and characterize mismatch repair protein gene mutation status and inflammatory bowel disease-associated colorectal cancer risk factors. We retrospectively identified and collected clinical data for all cases with confirmed diagnoses of Lynch syndrome and inflammatory bowel disease in the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital in Toronto, Canada. Twelve cases of confirmed Lynch syndrome, and concurrent inflammatory bowel disease were identified. Four cases developed colorectal cancer. An additional five cases had colectomy; one was performed for severe colitis, and four were performed for low-grade dysplasia. None of these surgical specimens contained malignancy or high-grade dysplasia. The presentation of Lynch syndrome with inflammatory bowel disease is uncommon and not well described in the literature. This small but important series of twelve cases is the largest reported to date. In this series, patients with Lynch syndrome and concurrent inflammatory bowel disease do not appear to have sufficiently increased risk for colorectal cancer to recommend prophylactic surgery. Therefore, the decision to surgery should continue to be guided by surgical indications for each disease. Further evaluation of this important area will require multi-institutional input.

  15. Twenty hanging Dolls and a Lynching:

    DEFF Research Database (Denmark)

    Risør, Helene

    2010-01-01

    The article sets lynching of presumed criminals in the city of El Alto, Bolivia, in relation to both everyday experiences of insecurity about crime and violence and the enactment of neighborliness as a grounded notion of citizenship. Focusing on the experience and management of insecurity and its...

  16. Brine Sampling and Evaluation Program, 1991 report

    Energy Technology Data Exchange (ETDEWEB)

    Deal, D.E.; Abitz, R.J.; Myers, J.; Martin, M.L.; Milligan, D.J.; Sobocinski, R.W.; Lipponer, P.P.J. [International Technology Corp., Albuquerque, NM (United States); Belski, D.S. [Westinghouse Electric Corp., Carlsbad, NM (United States). Waste Isolation Div.

    1993-09-01

    The data presented in this report are the result of Brine Sampling and Evaluation Program (BSEP) activities at the Waste Isolation Pilot Plan (WIPP) during 1991. These BSEP activities document and investigate the origins, hydraulic characteristics, extent, and composition of brine occurrences in the Permian Salado Formation and seepage of that brine into the excavations at the WIPP. When excavations began at the WIPP in 1982, small brine seepages (weeps) were observed on the walls. Brine studies began as part of the Site Validation Program and were formalized as a program in its own right in 1985. During nine years of observations (1982--1991), evidence has mounted that the amount of brine seeping into the WIPP excavations is limited, local, and only a small fraction of that required to produce hydrogen gas by corroding the metal in the waste drums and waste inventory. The data through 1990 is discussed in detail and summarized by Deal and others (1991). The data presented in this report describes progress made during the calendar year 1991 and focuses on four major areas: (1) quantification of the amount of brine seeping across vertical surfaces in the WIPP excavations (brine ``weeps); (2) monitoring of brine inflow, e.g., measuring brines recovered from holes drilled downward from the underground drifts (downholes), upward from the underground drifts (upholes), and from subhorizontal holes; (3) further characterization of brine geochemistry; and (4) preliminary quantification of the amount of brine that might be released by squeezing the underconsolidated clays present in the Salado Formation.

  17. Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer.

    Science.gov (United States)

    Takeda, Takashi; Tsuji, Kosuke; Banno, Kouji; Yanokura, Megumi; Kobayashi, Yusuke; Tominaga, Eiichiro; Aoki, Daisuke

    2018-05-01

    Lynch syndrome is a cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes. Lynch syndrome only causes about 0.4% of cases of ovarian cancer, which suggests that universal screening may not be cost-efficient. However, the frequency of Lynch syndrome in ovarian cancer is unclear in the Asian population. The goal of the study was to investigate a screening strategy using family history. The subjects were 129 patients with ovarian cancer. Clinical and family history were collected using a self-administered questionnaire, and Society of Gynecologic Oncology (SGO) criteria 2007 and PREMM₅ were used for risk assessment. Microsatellite instability, immunohistochemistry, and methylation of MMR genes were analyzed. Of the 129 cases, 25 (19.4%) met the SGO criteria, and 4 of these 25 had MSI-high and MMR deficiency. Two cases had loss of MSH2 and MSH6, indicating MSH2 mutation, and the other two had loss of MLH1 and PMS2, including one without MLH1 methylation indicating MLH1 mutation. These results show that screening using family history can detect Lynch syndrome in 12.0% (3/25) of ovarian cancer cases. The 3 cases were positive for PREMM₅, but negative for Amsterdam II criteria and revised Bethesda guidelines. Genetic testing in one case with MSH2 and MSH6 deficiency confirmed the diagnosis of Lynch syndrome with MSH2 mutation. This is the first study of screening for Lynch syndrome in ovarian cancer using clinical and family history in an Asian population. This approach may be effective for diagnosis in these patients. Copyright © 2018. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology.

  18. Targeted Screening With Combined Age- and Morphology-Based Criteria Enriches Detection of Lynch Syndrome in Endometrial Cancer.

    Science.gov (United States)

    Lin, Douglas I; Hecht, Jonathan L

    2016-06-01

    Endometrial cancer is associated with Lynch syndrome in 2% to 6% of cases. Adequate screening may prevent of a second cancer and incident cancers in family members via risk-reducing strategies. The goal of the study was to evaluate the detection rate of Lynch syndrome via a targeted screening approach. In 2009, we incorporated targeted Lynch syndrome screening via immunohistochemistry for MLH1, PMS2, MSH2, and MSH6, followed by MLH1 promoter hypermethylation, in select cases of endometrial carcinoma. Criteria for patient selection included (1) all patients Lynch syndrome. Therefore, targeted screening with combined age and morphology based criteria enriches detection of Lynch syndrome in endometrial cancer. However, the detection rate is lower than the rates from published series that offer universal screening. © The Author(s) 2016.

  19. The identification of Lynch syndrome in Congolese colorectal cancer patients.

    Science.gov (United States)

    Poaty, Henriette; Aba Gandzion, Chandra; Soubeyran, Isabelle; Gassaye, Déby; Peko, Jean Félix; Nkoua Bon, Jean Bernard; Gombé Mbalawa, Charles

    2017-10-01

    We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville. We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC). We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95%=[0.34-0.41]. Only 14.7% (5/34) 95% CI=[0.34-2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI=[0.15-0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years). The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo. Copyright © 2017 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  20. Value-based healthcare in Lynch syndrome

    NARCIS (Netherlands)

    Hennink, Simone D; Hofland, N.; Gopie, J.P.; van der Kaa, C.; de Koning, K.; Nielsen, M.; Tops, C.; Morreau, H.; de Vos Tot Nederveen Cappel, W.H.; Langers, A.M.; Hardwick, J.C.; Gaarenstroom, K.N.; Tollenaar, R.A.; Veenendaal, R.A.; Tibben, A.; Wijnen, J.; van Heck, M.; van Asperen, C.; Roukema, J.A.; Hommes, D.W.; Hes, F.J.; Vasen, H.F.A.

    2013-01-01

    Lynch syndrome (LS), one of the most frequent forms of hereditary colorectal cancer (CRC), is caused by a defect in one of the mismatch repair (MMR) genes. Carriers of MMR defects have a strongly increased risk of developing CRC and endometrial cancer. Over the last few years, value-based healthcare

  1. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

    DEFF Research Database (Denmark)

    Burn, John; Bishop, D Timothy; Mecklin, Jukka-Pekka

    2008-01-01

    BACKGROUND: Observational and epidemiologic data indicate that the use of aspirin reduces the risk of colorectal neoplasia; however, the effects of aspirin in the Lynch syndrome (hereditary nonpolyposis colon cancer) are not known. Resistant starch has been associated with an antineoplastic effect...... on the colon. METHODS: In a randomized, placebo-controlled trial, we used a two-by-two design to investigate the effects of aspirin, at a dose of 600 mg per day, and resistant starch (Novelose), at a dose of 30 g per day, in reducing the risk of adenoma and carcinoma among persons with the Lynch syndrome...... on the incidence of colorectal adenoma or carcinoma among carriers of the Lynch syndrome. (Current Controlled Trials number, ISRCTN59521990.)...

  2. Origin, distribution, and movement of brine in the Permian Basin (U.S.A.). A model for displacement of connate brine

    International Nuclear Information System (INIS)

    Bein, A.; Dutton, A.R.

    1993-01-01

    Na-Cl, halite Ca-Cl, and gypsum Ca-Cl brines with salinities from 45 to >300 g/L are identified and mapped in four hydrostratigraphic units in the Permian Basin area beneath western Texas and Oklahoma and eastern New Mexico, providing spatial and lithologic constraints on the interpretation of the origin and movement of brine. Na-Cl brine is derived from meteoric water as young as 5-10 Ma that dissolved anhydrite and halite, whereas Ca-Cl brine is interpreted to be ancient, modified-connate Permian brine that now is mixing with, and being displaced by, the Na-Cl brine. Displacement fronts appear as broad mixing zones with no significant salinity gradients. Evolution of Ca-Cl brine composition from ideal evaporated sea water is attributed to dolomitization and syndepositional recycling of halite and bittern salts by intermittent influx of fresh water and sea water. Halite Ca-Cl brine in the evaporite section in the northern part of the basin differs from gypsum Ca-Cl brine in the south-central part in salinity and Na/Cl ratio and reflects segregation between halite- and gypsum-precipitating lagoons during the Permian. Ca-Cl brine moved downward through the evaporite section into the underlying Lower Permian and Pennsylvanian marine section that is now the deep-basin brine aquifer, mixing there with pre-existing sea water. Buoyancy-driven convection of brine dominated local flow for most of basin history, with regional advection governed by topographically related forces dominant only for the past 5 to 10 Ma. 71 refs., 11 figs

  3. What the physician needs to know about Lynch syndrome: an update.

    Science.gov (United States)

    Lynch, Henry T; Lynch, Jane F

    2005-04-01

    The Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), is the most common form of hereditary colorectal cancer (CRC), accounting for 2% to 7% of all CRC cases. The next most common hereditary CRC syndrome is familial adenomatous polyposis (FAP), which accounts for less than 1% of all CRC. Lynch syndrome is of crucial clinical importance due to the fact that it predicts the lifetime risk for CRC and a litany of extra-CRC cancers (of the endometrium, ovary, stomach, small bowel, hepatobiliary tract, upper uroepithelial tract, and brain) through assessment of a well-orchestrated family history. A Lynch syndrome diagnosis is almost certain when a mutation in a mismatch repair gene--most commonly MSH2, MLHI, or, to a lesser degree, MSH6--is identified. Once diagnosed, the potential for significant reduction in cancer-related morbidity and mortality through highly targeted surveillance may be profound. Particularly important is colonoscopy initiated at an early age (ie, 25 years) and repeated annually due to accelerated carcinogenesis. In women, endometrial aspiration biopsy and transvaginal ultrasound are important given the extraordinarily high risk for endometrial and ovarian carcinoma. These cancer control strategies have a major impact on at-risk family members once they have been counseled and educated thoroughly about Lynch syndrome's natural history and their own hereditary cancer risk.

  4. The B-Lynch uterine brace suture, and a bit of this and a bit of that...

    Science.gov (United States)

    Karoshi, Mahantesh

    2010-03-01

    The widespread application of the B-Lynch brace suture to control postpartum hemorrhage has sparked interest in a variety of adjunctive methods, used alone or in combination, to control uterine bleeding. Although the B-Lynch brace suture has been used with good results throughout the world, failures can and do occur in rare instances, especially when the suture is incorrectly placed for use for an inappropriate indication. Four reports of additional methods to control postpartum hemorrhage are published in this issue of IJGO. Three use the B-Lynch brace suture combined with other techniques. The need for additional techniques reminds the reader of the importance of proper suture application for proper indication. Potential reasons for failure of the B-Lynch suture are provided.

  5. How does genetic risk information for Lynch syndrome translate to risk management behaviours?

    Science.gov (United States)

    Steel, Emma; Robbins, Andrew; Jenkins, Mark; Flander, Louisa; Gaff, Clara; Keogh, Louise

    2017-01-01

    There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lynch syndrome non-carriers and carriers translate genetic risk information and advice to decisions about risk managment behaviours in the Australian healthcare system. Participants of the Australasian Colorectal Cancer Family Registry who had undergone predictive genetic testing for Lynch syndrome were interviewed on their risk management behaviours. Transcripts were analysed thematically using a comparative coding analysis. Thirty-three people were interviewed. Of the non-carriers ( n  = 16), 2 reported having apparently unnecessary colonoscopies, and 6 were unsure about what population-based colorectal cancer screening entails. Of the carriers ( n  = 17), 2 reported they had not had regular colonoscopies, and spoke about their discomfort with the screening process and a lack of faith in the procedure's ability to reduce their risk of developing colorectal cancer. Of the female carriers ( n  = 9), 2 could not recall being informed about the associated risk of gynaecological cancers. Non-carriers and female carriers of Lynch syndrome could benefit from further clarity and advice about appropriate risk management options. For those carriers who did not adhere to colonoscopy screening, a lack of faith in both genetic test results and screening were evident. It is essential that consistent advice is offered to both carriers and non-carriers of Lynch syndrome.

  6. Possible Mars brines - Equilibrium and kinetic considerations

    Science.gov (United States)

    Zent, A. P.; Fanale, F. P.

    1986-01-01

    To determine the fate of postulated near surface brines on Mars, the rate of H2O mass loss from subsurface brines was calculated as a function of latitude, depth, regolith porosity, eutectic temperature, and pore size. A model for a chemically reasonable brine that could reproduce Martian radar results was developed, and the escape rate of H2O molecules from such a brine was estimated. It is suggested that the presence of a low-permeability duricrust may be required to preserve such a brine for reasonable periods, and to prevent detection of an extensive subsurface system by the Viking MAWD instrument.

  7. The clinical phenotype of Lynch syndrome due to germline PMS2 mutations

    Science.gov (United States)

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D.; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N.; Lindor, Noralane M.; Young, Joanne; Winship, Ingrid; Dowty, James G.; White, Darren M.; Hopper, John L.; Baglietto, Laura; Jenkins, Mark A.; de la Chapelle, Albert

    2009-01-01

    Background and Aims Although the clinical phenotype of Lynch syndrome (also known as Hereditary Nonpolyposis Colorectal Cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. Methods We performed PMS2 mutation analysis using long range PCR and MLPA for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Results Germline PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2 fold higher and the incidence of endometrial cancer was 7.5 fold higher. In North America, this translates to a cumulative cancer risk to age 70 of 15–20% for colorectal cancer, 15% for endometrial cancer, and 25–32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. Conclusions PMS2 mutations contribute significantly to Lynch syndrome but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed. PMID:18602922

  8. On the physico-chemical characteristics of brines

    Digital Repository Service at National Institute of Oceanography (India)

    Shirodkar, P.V.; Rao, P.V.S.S.D.P.; Singbal, S.Y.S.

    Analyses of the natural brines form the salt lakes, salt pans and the artificial brines obtained after the solar desalination of seawater respectively, showed wide differences in their physico-chemical characteristics. The natural brines are markEd...

  9. Strategies to Identify the Lynch Syndrome Among Patients With Colorectal Cancer

    Science.gov (United States)

    Ladabaum, Uri; Wang, Grace; Terdiman, Jonathan; Blanco, Amie; Kuppermann, Miriam; Boland, C. Richard; Ford, James; Elkin, Elena; Phillips, Kathryn A.

    2013-01-01

    Background Testing has been advocated for all persons with newly diagnosed colorectal cancer to identify families with the Lynch syndrome, an autosomal dominant cancer-predisposition syndrome that is a paradigm for personalized medicine. Objective To estimate the effectiveness and cost-effectiveness of strategies to identify the Lynch syndrome, with attention to sex, age at screening, and differential effects for probands and relatives. Design Markov model that incorporated risk for colorectal, endometrial, and ovarian cancers. Data Sources Published literature. Target Population All persons with newly diagnosed colorectal cancer and their relatives. Time Horizon Lifetime. Perspective Third-party payer. Intervention Strategies based on clinical criteria, prediction algorithms, tumor testing, or up-front germline mutation testing, followed by tailored screening and risk-reducing surgery. Outcome Measures Life-years, cancer cases and deaths, costs, and incremental cost-effectiveness ratios. Results of Base-Case Analysis The benefit of all strategies accrued primarily to relatives with a mutation associated with the Lynch syndrome, particularly women, whose life expectancy could increase by approximately 4 years with hysterectomy and salpingo-oophorectomy and adherence to colorectal cancer screening recommendations. At current rates of germline testing, screening, and prophylactic surgery, the strategies reduced deaths from colorectal cancer by 7% to 42% and deaths from endometrial and ovarian cancer by 1% to 6%. Among tumor-testing strategies, immunohistochemistry followed by BRAF mutation testing was preferred, with an incremental cost-effectiveness ratio of $36 200 per life-year gained. Results of Sensitivity Analysis The number of relatives tested per proband was a critical determinant of both effectiveness and cost-effectiveness, with testing of 3 to 4 relatives required for most strategies to meet a threshold of $50 000 per life-year gained. Immunohistochemistry

  10. Mike Lynch

    DEFF Research Database (Denmark)

    Horst, Maja; Irwin, Alan

    associated with this position and especially its relationship to STS traditions of policy relevance and engagement. What does it mean for STS to do its job? Or rather, what does it mean for us to do our jobs? Taking inspiration both from Lynch’s published work and the different ways he has performed his STS...... jobs, this presentation will discuss the relationship between vacation, work, professional ethos and personal contribution in the context of STS.......In ’Science as a vacation’, Michael Lynch argues that ’STS might aim for something other than the serious job of doing business’. In so doing, he makes a strong case for an STS that does not aim to be useful but instead does ‘its own job’. In our presentation, we will explore some of the challenges...

  11. A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients.

    Science.gov (United States)

    Snowsill, Tristan; Huxley, Nicola; Hoyle, Martin; Jones-Hughes, Tracey; Coelho, Helen; Cooper, Chris; Frayling, Ian; Hyde, Chris

    2015-04-25

    Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Individuals with Lynch syndrome have an increased risk of colorectal cancer, endometrial cancer, ovarian and other cancers. Lynch syndrome remains underdiagnosed in the UK. Reflex testing for Lynch syndrome in early-onset colorectal cancer patients is proposed as a method to identify more families affected by Lynch syndrome and offer surveillance to reduce cancer risks, although cost-effectiveness is viewed as a barrier to implementation. The objective of this project was to estimate the cost-utility of strategies to identify Lynch syndrome in individuals with early-onset colorectal cancer in the NHS. A decision analytic model was developed which simulated diagnostic and long-term outcomes over a lifetime horizon for colorectal cancer patients with and without Lynch syndrome and for relatives of those patients. Nine diagnostic strategies were modelled which included microsatellite instability (MSI) testing, immunohistochemistry (IHC), BRAF mutation testing (methylation testing in a scenario analysis), diagnostic mutation testing and Amsterdam II criteria. Biennial colonoscopic surveillance was included for individuals diagnosed with Lynch syndrome and accepting surveillance. Prophylactic hysterectomy with bilateral salpingo-oophorectomy (H-BSO) was similarly included for women diagnosed with Lynch syndrome. Costs from NHS and Personal Social Services perspective and quality-adjusted life years (QALYs) were estimated and discounted at 3.5% per annum. All strategies included for the identification of Lynch syndrome were cost-effective versus no testing. The strategy with the greatest net health benefit was MSI followed by BRAF followed by diagnostic genetic testing, costing £5,491 per QALY gained over no testing. The effect of prophylactic H-BSO on health-related quality of life (HRQoL) is uncertain and could outweigh

  12. Brine Sampling and Evaluation Program: Phase 1 report

    International Nuclear Information System (INIS)

    Deal, D.E.; Case, J.B.

    1987-01-01

    This interim report presents preliminary data obtained in the course of the WIPP Brine Sampling and Evaluation Program. The investigations focus on the brine present in the near-field environment around the WIPP underground workings. Although the WIPP underground workings are considered dry, small amounts of brine are present. This amount of brine is not unexpected in rocks of marine sedimentary origin. Part of that brine can and does migrate into the repository in response to pressure gradients, at essentially isothermal conditions. These small volumes of brine have little effect on the day-to-day operations, but are pervasive throughout the repository and may contribute enough moisture over a period of years to affect resaturation and repressurization after sealing and closure. Gas bubbles are observed in many of the brine occurrences. Gas is also known to exsolve from solution as the brine is poured from container to container. 68 refs., 9 figs., 2 tabs

  13. Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Jönsson, Göran; Dominguez-Valentin, Mev

    2013-01-01

    Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours...... are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p...... and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which...

  14. Temperature profiles from XBT casts from the JENNIE & JACKIE as part of the Marine Resources Monitoring, Assessment and Prediction (MARMAP) project from 1978-07-31 to 1978-08-02 (NODC Accession 7800655)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Temperature profiles were collected from XBT casts from the JENNIE & JACKIE from 31 July 1978 to 02 August 1978. Data were collected by the National Marine...

  15. The mutational spectrum of Lynch syndrome in cyprus.

    Directory of Open Access Journals (Sweden)

    Maria A Loizidou

    Full Text Available Lynch syndrome is the most common form of hereditary colorectal cancer and is caused by germline mutations in the mismatch repair (MMR genes MLH1, MSH2, MSH6 and PMS2. Mutation carriers have an increased lifetime risk of developing colorectal cancer as well as other extracolonic tumours. The aim of the current study was to evaluate the frequency and distribution of mutations in the MLH1, MSH2 and MSH6 genes within a cohort of Cypriot families that fulfilled the revised Bethesda guidelines. The study cohort included 77 patients who fulfilled at least one of the revised Bethesda guidelines. Mutational analysis revealed the presence of 4 pathogenic mutations, 3 in the MLH1 gene and 1 in the MSH2 gene, in 5 unrelated individuals. It is noted that out of the 4 pathogenic mutations detected, one is novel (c.1610delG in exon 14 of the MLH1 and has been detected for the first time in the Cypriot population. Overall, the pathogenic mutation detection rate in our patient cohort was 7%. This percentage is relatively low but could be explained by the fact that the sole criterion for genetic screening was compliance to the revised Bethesda guidelines. Larger numbers of Lynch syndrome families and screening of the two additional predisposition genes, PMS2 and EPCAM, are needed in order to decipher the full spectrum of mutations associated with Lynch syndrome predisposition in Cyprus.

  16. Review of Feminist Bioethics At the Center, On the Margins, edited by Jackie Leach Scully, Laurel E. Baldwin-Ragaven, Petya Fitzpatrick

    Directory of Open Access Journals (Sweden)

    Sander-Staudt Maureen

    2010-12-01

    Full Text Available Abstract The anthology, Feminist Bioethics, edited by Jackie Leach Scully, Laurel E. Baldwin-Ragaven, and Petya Fitzpatrick, examines how feminist bioethics theoretically and methodologically challenges mainstream bioethics, and whether these approaches are useful for exploring difference in other contexts. It offers critical conceptual analyses of "autonomy", "universality", and "trust", and covers topics such as testing for hereditary cancer, prenatal selection for sexual orientation, midwifery, public health, disability, Indigenous research reform in Australia, and China's one child policy.

  17. Common mutations identified in the MLH1 gene in familial Lynch syndrome

    OpenAIRE

    Jisha Elias; Coral Karunakaran; Snigdha Majumder; Malini Manoharan; Rakshit Shah; Yogesh Mistry; Rajesh Ramanuj; Niraj Bhatt; Arati Khanna- Gupta

    2017-01-01

    Lynch syndrome (Hereditary Non Polyposis Colorectal Cancer, HNPCC) is one of the most common hereditary familial colorectal cancers (CRC) with an autosomal dominant pattern of inheritance. It accounts for 2-5% of the total CRCs reported worldwide. Although a lower incidence for CRCs have been observed in India, the last decade has shown a remarkable increase of CRC incidences (2-4 %). Features of Lynch syndrome associated colorectal cancer include early age of cancer onset, accelerated car...

  18. General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey.

    Science.gov (United States)

    Smith, Samuel G; Foy, Robbie; McGowan, Jennifer; Kobayashi, Lindsay C; Burn, John; Brown, Karen; Side, Lucy; Cuzick, Jack

    2017-10-01

    A dose non-inferiority study comparing 100 mg, 300 mg and 600 mg of aspirin for cancer prevention among Lynch Syndrome carriers is underway (Colorectal Adenoma/Carcinoma Prevention Programme trial 3, CaPP3). To guide implementation of the findings, we investigated general practitioner (GP) attitudes towards aspirin prescribing for Lynch Syndrome carriers. We surveyed 1007 UK GPs (9.6% response rate). Using a within-subjects design, GPs read a statement on harms and benefits of aspirin and indicated their willingness to prescribe aspirin at three doses (100 mg, 300 mg, 600 mg). Approximately two-thirds (70.8%) of GPs had heard of Lynch Syndrome or its associated names, and among those 46.7% were aware of the cancer preventive effects of aspirin among carriers. Two-thirds (68.1%) of GPs reported feeling comfortable discussing harms and benefits of aspirin with a Lynch Syndrome patient. Willingness to prescribe was 91.3% at 100 mg, and declined to 81.8% at 300 mg and 62.3% at 600 mg (p Lynch Syndrome patient in practice (OR 1.44, 95% CI 1.01-2.05, p = 0.045). GPs report limited awareness of Lynch Syndrome and the preventive effects of aspirin among carriers. To ensure the optimal dose identified in the CaPP3 trial is readily available to patients, prescribing guidance and strategies to educate GPs should be developed.

  19. Ssk or Esw? -- the Bloor-Lynch Debate Revisited

    Science.gov (United States)

    Cheng, Kai-Yuan

    2014-03-01

    Philosophical discussions of rule-following in the later Wittgenstein (1953, 1967) are an important source of inspiration for the development of views on the social nature of scientific knowledge. Two major opposing views in this inquiry -- Bloor's sociology of scientific knowledge (SSK) (1983, 1991, 1992, 1997) and Lynch's (1992, 1993) ethnomethodological studies of work (ESW) -- represent two positions derived from two different readings of Wittgenstein's later writings on rule-following. The aim of this paper is two-fold. One is to re-examine the noted Bloor-Lynch debate by considering Kusch's (2004) recent discussion of this debate. Another is to show that a new semantic framework of rule-following ascriptions based on a cognitive approach to the study of generics can be provided such that SSK and ESW are compatible in it (Leslie, 2009; Cheng, 2011).

  20. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen

    2011-01-01

    An increasing number of individuals seek genetic counseling and hereby learn about hereditary cancer in the family. Lynch syndrome is associated with an inherited high risk for colorectal and gynecological cancer, but knowledge about how family members at risk perceive their situation is limited....... We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... more often reported by women (odds ratio 1.8) and by individuals with less education (OR 1.8). This study provides the first extended use of the Lynch syndrome self-concept scale and suggests that the majority of the Danish mutation carriers adapt well to the situation, though knowledge about...

  1. Jarosite dissolution rates in perchlorate brine

    Science.gov (United States)

    Legett, Carey; Pritchett, Brittany N.; Elwood Madden, Andrew S.; Phillips-Lander, Charity M.; Elwood Madden, Megan E.

    2018-02-01

    Perchlorate salts and the ferric sulfate mineral jarosite have been detected at multiple locations on Mars by both landed instruments and orbiting spectrometers. Many perchlorate brines have eutectic temperatures bearing rocks and sediments may have been altered by perchlorate brines. Here we measured jarosite dissolution rates in 2 M sodium perchlorate brine as well as dilute water at 298 K to determine the effects of perchlorate anions on jarosite dissolution rates and potential reaction products. We developed a simple method for determining aqueous iron concentrations in high salinity perchlorate solutions using ultraviolet-visible spectrophotometry that eliminates the risk of rapid oxidation reactions during analyses. Jarosite dissolution rates in 2 M perchlorate brine determined by iron release rate (2.87 × 10-12 ±0.85 × 10-12 mol m-2 s-1) were slightly slower than the jarosite dissolution rate measured in ultrapure (18.2 MΩ cm-1) water (5.06 × 10-12 mol m-2 s-1) using identical methods. No additional secondary phases were observed in XRD analyses of the reaction products. The observed decrease in dissolution rate may be due to lower activity of water (ɑH2O = 0.9) in the 2 M NaClO4 brine compared with ultrapure water (ɑH2O = 1). This suggests that the perchlorate anion does not facilitate iron release, unlike chloride anions which accelerated Fe release rates in previously reported jarosite and hematite dissolution experiments. Since dissolution rates are slower in perchlorate-rich solutions, jarosite is expected to persist longer in perchlorate brines than in dilute waters or chloride-rich brines. Therefore, if perchlorate brines dominate aqueous fluids on the surface of Mars, jarosite may remain preserved over extended periods of time, despite active aqueous processes.

  2. Indsigter og udfordringer i danske Lynch-syndrom-familier

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Timshel, Susanne; Nilbert, Mef

    2008-01-01

    identified 88 unique mutations in 164 Danish families delineated as Lynch syndrome families. Predictive genetic diagnostics enables the identification of high risk individuals, who are offered participation in surveillance programmes that effectively reduce morbidity and mortality in colorectal cancer....

  3. Evaluation of Brine Processing Technologies for Spacecraft Wastewater

    Science.gov (United States)

    Shaw, Hali L.; Flynn, Michael; Wisniewski, Richard; Lee, Jeffery; Jones, Harry; Delzeit, Lance; Shull, Sarah; Sargusingh, Miriam; Beeler, David; Howard, Jeanie; hide

    2015-01-01

    Brine drying systems may be used in spaceflight. There are several advantages to using brine processing technologies for long-duration human missions including a reduction in resupply requirements and achieving high water recovery ratios. The objective of this project was to evaluate four technologies for the drying of spacecraft water recycling system brine byproducts. The technologies tested were NASA's Forward Osmosis Brine Drying (FOBD), Paragon's Ionomer Water Processor (IWP), NASA's Brine Evaporation Bag (BEB) System, and UMPQUA's Ultrasonic Brine Dewatering System (UBDS). The purpose of this work was to evaluate the hardware using feed streams composed of brines similar to those generated on board the International Space Station (ISS) and future exploration missions. The brine formulations used for testing were the ISS Alternate Pretreatment and Solution 2 (Alt Pretreat). The brines were generated using the Wiped-film Rotating-disk (WFRD) evaporator, which is a vapor compression distillation system that is used to simulate the function of the ISS Urine Processor Assembly (UPA). Each system was evaluated based on the results from testing and Equivalent System Mass (ESM) calculations. A Quality Function Deployment (QFD) matrix was also developed as a method to compare the different technologies based on customer and engineering requirements.

  4. A model-based assessment of the cost–utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients

    International Nuclear Information System (INIS)

    Snowsill, Tristan; Huxley, Nicola; Hoyle, Martin; Jones-Hughes, Tracey; Coelho, Helen; Cooper, Chris; Frayling, Ian; Hyde, Chris

    2015-01-01

    Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Individuals with Lynch syndrome have an increased risk of colorectal cancer, endometrial cancer, ovarian and other cancers. Lynch syndrome remains underdiagnosed in the UK. Reflex testing for Lynch syndrome in early-onset colorectal cancer patients is proposed as a method to identify more families affected by Lynch syndrome and offer surveillance to reduce cancer risks, although cost-effectiveness is viewed as a barrier to implementation. The objective of this project was to estimate the cost–utility of strategies to identify Lynch syndrome in individuals with early-onset colorectal cancer in the NHS. A decision analytic model was developed which simulated diagnostic and long-term outcomes over a lifetime horizon for colorectal cancer patients with and without Lynch syndrome and for relatives of those patients. Nine diagnostic strategies were modelled which included microsatellite instability (MSI) testing, immunohistochemistry (IHC), BRAF mutation testing (methylation testing in a scenario analysis), diagnostic mutation testing and Amsterdam II criteria. Biennial colonoscopic surveillance was included for individuals diagnosed with Lynch syndrome and accepting surveillance. Prophylactic hysterectomy with bilateral salpingo-oophorectomy (H-BSO) was similarly included for women diagnosed with Lynch syndrome. Costs from NHS and Personal Social Services perspective and quality-adjusted life years (QALYs) were estimated and discounted at 3.5% per annum. All strategies included for the identification of Lynch syndrome were cost-effective versus no testing. The strategy with the greatest net health benefit was MSI followed by BRAF followed by diagnostic genetic testing, costing £5,491 per QALY gained over no testing. The effect of prophylactic H-BSO on health-related quality of life (HRQoL) is uncertain and could

  5. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome : a cohort study

    NARCIS (Netherlands)

    Kempers, Marlies J. E.; Kuiper, Roland P.; Ockeloen, Charlotte W.; Chappuis, Pierre O.; Hutter, Pierre; Rahner, Nils; Schackert, Hans K.; Steinke, Verena; Holinski-Feder, Elke; Morak, Monika; Kloor, Matthias; Buettner, Reinhard; Verwiel, Eugene T. P.; van Krieken, J. Han; Nagtegaal, Iris D.; Goossens, Monique; van der Post, Rachel S.; Niessen, Renee C.; Sijmons, Rolf H.; Kluijt, Irma; Hogervorst, Frans B. L.; Leter, Edward M.; Gille, Johan J. P.; Aalfs, Cora M.; Redeker, Egbert J. W.; Hes, Frederik J.; Tops, Carli M. J.; van Nesselrooij, Bernadette P. M.; van Gijn, Marielle E.; Garcia, Encarna B. Gomez; Eccles, Diana M.; Bunyan, David J.; Syngal, Sapna; Stoffel, Elena M.; Culver, Julie O.; Palomares, Melanie R.; Graham, Tracy; Velsher, Lea; Papp, Janos; Olah, Edith; Chan, Tsun L.; Leung, Suet Y.; van Kessel, Ad Geurts; Kiemeney, Lambertus A. L. M.; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J. L.

    Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6, and PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. We previously showed that constitutional 3' end deletions of EPCAM can cause Lynch syndrome through epigenetic silencing of

  6. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

    Science.gov (United States)

    Yurgelun, Matthew B; Allen, Brian; Kaldate, Rajesh R; Bowles, Karla R; Judkins, Thaddeus; Kaushik, Praveen; Roa, Benjamin B; Wenstrup, Richard J; Hartman, Anne-Renee; Syngal, Sapna

    2015-09-01

    Multigene panels are commercially available tools for hereditary cancer risk assessment that allow for next-generation sequencing of numerous genes in parallel. However, it is not clear if these panels offer advantages over traditional genetic testing. We investigated the number of cancer predisposition gene mutations identified by parallel sequencing in individuals with suspected Lynch syndrome. We performed germline analysis with a 25-gene, next-generation sequencing panel using DNA from 1260 individuals who underwent clinical genetic testing for Lynch syndrome from 2012 through 2013. All patients had a history of Lynch syndrome-associated cancer and/or polyps. We classified all identified germline alterations for pathogenicity and calculated the frequencies of pathogenic mutations and variants of uncertain clinical significance (VUS). We also analyzed data on patients' personal and family history of cancer, including fulfillment of clinical guidelines for genetic testing. Of the 1260 patients, 1112 met National Comprehensive Cancer Network (NCCN) criteria for Lynch syndrome testing (88%; 95% confidence interval [CI], 86%-90%). Multigene panel testing identified 114 probands with Lynch syndrome mutations (9.0%; 95% CI, 7.6%-10.8%) and 71 with mutations in other cancer predisposition genes (5.6%; 95% CI, 4.4%-7.1%). Fifteen individuals had mutations in BRCA1 or BRCA2; 93% of these met the NCCN criteria for Lynch syndrome testing and 33% met NCCN criteria for BRCA1 and BRCA2 analysis (P = .0017). An additional 9 individuals carried mutations in other genes linked to high lifetime risks of cancer (5 had mutations in APC, 3 had bi-allelic mutations in MUTYH, and 1 had a mutation in STK11); all of these patients met NCCN criteria for Lynch syndrome testing. A total of 479 individuals had 1 or more VUS (38%; 95% CI, 35%-41%). In individuals with suspected Lynch syndrome, multigene panel testing identified high-penetrance mutations in cancer predisposition genes, many

  7. Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

    Science.gov (United States)

    Mork, Maureen E; Rodriguez, Andrea; Taggart, Melissa W; Rodriguez-Bigas, Miguel A; Lynch, Patrick M; Bannon, Sarah A; You, Y Nancy; Vilar, Eduardo

    2017-07-01

    Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion. Four probands whose Lynch syndrome-associated tumors demonstrated absence of MSH2/MSH6 staining and who had negative MMR germline testing were evaluated for the MSH2 inversion of exons 1-7, offered during initial genetic workup or upon routine clinical follow-up. All four probands tested positive for the MSH2 inversion. Proband cancer diagnoses included colon and endometrial adenocarcinoma and sebaceous adenoma. A variety of Lynch syndrome-associated cancers were reported in the family histories, although only one family met Amsterdam II criteria. Thirteen at-risk relatives underwent predictive testing. MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing. This testing should be offered routinely to patients with tumors demonstrating loss of MSH2/MSH6 staining.

  8. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

    Science.gov (United States)

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N; Lindor, Noralane M; Young, Joanne; Winship, Ingrid; Dowty, James G; White, Darren M; Hopper, John L; Baglietto, Laura; Jenkins, Mark A; de la Chapelle, Albert

    2008-08-01

    Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. We performed PMS2 mutation analysis using long-range polymerase chain reaction and multiplex ligation-dependent probe amplification for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Germ-line PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2-fold higher, and the incidence of endometrial cancer was 7.5-fold higher. In North America, this translates to a cumulative cancer risk to age 70 years of 15%-20% for colorectal cancer, 15% for endometrial cancer, and 25%-32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. PMS2 mutations contribute significantly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed.

  9. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

    DEFF Research Database (Denmark)

    Clendenning, Mark; Senter, Leigha; Hampel, Heather

    2008-01-01

    BACKGROUND: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (Lynch syndrome cases...... on immunohistochemical analysis. RESULTS: We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n=61). These individuals all display the rare allele (population...... are caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences. METHODS: Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based...

  10. Role of new endoscopic techniques in Lynch syndrome

    NARCIS (Netherlands)

    Haanstra, Jasmijn F.; Kleibeuker, Jan H.; Koornstra, Jan J.

    Lynch syndrome, or hereditary nonpolyposis colorectal cancer (HNPCC), is the most common hereditary condition predisposing for colorectal cancer. International guidelines recommend surveillance of the colorectum by colonoscopy every 1-2 years starting at the age of 20-25 years. This has been shown

  11. Pressure-driven brine migration in a salt repository

    International Nuclear Information System (INIS)

    Hwang, Y.; Chambre, P.L.; Pigford, T.H.; Lee, W.W.L.

    1989-01-01

    The traditional view is that salt is the ideal rock for isolation of nuclear waste because it is ''dry'' and probably ''impermeable.'' The existence of salt through geologic time is prima facie evidence of such properties. Experiments and experience at potential salt sites for geologic repositories have indicated that while porosity and permeability of salt are low, the salt may be saturated with brine. If this hypothesis is correct, then it is possible to have brine flow due to pressure differences within the salt. If there is pressure-driven brine migration in salt repositories then it is paramount to know the magnitude of such flow because inward brine flow would affect the corrosion rate of nuclear waste containers and outward brine flow might affect radionuclide transport rates. Brine exists in natural salt as inclusions in salt crystals and in grain boundaries. Brine inclusions in crystals move to nearby grain boundaries when subjected to a temperature gradient, because of temperature-dependent solubility of salt. Brine in grain boundaries moves under the influence of a pressure gradient. When salt is mined to create a waste repository, brine from grain boundaries will migrate into the rooms, tunnels and boreholes because these cavities are at atmospheric pressure. After a heat-emitting waste package is emplaced and backfilled, the heat will impose a temperature gradient in the surrounding salt that will cause inclusions in the nearby salt to migrate to grain boundaries within a few years, adding to the brine that was already present in the grain boundaries. The formulation of brine movement with salt as a thermoelastic porous medium, in the context of the continuum theory of mixtures, has been described. In this report we show the mathematical details and discuss the results predicted by this analysis

  12. Lynch Syndrome Caused by Germline PMS2 Mutations

    DEFF Research Database (Denmark)

    Ten Broeke, Sanne W; Brohet, Richard M; Tops, Carli M

    2015-01-01

    PURPOSE: The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. METHODS: Data were collected from 98...... PMS2 families ascertained from family cancer clinics that included a total of 2,548 family members and 377 proven mutation carriers. To adjust for potential ascertainment bias, a modified segregation analysis model was used to calculate colorectal cancer (CRC) and endometrial cancer (EC) risks....... Standardized incidence ratios (SIRs) were calculated to estimate risks for other Lynch syndrome-associated cancers. RESULTS: The cumulative risk (CR) of CRC for male mutation carriers by age 70 years was 19%. The CR among female carriers was 11% for CRC and 12% for EC. The mean age of CRC development was 52...

  13. A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome

    DEFF Research Database (Denmark)

    Boonstra, Philip S; Gruber, Stephen B; Raymond, Victoria M

    2010-01-01

    the issue of multiplex ascertainment and its effect on the different methods. We then focus on exploring genetic anticipation in Lynch syndrome and analyze new data on the age of onset in affected parent-child pairs from families seen at the University of Michigan Cancer Genetics clinic with a mutation...... in one of the three main mismatch repair (MMR) genes. In contrast to the clinic-based population, we re-analyze data on a population-based Lynch syndrome cohort, derived from the Danish HNPCC-register. Both datasets indicate evidence of genetic anticipation in Lynch syndrome. We then expand our review...

  14. Using Social Media Data to Understand the Impact of Promotional Information on Laypeople's Discussions: A Case Study of Lynch Syndrome.

    Science.gov (United States)

    Bian, Jiang; Zhao, Yunpeng; Salloum, Ramzi G; Guo, Yi; Wang, Mo; Prosperi, Mattia; Zhang, Hansi; Du, Xinsong; Ramirez-Diaz, Laura J; He, Zhe; Sun, Yuan

    2017-12-13

    Social media is being used by various stakeholders among pharmaceutical companies, government agencies, health care organizations, professionals, and news media as a way of engaging audiences to raise disease awareness and ultimately to improve public health. Nevertheless, it is unclear what effects this health information has on laypeople. This study aimed to provide a detailed examination of how promotional health information related to Lynch syndrome impacts laypeople's discussions on a social media platform (Twitter) in terms of topic awareness and attitudes. We used topic modeling and sentiment analysis techniques on Lynch syndrome-related tweets to answer the following research questions (RQs): (1) what are the most discussed topics in Lynch syndrome-related tweets?; (2) how promotional Lynch syndrome-related information on Twitter affects laypeople's discussions?; and (3) what impact do the Lynch syndrome awareness activities in the Colon Cancer Awareness Month and Lynch Syndrome Awareness Day have on laypeople's discussions and their attitudes? In particular, we used a set of keywords to collect Lynch syndrome-related tweets from October 26, 2016 to August 11, 2017 (289 days) through the Twitter public search application programming interface (API). We experimented with two different classification methods to categorize tweets into the following three classes: (1) irrelevant, (2) promotional health information, and (3) laypeople's discussions. We applied a topic modeling method to discover the themes in these Lynch syndrome-related tweets and conducted sentiment analysis on each layperson's tweet to gauge the writer's attitude (ie, positive, negative, and neutral) toward Lynch syndrome. The topic modeling and sentiment analysis results were elaborated to answer the three RQs. Of all tweets (N=16,667), 87.38% (14,564/16,667) were related to Lynch syndrome. Of the Lynch syndrome-related tweets, 81.43% (11,860/14,564) were classified as promotional and 18

  15. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance : first report from the prospective Lynch syndrome database

    NARCIS (Netherlands)

    Moller, Pal; Seppala, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rodland, Einar Andreas; Tharmaratnam, Kukatharmini; Cappel, Wouter H. de Vos Tot Nederveen; Hill, James; Wijnen, Juul; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M.; Plazzer, John-Paul; Pylvanainen, Kirsi; Sampson, Julian R.; Capella, Gabriel; Mecklin, Jukka-Pekka; Moslein, Gabriela

    Objective Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance. Design We undertook a multicentre

  16. Using Social Media Data to Understand the Impact of Promotional Information on Laypeople’s Discussions: A Case Study of Lynch Syndrome

    Science.gov (United States)

    Salloum, Ramzi G; Guo, Yi; Wang, Mo; Prosperi, Mattia; Zhang, Hansi; Du, Xinsong; Ramirez-Diaz, Laura J; He, Zhe

    2017-01-01

    Background Social media is being used by various stakeholders among pharmaceutical companies, government agencies, health care organizations, professionals, and news media as a way of engaging audiences to raise disease awareness and ultimately to improve public health. Nevertheless, it is unclear what effects this health information has on laypeople. Objective This study aimed to provide a detailed examination of how promotional health information related to Lynch syndrome impacts laypeople’s discussions on a social media platform (Twitter) in terms of topic awareness and attitudes. Methods We used topic modeling and sentiment analysis techniques on Lynch syndrome–related tweets to answer the following research questions (RQs): (1) what are the most discussed topics in Lynch syndrome–related tweets?; (2) how promotional Lynch syndrome–related information on Twitter affects laypeople’s discussions?; and (3) what impact do the Lynch syndrome awareness activities in the Colon Cancer Awareness Month and Lynch Syndrome Awareness Day have on laypeople’s discussions and their attitudes? In particular, we used a set of keywords to collect Lynch syndrome–related tweets from October 26, 2016 to August 11, 2017 (289 days) through the Twitter public search application programming interface (API). We experimented with two different classification methods to categorize tweets into the following three classes: (1) irrelevant, (2) promotional health information, and (3) laypeople’s discussions. We applied a topic modeling method to discover the themes in these Lynch syndrome–related tweets and conducted sentiment analysis on each layperson’s tweet to gauge the writer’s attitude (ie, positive, negative, and neutral) toward Lynch syndrome. The topic modeling and sentiment analysis results were elaborated to answer the three RQs. Results Of all tweets (N=16,667), 87.38% (14,564/16,667) were related to Lynch syndrome. Of the Lynch syndrome–related tweets, 81

  17. Surveillance for urinary tract cancer in Lynch syndrome

    DEFF Research Database (Denmark)

    Bernstein, Inge Thomsen; Myrhøj, Torben

    2013-01-01

    Hereditary non-polyposis colorectal cancer (HNPCC) is an inherited multiorgan cancer syndrome, which when caused by a germline mutation in the mismatch repair (MMR) genes is known as Lynch syndrome (LS). Mutation carriers are at risk for developing cancers primarily in the colon, rectum...

  18. Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas

    2013-01-01

    Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

  19. Neuroendocrine-type prostatic adenocarcinoma with microsatellite instability in a patient with lynch syndrome.

    Science.gov (United States)

    Wagner, David G; Gatalica, Zoran; Lynch, Henry T; Kohl, Shane; Johansson, Sonny L; Lele, Subodh M

    2010-12-01

    Lynch syndrome is an autosomal-dominant cancer syndrome that can be identified with microsatellite instability molecular tests or immunohistochemical stains on pathologic material from patients who meet the Amsterdam Criteria II. The development of prostatic carcinoma in situ or invasive small cell carcinoma (SCC) of the prostate has not been previously reported in a patient with this syndrome. In this report, an 87-year-old White man with the Lynch syndrome had a prostate biopsy that revealed a mixed high-grade conventional adenocarcinoma and SCC of the prostate with high-grade prostatic intraepithelial neoplasia of the small cell neuroendocrine-type (HGPIN-NE), all showing MSH2 microsatellite instability and loss of MSH2 expression, a finding not previously published. These findings suggest that HGPIN-NE is a precursor of invasive SCC and also that prostatic SCC can develop in a patient with the Lynch syndrome.

  20. Migration of brine inclusions in salt

    International Nuclear Information System (INIS)

    Pigford, T.H.

    1982-01-01

    Theories of the migration of brine inclusions in salt are interpreted as simple physical processes, and theories by Russian and U.S. workers are shown to yield the same results. The migration theory is used to predict threshold temperature gradients below which migration of brine inclusions should not occur. The predicted threshold gradients are compared with the temperature gradients expected at the Waste Isolation Pilot Plant in New Mexico. The theory of a threshold gradient helps explain the existence of brine inclusions in natural salt deposits

  1. Utility of MLH1 methylation analysis in the clinical evaluation of Lynch Syndrome in women with endometrial cancer.

    Science.gov (United States)

    Bruegl, Amanda S; Djordjevic, Bojana; Urbauer, Diana L; Westin, Shannon N; Soliman, Pamela T; Lu, Karen H; Luthra, Rajyalakshmi; Broaddus, Russell R

    2014-01-01

    Clinical screening criteria, such as young age of endometrial cancer diagnosis and family history of signature cancers, have traditionally been used to identify women with Lynch Syndrome, which is caused by mutation of a DNA mismatch repair gene. Immunohistochemistry and microsatellite instability analysis have evolved as important screening tools to evaluate endometrial cancer patients for Lynch Syndrome. A complicating factor is that 15-20% of sporadic endometrial cancers have immunohistochemical loss of the DNA mismatch repair protein MLH1 and high levels of microsatellite instability due to methylation of MLH1. The PCR-based MLH1 methylation assay potentially resolves this issue, yet many clinical laboratories do not perform this assay. The objective of this study was to determine if clinical and pathologic features help to distinguish sporadic endometrial carcinomas with MLH1 loss secondary to MLH1 methylation from Lynch Syndrome-associated endometrial carcinomas with MLH1 loss and absence of MLH1 methylation. Of 337 endometrial carcinomas examined, 54 had immunohistochemical loss of MLH1. 40/54 had MLH1 methylation and were designated as sporadic, while 14/54 lacked MLH1 methylation and were designated as Lynch Syndrome. Diabetes and deep myometrial invasion were associated with Lynch Syndrome; no other clinical or pathological variable distinguished the 2 groups. Combining Society of Gynecologic Oncology screening criteria with these 2 features accurately captured all Lynch Syndrome cases, but with low specificity. In summary, no single clinical/pathologic feature or screening criteria tool accurately identified all Lynch Syndrome-associated endometrial carcinomas, highlighting the importance of the MLH1 methylation assay in the clinical evaluation of these patients.

  2. Lynch syndrome: barriers to and facilitators of screening and disease management.

    Science.gov (United States)

    Watkins, Kathy E; Way, Christine Y; Fiander, Jacqueline J; Meadus, Robert J; Esplen, Mary Jane; Green, Jane S; Ludlow, Valerie C; Etchegary, Holly A; Parfrey, Patrick S

    2011-09-07

    Lynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions about disease management post-genetic testing. The study used a grounded theory approach to data collection and analysis as part of a multiphase project examining the psychosocial and behavioral impact of predictive DNA testing for Lynch syndrome. Individual and small group interviews were conducted with individuals from 10 families with the MSH2 intron 5 splice site mutation or exon 8 deletion. The data from confirmed carriers (n = 23) were subjected to re-analysis to identify key barriers to and/or facilitators of screening and disease management. Thematic analysis identified personal, health care provider and health care system factors as dominant barriers to and/or facilitators of managing Lynch syndrome. Person-centered factors reflect risk perceptions and decision-making, and enduring screening/disease management. The perceived knowledge and clinical management skills of health care providers also influenced participation in recommended protocols. The health care system barriers/facilitators are defined in terms of continuity of care and coordination of services among providers. Individuals with Lynch syndrome often encounter multiple barriers to and facilitators of disease management that go beyond the individual to the provider and health care system levels. The current organization and implementation of health care services are inadequate. A coordinated system of local services capable of providing integrated, efficient health care and follow-up, populated by providers with knowledge of hereditary cancer, is necessary to maintain optimal health.

  3. Lynch syndrome: barriers to and facilitators of screening and disease management

    Directory of Open Access Journals (Sweden)

    Watkins Kathy E

    2011-09-01

    Full Text Available Abstract Background Lynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions about disease management post-genetic testing. Methods The study used a grounded theory approach to data collection and analysis as part of a multiphase project examining the psychosocial and behavioral impact of predictive DNA testing for Lynch syndrome. Individual and small group interviews were conducted with individuals from 10 families with the MSH2 intron 5 splice site mutation or exon 8 deletion. The data from confirmed carriers (n = 23 were subjected to re-analysis to identify key barriers to and/or facilitators of screening and disease management. Results Thematic analysis identified personal, health care provider and health care system factors as dominant barriers to and/or facilitators of managing Lynch syndrome. Person-centered factors reflect risk perceptions and decision-making, and enduring screening/disease management. The perceived knowledge and clinical management skills of health care providers also influenced participation in recommended protocols. The health care system barriers/facilitators are defined in terms of continuity of care and coordination of services among providers. Conclusions Individuals with Lynch syndrome often encounter multiple barriers to and facilitators of disease management that go beyond the individual to the provider and health care system levels. The current organization and implementation of health care services are inadequate. A coordinated system of local services capable of providing integrated, efficient health care and follow-up, populated by providers with knowledge of hereditary cancer, is necessary to maintain optimal health.

  4. Same MSH2 Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation.

    Science.gov (United States)

    Liccardo, Raffaella; De Rosa, Marina; Duraturo, Francesca

    2018-01-01

    Lynch syndrome is an autosomal dominant syndrome that can be subdivided into Lynch syndrome I, or site-specific colonic cancer, and Lynch syndrome II, or extracolonic cancers, particularly carcinomas of the stomach, endometrium, biliary and pancreatic systems, and urinary tract. Lynch syndrome is associated with point mutations and large rearrangements in DNA MisMatch Repair ( MMR ) genes. This syndrome shows a variable phenotypic expression in people who carry pathogenetic mutations. So far, a correlation in genotype-phenotype has not been definitely established. In this study, we describe 2 Lynch syndrome cases presenting with the same genotype but different phenotypes and discuss possible reasons for this.

  5. Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

    DEFF Research Database (Denmark)

    Drost, Mark; Lützen, Anne; van Hees, Sandrine

    2013-01-01

    In many individuals suspected of the common cancer predisposition Lynch syndrome, variants of unclear significance (VUS), rather than an obviously pathogenic mutations, are identified in one of the DNA mismatch repair (MMR) genes. The uncertainty of whether such VUS inactivate MMR, and therefore...... function. When a residue identified as mutated in an individual suspected of Lynch syndrome is listed as critical in such a reverse diagnosis catalog, there is a high probability that the corresponding human VUS is pathogenic. To investigate the applicability of this approach, we have generated....... Nearly half of these critical residues match with VUS previously identified in individuals suspected of Lynch syndrome. This aids in the assignment of pathogenicity to these human VUS and validates the approach described here as a diagnostic tool. In a wider perspective, this work provides a model...

  6. Worldwide Practice Patterns in Lynch Syndrome Diagnosis and Management, Based on Data From the International Mismatch Repair Consortium.

    Science.gov (United States)

    Pan, Jennifer Y; Haile, Robert W; Templeton, Allyson; Macrae, Finlay; Qin, FeiFei; Sundaram, Vandana; Ladabaum, Uri

    2018-04-24

    Families with a history of Lynch syndrome often do not adhere to guidelines for genetic testing and screening. We investigated practice patterns related to Lynch syndrome worldwide, to ascertain potential targets for research and public policy efforts. We collected data from the International Mismatch Repair Consortium (IMRC), which comprises major research and clinical groups engaged in the care of families with Lynch syndrome worldwide. IMRC institutions were invited to complete a questionnaire to characterize diagnoses of Lynch syndrome and management practice patterns. Fifty-five providers, representing 63 of 128 member institutions (49%) in 21 countries, completed the questionnaire. For case finding, 55% of respondents reported participating in routine widespread population tumor testing among persons with newly diagnosed Lynch syndrome-associated cancers, whereas 27% reported relying on clinical criteria with selective tumor and/or germline analyses. Most respondents (64%) reported using multigene panels for germline analysis, and only 28% reported testing tumors for biallelic mutations for cases in which suspected pathogenic mutations were not confirmed by germline analysis. Respondents reported relying on passive dissemination of information to at-risk family members, and there was variation in follow through of genetic testing recommendations. Reported risk management practices varied-nearly all programs (98%) recommended colonoscopy every 1 to 2 years, but only 35% recommended chemoprevention with aspirin. There is widespread heterogeneity in management practices for Lynch syndrome worldwide among IMRC member institutions. This may reflect the rapid pace of emerging technology, regional differences in resources, and the lack of definitive data for many clinical questions. Future efforts should focus on the large numbers of high-risk patients without access to state-of-the-art Lynch syndrome management. Copyright © 2018 AGA Institute. Published by

  7. Brine migration in hot-pressed polycrystalline sodium chloride

    International Nuclear Information System (INIS)

    Biggers, J.V.; Dayton, G.O.

    1982-12-01

    This report describes experiments designed to provide data on brine migration in polycrystalline salt. Polycrystalling samples of various grain sizes, density, and purity were prepared from several commercial-grade salts by hot-pressing. Three distinct experimental set-ups were used to place salt billets in an induced thermal gradient in contact with brine source. The test designs varied primarily in the way in which the thermal gradient was applied and monitored and the way in which brine migration was determined. All migration was in enclosed vessels which precluded visual observation of brine movement through the microstructure. Migration velocities were estimated either by the timed appearance of brine at the hot face of the sample, or by determination of the penetration distance of migration artifacts in the microstructure after tests of fixed duration. For various reasons both of these methods were subject to a large degree of error. Our results suggest, however, that the migration velocity in dense polycrystalline salt may be at least an order of magnitude greater than that suggested by single-crystal experiments. Microstructural analysis shows that brine prefers to migrate along paths of high crystalline activity such as grain and subgrain boundaries and is dispersed rather quickly in the microstructure. A series of tests were performed using various types of tracers in brine in order to flag migration paths and locate brine in the microstructure more decisively. These attempts failed and it appears that only the aqueous portion of the brine moves through the microstructure with the dissolved ions being lost and replaced rather quickly. This suggests the use of deuterium as a tracer in future work

  8. Measurement and modeling of CO2 solubility in NaCl brine and CO2–saturated NaCl brine density

    DEFF Research Database (Denmark)

    Yan, Wei; Huang, Shengli; Stenby, Erling Halfdan

    2011-01-01

    over climate change and energy security. This work is an experimental and modeling study of two fundamental properties in high pressure CO2–NaCl brine equilibrium, i.e., CO2 solubility in NaCl brine and CO2–saturated NaCl brine density. A literature review of the available data was presented first...

  9. Ice Control with Brine on Highways

    DEFF Research Database (Denmark)

    Bolet, Lars

    traffic flow the spread rate of pure sodium chloride (and thus the environmental impact) in the pre-salting operations was cut back by more than one third. Compared to neighbouring counties the use of salt is less than fifty percent per square meter. In addition, supply of brine from two mixer...... of interpreting this information. The improvements gained by the county of Funen were mainly due to the use of technologies (brine spreading with nozzles) giving a more precise spread pattern than the traditional gritting of pre-wetted salt. Major challenges in the process have been to verify the higher quality...... of the nozzles spread pattern, to ensure maximum utilization of volume of brine carried by the spreading vehicles and to control the mixing of brine without getting stratification in the mixture. Moreover, of course, to ensure political approval of abandoning a well-served technology and to organize...

  10. Waste glass/metal interactions in brines

    International Nuclear Information System (INIS)

    Shade, J.W.; Pederson, L.R.; McVay, G.L.

    1983-05-01

    Leaching studies of MCC 76-68 glass in synthetic brines high in NaCl were performed from 50 to 150 0 C and included interactive testing with ductile iron and titanium. Hydrolysis of the glass matrix was generally slower in saturated brines than in deionized water, due to a lower solubility of silica in the brines. Inclusion of ductile iron in the tests resulted in accelerated leach rates because irion-silica reactions occurred which reduced the silica saturation fraction. At 150 0 C, iron also accelerated the rate of crystalline reaction product formation which were primarily Fe-bearing sepiolite and talc. 16 references

  11. Thyroid cancer in a patient with Lynch syndrome – case report and literature review

    Directory of Open Access Journals (Sweden)

    Fazekas-Lavu M

    2017-07-01

    Full Text Available Monika Fazekas-Lavu,1 Andrew Parker,2 Allan D Spigelman,3,4 Rodney J Scott,5 Richard J Epstein,6 Michael Jensen,7 Katherine Samaras1,8 1Department of Endocrinology, 2Department of Pathology, St Vincent’s Hospital, Darlinghurst, NSW, Australia; 3Hereditary Cancer Clinic, St Vincent’s Cancer Genetics Service, Darlinghurst, NSW, Australia; 4University of NSW, St Vincent’s Clinical School, Darlinghurst, NSW, Australia; 5Division of Molecular Medicine, Pathology North, John Hunter Hospital and The Hunter Medical Research Institute, Newcastle, NSW, Australia; 6Department of Oncology, 7Department of Oncological Surgery/General Surgery, St Vincent’s Hospital, Darlinghurst, NSW, Australia; 8Diabetes and Metabolism Research Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia Abstract: Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1, MSH2, MSH6, and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in thyroid malignancies. This study reports a woman with Lynch syndrome (colonic cancer and a DNA mismatch repair mutation in the MSH2 gene with a synchronous papillary thyroid cancer. Six years later, she developed metachronous breast cancer. Metastatic bone disease developed after 3 years, and the disease burden was due to both breast and thyroid diseases. Despite multiple interventions for both metastatic breast and thyroid diseases, the patient’s metastatic burden progressed and she died of leptomeningeal metastatic disease. Two prior case reports suggested thyroid cancer may be an extraintestinal malignancy of the Lynch syndrome cancer group. Hence, this study examined the genetic relationship between the patient’s known Lynch syndrome and her

  12. Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X.

    Science.gov (United States)

    Haraldsson, Stefan; Klarskov, Louise; Nilbert, Mef; Bernstein, Inge; Bonde, Jesper; Holck, Susanne

    2017-01-01

    Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). Differences in genetics, demographics and histopathology have been extensively studied. The purpose of this study is to characterize their immunoprofile of markers other than MMR proteins. We compared the expression patterns of cytokeratins (CK7 and CK20), mucins (MUC2/5 AC/6), CDX2 and β-catenin in Lynch syndrome and FCCTX. Differences were identified for CK20 and nuclear β-catenin, which were significantly more often expressed in FCCTX than in Lynch syndrome ( p  Lynch syndrome tumors compared with FCCTX tumors ( p  = 0.001, Lynch syndrome with a more sporadic-like profile in the former group and a more distinct profile with frequent MUC6 positivity in the latter group.

  13. The effectiveness of the double B-lynch suture as a modification in the treatment of intractable postpartum haemorrhage.

    Science.gov (United States)

    Şahin, Hanifi; Soylu Karapınar, Oya; Şahin, Eda Adeviye; Dolapçıoğlu, Kenan; Baloğlu, Ali

    2018-03-20

    A broader range of more effective compression techniques are needed in the patients who have an intractable postpartum haemorrhage due to uterine atony despite medical treatment and B-Lynch sutures. The aim of this study was to report the outcome of a series of patients with haemorrhage who were managed by double B-Lynch suture. Fourteen patients who were treated in a tertiary hospital between July 2010 and February 2015 were included in the study. The intractable haemorrhage rate was 0.35% over 5 years (14/4000 births). Bleeding was controlled in all the patients with a double B-Lynch suture. The mean age of the patients was 24 ± 3.4 years. The mean estimated blood loss was 1696 ± 272.075 mL, and the mean transfusion rate was 4.2 ± 2.5 units. Pregnancy was observed in five patients at follow up. The double B-Lynch suture seems to be an effective and reliable solution to an intractable postpartum haemorrhage resulting from uterine atony and has no unfavourable impacts on fertility. It should be considered before the use of any aggressive surgical techniques such as a hypogastric artery ligation or a hysterectomy. This the first study to investigate the effectiveness of the double B-Lynch suture, and we showed that the hysterectomy and/or hypogastric artery ligation rate can be decreased by adding a second B-Lynch suture in cases where the medical treatment or a single B-Lynch has failed. Impact statement What is already known on the subject? Uterine atony is the most common cause of a primary postpartum haemorrhage. When a simple massage of the uterus and medication failed to manage this condition, various surgical solutions have been sought, including uterine compression sutures, uterine artery ligation, devascularisation of the uterus, internal iliac artery ligation and, ultimately, a hysterectomy. The B-Lynch suturing technique is particularly useful because of its simplicity of application, life-saving potential, relative safety and capacity

  14. Sense of coherence and self-concept in Lynch syndrome

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Ladelund, Steen; Carlsson, Christina

    2013-01-01

    Most individuals who learn about hereditary cancer manage well, but identification of subgroups who find this knowledge burdening would allow psychosocial intervention. The objective of the study was to assess sense of coherence (SOC) in individuals with Lynch syndrome with comparison to a general...

  15. Fas Ligand Expression in Lynch Syndrome-Associated Colorectal Tumours

    NARCIS (Netherlands)

    Koornstra, Jan J.; de Jong, Steven; Boersma-van Eck, Wietske; Zwart, Nynke; Hollema, Harry; de Vries, Elisabeth G. E.; Kleibeuker, Jan H.

    Fas Ligand (FasL) expression by cancer cells may contribute to tumour immune escape via the Fas counterattack against tumour-infiltrating lymphocytes (TILs). Whether this plays a role in colorectal carcinogenesis in Lynch syndrome was examined studying FasL expression, tumour cell apoptosis and

  16. REFUSE OF FERMENTATION BRINES IN THE CUCUMBER PICKLING INDUSTRY

    Science.gov (United States)

    The project evaluated on a commercial scale the technological and economic feasibility of recycling spent cucumber fermentation brine. Two brine treatment procedures, heat treatment and chemical treatment, were used. The results showed that brine recycling was practical on a comm...

  17. LYNCHING IN RUSSIAN COUNTRYSIDE (late XIX-early XX

    Directory of Open Access Journals (Sweden)

    Vladimir Borisovich Bezgin

    2013-08-01

    Full Text Available Research actuality is due to the frequent attempts of extrajudicial killings of criminals in the country as a result of the citizens' law enforcement distrust, their doubt of deserved retribution.Such phenomenon of legal life of the Russian countryside as a lynch mob is studied in the article on the basis of a wide range of archival and ethnographic sources. The author analyzes the crimes for which the perpetrators are arbitrarily subjected to massacre in the village. The role of the peasant community in the punishment implementation of criminals was found out. The causes of the stability of this tradition in rural society were set.Lynching played an effective means of suppression of unlawful acts of the peasants. The collective nature of the spontaneously created killings of criminals was the result of mutual responsibility of community members and rural solidarity preservation condition. According to farmers gathering verdict gave legal force to massacre and left no doubt about the justice of the decision.DOI: http://dx.doi.org/10.12731/2218-7405-2013-8-1

  18. Universal tumor screening for Lynch syndrome: Assessment of the perspectives of patients with colorectal cancer regarding benefits and barriers.

    Science.gov (United States)

    Hunter, Jessica Ezzell; Zepp, Jamilyn M; Gilmore, Mari J; Davis, James V; Esterberg, Elizabeth J; Muessig, Kristin R; Peterson, Susan K; Syngal, Sapna; Acheson, Louise S; Wiesner, Georgia L; Reiss, Jacob A; Goddard, Katrina A B

    2015-09-15

    Universal tumor screening for Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), has been recommended among all patients newly diagnosed with CRC. However, there is limited literature regarding patient perspectives of tumor screening for Lynch syndrome among patients with CRC who are not selected for screening based on family history criteria. A total of 145 patients aged 39 to 87 years were administered surveys assessing perceived risk, patient perspectives, and potential benefits of and barriers to tumor screening for Lynch syndrome. Associations between patient-specific and cancer-specific factors and survey responses were analyzed. The majority of participants perceived their risk of developing Lynch syndrome as being low, with 9 participants (6.2%) anticipating an abnormal screening result. However, most participants endorsed the potential benefits of screening for themselves and their families, with 84.8% endorsing ≥6 benefits and 50.3% endorsing all 8 benefits. Participants also endorsed few potential barriers to screening, with 89.4% endorsing ≤4 of 9 potential barriers. A common barrier was worry about the cost of additional testing and surveillance, which was endorsed by 54.5% of participants. The level of distress associated with tumor screening for Lynch syndrome, which was very low, was not associated with age or CRC stage. The results of the current study indicate that patients with CRC overall have a positive attitude toward tumor screening for Lynch syndrome, endorse the benefits of screening, and experience low levels of distress. These findings provide insight into patient attitudes toward tumor screening for Lynch syndrome among unselected patients with CRC to inform educational approaches that assist in patient decision-making and guide the successful implementation of screening programs. © 2015 The Authors. Cancer published by Wiley Periodicals, Inc. on behalf of American Cancer Society.

  19. Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.

    Science.gov (United States)

    Djordjevic, Bojana; Broaddus, Russell R

    2016-06-01

    This article reviews the main tissue testing modalities for Lynch Syndrome in the pathology laboratory, such as immunohistochemistry and PCR based analyses, and discusses their routine application, interpretation pitfalls, and troubleshooting of common technical performance issues. Discrepancies between laboratory and genetic testing may arise, and are examined in the context of the complexity of molecular abnormalities associated with Lynch Syndrome. The merits of targeted versus universal screening in a changing healthcare climate are addressed. In the absence of comprehensive screening programs, specific tumor topography and histological features that may prompt pathologist-initiated molecular tumor testing are outlined. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. The Brine Sampling and Evaluation Program (PSEP) at WIPP

    International Nuclear Information System (INIS)

    Deal, D.E.; Roggenthen, W.M.

    1989-01-01

    The Permian salt beds of the WIPP facility are virtually dry. The amount of water present in the rocks exposed in the excavations that is free to migrate under pressure gradients was estimated by heating salt samples to 95 degrees C and measuring weight loss. Clear balite contains about 0.22 weight percent water and the more argillaceous units average about 0.75 percent. Measurements made since 1984 as part of the Brine Sampling and Evaluation Program (BSEP) indicate that small amounts of this brine can migrate into the excavations and does accumulate in the underground environment. Brine seepage into drillholes monitored since thy were drilled show that brine seepage decreases with time and that many have dried up entirely. Weeping of brine from the walls of the repository excavations also decreases after two or more years. Chemical analyses of brines shows that they are sodium-chloride saturated and magnesium-rich

  1. Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Isinger-Ekstrand, Anna; Ladelund, Steen

    2012-01-01

    Founder mutations with a large impact in distinct populations have been described in Lynch syndrome. In Denmark, the MLH1 c.1667+2_1667_+8TAAATCAdelinsATTT mutation accounts for 25 % of the MLH1 mutant families. We used the national Danish hereditary nonpolyposis colorectal cancer register...... to estimate the cumulative lifetime risks for Lynch syndrome-associated cancer in 16 founder mutation families with comparison to 47 other MLH1 mutant families. The founder mutation conferred comparable risks for colorectal cancer (relative risks, RR, of 0.99 for males and 0.79 for females) and lower risks...... in 68 % with extensive inter-tumor variability despite the same underlying germline mutation. In conclusion, the Danish MLH1 founder mutation that accounts for a significant proportion of Lynch syndrome and is associated with a lower risk for extracolonic cancers....

  2. Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry.

    Science.gov (United States)

    Pande, Mala; Wei, Chongjuan; Chen, Jinyun; Amos, Christopher I; Lynch, Patrick M; Lu, Karen H; Lucio, Laura A; Boyd-Rogers, Stephanie G; Bannon, Sarah A; Mork, Maureen E; Frazier, Marsha L

    2012-09-01

    The spectrum of cancers seen in a hospital based Lynch syndrome registry of mismatch repair gene mutation carriers was examined to determine the distribution of cancers and examine excess cancer risk. Overall there were 504 cancers recorded in 368 mutation carriers from 176 families. These included 236 (46.8 %) colorectal and 268 (53.2 %) extracolonic cancers. MLH1 mutation carriers had a higher frequency of colorectal cancers whereas MSH2, MSH6 and PMS2 mutation carriers had more extracolonic cancers although these differences were not statistically significant. Men had fewer extracolonic cancers than colorectal (45.3 vs. 54.7 %), whereas women had more extracolonic than colorectal cancers (59.0 vs. 41.0 %). The mean age at diagnosis overall for extracolonic cancers was older than for colorectal, 49.1 versus 44.8 years (P ≤ 0.001). As expected, the index cancer was colorectal in 58.1 % of patients and among the extracolonic index cancers, endometrial was the most common (13.8 %). A significant number of non-Lynch syndrome index cancers were recorded including breast (n = 5) prostate (n = 3), thyroid (n = 3), cervix (n = 3), melanoma (n = 3), and 1 case each of thymoma, sinus cavity, and adenocarcinoma of the lung. However, standardized incidence ratios calculated to assess excess cancer risk showed that only those cancers known to be associated with Lynch syndrome were significant in our sample. We found that Lynch syndrome patients can often present with cancers that are not considered part of Lynch syndrome. This has clinical relevance both for diagnosis of Lynch syndrome and surveillance for cancers of different sites during follow-up of these patients.

  3. Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance.

    Science.gov (United States)

    Niskakoski, Anni; Pasanen, Annukka; Lassus, Heini; Renkonen-Sinisalo, Laura; Kaur, Sippy; Mecklin, Jukka-Pekka; Bützow, Ralf; Peltomäki, Päivi

    2018-03-27

    Molecular alterations preceding endometrial and ovarian cancer and the sequence of events are unknown. Consecutive specimens from lifelong surveillance for Lynch syndrome provides a natural setting to address such questions. To molecularly define the multistep gynecological tumorigenesis, DNA mismatch repair gene mutation carriers with endometrial or ovarian carcinoma or endometrial hyperplasia were identified from a nation-wide registry and endometrial biopsy specimens taken from these individuals during 20 years of screening were collected. A total of 213 endometrial and ovarian specimens from Lynch syndrome individuals and 197 histology-matched (non-serous) samples from sporadic cases were available for this investigation. The specimens were profiled for markers linked to endometrial and ovarian tumorigenesis, including ARID1A protein expression, mismatch repair status, and tumor suppressor gene promoter methylation. In Lynch syndrome-associated endometrial and ovarian carcinomas, ARID1A protein was lost in 61-100% and mismatch repair was deficient in 97-100%, compared to 0-17% and 14-44% in sporadic cases (P = 0.000). ARID1A loss appeared in complex hyperplasia and deficient mismatch repair and tumor suppressor gene promoter methylation in histologically normal endometrium. Despite quantitative differences between Lynch syndrome and sporadic cases, ARID1A expression, mismatch repair, and tumor suppressor gene promoter methylation divided endometrial samples from both patient groups into three categories of increasing abnormality, comprising normal endometrium and simple hyperplasia (I), complex hyperplasia with or without atypia (II), and endometrial cancer (III). Complex hyperplasias without vs. with atypia were molecularly indistinguishable. In conclusion, surveillance specimens from Lynch syndrome identify mismatch repair deficiency, tumor suppressor gene promoter methylation, and ARID1A loss as early changes in tumor development. Our findings are

  4. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

    Science.gov (United States)

    Haraldsdottir, Sigurdis; Rafnar, Thorunn; Frankel, Wendy L; Einarsdottir, Sylvia; Sigurdsson, Asgeir; Hampel, Heather; Snaebjornsson, Petur; Masson, Gisli; Weng, Daniel; Arngrimsson, Reynir; Kehr, Birte; Yilmaz, Ahmet; Haraldsson, Stefan; Sulem, Patrick; Stefansson, Tryggvi; Shields, Peter G; Sigurdsson, Fridbjorn; Bekaii-Saab, Tanios; Moller, Pall H; Steinarsdottir, Margret; Alexiusdottir, Kristin; Hitchins, Megan; Pritchard, Colin C; de la Chapelle, Albert; Jonasson, Jon G; Goldberg, Richard M; Stefansson, Kari

    2017-05-03

    Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry. Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethylation or mutations in the mismatch repair genes. The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk. We find thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk. We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations.

  5. Expected brine movement at potential nuclear waste repository salt sites

    International Nuclear Information System (INIS)

    McCauley, V.S.; Raines, G.E.

    1987-08-01

    The BRINEMIG brine migration code predicts rates and quantities of brine migration to a waste package emplaced in a high-level nuclear waste repository in salt. The BRINEMIG code is an explicit time-marching finite-difference code that solves a mass balance equation and uses the Jenks equation to predict velocities of brine migration. Predictions were made for the seven potentially acceptable salt sites under consideration as locations for the first US high-level nuclear waste repository. Predicted total quantities of accumulated brine were on the order of 1 m 3 brine per waste package or less. Less brine accumulation is expected at domal salt sites because of the lower initial moisture contents relative to bedded salt sites. Less total accumulation of brine is predicted for spent fuel than for commercial high-level waste because of the lower temperatures generated by spent fuel. 11 refs., 36 figs., 29 tabs

  6. Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Haraldsson, Stefan; Klarskov, Louise; Nilbert, Mef

    2017-01-01

    BACKGROUND: Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). Differences in genetics, demographics and histopathology have been extensively studied. The purpose of this study is to characterize their immunoprofile of markers other...... than MMR proteins. METHODS: We compared the expression patterns of cytokeratins (CK7 and CK20), mucins (MUC2/5 AC/6), CDX2 and β-catenin in Lynch syndrome and FCCTX. RESULTS: Differences were identified for CK20 and nuclear β-catenin, which were significantly more often expressed in FCCTX than in Lynch...... syndrome (p Lynch syndrome tumors compared with FCCTX tumors (p = 0.001,

  7. Brine flow in heated geologic salt.

    Energy Technology Data Exchange (ETDEWEB)

    Kuhlman, Kristopher L.; Malama, Bwalya

    2013-03-01

    This report is a summary of the physical processes, primary governing equations, solution approaches, and historic testing related to brine migration in geologic salt. Although most information presented in this report is not new, we synthesize a large amount of material scattered across dozens of laboratory reports, journal papers, conference proceedings, and textbooks. We present a mathematical description of the governing brine flow mechanisms in geologic salt. We outline the general coupled thermal, multi-phase hydrologic, and mechanical processes. We derive these processes governing equations, which can be used to predict brine flow. These equations are valid under a wide variety of conditions applicable to radioactive waste disposal in rooms and boreholes excavated into geologic salt.

  8. Stratification and space-time variability of Red Sea hot brines

    Energy Technology Data Exchange (ETDEWEB)

    Monin, A S; Plakhin, E A

    1982-11-01

    The results of hydrophysical studies in Red Sea hot brines prefaced with historical information are presented. The CTD-recorder readings show stratification of the upper brine in the Atlantis II Deep into meter-scale layers, in agreement with laboratory findings. Repeated soundings with the AIST CTD meter of the upper brine interface in the Valdivia Deep recorded internal waves of 3 to 4-h periods. The observations show the different nature of brines in the four deeps studied and the lack of contact between the brine layers of the Chain and Discovery deeps.

  9. Zooplankton at deep Red Sea brine pools

    KAUST Repository

    Kaartvedt, Stein

    2016-03-02

    The deep-sea anoxic brines of the Red Sea comprise unique, complex and extreme habitats. These environments are too harsh for metazoans, while the brine–seawater interface harbors dense microbial populations. We investigated the adjacent pelagic fauna at two brine pools using net tows, video records from a remotely operated vehicle and submerged echosounders. Waters just above the brine pool of Atlantis II Deep (2000 m depth) appeared depleted of macrofauna. In contrast, the fauna appeared to be enriched at the Kebrit Deep brine–seawater interface (1466 m).

  10. Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol.

    Science.gov (United States)

    Taylor, Natalie; Long, Janet C; Debono, Deborah; Williams, Rachel; Salisbury, Elizabeth; O'Neill, Sharron; Eykman, Elizabeth; Braithwaite, Jeffrey; Chin, Melvin

    2016-03-12

    Lynch syndrome is an inherited disorder associated with a range of cancers, and found in 2-5 % of colorectal cancers. Lynch syndrome is diagnosed through a combination of significant family and clinical history and pathology. The definitive diagnostic germline test requires formal patient consent after genetic counselling. If diagnosed early, carriers of Lynch syndrome can undergo increased surveillance for cancers, which in turn can prevent late stage cancers, optimise treatment and decrease mortality for themselves and their relatives. However, over the past decade, international studies have reported that only a small proportion of individuals with suspected Lynch syndrome were referred for genetic consultation and possible genetic testing. The aim of this project is to use behaviour change theory and implementation science approaches to increase the number and speed of healthcare professional referrals of colorectal cancer patients with a high-likelihood risk of Lynch syndrome to appropriate genetic counselling services. The six-step Theoretical Domains Framework Implementation (TDFI) approach will be used at two large, metropolitan hospitals treating colorectal cancer patients. Steps are: 1) form local multidisciplinary teams to map current referral processes; 2) identify target behaviours that may lead to increased referrals using discussion supported by a retrospective audit; 3) identify barriers to those behaviours using the validated Influences on Patient Safety Behaviours Questionnaire and TDFI guided focus groups; 4) co-design interventions to address barriers using focus groups; 5) co-implement interventions; and 6) evaluate intervention impact. Chi square analysis will be used to test the difference in the proportion of high-likelihood risk Lynch syndrome patients being referred for genetic testing before and after intervention implementation. A paired t-test will be used to assess the mean time from the pathology test results to referral for high

  11. Uranium mobility in non-oxidizing brines: field and experimental evidence

    International Nuclear Information System (INIS)

    Giblin, A.M.; Appleyard, E.C.

    1987-01-01

    The present distribution of U in the Wollaston Sediments in Saskatchewan can be related to the movement of brines as revealed in Na-Ca-Mg-Cl-metasomes. Experiments were conducted at 60 and 200 0 C under stringently non-oxidizing conditions using solvents ranging from distilled water to a Ca-Na-K brine formulated to simulate the major element composition of the Salton Sea geothermal brines. The experiments were conducted on natural pitchblende (UOsub(2.67)) and synthetic uraninite (UOsub(2.01)). Natural pitchblende was more strongly dissolved than the synthetic uraninite, and the synthetic Salton Sea brine was a more potent solvent than distilled water, 1:4 diluted Salton Sea brine, or pure NaCl brine. Within analytical limits of detection the dissolved U is present in the uranous (U 4+ ) state. The evidence demonstrates empirically the mechanism of dissolution of naturally occurring U minerals in reduced brines and describes a geological case where this appears to have happened. (author)

  12. Quality colonoscopy and risk of interval cancer in Lynch syndrome

    NARCIS (Netherlands)

    Haanstra, J. F.; Vasen, H. F. A.; Sanduleanu, S.; van der Wouden, E. J.; Koornstra, J. J.; Kleibeuker, J. H.; Cappel, W. H. de Vos Tot Nederveen

    2013-01-01

    Despite colonoscopic surveillance, Lynch syndrome patients develop colorectal cancer (CRC). Identification of modifiable factors has the potential to improve outcome of surveillance. The aims of this study were to determine (1) characteristics of patients with CRC, (2) endoscopic and histological

  13. Physical activity and the risk of colorectal cancer in Lynch syndrome.

    Science.gov (United States)

    Dashti, S Ghazaleh; Win, Aung Ko; Hardikar, Sheetal S; Glombicki, Stephen E; Mallenahalli, Sheila; Thirumurthi, Selvi; Peterson, Susan K; You, Y Nancy; Buchanan, Daniel D; Figueiredo, Jane C; Campbell, Peter T; Gallinger, Steven; Newcomb, Polly A; Potter, John D; Lindor, Noralane M; Le Marchand, Loic; Haile, Robert W; Hopper, John L; Jenkins, Mark A; Basen-Engquist, Karen M; Lynch, Patrick M; Pande, Mala

    2018-06-14

    Greater physical activity is associated with a decrease in risk of colorectal cancer for the general population; however, little is known about its relationship with colorectal cancer risk for people with Lynch syndrome, carriers of inherited pathogenic mutations in genes affecting DNA mismatch repair (MMR). We studied a cohort of 2,042 MMR gene mutations carriers (n=807, diagnosed with colorectal cancer), from the Colon Cancer Family Registry. Self-reported physical activity in three age-periods (20-29, 30-49, and ≥50 years) was summarized as average metabolic equivalent of task hours per week (MET-h/week) during the age-period of cancer diagnosis or censoring (near-term exposure), and across all age-periods preceding cancer diagnosis or censoring (long-term exposure). Weighted Cox regression was used to estimate the hazard ratio (HR) and 95% confidence intervals (CI) for the association between physical activity and colorectal cancer risk. Near-term physical activity was associated with a small reduction in the risk of colorectal cancer (HR ≥35 vs. Lynch syndrome, however, further confirmation is warranted. The potential modifying effect of physical activity on colorectal cancer risk for people with Lynch syndrome could be useful for risk prediction and support counseling advice for lifestyle modification to reduce cancer risk. This article is protected by copyright. All rights reserved. © 2018 UICC.

  14. Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome.

    Science.gov (United States)

    Medina-Arana, V; Delgado, L; González, L; Bravo, A; Díaz, H; Salido, E; Riverol, D; González-Aguilera, J J; Fernández-Peralta, A M

    2011-06-01

    Lynch syndrome (LS) is an autosomal dominant condition that predisposes to colorectal cancer and specific other tumors. Extracolonic tumors occur mainly in the endometrium, stomach, ovary, small intestine and urinary tract. The presence of rare tumors in patients belonging to families who have Lynch syndrome is always interesting, because the question arises whether these tumors should be considered as a coincidence or are related with the syndrome. In this last case, they are also the result of the defect in the mismatch repair system, opening the possibility of extending the tumor spectrum associated with the syndrome. Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. We analyzed the adrenocortical tumour for microsatellite instability (MSI), LOH and the presence of the germline c.2063T>G (M688R) mutation. The adrenal cortical carcinoma showed the MSH2 mutation, loss of heterozygosity of the normal allele in the MSH2 gene and loss of immunohistochemical expression for MSH2 protein, but no microsatellite instability. Additionally, the adrenal cortical carcinoma did not harbour a TP53 mutation. The molecular study indicates that this adrenal cortical cancer is probably due to the mismatch repair defect.

  15. Pain evaluation during gynaecological surveillance in women with Lynch syndrome

    NARCIS (Netherlands)

    Helder-Woolderink, Jorien; de Bock, Geertruida; Hollema, Harry; van Oven, Magda; Mourits, Marian

    To evaluate perceived pain during repetitive annual endometrial sampling at gynaecologic surveillance in asymptomatic women with Lynch syndrome (LS) over time and in addition to symptomatic women without LS, undergoing single endometrial sampling. In this prospective study, 52 women with LS or first

  16. Pathological assessment of mismatch repair gene variants in Lynch syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D; Royer-Pokora, Brigitte

    2012-01-01

    Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes and is the most prevalent hereditary colorectal cancer syndrome. A significant proportion of variants identified in MMR and other common cancer susceptibility genes are missense or noncoding changes whose...

  17. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen

    2011-01-01

    . We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... total scores, indicating a greater impact on self-concept, were reported by females and by individuals with experience from cancer in close relatives, whereas individuals with less formal education scored significantly higher on the stigma and vulnerability subscale. Scores in the upper quartile were...... more often reported by women (odds ratio 1.8) and by individuals with less education (OR 1.8). This study provides the first extended use of the Lynch syndrome self-concept scale and suggests that the majority of the Danish mutation carriers adapt well to the situation, though knowledge about...

  18. Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

    Science.gov (United States)

    Haraldsdottir, Sigurdis; Rafnar, Thorunn; Frankel, Wendy L.; Einarsdottir, Sylvia; Sigurdsson, Asgeir; Hampel, Heather; Snaebjornsson, Petur; Masson, Gisli; Weng, Daniel; Arngrimsson, Reynir; Kehr, Birte; Yilmaz, Ahmet; Haraldsson, Stefan; Sulem, Patrick; Stefansson, Tryggvi; Shields, Peter G.; Sigurdsson, Fridbjorn; Bekaii-Saab, Tanios; Moller, Pall H.; Steinarsdottir, Margret; Alexiusdottir, Kristin; Hitchins, Megan; Pritchard, Colin C.; de la Chapelle, Albert; Jonasson, Jon G.; Goldberg, Richard M.; Stefansson, Kari

    2017-01-01

    Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000–2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry. Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethylation or mutations in the mismatch repair genes. The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk. We find thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk. We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations. PMID:28466842

  19. OUT Success Stories: Chemical Treatments for Geothermal Brines

    International Nuclear Information System (INIS)

    Burr, R.

    2000-01-01

    DOE research helped develop the large, untapped geothermal resource beneath the Salton Sea in California's Imperial Valley. The very hot brines under high pressure make them excellent for electric power production. The brines are very corrosive and contain high concentrations of dissolved silica. DOE worked with San Diego Gas and Electric Company to find a solution to the silica-scaling problem. This innovative brine treatment eliminated scaling and made possible the development of the Salton Sea geothermal resource

  20. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.

    Science.gov (United States)

    Clendenning, M; Senter, L; Hampel, H; Robinson, K Lagerstedt; Sun, S; Buchanan, D; Walsh, M D; Nilbert, M; Green, J; Potter, J; Lindblom, A; de la Chapelle, A

    2008-06-01

    When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (PMS2. This disparity is primarily due to complications in the study of this gene caused by interference from pseudogene sequences. Using a recently developed method for detecting PMS2 specific mutations, we have screened 99 patients who are likely candidates for PMS2 mutations based on immunohistochemical analysis. We have identified a frequently occurring frame-shift mutation (c.736_741del6ins11) in 12 ostensibly unrelated Lynch syndrome patients (20% of patients we have identified with a deleterious mutation in PMS2, n = 61). These individuals all display the rare allele (population frequency 10 000 carriers of this mutation in the USA alone. The identification of both the mutation and the common haplotype in one Swedish control sample (n = 225), along with evidence that Lynch syndrome associated cancers are rarer than expected in the probands' families, would suggest that this is a prevalent mutation with reduced penetrance.

  1. Freshwater and Saline Loads of Dissolved Inorganic Nitrogen to Hood Canal and Lynch Cove, Western Washington

    Science.gov (United States)

    Paulson, Anthony J.; Konrad, Christopher P.; Frans, Lonna M.; Noble, Marlene; Kendall, Carol; Josberger, Edward G.; Huffman, Raegan L.; Olsen, Theresa D.

    2006-01-01

    Hood Canal is a long (110 kilometers), deep (175 meters) and narrow (2 to 4 kilometers wide) fjord of Puget Sound in western Washington. The stratification of a less dense, fresh upper layer of the water column causes the cold, saltier lower layer of the water column to be isolated from the atmosphere in the late summer and autumn, which limits reaeration of the lower layer. In the upper layer of Hood Canal, the production of organic matter that settles and consumes dissolved oxygen in the lower layer appears to be limited by the load of dissolved inorganic nitrogen (DIN): nitrate, nitrite, and ammonia. Freshwater and saline loads of DIN to Hood Canal were estimated from available historical data. The freshwater load of DIN to the upper layer of Hood Canal, which could be taken up by phytoplankton, came mostly from surface and ground water from subbasins, which accounts for 92 percent of total load of DIN to the upper layer of Hood Canal. Although DIN in rain falling on land surfaces amounts to about one-half of the DIN entering Hood Canal from subbasins, rain falling directly on the surface of marine waters contributed only 4 percent of the load to the upper layer. Point-source discharges and subsurface flow from shallow shoreline septic systems contributed less than 4 percent of the DIN load to the upper layer. DIN in saline water flowing over the sill into Hood Canal from Admiralty Inlet was at least 17 times the total load to the upper layer of Hood Canal. In September and October 2004, field data were collected to estimate DIN loads to Lynch Cove - the most inland marine waters of Hood Canal that routinely contain low dissolved-oxygen waters. Based on measured streamflow and DIN concentrations, surface discharge was estimated to have contributed about one-fourth of DIN loads to the upper layer of Lynch Cove. Ground-water flow from subbasins was estimated to have contributed about one-half of total DIN loads to the upper layer. In autumn 2004, the relative

  2. Elisa Alicia Lynch: a Dama de Aço do Paraguai * Elisa Alicia Lynch: the Steel ‘S Lady of Paraguay

    OpenAIRE

    Frota, Luciara Silveira de Aragão e

    2015-01-01

    Este trabalho mostra uma nova visão da irlandesa Elisa Alicia Lynch, longe da figura de prostituta manipuladora que incitou o Marechal Solano López no começo da Guerra do Paraguai. Dentro de uma corrente revisionista histórica, apoiada em Marc Bloch, propõe uma nova análise de seu papel na vida de Solano López e do Paraguai, comentando a literatura sobre o assunto.

  3. Effect of iron cation on geochemical trapping of CO2 in brine

    Science.gov (United States)

    Liu, Qi; Maroto-Valer, Mercedes

    2014-05-01

    Carbon dioxide sequestration using brines has emerged as a promising technology to mitigate the adverse impacts of climate change due to its large storage capacity and favorable chemistries. However, the permanent storage (mineral trapping) of CO2 in brines takes significantly long periods of time as the formation and precipitation of carbonates is very slow .[1]. The main parameters reported to effect on mineral trapping of CO2 sequestration in brines are brine composition, brine pH, system temperature and pressure.[2, 3]. It is suggested that the precipitation of mineral carbonates is mostly dependent on brine pH. Previous studies by the authors concluded that iron in natural brines causes pH instability, but it was not ascertained whether ferric iron or ferrous iron caused pH instability .[4]. Accordingly, the aim of this project is to study synthetic brines mimicking the major ions found in natural brines and including different concentrations of ferric and ferrous iron. Three brines were prepared, as follows: Brine 1 was prepared with ferric Fe3+ iron, Brine 2 prepared with ferrous Fe2+ iron and Brine 3 prepared with no iron. A series of pH stability studies and carbonation reactions were conducted using the above three brines. It is concluded that the ferrous iron causes pH instability, while ferric iron might promote carbonate precipitation. .1. Garcia, S., et al., Sequestration of non-pure carbon dioxide streams in iron oxyhydroxide-containing saline repositories. International Journal of Greenhouse Gas Control, 2012. 7: p. 89-97. 2. Liu, Q. and M.M. Maroto-Valer, Investigation of the pH effect of a typical host rock and buffer solution on CO 2 sequestration in synthetic brines. Fuel Processing Technology, 2010. 91(10): p. 1321-1329. 3. Liu, Q. and M.M. MarotoValer, Parameters affecting mineral trapping of CO2 sequestration in brines. Greenhouse Gases: Science and Technology, 2011. 1(3): p. 211-222. 4. Druckenmiller, M.L. and M.M. Maroto-Valer, Carbon

  4. Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review.

    Science.gov (United States)

    Yokoyama, Takanori; Takehara, Kazuhiro; Sugimoto, Nao; Kaneko, Keika; Fujimoto, Etsuko; Okazawa-Sakai, Mika; Okame, Shinichi; Shiroyama, Yuko; Yokoyama, Takashi; Teramoto, Norihiro; Ohsumi, Shozo; Saito, Shinya; Imai, Kazuho; Sugano, Kokichi

    2018-05-21

    Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer patients. When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer. Here we report a woman who developed endometrial cancer at the age of 49 years. She had a family history of colorectal cancer (first-degree relative aged 52 years) and stomach cancer (second-degree relative with the age of onset unknown). No other family history was present, and she failed to meet the Amsterdam II criteria for the diagnosis of Lynch syndrome. Losses of MLH1 and PMS2, but not MSH2 and MSH6, proteins were observed by IHC in endometrial cancer tissues. Because MLH1 promoter hypermethylation was detected in endometrial cancer tissue samples, the epigenetic silencing of MLH1 was suspected as the cause of the protein loss. However, because of the early onset of endometrial cancer and the positive family history, a diagnosis of Lynch syndrome was also suspected. Therefore, we provided her with genetic counseling. After obtaining her consent, MLH1 promoter methylation testing and genetic testing of peripheral blood were performed. MLH1 promoter methylation was not observed in peripheral blood. However, genetic testing revealed a large deletion of exon 5 in MLH1; thus, we diagnosed the presence of Lynch syndrome. Both MLH1 germline mutation and MLH1 promoter hypermethylation may be observed in endometrial cancer. Therefore, even if MLH1 promoter hypermethylation is detected, a diagnosis of Lynch syndrome cannot be excluded.

  5. Small bowel endoscopy in familial adenomatous polyposis and Lynch syndrome

    NARCIS (Netherlands)

    Koornstra, Jan Jacob

    Patients with familial adenomatous polyposis (FAP) and patients with Lynch syndrome have an increased risk of developing small intestinal neoplasia. In both conditions, the lifetime risk to develop small bowel cancer is estimated to be around 5%. In FAP, this risk is associated with the degree of

  6. Migration rates of brine inclusions in single crystals of NaCl

    International Nuclear Information System (INIS)

    Chou, I.M.

    1982-01-01

    Rock-salt deposits have been considered as a possible medium for the permanent storage of high-level radioactive wastes and spent fuel. Brine inclusions present in natural salt can migrate toward the waste if the temperature and the temperature gradients in the vicinity of the radioactive waste are large enough. This migration is due to the dissolution of salt at the hot side of the salt-brine interface, ion diffusion through the brine droplet, and the precipitation of salt at the cold side of the salt brine interface. In order to quantify the problem, the migration rate of these brine inclusions must be estimated under various repository conditions. This paper estimates migration rates for all-liquid brine inclusions in single crystals of NaCl by utilizing recent data for brines and the model of Anthony and Cline [T.R. Anthony and H.E. Cline, J. Appl. Phys., 42, pp. 3380-387 (1971)]. The predictions are compared with experimentally measured migration rates. 4 figures, 6 tables

  7. Thermal-gradient migration of brine inclusions in salt

    International Nuclear Information System (INIS)

    Yagnik, S.K.

    1982-02-01

    It has been proposed that the high level nuclear waste be buried deep underground in a suitable geologic formation. Natural salt deposits have been under active consideration as one of the geologic formations where a nuclear waste repository may be built in future. The salt deposits, however, are known to contain a small amount (about 0.5 vol.%) of water in the form of brine inclusions which are dispersed throughout the medium. The temperature gradients imposed by the heat generating nuclear waste will mobilize these brine inclusions. It is important to know the rate and the amount of brine accumulating at the waste packages to properly evaluate the performance of a nuclear waste repository. An extensive experimental investigation of the migration velocities of brine inclusions in synthetic single crystals of NaCl and in polycrystalline natural salt crystals has been conducted. The results show that in a salt repository the brine inclusions within a grain would move with the diffusion controlled velocities. The brine reaching a grain boundary may be swept across, if the thermal gradient is high enough. Grain boundaries in polycrystalline rock salt are apparently quite weak and open up due to drilling the hole for a waste canister and to the thermal stresses which accompany the thermal gradient produced by the heat generating waste. The enhanced porosity allows the water reaching the grain boundary to escape by a vapor transport process

  8. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

    Science.gov (United States)

    Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

    2014-01-01

    Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

  9. Genetic anticipation in Swedish Lynch syndrome families

    OpenAIRE

    von Salomé, Jenny; Boonstra, Philip S.; Karimi, Masoud; Silander, Gustav; Stenmark-Askmalm, Marie; Gebre-Medhin, Samuel; Aravidis, Christos; Nilbert, Mef; Lindblom, Annika; Lagerstedt-Robinson, Kristina

    2017-01-01

    Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in successive generations, ha...

  10. Assessing Genetic Variants of Uncertain Significance: The Example of Lynch Syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D.

    2014-01-01

    cancer syndrome, Lynch syndrome, is used as an example. This challenge is addressed by illustrating the importance of combining genetic and functional data in future strategies to assess VUS. The proposed strategies combine clinical genetic, analytical, functional and in silico approaches....

  11. Barriers and Motivators for Referral of Patients with Suspected Lynch Syndrome to Cancer Genetic Services: A Qualitative Study

    Science.gov (United States)

    Tan, Yen Y.; Fitzgerald, Lisa J.

    2014-01-01

    This article explores the views of general practitioners and specialists on their referral of patients with suspected Lynch syndrome to cancer genetic services. Using a purposive maximum variation sampling strategy, we conducted semi-structured interviews face-to-face with 28 general practitioners and specialists in public or private hospitals and specialist clinics between March and August 2011. General practitioners and specialists were recruited in a major metropolitan area in Australia. Interview transcripts were reviewed by two independent researchers, and thematic analysis was performed using NVivo10 software. The main barriers and motivators identified were: (1) clinician-related (e.g., familiarity with Lynch syndrome and family history knowledge); (2) patient-related (e.g., patients’ interests and personal experience with cancer); and (3) organizational-related (e.g., access to services, guidelines and referral pathway). Referral of patients with suspected Lynch syndrome to cancer genetic services is motivated and hindered by a range of individual, interpersonal and organizational factors. In order to improve the care and quality of life of patients and family with suspected Lynch syndrome, further research is needed to develop supportive tools for clinicians. PMID:25562140

  12. Barriers and Motivators for Referral of Patients with Suspected Lynch Syndrome to Cancer Genetic Services: A Qualitative Study

    Directory of Open Access Journals (Sweden)

    Yen Y. Tan

    2014-02-01

    Full Text Available This article explores the views of general practitioners and specialists on their referral of patients with suspected Lynch syndrome to cancer genetic services. Using a purposive maximum variation sampling strategy, we conducted semi-structured interviews face-to-face with 28 general practitioners and specialists in public or private hospitals and specialist clinics between March and August 2011. General practitioners and specialists were recruited in a major metropolitan area in Australia. Interview transcripts were reviewed by two independent researchers, and thematic analysis was performed using NVivo10 software. The main barriers and motivators identified were: (1 clinician-related (e.g., familiarity with Lynch syndrome and family history knowledge; (2 patient-related (e.g., patients’ interests and personal experience with cancer; and (3 organizational-related (e.g., access to services, guidelines and referral pathway. Referral of patients with suspected Lynch syndrome to cancer genetic services is motivated and hindered by a range of individual, interpersonal and organizational factors. In order to improve the care and quality of life of patients and family with suspected Lynch syndrome, further research is needed to develop supportive tools for clinicians.

  13. Serum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with Lynch syndrome.

    Science.gov (United States)

    Reuschenbach, Miriam; Kloor, Matthias; Morak, Monika; Wentzensen, Nicolas; Germann, Anja; Garbe, Yvette; Tariverdian, Mirjam; Findeisen, Peter; Neumaier, Michael; Holinski-Feder, Elke; von Knebel Doeberitz, Magnus

    2010-06-01

    High level microsatellite instability (MSI-H) occurs in about 15% of colorectal cancer (CRCs), either as sporadic cancers or in the context of hereditary non-polyposis cancer or Lynch syndrome. In MSI-H CRC, mismatch repair deficiency leads to insertion/deletion mutations at coding microsatellites and thus to the translation of frameshift peptides (FSPs). FSPs are potent inductors of T cell responses in vitro and in vivo. The present study aims at the identification of FSP-specific humoral immune responses in MSI-H CRC and Lynch syndrome. Sera from patients with history of MSI-H CRC (n = 69), healthy Lynch syndrome mutation carriers (n = 31) and healthy controls (n = 52) were analyzed for antibodies against FSPs using peptide ELISA. Reactivities were measured against FSPs derived from genes frequently mutated in MSI-H CRCs, AIM2, TGFBR2, CASP5, TAF1B, ZNF294, and MARCKS. Antibody reactivity against FSPs was significantly higher in MSI-H CRC patients than in healthy controls (P = 0.036, Mann-Whitney) and highest in patients with shortest interval between tumor resection and serum sampling. Humoral immune responses in patients were most frequently directed against FSPs derived from mutated TAF1B (11.6%, 8/69) and TGFBR2 (10.1%, 7/69). Low level FSP-specific antibodies were also detected in healthy mutation carriers. Our results show that antibody responses against FSPs are detectable in MSI-H CRC patients and healthy Lynch syndrome mutation carriers. Based on the high number of defined FSP antigens, measuring FSP-specific humoral immune responses is a highly promising tool for future diagnostic application in MSI-H cancer patients.

  14. Serum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with Lynch syndrome

    Science.gov (United States)

    Reuschenbach, Miriam; Kloor, Matthias; Morak, Monika; Wentzensen, Nicolas; Germann, Anja; Garbe, Yvette; Tariverdian, Mirjam; Findeisen, Peter; Neumaier, Michael; Holinski-Feder, Elke; Doeberitz, Magnus von Knebel

    2014-01-01

    High level microsatellite instability (MSI-H) occurs in about 15% of colorectal cancer (CRCs), either as sporadic cancers or in the context of hereditary non-polyposis cancer (HNPCC) or Lynch syndrome. In MSI-H CRC, mismatch repair deficiency leads to insertion/deletion mutations at coding microsatellites (cMS) and thus to the translation of frameshift peptides (FSPs). FSPs are potent inductors of T cell responses in vitro and in vivo. The present study aims at the identification of FSP-specific humoral immune responses in MSI-H CRC and Lynch syndrome. Sera from patients with history of MSI-H CRC (n=69), healthy Lynch syndrome mutation carriers (n=31) and healthy controls (n=52) were analyzed for antibodies against FSPs using peptide ELISA. Reactivities were measured against FSPs derived from genes frequently mutated in MSI-H CRCs, AIM2, TGFBR2, CASP5, TAF1B, ZNF294, and MARCKS. Antibody reactivity against FSPs was significantly higher in MSI-H CRC patients than in healthy controls (p=0.036, Mann-Whitney) and highest in patients with shortest interval between tumor resection and serum sampling. Humoral immune responses in patients were most frequently directed against FSPs derived from mutated TAF1B (11.6%, 8/69) and TGFBR2 (10.1%, 7/69). Low level FSP-specific antibodies were also detected in healthy mutation carriers. Our results show that antibody responses against FSPs are detectable in MSI-H CRC patients and healthy Lynch syndrome mutation carriers. Based on the high number of defined FSP antigens, measuring FSP-specific humoral immune responses is a highly promising tool for future diagnostic application in MSI-H cancer patients. PMID:19957108

  15. Revised guidelines for the clinical management of Lynch syndrome (HNPCC)

    DEFF Research Database (Denmark)

    Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja

    2013-01-01

    Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines...

  16. Brine: a computer program to compute brine migration adjacent to a nuclear waste canister in a salt repository

    International Nuclear Information System (INIS)

    Duckworth, G.D.; Fuller, M.E.

    1980-01-01

    This report presents a mathematical model used to predict brine migration toward a nuclear waste canister in a bedded salt repository. The mathematical model is implemented in a computer program called BRINE. The program is written in FORTRAN and executes in the batch mode on a CDC 7600. A description of the program input requirements and output available is included. Samples of input and output are given

  17. Novel Implications in Molecular Diagnosis of Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Raffaella Liccardo

    2017-01-01

    Full Text Available About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP and Lynch syndrome (LS. In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives.

  18. Oil exudation and histological structures of duck egg yolks during brining.

    Science.gov (United States)

    Lai, K M; Chung, W H; Jao, C L; Hsu, K C

    2010-04-01

    Changes in oil exudation and histological structures of salted duck egg yolks during brining up to 5 wk were investigated. During brining, the salt contents of albumen, exterior yolk (hardened portion), and interior yolk (soft or liquid portion) gradually increased accompanied by slight decreases in moisture content. The hardening ratio of salted egg yolks increased rapidly to about 60% during the first week of brining and then reached 100% at the end of brining. After brining, part of the lipids in salted egg yolk became free due to the structural changes of low-density lipoprotein induced by dehydration and increase of salt content, and more free lipids in salted egg yolk were released after the cooking process. With the brining time increased up to 5 wk, the outer region of the cooked salted yolk gradually changed into dark brown, brown, orange, and then dark brown, whereas the center region changed into light yellow, yellow, dark yellow, and then yellow again. The microstructures of cooked salted egg yolks showed that the yolk spheres in the outer and middle regions retained their original shape, with some shrinking and being packed more loosely when brining time increased, and the exuded oil filled the space between the spheres. Furthermore, the yolk spheres in the center region transformed to a round shape but still showed granulation after 4 wk of brining, whereas they were mostly disrupted after 2 to 5 wk of brining. One of the most important characteristics of cooked salted egg yolks, gritty texture, contributed to oil exudation and granulated yolk spheres were observed at the brining time of 4 wk.

  19. Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.

    Science.gov (United States)

    Yamaguchi, Tatsuro; Furukawa, Yoichi; Nakamura, Yusuke; Matsubara, Nagahide; Ishikawa, Hideki; Arai, Masami; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Moriya, Yoshihiro; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

    2015-02-01

    The characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer type X. The frequencies of gastric and extracolonic Lynch syndrome-associated cancers were lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that the median age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  20. Chemistry of glass corrosion in high saline brines

    International Nuclear Information System (INIS)

    Grambow, B.; Mueller, R.

    1990-01-01

    Corrosion data obtained in laboratory tests can be used for the performance assessment of nuclear waste glasses in a repository if the data are quantitatively described in the frame of a geochemical model. Experimental data were obtained for conventional pH values corrected for liquid junction, amorphous silica solubility and glass corrosion in concentrated salt brines. The data were interpreted with a geochemical model. The brine chemistry was described with the Pitzer formalism using a data base which allows calculation of brine compositions in equilibrium with salt minerals at temperatures up to 200C. In MgCl 2 dominated brines Mg silicates form and due to the consumption of Mg the pH decreases with proceeding reaction. A constant pH (about 4) and composition of alteration products is achieved, when the alkali release from the glass balances the Mg consumption. The low pH results in high release of rare earth elements REE (rare earth elements) and U from the glass. In the NaCl dominated brine MgCl 2 becomes exhausted by Mg silicate formation. As long as there is still Mg left in solution the pH decreases. After exhaustion of Mg the pH rises with the alkali release from the glass and analcime is formed

  1. Searching for brine on Mars using Raman spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Fischer, E.

    2016-07-01

    In the last few years, water ice and perchlorate salts capable of melting this ice and producing liquid solutions have been discovered at the surface and shallow subsurface of Mars. In addition to via melting of ice, perchlorate salts may also form liquid solutions by absorbing water vapor when the relative humidity is above a certain threshold in a process known as deliquescence. Formed either by melting or deliquescence, liquid solutions (brine) are the most likely way of liquid water activity on the Martian surface and in the shallow subsurface and are therefore important to understand the habitability of Mars. Using Raman spectroscopy, we provide reference spectra of various mixing states of liquid water, water ice and calcium perchlorate, all of which can occur during brine formation. We focus on the perchlorate symmetric stretching band and the O-H stretching vibrational band to distinguish brine from crystalline salt and water ice. We show that perchlorate brines can be identified by analyzing the peaks and their widths in the decomposed Raman spectra of the investigated samples. This serves as an important reference for future in-situ Raman spectrometers on Mars, such as those on the ExoMars and Mars 2020 rovers and can aid in the detection of brine formation on Mars. (Author)

  2. The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors

    Science.gov (United States)

    Medeiros, Fabiola; Lindor, Noralane M.; Couch, Fergus J.; Highsmith, W. Edward

    2013-01-01

    Missense variants discovered during sequencing of cancer susceptibility genes can be problematic for clinical interpretation. MLH1 K618A, which results from a 2-bp alteration (AAG→GCG) leading to a substitution of lysine to alanine in codon 618, has variously been interpreted as a pathogenic mutation, a variant of unknown significance, and a benign polymorphism. We evaluated the role of MLH1 K618A in predisposition to cancer by genotyping 1512 control subjects to assess its frequency in the general population. We also reviewed the literature concerning MLH1 K618A in families with colorectal cancer. The measured allele frequency of the K618A variant was 0.40%, which is remarkably close to the 0.44% summarized from 2491 control subjects in the literature. K618A was over-represented in families with suspected Lynch syndrome. In 1366 families, the allele frequency was 0.88% (OR = 2.1, 95% CI = 1.3 to 3.5; P = 0.006). In studies of sporadic cancers of the type associated with Lynch syndrome, K618A was over-represented in 1742 cases (allele frequency of 0.83) (OR = 2.0, 95% CI = 1.2 to 3.2; P = 0.008). We conclude that MLH1 K618A is not a fully penetrant Lynch syndrome mutation, although it is not without effect, appearing to increase the risk of Lynch syndrome-associated tumors approximately twofold. Our systematic assessment approach may be useful for variants in other genes. PMID:22426235

  3. Space and Industrial Brine Drying Technologies

    Science.gov (United States)

    Jones, Harry W.; Wisniewski, Richard S.; Flynn, Michael; Shaw, Hali

    2014-01-01

    This survey describes brine drying technologies that have been developed for use in space and industry. NASA has long considered developing a brine drying system for the International Space Station (ISS). Possible processes include conduction drying in many forms, spray drying, distillation, freezing and freeze drying, membrane filtration, and electrical processes. Commercial processes use similar technologies. Some proposed space systems combine several approaches. The current most promising candidates for use on the ISS use either conduction drying with membrane filtration or spray drying.

  4. Genetic variants in the cell cycle control pathways contribute to early onset colorectal cancer in Lynch syndrome.

    Science.gov (United States)

    Chen, Jinyun; Etzel, Carol J; Amos, Christopher I; Zhang, Qing; Viscofsky, Nancy; Lindor, Noralane M; Lynch, Patrick M; Frazier, Marsha L

    2009-11-01

    Lynch syndrome is an autosomal dominant syndrome of familial malignancies resulting from germ line mutations in DNA mismatch repair (MMR) genes. Our goal was to take a pathway-based approach to investigate the influence of polymorphisms in cell cycle-related genes on age of onset for Lynch syndrome using a tree model. We evaluated polymorphisms in a panel of cell cycle-related genes (AURKA, CDKN2A, TP53, E2F2, CCND1, TP73, MDM2, IGF1, and CDKN2B) in 220 MMR gene mutation carriers from 129 families. We applied a novel statistical approach, tree modeling (Classification and Regression Tree), to the analysis of data on patients with Lynch syndrome to identify individuals with a higher probability of developing colorectal cancer at an early age and explore the gene-gene interactions between polymorphisms in cell cycle genes. We found that the subgroup with CDKN2A C580T wild-type genotype, IGF1 CA-repeats >or=19, E2F2 variant genotype, AURKA wild-type genotype, and CCND1 variant genotype had the youngest age of onset, with a 45-year median onset age, while the subgroup with CDKN2A C580T wild-type genotype, IGF1 CA-repeats >or=19, E2F2 wild-type genotype, and AURKA variant genotype had the latest median age of onset, which was 70 years. Furthermore, we found evidence of a possible gene-gene interaction between E2F2 and AURKA genes related to CRC age of onset. Polymorphisms in these cell cycle-related genes work together to modify the age at the onset of CRC in patients with Lynch syndrome. These studies provide an important part of the foundation for development of a model for stratifying age of onset risk among those with Lynch syndrome.

  5. Patient-reported disease knowledge and educational needs in Lynch syndrome: findings of an interactive multidisciplinary patient conference.

    Science.gov (United States)

    Bannon, Sarah A; Mork, Maureen; Vilar, Eduardo; Peterson, Susan K; Lu, Karen; Lynch, Patrick M; Rodriguez-Bigas, Miguel A; You, Yiqian Nancy

    2014-02-05

    Patients with Lynch Syndrome, the most common hereditary colorectal cancer syndrome, benefit from genetic education and family counseling regarding diagnostic testing and cancer surveillance/prevention recommendations. Although genetic counseling is currently the most common venue where such education and counseling takes place, little is known about the level of disease knowledge and education needs as directly reported by patients and families with Lynch Syndrome. Furthermore, experiences with forums for larger-scale knowledge transfer have been limited in the current literature. We conducted a one-day interactive multidisciplinary patient conference, designed to complement individual genetic counseling for updating disease knowledge, supportive networking and needs assessment among Lynch Syndrome patients and their family members. The patient conference was designed utilizing the conceptual framework of action research. Paired pre- and post-conference surveys were administered to 44 conference participants anonymously to assess patient-reported disease knowledge and education needs. A multidisciplinary team of expert providers utilized a variety of educational formats during the one-day conference. Four main focus areas were: genetic testing, surveillance/prevention, living with Lynch Syndrome, and update on research. Thirty-two participants (73%) completed the pre-conference, and 28 (64%) participants completed the post-conference surveys. Nineteen respondents were affected and the remaining were unaffected. The scores of the disease-knowledge items significantly increased from 84% pre- to 92% post-conference (p = 0.012). Patients reported a high level of satisfaction and identified further knowledge needs in nutrition (71%), surveillance/prevention options (71%), support groups (36%), cancer risk assessment (32%), active role in medical care (32%), and research opportunities (5%). Our experience with a dedicated patient education conference focused on

  6. Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.

    Science.gov (United States)

    Hesson, Luke B; Packham, Deborah; Kwok, Chau-To; Nunez, Andrea C; Ng, Benedict; Schmidt, Christa; Fields, Michael; Wong, Jason W H; Sloane, Mathew A; Ward, Robyn L

    2015-06-01

    Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. We investigated whether these variants were associated with other pathogenic alterations using targeted high-throughput sequencing of the MLH1 locus. We also determined their relationship to gene expression and epigenetic alterations at the promoter. Sequencing revealed that the c.-28A>G and c.-7C>T variants were the only potentially pathogenic alterations within the MLH1 gene. In both individuals, the levels of transcription from the variant allele were reduced to 50% compared with the wild-type allele. Partial loss of expression occurred in the absence of constitutional epigenetic alterations within the MLH1 promoter. We propose that these variants may be pathogenic due to constitutional partial loss of MLH1 expression, and that this may be associated with intermediate penetrance of a Lynch syndrome phenotype. Our findings provide further evidence of the potential importance of noncoding variants in the MLH1 5'UTR in the pathogenesis of Lynch syndrome. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

  7. Pressurized brines in continental Antarctica as a possible analogue of Mars

    OpenAIRE

    Forte, Emanuele; Dalle Fratte, Michele; Azzaro, Maurizio; Guglielmin, Mauro

    2016-01-01

    Interest in brines in extreme and cold environments has recently increased after they have been found on Mars. Those brines can be potential new subsurface habitats for peculiar ecosystems. In the McMurdo Dry Valleys of the Antarctic, the best analogue for Mars conditions, only a few cases of brines have been identified in some perennially frozen lakes and in one case in an underground aquifer. Here, we present the occurrence of pressurized brines in a shallow perennially ice-covered lake sou...

  8. Calcium extraction from brine water and seawater using oxalic acid

    Science.gov (United States)

    Natasha, Nadia Chrisayu; Lalasari, Latifa Hanum

    2017-01-01

    Calcium can be extracted not only from rocks but also from natural liquor such as seawater and brine water. In order to extract the calcium from seawater and brine water, oxalic acid was used in this research. Effect of variations of the volume of the oxalic acid at a constant concentration in seawater and brine water to produce calcium was investigated. The concentration of oxalic acid was 100 g/l and the variations of its volume were 2 ml, 4 ml, 6 ml, 8 ml, 10 ml, 20 ml, 30 ml, 40 ml, and 50 ml. The used seawater and brine water were firstly evaporated from 100 ml into 50 ml and then the oxalic acid was added into them with mixing to produce the calcium precipitates. The precipitates were analyzed by X-ray diffraction (XRD) and scanning electron microscope (SEM) and the filtrates were analyzed by inductively coupled plasma-optical emission spectrometry (ICP-OES). The SEM analysis showed that the precipitates from brine water were consisted of only calcium compound while from seawater sodium one was also found along with calcium compound. The XRD analysis showed that the calcium was present in the form of calcium oxalate for both seawater and brine water. The ICP-OES analysis of the filtrate from seawater precipitation showed that the its calcium content was decreased from 826.20 ppm to 0.04 ppm while from brine water, it decreased from 170.06 ppm to 1.96 ppm. These results showed that both seawater and brine water have the potential to be a raw material for calcium production.

  9. The Failure of Lehman Brothers and Merril Lynch: A Lesson for the ...

    African Journals Online (AJOL)

    DR Nneka

    the United State America treasury securities market. Ahimie (2008) ... Thus, the above school of thought considered a bank failure as not when it ceases .... Lynch had further confirmed the historical fact that, no bank or financial institution is.

  10. Pressurized brines in continental Antarctica as a possible analogue of Mars.

    Science.gov (United States)

    Forte, Emanuele; Dalle Fratte, Michele; Azzaro, Maurizio; Guglielmin, Mauro

    2016-09-12

    Interest in brines in extreme and cold environments has recently increased after they have been found on Mars. Those brines can be potential new subsurface habitats for peculiar ecosystems. In the McMurdo Dry Valleys of the Antarctic, the best analogue for Mars conditions, only a few cases of brines have been identified in some perennially frozen lakes and in one case in an underground aquifer. Here, we present the occurrence of pressurized brines in a shallow perennially ice-covered lake south of 70°S in an ice-free area of Victoria Land, Antarctica. For the first time, we also imaged, by means of ground penetrating radar data, the existence of a pingo-like-feature (PLF) formed by the extrusion of brines, which has also been confirmed by borehole evidence. Those brines are fed by an underground talik external to the lake basin, enhancing the possibility of unexploited ecosystems that could find an analogue in Martian environments.

  11. Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

    Directory of Open Access Journals (Sweden)

    Stulp Rein P

    2008-02-01

    Full Text Available Abstract Lynch syndrome (HNPCC is a dominantly inherited disorder characterized by germline defects in DNA mismatch repair (MMR genes and the development of a variety of cancers, predominantly colorectal and endometrial. We present a 44-year-old woman who was shown to carry the truncating MSH2 gene mutation that had previously been identified in her family. Recently, she had been diagnosed with an undifferentiated carcinoma of the thyroid and an adenoma of her coecum. Although the thyroid carcinoma was not MSI-high (1 out of 5 microsatellites instable, it did show complete loss of immunohistochemical expression for the MSH2 protein, suggesting that this tumour was not coincidental. Although the risks for some tumour types, including breast cancer, soft tissue sarcoma and prostate cancer, are not significantly increased in Lynch syndrome, MMR deficiency in the presence of a corresponding germline defect has been demonstrated in incidental cases of a growing range of tumour types, which is reviewed in this paper. Interestingly, the MSH2-associated tumour spectrum appears to be wider than that of MLH1 and generally the risk for most extra-colonic cancers appears to be higher for MSH2 than for MLH1 mutation carriers. Together with a previously reported case, our findings show that anaplastic thyroid carcinoma can develop in the setting of Lynch syndrome. Uncommon Lynch syndrome-associated tumour types might be useful in the genetic analysis of a Lynch syndrome suspected family if samples from typical Lynch syndrome tumours are unavailable.

  12. Photocatalytic reduction of nitrate using titanium dioxide for regeneration of ion exchange brine.

    Science.gov (United States)

    Yang, Ting; Doudrick, Kyle; Westerhoff, Paul

    2013-03-01

    Nitrate is often removed from groundwater by ion exchange (IX) before its use as drinking water. Accumulation of nitrate in IX brine reduces the efficiency of IX regeneration and the useful life of the regeneration brine. For the first time, we present a strategy to photocatalytically reduce nitrate in IX brine, thereby extending the use of the brine. Titanium dioxide (Evonik P90), acting as photocatalyst, reduced nitrate effectively in both synthetic brines and sulfate-removed IX brine when formic acid (FA) was used as the hole scavenger (i.e., electron donor) and the initial FA to nitrate molar ratio (IFNR) was 5.6. Increasing the NaCl level in the synthetic brine slowed the nitrate reduction rate without affecting by-product selectivity of ammonium and gaseous N species (e.g., N(2), N(2)O). In a non-modified IX brine, nitrate removal was greatly inhibited owing to the presence of sulfate, which competed with nitrate for active surface sites on P90 and induced aggregation of P90 nanoparticles. After removing sulfate through barium sulfate precipitation, nitrate was effectively reduced; approximately 3.6 × 10(24) photons were required to reduce each mole of nitrate to 83% N Gases and 17% NH(4)(+). To make optimum use of FA and control the residual FA level in treated brine, the IFNR was varied. High IFNRs (e.g., 4, 5.6) were found to be more efficient for nitrate reduction but left higher residual FA in brine. IX column tests were performed to investigate the impact of residual FA for brine reuse. The residual FA in the brine did not significantly affect the nitrate removal capacity of IX resins, and formate contamination of treated water could be eliminated by rinsing with one bed volume of fresh brine. Copyright © 2012 Elsevier Ltd. All rights reserved.

  13. Surveillance colonoscopy practice in Lynch syndrome in the Netherlands : A nationwide survey

    NARCIS (Netherlands)

    Koornstra, Jan J.; Vasen, Hans Fa

    2007-01-01

    Lynch syndrome, or hereditary nonpolyposis colorectal cancer (HNPCC), is the most common genetic disorder predisposing to colorectal cancer. As regular colonoscopic surveillance has been shown to reduce the incidence of colorectal cancer, this strategy is recommended worldwide. Recently, several

  14. Community Practice Implementation of a Self-administered Version of PREMM1,2,6 to Assess Risk for Lynch Syndrome.

    Science.gov (United States)

    Luba, Daniel G; DiSario, James A; Rock, Colleen; Saraiya, Devki; Moyes, Kelsey; Brown, Krystal; Rushton, Kristen; Ogara, Maydeen M; Raphael, Mona; Zimmerman, Dayna; Garrido, Kimmie; Silguero, Evelyn; Nelson, Jonathan; Yurgelun, Matthew B; Kastrinos, Fay; Wenstrup, Richard J; Syngal, Sapna

    2018-01-01

    Lynch syndrome is a genetic disorder that greatly increases risk for colorectal and other cancers, although it is underdiagnosed. Prediction of MLH1, MSH2, and MSH6 (PREMM 1,2,6 ) is a web-based tool that analyzes individuals' personal/family histories of cancer to quantify their likelihood of carrying a germline mutation associated with Lynch syndrome. We investigated the feasibility of systematic risk assessment for Lynch syndrome in a community gastroenterology practice using a patient-completed version of PREMM 1,2,6 . PREMM 1,2,6 was adapted into a computer tablet version designed for self-administration by patients. Individuals presenting to a community gastroenterology office and endoscopy facility in California completed the PREMM 1,2,6 assessment before their visit (n = 3134). The total study duration (8 months) comprised a 2-month initiation period (May 1-June 30, 2013) and a 6-month study period (July 1-December 31, 2013). Genetic counseling and germline analysis for mutations in genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2, and EPCAM) were offered to individuals with PREMM 1,2,6 scores of 5% or higher. Patients and providers completed surveys to evaluate the feasibility and satisfaction with the process. Of the 3134 individuals assessed by PREMM 1,2,6 during the 6-month study period, 177 individuals (5.6%) had scores of 5% or higher. Of these, 146 individuals underwent genetic testing, along with 28 additional participants recruited nonconsecutively during the initiation period. Mutations associated with Lynch syndrome were detected in 3 of the 146 individuals (2.1%) with PREMM 1,2,6 scores of 5% or higher who underwent germline testing, and 3 of the 28 patients (10.7%) recruited during study initiation with PREMM 1,2,6 scores of 5% or higher. Of the participants who underwent genetic analysis, 98.6% stated that they understood the information provided to them. All of the surveyed providers stated that they were satisfied with the

  15. Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.

    Science.gov (United States)

    Cohen, Stacey A; Laurino, Mercy; Bowen, Deborah J; Upton, Melissa P; Pritchard, Colin; Hisama, Fuki; Jarvik, Gail; Fichera, Alessandro; Sjoding, Britta; Bennett, Robin L; Naylor, Lorraine; Jacobson, Angela; Burke, Wylie; Grady, William M

    2016-02-01

    Lynch syndrome confers a hereditary predisposition to colorectal and other cancers. Universal tumor screening (UTS) for Lynch syndrome is recommended by several professional societies, but the implementation can be complex. This article describes the evaluation, process development, and initiation of Lynch syndrome UTS at a tertiary referral cancer center. A multidisciplinary team developed the new process design. Issues in 5 themes were noted: timing, funding, second-opinion patients, result processing, and the role of genetics providers. A committee approach was used to examine each issue for process-improvement development. The issues related to testing were addressed individually for the successful implementation of UTS at the institutional level. In the conventional-care period, 9 of 30 cases (30%) received Lynch syndrome screening, and 4 cases were referred to medical genetics. During the 6 months following the implementation of UTS, 32 of 44 patients (73%) received Lynch syndrome screening. The 13 unscreened patients all had identified reasons for nonscreening (eg, financial limitations). Ten patients were referred to medical genetics, which identified no new cases of Lynch syndrome, but a low-risk adenomatous polyposis coli (APC) variant was detected in 1 individual. The implementation of effective Lynch syndrome UTS can feasibly alter practice at the institutional level. This experience with the assessment and management of issues relevant to the successful implementation of a new clinical care paradigm based on emerging technology has implications for the uptake of advances across molecular oncology into clinical practice, and this is highly relevant in the current era of rapidly evolving genomic technology. © 2015 American Cancer Society.

  16. Dietary patterns and colorectal adenomas in Lynch syndrome: the GEOLynch cohort study

    NARCIS (Netherlands)

    Botma, A.; Vasen, H.F.; Duijnhoven, F.J.B. van; Kleibeuker, J.H.; Nagengast, F.M.; Kampman, E.

    2013-01-01

    BACKGROUND: Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in

  17. Dietary Patterns and Colorectal Adenomas in Lynch Syndrome: The GEOLynch Cohort Study

    NARCIS (Netherlands)

    Botma, A.; Vasen, H.F.; Duijnhoven, van F.J.B.; Kleibeuker, J.H.; Nagengast, F.M.; Kampman, E.

    2013-01-01

    BACKGROUND: Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in

  18. Dietary Patterns and Colorectal Adenomas in Lynch Syndrome The GEOLynch Cohort Study

    NARCIS (Netherlands)

    Botma, Akke; Vasen, Hans F. A.; van Duijnhoven, Franzel J. B.; Kleibeuker, Jan H.; Nagengast, Fokko M.; Kampman, Ellen

    2013-01-01

    BACKGROUND: Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in

  19. Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families

    DEFF Research Database (Denmark)

    Andersen, S H; Lykke, E; Folker, M B

    2008-01-01

    Whereas the generally accepted carcinogenesis pathway of the microsatellite instabile high (MSI-H) colorectal carcinoma (CRC) involves the traditional adenoma in patients with Lynch syndrome, a serrate pathway involving serrate adenomas (SA) and sessile serrate polyps (SSP) characterize...... the sporadic MSI-H counterpart. Recent studies have, however, challenged such simple one-pathway models, inviting the consideration of alternative, unexpected pathways. Here, the issue as to the possible role of SSP, primarily in the context of Lynch syndrome, but also in subjects from familial CRC families...... (FCF) is addressed. Polyps coded as hyperplastic polyps (HP) from subjects with Lynch syndrome and FCF enrolled in the HNPCC-register at the Hvidovre University Hospital as well as adenomas from this population were retrieved and reviewed for features of SSP. Ninety-eight polyps coded as HP and 41...

  20. Thermal-gradient migration of brine inclusions in salt crystals

    International Nuclear Information System (INIS)

    Yagnik, S.K.

    1982-09-01

    It has been proposed that high-level nuclear waste be disposed in a geologic repository. Natural-salt deposits, which are being considered for this purpose, contain a small volume fraction of water in the form of brine inclusions distributed throughout the salt. Radioactive-decay heating of the nuclear wastes will impose a temperature gradient on the surrounding salt which mobilizes the brine inclusions. Inclusions filled completely with brine migrate up the temperature gradient and eventually accumulate brine near the buried waste forms. The brine may slowly corrode or degrade the waste forms which is undesirable. In this work, thermal gradient migration of both all-liquid and gas-liquid inclusions was experimentally studied in synthetic single crystals of NaCl and KCl using a hot-stage attachment to an optical microscope which was capable of imposing temperature gradients and axial compressive loads on the crystals. The migration velocities of the inclusions were found to be dependent on temperature, temperature gradient, and inclusion shape and size. The velocities were also dictated by the interfacial mass transfer resistance at brine/solid interface. This interfacial resistance depends on the dislocation density in the crystal, which in turn, depends on the axial compressive loading of the crystal. At low axial loads, the dependence between the velocity and temperature gradient is non-linear.At high axial loads, however, the interfacial resistance is reduced and the migration velocity depends linearly on the temperature gradient. All-liquid inclusions filled with mixed brines were also studied. For gas-liquid inclusions, three different gas phases (helium, air and argon) were compared. Migration studies were also conducted on single crystallites of natural salt as well as in polycrystalline natural salt samples. The behavior of the inclusions at large angle grain boundaries was observed. 35 figures, 3 tables

  1. Thermal gradient migration of brine inclusions in salt crystals

    International Nuclear Information System (INIS)

    Yagnik, S.K.

    1982-01-01

    Natural salt deposits, which are being considered for high-level nuclear wastes repositories, contain a small volume fraction of water in the form of brine inclusions distributed throughout the salt. Radioactive decay heating of the nuclear wastes will impose a temperature gradient on the surrounding salt which mobilizes the brine inclusions. Inclusions filled completely with brine (the all-liquid inclusions) migrate up the temperature gradient and eventually accumulate brine near the buried waste forms. The brine may slowly corrode or degrade the waste forms which is undesirable. In the present work, thermal gradient migration of both all-liquid and gas-liquid inclusions was experimentally studied in synthetic single crystals of NaCl and KCl using a hot-stage attachment to an optical microscope which was capable of imposing temperature gradients and axial compressive loads on the crystals. The migration velocities of the inclusions were found to be dependent on temperature, temperature gradient, and inclusion shape and size. The velocities were also dictated by the interfacial mass transfer resistance at brine/solid interface. This interfacial resistance depends on the dislocation density in the crystal, which in turn, depends on the axial compressive loading of the crystal. At low axial loads, the dependence between the velocity and temperature gradient is nonlinear. At high axial loads, however, the interfacial resistance is reduced and the migration velocity depends linearly on the temperature gradient. All-liquid inclusions filled with mixed brines were also studied. For gas-liquid inclusions, three different gas phases (helium, air and argon) were compared. Migration studies were also conducted on single crystallites of natural salt as well as in polycrystalline natural salt samples. The behavior of the inclusions at large angle grain boudaries was observed

  2. Endoscopic detection rate of sessile serrated lesions in Lynch syndrome patients is comparable with an age- and gender-matched control population: case-control study with expert pathology review.

    Science.gov (United States)

    Vleugels, Jasper L A; Sahin, Husna; Hazewinkel, Yark; Koens, Lianne; van den Berg, Jose G; van Leerdam, Monique E; Dekker, Evelien

    2018-05-01

    Carcinogenesis in Lynch syndrome involves fast progression of adenomas to colorectal cancer (CRC) because of microsatellite instability. The role of sessile serrated lesions (SSLs) and the serrated neoplasia pathway in these patients is unknown. The aim of this matched case-control study was to compare endoscopic detection rates and distribution of SSLs in Lynch syndrome patients with a matched control population. We collected data of Lynch syndrome patients with a proven germline mutation who underwent colonoscopy between January 2011 and April 2016 in 2 tertiary referral hospitals. Control subjects undergoing elective colonoscopy from 2011 and onward for symptoms or surveillance were selected from a prospectively collected database. Patients were matched 1:1 for age, gender, and index versus surveillance colonoscopy. An expert pathology review of serrated polyps was performed. The primary outcomes included the detection rates and distribution of SSLs. We identified 321 patients with Lynch syndrome who underwent at least 1 colonoscopy. Of these, 223 Lynch syndrome patients (mean age, 49.3; 59% women; index colonoscopy, 56%) were matched to 223 control subjects. SSLs were detected in 7.6% (95% confidence interval, 4.8-11.9) of colonoscopies performed in Lynch syndrome patients and in 6.7% (95% confidence interval, 4.1-10.8) of control subjects (P = .86). None of the detected SSLs in Lynch syndrome patients contained dysplasia. The detection rate of SSLs in Lynch syndrome patients undergoing colonoscopy is comparable with a matched population. These findings suggest that the role of the serrated neoplasia pathway in CRC development in Lynch syndrome seems to be comparable with that in the general population. Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

  3. Permeability of salt-crystal interfaces to brine

    International Nuclear Information System (INIS)

    Gilpatrick, L.O.; Baes, C.F. Jr.; Shor, A.J.; Canonico, C.M.

    1982-06-01

    To investigate the movement of brine along grain boundaries in polycrystalline salt, measurements have been made of the radial flow of brine through the interface between cylindrical salt crystals under axial stresses to 140 bar and temperatures to 80 0 C. For constant conditions, the total flow of brine showed a linear dependence on the logarithm of time, and the reciprocal permeability increased linearly with time. Loss of salt from the interface by pressure solution effects was more than enough to account for the decrease in the apparent thickness of the interface (i.e., that which may be estimated for an interface of the same permeability formed by plane parallel surfaces). This apparent thickness, initially as large as 10 μm, decreased to as little as 0.2 μm with exposure to stress and flowing brine. It decreased quickly with sudden increases in axial stress and usually increased, though not reversibly, with decreases in stress. The rate of increase in the reciprocal permeability with time was roughly proportional to the stress and to the square of the hydraulic pressure drop. Assuming similar apparent thicknesses for the grain boundaries in polycrystalline salt, permeabilities are predicted that are quite consistent with the low values reported for stressed core specimens

  4. Assessment of Brine Management for Geologic Carbon Sequestration

    Energy Technology Data Exchange (ETDEWEB)

    Breunig, Hanna M. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Environmental Energy Technologies Division; Birkholzer, Jens T. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Environmental Energy Technologies Division; Borgia, Andrea [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Environmental Energy Technologies Division; Price, Phillip N. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Environmental Energy Technologies Division; Oldenburg, Curtis M. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Environmental Energy Technologies Division; McKone, Thomas E. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Environmental Energy Technologies Division

    2013-06-13

    Geologic carbon sequestration (GCS) is the injection of carbon dioxide (CO2), typically captured from stationary emission sources, into deep geologic formations to prevent its entry into the atmosphere. Active pilot facilities run by regional United States (US) carbon sequestration partnerships inject on the order of one million metric tonnes (mt) CO2 annually while the US electric power sector emits over 2000 million mt-CO2 annually. GCS is likely to play an increasing role in US carbon mitigation initiatives, but scaling up GCS poses several challenges. Injecting CO2 into sedimentary basins raises fluid pressure in the pore space, which is typically already occupied by naturally occurring, or native, brine. The resulting elevated pore pressures increase the likelihood of induced seismicity, of brine or CO2 escaping into potable groundwater resources, and of CO2 escaping into the atmosphere. Brine extraction is one method for pressure management, in which brine in the injection formation is brought to the surface through extraction wells. Removal of the brine makes room for the CO2 and decreases pressurization. Although the technology required for brine extraction is mature, this form of pressure management will only be applicable if there are cost-­effective and sustainable methods of disposing of the extracted brine. Brine extraction, treatment, and disposal may increase the already substantial capital, energy, and water demands of Carbon dioxide Capture and Sequestration (CCS). But, regionally specific brine management strategies may be able to treat the extracted water as a source of revenue, energy, and water to subsidize CCS costs, while minimizing environmental impacts. By this approach, value from the extracted water would be recovered before disposing of any resulting byproducts. Until a price is placed on carbon, we expect that utilities and other CO2 sources will be

  5. Brine Pockets in the Icy Shell on Europa: Distribution, Chemistry, and Habitability

    Science.gov (United States)

    Zolotov, M. Yu; Shock, E. L.; Barr, A. C.; Pappalardo, R. T.

    2004-01-01

    On Earth, sea ice is rich in brine, salt, and gas inclusions that form through capturing of seawater during ice formation. Cooling of the ice over time leads to sequential freezing of captured sea-water, precipitation of salts, exsolution of gases, and formation of brine channels and pockets. Distribution and composition of brines in sea ice depend on the rate of ice formation, vertical temperature gradient, and the age of the ice. With aging, the abundance of brine pockets decreases through downward migration. De- spite low temperatures and elevated salinities, brines in sea ice provide a habitat for photosynthetic and chemosynthetic organisms. On Europa, brine pockets and channels could exist in the icy shell that may be from a few km to a few tens of km thick and is probably underlain by a water ocean. If the icy shell is relatively thick, convection could develop, affecting the temperature pattern in the ice. To predict the distribution and chemistry of brine pockets in the icy shell we have combined numerical models of the temperature distribution within a convecting shell, a model for oceanic chemistry, and a model for freezing of Europan oceanic water. Possible effects of brine and gas inclusions on ice rheology and tectonics are discussed.

  6. Concentrated Brine Treatment using New Energy in Coal Mine Evaporation Ponds

    Science.gov (United States)

    Li, Ting; Li, Jingfeng

    2017-12-01

    Recently, more and more coal mine water is being advanced treated and reused in China. The concentrated brine that results from advanced treatment methods can only be evaporated in an evaporation pond. Because of limited treatment capabilities and winter freezing, evaporation ponds often overflow, causing environment contamination. In this paper, based on analysis of brine water quality and economic-technical feasibility, we present a suitable treatment method for brine in evaporation ponds as electrodialysis using solar energy. In addition, we propose a new system to treat brine in coal mine evaporation ponds, which is powered by solar and wind. The operating efficiency of this treatment system proposed in this paper can meet the concentrated brine treatment demands in most coal mines in western mining areas of China and it places the photovoltaic power generation plates on the surface of the evaporation pond on a fixed floating island, which reduces any risk associated with land acquisition. This system can enhance brine treatment efficiency, requires a reduced evaporation pond area, increases the utilization of coal mine water, and minimizes the risk of environment contamination.

  7. Indsigter og udfordringer i danske Lynch-syndrom-familier

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Timshel, Susanne; Nilbert, Mef

    2008-01-01

    The Danish Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Register is a national resource that registers families with hereditary colorectal cancer. HNPCC is the most common type of hereditary colorectal cancer and carries an increased risk of other tumor types. Genetic diagnostics has...... identified 88 unique mutations in 164 Danish families delineated as Lynch syndrome families. Predictive genetic diagnostics enables the identification of high risk individuals, who are offered participation in surveillance programmes that effectively reduce morbidity and mortality in colorectal cancer....

  8. Improving the performance of brine wells at Gulf Coast strategic petroleum reserve sites

    Energy Technology Data Exchange (ETDEWEB)

    Owen, L.B.; Quong, R. (eds.)

    1979-11-05

    At the request of the Department of Energy, field techniques were developed to evaluate and improve the injection of brine into wells at Strategic Petroleum Reserve (SPR) sites. These wells are necessary for the disposal of saturated brine removed from salt domes where oil is being stored. The wells, which were accepting brine at 50 percent or less of their initial design rates, were impaired by saturated brine containing particulates that deposited on the sand face and in the geologic formation next to the wellbore. Corrosion of the brine-disposal pipelines and injection wells contributed to the impairment by adding significant amounts of particulates in the form of corrosion products. When tests were implemented at the SPR sites, it was found that the poor quality of injected brines was the primary cause of impaired injection; that granular-media filtration, when used with chemical pretreatment, is an effective method for removing particulates from hypersaline brine; that satisfactory injection-well performance can be attained with prefiltered brines; and that corrosion rates can be substantially reduced by oxygen-scavenging.

  9. Aerobic methanotrophic communities at the Red Sea brine-seawater interface

    Directory of Open Access Journals (Sweden)

    Rehab Z. Abdallah

    2014-09-01

    Full Text Available The central rift of the Red Sea contains 25 brine pools with different physicochemical conditions, dictating the diversity and abundance of the microbial community. Three of these pools, the Atlantis II, Kebrit and Discovery Deeps, are uniquely characterized by a high concentration of hydrocarbons. The brine-seawater interface, described as an anoxic-oxic (brine-seawater boundary, is characterized by a high methane concentration, thus favoring aerobic methane oxidation. The current study analyzed the aerobic free–living methane-oxidizing bacterial communities that potentially contribute to methane oxidation at the brine-seawater interfaces of the three aforementioned brine pools, using metagenomic pyrosequencing, 16S rRNA pyrotags and pmoA library constructs. The sequencing of 16S rRNA pyrotags revealed that these interfaces are characterized by high microbial community diversity. Signatures of aerobic methane-oxidizing bacteria were detected in the Atlantis II Interface (ATII-I and the Kebrit Deep Upper (KB-U and Lower (KB-L brine-seawater interfaces. Through phylogenetic analysis of pmoA, we further demonstrated that the ATII-I aerobic methanotroph community is highly diverse. We propose four ATII-I pmoA clusters. Most importantly, cluster 2 groups with marine methane seep methanotrophs, and cluster 4 represent a unique lineage of an uncultured bacterium with divergent alkane monooxygenases. Moreover, non-metric multidimensional scaling (NMDS based on the ordination of putative enzymes involved in methane metabolism showed that the Kebrit interface layers were distinct from the ATII-I and DD-I brine-seawater interfaces.

  10. Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

    Science.gov (United States)

    Jóri, Balazs; Kamps, Rick; Xanthoulea, Sofia; Delvoux, Bert; Blok, Marinus J; Van de Vijver, Koen K; de Koning, Bart; Oei, Felicia Trups; Tops, Carli M; Speel, Ernst Jm; Kruitwagen, Roy F; Gomez-Garcia, Encarna B; Romano, Andrea

    2015-12-01

    The risk to develop colorectal and endometrial cancers among subjects testing positive for a pathogenic Lynch syndrome mutation varies, making the risk prediction difficult. Genetic risk modifiers alter the risk conferred by inherited Lynch syndrome mutations, and their identification can improve genetic counseling. We aimed at identifying rare genetic modifiers of the risk of Lynch syndrome endometrial cancer. A family based approach was used to assess the presence of genetic risk modifiers among 35 Lynch syndrome mutation carriers having either a poor clinical phenotype (early age of endometrial cancer diagnosis or multiple cancers) or a neutral clinical phenotype. Putative genetic risk modifiers were identified by Next Generation Sequencing among a panel of 154 genes involved in endometrial physiology and carcinogenesis. A simple pipeline, based on an allele frequency lower than 0.001 and on predicted non-conservative amino-acid substitutions returned 54 variants that were considered putative risk modifiers. The presence of two or more risk modifying variants in women carrying a pathogenic Lynch syndrome mutation was associated with a poor clinical phenotype. A gene-panel is proposed that comprehends genes that can carry variants with putative modifying effects on the risk of Lynch syndrome endometrial cancer. Validation in further studies is warranted before considering the possible use of this tool in genetic counseling.

  11. Origin and Evolution of Li-rich Brines at Clayton Valley, Nevada, USA

    Science.gov (United States)

    Munk, L. A.; Bradley, D. C.; Hynek, S. A.; Chamberlain, C. P.

    2011-12-01

    Lithium is the key component in Li-ion batteries which are the primary energy storage for electric/hybrid cars and most electronics. Lithium is also an element of major importance on a global scale because of interest in increasing reliance on alternative energy sources. Lithium brines and pegmatites are the primary and secondary sources, respectively of all produced Li. The only Li-brine in the USA that is currently in production exists in Clayton Valley, NV. The groundwater brines at Clayton Valley are located in a closed basin with an average evaporation rate of 142 cm/yr. The brines are pumped from six aquifer units that are composed of varying amounts of volcanic ash, gravel, salt, tufa, and fine-grained sediments. Samples collected include spring water, fresh groundwater, groundwater brine, and meteoric water (snow). The brines are classified as Na-Cl waters and the springs and fresh groundwater have a mixed composition and are more dilute than the brines. The Li content of the waters in Clayton Valley ranges from less than 1 μg/L (snow) up to 406.9 mg/L in the lower ash aquifer system (one of six aquifers in the basin). The cold springs surrounding Clayton Valley have Li concentrations of about 1 mg/L. A hot spring located just east of Clayton Valley contains 1.6 mg/L Li. The Li concentration of the fresh groundwater is less than 1 mg/L. Hot groundwater collected in the basin contain 30-40 mg/L Li. Water collected from a geothermal drilling north of Silver Peak, NV, had water with 4.9 mg/L Li at a depth of >1000m. The δD and δ18O isotopic signatures of fresh groundwater and brine form an evaporation path that extends from the global meteoric water line toward the brine from the salt aquifer system (the most isotopically enriched brine with ave. δD = -3.5, ave. δ18O = -67.0). This suggests that mixing of inflow water with the salt aquifer brine could have played an important role in the evolution of the brines. Along with mixing, evaporation appears to

  12. Monitoring of Miit glass solution interactions by brine analysis

    International Nuclear Information System (INIS)

    Sassoon, R.E.; Gong, M.; Adel-Hadadi, M.; Brandys, M.; Barkatt, A.; Macedo, P.B.

    1989-01-01

    Analyses of brine samples taken from borehole MIIT=8 at the WIPP site were carried out in order to study the leaching behavior of the brine in this system. The standard addition method was used with the analytical techniques of AA, DCP and ICP-MS to determine the concentration of the components in the brine. The changes in the concentration of the major components, Na, Mg and K can be explained by reactions of the brine with the rock salt walls of the borehole. From the data obtained for the other components no leaching of the SRL-Y glass discs in the test could be observed. It was however possible to determine an upper limit for leaching of the glass from isotope ratio studies made on Li which yielded a value for the leach rate of lithium from the glass of 0.117 g m -2 d -1

  13. “Silencio”: hearing loss in David Lynch's Mulholland Drive

    Directory of Open Access Journals (Sweden)

    Allister Mactaggart

    2014-11-01

    Full Text Available In a filmmaking career replete with extraordinary images and sounds, David Lynch's Mulholland Drive (2001 stands out for attention as a striking and seemingly inexhaustible resource for analysis. In this article, this film is used to examine the specific ways in which Lynch uses pre-existing pop songs to wrap the spectator within the filmic soundscape. Nowhere is the complexity and uncanniness of pop music made more explicit than in Rebekah Del Rio's stunning performance of “Llorando (Crying” in the Club Silencio scene. The split between the singer's powerful performance and her subsequent collapse with the sound of the voice left hanging in the air marks a pivotal point in the film. This scene, coupled with other examples of feminine jouissance, is contrasted with the deadening roar of the master's voice, which solely demands obedience but is deaf to any reply. At the core of this article is an analysis of the status of the voice (and the gaze as examples of the Lacanian object a and its relationship to Marx's concept of surplus value. Mulholland Drive provides a powerful demonstration of how these concepts can be seen, heard, and felt in relation to film, and how sound can reverberate into the spaces and silences beyond the screen.

  14. Modeling brine inflow to Room Q: A numerical investigation of flow mechanisms

    International Nuclear Information System (INIS)

    Freeze, G.A.; Christian-Frear, T.L.; Webb, S.W.

    1997-04-01

    A hydrologic modeling study was performed to gain insight into the flow mechanisms around Room Q. A summary of hydrologic and structural data and of predictive fluid flow models from Room Q are provided. Six years of measured data are available from the time of excavation. No brine accumulation in Room Q was measured in the first two years following excavation. However, there is considerable uncertainty associated with this early-time data due to inadequate sealing of the room. Brine may have been lost to evaporation or it may have flowed into newly created disturbed rock zone (DRZ) porosity resulting from excavation. Non-zero brine accumulation rates were measured from 2--5 years, but brine accumulation within the room dropped to zero after 5.5 years. A conceptual model for brine inflow to Room Q was developed which assumes far-field Darcy flow combined with an increasing DRZ pore volume. Numerical simulations employed TOUGH28W and used predictive DRZ porosity increase with time from SPECTROM-32 rock deformation simulations. Simulated brine inflow showed good agreement with measured brine accumulation rates for the first five years. Two important conclusions were drawn from the simulation results: (1) early-time brine inflow to the room can be reduced to zero if the DRZ pore volume increases with time, and (2) brine accumulation (inflow) rates from 2 to 5 years suggest a far-field permeability of 5 x 10 -22 m 2 with a bulk rock compressibility of 5.4 x 10 -12 Pa -1

  15. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome

    DEFF Research Database (Denmark)

    Watson, Patrice; Vasen, Hans F A; Mecklin, Jukka-Pekka

    2008-01-01

    Persons with the Lynch syndrome (LS) are at high risk for cancer, including cancers of the small bowel, stomach, upper urologic tract (renal pelvis and ureter), ovary, biliary tract and brain tumors, in addition to the more commonly observed colorectal and endometrial cancers. Cancer prevention...

  16. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  17. Prospective Study of Combined Colon and Endometrial Cancer Screening in Women With Lynch Syndrome: A Patient-Centered Approach

    Science.gov (United States)

    Huang, Marilyn; Sun, Charlotte; Boyd-Rogers, Stephanie; Burzawa, Jennifer; Milbourne, Andrea; Keeler, Elizabeth; Yzquierdo, Rebecca; Lynch, Patrick; Peterson, Susan K.; Lu, Karen

    2011-01-01

    Background: Endometrial and colorectal cancers are the most common cancers in Lynch syndrome. Consensus guidelines recommend annual endometrial biopsy (EMB) and regular colonoscopies. We assessed the feasibility of concurrently performing EMB and colonoscopy and evaluated women's perception of pain, satisfaction, and acceptability. Methods: From July 2002 to December 2009, women who had a gene mutation for Lynch syndrome, met the Amsterdam II criteria, or had a high-risk situation that required screening were prospectively enrolled. After conscious sedation, the procedures were sequentially performed. Patients completed pre- and postprocedure questionnaires assessing pain, level of satisfaction, and acceptability. The Wilcoxon rank test and Mann-Whitney test were used to compare pain scores. Results: Forty-two women completed the study. Median age was 37 years (range, 25 to 73). Nineteen had previously had an EMB in the office setting. Women reported significantly lower median levels of pain in the combined procedure compared with previous office setting biopsies (P Lynch syndrome screening recommendations. PMID:21532810

  18. History, genetics, and strategies for cancer prevention in Lynch syndrome.

    Science.gov (United States)

    Kastrinos, Fay; Stoffel, Elena M

    2014-05-01

    Colorectal cancer (CRC) is the most common gastrointestinal malignancy and the third cause of cancer death in men and women in the United States. The majority of CRC cases diagnosed annually are due to sporadic events, but up to 6% are attributed to known monogenic disorders that confer a markedly increased risk for the development of CRC and multiple extracolonic malignancies. Lynch syndrome is the most common inherited CRC syndrome and is associated with mutations in DNA mismatch repair genes, mainly MLH1 and MSH2 but also MSH6, PMS2, and EPCAM. Although the risk of CRC and endometrial cancer may approach near 75% and 50%, respectively, in gene mutation carriers, the identification of these individuals and at-risk family members through predictive genetic testing provides opportunities for cancer prevention including specialized cancer screening, intensified surveillance, and/or prophylactic surgeries. This article will provide a review of the major advances in risk assessment, molecular genetics, DNA mutational analyses, and cancer prevention and management made since Lynch syndrome was first described 100 years ago. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

  19. Strontium isotope evidence on the history of oilfield brines, Mediterranean Coastal Plain, Israel

    International Nuclear Information System (INIS)

    Starinsky, A.; Bielski, M.; Lazar, B.; Steinitz, G.; Raab, M.

    1983-01-01

    The isotopic composition of Sr in oil field brines from the Mediterranean Coastal Plain was determined in 18 drillholes. The brines are characterized by salinities ranging from 35 to 93 g/l (TDS), Sr from 28 to 350 mg/l, Sr/Ca molar ratios from 0.011 to 0.053 and 87 Sr/ 86 Sr ratios from 0.7075 to 0.7090. E and A = 0.7081 +- 0.0004 (2σ). The brines are classified into two groups: (a) Mavqi'im group - brines with relatively high 87 Sr/ 86 Sr ratios, sampled from clastics, dolomites and anhydrites of Upper Miocene age. (b) Heletz group - brines with relatively low 87 Sr/ 86 Sr ratios, sampled from sandstones and dolomites of Lower Cretaceous age. Equations were derived to show the relations between 87 Sr/ 86 Sr ratio of the brines and the processes through which they evolved. It is suggested that both groups of brines originated from Mediterranean evaporated seawater during the Messinian desiccation. The strontium isotope composition of the seawater is reflected in that of both groups of brines, the Mavqi'im group containing the original 87 Sr/ 86 Sr ratio. The Heletz group evolved later on, through exchange reactions of those primary brines with a carbonate sequence of Cretaceous age and consequently new 87 Sr/ 86 Sr ratios could have been developed. (author)

  20. Recovery of energy from geothermal brine and other hot water sources

    Science.gov (United States)

    Wahl, III, Edward F.; Boucher, Frederic B.

    1981-01-01

    Process and system for recovery of energy from geothermal brines and other hot water sources, by direct contact heat exchange between the brine or hot water, and an immiscible working fluid, e.g. a hydrocarbon such as isobutane, in a heat exchange column, the brine or hot water therein flowing countercurrent to the flow of the working fluid. The column can be operated at subcritical, critical or above the critical pressure of the working fluid. Preferably, the column is provided with a plurality of sieve plates, and the heat exchange process and column, e.g. with respect to the design of such plates, number of plates employed, spacing between plates, area thereof, column diameter, and the like, are designed to achieve maximum throughput of brine or hot water and reduction in temperature differential at the respective stages or plates between the brine or hot water and the working fluid, and so minimize lost work and maximize efficiency, and minimize scale deposition from hot water containing fluid including salts, such as brine. Maximum throughput approximates minimum cost of electricity which can be produced by conversion of the recovered thermal energy to electrical energy.

  1. Protein removal from waste brines generated during ham salting through acidification and centrifugation.

    Science.gov (United States)

    Gutiérrez-Martínez, Maria del Rosario; Muñoz-Guerrero, Hernán; Alcaína-Miranda, Maria Isabel; Barat, José Manuel

    2014-03-01

    The salting step in food processes implies the production of large quantities of waste brines, having high organic load, high conductivity, and other pollutants with high oxygen demand. Direct disposal of the residual brine implies salinization of soil and eutrophication of water. Since most of the organic load of the waste brines comes from proteins leaked from the salted product, precipitation of dissolved proteins by acidification and removal by centrifugation is an operation to be used in waste brine cleaning. The aim of this study is optimizing the conditions for carrying out the separation of proteins from waste brines generated in the pork ham salting operation, by studying the influence of pH, centrifugal force, and centrifugation time. Models for determining the removal of proteins depending on the pH, centrifugal force, and time were obtained. The results showed a high efficacy of the proposed treatment for removing proteins, suggesting that this method could be used for waste brine protein removal. The best pH value to be used in an industrial process seems to be 3, while the obtained results indicate that almost 90% of the proteins from the brine can be removed by acidification followed by centrifugation. A further protein removal from the brine should have to be achieved using filtrating techniques, which efficiency could be highly improved as a consequence of the previous treatment through acidification and centrifugation. Waste brines from meat salting have high organic load and electrical conductivity. Proteins can be removed from the waste brine by acidification and centrifugation. The total protein removal can be up to 90% of the initial content of the waste brine. Protein removal is highly dependent on pH, centrifugation rate, and time. © 2014 Institute of Food Technologists®

  2. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

    NARCIS (Netherlands)

    Broeke, S.W. ten; Brohet, R.M.; Tops, C.M.; Klift, H.M. van der; Velthuizen, M.E.; Bernstein, I.; Capella Munar, G.; Garcia, E.; Hoogerbrugge, N.; Letteboer, T.G.; Menko, F.H.; Lindblom, A.; Mensenkamp, A.R.; Moller, P.; Os, T.A. van; Rahner, N.; Redeker, B.J.; Sijmons, R.H.; Spruijt, L.; Suerink, M.; Vos, Y.J.; Wagner, A.; Hes, F.J.; Vasen, H.F.A.; Nielsen, M.; Wijnen, J.T.

    2015-01-01

    PURPOSE: The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. METHODS: Data were collected from 98

  3. RNF43 is mutated less frequently in Lynch Syndrome compared with sporadic microsatellite unstable colorectal cancers.

    Science.gov (United States)

    Fennell, Lochlan J; Clendenning, Mark; McKeone, Diane M; Jamieson, Saara H; Balachandran, Samanthy; Borowsky, Jennifer; Liu, John; Kawamata, Futoshi; Bond, Catherine E; Rosty, Christophe; Burge, Matthew E; Buchanan, Daniel D; Leggett, Barbara A; Whitehall, Vicki L J

    2018-01-01

    The WNT signaling pathway is commonly altered during colorectal cancer development. The E3 ubiquitin ligase, RNF43, negatively regulates the WNT signal through increased ubiquitination and subsequent degradation of the Frizzled receptor. RNF43 has recently been reported to harbor frequent truncating frameshift mutations in sporadic microsatellite unstable (MSI) colorectal cancers. This study assesses the relative frequency of RNF43 mutations in hereditary colorectal cancers arising in the setting of Lynch syndrome. The entire coding region of RNF43 was Sanger sequenced in 24 colorectal cancers from 23 patients who either (i) carried a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH6, MSH2, PMS2), or (ii) showed immunohistochemical loss of expression of one or more of the DNA mismatch repair proteins, was BRAF wild type at V600E, were under 60 years of age at diagnosis, and demonstrated no promoter region methylation for MLH1 in tumor DNA. A validation cohort of 44 colorectal cancers from mismatch repair germline mutation carriers from the Australasian Colorectal Cancer Family Registry (ACCFR) were sequenced for the most common truncating mutation hotspots (X117 and X659). RNF43 mutations were found in 9 of 24 (37.5%) Lynch syndrome colorectal cancers. The majority of mutations were frameshift deletions in the G659 G7 repeat tract (29%); 2 cancers (2/24, 8%) from the one patient harbored frameshift mutations at codon R117 (C6 repeat tract) within exon 3. In the ACCFR validation cohort, RNF43 hotspot mutations were identified in 19/44 (43.2%) of samples, which was not significantly different to the initial series. The proportion of mutant RNF43 in Lynch syndrome related colorectal cancers is significantly lower than the previously reported mutation rate found in sporadic MSI colorectal cancers. These findings identify further genetic differences between sporadic and hereditary colorectal cancers. This may be because Lynch Syndrome cancers

  4. Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.

    Science.gov (United States)

    Hitchins, Megan P

    2016-07-01

    Constitutional epimutation of the DNA mismatch repair gene, MLH1, represents a minor cause of Lynch syndrome. MLH1 epimutations are characterized by the soma-wide distribution of methylation of a single allele of the MLH1 promoter accompanied by constitutive allelic loss of transcription. 'Primary' MLH1 epimutations, considered pure epigenetic defects, tend to arise de novo in patients without a family history or any apparent genetic mutation. These demonstrate non-Mendelian inheritance. 'Secondary' MLH1 epimutations have a genetic basis and have been linked to non-coding genetic alterations in the vicinity of MLH1. These demonstrate autosomal dominant inheritance. Despite convincing evidence of their role in causing Lynch-type cancers, routine screening for MLH1 epimutations has not been widely adopted. Complicating factors may include: the need to perform additional methylation-based testing beyond the standard genetic screening for a germline mutation; the lack of a consensus algorithm for the selection of patients warranting MLH1 epimutation testing; overlapping molecular pathology features of MLH1 methylation and loss of MLH1 expression with more prevalent sporadic MSI cancers; the rarity of MLH1 epimutation; the variable inter-generational inheritance patterns; and the cost-effectiveness of screening. Nevertheless, a positive molecular diagnosis of MLH1 epimutation is clinically important because carriers have a high personal risk of developing metachronous Lynch-type cancers, and their relatives may also be at risk of carriage. Extending existing universal and clinic-based screening algorithms for Lynch syndrome to include an additional arm of selection criteria for cases warranting MLH1 epimutation testing could provide a cost-effective means of diagnosing these cases.

  5. Efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability.

    Science.gov (United States)

    Nakagawa, Hitoshi; Nagasaka, Takeshi; Cullings, Harry M; Notohara, Kenji; Hoshijima, Naoko; Young, Joanne; Lynch, Henry T; Tanaka, Noriaki; Matsubara, Nagahide

    2009-06-01

    It is sometimes difficult to diagnose Lynch syndrome by the simple but strict clinical criteria, or even by the definitive genetic testing for causative germline mutation of mismatch repair genes. Thus, some practical and efficient screening strategy to select highly possible Lynch syndrome patients is exceedingly desirable. We performed a comprehensive study to evaluate the methylation status of whole MLH1 promoter region by direct bisulfite sequencing of the entire MLH1 promoter regions on Lynch and non-Lynch colorectal cancers (CRCs). Then, we established a convenient assay to detect methylation in key CpG islands responsible for the silencing of MLH1 expression. We studied the methylation status of MLH1 as well as the CpG island methylator phenotype (CIMP) and immunohistochemical analysis of mismatch repair proteins on 16 cases of Lynch CRC and 19 cases of sporadic CRCs with high-frequency microsatellite instability (MSI-H). Sensitivity to detect Lynch syndrome by MLH1 (CCAAT) methylation was 88% and the specificity was 84%. Positive likelihood ratio (PLR) was 5.5 and negative likelihood ratio (NLR) was 0.15. Sensitivity by mutational analysis of BRAF was 100%, specificity was 84%, PLR was 6.3 and NLR was zero. By CIMP analysis; sensitivity was 88%, specificity was 79%, PLR was 4.2, and NLR was 0.16. BRAF mutation or MLH1 methylation analysis combined with MSI testing could be a good alternative to screen Lynch syndrome patients in a cost effective manner. Although the assay for CIMP status also showed acceptable sensitivity and specificity, it may not be practical because of its rather complicated assay.

  6. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists

    NARCIS (Netherlands)

    Menko, Fred H.; Aalfs, Cora M.; Henneman, Lidewij; Stol, Yrrah; Wijdenes, Miranda; Otten, Ellen; Ploegmakers, Marleen M. J.; Legemaate, Johan; Smets, Ellen M. A.; de Wert, Guido M. W. R.; Tibben, Aad

    2013-01-01

    The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the

  7. Informing family members of individuals with Lynch syndrome : a guideline for clinical geneticists

    NARCIS (Netherlands)

    Menko, Fred H.; Aalfs, Cora M.; Henneman, Lidewij; Stol, Yrrah; Wijdenes, Miranda; Otten, Ellen; Ploegmakers, Marleen M. J.; Legemaate, Johan; Smets, Ellen M. A.; de Wert, Guido M. W. R.; Tibben, Aad

    The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the

  8. CONTACT ANGLE OF YUCCA MOUNTAIN WELDED TUFF WITH WATER AND BRINES

    International Nuclear Information System (INIS)

    H. Kalia

    2006-01-01

    A number of tests were performed to acquire contact angles between Yucca Mountain welded tuff from Topopah Springs Lower Lithophysal geologic unit and various brine solutions. The tests were performed on core disks received from Sample Management Facility (SMF), oven dried to a constant weight and the core disks vacuum saturated in: distilled water, J-13 water, calcium chloride brine and sodium chloride brine to constant weight. The contact angles were acquired from eight points on the surface of the core disks, four on rough surface, and four on polished surface. The contact angle was measured by placing a droplet of the test fluid, distilled water, J-13 water, calcium chloride brine and sodium chloride brine on the core disks. The objective of this test was to acquire contact angles as a potential input to estimating capillary forces in accumulated dust on the waste packages and drip shields slated for the proposed High-Level Radioactive Waste Repository at Yucca Mountain, Nevada. It was noted that once the droplet contacts the test surface, it continues to spread hence the contact angle continues to decrease with elapsed time. The maximum observed angle was at time 0 or when the drop contacted the rock surface. The measured contact angle, in all cases has significant scatter. In general, the time zero contact angles for core disks saturated in sodium chloride brine were smaller than those saturated in calcium chloride brine, distilled water, and J-13 water. The contact angles for samples saturated in distilled water, J-13 water and calcium chloride brine at time zero were similar. There was slight difference between the observed contact angles for smooth and rough surface of the test samples. The contact angles for smooth surfaces were smaller than for the rough surfaces

  9. Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

    NARCIS (Netherlands)

    ten Broeke, Sanne W.; Brohet, Richard M.; Tops, Carli M.; van der Klift, Heleen M.; Velthuizen, Mary E.; Bernstein, Inge; Capellá Munar, Gabriel; Gomez Garcia, Encarna; Hoogerbrugge, Nicoline; Letteboer, Tom G. W.; Menko, Fred H.; Lindblom, Annika; Mensenkamp, Arjen R.; Moller, Pal; van Os, Theo A.; Rahner, Nils; Redeker, Bert J. W.; Sijmons, Rolf H.; Spruijt, Liesbeth; Suerink, Manon; Vos, Yvonne J.; Wagner, Anja; Hes, Frederik J.; Vasen, Hans F.; Nielsen, Maartje; Wijnen, Juul T.

    2015-01-01

    Purpose The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. Methods Data were collected from 98 PMS2

  10. Lynch Syndrome Caused by Germline PMS2 Mutations : Delineating the Cancer Risk

    NARCIS (Netherlands)

    ten Broeke, Sanne W.; Brohet, Richard M.; Tops, Carli M.; van der Klift, Heleen M.; Velthuizen, Mary E.; Bernstein, Inge; Capella Munar, Gabriel; Garcia, Encarna Gomez; Hoogerbrugge, Nicoline; Letteboer, Tom G. W.; Menko, Fred H.; Lindblom, Annika; Mensenkamp, Arjen R.; Moller, Pal; Van Os, Theo A.; Rahner, Nils; Redeker, Bert J. W.; Sijmons, Rolf H.; Spruijt, Liesbeth; Suerink, Manon; Vos, Yvonne J.; Wagner, Anja; Hes, Frederik J.; Vasen, Hans F.; Nielsen, Maartje; Wijnen, Juul T.

    2015-01-01

    Purpose The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. Methods Data were collected from 98 PMS2

  11. Efficacy of b-lynch brace suture in postpartum haemorrhage

    International Nuclear Information System (INIS)

    Tarique, S.; Wazir, S.; Moeen, G.

    2011-01-01

    Massive uncontrolled haemorrhage after childbirth is the leading cause of maternal death in developing countries. Postpartum haemorrhage is traditionally defined as blood loss of more than 500 ml after vaginal delivery and more than 1000 ml after caesarean section, but intraoperative estimation of blood loss is inaccurate. Uterine atony alone accounts for 75 - 90% of PPH. To estimate the effectiveness and safety of B-Lynch brace Suture in the management of primary postpartum haemorrhage (PPH). (author)

  12. Portable brine evaporator unit, process, and system

    Science.gov (United States)

    Hart, Paul John; Miller, Bruce G.; Wincek, Ronald T.; Decker, Glenn E.; Johnson, David K.

    2009-04-07

    The present invention discloses a comprehensive, efficient, and cost effective portable evaporator unit, method, and system for the treatment of brine. The evaporator unit, method, and system require a pretreatment process that removes heavy metals, crude oil, and other contaminates in preparation for the evaporator unit. The pretreatment and the evaporator unit, method, and system process metals and brine at the site where they are generated (the well site). Thus, saving significant money to producers who can avoid present and future increases in transportation costs.

  13. Kinetics of radioisotope exchange between brine and rock in a geothermal system

    International Nuclear Information System (INIS)

    Hammond, D.E.; Zukin, J.G.; Teh-Lung Ku

    1988-01-01

    A wide range of isotopes in the /sup 238/U, /sup 235/U, and /sup 232/Th decay chains was measured in geothermal brines collected from two production zones at 1898 and 3220 m in the Salton Sea Scientific Drilling Project well. High concentrations of radium, radon, and lead isotopes are generated and maintained by the input of these isotopes from solid phases into brine by both recoil and leaching processes, by the high chloride content of the brine which complexes radium and lead, and by the apparent absence of suitable unoccupied adsorption sites. In contrast, uranium, thorium, actinium, bismuth, and polonium isotopes all have low concentrations due to their efficient sorption from brine to rock. Measurements of short-lived isotopes in these decay series yield insights regarding the mechanisms controlling radioisotope exchange, and they permit estimation of rates of brine-rock interaction. For example, the /sup 228/Ac//sup 228/Ra activity ratio of 0.2 in brines indicates that the mean residence time of actinium in solution before sorption onto solid surfaces is less than 2.5 hours

  14. Diagnostic Strategies for Early Lynch Syndrome Detection: From Molecular Testing to Economic Evaluation

    NARCIS (Netherlands)

    C.H.M. Leenen (Celine)

    2015-01-01

    markdownabstract__Abstract__ Lynch syndrome (LS) is an autosomal dominant inherited syndrome that predisposes to multiple malignancies, in particular colorectal cancer (CRC) and endometrial cancer (EC). The lifetime risk of developing CRC for a LS mutation carrier is 25 to 70%, while women

  15. Prevalence of small-bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy

    NARCIS (Netherlands)

    Haanstra, Jasmijn F.; Al-Toma, Abdul; Dekker, Evelien; Vanhoutvin, Steven A. L. W.; Nagengast, Fokko M.; Mathus-Vliegen, Elisabeth M.; van Leerdam, Monique E.; Cappel, Wouter H. de Vos tot Nederveen; Sanduleanu, Silvia; Veenendaal, Roeland A.; Cats, Annemieke; Vasen, Hans F. A.; Kleibeuker, Jan H.; Koornstra, Jan J.

    2015-01-01

    Objective The aim was to determine the prevalence of small-bowel neoplasia in asymptomatic patients with Lynch syndrome (LS) by video capsule endoscopy (VCE). Design After obtaining informed consent, asymptomatic proven gene mutation carriers aged 3570 years were included in this prospective

  16. Exploring clinicians' attitudes about using aspirin for risk reduction in people with Lynch Syndrome with no personal diagnosis of colorectal cancer.

    Science.gov (United States)

    Chen, Yanni; Peate, Michelle; Kaur, Rajneesh; Meiser, Bettina; Wong, Tim; Kirk, Judy; Ward, Robyn L; Goodwin, Annabel; Macrae, Finlay; Hiller, Janet; Trainer, Alison H; Mitchell, Gillian

    2017-01-01

    Recent research has shown that aspirin reduces the risk of cancers associated with Lynch Syndrome. However, uncertainty exists around the optimal dosage, treatment duration and whether the benefits of aspirin as a risk-reducing medication (RRM) outweigh adverse medication related side-effects. Little is known about clinicians' attitudes, current practice, and perceived barriers to recommending aspirin as a RRM. To explore the attitudes of clinicians who discuss risk management options with patients with Lynch Syndrome towards using aspirin as a RRM. Clinicians were invited through professional organisations to complete an online survey. Topics included their clinical experience with Lynch Syndrome, views and practice of recommending aspirin as a RRM, and knowledge about clinical risk management guidelines for Lynch Syndrome. Comparison of attitudes was made between three professional groups. 181 respondents were included in the analysis: 59 genetics professionals (genetic counsellors and clinical geneticists, medical oncologists with specialist training in familial cancer), 49 gastroenterologists and 73 colorectal surgeons. Most clinicians (76 %) considered aspirin to be an effective RRM and most (72 %) were confident about discussing it. In all professional categories, those who were confident about discussing aspirin with patients perceived it to be an effective RRM (OR = 2.8 [95 % CI = 1.8-4.2], p Lynch Syndrome patients compared to 69 % of gastroenterologists and 68 % of colorectal surgeons. Those who considered aspirin as an effective RRM or who felt confident in their knowledge of the aspirin literature were more likely (OR = 10 [95 % CI = 1.5-65], p = 0.010, OR = 6 [95 % CI = 2.2-16], p Lynch Syndrome per year were more likely to be confident in their knowledge of the aspirin literature and discussing it with patients (OR = 4.1 [95 % CI = 1.6-10.2], p = 0.003). Explicit recommendations to take aspirin, was reported by 65

  17. Haematuria in association with Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Marwan Ma'ayeh

    2012-04-01

    Full Text Available A 40-year-old Caucasian male presented to the Emergency Department complaining of intermittent painless frank haematuria. Past medical history was significant for Hereditary Non-Polyposis Colon Cancer (HNPCC and a prophylactic total colectomy. Computed tomography urogram showed thickening in the posterior wall of the bladder. Cystoscopy showed a small bladder mass. Histology showed a papillary urothelial neoplasm of low malignant potential. HNPCC, also known as Lynch Syndrome, is an autosomal dominant disorder responsible for 3-5% of colorectal cancers. There are certain cancers known to be associated with HNPCC; colorectal cancer, endometrial, ovarian, stomach, pancreas, biliary tract, small bowel, brain, renal pelvic and ureteric tumours, sebaceous gland adenomas and keratocanthomas. An association with bladder tumours is not well established.

  18. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance

    DEFF Research Database (Denmark)

    Møller, Pål; Seppälä, Toni; Bernstein, Inge

    2017-01-01

    study of patients carrying Lynch syndrome-associated mutations affecting MLH1, MSH2, MSH6 or PMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene. RESULTS: 1942 mutation carriers without previous...... carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24......%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian. CONCLUSIONS: The four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite...

  19. Modeling the morphogenesis of brine channels in sea ice.

    Science.gov (United States)

    Kutschan, B; Morawetz, K; Gemming, S

    2010-03-01

    Brine channels are formed in sea ice under certain constraints and represent a habitat of different microorganisms. The complex system depends on a number of various quantities as salinity, density, pH value, or temperature. Each quantity governs the process of brine channel formation. There exists a strong link between bulk salinity and the presence of brine drainage channels in growing ice with respect to both the horizontal and vertical planes. We develop a suitable phenomenological model for the formation of brine channels both referring to the Ginzburg-Landau theory of phase transitions as well as to the chemical basis of morphogenesis according to Turing. It is possible to conclude from the critical wave number on the size of the structure and the critical parameters. The theoretically deduced transition rates have the same magnitude as the experimental values. The model creates channels of similar size as observed experimentally. An extension of the model toward channels with different sizes is possible. The microstructure of ice determines the albedo feedback and plays therefore an important role for large-scale global circulation models.

  20. Brine migration in salt and its implications in the geologic disposal of nuclear waste

    International Nuclear Information System (INIS)

    Jenks, G.H.; Claiborne, H.C.

    1981-12-01

    This report respresents a comprehensive review and analysis of available information relating to brine migration in salt surrounding radioactive waste in a salt repository. The topics covered relate to (1) the characteristics of salt formations and waste packages pertinent to considerations of rates, amounts, and effects of brine migration, (2) experimental and theoretical information on brine migration, and (3) means of designing to minimize any adverse effects of brine migration. Flooding, brine pockets, and other topics were not considered, since these features will presumably be eliminated by appropriate site selection and repository design. 115 references

  1. SNP association study in PMS2-associated Lynch syndrome.

    Science.gov (United States)

    Ten Broeke, Sanne W; Elsayed, Fadwa A; Pagan, Lisa; Olderode-Berends, Maran J W; Garcia, Encarna Gomez; Gille, Hans J P; van Hest, Liselot P; Letteboer, Tom G W; van der Kolk, Lizet E; Mensenkamp, Arjen R; van Os, Theo A; Spruijt, Liesbeth; Redeker, Bert J W; Suerink, Manon; Vos, Yvonne J; Wagner, Anja; Wijnen, Juul T; Steyerberg, E W; Tops, Carli M J; van Wezel, Tom; Nielsen, Maartje

    2017-11-17

    Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3. Hazard ratios (HRs) were calculated using a weighted Cox regression analysis to correct for ascertainment bias. Discrimination was assessed with a concordance statistic in a bootstrap cross-validation procedure. Individual SNPs only had non-significant associations with CRC occurrence with HRs lower than 2, although male carriers of allele A at rs1321311 (6p21.31) may have increased risk of CRC (HR = 2.1, 95% CI 1.2-3.0). A polygenic risk score (PRS) based on 24 HRs had an HR of 2.6 (95% CI 1.5-4.6) for the highest compared to the lowest quartile, but had no discriminative ability (c statistic 0.52). Previously suggested SNPs do not modify CRC risk in PMS2 carriers. Future large studies are needed for improved risk stratification among Lynch syndrome patients.

  2. Lynch syndrome in South America: past, present and future.

    Science.gov (United States)

    Vaccaro, Carlos A; Sarroca, Carlos; Rossi, Benedito; Lopez-Kostner, Francisco; Dominguez, Mev; Calo, Natalia Causada; Cutait, Raul; Valle, Adriana Della; Nuñez, Lina; Neffa, Florencia; Alvarez, Karin; Gonzalez, Maria Laura; Kalfayan, Pablo; Lynch, Henry T; Church, James

    2016-07-01

    After decades of unawareness about Lynch syndrome, the medical community in South America is increasingly interested and informed. The visits and support of mentors like H. T. Lynch had been crucial to this awakening. Several countries have at least one registry with skilled personnel in genetic counseling and research. However, this only represents a very restricted resource for the region. According to the GETH, there are 27 hereditary cancer care centers in South America (21 in Brazil, 3 in Argentina, 1 in Uruguay, 1 in Chile and 1 in Peru). These registries differ in fundamental aspects of function, capabilities and funding, but are able to conduct high quality clinical, research and educational activities due to the dedication and personal effort of their members, and organizational support. More support from the governments as well as the participation of the community would boost the initiatives of people leading these groups. Meantime, the collaboration among the South American registries and the involvement of registries and leaders from developed countries will allow to maximize the efficiency in caring for affected patients and their families. The aim of this article is to describe how the knowledge of LS began to be spread in South America, how the first registries were organized and to summarize the current state of progress. In addition, we will provide an update of the clinical and molecular findings in the region.

  3. Brine migration resulting from pressure increases in a layered subsurface system

    Science.gov (United States)

    Delfs, Jens-Olaf; Nordbeck, Johannes; Bauer, Sebastian

    2016-04-01

    Brine originating from the deep subsurface impairs parts of the freshwater resources in the North German Basin. Some of the deep porous formations (esp. Trias and Jurassic) exhibit considerable storage capacities for waste fluids (CO2, brine from oil production or cavern leaching), raising concerns among water providers that this type of deep subsurface utilization might impair drinking water supplies. On the one hand, overpressures induced by fluid injections and the geothermal gradient support brine migration from deep into shallow formations. On the other hand, the rising brine is denser than the surrounding less-saline formation waters and, therefore, tends to settle down. Aim of this work is to investigate the conditions under which pressurized formation brine from deep formations can reach shallow freshwater resources. Especially, the role of intermediate porous formations between the storage formation and the groundwater is studied. For this, complex thermohaline simulations using a coupled numerical process model are necessary and performed in this study, in which fluid density depends on fluid pressure, temperature and salt content and the governing partial differential equations are coupled. The model setup is 2D and contains a hypothetic series of aquifers and barriers, each with a thickness of 200 m. Formation pressure is increased at depths of about 2000 m in proximity to a salt wall and a permeable fault. The domain size reaches up to tens of kilometers horizontally to the salt wall. The fault connects the injection formation and the freshwater aquifer such that conditions can be considered as extremely favorable for induced brine migration (worst case scenarios). Brine, heat, and salt fluxes are quantified with reference to hydraulic permeabilities, storage capacities (in terms of domain size), initial salt and heat distribution, and operation pressures. The simulations reveal the development of a stagnation point in the fault region in each

  4. Cost-effective bioregeneration of nitrate-laden ion exchange brine through deliberate bicarbonate incorporation.

    Science.gov (United States)

    Li, Qi; Huang, Bin; Chen, Xin; Shi, Yi

    2015-05-15

    Bioregeneration of nitrate-laden ion exchange brine is desired to minimize its environmental impacts, but faces common challenges, i.e., enriching sufficient salt-tolerant denitrifying bacteria and stabilizing brine salinity and alkalinity for stable brine biotreatment and economically removing undesired organics derived in biotreatment. Incorporation of 0.25 M bicarbonate in 0.5 M chloride brine little affected resin regeneration but created a benign alkaline condition to favor bio-based brine regeneration. The first-quarter sulfate-mainly enriched spent brine (SB) was acidified with carbon source acetic acid for using CaCl2 at an efficiency >80% to remove sulfate. Residual Ca(2+) was limited below 2 mM by re-mixing the first-quarter and remained SB to favor denitrification. Under [Formula: see text] system buffered pH condition (8.3-8.8), nitrate was removed at 0.90 gN/L/d by hematite-enriched well-settled activated sludge (SVI 8.5 ml/g) and the biogenic alkalinity was retained as bicarbonate. The biogenic alkalinity met the need of alkalinity in removing residual Ca(2+) after sulfate removal and in CaCl2-induced CaCO3 flocculation to remove 63% of soluble organic carbon (SOC) in biotreated brine. Carbon-limited denitrification was also operated after activated sludge acclimation with sulfide to cut SOC formation during denitrification. Overall, this bicarbonate-incorporation approach, stabilizing the brine salinity and alkalinity for stable denitrification and economical removal of undesired SOC, suits long-term cost-effective brine bioregeneration. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. A network model for characterizing brine channels in sea ice

    Science.gov (United States)

    Lieblappen, Ross M.; Kumar, Deip D.; Pauls, Scott D.; Obbard, Rachel W.

    2018-03-01

    The brine pore space in sea ice can form complex connected structures whose geometry is critical in the governance of important physical transport processes between the ocean, sea ice, and surface. Recent advances in three-dimensional imaging using X-ray micro-computed tomography have enabled the visualization and quantification of the brine network morphology and variability. Using imaging of first-year sea ice samples at in situ temperatures, we create a new mathematical network model to characterize the topology and connectivity of the brine channels. This model provides a statistical framework where we can characterize the pore networks via two parameters, depth and temperature, for use in dynamical sea ice models. Our approach advances the quantification of brine connectivity in sea ice, which can help investigations of bulk physical properties, such as fluid permeability, that are key in both global and regional sea ice models.

  6. Prevalence of small-bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy

    NARCIS (Netherlands)

    Haanstra, Jasmijn F.; Al-Toma, Abdul; Dekker, Evelien; Vanhoutvin, Steven A. L. W.; Nagengast, Fokko M.; Mathus-Vliegen, Elisabeth M.; van Leerdam, Monique E.; de Vos tot Nederveen Cappel, Wouter H.; Sanduleanu, Silvia; Veenendaal, Roeland A.; Cats, Annemieke; Vasen, Hans F. A.; Kleibeuker, Jan H.; Koornstra, Jan J.

    2015-01-01

    The aim was to determine the prevalence of small-bowel neoplasia in asymptomatic patients with Lynch syndrome (LS) by video capsule endoscopy (VCE). After obtaining informed consent, asymptomatic proven gene mutation carriers aged 35-70 years were included in this prospective multicentre study in

  7. Modeling of brine migration in halite

    International Nuclear Information System (INIS)

    Cheung, H.; Fuller, M.E.; Gaffney, E.S.

    1979-01-01

    When canisters containing radwastes are emplaced in a repository the heat produced by the decaying radwaste will cause moderate thermal gradients to develop which will cause the brine present in a halite medium (salt deposits) to accumulate around the canister. Four different models of the migration process have been reviewed to determine their suitability as a working model. One model predicts that inclusions smaller than 0.1 mm dimension probably will not migrate. The other models do not consider size as a factor. Thermal diffusion (Soret effect) is considered insignificant in three models, while in the fourth model it is added to the concentration diffusion term. The following conclusions can be made: Temperature is the most significant parameter in all models and must be known as a function of time, and distance from the canister. All four models predict about the same migration velocity for it is a given set of conditions; for 100 0 C and 1 0 C/cm thermal gradient, it is 3.0, 4.8, 5.6 and 6.4 mm/y. Diffusion of ions through the brine inclusions is the rate controlling mechanism. The difference between the thermal gradients in the liquid and in the solid should always be considered and is a function of droplet shape. The model based upon work by Nernst is easiest to use, but it predicts the lowest migration rate. The maximum volume of pure brine accumulated at the canister surface would be less than 20-40 liters in 50 years, for a canister initial thermal power of 3.5 kW.Bitterns would migrate proportionately less volume. A computer code, BRINE, was developed to make these calculations by means of any of the four models

  8. Geochemistry of Salado formation brines recovered from the Waste Isolation Pilot Plant (WIPP) repository

    International Nuclear Information System (INIS)

    Abitz, R.; Myers, J.; Drez, P.; Deal, D.

    1990-01-01

    Intergranular brines recovered from the repository horizon of the Waste Isolation Pilot Plant (WIPP) have major- and trace-element compositions that reflect seawater evaporation and diagenetic processes. Brines obtained from repository drill holes are heterogeneous with respect to composition but their compositional fields are distinct from those obtained from fluid inclusions in WIPP halite. The heterogeneity of brine compositions within the drill-hole population indicates a lack of mixing and fluid homogenization within the salt at the repository level. Compositional differences between intergranular (drill hole) and intragranular (fluid inclusions) brines is attributed to isolation of the latter from diagenetic fluids that were produced from dehydration reactions involving gypsum and clay minerals. Modeling of brine-rock equilibria indicates that equilibration with evaporite minerals controls the concentrations of major elements in the brine. Drill-hole brines are in equilibrium with the observed repository minerals halite, anhydrite, magnesite, polyhalite and quartz. The equilibrium model supports the derivation of drill-hole brines from near-field fluid, rather than large-scale vertical migration of fluids from the overlying Rustler or underlying Castile Formations. 13 refs., 6 figs., 6 tabs

  9. Geochemistry of Salado Formation brines recovered from the Waste Isolation Pilot Plant (WIPP) repository

    International Nuclear Information System (INIS)

    Abitz, R.; Myers, J.; Drez, P.; Deal, D.

    1990-01-01

    Intergranular brines recovered from the repository horizon of the Waste Isolation Pilot Plant (WIPP) have major- and trace-element compositions that reflect seawater evaporation and diagenetic processes. Brines obtained from repository drill holes are heterogenous with respect to composition, but their compositional fields are distinct from those obtained from fluid inclusions in WIPP halite. The heterogeneity of brine compositions within the drill-hole population indicates a lack of mixing and fluid homogenization within the salt at the repository level. Compositional differences between intergranular (drill hole) and intragranular (fluid inclusions) brines is attributed to isolation of the latter from diagenetic fluids that were produced from dehydration reactions involving gypsum and clay minerals. Modeling of brine-rock equilibria indicates that equilibration with evaporite minerals controls the concentrations of major elements in the brine. Drill-hole brines are in equilibrium with the observed repository minerals halite, anhydrite, magnesite, polyhalite and quartz. The equilibrium model supports the derivation of drill-hole brines from near-field fluid, rather than large-scale vertical migration of fluids from the overlying Rustler or underlying Castile Formations. 13 refs., 6 figs., 6 tabs

  10. Stability of polyvinyl alcohol-coated biochar nanoparticles in brine

    Energy Technology Data Exchange (ETDEWEB)

    Griffith, Christopher, E-mail: cgriffith@utexas.edu; Daigle, Hugh [University of Texas at Austin, Department of Petroleum and Geosystems Engineering (United States)

    2017-01-15

    This paper reports on the dispersion stability of 150 nm polyvinyl alcohol coated biochar nanoparticles in brine water. Biochar is a renewable, carbon based material that is of significant interest for enhanced oil recovery operations primarily due to its wide ranging surface properties, low cost of synthesis, and low environmental toxicity. Nanoparticles used as stabilizing agents for foams (and emulsions) or in nanofluids have emerged as potential alternatives to surfactants for subsurface applications due to their improved stability at reservoir conditions. If, however, the particles are not properly designed, they are susceptible to aggregation because of the high salinity brines typical of oil and gas reservoirs. Attachment of polymers to the nanoparticle surface, through covalent bonds, provides steric stabilization, and is a necessary step. Our results show that as the graft density of polyvinyl alcohol increases, so too does the stability of nanoparticles in brine solutions. A maximum of 34 wt% of 50,000 Da polyvinyl alcohol was grafted to the particle surface, and the size of the particles was reduced from ~3500 nm (no coating) to 350 nm in brine. After 24 h, the particles had a size of ~500 nm, and after 48 h completely aggregated. 100,000 Da PVA coated at 24 wt% on the biochar particles were stable in brine for over 1 month with no change in mean particle size of ~330 nm.

  11. A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lynch syndrome.

    Science.gov (United States)

    Yamaguchi, Junya; Sato, Yuri; Kita, Mizuho; Nomura, Sachio; Yamamoto, Noriko; Kato, Yo; Ishikawa, Yuichi; Arai, Masami

    2015-10-01

    Lynch syndrome is an autosomal dominantly inherited disease that is characterized by a predisposition to cancers, mainly colorectal cancer. Germline mutations of DNA mismatch repair genes such as MLH1, MSH2, MSH6 and PMS2 have been described in patients with Lynch syndrome. Here, we report deletion of 2 bp in the splice donor site of the MLH1 exon 6 (c.545+4_545+5delCA) in a 48-year-old Japanese woman with Lynch syndrome. RT-PCR direct sequencing analysis revealed that this mutation led to an increase in the level of an MLH1 transcript in which exon 6 was skipped, and may cause a frameshift (p.E153FfsX8). Therefore, this mutation appears to be pathogenic and is responsible for Lynch syndrome. Additionally, analysis of the patient's tumor cells indicated microsatellite instability high phenotype and loss of the MLH1 and PMS2 proteins. To our knowledge, this is a germline splice site mutation of MLH1 that has not been reported previously. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  12. Solubility of Nd in brine

    International Nuclear Information System (INIS)

    Khalili, F.I.; Symeopoulos, V.; Chen, J.F.; Choppin, G.R.

    1994-01-01

    The solubility of Nd(III) has been measured at 23±3 C in a synthetic brine at pcH 6.4, 8.4, 10.4 and 12.4. The brine consisted predominantly of (Na+K)Cl and MgCl 2 with an ionic strength of 7.8 M (9.4 m) a solid compound of Nd(III) at each pcH was assigned from X-ray diffraction patterns. The log values of the experimental solubilities decrease fomr -3 at pcH 6.4 to -5.8 at pcH 8.4; at pcH 10.4 and 12.4 the solubility was below the detection limit of -7.5. The experimental solubility does not follow closely the variation with pcH estimated from modeling of the species in solution in equilibrium with the Nd solid using S.I.T. (orig.)

  13. Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.

    Science.gov (United States)

    Cariola, Filomena; Disciglio, Vittoria; Valentini, Anna M; Lotesoriere, Claudio; Fasano, Candida; Forte, Giovanna; Russo, Luciana; Di Carlo, Antonio; Guglielmi, Floranna; Manghisi, Andrea; Lolli, Ivan; Caruso, Maria L; Simone, Cristiano

    2018-04-01

    Lynch syndrome is caused by germline mutations in one of the mismatch repair genes ( MLH1, MSH2, MSH6, and PMS2) or in the EPCAM gene. Lynch syndrome is defined on the basis of clinical, pathological, and genetic findings. Accordingly, the identification of predisposing genes allows for accurate risk assessment and tailored screening protocols. Here, we report a family case with three family members manifesting the Lynch syndrome phenotype, all of which harbor the rare variant c.2635-2A>G affecting the splice site consensus sequence of intron 15 of the MSH2 gene. This mutation was previously described only in one family with Lynch syndrome, in which mismatch repair protein expression in tumor tissues was not assessed. In this study, we report for the first time the molecular characterization of the MSH2 c.2635-2A>G variant through in silico prediction analysis, microsatellite instability, and mismatch repair protein expression experiments on tumor tissues of Lynch syndrome patients. The potential effect of the splice site variant was revealed by three splicing prediction bioinformatics tools, which suggested the generation of a new cryptic splicing site. The potential pathogenic role of this variant was also revealed by the presence of microsatellite instability and the absence of MSH2/MSH6 heterodimer protein expression in the tumor cells of cancer tissues of the affected family members. We provide compelling evidence in favor of the pathogenic role of the MSH2 variant c.2635-2A>G, which could induce an alteration of the canonical splice site and consequently an aberrant form of the protein product (MSH2).

  14. Brine migrations in the Athabasca Basin platform, alteration and associated fluid-rock exchanges

    International Nuclear Information System (INIS)

    Mercadier, J.; Cathelineau, M.; Richard, A.; Boiron, M.Ch.; Cuney, M.; Milesi, J.P.

    2009-01-01

    Uranium deposits of Athabasca Basin (Saskatchewan, Canada) are considered as the richest in the world. They result from massive percolation of basin brines in the underlying platform. The authors describe the brine movements and how structures and micro-fractures promoted this percolation until very important depths (hundreds of meters under the discordance), and their chemical modifications as they interacted with platform rocks, thus promoting the transformation of an initially sodic brine into a uranium-enriched calcic brine which is essential to the formation of discordance-type deposit

  15. Domal salt brine migration experiments at Avery Island, Louisiana

    International Nuclear Information System (INIS)

    Krause, W.B.; Gnirk, P.F.

    1981-01-01

    Three in-situ brine migration experiments were performed in domal salt in the Avery Island mine located in southwestern Louisiana. The primary measurements included temperature, moisture collection, and pre- and post-test permeability at the experimental sites. Experimental data are discussed and compared with calculations based on the single-crystal brine migration theory. Comparisons indicate reasonable agreement between experiment and theory

  16. Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

    NARCIS (Netherlands)

    Sijmons, Rolf H.; Greenblatt, Marc S.; Genuardi, Maurizio

    Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive results for DNA Mismatch Repair (MMR) genes reporting DNA changes that are unclear from a clinical point of view. These changes are referred to as variants of unknown, or unclear, clinical significance

  17. A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer).

    Science.gov (United States)

    Zhu, Viola W; Hinduja, Sanjay; Knezevich, Stevan R; Silveira, William R; DeLozier, Celia D

    2017-07-01

    Lynch syndrome (hereditary nonpolyposis colorectal cancer) is an autosomal dominant disorder characterized by a significant risk of colorectal and endometrial cancers. A variety of other epithelial cancers may be associated with this syndrome. Brian tumors are infrequent, but have been reported in series. Here, we report a case of a 34-year-old Caucasian woman with WHO grade III choroid plexus carcinoma (CPC). Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53. Family history is significant for endometrial cancer in her mother and sister as well as colon cancer in her maternal grandfather suggestive of Lynch syndrome. Site-specific mutational analysis showed the MSH6 mutation (p.R482*) in peripheral lymphocytes. Subsequently we performed immunohistochemical staining of the tumor tissue which demonstrated widespread loss of MSH6 with intact MSH2, MLH1, and PMS2. The diagnosis of Lynch syndrome due to a mutation in MSH6 was therefore established. Our patient elected to have adjuvant radiation to the surgical bed only followed by prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy and is doing very well. To our knowledge, this is the first case report of CPC in an adult patient with a germline MSH6 mutation. We believe our data have provided molecular evidence to suggest that CPC could potentially be part of the Lynch syndrome spectrum. Published by Elsevier B.V.

  18. Effects of brine migration on waste storage systems. Final report

    International Nuclear Information System (INIS)

    Gaffney, E.S.; Nickell, R.E.

    1979-01-01

    Processes which can lead to mobilization of brine adjacent to spent fuel or nuclear waste canisters and some of the thermomechanical consequences have been investigated. Velocities as high as 4 x 10 -7 m s -1 (13 m y -1 ) are calculated at the salt/canister boundary. As much as 40 liters of pure NaCl brine could accumulate around each canister during a 10-year storage period. Accumulations of bittern brines would probably be less, in the range of 2 to 5 liters. With 0.5% water, NaCl brine accumulation over a 10-year storage cycle around a spent fuel canister producing 0.6 kW of heat is expected to be less than 1 liter for centimeter-size inclusions and less than 0.5 liter for millimeter-size inclusions. For bittern brines, about 25 years would be required to accumulate 0.4 liter. The most serious mechanical consequence of brine migration would be the increased mobility of the waste canister due to pressure solution. In pressure solution enhanced deformation, the existence of a thin film of fluid either between grains or between media (such as between a canister and the salt) provides a pathway by which the salt can be redistributed leading to a marked increase in strain rates in wet rock relative to dry rock. In salt, intergranular water will probably form discontinuous layers rather than films so that they would dominate pressure solution. A mathematical model of pressure solution indicates that pressure solution will not lead to appreciable canister motions except possibly in fine grained rocks (less than 10 -4 m). In fine grained salts, details of the contact surface between the canister and the salt bed may lead to large pressure solution motions. A numerical model indicates that heat transfer in the brine layer surrounding a spent fuel canister is not conduction dominated but has a significant convective component

  19. Alcohol Brine Freezing of Japanese Horse Mackerel (Trachurus japonicus) for Raw Consumption

    Science.gov (United States)

    Maeda, Toshimichi; Yuki, Atsuhiko; Sakurai, Hiroshi; Watanabe, Koichiro; Itoh, Nobuo; Inui, Etsuro; Seike, Kazunori; Mizukami, Yoichi; Fukuda, Yutaka; Harada, Kazuki

    In order to test the possible application of alcohol brine freezing to Japanese horse mackerel (Trachurus japonicus) for raw consumption, the quality and taste of fish frozen by direct immersion in 60% ethanol brine at -20, -25 and -30°C was compared with those by air freezing and fresh fish without freezing. Cracks were not found during the freezing. Smell of ethanol did not remain. K value, an indicator of freshness, of fish frozen in alcohol brine was less than 8.3%, which was at the same level as those by air freezing and fresh fish. Oxidation of lipid was at the same level as air freezing does, and lower than that of fresh fish. The pH of fish frozen in alcohol brine at -25 and -30°C was 6.5 and 6.6, respectively, which were higher than that by air freezing and that of fresh fish. Fish frozen in alcohol brine was better than that by air and at the same level as fresh fish in total evaluation of sensory tests. These results show that the alcohol brine freezing is superior to air freezing, and fish frozen in alcohol brine can be a material for raw consumption. The methods of thawing in tap water, cold water, refrigerator, and at room temperature were compared. Thawing in tap water is considered to be convenient due to the short thaw time and the quality of thawed fish that was best among the methods.

  20. Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.

    Science.gov (United States)

    Ryan, Neil A J; Morris, Julie; Green, Kate; Lalloo, Fiona; Woodward, Emma R; Hill, James; Crosbie, Emma J; Evans, D Gareth

    2017-12-01

    Lynch syndrome is caused by dominantly inherited germline mutations that predispose individuals to colorectal, endometrial, ovarian, and other cancers through inactivation of the cellular mismatch repair system. Lynch syndrome–associated cancers are amenable to surveillance strategies that may improve survival. The age at which surveillance should start is disputed. To determine whether mutated gene and type of mutation influence age at onset of Lynch syndrome–associated cancers. A retrospective cohort study of individuals with Lynch syndrome–associated colorectal, endometrial, and/or ovarian cancers whose medical records were included in the clinical database of a large quaternary referral center for genomic medicine in the Northwest of England. Mutated gene (MLH1, MSH2, MSH6, and/or PMS2) and type of mutation (truncating, splicing, or large rearrangement). Age at cancer diagnosis. A total of 1063 individuals with proven Lynch syndrome were included, 495 male and 568 female (mean age 52 years; age range, 10-93 years [children were included in the database, but no children developed cancer]). There were 546 men and women with colorectal cancer, 162 women with endometrial cancer, and 49 women with ovarian cancer; mean follow-up was 68.2 months. Among MLH1 mutation carriers, mutations in MLH1 were associated with colorectal cancer in 249 (61%) of 409 men and women; endometrial cancer in 53 of 196 (27%) women; and ovarian cancer in 15 (8%) of 196 women. Among MSH2 mutation carriers, mutations in MSH2 (the most prevalent mutations overall) were most commonly associated with female-specific cancers: endometrial cancer in 83 (30%) of 279 women; ovarian cancer in 28 (10%) of 279 women; and colorectal cancer in 239 (50%) 479 men and women. Mutations in MSH6 were less prevalent, and MSH6 mutation carriers presented with colorectal and endometrial cancer at later ages than carriers of mutations in MSH2 or MLH1. When stratified by mutation type, women with truncating

  1. Distribution of Cathepsin D Activity between Lysosomes and a Soluble Fraction of Marinating Brine.

    Science.gov (United States)

    Szymczak, Mariusz

    2016-08-01

    This paper is the first ever to describe the phenomenon of bimodal distribution of cathepsin D in the lysosomal and soluble fractions of brine left after herring marinating. Up to 2 times higher cathepsin D activity was observed in the lysosome fraction. Activity of cathepsin D in brine increased according to the logarithmic function during low frequency-high power ultrasounds treatment or according to the linear function after multiple freezing-thawing of brine. Activity enhancement was achieved only in the brine devoid of lipids and suspension. Study results show also that measurement of lysosomal cathepsin D activity in the marinating brine requires also determining cathepsin E activity. Decreasing pore size of microfilter from 2.7 to 0.3 μm significantly reduced the lysosome content in the brine. The presence of lysosomes and the possibility of their separation as well as the likely release of cathepsins shall be considered during industrial application of the marinating brine, as new cathepsins preparations in fish and meat technology. © 2016 Institute of Food Technologists®

  2. A carbon inventory for Orca Basin brines and sediments

    International Nuclear Information System (INIS)

    Sackett, W.M.; Brooks, J.M.; Bernard, B.B.; Schwab, C.R.; Chung, H.; Parker, R.A.

    1979-01-01

    Orca Basin, an intraslope depression at a depth of about 2400 m on the continental slope of the north-central Gulf of Mexico, contains an anoxic, hypersaline brine similar to composition to those reported in the Red Sea. Concentrations and stable carbon isotope compositions of various inorganic and organic carbon species have been determined on the brine and sediments in order to gain an understanding of the origin and cycling of carbon in this unique environment. ΣCO 2 in the brine (55 mg C/l) is about twice seawater with delta 13 C sub(PDB)=-16.4per thousand and Δ 14 C=-501per thousand. CH 4 has a concentration of 12 mg C/l and delta 13 C=-73.5per thousand. Dissolved and particulate organic carbon concentrations are seven times higher and have delta 13 C values several permil different than the overlying seawater, ΣCO 2 and CH 4 in the interstitial waters are considerably higher in concentrations and isotropically light than the overlying brine. Solution of near-surface salt deposits by seawater with subsequent microbial production and consumption of methane can be used to explain most of the data. (Auth.)

  3. Threshold temperature gradient effect on migration of brine inclusions in salt

    International Nuclear Information System (INIS)

    Pigford, T.H.

    1987-01-01

    Theories of the migration of brine inclusions in salt were interpreted as simple physical processes, and theories by Russian and US workers were shown to yield the same results. The migration theory was used to predict threshold temperature gradients below which migration of brine inclusions should not occur. The predicted threshold gradients were compared with the temperature gradients expected at the Waste Isolation Pilot Plant in New Mexico. The theory of threshold gradients helps explain the existence of brine inclusions in natural salt deposits

  4. Scanning electron microscope observations of brine shrimp larvae from space shuttle experiments

    Science.gov (United States)

    DeBell, L.; Paulsen, A.; Spooner, B.

    1992-01-01

    Brine shrimp are encysted as gastrula stage embryos, and may remain dehydrated and encysted for years without compromising their viability. This aspect of brine shrimp biology is desirable for studying development of animals during space shuttle flight, as cysts placed aboard a spacecraft may be rehydrated at the convenience of an astronaut, guaranteeing that subsequent brine shrimp development occurs only on orbit and not on the pad during launch delays. Brine shrimp cysts placed in 5 ml syringes were rehydrated with salt water and hatched during a 9 day space shuttle mission. Subsequent larvae developed to the 8th larval stage in the sealed syringes. We studied the morphogenesis of the brine shrimp larvae and found the larvae from the space shuttle experiments similar in rate of growth and extent of development, to larvae grown in sealed syringes on the ground. Extensive differentiation and development of embryos and larvae can occur in a microgravity environment.

  5. Study of thermal-gradient-induced migration of brine inclusions in salt. Final report

    International Nuclear Information System (INIS)

    Olander, D.R.

    1984-08-01

    Natural salt deposits, which are being considered for high-level waste disposal, contain a small volume fraction of water in the form of brine inclusions distributed throughout the salt. Radioactive decay heating of the nuclear wastes will impose a temperature gradient on the surrounding salt which mobilizes the brine inclusions. Inclusions filled completely with brine (the all-liquid inclusions) migrate up the temperature gradient and eventually accumulate brine near the buried waste forms. The brine may slowly corrode or degrade the waste forms, which is undesirable. Therefore it is important to consider the migration of brine inclusions in salt under imposed temperature gradients to properly evaluate the performance of a future salt repository for nuclear wastes. The migration velocities of the inclusions were found to be dependent on temperature, temperature gradient, and inclusion shape and size. The velocities were also dictated by the interfacial mass transfer resistance at brine/solid interface. This interfacial resistance depends on the dislocation density in the crystal, which in turn, depends on the axial compressive loading of the crystal. At low axial loads, the dependence between the velocity and temperature gradient is nonlinear. At high axial loads, the interfacial resistance is reduced and the migration velocity depends linearly on the temperature gradient. All-liquid inclusions filled with mixed brines were also studied. For gas-liquid inclusions, helium, air and argon were compared. Migration studies were also conducted on single crystallites of natural salt as well as in polycrystalline natural salt samples. The behavior of the inclusions at large-ange grain boundaries was observed

  6. Study of thermal-gradient-induced migration of brine inclusions in salt. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Olander, D.R.

    1984-08-01

    Natural salt deposits, which are being considered for high-level waste disposal, contain a small volume fraction of water in the form of brine inclusions distributed throughout the salt. Radioactive decay heating of the nuclear wastes will impose a temperature gradient on the surrounding salt which mobilizes the brine inclusions. Inclusions filled completely with brine (the all-liquid inclusions) migrate up the temperature gradient and eventually accumulate brine near the buried waste forms. The brine may slowly corrode or degrade the waste forms, which is undesirable. Therefore it is important to consider the migration of brine inclusions in salt under imposed temperature gradients to properly evaluate the performance of a future salt repository for nuclear wastes. The migration velocities of the inclusions were found to be dependent on temperature, temperature gradient, and inclusion shape and size. The velocities were also dictated by the interfacial mass transfer resistance at brine/solid interface. This interfacial resistance depends on the dislocation density in the crystal, which in turn, depends on the axial compressive loading of the crystal. At low axial loads, the dependence between the velocity and temperature gradient is nonlinear. At high axial loads, the interfacial resistance is reduced and the migration velocity depends linearly on the temperature gradient. All-liquid inclusions filled with mixed brines were also studied. For gas-liquid inclusions, helium, air and argon were compared. Migration studies were also conducted on single crystallites of natural salt as well as in polycrystalline natural salt samples. The behavior of the inclusions at large-ange grain boundaries was observed.

  7. Enhanced Brine Dewatering System, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — The purpose of the Enhanced Brine Dewatering System (EBDS) is to provide an easily scalable means of completely recovering usable water from byproducts created by...

  8. Enhanced Brine Dewatering System, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — The purpose of the Enhanced Brine Dewatering System (EBDS) is to provide a scalable means of completely recovering usable water from byproducts created by reverse...

  9. Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome.

    Science.gov (United States)

    Salo-Mullen, Erin E; Lynn, Patricio B; Wang, Lu; Walsh, Michael; Gopalan, Anuradha; Shia, Jinru; Tran, Christina; Man, Fung Ying; McBride, Sean; Schattner, Mark; Zhang, Liying; Weiser, Martin R; Stadler, Zsofia K

    2018-01-01

    Lynch syndrome is an autosomal dominant condition caused by pathogenic mutations in the DNA mismatch repair (MMR) genes. Although commonly associated with clinical features such as intellectual disability and congenital anomalies, contiguous gene deletions may also result in cancer predisposition syndromes. We report on a 52-year-old male with Lynch syndrome caused by deletion of chromosome 2p16.3-p21. The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression. Family history was unrevealing. Physical exam revealed short stature, brachycephaly with a narrow forehead and short philtrum, brachydactyly of the hands, palmar transverse crease, broad and small feet with hyperpigmentation of the soles. The patient underwent total colectomy with ileorectal anastomosis for a pT3N1 sigmoid adenocarcinoma. Germline genetic testing of the MSH2, MSH6, and EPCAM genes revealed full gene deletions. SNP-array based DNA copy number analysis identified a deletion of 4.8 Mb at 2p16.3-p21. In addition to the three Lynch syndrome associated genes, the deleted chromosomal section encompassed genes including NRXN1, CRIPT, CALM2, FBXO11, LHCGR, MCFD2, TTC7A, EPAS1, PRKCE, and 15 others. Contiguous gene deletions have been described in other inherited cancer predisposition syndromes, such as Familial Adenomatous Polyposis. Our report and review of the literature suggests that contiguous gene deletion within the 2p16-p21 chromosomal region is a rare cause of Lynch syndrome, but presents with distinct phenotypic features, highlighting the need for recognition and awareness of this syndromic entity.

  10. Family perspectives in lynch syndrome becoming a family at risk, patterns of communication and influence on relations

    Directory of Open Access Journals (Sweden)

    Bartuma Katarina

    2012-05-01

    Full Text Available Abstract Background A growing number of individuals are diagnosed with hereditary cancer. Though increased levels of anxiety and depression have been demonstrated around the time of genetic counselling, most individuals handle life at increased risk well. Data have, however, been collected on individual basis, which led us to focus on family perspectives of hereditary cancer. Methods Lynch syndrome represents a major type of hereditary colorectal and gynaecological cancer. We preformed open-ended interviews with 27 informants from 9 Lynch syndrome families. Inductive content analysis revealed three major themes: transition to a risk family, patterns of communication and influence on family relations and individual roles. Results Family members described how learning about Lynch syndrome shifted focus from daily issues to concerns about cancer. Changes in communication related to difficulties in talking to children about heredity and informing new family members and distant relatives about an increased risk of cancer. Influence on relations was exemplified by family members taking on different roles, e.g. females often being responsible for coordinating information about heredity and providing support. Families in which members had experienced cancer at young age typically informed children soon after learning about heredity and at young age, whereas families with experience of cancer at higher age postponed information and thereby also genetic counselling. Conclusions Three major family perspectives are described in Lynch syndrome families; becoming a risk family, patterns of communication and influence on family relations. Since these issues are central, our findings suggests that such family perspectives should be considered during genetic counselling in order to contribute to information spread, help family members cope with the increased risk, and motivate family members at risk to undergo surveillance.

  11. Evaluation and analysis of underground brine resources in the southern coastal area of Laizhou Bay

    Science.gov (United States)

    Tian, M.; Zhu, H. T.; Feng, J.; Zhao, Q. S.

    2016-08-01

    The southern coastal districts of Laizhou Bay are some of the most important areas for underground brine exploitation in Shandong Province. Recently, these areas have been gradually developed by the underground brine mining industry. Such economic interest has led to brine exploitation so that underground brine resources are running out. Based on this phenomenon, this study describes the supply, runoff and draining conditions of the area by collecting and organizing the background information of the studied area. Hydrogeological parameters are then calculated according to pumping tests, and the amount of sustainable resources in the coastal areas of the Southern Bank of Laizhou Bay are then calculated based on the uniform distribution of wells. Under the circumstances of underground brine mining, the exploitation potential of the underground brine is evaluated in accordance with the calculation results of exploitation quantum. Finally, suggestions are provided for the sustainable exploitation of underground brine in the area.

  12. Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

    Science.gov (United States)

    Morak, Monika; Koehler, Udo; Schackert, Hans Konrad; Steinke, Verena; Royer-Pokora, Brigitte; Schulmann, Karsten; Kloor, Matthias; Höchter, Wilhelm; Weingart, Josef; Keiling, Cortina; Massdorf, Trisari; Holinski-Feder, Elke

    2011-08-01

    A positive family history, germline mutations in DNA mismatch repair genes, tumours with high microsatellite instability, and loss of mismatch repair protein expression are the hallmarks of hereditary non-polyposis colorectal cancer (Lynch syndrome). However, in ~10-15% of cases of suspected Lynch syndrome, no disease-causing mechanism can be detected. Oligo array analysis was performed to search for genomic imbalances in patients with suspected mutation-negative Lynch syndrome with MLH1 deficiency in their colorectal tumours. A deletion in the LRRFIP2 (leucine-rich repeat flightless-interacting protein 2) gene flanking the MLH1 gene was detected, which turned out to be a paracentric inversion on chromosome 3p22.2 creating two new stable fusion transcripts between MLH1 and LRRFIP2. A single-nucleotide polymorphism in MLH1 exon 8 was expressed from both alleles, initially pointing to appropriate MLH1 function at least in peripheral cells. In a second case, an inherited duplication of the MLH1 gene region resulted in constitutional MLH1 promoter methylation. Constitutional MLH1 promoter methylation may therefore in rare cases be a heritable disease mechanism and should not be overlooked in seemingly sporadic patients.

  13. Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch syndrome carriers

    NARCIS (Netherlands)

    Vrieling, A.; Visser, A.; Hoedjes, Meeke; Hurks, H.M.H.; Gómez García, E.; Hoogerbrugge, N.; Kampman, E.

    2018-01-01

    Lynch syndrome (LS) mutation carriers may reduce their cancer risk by adhering to lifestyle recommendations for cancer prevention. This study tested the effect of providing LS mutation carriers with World Cancer Research Fund-the Netherlands (WCRF-NL) health promotion materials on awareness and

  14. Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing.

    Science.gov (United States)

    Hitch, Kelly; Joseph, Galen; Guiltinan, Jenna; Kianmahd, Jessica; Youngblom, Janey; Blanco, Amie

    2014-08-01

    Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual's genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return results to patients. Patients (n = 19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative Lynch syndrome genetic results through traditional molecular testing methods participated in semi-structured interviews after WES testing but before return of results to explore their views of WES and preferences for return of results. Analyses of interview results found that nearly all participants believed that the benefits of receiving all possible results generated from WES outweighed the undesirable effects. The majority of participants conveyed that relative to coping with a cancer diagnosis, information generated from WES would be manageable. Importantly, participants' experience with Lynch syndrome influenced their notions of genetic determinism, tolerance for uncertain results, and family communication plans. Participants would prefer to receive WES results in person from a genetic counselor or medical geneticist so that an expert could help explain the meaning and implications of the potentially large quantity and range of complicated results. These results underscore the need to study various populations with regard to the clinical use of WES in order to effectively and empathetically communicate the possible implications of this new technology and return results.

  15. Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

    Science.gov (United States)

    Lobo, João; Pinto, Carla; Freitas, Micaela; Pinheiro, Manuela; Vizcaino, Rámon; Oliva, Esther; Teixeira, Manuel R; Jerónimo, Carmen; Bartosch, Carla

    2017-03-01

    Currently, uveal melanoma is not considered within the Lynch syndrome tumor spectrum. However, there are studies suggesting a contribution of microsatellite instability in sporadic uveal melanoma tumorigenesis. We report a 45-year-old woman who was referred for genetic counseling due to a family history of Lynch syndrome caused by a MLH1 mutation. She originally underwent enucleation of the right eye secondary to a uveal spindle cell melanoma diagnosed at age 25. The tumor recurred 22 years later presenting as an ovarian metastasis and concurrently a microscopic endometrial endometrioid carcinoma, grade 1/3 was diagnosed. Subsequent studies highlighted that the uveal melanoma showed high microsatellite instability and loss of MLH1 and PMS2 protein expression, with no MLH1 promoter methylation or BRAF mutation. Additionally, a GNAQ mutation was found. We conclude that our patient's uveal melanoma is most likely related to MLH1 germline mutation and thus Lynch syndrome related. To the best of our knowledge, this is the first report of uveal melanoma showing MLH1/PMS2 protein loss in the context of Lynch syndrome.

  16. Lynch Syndrome Associated Colon Adenocarcinoma Resembling Lymphoma on Fluoro-Deoxyglucose-Positron Emission Tomography/Computed Tomography

    International Nuclear Information System (INIS)

    Aparici, Carina Mari; Win, Aung Zaw

    2015-01-01

    The patient was a 46-year-old Asian male diagnosed with lynch syndrome associated colon adenocarcinoma in the right ascending colon. A presurgical staging 18-fluoro-deoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) found increased metabolic activity in the cervical, axillary, mediastinal, supraclavicular, para-aortic and mesenteric lymph nodes. This pattern of metastasis was very unusual for lynch syndrome associated colon adenocarcinoma and the involvement of those lymph nodes resembles the pattern of spread of lymphoma. He underwent right hemicolectomy and he was subsequently treated with 12 cycles of folinic acid (leucovorin), fluorouracil (5-FU), irinotecan. A restaging FDG-PET/CT at the end of the chemotherapy showed interval decrease in size and metabolic activity in the affected lymph nodes. FDG-PET/CT is a useful imaging modality in following-up the treatment response in colon adenocarcinoma

  17. Evolution of mineralizing brines in the east Tennessee Mississippi Valley-type ore field

    Energy Technology Data Exchange (ETDEWEB)

    Kesler, S.E.; Gesink, J.A.; Haynes, F.M. (Univ. of Michingan, Ann Arbor (USA))

    1989-05-01

    The east Tennessee Mississippi Valley-type (MVT) ore field contains barite-fluorite and sphalterite deposits in a continuous paleoaquifer consisting of breccia zones in the Upper Cambrian-Lower Ordovician Knox Group. Paragenetic observations and fluid inclusion compositions in these deposits indicate that the Knox paleoaquifer was invaded first by Ca-rich brines (Ca:Na about 1) that deposited fluorite and barite, and later by Na-Ca brines (Ca:Na = 0.1 to 0.5) that deposited sphalerite. Geologic relation sindicate that these brines were derived from the southeast, in the area of the Middle Ordovician Servier foreland shale basin, and that imposed by fluorite solubility indicate further that all original connate water in the Sevier basin was required to deposit the estimated flourite reserves of the ore field.Thus, the later, sphalerite-depositing brines represent recycled meteoric water from the Sevier basin or connate brines from underlying (Cambrian) shales.

  18. Weeks Island brine diffuser site study: baseline conditions and environmental assessment technical report

    Energy Technology Data Exchange (ETDEWEB)

    None

    1980-12-12

    This technical report presents the results of a study conducted at two alternative brine diffuser sites (A and B) proposed for the Weeks Island salt dome, together with an analysis of the potential physical, chemical, and biological effects of brine disposal for this area of the Gulf of Mexico. Brine would result from either the leaching of salt domes to form or enlarge oil storage caverns, or the subsequent use of these caverns for crude oil storage in the Strategic Petroleum Reserve (SPR) program. Brine leached from the Weeks Island salt dome would be transported through a pipeline which would extend from the salt dome either 27 nautical miles (32 statute miles) for Site A, or 41 nautical miles (47 statute miles) for Site B, into Gulf waters. The brine would be discharged at these sites through an offshore diffuser at a sustained peak rate of 39 ft/sup 3//sec. The disposal of large quantities of brine in the Gulf could have a significant impact on the biology and water quality of the area. Physical and chemical measurements of the marine environment at Sites A and B were taken between September 1977 and July 1978 to correlate the existing environmental conditions with the estimated physical extent of tthe brine discharge as predicted by the MIT model (US Dept. of Commerce, 1977a). Measurements of wind, tide, waves, currents, and stratification (water column structure) were also obtained since the diffusion and dispersion of the brine plume are a function of the local circulation regime. These data were used to calculate both near- and far-field concentrations of brine, and may also be used in the design criteria for diffuser port configuration and verification of the plume model. Biological samples were taken to characterize the sites and to predict potential areas of impact with regard to the discharge. This sampling focused on benthic organisms and demersal fish. (DMC)

  19. Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis

    DEFF Research Database (Denmark)

    Hinrichsen, Inga; Brieger, Angela; Trojan, Jörg

    2013-01-01

    Lynch syndrome is caused by a germline mutation in a mismatch repair gene, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants with unclear clinical significance. The functionality of these variants can be tested in the laboratory, but the results...

  20. Inflammatory potential of the diet and colorectal tumor risk in persons with Lynch syndrome

    NARCIS (Netherlands)

    Brouwer, Jesca G.M.; Makama, Maureen; Woudenbergh, Van Geertruida J.; Vasen, Hans F.A.; Nagengast, Fokko M.; Kleibeuker, Jan H.; Kampman, Ellen; Duijnhoven, Van Fränzel J.B.

    2017-01-01

    Background: Persons with Lynch syndrome (LS) have high lifetime risk of developing colorectal tumors (CRTs) because of a germline mutation in one of their mismatch repair (MMR) genes. An important process in the development of CRTs is inflammation, which has been shown to be modulated by diet.

  1. Microbial changes and growth of Listeria monocytogenes during chilled storage of brined shrimp ( Pandalus borealis )

    DEFF Research Database (Denmark)

    Mejlholm, Ole; Kjeldgaard, J.; Modberg, A.

    2008-01-01

    Thirteen storage trials and ten challenge tests were carried out to examine microbial changes, spoilage and the potential growth of Listeria monocytogenes in brined shrimp (Pandalus borealis). Shrimp in brine as well as brined and drained shrimp in modified atmosphere packaging (MAP) were produced...... and lactic acids were studied. Furthermore, the effect of adding diacetate to brined shrimp was evaluated. A single batch of cooked and peeled shrimp was used to study both industrially and manually processed brined shrimp with respect to the effect of process hygiene on microbial changes and the shelf life...... of products. Concentrations of microorganisms on newly produced brined shrimp from an industrial scale processing line were 1.0-2.3 log (CFU g(-1)) higher than comparable concentrations in manually processed samples. This resulted in a substantially shorter shelf life and a more diverse spoilage microflora...

  2. Role for Genetic Anticipation in Lynch Syndrome

    DEFF Research Database (Denmark)

    Nilbert, Mef; Timshel, Susanne; Bernstein, Inge

    2009-01-01

    PURPOSE: Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in hereditary cancer is unclear. We assessed anticipation in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), in which DNA...... parent-child pairs in which age at the first cancer diagnosis was assessed. A paired t-test and a specifically developed bivariate model were used to assess a possible role of anticipation. RESULTS: Both methods revealed anticipation with children developing cancer mean 9.8 years (P ... parents using the paired t-test and 5.5 years (P anticipation with 7.2 years earlier age at onset was identified also in the oldest cohort, in which the children were observed until they were older than 80 years...

  3. Universal screening for Lynch syndrome in endometrial cancers: frequency of germline mutations and identification of patients with Lynch-like syndrome.

    Science.gov (United States)

    Dillon, Jessica L; Gonzalez, Jorge L; DeMars, Leslie; Bloch, Katarzyna J; Tafe, Laura J

    2017-12-01

    Lynch syndrome (LS) is an inherited clinical syndrome characterized by a high risk of colorectal, endometrial (lifetime risk of up to 60%), ovarian, and urinary tract cancers. The diagnosis is confirmed by identification of germline mutations in the DNA mismatch repair genes MLH1, PMS2, MSH2, MSH6, or EPCAM. In 2015, our institution implemented universal screening of endometrial cancer (EC) hysterectomy specimens by mismatch repair immunohistochemistry (IHC) with reflex MLH1 promoter hypermethylation analysis for tumors with loss of MLH1/PMS2 expression. Patients with tumors negative for MLH1 methylation and those with a loss of the heterodimer pair MSH2 and MSH6, or isolated loss of either PMS2 or MSH6 were referred to the Familial Cancer Program for genetic counseling and consideration of germline testing. Between May 2015 to Dec 2016, 233 EC patients were screened by IHC for LS with a median age of 63 years. Sixty tumors (27%) had abnormal IHC staining results. Fifty-one (22%) harbored heterodimeric loss of MLH1 and PMS2, 49 of which showed MLH1 promoter methylation (1 failure, 1 negative). One showed loss of MLH1/PMS2 and MSH6, 2 showed loss of MSH2/MSH6, and 6 had isolated loss of MSH6 only. Ten patients underwent genetic counseling, and germline testing was performed in 8; LS was confirmed in 5 patients (2.1%). In addition, 3 patients with negative germline testing and presumed Lynch-like syndrome were identified and offered additional somatic testing. Universal screening for LS in EC patients has yielded positive results for identification of patients at risk for this inherited syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Viruses-to-mobile genetic elements skew in the deep Atlantis II brine pool sediments

    KAUST Repository

    Adel, Mustafa

    2016-09-06

    The central rift of the Red Sea has 25 brine pools with different physical and geochemical characteristics. Atlantis II (ATIID), Discovery Deeps (DD) and Chain Deep (CD) are characterized by high salinity, temperature and metal content. Several studies reported microbial communities in these brine pools, but few studies addressed the brine pool sediments. Therefore, sediment cores were collected from ATIID, DD, CD brine pools and an adjacent brine-influenced site. Sixteen different lithologic sediment sections were subjected to shotgun DNA pyrosequencing to generate 1.47 billion base pairs (1.47 × 109 bp). We generated sediment-specific reads and attempted to annotate all reads. We report the phylogenetic and biochemical uniqueness of the deepest ATIID sulfur-rich brine pool sediments. In contrary to all other sediment sections, bacteria dominate the deepest ATIID sulfur-rich brine pool sediments. This decrease in virus-to-bacteria ratio in selected sections and depth coincided with an overrepresentation of mobile genetic elements. Skewing in the composition of viruses-to-mobile genetic elements may uniquely contribute to the distinct microbial consortium in sediments in proximity to hydrothermally active vents of the Red Sea and possibly in their surroundings, through differential horizontal gene transfer.

  5. FIELD IMPLEMENTATION PLAN FOR A WILLISTON BASIN BRINE EXTRACTION AND STORAGE TEST

    Energy Technology Data Exchange (ETDEWEB)

    Hamling, John; Klapperich, Ryan; Stepan, Daniel; Sorensen, James; Pekot, Lawrence; Peck, Wesley; Jacobson, Lonny; Bosshart, Nicholas; Hurley, John; Wilson, William; Kurz, Marc; Burnison, Shaughn; Salako, Olarinre; Musich, Mark; Botnen, Barry; Kalenze, Nicholas; Ayash, Scott; Ge, Jun; Jiang, Tao; Dalkhaa, Chantsalmaa; Oster, Benjamin; Peterson, Kyle; Feole, Ian; Gorecki, Charles; Steadman, Edward

    2016-03-31

    The Energy & Environmental Research Center (EERC) successfully completed all technical work of Phase I, including development of a field implementation plan (FIP) for a brine extraction and storage test (BEST) in the North Dakota portion of the Williston Basin. This implementation plan was commissioned by the U.S. Department of Energy (DOE) National Energy Technology Laboratory (NETL) as a proxy for managing formation pressure plumes and measuring/monitoring the movement of differential pressure and CO2 plumes in the subsurface for future saline CO2 storage projects. BEST comprises the demonstration and validation of active reservoir management (ARM) strategies and extracted brine treatment technologies. Two prospective commercial brine injection sites were evaluated for BEST to satisfy DOE’s goals. Ultimately, an active saltwater disposal (SWD) site, Johnsons Corner, was selected because it possesses an ideal combination of key factors making it uniquely suited to host BEST. This site is located in western North Dakota and operated by Nuverra Environmental Solutions (Nuverra), a national leader in brine handling, treatment, and injection. An integrated management approach was used to incorporate local and regional geologic characterization activities with geologic and simulation models, inform a monitoring, verification, and accounting (MVA) plan, and to conduct a risk assessment. This approach was used to design a FIP for an ARM schema and an extracted brine treatment technology test bed facility. The FIP leverages an existing pressure plume generated by two commercial SWD wells. These wells, in conjunction with a new brine extraction well, will be used to conduct the ARM schema. Results of these tests will be quantified based on their impact on the performance of the existing SWD wells and the surrounding reservoir system. Extracted brine will be injected into an underlying deep saline formation through a new injection well. The locations of proposed

  6. [Management and Nursing care for a patient with Lynch syndrome: A case report].

    Science.gov (United States)

    Pacheco-Pérez, Luis Arturo; Guevara Valtier, Milton Carlos

    2016-01-01

    Colorectal cancer is one of the leading causes of death from cancer worldwide. Main interventions to reduce the impact are aimed to enhance prevention and early detection. Results of several studies show that tests such as the fecal occult blood test and colonoscopy are effective for early diagnosis. There are hereditary syndromes such as Lynch Syndrome that can lead to certain types of cancers, including bowel neoplasms, therefore early detection needs to be included as part of the treatment. In these cases, family genetic testing is recommended if the bowel cancer is diagnosed before 50 years old. A care plan including the NANDA (North American Nursing Diagnosis Association), NOC (Nursing Outcomes Classification) and NIC (Nursing Interventions Classification) was developed for a patient with suspected Lynch Syndrome. Nurses should be qualified to identify potential cases of cancer associated with this syndrome, and thus, reduce the likelihood that family members develop the disease, through genetic counseling and education of environmental risk factors. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  7. Common mutations identified in the MLH1 gene in familial Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Jisha Elias

    2017-12-01

    In this study we identified three families with Lynch syndrome from a rural cancer center in western India (KCHRC, Goraj, Gujarat, where 70-75 CRC patients are seen annually. DNA isolated from the blood of consented family members of all three families (8-10 members/family was subjected to NGS sequencing methods on an Illumina HiSeq 4000 platform. We identified unique mutations in the MLH1 gene in all three HNPCC family members. Two of the three unrelated families shared a common mutation (154delA and 156delA. Total 8 members of a family were identified as carriers for 156delA mutation of which 5 members were unaffected while 3 were affected (age of onset: 1 member <30yrs & 2 were>40yr. The family with 154delA mutation showed 2 affected members (>40yr carrying the mutations.LYS618DEL mutation found in 8 members of the third family showed that both affected and unaffected carried the mutation. Thus the common mutations identified in the MLH1 gene in two unrelated families had a high risk for lynch syndrome especially above the age of 40.

  8. Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

    Directory of Open Access Journals (Sweden)

    Sofie V Nielsen

    2017-04-01

    Full Text Available Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis, biophysical modeling and co-variation analysis, performed in silico, can predict the abundance, metabolic stability, and function of proteins inside living cells. As a model system, we selected the human mismatch repair protein, MSH2, where missense variants are known to cause the hereditary cancer predisposition disease, known as Lynch syndrome. We show that the majority of disease-causing MSH2 mutations give rise to folding defects and proteasome-dependent degradation rather than inherent loss of function, and accordingly our in silico modeling data accurately identifies disease-causing mutations and outperforms the traditionally used genetic disease predictors. Thus, in conclusion, in silico biophysical modeling should be considered for making genotype-phenotype predictions and for diagnosis of Lynch syndrome, and perhaps other hereditary diseases.

  9. Guidelines to Facilitate the Evaluation of Brines for Winter Roadway Maintenance Operations.

    Science.gov (United States)

    2017-09-19

    This document presents guidelines to facilitate the evaluation of brines for winter weather roadway maintenance applications in Texas. Brines are used in anti-icing applications which typically consist of placing liquid snow and ice control chemicals...

  10. The technology of uranium extraction from the brine with high chlorine-ion content

    International Nuclear Information System (INIS)

    Khakimov, N.; Nazarov, Kh.M.; Mirsaidov, I.U.; Negmatov, Sh.I.; Barotov, B.B.

    2010-01-01

    Present article is devoted to technology of uranium extraction from the brine with high chlorine-ion content. The research results on uranium extraction from the brine of Sasik-Kul Lake by means of sorption method were considered. The chemical composition of salt was determined. The process of uranium sorption was described and analyzed. The technology of uranium extraction from the brine with high chlorine-ion content was proposed.

  11. Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge.

    Science.gov (United States)

    Lynch, Henry T; Lanspa, Stephen; Shaw, Trudy; Casey, Murray Joseph; Rendell, Marc; Stacey, Mark; Townley, Theresa; Snyder, Carrie; Hitchins, Megan; Bailey-Wilson, Joan

    2018-07-01

    Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy.

  12. [Experimental interaction of halophilic prokaryotes and opportunistic bacteria in brine].

    Science.gov (United States)

    Selivanova, E A; Nemtseva, N V

    2013-01-01

    Study the effect of extremely halophilic archaea and moderately halophilic bacteria on preservation of opportunistic bacteria in brine. 17 strains of moderately halophilic bacteria and 2 strains of extremely halophilic archaea were isolated from continental hypersaline lake Razval of Sol-Iletsk area of Orenburg Region. Identification of pure cultures of prokaryotes was carried out taking into account their phenotype properties and based on determination of 16S RNA gene sequence. The effect of halophilic prokaryote on elimination of Escherichia coli from brine was evaluated during co-cultivation. Antagonistic activity of cell extracts of the studied microorganisms was evaluated by photometric method. A more prolonged preservation of an E. coli strain in brine in the presence of live cells of extremely halophilic archaea Halorubrum tebenquichense and moderately halophilic bacteria Marinococcus halophilus was established. Extracts of cells of extremely halophilic archaea and moderately halophilic bacteria on the contrary displayed antagonistic activity. The protective effect of live cells of halophilic prokaryotes and antagonistic activity of their cell extracts change the period of conservation of opportunistic bacteria in brine that regulates inter-microbial interactions and changes the period of self-purification that reflects the sanitary condition of a hypersaline water body.

  13. Sorption of cesium and strontium from concentrated brines by backfill barrier materials

    International Nuclear Information System (INIS)

    Winslow, C.D.

    1981-03-01

    The sorption of radionuclides from potentially intruding groundwater at a nuclear waste repository is a major chemical function of backfill barriers. In this study, various materials (including clays, zeolites and an inorganic ion exchanger) were screened for the sorption of the fission products cesium and strontium in concentrated brines. Representative brines A and B for the Waste Isolation Pilot Plant (WIPP), a proposed radioactive waste repository and test facility in bedded salt were used. Sorption properties were quantified using empirical distribution coefficients, k/sub d/. Of the materials examined, sodium titanate had the highest k/sub d/ for the sorption of Sr(II) in both brine A (k/sub d/ = 125 ml/g) and brine B(k/sub d/ = 500 to 600 ml/g). A mordenite-type zeolite was the most effective getter for Cs(I) in brine A (k/sub d = 27 ml/g), while illite yielded the highest k/sub d/ for Cs(I) in brine B (k/sub d/ = 115 ml/g). The relative merit of these k/sub d/ values is evaluated in terms of calculated estimates of breakthrough times for a backfill barrier containing the getter. Results show that a backfill mixture containing these getters is potentially an effective barrier to the migration of Sr(II) and Cs(I), although further study (especially for the sorption of cesium from brine A) is recommended. Initial mechanistic studies revealed competing ion effects which would support an ion exchange mechanism. K/sub d/'s were constant over a Sr(II) concentration range of 10 -11 to 10 -5 M and a Cs(I) concentration range of 10 -8 to 10 -5 M, supporting the choice of a linear sorption isotherm as a model for the results. Constant batch composition was shown to be attained within one week

  14. Durability of concrete materials in high-magnesium brine

    International Nuclear Information System (INIS)

    Wakeley, L.D.; Poole, T.S.; Burkes, J.P.

    1994-03-01

    Cement pastes and mortars representing 11 combinations of candidate concrete materials were cast in the laboratory and monitored for susceptibility to chemical deterioration in high-magnesium brine. Mixtures were selected to include materials included in the current leading candidate concrete for seals at the Waste Isolation Pilot Plant (WIPP). Some materials were included in the experimental matrix to answer questions that had arisen during study of the concrete used for construction of the liner of the WIPP waste-handling shaft. Mixture combinations compared Class C and Class F fly ashes, presence or absence of an expansive component, and presence or absence of salt as a mixture component. Experimental conditions exposed the pastes and mortars to extreme conditions, those being very high levels of Mg ion and an effectively unlimited supply of brine. All pastes and mortars showed deterioration with brine exposure. In general, mortars deteriorated more extensively than the corresponding pastes. Two-inch cube specimens of mortar were not uniformly deteriorated, but showed obvious zoning even after a year in the brine, with a relatively unreacted zone remaining at the center of each cube. Loss of calcium from the calcium hydroxide of paste/aggregate interfaces caused measurable strength loss in the reacted zone comprising the outer portion of every mortar specimen. The current candidate mass concrete for WIPP seals includes salt as an initial component, and has a relatively closed initial microstructure. Both of these features contribute to its suitability for use in large placements within the Salado Formation

  15. Lithium recovery from salt lake brine by H2TiO3.

    Science.gov (United States)

    Chitrakar, Ramesh; Makita, Yoji; Ooi, Kenta; Sonoda, Akinari

    2014-06-21

    The details of the ion exchange properties of layered H2TiO3, derived from the layered Li2TiO3 precursor upon treatment with HCl solution, with lithium ions in the salt lake brine (collected from Salar de Uyuni, Bolivia) are reported. The lithium adsorption rate is slow, requiring 1 d to attain equilibrium at room temperature. The adsorption of lithium ions by H2TiO3 follows the Langmuir model with an adsorptive capacity of 32.6 mg g(-1) (4.7 mmol g(-1)) at pH 6.5 from the brine containing NaHCO3 (NaHCO3 added to control the pH). The total amount of sodium, potassium, magnesium and calcium adsorbed from the brine was lithium ions from the brine containing competitive cations such as sodium, potassium, magnesium and calcium in extremely large excess. The results indicate that the selectivity order Li(+) ≫ Na(+), K(+), Mg(2+), Ca(2+) originates from a size effect. The H2TiO3 can be regenerated and reused for lithium exchange in the brine with an exchange capacity very similar to the original H2TiO3.

  16. Ring Resonator for Detection of Melting Brine Under Shallow Subsurface of Mars

    Science.gov (United States)

    Ponchak, George E.; Jordan, Jennifer L.; Scardelletti, Maximilian C.

    2016-01-01

    Laboratory experimental evidence using Raman spectroscopy has shown that liquid brine may form below the shallow subsurface of Mars. A simpler experimental method to verify the presence of liquid brine or liquid water below Mars surface is needed. In this paper, a ring resonator is used to detect the phase change between frozen water and liquid water below a sandy soil that simulates the Mars surface. Experimental data shows that the ring resonator can detect the melting of thin layers of frozen brine or water up to 15 mm below the surface.

  17. Gypsum and hydrohalite dynamics in sea ice brines

    Science.gov (United States)

    Butler, Benjamin M.; Papadimitriou, Stathys; Day, Sarah J.; Kennedy, Hilary

    2017-09-01

    Mineral authigenesis from their dissolved sea salt matrix is an emergent feature of sea ice brines, fuelled by dramatic equilibrium solubility changes in the large sub-zero temperature range of this cryospheric system on the surface of high latitude oceans. The multi-electrolyte composition of seawater results in the potential for several minerals to precipitate in sea ice, each affecting the in-situ geochemical properties of the sea ice brine system, the habitat of sympagic biota. The solubility of two of these minerals, gypsum (CaSO4 ·2H2O) and hydrohalite (NaCl · 2H2O), was investigated in high ionic strength multi-electrolyte solutions at below-zero temperatures to examine their dissolution-precipitation dynamics in the sea ice brine system. The gypsum dynamics in sea ice were found to be highly dependent on the solubilities of mirabilite and hydrohalite between 0.2 and - 25.0 ° C. The hydrohalite solubility between - 14.3 and - 25.0 ° C exhibits a sharp change between undersaturated and supersaturated conditions, and, thus, distinct temperature fields of precipitation and dissolution in sea ice, with saturation occurring at - 22.9 ° C. The sharp changes in hydrohalite solubility at temperatures ⩽-22.9 °C result from the formation of an ice-hydrohalite aggregate, which alters the structural properties of brine inclusions in cold sea ice. Favourable conditions for gypsum precipitation in sea ice were determined to occur in the region of hydrohalite precipitation below - 22.9 ° C and in conditions of metastable mirabilite supersaturation above - 22.9 ° C (investigated at - 7.1 and - 8.2 ° C here) but gypsum is unlikely to persist once mirabilite forms at these warmer (>-22.9 °C) temperatures. The dynamics of hydrohalite in sea ice brines based on its experimental solubility were consistent with that derived from thermodynamic modelling (FREZCHEM code) but the gypsum dynamics derived from the code were inconsistent with that indicated by its

  18. Interval colon cancer in a Lynch syndrome patient under annual colonoscopic surveillance: a case for advanced imaging techniques?

    Directory of Open Access Journals (Sweden)

    Oxentenko Amy S

    2012-05-01

    Full Text Available Abstract Background Lynch syndrome confers increased risk for various malignancies, including colorectal cancer. Colonoscopic surveillance programs have led to reduced incidence of colorectal cancer and reduced mortality from colorectal cancer. Colonoscopy every 1–2 years beginning at age 20–25, or 10 years earlier than the first diagnosis of colorectal cancer in a family, with annual colonoscopy after age 40, is the recommended management for mutation carriers. Screening programs have reduced colon cancer mortality, but interval cancers may occur. Case presentation We describe a 48-year-old woman with Lynch syndrome who was found to have an adenoma with invasive colorectal cancer within one year after a normal colonoscopy. Conclusion Our patient illustrates two current concepts about Lynch syndrome: 1 adenomas are the cancer precursor and 2 such adenomas may be “aggressive,” in the sense that the adenoma progresses more readily and more rapidly to carcinoma in this setting compared to usual colorectal adenomas. Our patient’s resected tumor invaded only into submucosa and all lymph nodes were negative; in that sense, she represents a success for annual colonoscopic surveillance. Still, this case does raise the question of whether advanced imaging techniques are advisable for surveillance colonoscopy in these high-risk patients.

  19. Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion

    Directory of Open Access Journals (Sweden)

    Francesca Duraturo

    2013-01-01

    Full Text Available Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR genes, mainly MLH1 and MSH2. Most of the mutations reported in these genes to date are point mutations, small deletions, and insertions. Large genomic rearrangements in the MMR genes predisposing to Lynch syndrome also occur, but the frequency varies depending on the population studied on average from 5 to 20%. The aim of this study was to examine the contribution of large rearrangements in the MLH1 and MSH2 genes in a well-characterised series of 63 unrelated Southern Italian Lynch syndrome patients who were negative for pathogenic point mutations in the MLH1, MSH2, and MSH6 genes. We identified a large novel deletion in the MSH2 gene, including exon 6 in one of the patients analysed (1.6% frequency. This deletion was confirmed and localised by long-range PCR. The breakpoints of this rearrangement were characterised by sequencing. Further analysis of the breakpoints revealed that this rearrangement was a product of Alu-mediated recombination. Our findings identified a novel Alu-mediated rearrangement within MSH2 gene and showed that large deletions or duplications in MLH1 and MSH2 genes are low-frequency mutational events in Southern Italian patients with an inherited predisposition to colon cancer.

  20. Efficacy of chlorine dioxide against Listeria monocytogenes in brine chilling solutions.

    Science.gov (United States)

    Valderrama, W B; Mills, E W; Cutter, C N

    2009-11-01

    Chilled brine solutions are used by the food industry to rapidly cool ready-to-eat meat products after cooking and before packaging. Chlorine dioxide (ClO(2)) was investigated as an antimicrobial additive to eliminate Listeria monocytogenes. Several experiments were performed using brine solutions made of sodium chloride (NaCl) and calcium chloride (CaCl(2)) inoculated with L. monocytogenes and/or treated with 3 ppm of ClO(2). First, 10 and 20% CaCl(2) and NaCl solutions (pH 7.0) were inoculated with a five-strain cocktail of L. monocytogenes to obtain approximately 7 log CFU/ml and incubated 8 h at 0 degrees C. The results demonstrated that L. monocytogenes survived in 10% CaCl(2), 10 and 20% NaCl, and pure water. L. monocytogenes levels were reduced approximately 1.2 log CFU/ml in 20% CaCl(2). Second, inoculated ( approximately 7 log CFU/ml) brine solutions (10 and 20% NaCl and 10% CaCl(2)) treated with 3 ppm of ClO(2) resulted in a approximately 4-log reduction of the pathogen within 90 s. The same was not observed in a solution of 20% CaCl(2); further investigation demonstrated that high levels of divalent cations interfere with the disinfectant. Spent brine solutions from hot dog and ham chilling were treated with ClO(2) at concentrations of 3 or 30 ppm. At these concentrations, ClO(2) did not reduce L. monocytogenes. Removal of divalent cations and organic material in brine solutions prior to disinfection with ClO(2) should be investigated to improve the efficacy of the compound against L. monocytogenes. The information from this study may be useful to processing establishments and researchers who are investigating antimicrobials in chilling brine solutions.

  1. Biological screening of chitosan derivatives using Artemia spp. (brine shrimp test)

    International Nuclear Information System (INIS)

    Rozaini Mohd Zohdi; Norimah Yusof; Asnah Hassan

    2006-01-01

    The present study reported on the screening of six selected chitosan derivatives using the brine shrimp lethality bioassay. In addition, the irradiation effects towards the compounds at 25 kGy were also studied. Chitosan is a natural polysaccharide derived from chitin, extracted from the exoskeletons of crustaceans and insects as well as walls of some bacteria and fungi. Brine shrimp test is employed for the screening of toxicity of chitosan derivatives. Toxicity test was carried out by adding different concentrations of tested samples to approximately 5 to 15 Artemia salina larvae. Biological activity using the brine shrimp bioassay was recorded as LC 50 i.e. lethal concentration that kills 50% of the larvae within 24 hours of contact with the samples. Compounds are considered toxic when the LC 50 value is lower than 1 mg/ml by brine shrimp bioassay and practically non-toxic when the value is larger. Of the samples tested, none were toxic to the brine shrimp (LC 50 > 1 mg/ml). The LC 50 values of all chitosan derivatives tested, control and irradiated at 25 kGy were above 1 mg/ml thus all tested samples are considered non-toxic. This study demonstrated that irradiation at 25 kGy showed no significant effects towards the toxicity of the chitosan derivatives. After irradiation, only NO-CMC exhibited marked decrease in LC 50 value, reduced by 3-fold from 34.96 mg/ml to 11.07 mg/ml while O-CMC (5.45 mg/ml to 5 mg/ml) showed no clear differences based on rough estimation. This study suggested that brine shrimp bioassay is a simple, reliable and convenient method that could provide useful clues of the relative toxic potential of the sample tested. (Author)

  2. Brine Dewatering Using Ultrasonic Nebulization, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — Recovery of water from brine is critically important for manned space exploration. Resupply of water is prohibitively costly for extended missions. It is anticipated...

  3. Coiled Brine Recovery Assembly (CoBRA) Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The Coiled Brine Recovery Assembly (CoBRA) project will result in a proof-of-concept demonstration for a lightweight, compact, affordable, regenerable and disposable...

  4. Brine Dewatering Using Ultrasonic Nebulization, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — Recovery of water from brine is critically important for future manned space exploration. Resupply of water is prohibitively costly for such extended missions. Water...

  5. Distillation Brine Purification for Resource Recovery Applications

    Data.gov (United States)

    National Aeronautics and Space Administration — Wastewater processing systems for space generate residual brine that contains water and salts that could be recovered to reduce life support consumables. The project...

  6. Approach to recover strategic metals from brines

    Energy Technology Data Exchange (ETDEWEB)

    Raber, E.; Harrar, J.; Gregg, D.

    1981-09-16

    The objective of the proposed research is to evaluate hypersaline brines from geothermal sources and salt domes as possible sources for some strategic metals. This research is suggested because several previous analyses of brine from geothermal wells in the Imperial Valley, California, and from Gulf Coast salt domes, indicate near commercial values for platinum as well as other metals (i.e., gold, silver). Extraction of the platinum should be technically feasible. A research program should include more complete systematic sampling and analysis for resource delineation, followed by bench-scale investigation of several potential extraction processes. This could be followed by engineering feasibility and design studies, for extraction of the metals either as a by-product of other operations or in a stand-alone process.

  7. Corrosion and hydrogen permeation of A216 Grade WCA steel in hydrothermal magnesium-containing brines

    International Nuclear Information System (INIS)

    Haberman, J.H.; Frydrych, D.J.; Westerman, R.E.

    1988-03-01

    Corrosion rates determined at 1 month in 150/degree/C brine increased with magnesium concentration. The structure of the corrosion product, as determined by x-ray diffraction, depended upon the magnesium concentration. In brines with less than 10,000 ppM magnesium, the primary corrosion product had a spinel structure characteristic of magnetite or magnesioferrite. In brines containing magnesium concentrations greater than 20,000 ppM, the primary corrosion product had the amakinite structure characteristic of a complex iron-magnesium hydroxide. The high corrosion rates observed in brines containing high magnesium concentrations suggest that the corrosion products having the amakinite structure is less protective than corrosion products having the spinel structure. Corrosion rates in high-magnesium (inclusion) brine determined over a 6-month test duration were essentially constant. Hydrogen permeation rates observed in exposing mild steel to high-Mg/sup 2/plus// brine at 150/degree/C could be potentially damaging to a mild steel waste package container. The rate of hydrogen permeation was proportional to the brine flow rate in the autoclave. Thiourea additions to the brine increased the hydrogen permeation rate; sulfate and bromide ion additions did not. The maximum gaseous hydrogen pressure attainable is not known (based on 3Fe /plus/ 4H 2 O /plus/ Fe(sub 3)O /plus/ 4H 2 , would be /approximately/900 atmospheres), and the dependence of permeation rate on temperature is not known. 8 refs., 13 figs., 3 tabs

  8. Modeling Episodic Ephemeral Brine Lake Evaporation and Salt Crystallization on the Bonneville Salt Flats, Utah

    Science.gov (United States)

    Liu, T.; Harman, C. J.; Kipnis, E. L.; Bowen, B. B.

    2017-12-01

    Public concern about apparent reductions in the areal extent of the Bonneville Salt Flat (BSF) and perceived changes in inundation frequency has motivated renewed interest in the hydrologic and geochemical behavior of this salt playa. In this study, we develop a numerical modeling framework to simulate the relationship between hydrometeorologic variability, brine evaporation and salt crystallization processes on BSF. The BSF, locates in Utah, is the remnant of paleo-lake Bonneville, and is capped by up to 1 meter of salt deposition over a 100 km2 area. The BSF has two distinct hydrologic periods each year: a winter wet periods with standing surface brine and the summer dry periods when the brine is evaporated, exposing the surface salt crust. We develop a lumped non-linear dynamical models coupling conservation expressions from water, dissolved salt and thermal energy to investigate the seasonal and diurnal behavior of brine during the transition from standing brine to exposed salt at BSF. The lumped dynamic models capture important nonlinear and kinetic effects introduced by the high ionic concentration of the brine, including the pronounced effect of the depressed water activity coefficient on evaporation. The salt crystallization and dissolution rate is modeled as a kinetic process linearly proportional to the degree of supersaturation of brine. The model generates predictions of the brine temperature and the solute and solvent masses controlled by diurnal net radiation input and aerodynamic forcing. Two distinct mechanisms emerge as potential controls on salt production and dissolution: (1) evapo-concentration and (2) changes in solubility related to changes in brine temperature. Although the evaporation of water is responsible for ultimate disappearance of the brine each season ,variation in solubility is found to be the dominant control on diurnal cycles of salt precipitation and dissolution in the BSF case. Most salt is crystallized during nighttime, but the

  9. Field performance of timber bridges. 8, Lynches Woods Park stress-laminated deck bridge

    Science.gov (United States)

    J. P. Wacker; M. A. Ritter; D. Conger

    The Lynches Woods Park bridge was constructed during the summer of 1990 in Newberry, South Carolina. It is a single-span, single-lane, stress-laminated deck superstructure that measures approximately 30 ft long, 16 ft wide, and 14 in. deep. The bridge is unique in that is one of the first known stress-laminated deck bridges to be constructed of Southern Pine lumber...

  10. Determinants of adherence to recommendations for cancer prevention among Lynch Syndrome mutation carriers : A qualitative exploration

    NARCIS (Netherlands)

    Visser, Annemiek; Vrieling, Alina; Murugesu, Laxsini; Hoogerbrugge, Nicoline; Kampman, Ellen; Hoedjes, Meeke

    2017-01-01

    Background: Lynch Syndrome (LS) mutation carriers are at high risk for various cancer types, particularly colorectal cancer. Adherence to lifestyle and body weight recommendations for cancer prevention may lower this risk. To promote adherence to these recommendations, knowledge on determinants of

  11. Determinants of adherence to recommendations for cancer prevention among Lynch Syndrome mutation carriers: a qualitative exploration.

    NARCIS (Netherlands)

    Visser, A.; Vrieling, A.; Murugesu, L.; Hoogerbrugge, N.; Kampman, E.; Hoedjes, M.

    2017-01-01

    Background: Lynch Syndrome (LS) mutation carriers are at high risk for various cancer types, particularly colorectal cancer. Adherence to lifestyle and body weight recommendations for cancer prevention may lower this risk. To promote adherence to these recommendations, knowledge on determinants of

  12. Brine Migration in Heated Salt: Lessons Learned from Field Experiments

    Science.gov (United States)

    Kuhlman, K. L.; Matteo, E. N.; Mills, M.

    2017-12-01

    We summarize several interesting brine migration related phenomena hinted at in field experiments from field testing related to salt radioactive waste repositories in Germany and the US. Past heater tests in salt have shown 1) thermal-hydrological-mechanical coupling is quite strong during both heating and cooling; 2) chemical composition of brine evolves during heating, and comprises a mix of several water sources; and 3) acid gas (HCl) generation has been observed during past heater tests and may have multiple mechanisms for formation. We present a heated brine migration test design, formulated with these complexities in mind. Sandia National Laboratories is a multimission laboratory managed and operated by National Technology and Engineering Solutions of Sandia LLC, a wholly owned subsidiary of Honeywell International Inc. for the U.S. Department of Energy's National Nuclear Security Administration under contract DE-NA0003525.

  13. Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome.

    Science.gov (United States)

    Lu, Karen H; Loose, David S; Yates, Melinda S; Nogueras-Gonzalez, Graciela M; Munsell, Mark F; Chen, Lee-May; Lynch, Henry; Cornelison, Terri; Boyd-Rogers, Stephanie; Rubin, Mary; Daniels, Molly S; Conrad, Peggy; Milbourne, Andrea; Gershenson, David M; Broaddus, Russell R

    2013-08-01

    Women with Lynch syndrome have a 40% to 60% lifetime risk for developing endometrial cancer, a cancer associated with estrogen imbalance. The molecular basis for endometrial-specific tumorigenesis is unclear. Progestins inhibit estrogen-driven proliferation, and epidemiologic studies have shown that progestin-containing oral contraceptives (OCP) reduce the risk of endometrial cancer by 50% in women at general population risk. It is unknown whether they are effective in women with Lynch syndrome. Asymptomatic women ages 25 to 50 with Lynch syndrome were randomized to receive the progestin compounds Depo-Provera (depo-MPA) or OCP for three months. An endometrial biopsy and transvaginal ultrasound were conducted before and after treatment. Endometrial proliferation was evaluated as the primary endpoint. Histology and a panel of surrogate endpoint biomarkers were evaluated for each endometrial biopsy as secondary endpoints. A total of 51 women were enrolled, and 46 completed treatment. Two of the 51 women had complex hyperplasia with atypia at the baseline endometrial biopsy and were excluded from the study. Overall, both depo-MPA and OCP induced a dramatic decrease in endometrial epithelial proliferation and microscopic changes in the endometrium characteristic of progestin action. Transvaginal ultrasound measurement of endometrial stripe was not a useful measure of endometrial response or baseline hyperplasia. These results show that women with Lynch syndrome do show an endometrial response to short-term exogenous progestins, suggesting that OCP and depo-MPA may be reasonable chemopreventive agents in this high-risk patient population.

  14. An {sup 57}Fe Mössbauer study of the ordinary chondrite meteorite Lynch 001

    Energy Technology Data Exchange (ETDEWEB)

    Elewa, Nancy N., E-mail: nancy.elewa@student.unsw.edu.au; Cadogan, J. M. [The University of New South Wales at the Australian Defence Force Academy, School of Physical, Environmental and Mathematical Sciences (Australia)

    2017-11-15

    The Lynch 001 meteorite was found in the Nullarbor Plain region of Western Australia in 1977. This meteorite is classified as an ordinary chondrite of the petrologic group L5/6 that has undergone ‘minor to moderate’ terrestrial weathering. Here, we characterize the Fe-bearing phases in this chondrite using {sup 57}Fe Mössbauer spectroscopy carried out over the temperature range 13 K to room temperature (295 K). The paramagnetic doublets of olivine, pyroxene and a superparamagnetic ferric phase dominate the room temperature Mössbauer spectrum. On the basis of the room temperature quadrupole splitting of the olivine component, we estimate its composition to be Fa {sub 30(5)}. Besides the paramagnetic ferric component, accounting for ∼15 % of the spectral area at room temperature, magnetically ordered ferric phases were also detected. The total relative proportion of the Fe {sup 3+} components allows us to estimate the terrestrial age of Lynch 001 to be 6,500 ± 1,500 yr, consistent with the value of 6,700 ± 1,300 yr determined by {sup 14}C dating.

  15. Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families

    Science.gov (United States)

    Burton-Chase, Allison M.; Hovick, Shelly R.; Peterson, Susan K.; Marani, Salma K.; Vernon, Sally W.; Amos, Christopher I.; Frazier, Marsha L.; Lynch, Patrick M.; Gritz, Ellen R.

    2013-01-01

    Purpose This study examined colonoscopy adherence and attitudes towards colorectal cancer (CRC) screening in individuals who underwent Lynch syndrome genetic counseling and testing. Methods We evaluated changes in colonoscopy adherence and CRC screening attitudes in 78 cancer-unaffected relatives of Lynch syndrome mutation carriers before pre-test genetic counseling (baseline) and at 6 and 12 months post-disclosure of test results (52 mutation-negative, 26 mutation-positive). Results While both groups were similar at baseline, at 12 months post-disclosure, a greater number of mutation-positive individuals had had a colonoscopy compared with mutation-negative individuals. From baseline to 12 months post-disclosure, the mutation-positive group demonstrated an increase in mean scores on measures of colonoscopy commitment, self-efficacy, and perceived benefits of CRC screening, and a decrease in mean scores for perceived barriers to CRC screening. Mean scores on colonoscopy commitment decreased from baseline to 6 months in the mutation-negative group. Conclusion Adherence to risk-appropriate guidelines for CRC surveillance improved after genetic counseling and testing for Lynch syndrome. Mutation-positive individuals reported increasingly positive attitudes toward CRC screening after receiving genetic test results, potentially reinforcing longer term colonoscopy adherence. PMID:23414081

  16. Comparison of extended colectomy and limited resection in patients with Lynch syndrome.

    Science.gov (United States)

    Natarajan, Nagendra; Watson, Patrice; Silva-Lopez, Edibaldo; Lynch, Henry T

    2010-01-01

    The purpose of the study was to determine the advantages and disadvantages of prophylactic/extended colectomy (subtotal colectomy) in patients with Lynch syndrome who manifest colorectal cancer. A retrospective cohort using Creighton University's hereditary cancer database was used to identify cases and controls. Cases are patients who underwent subtotal colectomy, either with no colorectal cancer diagnosis (prophylactic) or at diagnosis of first colorectal cancer; controls for these 2 types of cases were, respectively, patients who underwent no colon surgery or those having limited resection at time of diagnosis of first colorectal cancer. The Kaplan-Meier and proportional hazard regression models from the Statistical Analysis Software program was used to calculate the difference in survival, time to subsequent colorectal cancer, and subsequent abdominal surgery between cases and controls. The event-free survival of our study did not reach 50%, so we used the event-free survival at 5 years as our parameter to compare the 2 groups. The event-free survival for subsequent colorectal cancer, subsequent abdominal surgery, and death was 94%, 84%, and 93%, respectively, for cases and 74%, 63%, and 88%, respectively, for controls. Times to subsequent colorectal cancer and subsequent abdominal surgery were significantly shorter in the control group (P Lynch syndrome.

  17. Germline Hypermethylation of MLH1 and EPCAM Deletions Are a Frequent Cause of Lynch Syndrome

    NARCIS (Netherlands)

    Niessen, Renee C.; Hofstra, Robert M. W.; Westers, Helga; Ligtenberg, Marjolijn J. L.; Kooi, Krista; Jager, Paul O. J.; de Groote, Marloes L.; Dijkhuizen, Trijnie; Olderode-Berends, Maran J. W.; Hollema, Harry; Kleibeuker, Jan H.; Sijmons, Rolf H.

    It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3' region of EPCAM cause transcriptional read-through which results in silencing of MSH2 by hypermethylation.

  18. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

    NARCIS (Netherlands)

    Niessen, R.C.; Hofstra, R.M.; Westers, H.; Ligtenberg, M.J.L.; Kooi, K.; Jager, P.O.; Groote, M.L. de; Dijkhuizen, T.; Olderode-Berends, M.J.; Hollema, H.; Kleibeuker, J.H.; Sijmons, R.H.

    2009-01-01

    It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3' region of EPCAM cause transcriptional read-through which results in silencing of MSH2 by hypermethylation.

  19. Bayesian Modeling for Genetic Anticipation in Presence of Mutational Heterogeneity: A Case Study in Lynch Syndrome

    DEFF Research Database (Denmark)

    Boonstra, Philip S; Mukherjee, Bhramar; Taylor, Jeremy M G

    2011-01-01

    to cause hereditary nonpolyposis colorectal cancer, also called Lynch syndrome (LS). We find evidence for a decrease in AOO between generations in this article. Our model predicts family-level anticipation effects that are potentially useful in genetic counseling clinics for high-risk families....

  20. Cryogenic formation of brine and sedimentary mirabilite in submergent coastal lake basins, Canadian Arctic

    Science.gov (United States)

    Grasby, Stephen E.; Rod Smith, I.; Bell, Trevor; Forbes, Donald L.

    2013-06-01

    Two informally named basins (Mirabilite Basins 1 and 2) along a submergent coastline on Banks Island, Canadian Arctic Archipelago, host up to 1 m-thick accumulations of mirabilite (Na2SO4·10H2O) underlying stratified water bodies with basal anoxic brines. Unlike isostatically uplifting coastlines that trap seawater in coastal basins, these basins formed from freshwater lakes that were transgressed by seawater. The depth of the sill that separates the basins from the sea is shallow (1.15 m), such that seasonal sea ice formation down to 1.6 m isolates the basins from open water exchange through the winter. Freezing of seawater excludes salts, generating dense brines that sink to the basin bottom. Progressive freezing increases salinity of residual brines to the point of mirabilite saturation, and as a result sedimentary deposits of mirabilite accumulate on the basin floors. Brine formation also leads to density stratification and bottom water anoxia. We propose a model whereby summer melt of the ice cover forms a temporary freshwater lens, and rather than mixing with the underlying brines, it is exchanged with seawater once the ice plug that separates the basins from the open sea melts. This permits progressive brine development and density stratification within the basins.

  1. Water Recovery from Brines to Further Close the Water Recovery Loop in Human Spaceflight

    Science.gov (United States)

    Jackson, W. Andrew; Barta, Daniel J.; Anderson, Molly S.; Lange, Kevin E.; Hanford, Anthony J.; Shull, Sarah A.; Carter, D. Layne

    2014-01-01

    Further closure of water recovery systems will be necessary for future long duration human exploration missions. NASA's Space Technology Roadmap for Human Health, Life Support and Habitation Systems specified a milestone to advance water management technologies during the 2015 to 2019 timeframe to achieve 98% H2O recovery from a mixed wastewater stream containing condensate, urine, hygiene, laundry, and water derived from waste. This goal can only be achieved by either reducing the amount of brines produced by a water recovery system or by recovering water from wastewater brines. NASA convened a Technical Interchange Meeting (TIM) on the topic of Water Recovery from Brines (WRB) that was held on January14-15th, 2014 at Johnson Space Center. Objectives of the TIM were to review systems and architectures that are sources of brines and the composition of brines they produce, review the state of the art in NASA technology development and perspectives from other industries, capture the challenges and difficulties in developing brine processing hardware, identify key figures of merit and requirements to focus technology development and evaluate candidate technologies, and identify other critical issues including microgravity sensitivity, and concepts of operation, safety. This paper represents an initial summary of findings from the workshop.

  2. In situ brine migration experiments at the Avery Island salt mine

    International Nuclear Information System (INIS)

    Krause, W.B.; Van Sambeek, L.L.; Stickney, R.G.

    1980-01-01

    An in situ brine movement study was conducted at the Avery Island Salt Mine of the International Salt Company in southwestern Louisiana. The objective of the in situ experiments was to relate field measurements to previously determined laboratory and analytical results for the purpose of determining the rate and amount of brine movement through dome salt when subjected to heating. The heating in the experiments was provided by electrical heaters emplaced in the salt mine floor. An understanding of thermally induced brine movement is essential from the standpoint of identifying conditions which may influence the physical integrity of the nuclear waste canisters or impede the functional performance of the waste package system in a nuclear waste repository in geologic salt. 28 refs

  3. Nuclear waste repository simulation experiments (brine migration), Asse Mine of the Federal Republic of Germany: Quarterly brine migration data report, October--December 1985

    International Nuclear Information System (INIS)

    Eckert, J.L.; Kalia, H.N.; Coyle, A.J.

    1988-03-01

    The tenth brine migration data report describes experiments simulating a nuclear waste repository at the 800-m (2624-ft) level of the Asse Salt Mine in the Federal Republic of Germany from May 1983 through December 1985. This report describes the test equipment, the Asse Salt Mine, and the pretest properties of the salt in the test gallery. This report includes test data for 31 months of operations on brine migration rates, borehole pressure, salt temperatures and thermomechanical behavior of the salt. 3 refs., 118 figs., 93 tabs

  4. Modelling CO2-Brine Interfacial Tension using Density Gradient Theory

    KAUST Repository

    Ruslan, Mohd Fuad Anwari Che

    2018-03-01

    Knowledge regarding carbon dioxide (CO2)-brine interfacial tension (IFT) is important for petroleum industry and Carbon Capture and Storage (CCS) strategies. In petroleum industry, CO2-brine IFT is especially importance for CO2 – based enhanced oil recovery strategy as it affects phase behavior and fluid transport in porous media. CCS which involves storing CO2 in geological storage sites also requires understanding regarding CO2-brine IFT as this parameter affects CO2 quantity that could be securely stored in the storage site. Several methods have been used to compute CO2-brine interfacial tension. One of the methods employed is by using Density Gradient Theory (DGT) approach. In DGT model, IFT is computed based on the component density distribution across the interface. However, current model is only applicable for modelling low to medium ionic strength solution. This limitation is due to the model only considers the increase of IFT due to the changes of bulk phases properties and does not account for ion distribution at interface. In this study, a new modelling strategy to compute CO2-brine IFT based on DGT was proposed. In the proposed model, ion distribution across interface was accounted for by separating the interface to two sections. The saddle point of tangent plane distance where ( ) was defined as the boundary separating the two sections of the interface. Electrolyte is assumed to be present only in the second section which is connected to the bulk liquid phase side. Numerical simulations were performed using the proposed approach for single and mixed salt solutions for three salts (NaCl, KCl, and CaCl2), for temperature (298 K to 443 K), pressure (2 MPa to 70 MPa), and ionic strength (0.085 mol·kg-1 to 15 mol·kg-1). The simulation result shows that the tuned model was able to predict with good accuracy CO2-brine IFT for all studied cases. Comparison with current DGT model showed that the proposed approach yields better match with the experiment data

  5. Differences in histological features and PD-L1 expression between sporadic microsatellite instability and Lynch-syndrome-associated disease in Japanese patients with colorectal cancer.

    Science.gov (United States)

    Yamada, Rin; Yamaguchi, Tatsuro; Iijima, Takeru; Wakaume, Rika; Takao, Misato; Koizumi, Koichi; Hishima, Tsunekazu; Horiguchi, Shin-Ichiro

    2018-06-01

    The field of immunotherapy has recently focused on cancers with microsatellite instability (MSI). These cancers include both Lynch-syndrome-associated tumors, which are caused by mismatch repair (MMR) germline mutations, and sporadic MSI tumors, which are mainly attributed to MLH1 promoter methylation. The present study aimed to clarify differences in the histological and PD-L1 expression profiles between these two types of MSI cancers in Japanese patients. Among 908 cases of colorectal cancer treated via surgical resection from 2008 to 2014, we identified 64 MSI cancers, including 36 sporadic MSI and 28 Lynch-syndrome-associated cancers, using a BRAF V600E mutation analysis and MLH1 methylation analysis. Of the latter subgroup, 21 (75%) harbored MMR germline mutations. The following were more frequent with sporadic MSI than with Lynch syndrome associated cancers: poor differentiation (50.0 vs. 7.1%, P = 0.0002), especially solid type (30.6 vs. 3.6%, P = 0.0061); medullary morphology (19.4 and 0%, P = 0.015), Crohn-like lymphoid reaction (50.0 vs. 25.0%, P = 0.042), and PD-L1 expression (25.0 vs. 3.6%, P = 0.034). However, the groups did not differ in terms of the mean invasive front and intratumoral CD8-positive cell densities. In a logistic regression analysis, PD-L1 expression correlated with poor differentiation (odds ratio: 7.65, 95% confidence interval: 1.55-37.7, P = 0.012), but not with the difference between sporadic MSI cancer and Lynch-syndrome-associated cancer (odds ratio: 4.74, 95% confidence interval: 0.50-45.0, P = 0.176). Therefore, compared with Lynch-syndrome-associated cancers, sporadic MSI cancers are more frequently solid, poorly differentiated medullary cancers that express PD-L1.

  6. Deep brine recognition upstream the EBE syndicate. Geochemical and isotopic investigations. Final report

    International Nuclear Information System (INIS)

    2009-01-01

    The authors report and discuss the results obtained after performing a drilling upstream the drinkable water harnessing field of a water supply syndicate in Alsace (Ensisheim, Bollwiller and surroundings), in order to confirm the existence of a deep brine source. This brine is diluted by recent waters. The first isotopic investigations do not allow the origin of this brine to be identified, but fractures due to some seismic events are suspected. The report presents the drilling and the various aspects of the chemical and isotopic studies (sampling, physico-chemical analysis, dating, identification of various isotopes)

  7. A deep sea community at the Kebrit brine pool in the Red Sea

    KAUST Repository

    Vestheim, Hege; Kaartvedt, Stein

    2015-01-01

    Approximately 25 deep sea brine pools occur along the mid axis of the Red Sea. These hypersaline, anoxic, and acidic environments have previously been reported to host diverse microbial communities. We visited the Kebrit brine pool in April 2013

  8. Design of Tomato Drying System by Utilizing Brine Geothermal

    Science.gov (United States)

    Afuar, W.; Sibarani, B.; Abdurrahman, G.; Hendrarsakti, J.

    2016-09-01

    Cultivation of tomato plants in Indonesia has been started since 1961.Tomatoes generally will rot in three days if left on storage. Moreover, low quality tomatoes have cheaper price. After harvested, tomatoes need to be treated by drying process so it can last longer. Energy for drying tomatoes can be obtained by utilizing heat from geothermal brine. Purpose of this research is to design a tomato drying system by extracting heat of geothermal brine from separator with certain flow rate to heat up water by using a heat exchanger. Furthermore, this water will be used to heat up the surrounding air which is circulated by blower system to heat up the tomatoes chamber. Tomatoes drying process needs temperature range of 50-70°C to evaporate water content from 95.7% to 26%. After that treatment, the tomatoes are expected to have better durability. The objective of this study is to determine the quantity of hot brine which is needed for drying tomatoes and to design a drying system so that tomatoes can last longer.

  9. Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors

    DEFF Research Database (Denmark)

    Ketabi, Zohreh; Bartuma, Katarina; Bernstein, Inge

    2011-01-01

    . The underlying MMR gene mutations in these families affected MSH2 in 49%, MSH6 in 33% and MLH1 in 17%. Immunohistochemical loss of the corresponding MMR protein was demonstrated in 33/36 (92%) tumors analyzed. CONCLUSION: The combined data from our cohorts demonstrate that ovarian cancer associated with Lynch...

  10. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.

    Science.gov (United States)

    Burn, John; Bishop, D Timothy; Mecklin, Jukka-Pekka; Macrae, Finlay; Möslein, Gabriela; Olschwang, Sylviane; Bisgaard, Marie-Luise; Ramesar, Raj; Eccles, Diana; Maher, Eamonn R; Bertario, Lucio; Jarvinen, Heikki J; Lindblom, Annika; Evans, D Gareth; Lubinski, Jan; Morrison, Patrick J; Ho, Judy W C; Vasen, Hans F A; Side, Lucy; Thomas, Huw J W; Scott, Rodney J; Dunlop, Malcolm; Barker, Gail; Elliott, Faye; Jass, Jeremy R; Fodde, Ricardo; Lynch, Henry T; Mathers, John C

    2008-12-11

    Observational and epidemiologic data indicate that the use of aspirin reduces the risk of colorectal neoplasia; however, the effects of aspirin in the Lynch syndrome (hereditary nonpolyposis colon cancer) are not known. Resistant starch has been associated with an antineoplastic effect on the colon. In a randomized, placebo-controlled trial, we used a two-by-two design to investigate the effects of aspirin, at a dose of 600 mg per day, and resistant starch (Novelose), at a dose of 30 g per day, in reducing the risk of adenoma and carcinoma among persons with the Lynch syndrome. Among 1071 persons in 43 centers, 62 were ineligible to participate in the study, 72 did not enter the study, and 191 withdrew from the study. These three categories were equally distributed across the study groups. Over a mean period of 29 months (range, 7 to 74), colonic adenoma or carcinoma developed in 141 participants. Of 693 participants randomly assigned to receive aspirin or placebo, neoplasia developed in 66 participants receiving aspirin (18.9%), as compared with 65 receiving placebo (19.0%) (relative risk, 1.0; 95% confidence interval [CI], 0.7 to 1.4). There were no significant differences between the two groups with respect to the development of advanced neoplasia (7.4% and 9.9%, respectively; P=0.33). Among the 727 participants receiving resistant starch or placebo, neoplasia developed in 67 participants receiving starch (18.7%), as compared with 68 receiving placebo (18.4%) (relative risk, 1.0; 95% CI, 0.7 to 1.4). Advanced adenomas and colorectal cancers were evenly distributed in the two groups. The prevalence of serious adverse events was low, and the events were evenly distributed. The use of aspirin, resistant starch, or both for up to 4 years has no effect on the incidence of colorectal adenoma or carcinoma among carriers of the Lynch syndrome. (Current Controlled Trials number, ISRCTN59521990.) 2008 Massachusetts Medical Society

  11. Near-field environment research at PNL relevant to brine migration phenomena

    International Nuclear Information System (INIS)

    Pederson, L.R.; Gray, W.J.; Hodges, F.N.

    1987-01-01

    Heat and radiation resulting from emplacement of a high level nuclear waste package in a repository in salt will cause physical and chemical changes in the host rock and any brines present. These changes may alter the performance of waste package materials. Gamma radiolysis decomposes water into hydrogen and oxygen, hydrogen peroxide, and various other free radical and ionic species. Gamma ray irradiation of rock salt decomposes that salt to sodium metal colloids and neutral chlorine (unknown form), changing both its physical and chemical properties. Sodium metal will react, if contacted by water, to form sodium hydroxide plus hydrogen gas, while chlorine will react to form hydrochloric plus hypochlorous acids. If irradiated salts are completely dissolved, little impact on the chemical environment is expected because the acids and bases formed will neutralize each other. Heat from the waste package can alter the chemistry of the host rock. Changes in temperature can also alter the chemistry of brines by precipitation of phases with retrograde solubility, addition of more soluble salt components to the brine, and by reaction with clays and other impurities in the salt. Some of these reactions could be accompanied by significant shifts in the pH. In experiments to date, no important changes in chemistry have been observed when typical Permian Basin intrusion or inclusion brines were heated up to 150 0 C with no excess site-specific salt present. When excess salt was included, acidic shifts were noted, increasing with brine-salt interaction time and temperature

  12. Salted herring brine as a coating or additive for herring (Clupea harengus) products — A source of natural antioxidants?

    DEFF Research Database (Denmark)

    Albertos, Irene; Gringer, Nina; Rico, Daniel

    2016-01-01

    The objective of this study was to characterise herring brine and assess its use as natural antioxidant in herring preservation. Herring brines from different marinated products (brine from fillet-ripened spice-cured herring SC, traditional barrel-salted spice-cured herring TSp and brine from...

  13. Indoor tests to investigate the effect of brine depth on the performance of solar still

    Energy Technology Data Exchange (ETDEWEB)

    Ali, Marwah A.W.; Jabbar N. Khalifa, Abdul [Nahrain University, College of Engineering, Jadiriya, P.O. Box 64040, Baghdad (Iraq)

    2013-07-01

    Many experimental and numerical studies have been done on different configurations of solar stills to optimize the design by examining the effect of climatic, operational and design parameters on its performance. One of the most important of the operational parameters that has received a considerable attention in the literature is the brine depth. This paper reports indoor experimental investigations on the effect of brine depth on the productivity and efficiency of the solar stills at four different brine depths of 1.5, 2, 4 and 5.5 cm. Indoor tests were used by simulating the solar input by proper electric heaters located at the bottom of the still for heating the water contained in the basin of the still. The present study validated the decreasing trend in productivity with the increase of brine depth and showed that the still productivity could be influenced by the brine depth by up to 24%.

  14. Effects of gamma radiation on the survival and growth of brine shrimp, Artemia salina

    International Nuclear Information System (INIS)

    Engel, D.W.; Davis, E.M.

    1976-01-01

    To determine the effects of gamma radiation on the survival and growth of brine shrimp, nauplii and adults were exposed to different doses of radiation and maintained at different salinities and temperatures. The LD 50 determination demonstrated that nauplii were thirty to forty times more sensitive than the adults and had a 25-day LD 50 of 450 rads. Radiation and salinity reduced survival of adult female brine shrimp more than the males. The interaction of salinity, 5 and 50 ppt, temperature, 10, 20 and 30 0 C, and radiation, 25 to 100 kilorads, decreased the survival of both male and female brine shrimp, with the males having the greater sensitivity. Brine shrimp nauplii irradiated with doses of 500 and 2,500 rads had accelerated growth and matured earlier than the controls. A test of the effect of crowding on growth showed that volume per individual was important, and a dose of 500 rads accelerated brine shrimp growth in all concentrations, with the greatest increase at 8 ml/nauplius

  15. Prospective, Multi-center Randomized Intermediate Biomarker Study of Oral Contraceptive vs. Depo-Provera for Prevention of Endometrial Cancer in Women with Lynch Syndrome

    Science.gov (United States)

    Lu, Karen H.; Loose, David S.; Yates, Melinda S.; Nogueras-Gonzalez, Graciela M.; Munsell, Mark F.; Chen, Lee-may; Lynch, Henry; Cornelison, Terri; Boyd-Rogers, Stephanie; Rubin, Mary; Daniels, Molly S.; Conrad, Peggy; Milbourne, Andrea; Gershenson, David M.; Broaddus, Russell R.

    2013-01-01

    Women with Lynch syndrome have a 40–60% lifetime risk for developing endometrial cancer, a cancer associated with estrogen imbalance. The molecular basis for endometrial-specific tumorigenesis is unclear. Progestins inhibit estrogen-driven proliferation, and epidemiologic studies have demonstrated that progestin-containing oral contraceptives (OCP) reduce the risk of endometrial cancer by 50% in women at general population risk. It is unknown if they are effective in women with Lynch syndrome. Asymptomatic women age 25–50 with Lynch syndrome were randomized to receive the progestin compounds depo-Provera (depoMPA) or OCP for three months. An endometrial biopsy and transvaginal ultrasound were performed before and after treatment. Endometrial proliferation was evaluated as the primary endpoint. Histology and a panel of surrogate endpoint biomarkers were evaluated for each endometrial biopsy as secondary endpoints. A total of 51 women were enrolled, and 46 completed treatment. Two of the 51 women had complex hyperplasia with atypia at the baseline endometrial biopsy and were excluded from the study. Overall, both depoMPA and OCP induced a dramatic decrease in endometrial epithelial proliferation and microscopic changes in the endometrium characteristic of progestin action. Transvaginal ultrasound measurement of endometrial stripe was not a useful measure of endometrial response or baseline hyperplasia. These results demonstrate that women with Lynch syndrome do show an endometrial response to short term exogenous progestins, suggesting that OCP and depoMPA may be reasonable chemopreventive agents in this high-risk patient population. PMID:23639481

  16. Physiological characteristics of bacteria isolated from water brines within permafrost

    Science.gov (United States)

    Shcherbakova, V.; Rivkina, E.; Laurinavichuis, K.; Pecheritsina, S.; Gilichinsky, D.

    2004-01-01

    In the Arctic there are lenses of overcooled water brines (cryopegs) sandwiched within permafrost marine sediments 100 120 thousand years old. We have investigated the physiological properties of the pure cultures of anaerobic Clostridium sp. strain 14D1 and two strains of aerobic bacteria Psychrobacter sp. isolated from these cryopegs. The structural and physiological characteristics of new bacteria from water brines have shown their ability to survive and develop under harsh conditions, such as subzero temperatures and high salinity.

  17. Lynch, Urry and city marketing: Taking advantage of the city as a built and graphic image

    NARCIS (Netherlands)

    Hospers, G-J.

    2009-01-01

    City marketing is usually addressed from the perspective of marketing theory. This article follows an alternative approach by exploring city marketing from the viewpoint of urban planning and the sociology of tourism. In his classic ‘The Image of the City’ (1960), planner Kevin Lynch found that

  18. Uncertainties in the Management of a Lynch Syndrome Patient: A Case Report

    OpenAIRE

    Campos, Sara; Amaro, Pedro; Cunha, Inês; Fraga, João; Cipriano, Maria Augusta; Tomé, Luís

    2017-01-01

    Introduction: Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is characterized by mutations in mismatch repair (MMR) genes leading to an increased cancer risk, namely colorectal cancer. Case: In the context of surveillance colonoscopy, a 40-mm flat lesion (0-IIa+b, Paris classification) was identified and submitted to piecemeal mucosal endoscopic resection in a 64-year-old LS patient with an MLH1 germline mutation (262delATC) and two previous segmental resections d...

  19. A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification

    OpenAIRE

    Tognetto, Alessia; Michelazzo, Maria Benedetta; Calabró, Giovanna Elisa; Unim, Brigid; Di Marco, Marco; Ricciardi, Walter; Pastorino, Roberta; Boccia, Stefania

    2017-01-01

    Background Lynch syndrome (LS) is the most common hereditary colon cancer syndrome, accounting for 3–5% of colorectal cancer (CRC) cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for ...

  20. Brine migration test - Asse salt mine, Federal Republic of Germany

    International Nuclear Information System (INIS)

    Rothfuchs, T.; Wieczorek, K.; Feddersen, H.K.; Staupendahl, G.; Coyle, A.J.; Kalia, H.; Eckert, J.

    1988-03-01

    This document is the final report on the Cooperative German-American 'Brine Migration Tests' that were performed at the Asse Salt Mine in the Federal Republic of Germany (FRG), the Office of Nuclear Waste Isolation (ONWI), Columbus, Ohio, and the Institut fuer Tieflagerung (IfT), Braunschweig, of the Gesellschaft fuer Strahlen- und Umweltforschung mbH Muenchen (GSF). Final test and equipment design as well as manufacturing and installation was carried out by Westinghouse Electric Corporation. The tests were designed to simulate a nuclear waste repository to measure the effects of heat and gamma radiation on brine migration, salt decrepitation, disassociation of brine, and gases collected. The thermal mechanical behavior of salt, such as room closure, stresses and changes of the properties of salt are measured and compared with predicted behavior. The performance of an array of candidate waste package materials, test equipment and procedures under repository conditions will be evaluated with a view towards future in-depth testing of potential repository sites. (orig./RB)

  1. Fluid inclusion brine compositions from Palo Duro Basin salt sites

    International Nuclear Information System (INIS)

    Moody, J.B.

    1987-01-01

    The fluid inclusion analyses were done on salt samples from Lower San Andres Cycle 4 and 5. The stable isotope composition of the fluid inclusion brines was measured on duplicate samples taken from the same fluid inclusion brine for correlation of geochemical content with the stable isotopic content. The analyzed Palo Duro Basin salt fluid inclusions are predominantly one phase, i.e., the presence of a fluid only. However, many of the larger fluid inclusions do have a small vapor bubble. This liquid/vapor ratio is so high in these vapor-containing fluid inclusions that their behavior in a thermal gradient would be almost identical to that of all liquid inclusions. Closely associated with the fluid inclusions are cryptomelane where some fibers penetrate into halite host crystal. The fluid inclusions have a wide variability in content for those components that were analyzed, even within the same salt type. The fluid inclusion brines are also acidic, ranging from 3 to 6 as measured with pH test papers

  2. Attempt to enrich of a new spontaneous fissioning nuclide by evaporation of natural brine

    International Nuclear Information System (INIS)

    Adamek, A.; Zhuravleva, E.L.; Constantinescu, M.; Constantinescu, o.; Chuburkov, Yu.T.

    1983-01-01

    The enrichment of the new spontaneous fissioning nuclide discovered in the Cheleken brine, was made by evaporation. The purpose of this work was the comparison of behaviour of the new spontaneous fissioning nuclide with that of the known elements in the formation processes of the high concentration brines. Spontaneous fission of the nuclide was measured by means of the counters for multiple emission of neutrons. It is shown that the new spontaneous fissioning nuclide was enriched as well as other trace elements (Hg, Tl, Bi and Pb) in a solution remained after the evaporation of the initial solution. The conclusion is drawn that from the sea water brines could be obtained by evaporation which are enriched in trace elements with an enrichment degree higher than the natural brines

  3. Models for Immune Response and Immune Evasion in MSI Cancer and Lynch Syndrome

    OpenAIRE

    Özcan, Mine

    2017-01-01

    Microsatellite-unstable (MSI) cancers occurring in the context of the hereditary Lynch syndrome or as sporadic cancers elicit pronounced tumor-specific immune responses. The pronounced immune response was shown to be closely associated with frameshift peptides (FSP) that are generated as a result of deficiency in DNA mismatch repair system leading to insertion/deletion mutations in coding microsatellites (cMS). FSP neoantigens are long antigenic amino acid stretches that bear m...

  4. Selective Recovery of Metals from Geothermal Brines

    Energy Technology Data Exchange (ETDEWEB)

    Ventura, Susanna [SRI International, Menlo Park, CA (United States); Bhamidi, Srinivas [SRI International, Menlo Park, CA (United States); Hornbostel, Marc [SRI International, Menlo Park, CA (United States); Nagar, Anoop [SRI International, Menlo Park, CA (United States); Perea, Elisabeth [SRI International, Menlo Park, CA (United States)

    2016-12-16

    The objective of this project was to determine the feasibility of developing a new generation of highly selective low-cost ion-exchange resins based on metal-ion imprinted polymers for the separation of metals from geothermal fluids. Expansion of geothermal energy production over the entire U.S. will involve exploitation of low-to-medium temperature thermal waters. Creating value streams from the recovery of critical and near-critical metals from these thermal waters will encourage geothermal expansion. Selective extraction of metals from geothermal fluids is needed to design a cost-effective process for the recovery of lithium and manganese-two near-critical metals with well-known application in the growing lithium battery industry. We have prepared new lithium- and manganese-imprinted polymers in the form of beads by crosslinking polymerization of a metal polymerizable chelate, where the metal acts as a template. Upon leaching out the metal template, the crosslinked polymer is expected to leave cavities defined by the ligand functional group with enhanced selectivity for binding the template metal. We have demonstrated that lithium- and manganese-imprinted polymer beads can be used as selective solid sorbents for the extraction of lithium and manganese from brines. The polymers were tested both in batch extractions and packed bed lab-scale columns at temperatures of 45-100°C. Lithium-imprinted polymers were found to have Li+ adsorption capacity as high as 2.8 mg Li+/g polymer at 45°C. Manganese-imprinted polymers were found to have a Mn2+ adsorption capacity of more than 23 mg Mn2+/g polymer at 75°C. The Li+ extraction efficiency of the Li-imprinted polymer was found to be more that 95% when a brine containing 390 ppm Li+, 410 ppm Na+, and 390 ppm K+ was passed through a packed bed of the polymer in a lab-scale column at 45°C. In brines containing 360 ppm Li

  5. Distinctive Microbial Community Structure in Highly Stratified Deep-Sea Brine Water Columns

    KAUST Repository

    Bougouffa, Salim; Yang, J. K.; Lee, O. O.; Wang, Y.; Batang, Zenon B.; Al-Suwailem, Abdulaziz M.; Qian, P. Y.

    2013-01-01

    Atlantis II and Discovery are two hydrothermal and hypersaline deep-sea pools in the Red Sea rift that are characterized by strong thermohalo-stratification and temperatures steadily peaking near the bottom. We conducted comprehensive vertical profiling of the microbial populations in both pools and highlighted the influential environmental factors. Pyrosequencing of the 16S rRNA genes revealed shifts in community structures vis-à-vis depth. High diversity and low abundance were features of the deepest convective layers despite the low cell density. Surprisingly, the brine interfaces had significantly higher cell counts than the overlying deep-sea water, yet they were lowest in diversity. Vertical stratification of the bacterial populations was apparent as we moved from the Alphaproteobacteria-dominated deep sea to the Planctomycetaceae- or Deferribacteres-dominated interfaces to the Gammaproteobacteria-dominated brine layers. Archaeal marine group I was dominant in the deep-sea water and interfaces, while several euryarchaeotic groups increased in the brine. Across sites, microbial phylotypes and abundances varied substantially in the brine interface of Discovery compared with Atlantis II, despite the near-identical populations in the overlying deep-sea waters. The lowest convective layers harbored interestingly similar microbial communities, even though temperature and heavy metal concentrations were very different. Multivariate analysis indicated that temperature and salinity were the major influences shaping the communities. The harsh conditions and the low-abundance phylotypes could explain the observed correlation in the brine pools.

  6. Distinctive Microbial Community Structure in Highly Stratified Deep-Sea Brine Water Columns

    KAUST Repository

    Bougouffa, Salim

    2013-03-29

    Atlantis II and Discovery are two hydrothermal and hypersaline deep-sea pools in the Red Sea rift that are characterized by strong thermohalo-stratification and temperatures steadily peaking near the bottom. We conducted comprehensive vertical profiling of the microbial populations in both pools and highlighted the influential environmental factors. Pyrosequencing of the 16S rRNA genes revealed shifts in community structures vis-à-vis depth. High diversity and low abundance were features of the deepest convective layers despite the low cell density. Surprisingly, the brine interfaces had significantly higher cell counts than the overlying deep-sea water, yet they were lowest in diversity. Vertical stratification of the bacterial populations was apparent as we moved from the Alphaproteobacteria-dominated deep sea to the Planctomycetaceae- or Deferribacteres-dominated interfaces to the Gammaproteobacteria-dominated brine layers. Archaeal marine group I was dominant in the deep-sea water and interfaces, while several euryarchaeotic groups increased in the brine. Across sites, microbial phylotypes and abundances varied substantially in the brine interface of Discovery compared with Atlantis II, despite the near-identical populations in the overlying deep-sea waters. The lowest convective layers harbored interestingly similar microbial communities, even though temperature and heavy metal concentrations were very different. Multivariate analysis indicated that temperature and salinity were the major influences shaping the communities. The harsh conditions and the low-abundance phylotypes could explain the observed correlation in the brine pools.

  7. Geochemical evaluation of flowback brine from Marcellus gas wells in Pennsylvania, USA

    International Nuclear Information System (INIS)

    Haluszczak, Lara O.; Rose, Arthur W.; Kump, Lee R.

    2013-01-01

    Large quantities of highly saline brine flow from gas wells in the Marcellus Formation after hydraulic stimulation (“fracking”). This study assesses the composition of these flowback waters from the Marcellus shale in Pennsylvania, USA. Concentrations of most inorganic components of flowback water (Cl, Br, Na, K, Ca, Mg, Sr, Ba, Ra, Fe, Mn, total dissolved solids, and others) increase with time from a well after hydraulic stimulation. Based on results in several datasets reported here, the greatest concentration of Cl − in flowback water is 151,000 mg/L. For total Ra (combined 226 Ra and 228 Ra) in flowback, the highest level reported is 6540 pCi/L. Flowback waters from hydraulic fracturing of Marcellus wells resemble brines produced from conventional gas wells that tap into other Paleozoic formations in the region. The Br/Cl ratio and other parameters indicate that both types of brine formed by the evaporation of seawater followed by dolomitization, sulfate reduction and subsurface mixing with seawater and/or freshwater. Trends and relationships in brine composition indicate that (1) increased salt concentration in flowback is not mainly caused by dissolution of salt or other minerals in rock units, (2) the flowback waters represent a mixture of injection waters with highly concentrated in situ brines similar to those in the other formations, and (3) these waters contain concentrations of Ra and Ba that are commonly hundreds of times the US drinking water standards.

  8. Water Recovery from Brine in the Short and Long Term: A KSC Approach

    Science.gov (United States)

    Lunn, Griffin; Melendez, Orlando; Anthony, Steve

    2014-01-01

    KSC has spent many years researching Hollow Fiber Membrane Bioreactors as well as research encompassing:Alternate ammonia removal/Advanced oxidation. Brine purification technologies KSC-ISRU has built an electrolysis cell for the removal of acids in ISRU mining brines. Our goal is to combine all such technologies.

  9. A review of theories on the origins of saline waters and brines in the Canadian Precambrian Shield

    International Nuclear Information System (INIS)

    Bottomley, D.J.

    1996-02-01

    Groundwater at depths greater that 500 m in the Canadian Precambrian Shield is typically saline with a sodium-calcium/chloride chemical composition. Brines with dissolved solid concentrations exceeding 100 g/L have been encountered in several deep mines (>1000 m) on the Shield. Theories on the origins of these deep saline waters and brines can be grouped into two general categories: (1) autochthonous (in situ) origins attributable to silicate mineral hydrolysis over geologic time scales, leaching of fluid inclusions or radiolysis effects, and (2) allochthonous (external) sources caused by the infiltration of brine of modified seawater origins in the geologic past. Although the chemical and isotopic compositions of these waters clearly reflect the effects of reaction between the water and their silicate host rocks, it is unlikely that the high chlorinity of the brines is in an autochthonous attribute. It is proposed that the compositions of these brines are most compatible with the Paleozoic residual brine hypothesis of Spencer (1987). This theory invokes deep infiltration of a high-density residual brine, formed by the evaporation of seawater during Devonian time, into underlying Precambrian basement rocks where subsequent chemical modifications occurred. (author) 39 refs., 2 figs

  10. State-of-the-art review of brine migration studies in salt. Technical memorandum report RSI-0075

    International Nuclear Information System (INIS)

    Gnirk, P.F.; Krause, W.B.; Fossum, A.F.

    1981-09-01

    This report provides a state-of-the-art review of brine migration studies in rock salt. Emphasis is placed on the review of literature relating to brine migration phenomena around nuclear waste canisters. This review includes experimental work which has been conducted in the laboratory and in the field. In addition to the literature review, some additional thoughts on brine migration are given and a series of laboratory experiments is proposed. The proposed laboratory experiments are designed to determine whether or not a relationship exists between brine migration and temperature, temperature gradient and stress in rock salt. 34 references, 9 figures, 3 tables

  11. Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

    NARCIS (Netherlands)

    Lynch, H.T.; Riegert-Johnson, D.L.; Snyder, C.; Lynch, J.F.; Hagenkord, J.; Boland, C.R.; Rhees, J.; Thibodeau, S.N.; Boardman, L.A.; Davies, J.; Kuiper, R.P.; Hoogerbrugge, N.; Ligtenberg, M.J.L.

    2011-01-01

    OBJECTIVES: The Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2. Some

  12. Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

    Science.gov (United States)

    ten Broeke, Sanne W; Brohet, Richard M; Tops, Carli M; van der Klift, Heleen M; Velthuizen, Mary E; Bernstein, Inge; Capellá Munar, Gabriel; Gomez Garcia, Encarna; Hoogerbrugge, Nicoline; Letteboer, Tom G W; Menko, Fred H; Lindblom, Annika; Mensenkamp, Arjen R; Moller, Pal; van Os, Theo A; Rahner, Nils; Redeker, Bert J W; Sijmons, Rolf H; Spruijt, Liesbeth; Suerink, Manon; Vos, Yvonne J; Wagner, Anja; Hes, Frederik J; Vasen, Hans F; Nielsen, Maartje; Wijnen, Juul T

    2015-02-01

    The clinical consequences of PMS2 germline mutations are poorly understood compared with other Lynch-associated mismatch repair gene (MMR) mutations. The aim of this European cohort study was to define the cancer risk faced by PMS2 mutation carriers. Data were collected from 98 PMS2 families ascertained from family cancer clinics that included a total of 2,548 family members and 377 proven mutation carriers. To adjust for potential ascertainment bias, a modified segregation analysis model was used to calculate colorectal cancer (CRC) and endometrial cancer (EC) risks. Standardized incidence ratios (SIRs) were calculated to estimate risks for other Lynch syndrome-associated cancers. The cumulative risk (CR) of CRC for male mutation carriers by age 70 years was 19%. The CR among female carriers was 11% for CRC and 12% for EC. The mean age of CRC development was 52 years, and there was a significant difference in mean age of CRC between the probands (mean, 47 years; range, 26 to 68 years) and other family members with a PMS2 mutation (mean, 58 years; range, 31 to 86 years; P PMS2 mutation, and it should be noted that we observed a substantial variation in cancer phenotype within and between families, suggesting the influence of genetic modifiers and lifestyle factors on cancer risks. © 2014 by American Society of Clinical Oncology.

  13. Meltability and Stretchability of White Brined Cheese: Effect of Emulsifier Salts

    OpenAIRE

    Khaled Abu-Alruz; Ayman S. Mazahreh; Ali F. Al-Shawabkeh; Amer A. Omari; Jihad M. Quasem

    2009-01-01

    Problem statement: This study was based on the hypothesis that by adding low concentrations of emulsifier salts, may specifically act on the cross linking bonds of the protein matrix, to the original brine (storage medium) it would be possible to induce meltability and stretchability in white brined cheese. Approach: A new apparatus for measuring the actual stretchability was designed and constructed; measurements on different cheese samples proved its validity and reliability to measure stre...

  14. Uranium, RADON and radon isotopes in selected brines of Poland

    International Nuclear Information System (INIS)

    Kozlowska, B.; Walencik, A.; Zipper, W.; Dorda, J.; Przylibski, T.A.

    2010-01-01

    Natural radioactive isotopes were studied in nine different types of brines from four locations in Poland. Investigated brines are exploited from various geological structures composed of the rocks of different chemical and mineral composition as well as different age and depth. All investigated brines are used in balneotherapy (i.e. baths, inhalations, showers). The main goal of this study was to obtain some basic knowledge on the activity range of natural elements such as uranium, RADON and radon in different brine types in Poland and their variability depending on their location in certain geological structures. Activities of 234,238 U, 226,228 Ra and 222 Rn isotopes were measured with the use of two nuclear spectrometry techniques: liquid scintillation and alpha spectrometry. The activity concentrations of 222 Rn vary from below 1 to 76.1±3.7 Bq/l, for the 226 Ra isotope from 0.19±0.01 to 85.5±0.4 Bq/l and for 228 Ra from below 0.03 to 2.17±0.09 Bq/l. For uranium isotopes, the concentrations are in the range from below 0.5 to 5.1±0.4 mBq/l for 238 U and from 1.6±0.4 to 45.6±2.0 mBq/l for 2 34U . The obtained results indicate high RADON activity concentrations corresponding to high mineralization of waters. (authors)

  15. Brine shrimp lethality and antibacterial activity of extracts from the bark of Schleichera oleosa

    Directory of Open Access Journals (Sweden)

    Laxman Pokhrel

    2015-08-01

    Full Text Available Objective: To determine the antibacterial efficacy and brine shrimp toxicity of extracts (hexane, dichloromethane, ethyl acetate, methanol and water obtained from the bark of Schleichera oleosa. Methods: The powdered bark sample was Soxhlet extracted sequentially in hexanes, dichloromethane, ethyl acetate, methanol and water. Antibacterial evaluation was carried out by following the agar diffusion method and amoxicillin disc was used as a reference. Slightly modified Meyer’s method was used to determine the toxicity of the extracts in brine shrimps. Results: Among the nine bacterial strains tested, the methanolic and aqueous extracts showed promising antibacterial efficacy against Serratia marcescens, Escherarichia coli, Bacillus subtilis and Micrococcus luteus. None of the extracts were found significantly toxic to brine shrimps. Conclusions: Strong antibacterial activity and low brine shrimp toxicity of methanolic and aqueous extracts can provide new antibacterial compounds.

  16. Formation of brine channels in sea ice.

    Science.gov (United States)

    Morawetz, Klaus; Thoms, Silke; Kutschan, Bernd

    2017-03-01

    Liquid salty micro-channels (brine) between growing ice platelets in sea ice are an important habitat for CO 2 -binding microalgaea with great impact on polar ecosystems. The structure formation of ice platelets is microscopically described and a phase field model is developed. The pattern formation during solidification of the two-dimensional interstitial liquid is considered by two coupled order parameters, the tetrahedricity as structure of ice and the salinity. The coupling and time evolution of these order parameters are described by a consistent set of three model parameters. They determine the velocity of the freezing process and the structure formation, the phase diagram, the super-cooling and super-heating region, and the specific heat. The model is used to calculate the short-time frozen micro-structures. The obtained morphological structure is compared with the vertical brine pore space obtained from X-ray computed tomography.

  17. Brine flow up a borehole caused by pressure perturbation from CO2 storage: Static and dynamic evaluations

    Energy Technology Data Exchange (ETDEWEB)

    Birkholzer, J.T.; Nicot, J.-P.; Oldenburg, C.M.; Zhou, Q.; Kraemer, S.; Bandilla, K.W.

    2011-05-01

    Industrial-scale storage of CO{sub 2} in saline sedimentary basins will cause zones of elevated pressure, larger than the CO{sub 2} plume itself. If permeable conduits (e.g., leaking wells) exist between the injection reservoir and overlying shallow aquifers, brine could be pushed upwards along these conduits and mix with groundwater resources. This paper discusses the potential for such brine leakage to occur in temperature- and salinity-stratified systems. Using static mass-balance calculations as well as dynamic well flow simulations, we evaluate the minimum reservoir pressure that would generate continuous migration of brine up a leaking wellbore into a freshwater aquifer. Since the brine invading the well is denser than the initial fluid in the wellbore, continuous flow only occurs if the pressure perturbation in the reservoir is large enough to overcome the increased fluid column weight after full invasion of brine into the well. If the threshold pressure is exceeded, brine flow rates are dependent on various hydraulic (and other) properties, in particular the effective permeability of the wellbore and the magnitude of pressure increase. If brine flow occurs outside of the well casing, e.g., in a permeable fracture zone between the well cement and the formation, the fluid/solute transfer between the migrating fluid and the surrounding rock units can strongly retard brine flow. At the same time, the threshold pressure for continuous flow to occur decreases compared to a case with no fluid/solute transfer.

  18. Performance evaluation of a once-through multi-stage flash distillation system: Impact of brine heater fouling

    International Nuclear Information System (INIS)

    Baig, Hasan; Antar, Mohamed A.; Zubair, Syed M.

    2011-01-01

    Multi-stage flash distillation (MSF) system modeling involves a number of process variables. An estimation of all these process variables requires both analytical solutions and experimental/field analysis. However, the accurate estimate of variables related to the brine heater operation in a MSF system is very important for a reliable operation of the system. For example, steam operating conditions as well as the brine properties including fouling of the brine heater tubes have a significant effect on the heat transfer characteristics of the brine heater, which in turn influence the distillate output from the system. In this study, the effect of various design as well as operating conditions on the performance ratio (PR), brine temperature and salinity as it leaves the last flash stage are investigated in a once-through system. Increasing the number of stages from 24 to 32 has a significant effect on the PR, it ranges between 79% (for ΔT = 1.5) and 327% (for ΔT = 2.3) for a top-brine temperature of 106 o C. This value increase as the top-brine temperature increases. Increasing the stage-to-stage temperature difference increases the water salinity as it leaves the final stage and reduces its temperature that would imply better energy utilization within the plant. Results show that brine side heat exchanger fouling has a significant effect in decreasing the overall heat transfer coefficient, which reduces the production rate as the fouling increases with time. A sensitivity analysis to identify the key parameters, which can have a significant influence on the desalination plant performance, is carried out in an attempt to contribute a better understanding and operation of MSF desalination processes.

  19. Cell cycle–related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients

    Science.gov (United States)

    Chen, Jinyun; Pande, Mala

    2013-01-01

    Heterogeneity in age of onset of colorectal cancer in individuals with mutations in DNA mismatch repair genes (Lynch syndrome) suggests the influence of other lifestyle and genetic modifiers. We hypothesized that genes regulating the cell cycle influence the observed heterogeneity as cell cycle–related genes respond to DNA damage by arresting the cell cycle to provide time for repair and induce transcription of genes that facilitate repair. We examined the association of 1456 single nucleotide polymorphisms (SNPs) in 128 cell cycle–related genes and 31 DNA repair–related genes in 485 non-Hispanic white participants with Lynch syndrome to determine whether there are SNPs associated with age of onset of colorectal cancer. Genotyping was performed on an Illumina GoldenGate platform, and data were analyzed using Kaplan–Meier survival analysis, Cox regression analysis and classification and regression tree (CART) methods. Ten SNPs were independently significant in a multivariable Cox proportional hazards regression model after correcting for multiple comparisons (P Lynch syndrome. PMID:23125224

  20. Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients.

    Science.gov (United States)

    Chen, Jinyun; Pande, Mala; Huang, Yu-Jing; Wei, Chongjuan; Amos, Christopher I; Talseth-Palmer, Bente A; Meldrum, Cliff J; Chen, Wei V; Gorlov, Ivan P; Lynch, Patrick M; Scott, Rodney J; Frazier, Marsha L

    2013-02-01

    Heterogeneity in age of onset of colorectal cancer in individuals with mutations in DNA mismatch repair genes (Lynch syndrome) suggests the influence of other lifestyle and genetic modifiers. We hypothesized that genes regulating the cell cycle influence the observed heterogeneity as cell cycle-related genes respond to DNA damage by arresting the cell cycle to provide time for repair and induce transcription of genes that facilitate repair. We examined the association of 1456 single nucleotide polymorphisms (SNPs) in 128 cell cycle-related genes and 31 DNA repair-related genes in 485 non-Hispanic white participants with Lynch syndrome to determine whether there are SNPs associated with age of onset of colorectal cancer. Genotyping was performed on an Illumina GoldenGate platform, and data were analyzed using Kaplan-Meier survival analysis, Cox regression analysis and classification and regression tree (CART) methods. Ten SNPs were independently significant in a multivariable Cox proportional hazards regression model after correcting for multiple comparisons (P Lynch syndrome.

  1. Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability

    OpenAIRE

    Umar, Asad; Boland, C. Richard; Terdiman, Jonathan P.; Syngal, Sapna; de la Chapelle, Albert; Rüschoff, Josef; Fishel, Richard; Lindor, Noralane M.; Burgart, Lawrence J.; Hamelin, Richard; Hamilton, Stanley R.; Hiatt, Robert A.; Jass, Jeremy; Lindblom, Annika; Lynch, Henry T.

    2004-01-01

    Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, neoplastic lesions, and microsatellite instability (MSI). Because cancers with MSI account for approximately 15% of all colorectal cancers and because of the need for a better understanding of the clinical and histologic manifestations of HNPCC, the National Cancer Institute hosted an international workshop on HNPCC in 1996, which led to...

  2. Quarterly brine migration data report, May-September 1983: Nuclear Waste Repository simulation experiments (brine migration), Asse Mine of the Federal Republic of Germany

    International Nuclear Information System (INIS)

    Coyle, A.J.; Kalia, H.N.; Eckert, J.L.

    1987-04-01

    The first quarterly brine migration data report describes experiments simulating a nuclear waste repository at the 800-m (2624-ft) level of the Asse Salt Mine in the Federal Republic of Germany from May 1983 through September 1983. This report describes the test equipment, the Asse Salt Mine, and the pretest properties of the salt in the test gallery. This report also includes test data for the first 4 months of operations on brine migration rates, borehole pressure, salt temperatures, and thermomechanical behavior of the salt. The duration of the experiments will be approximately 2 years, ending in December 1985. 83 figs., 55 tabs

  3. Subtotal Colectomy for Colon Cancer Reduces the Need for Subsequent Surgery in Lynch Syndrome.

    Science.gov (United States)

    Renkonen-Sinisalo, Laura; Seppälä, Toni T; Järvinen, Heikki J; Mecklin, Jukka-Pekka

    2017-08-01

    The risk of metachronous colorectal cancer is high after surgical resection for first colon cancer in Lynch syndrome. This study aimed to examine whether extended surgery decreases the risk of subsequent colorectal cancer and improves long-term survival. This was a retrospective study. Data were collected from a nationwide registry. Two hundred forty-two Lynch syndrome pathogenic variant carriers who underwent surgery for a first colon cancer from 1984 to 2009 were included. Patients underwent standard segmental colectomy (n = 144) or extended colectomy (n = 98) for colon cancer. Patients were followed a median of 14.6 up to 25 years. Risk of subsequent colorectal cancer in either group, overall and disease-specific survival, and operative mortality were the primary outcomes measured. Subtotal colectomy decreased the risk of subsequent colorectal cancer (HR, 0.20; 95% CI, 0.08-0.52; p = 0.001), compared with segmental resection. Subsequent colorectal cancer decreased in MLH1 carriers. The MSH2 carriers showed no statistical difference, possibly because of their small number. Disease-specific and overall survival within 25 years did not differ between the standard and extended surgeries (82.7% vs 87.2%, p = 0.76 and 47.2% vs 41.4%, p = 0.83). The cumulative risk of subsequent colorectal cancer was 20% in 10 years and 47% within 25 years after standard resection and 4% and 9% after extended surgery. The cumulative risk of metachronous colorectal cancer was 7% within 25 years after subtotal colectomy with ileosigmoidal anastomosis. One patient died of postoperative septicemia within 30 days after segmental colectomy. Data on surgical procedures were primarily collected retrospectively. Lynch syndrome pathogenic variant carriers may undergo subtotal colectomy to manage first colon cancer and avoid repetitive abdominal surgery and to reduce the remaining bowel to facilitate easier endoscopic surveillance. It provides no survival benefit, compared with segmental colon

  4. Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.

    Science.gov (United States)

    Guindalini, Rodrigo Santa Cruz; Win, Aung Ko; Gulden, Cassandra; Lindor, Noralane M; Newcomb, Polly A; Haile, Robert W; Raymond, Victoria; Stoffel, Elena; Hall, Michael; Llor, Xavier; Ukaegbu, Chinedu I; Solomon, Ilana; Weitzel, Jeffrey; Kalady, Matthew; Blanco, Amie; Terdiman, Jonathan; Shuttlesworth, Gladis A; Lynch, Patrick M; Hampel, Heather; Lynch, Henry T; Jenkins, Mark A; Olopade, Olufunmilayo I; Kupfer, Sonia S

    2015-11-01

    African Americans (AAs) have the highest incidence of and mortality resulting from colorectal cancer (CRC) in the United States. Few data are available on genetic and nongenetic risk factors for CRC among AAs. Little is known about cancer risks and mutations in mismatch repair (MMR) genes in AAs with the most common inherited CRC condition, Lynch syndrome. We aimed to characterize phenotype, mutation spectrum, and risk of CRC in AAs with Lynch syndrome. We performed a retrospective study of AAs with mutations in MMR genes (MLH1, MSH2, MSH6, and PMS2) using databases from 13 US referral centers. We analyzed data on personal and family histories of cancer. Modified segregation analysis conditioned on ascertainment criteria was used to estimate age- and sex-specific CRC cumulative risk, studying members of the mutation-carrying families. We identified 51 AA families with deleterious mutations that disrupt function of the MMR gene product: 31 in MLH1 (61%), 11 in MSH2 (21%), 3 in MSH6 (6%), and 6 in PMS2 (12%); 8 mutations were detected in more than 1 individual, and 11 have not been previously reported. In the 920 members of the 51 families with deleterious mutations, the cumulative risks of CRC at 80 years of age were estimated to be 36.2% (95% confidence interval [CI], 10.5%-83.9%) for men and 29.7% (95% CI, 8.31%-76.1%) for women. CRC risk was significantly higher among individuals with mutations in MLH1 or MSH2 (hazard ratio, 13.9; 95% CI, 3.44-56.5). We estimate the cumulative risk for CRC in AAs with MMR gene mutations to be similar to that of individuals of European descent with Lynch syndrome. Two-thirds of mutations were found in MLH1, some of which were found in multiple individuals and some that have not been previously reported. Differences in mutation spectrum are likely to reflect the genetic diversity of this population. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

  5. Disposal/recovery options for brine waters from oil and gas production in New York State. Final report

    Energy Technology Data Exchange (ETDEWEB)

    Matsumoto, M.R.; Atkinson, J.F.; Bunn, M.D.; Hodge, D.S.

    1996-03-01

    Produced water from oil and gas operations, or brine as it is typically referred, may be characterized as being highly saline, with total dissolved solids greater than 100 g/L. If these bribes are disposed improperly there may be severe adverse environmental effects. Thus, it is important that brine be disposed using environmentally sound methods. Unfortunately, costs for the disposal of brine water are a significant burden to oil and gas producers in New York State. These costs and the relatively low market price of oil and natural gas have contributed to the decline in gas and oil production in New York State during the past 10 years. The objectives of this study were to evaluate new and existing options for brine disposal in New York State, examine the technical and economic merits of these options, and assess environmental impacts associated with each option. Two new disposal options investigated for New York State oil and gas producers included construction of a regional brine treatment facility to treat brine prior to discharge into a receiving water and a salt production facility that utilizes produced water as a feed stock. Both options are technically feasible; however, their economic viability depends on facility size and volume of brine treated.

  6. Disposal/recovery options for brine waters from oil and gas production in New York State. Final report

    International Nuclear Information System (INIS)

    Matsumoto, M.R.; Atkinson, J.F.; Bunn, M.D.; Hodge, D.S.

    1996-03-01

    Produced water from oil and gas operations, or brine as it is typically referred, may be characterized as being highly saline, with total dissolved solids greater than 100 g/L. If these bribes are disposed improperly there may be severe adverse environmental effects. Thus, it is important that brine be disposed using environmentally sound methods. Unfortunately, costs for the disposal of brine water are a significant burden to oil and gas producers in New York State. These costs and the relatively low market price of oil and natural gas have contributed to the decline in gas and oil production in New York State during the past 10 years. The objectives of this study were to evaluate new and existing options for brine disposal in New York State, examine the technical and economic merits of these options, and assess environmental impacts associated with each option. Two new disposal options investigated for New York State oil and gas producers included construction of a regional brine treatment facility to treat brine prior to discharge into a receiving water and a salt production facility that utilizes produced water as a feed stock. Both options are technically feasible; however, their economic viability depends on facility size and volume of brine treated

  7. Experimental evaporation of hyperacid brines: Effects on chemical composition and chlorine isotope fractionation

    Science.gov (United States)

    Rodríguez, Alejandro; van Bergen, Manfred J.; Eggenkamp, H. G. M.

    2018-02-01

    Hyperacid brines from active volcanic lakes are some of the chemically most complex aqueous solutions on Earth. Their compositions provide valuable insights into processes of elemental transfer from a magma body to the surface and interactions with solid rocks and the atmosphere. This paper describes changes in chemical and δ37Cl signatures observed in a 1750 h isothermal evaporation experiment on hyperacid (pH 0.1) sulphate-chloride brine water from the active lake of Kawah Ijen volcano (Indonesia). Although gypsum was the only evaporite mineral identified in the evolving brine, decreasing Si concentrations may ultimately result in amorphous silica precipitation. Geochemical simulations predict the additional formation of elemental sulphur at lower water activities (aH2O ≤ 0.65) that were not reached in the experiment. Absence of other sulphates and halides despite the high load of dissolved elements (initial TDS ca. 100 g/kg) can be attributed to increased solubility of metals, promoted by extensive formation of complexes between the variety of cations and the major anions (HSO4-, Cl-, F-) present. Chlorine deviations from a conservative behaviour point to losses of gaseous hydrogen chloride (HCl(g)) and consequently an increase in Br/Cl ratios. Chlorine isotope fractionation that accompanied the escape of HCl(g) showed a marked change in sign and magnitude in the course of progressive evaporation of the brine. The calculated factor of fractionation between HCl(g) and dissolved Cl for the initial interval (before 500 h) is positive (1000lnαHCl(g)-Cldiss. = + 1.55 ± 0.49‰to + 3.37 ± 1.11‰), indicating that, at first, the escaping HCl(g) was isotopically heavier than the dissolved Cl remaining in the brine. Conversely, fractionation shifted to the opposite direction in the subsequent interval (1000lnαHCl(g)-Cldiss. = 5.67 ± 0.17‰to - 5.64 ± 0.08‰), in agreement with values reported in literature. It is proposed that Cl isotopic fractionation in

  8. Recovery of biomolecules from marinated herring (Clupea harengus) brine using ultrafiltration through ceramic membranes

    DEFF Research Database (Denmark)

    Gringer, Nina; Hosseini, Seyed Vali; Svendsen, Tore

    2015-01-01

    Marinated herring processing brines, which are usually discarded, are rich in salt, protein, non-protein nitrogen, iron, fatty acids, antioxidant and even possess enzymatic activity. This study investigated the performance of ceramic ultrafiltration of two herring spice brines with a major focus...

  9. Design calculations for a combined ventilation and brine injection experiment at the Grimsel Rock Laboratory, Switzerland

    International Nuclear Information System (INIS)

    Finsterle, S.; Pruess, K.

    1993-07-01

    A combined ventilation and brine injection test is planned at the Grimsel Test Site. The objective of the experiment is to study the transport of liquid and gas in the vicinity of a ventilated drift in order to evaluate the impact of the drying process on the characterization of the rock matrix. The proposed test sequence includes a desaturation-resaturation cycle. In addition, brine and fresh water will be injected from a borehole as trace electrolytes in order to better track the propagation of the individual phases. Results of design calculations using the TOUGH2 code show that injection of brine may significantly influence the unsaturated flow behavior by changing the pressure and saturation distribution around the borehole. Transport velocity is predicted to be very slow, requiring several months for the brine to reach the draft wall. However, the presence of preferential flow paths may reduce travel time and alter brine content and saturation distribution so that certain sensors may respond earlier or not at all

  10. Slumping of brine mounds : bounds on behaviour

    NARCIS (Netherlands)

    Philips, J.R.; Duijn, van C.J.

    1996-01-01

    Two modifications of the approximate analysis of interface motion during two-fluid density-driven flows of De Josselin de Jong (Proc. Euromech., 143: 75–82, 1981) are applied to the slumping of finite two-dimensional and axisymmetric brine mounds. Both lead to simple similarity solutions. One

  11. Genetic anticipation in Swedish Lynch syndrome families

    DEFF Research Database (Denmark)

    von Salomé, Jenny; Boonstra, Philip S; Karimi, Masoud

    2017-01-01

    Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have......-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2...... families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age...

  12. Fermentation cover brine reformulation for cucumber processing with low salt to reduce bloater defect

    Science.gov (United States)

    Reformulation of calcium chloride cover brine for cucumber fermentation was explored as a mean to minimize the incidence of bloater defect. This study particularly focused on cover brine supplementation with calcium hydroxide, sodium chloride (NaCl), and acids to enhance buffer capacity, inhibit the...

  13. Recovery of Lithium from Geothermal Brine with Lithium-Aluminum Layered Double Hydroxide Chloride Sorbents.

    Science.gov (United States)

    Paranthaman, Mariappan Parans; Li, Ling; Luo, Jiaqi; Hoke, Thomas; Ucar, Huseyin; Moyer, Bruce A; Harrison, Stephen

    2017-11-21

    We report a three-stage bench-scale column extraction process to selectively extract lithium chloride from geothermal brine. The goal of this research is to develop materials and processing technologies to improve the economics of lithium extraction and production from naturally occurring geothermal and other brines for energy storage applications. A novel sorbent, lithium aluminum layered double hydroxide chloride (LDH), is synthesized and characterized with X-ray powder diffraction, scanning electron microscopy, inductively coupled plasma optical emission spectrometry (ICP-OES), and thermogravimetric analysis. Each cycle of the column extraction process consists of three steps: (1) loading the sorbent with lithium chloride from brine; (2) intermediate washing to remove unwanted ions; (3) final washing for unloading the lithium chloride ions. Our experimental analysis of eluate vs feed concentrations of Li and competing ions demonstrates that our optimized sorbents can achieve a recovery efficiency of ∼91% and possess excellent Li apparent selectivity of 47.8 compared to Na ions and 212 compared to K ions, respectively in the brine. The present work demonstrates that LDH is an effective sorbent for selective extraction of lithium from brines, thus offering the possibility of effective application of lithium salts in lithium-ion batteries leading to a fundamental shift in the lithium supply chain.

  14. Pancreatic non-functioning neuroendocrine tumor: a new entity genetically related to Lynch syndrome

    OpenAIRE

    Serracant Barrera, Anna; Serra Pla, Sheila; Blázquez Maña, Carmen María; Salas, Rubén Carrera; García Monforte, Neus; Bejarano González, Natalia; Romaguera Monzonis, Andreu; Andreu Navarro, Francisco Javier; Bella Cueto, Maria Rosa; Borobia, Francisco G.

    2017-01-01

    Some pancreatic neuroendocrine tumors (P-NETs) are associated with hereditary syndromes. An association between Lynch syndrome (LS) and P-NETs has been suggested, however it has not been confirmed to date. We describe the first case associating LS and P-NETs. Here we report a 65-year-old woman who in the past 20 years presented two colorectal carcinomas (CRC) endometrial carcinoma (EC), infiltrating ductal breast carcinoma, small intestine adenocarcinoma, two non-functioning P-NETs and seboma...

  15. Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.

    Science.gov (United States)

    Johnatty, Sharon E; Tan, Yen Y; Buchanan, Daniel D; Bowman, Michael; Walters, Rhiannon J; Obermair, Andreas; Quinn, Michael A; Blomfield, Penelope B; Brand, Alison; Leung, Yee; Oehler, Martin K; Kirk, Judy A; O'Mara, Tracy A; Webb, Penelope M; Spurdle, Amanda B

    2017-11-01

    To determine endometrial cancer (EC) risk according to family cancer history, including assessment by degree of relatedness, type of and age at cancer diagnosis of relatives. Self-reported family cancer history was available for 1353 EC patients and 628 controls. Logistic regression was used to quantify the association between EC and cancer diagnosis in ≥1 first or second degree relative, and to assess whether level of risk differed by degree of relationship and/or relative's age at diagnosis. Risk was also evaluated for family history of up to three cancers from known familial syndromes (Lynch, Cowden, hereditary breast and ovarian cancer) overall, by histological subtype and, for a subset of 678 patients, by EC tumor mismatch repair (MMR) gene expression. Report of EC in ≥1 first- or second-degree relative was associated with significantly increased risk of EC (P=3.8×10 -7 ), independent of lifestyle risk factors. There was a trend in increasing EC risk with closer relatedness and younger age at EC diagnosis in relatives (P Trend =4.43×10 -6 ), and with increasing numbers of Lynch cancers in relatives (P Trend ≤0.0001). EC risk associated with family history did not differ by proband tumor MMR status, or histological subtype. Reported EC in first- or second-degree relatives remained associated with EC risk after conservative correction for potential misreported family history (OR 2.0; 95% CI, 1.24-3.37, P=0.004). The strongest predictor of EC risk was closer relatedness and younger EC diagnosis age in ≥1 relative. Associations remained significant irrespective of proband MMR status, and after excluding MMR pathogenic variant carriers, indicating that Lynch syndrome genes do not fully explain familial EC risk. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Consolidation and permeability of salt in brine

    International Nuclear Information System (INIS)

    Shor, A.J.; Baes, C.F. Jr.; Canonico, C.M.

    1981-07-01

    The consolidation and loss of permeability of salt crystal aggregates, important in assessing the effects of water in salt repositories, has been studied as a function of several variables. The kinetic behavior was similar to that often observed in sintering and suggested the following expression for the time dependence of the void fraction: phi(t) = phi(0) - (A/B)ln(1 + Bt/z(0) 3 ), where A and B are rate constants and z(0) is initial average particle size. With brine present, A and phi(0) varied linearly with stress. The initial void fraction was also dependent to some extent on the particle size distribution. The rate of consolidation was most rapid in brine and least rapid in the presence of only air as the fluid. A brine containing 5 m MgCl 2 showed an intermediate rate, presumably because of the greatly reduced solubility of NaCl. A substantial wall effect was indicated by an observed increase in the void fraction of consolidated columns with distance from the top where the stress was applied and by a dependence of consolidation rate on the column height and radius. The distance through which the stress fell by a factor of phi was estimated to change inversely as the fourth power of the column diameter. With increasing temperature (to 85 0 C), consolidation proceeded somewhat more rapidly and the wall effect was reduced. The permeability of the columns dropped rapidly with consolidation, decreasing with about the sixth power of the void fraction. In general, extrapolation of the results to repository conditions confirms the self-sealing properties of bedded salt as a storage medium for radioactive waste

  17. Towards gene-and gender-based risk estimates in Lynch syndrome; Age-specific incidences for 13 extra-colorectal cancer types

    DEFF Research Database (Denmark)

    Therkildsen, Christina; Ladelund, Steen; Smith-Hansen, Lars

    2017-01-01

    Background:In Lynch syndrome, inherited mismatch repair (MMR) defects predispose to colorectal cancer and to a wide spectrum of extra-colorectal tumours. Utilising a cohort study design, we aimed to determine the risk of extra-colorectal cancer and to identify yet unrecognised tumour types...... were identified for 13 cancer types with differences related to gender, age and disease-predisposing gene. The different cancer types showed variable peak age incidence rates (IRs) with the highest IRs for ovarian cancer at age 30-49 years, for endometrial cancer, breast cancer, renal cell cancer...... and brain tumours at age 50-69 years, and for urothelial cancer, small bowel cancer, gastric cancer, pancreatic cancer and skin tumours after age 70.Conclusions:The broad spectrum of tumour types that develop at an increased incidence defines Lynch syndrome as a multi-tumour syndrome. The variable...

  18. Surface Complexation Modeling of Calcite Zeta Potential Measurement in Mixed Brines for Carbonate Wettability Characterization

    Science.gov (United States)

    Song, J.; Zeng, Y.; Biswal, S. L.; Hirasaki, G. J.

    2017-12-01

    We presents zeta potential measurements and surface complexation modeling (SCM) of synthetic calcite in various conditions. The systematic zeta potential measurement and the proposed SCM provide insight into the role of four potential determining cations (Mg2+, SO42- , Ca2+ and CO32-) and CO2 partial pressure in calcite surface charge formation and facilitate the revealing of calcite wettability alteration induced by brines with designed ionic composition ("smart water"). Brines with varying potential determining ions (PDI) concentration in two different CO2 partial pressure (PCO2) are investigated in experiments. Then, a double layer SCM is developed to model the zeta potential measurements. Moreover, we propose a definition for contribution of charged surface species and quantitatively analyze the variation of charged species contribution when changing brine composition. After showing our model can accurately predict calcite zeta potential in brines containing mixed PDIs, we apply it to predict zeta potential in ultra-low and pressurized CO2 environments for potential applications in carbonate enhanced oil recovery including miscible CO2 flooding and CO2 sequestration in carbonate reservoirs. Model prediction reveals that pure calcite surface will be positively charged in all investigated brines in pressurized CO2 environment (>1atm). Moreover, the sensitivity of calcite zeta potential to CO2 partial pressure in the various brine is found to be in the sequence of Na2CO3 > Na2SO4 > NaCl > MgCl2 > CaCl2 (Ionic strength=0.1M).

  19. Production and characterization of a functional Iranian white brined cheese by replacement of dairy fat with vegetable oils.

    Science.gov (United States)

    Achachlouei, B Fathi; Hesari, J; Damirchi, S Azadmard; Peighambardoust, Sh; Esmaiili, M; Alijani, S

    2013-10-01

    Full-fat cheese usually contains high amounts of saturated fatty acids and cholesterol, which may have negative health effects. In this study, full-fat white brined cheese, as a control sample, and experimental cheeses with olive and canola oils (T1, white brined cheese containing 50% canola oil, T2, white brined cheese containing 50% olive oil, T3, white brined cheese containing 100% canola oil and T4, white brined cheese containing 100% olive oil) were prepared from bovine milk. Physicochemical properties, lipolysis, proteolysis patterns and sensorial properties in the prepared samples were determined during 80 days of storage at 20-day intervals. Cheese incorporating vegetable oils showed lower amounts of saturated fatty acids and higher amounts of unsaturated fatty acids compared with the full-fat cheese (control) samples. Moisture, pH, lipolysis value, as assessed by the acid-degree value, and proteolysis values (pH 4.6 SN/TN% and NPN/TN%) significantly (p titrable acidity decreased during 40 days of ripening but then increased slightly. Sensory properties of white brined cheese incorporating with vegetable oils were different from those of full-fat cheese samples. White brined cheese containing olive and canola oils (100% fat substitution) received better sensory scores compared to other samples. The results showed that it is possible to replace dairy fat with olive and canola oils, which can lead to produce a new healthy and functional white brined cheese.

  20. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

    Science.gov (United States)

    Talseth-Palmer, Bente A; McPhillips, Mary; Groombridge, Claire; Spigelman, Allan; Scott, Rodney J

    2010-05-21

    Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mutation type, cancer risk and age of diagnosis in MSH6 and PMS2 families. A total of 78 participants (from 29 families) with a mutation in MSH6 and 7 participants (from 6 families) with a mutation in PMS2 were included in the current study. A database of de-identified patient information was analysed to extract all relevant information such as mutation type, cancer incidence, age of diagnosis and cancer type in this Lynch syndrome cohort. Cumulative lifetime risk was calculated utilising Kaplan-Meier survival analysis. MSH6 and PMS2 mutations represent 10.3% and 1.9%, respectively, of the pathogenic mutations in our Australian Lynch syndrome families. We identified 26 different MSH6 and 4 different PMS2 mutations in the 35 families studied. We report 15 novel MSH6 and 1 novel PMS2 mutations. The estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females) and 65% for endometrial cancer in MSH6 mutation carriers. The risk of developing CRC is different between males and females at age 50 years, which is 34% for males and 21% for females. Novel MSH6 and PMS2 mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations. Our data provides additional information to add to the genotype-phenotype spectrum for both MSH6 and PMS2 mutations.

  1. Development of a Rapid, Nondestructive Method to Measure Aqueous Carbonate in High Salinity Brines Using Raman Spectroscopy

    Science.gov (United States)

    McGraw, L.; Phillips-Lander, C. M.; Elwood Madden, A. S.; Parnell, S.; Elwood Madden, M.

    2015-12-01

    Traditional methods of quantitative analysis are often ill-suited to determining the bulk chemistry of high salinity brines due to their corrosive and clogging properties. Such methods are also often difficult to apply remotely in planetary environments. However, Raman spectroscopy can be used remotely without physical contact with the fluid and is not affected by many ionic brines. Developing methods to study aqueous carbonates is vital to future study of brines on Mars and other planetary bodies, as they can reveal important information about modern and ancient near-surface aqueous processes. Both sodium carbonate standards and unknown samples from carbonate mineral dissolution experiments in high salinity brines were analyzed using a 532 nm laser coupled to an inVia Renishaw spectrometer to collect carbonate spectra from near-saturated sodium chloride and sodium sulfate brines. A calibration curve was determined by collecting spectra from solutions of known carbonate concentrations mixed with a pH 13 buffer and a near-saturated NaCl or Na2SO4 brine matrix. The spectra were processed and curve fitted to determine the height ratio of the carbonate peak at 1066 cm-1 to the 1640 cm-1 water peak. The calibration curve determined using the standards was then applied to the experimental data after accounting for dilutions. Concentrations determined based on Raman spectra were compared against traditional acid titration measurements. We found that the two techniques vary by less than one order of magnitude. Further work is ongoing to verify the method and apply similar techniques to measure aqueous carbonate concentrations in other high salinity brines.Traditional methods of quantitative analysis are often ill-suited to determining the bulk chemistry of high salinity brines due to their corrosive and clogging properties. Such methods are also often difficult to apply remotely in planetary environments. However, Raman spectroscopy can be used remotely without physical

  2. Influence of radiolytic products on the chemistry of uranium VI in brines

    International Nuclear Information System (INIS)

    Lucchini, J-F.; Reed, D.T.; Borkowski, M.; Rafalski, A.; Conca, J.

    2004-01-01

    In the near field of a salt repository of nuclear waste, ionizing radiations can strongly affect the chemistry of concentrated saline solutions. Radiolysis can locally modify the redox conditions, speciation, solubility and mobility of the actinide compounds. In the case of uranium VI, radiolytic products can not only reduce U(VI), but also react with uranium species. The net effect on the speciation of uranyl depends on the relative kinetics of the reactions and the buildup of molecular products in brine solutions. The most important molecular products in brines are expected to be hypochlorite ion, hypochlorous acid and hydrogen peroxide. Although U(VI) is expected not to be significantly affected by radiolysis, the combined effects of the major molecular radiolytic products on the chemistry of U(VI) in brines have not been experimentally established previously. (authors)

  3. Strontium isotope systematics of mixing groundwater and oil-field brine at Goose Lake in northeastern Montana, USA

    Science.gov (United States)

    Peterman, Zell E.; Thamke, Joanna N.; Futa, Kiyoto; Preston, Todd

    2012-01-01

    Groundwater, surface water, and soil in the Goose Lake oil field in northeastern Montana have been affected by Cl−-rich oil-field brines during long-term petroleum production. Ongoing multidisciplinary geochemical and geophysical studies have identified the degree and local extent of interaction between brine and groundwater. Fourteen samples representing groundwater, surface water, and brine were collected for Sr isotope analyses to evaluate the usefulness of 87Sr/86Sr in detecting small amounts of brine. Differences in Sr concentrations and 87Sr/86Sr are optimal at this site for the experiment. Strontium concentrations range from 0.13 to 36.9 mg/L, and corresponding 87Sr/86Sr values range from 0.71097 to 0.70828. The local brine has 168 mg/L Sr and a 87Sr/86Sr value of 0.70802. Mixing relationships are evident in the data set and illustrate the sensitivity of Sr in detecting small amounts of brine in groundwater. The location of data points on a Sr isotope-concentration plot is readily explained by an evaporation-mixing model. The model is supported by the variation in concentrations of most of the other solutes.

  4. Considerations and management of a patient with three metachronous cancers in association with Lynch syndrome and ileal Crohn’s disease: A case report

    Directory of Open Access Journals (Sweden)

    Kaleb Lourensz

    2015-01-01

    Conclusion: The surgical treatment of patients with Lynch syndrome requires a sound knowledge of the possible neoplastic conditions that can arise in the syndrome. Early detection is paramount, either by implementation of evidence based surveillance programs or at least by a heightened clinical awareness of the features of this disease. Ideally this will result in both reduced surgical morbidity and improved oncologic outcome. Furthermore, the medical treatment of Crohn’s disease in a patient with tumors arising from Lynch syndrome must be undertaken with at least a consideration of the possibility that the use of immunosuppressive medication might increase the risk of cancer recurrence.

  5. Validation of a Self-Concept Scale for Lynch Syndrome in Different Nationalities

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Domanska, Katarina; Bendahl, Pär-Ola

    2011-01-01

    syndrome. We compared the performance of this scale in 591 mutation carriers from Denmark, Sweden and Canada. Principal component analysis identified two sets of linked statements-the first related to feeling different, isolated and labeled, and the second to concern and worry about bowel changes....... The scale performed consistently in the three countries. Minor differences were identified, with guilt about passing on a defective gene and feelings of losing one's privacy being more pronounced among Canadians, whereas Danes more often expressed worries about cancer. Validation of the Lynch syndrome self...

  6. Screening adherence and cancer risk perceptions in colorectal cancer survivors with Lynch-like syndrome.

    Science.gov (United States)

    Katz, L H; Burton-Chase, A M; Advani, S; Fellman, B; Polivka, K M; Yuan, Y; Lynch, P M; Peterson, S K

    2016-03-01

    Cancer screening recommendations for patients with Lynch-like syndrome (LLS) are not well defined. We evaluated adherence to Lynch syndrome (LS) screening recommendations, cancer risk perceptions, and communication within the families among colorectal cancer (CRC) survivors with LLS. Thirty-four participants with LLS completed a questionnaire about risk perception, adherence to LS screening recommendations, and communication with relatives. Clinical data were obtained from medical records. Most participants (76%) believed they should undergo colonoscopy every 1-2 years. Only 41% correctly interpreted their genetic tests as uninformative negative or as variant of unknown significance for LS. Less than half had had an upper gastrointestinal endoscopy for screening purpose. Among female participants, 86% had been screened for endometrial cancer (EC) and 71% for ovarian cancer. Most participants had informed relatives about the CRC diagnosis and advised them to undergo CRC screening, but only 50% advised female relatives to be screened for EC and only one-third advised relatives to have genetic counseling. Most CRC survivors with LLS follow the same cancer screening recommended for LS patients but do not understand the meaning of LLS. Greater care must be devoted to communicating the implications of nondiagnostic germline mutation testing among patients with LLS. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. A deep sea community at the Kebrit brine pool in the Red Sea

    KAUST Repository

    Vestheim, Hege

    2015-02-26

    Approximately 25 deep sea brine pools occur along the mid axis of the Red Sea. These hypersaline, anoxic, and acidic environments have previously been reported to host diverse microbial communities. We visited the Kebrit brine pool in April 2013 and found macrofauna present just above the brine–seawater interface (~1465 m). In particular, inactive sulfur chimneys had associated epifauna of sea anemones, sabellid type polychaetes, and hydroids, and infauna consisting of capitellid polychaetes, gastropods of the genus Laeviphitus (fam. Elachisinidae), and top snails of the family Cocculinidae. The deep Red Sea generally is regarded as extremely poor in benthos. We hypothesize that the periphery along the Kebrit holds increased biomass and biodiversity that are sustained by prokaryotes associated with the brine pool or co-occurring seeps.

  8. Brine crude oil interactions at the oil-water interface

    DEFF Research Database (Denmark)

    Chakravarty, Krishna Hara; Fosbøl, Philip Loldrup; Thomsen, Kaj

    2015-01-01

    The impact of brine salinity and its ionic composition on oil displacement efficiency has been investigated extensively in recent years due to the potential of enhanced oil recovery (EOR). Wettability alterations through relative interactions at the mineral surface have been the basis of proposed...... in enhancing oil emulsion formation by increasing interactions between polar acids and brine solutions. The results propose the potential use of HPO42- ions in reservoirs having inactive mineral surfaces. The relative oil affinity of different ions including K+, Na+, Mg2+, and Ca2+ (cations), and Cl-, SO42...... and thus reduces the interfacial viscoelasticity of the trapped oil. These results show significant correlation between oil emulsion formation and increased oil recovery. Copyright 2015; Society of Petroleum Engineers...

  9. »Just cut them up like regular children.« : Eraserhead (USA 1977, David Lynch)

    OpenAIRE

    Höltgen, Stefan

    2010-01-01

    Zwischen 1970 und 1977 entsteht in fünfjähriger Dreharbeit mit Unterbrechungen und unter extrem schwierigen Produktionsbedingungen David Lynchs erster Spielfilm "Eraserhead". Vorbereitet wurde er in mehrfacher Hinsicht durch das Frühwerk des noch jungen Regisseurs. Seine kinetische Skulptur "Six Men getting sick", sowie seine Kurzfilme "The Alphabet" und "The Grandmother" verhalfen ihm nicht nur zu Stipendien (etwa der AFI für "The Grandmother"), sondern etablierten auch ein Motivinventar, au...

  10. Nuclear waste repository simulation experiments (brine migration), Asse Mine of the Federal of Germany: Quarterly brine migration data report, July-September 1984

    International Nuclear Information System (INIS)

    Coyle, A.J.; Kalia, H.N.; Eckert, J.L.

    1986-10-01

    The fifth brine migration data status report describes experiments simulating a nuclear waste repository at the 800-m (2624-ft) level of the Asse Salt Mine in the Federal Republic of Germany from May 1983 through September 1984. This report describes the test equipment, the Asse Salt Mine, and the pretest properties of the salt in the test gallery. This report also includes test data for the first 16 months of operations on brine migration rates, borehole pressure, salt temperatures, and thermomechanical behavior of the salt. Annual reports have been prepared for the years 1983 and 1984, describing the test activities on a yearly basis (Rothfuchs et al., 1984, 1986). The duration of the experiments will be approximately 2 years, ending in December 1985. 2 refs., 118 figs., 91 tabs

  11. Long-term brine migration through an engineered shaft seal system

    International Nuclear Information System (INIS)

    Fryar, D.G.; Beach, J.A.; Kelley, V.A.; Knowles, M.K.

    1997-01-01

    The shaft seal system for the Waste Isolation Pilot Plant (WIPP) must provide a barrier to the migration of fluids within the shafts to prevent the release of contaminants to the accessible environment. To investigate the performance of the shaft seal system, a set of fluid flow performance models was developed based upon the physical characteristics of the WIPP shaft seal system and the surrounding geologic media. This paper describes the results of a numerical model used to investigate the long-term potential for brine migration through the shaft seal system. Modeling results demonstrate that the WIPP shaft seal system will effectively limit brine migration within the repository shafts

  12. Numerical studies of CO2 and brine leakage into a shallow aquifer through an open wellbore

    Science.gov (United States)

    Wang, Jingrui; Hu, Litang; Pan, Lehua; Zhang, Keni

    2018-03-01

    Industrial-scale geological storage of CO2 in saline aquifers may cause CO2 and brine leakage from abandoned wells into shallow fresh aquifers. This leakage problem involves the flow dynamics in both the wellbore and the storage reservoir. T2Well/ECO2N, a coupled wellbore-reservoir flow simulator, was used to analyze CO2 and brine leakage under different conditions with a hypothetical simulation model in water-CO2-brine systems. Parametric studies on CO2 and brine leakage, including the salinity, excess pore pressure (EPP) and initially dissolved CO2 mass fraction, are conducted to understand the mechanism of CO2 migration. The results show that brine leakage rates increase proportionally with EPP and inversely with the salinity when EPP varies from 0.5 to 1.5 MPa; however, there is no CO2 leakage into the shallow freshwater aquifer if EPP is less than 0.5 MPa. The dissolved CO2 mass fraction shows an important influence on the CO2 plume, as part of the dissolved CO2 becomes a free phase. Scenario simulation shows that the gas lifting effect will significantly increase the brine leakage rate into the shallow freshwater aquifer under the scenario of 3.89% dissolved CO2 mass fraction. The equivalent porous media (EPM) approach used to model the wellbore flow has been evaluated and results show that the EPM approach could either under- or over-estimate brine leakage rates under most scenarios. The discrepancies become more significant if a free CO2 phase evolves. Therefore, a model that can correctly describe the complex flow dynamics in the wellbore is necessary for investigating the leakage problems.

  13. Effects of brine contamination from energy development on wetland macroinvertebrate community structure in the Prairie Pothole Region

    Science.gov (United States)

    Preston, Todd M.; Borgreen, Michael J.; Ray, Andrew M.

    2018-01-01

    Wetlands in the Prairie Pothole Region (PPR) of North America support macroinvertebrate communities that are integral to local food webs and important to breeding waterfowl. Macroinvertebrates in PPR wetlands are primarily generalists and well adapted to within and among year changes in water permanence and salinity. The Williston Basin, a major source of U.S. energy production, underlies the southwest portion of the PPR. Development of oil and gas results in the coproduction of large volumes of highly saline, sodium chloride dominated water (brine) and the introduction of brine can alter wetland salinity. To assess potential effects of brine contamination on macroinvertebrate communities, 155 PPR wetlands spanning a range of hydroperiods and salinities were sampled between 2014 and 2016. Brine contamination was documented in 34 wetlands with contaminated wetlands having significantly higher chloride concentrations, specific conductance and percent dominant taxa, and significantly lower taxonomic richness, Shannon diversity, and Pielou evenness scores compared to uncontaminated wetlands. Non-metric multidimensional scaling found significant correlations between several water quality parameters and macroinvertebrate communities. Chloride concentration and specific conductance, which can be elevated in naturally saline wetlands, but are also associated with brine contamination, had the strongest correlations. Five wetland groups were identified from cluster analysis with many of the highly contaminated wetlands located in a single cluster. Low or moderately contaminated wetlands were distributed among the remaining clusters and had macroinvertebrate communities similar to uncontaminated wetlands. While aggregate changes in macroinvertebrate community structure were observed with brine contamination, systematic changes were not evident, likely due to the strong and potentially confounding influence of hydroperiod and natural salinity. Therefore, despite the observed

  14. Effects of temperature, temperature gradients, stress, and irradiation on migration of brine inclusions in a salt repository

    International Nuclear Information System (INIS)

    Jenks, G.H.

    1979-07-01

    Available experimental and theoretical information on brine migration in bedded salt are reviewed and analyzed. The effects of temperature, thermal gradients, stress, irradiation, and pressure in a salt repository are among the factors considered. The theoretical and experimental (with KCl) results of Anthony and Cline were used to correlate and explain the available data for rates of brine migration at temperatures up to 250 0 C in naturally occurring crystals of bedded salt from Lyons and Hutchinson, Kansas. Considerations of the effects of stressing crystals of bedded salt on the migratin properties of brine inclusions within the crystals led to the conclusion that the most probable effects are a small fractional increase in the solubility of the salt within the liquid and a concomitant and equal fractional increase in the rate of the thermal gradient-induced migration of the brine. The greatest uncertainty relative to the prediction of rates of migration of brine into a waste emplacement cavity in bedded salt is associated with questions concerning the effects of the grain boundaries (within the aggregates of single crystals which comprise a bedded salt deposit) on brine migration through the deposit. The results of some of the estimates of rates and total amounts of brine inflow to HLW and SURF waste packages emplaced in bedded salt were included to illustrate the inflow volumes which might occur in a repository. The results of the brine inflow estimates for 10-year-old HLW emplaced at 150 kW/acre indicated inflow rates starting at 0.7 liter/year and totaling 12 liters at 30 years after emplacement. The results of the estimates for 10-year-old PWR SURF emplaced at 60 kW/acre indicated a constant inflow of 0.035 liter/year for the first 35 years after emplacement

  15. Radiation chemistry of salt-mine brines and hydrates

    International Nuclear Information System (INIS)

    Jenks, G.H.; Walton, J.R.; Bronstein, H.R.; Baes, C.F. Jr.

    1981-07-01

    Certain aspects of the radiation chemistry of NaCl-saturated MgCl 2 solutions and MgCl 2 hydrates at temperatures in the range of 30 to 180 0 C were investigated through experiments. A principal objective was to establish the values for the yields of H 2 [G(H 2 )] and accompanying oxidants in the gamma-ray radiolysis of concentrated brines that might occur in waste repositories in salt. We concluded that G(H 2 ) from gamma-irradiated brine solution into a simultaneously irradiated, deaerated atmosphere above the solution is between 0.48 and 0.49 over most of the range 30 to 143 0 C. The yield is probably somewhat lower at the lower end of this range, averaging 0.44 at 30 to 45 0 C. Changes in the relative amounts of MgCl 2 and NaCl in the NaCl-saturated solutions have negligible effects on the yield. The yield of O 2 into the same atmosphere averages 0.13, independent of the temperature and brine composition, showing that only about 50% of the radiolytic oxidant that was formed along with the H 2 was present as O 2 . We did not identify the species that compose the remainder of the oxidant. We concluded that the yield of H 2 from a gamma-irradiated brine solution into a simultaneously irradiated atmosphere containing 5 to 8% air in He may be greater than the yield in deaerated systems by amounts ranging from 0% for temperatures of 73 to 85 0 C, to about 30 and 40% for temperatures in the ranges 100 to 143 0 C and 30 to 45 0 C, respectively. We did not establish the mechanism whereby the air affected the yields of H 2 and O 2 . The values found in this work for G(H 2 ) in deaerated systems are in approximate agreement with the value of 0.44 for the gamma-irradiation yield of H 2 in pure H 2 O at room temperature. They are also in agreement with the values predicted by extrapolation from the findings of previous researchers for the value for G(H 2 ) in 2 M NaCl solutions at room temperature

  16. Sorption-reagent treatment of brines produced by reverse osmosis unit for liquid radioactive waste management

    International Nuclear Information System (INIS)

    Avramenko, V. A.; Zheleznov, V. V.; Sergienko, V. I.; Chizhevsky, I. Yu

    2003-01-01

    The results of the pilot plant tests (2002-2003) of the sorption-reagent decontamination of high salinity radioactive waste (brines) remaining after the low-salinity liquid radioactive waste (LRW) treatment in the reverse-osmosis unit from long-lived radionuclides are presented. The sorption-reagent materials used in this work were developed in the Institute of Chemistry FEDRAS. They enable one to decontaminate brines with total salt content up to 50 g/l from long-lived radionuclides of Cs, Sr and Co. At joint application of the reverse-osmosis and sorption-reagent technologies total volume of solid radioactive waste (SRW) decreases up to 100-fold as compared to the technology of cementation of reverse osmosis brines. In this case total cost of LRW treatment and SRW disposal decreases more than 10-fold. Brines decontaminated from radionuclides are then diluted down to the ecologically safe total salts content in water to be disposed of. Tests were performed to compare the efficiency of technologies including evaporation of brines remaining after reverse osmosis process and their decontamination by means of the sorption-reagent method. It was shown that, as compared to evaporation, the sorption-reagent technology provides substantial advantages as in regard to radioactive waste total volume reduction as in view of total cost of the waste management

  17. Chemical composition of selected Kansas brines as an aid to interpreting change in water chemistry with depth

    Science.gov (United States)

    Dingman, R.J.; Angino, E.E.

    1969-01-01

    Chemical analyses of approximately 1,881 samples of water from selected Kansas brines define the variations of water chemistry with depth and aquifer age. The most concentrated brines are found in the Permian rocks which occupy the intermediate section of the geologic column of this area. Salinity decreases below the Permian until the Ordovician (Arbuckle) horizon is reached and then increases until the Precambrian basement rocks are reached. Chemically, the petroleum brines studied in this small area fit the generally accepted pattern of an increase in calcium, sodium and chloride content with increasing salinity. They do not fit the often-predicted trend of increases in the calcium to chloride ratio, calcium content and salinity with depth and geologic age. The calcium to chloride ratio tends to be asymptotic to about 0.2 with increasing chloride content. Sulfate tends to decrease with increasing calcium content. Bicarbonate content is relatively constant with depth. If many of the hypotheses concerning the chemistry of petroleum brines are valid, then the brines studied are anomolous. An alternative lies in accepting the thesis that exceptions to these hypotheses are rapidly becoming the rule and that indeed we still do not have a valid and general hypothesis to explain the origin and chemistry of petroleum brines. ?? 1969.

  18. Design of the Brine Evaporation Bag for Increased Water Recovery in Microgravity

    Science.gov (United States)

    Hayden, Anna L.; Delzeit, Lance D.

    2015-01-01

    The existing water recovery system on the International Space Station (ISS) is limited to 75% reclamation; consequently, long duration space missions are currently unfeasible due to the large quantity of water necessary to sustain the crew. The Brine Evaporation Bag (BEB) is a proposed system to supplement the existing water recovery system aboard the ISS that can to increase water recovery to 99%. The largest barrier to high water recovery is mineral scaling inside the water recovery equipment, which leads to equipment failure; therefore, some water must remain to keep the minerals dissolved. This waste stream is liquid brine containing salts, acids, organics, and water. The BEB is designed to recover this remaining water while protecting the equipment from scale. The BEB consists of a sealed bag containing a hydrophobic membrane that allows water vapor and gas to pass through. It is operated under vacuum, heated, and continuously filled with brine to boil away the water. The water vapor is recovered and the solids are contained inside the bag for disposal. The BEB can dry the brine to a solid block. Ongoing work includes improving the design of the BEB and the evaporator to prevent leaks, maximize the rate of water removal, and minimize energy use and weight. Additional testing will determine whether designs are heat- or mass-transfer limited and the optimal water recovery rate.

  19. Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.

    Science.gov (United States)

    Pinto, Diana; Pinto, Carla; Guerra, Joana; Pinheiro, Manuela; Santos, Rui; Vedeld, Hege Marie; Yohannes, Zeremariam; Peixoto, Ana; Santos, Catarina; Pinto, Pedro; Lopes, Paula; Lothe, Ragnhild; Lind, Guro Elisabeth; Henrique, Rui; Teixeira, Manuel R

    2018-02-01

    Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer (CRC) patients with abnormal expression of the MLH1 protein in their tumors. In a series of 38 patients who met clinical criteria for Lynch syndrome genetic testing, with loss of MLH1 expression in the tumor and with no germline mutations in the MLH1 gene (35/38) or with tumors presenting the BRAF p.Val600Glu mutation (3/38), we screened for constitutional methylation of the MLH1 gene promoter using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) in various biological samples. We found four (4/38; 10.5%) patients with constitutional methylation in the MLH1 gene promoter. RNA studies demonstrated decreased MLH1 expression in the cases with constitutional methylation when compared with controls. We could infer the mosaic nature of MLH1 constitutional hypermethylation in tissues originated from different embryonic germ layers, and in one family we could show that it occurred de novo. We conclude that constitutional MLH1 methylation occurs in a significant proportion of patients who have loss of MLH1 protein expression in their tumors and no MLH1 pathogenic germline mutation. Furthermore, we provide evidence that MLH1 constitutional hypermethylation is the molecular mechanism behind about 3% of Lynch syndrome families diagnosed in our institution, especially in patients with early onset or multiple primary tumors without significant family history. © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  20. A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome.

    Science.gov (United States)

    Adar, Tomer; Rodgers, Linda H; Shannon, Kristen M; Yoshida, Makoto; Ma, Tianle; Mattia, Anthony; Lauwers, Gregory Y; Iafrate, Anthony J; Chung, Daniel C

    2017-03-01

    To determine the correlation between BRAF genotype and MLH1 promoter methylation in a screening program for Lynch syndrome (LS), a universal screening program for LS was established in two medical centers. Tumors with abnormal MLH1 staining were evaluated for both BRAF V600E genotype and MLH1 promoter methylation. Tumors positive for both were considered sporadic, and genetic testing was recommended for all others. A total 1011 colorectal cancer cases were screened for Lynch syndrome, and 148 (14.6%) exhibited absent MLH1 immunostaining. Both BRAF and MLH1 methylation testing were completed in 126 cases. Concordant results (both positive or both negative) were obtained in 86 (68.3%) and 16 (12.7%) cases, respectively, with 81% concordance overall. The positive and negative predictive values for a BRAF mutation in predicting MLH1 promoter methylation were 98.9% and 41%, respectively, and the negative predictive value fell to 15% in patients ≥70 years old. Using BRAF genotyping as a sole test to evaluate cases with absent MLH1 staining would have increased referral rates for genetic testing by 2.3-fold compared with MLH1 methylation testing alone (31% vs 13.5%, respectively, PMLH1 methylation testing for BRAF wild-type cases only would significantly decrease the number of methylation assays performed and reduce the referral rate for genetic testing to 12.7%. A BRAF mutation has an excellent positive predictive value but poor negative predictive value in predicting MLH1 promoter methylation. A hybrid use of these tests may reduce the number of low-risk patients referred to genetic counseling and facilitate wider implementation of Lynch syndrome screening programs.

  1. Delineation of brine contamination in and near the East Poplar oil field, Fort Peck Indian Reservation, northeastern Montana, 2004-09

    Science.gov (United States)

    Thamke, Joanna N.; Smith, Bruce D.

    2014-01-01

    The extent of brine contamination in the shallow aquifers in and near the East Poplar oil field is as much as 17.9 square miles and appears to be present throughout the entire saturated zone in contaminated areas. The brine contamination affects 15–37 billion gallons of groundwater. Brine contamination in the shallow aquifers east of the Poplar River generally moves to the southwest toward the river and then southward in the Poplar River valley. The likely source of brine contamination in the shallow aquifers is brine that is produced with crude oil in the East Poplar oil field study area. Brine contamination has not only affected the water quality from privately owned wells in and near the East Poplar oil field, but also the city of Poplar’s public water-supply wells. Three water-quality types characterize water in the shallow aquifers; a fourth water-quality type in the study area characterizes the brine. Type 1 is uncontaminated water that is suitable for most domestic purposes and typically contains sodium bicarbonate and sodium/magnesium sulfate as the dominant ions. Type 2 is moderately contaminated water that is suitable for some domestic purposes, but not used for drinking water, and typically contains sodium and chloride as the dominant ions. Type 3 is considerably contaminated water that is unsuitable for any domestic purpose and always contains sodium and chloride as the dominant ions. Type 3 quality of water in the shallow aquifers is similar to Type 4, which is the brine that is produced with crude oil. Electromagnetic apparent conductivity data were collected in the 106 square-mile area and used to determine extent of brine contamination. These data were collected and interpreted in conjunction with water-quality data collected through 2009 to delineate brine plumes in the shallow aquifers. Monitoring wells subsequently were drilled in some areas without existing water wells to confirm most of the delineated brine plumes; however, several possible

  2. Liquid interfacial water and brines in the upper surface of Mars

    Science.gov (United States)

    Moehlmann, Diedrich

    2013-04-01

    Liquid interfacial water and brines in the upper surface of Mars Diedrich T.F. Möhlmann DLR Institut für Planetenforschung, Rutherfordstr. 2, D - 12489 Berlin, Germany dirk.moehlmann@dlr.de Interfacial water films and numerous brines are known to remain liquid at temperatures far below 0° C. The physical processes behind are described in some detail. Deliquescence, i.e. the liquefaction of hygroscopic salts at the threshold of a specific "Deliquescence Relative Humidity", is shown to be that process, which on present Mars supports the formation of stable interfacial water and bulk liquids in form of temporary brines on and in a salty upper surface of present Mars in a diurnally temporary and repetitive process. Temperature and relative humidity are the governing conditions for deliquescence (and the counterpart "efflorescence") to evolve. The current thermo-dynamical conditions on Mars support these processes to evolve on present Mars. The deliquescence-driven presence of liquid brines in the soil of the upper surface of Mars can expected to be followed by physical and chemical processes like "surface cementation", down-slope flows, and physical and chemical weathering processes. A remarkable and possibly also biologically relevant evolution towards internally interfacial water bearing structures of dendritic capillaries is related to their freezing - thawing driven formation. The internal walls of these network-pores or -tubes can be covered by films of interfacial water, providing that way possibly habitable crack-systems in soil and rock. These evolutionary processes of networks, driven by their tip-growth, can expected to be ongoing also at present.

  3. Effects of NaCl on Fermentative Metabolism of Mature Green Tomatoes cv. Ailsa Craig in Brine

    Directory of Open Access Journals (Sweden)

    Sotirios Fragkostefanakis

    2010-01-01

    Full Text Available The effect of osmotic strength on gene expression and activity of the major enzymes of fermentative metabolism of mature green tomato fruit (Solanum lycopersicum cv. Ailsa Craig has been studied by exposing fruit to brine containing 0 (water, 5 and 10 % NaCl. The fruits were surface sterilized prior to treatment to prevent the growth of microbes naturally present on the skin of the fruit. Changes in fruit expression of fermentation genes and the activity of the respective enzymes as well as physicochemical quality characteristics (soluble solid content, titratable acidity, pH and firmness were studied in both fruit and brine for 0.5, 1, 1.5, 2, 3, 7 and 14 days. Discrepancies in responses that resulted from the different salt concentrations were obtained at molecular and quality levels. The complex kinetics of solutes between the fruit and the surrounding solution due to osmotic potential has led to different responses of the tissue to fermentation. Tomato fruit showed cracking soon after storage in water; water-stored fruit had higher titratable acidity, lower soluble solid content, and higher induction of anaerobic metabolism as indicated by the expression or the activity of the fermentation enzymes compared to fruit stored in brine with 5 or 10 % NaCl. No cracking was observed in fruit stored in 5 (isotonic or 10 % NaCl (hypertonic brine, though in the latter, signs of dehydration were observed. The presence of salt in brine reduced the intensity of fermentative metabolism as indicated by the lower gene expression and enzyme activity. However, fruit stored in brine with 5 % NaCl survived longer than with 0 or 10 % NaCl. The presence of 5 % NaCl in brine caused mild changes of both the fermentative metabolism and the physicochemical characteristics and prevented fruit deterioration during storage.

  4. The Synthesis of Calcium Salt from Brine Water by Partial Evaporation and Chemical Precipitation

    Science.gov (United States)

    Lalasari, L. H.; Widowati, M. K.; Natasha, N. C.; Sulistiyono, E.; Prasetyo, A. B.

    2017-02-01

    In this study would be investigated the effects of partial evaporation and chemical precipitation in the formation of calcium salt from brine water resources. The chemical reagents used in the study was oxalate acid (C2H2O4), ammonium carbonate (NH4)2CO3) and ammonium hydroxide (NH4OH) with reagent concentration of 2 N, respectively. The procedure was 10 liters brine water evaporated until 20% volume and continued with filtration process to separate brine water filtrate from residue (salt). Salt resulted from evaporation process was characterized by Scanning Electron Microscopy (SEM), X-Ray Fluorescence (XRF) and X-Ray Diffraction (XRD) techniques. Filtrate then was reacted with C2H2O4, (NH4)2CO3 and NH4OH reagents to get salt products in atmospheric condition and variation ratio volume brine water/chemicals (v/v) [10/1; 10/5; 10/10; 10/20; 10/30; 10:50; 20/1; 20/5; 20/10; 20/20; 20/30; 20:50]. The salt product than were filtered, dried, measured weights and finally characterized by SEM/EDS and XRD techniques. The result of experiment showed the chemical composition of brine water from Tirta Sanita, Bogor was 28.87% Na, 9.17% Mg, 2.94% Ca, 22.33% O, 0.71% Sr, 30.02% Cl, 1.51% Si, 1.23% K, 0.55% S, 1.31% Al. The chemical composition of salt resulted by partial evaporation was 53.02% Ca, 28.93%O, 9.50% Na, 2.10% Mg, 1.53% Sr, 1.20% Cl, 1.10% Si, 0.63% K, 0.40% S, 0.39% Al. The salt resulted by total evaporation was indicated namely as NaCl. Whereas salt resulted by partial evaporation was CaCO3 with a purity of 90 % from High Score Plus analysis. In the experiment by chemical precipitation was reported that the reagents of ammonium carbonate were more reactive for synthesizing calcium salt from brine water compared to reagents of oxalate acid and ammonium hydroxide. The salts precipitated by NH4OH, (NH4)2CO3, and H2C2O4 reagents were indicated as NaCl, CaCO3 and CaC2O4.H2O, respectively. The techniques of partial evaporation until 20% volume sample of brine water and

  5. Changes of washing water during debittering and the brine during storage of irradiated olive fruits (Olea europea. L.)

    International Nuclear Information System (INIS)

    AL-Bachir, M.

    2001-01-01

    Olive fruits (Olea europea. var. Surrany) treated with 0, 1, 2 and 3 kGy of gamma irradiation were debittered in distilled water for 8 days and stored in brine for 12 months at room temperature. Total dissolved and inorganic dissolved solids, Na, K, Ca, electric conductivity (EC) and pH values were evaluated in washing wastewater (daily), and in brine (after 6 and 12 months). The results showed that gamma irradiation increased the total and inorganic dissolved solids, Na and K in washing wastewater, and in brine throughout debittering and storage periods. Also, gamma irradiation had an effect on EC and pH values of washing wastewater and brine [es

  6. ASSESSMENT OF TECHNETIUM LEACHABILITY IN CEMENT STABILIZED BASIN 43 GROUNDWATER BRINE

    International Nuclear Information System (INIS)

    COOKE GA; DUNCAN JB; LOCKREM LL

    2008-01-01

    This report is an initial report on the laboratory effort executed under RPP-PLAN-33338, Test Plan for the Assessment of Technetium Leachability in Cement-Stabilized Basin 43 Groundwater Brine. This report delineates preliminary data obtained under subcontract 21065, release 30, from the RJ Lee Group, Inc., Center for Laboratory Sciences. The report is predicated on CLS RPT-816, Draft Report: Assessment of Technetium Leachability in Cement Stabilized Basin 43 Groundwater Brine. This document will be revised on receipt of the final RJ Lee Group, Inc., Center for Laboratory Sciences report, which will contain data subjected to quality control and quality assurance criteria

  7. Functional characterization of MLH1 missense variants identified in Lynch Syndrome patients

    DEFF Research Database (Denmark)

    Andersen, Sofie Dabros; Liberti, Sascha Emilie; Lützen, Anne

    2012-01-01

    Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Lynch Syndrome (LS), also known as Hereditary Nonpolyposis Colorectal Cancer or HNPCC. A proportion of MSH2 and MLH1 mutations found in suspected LS patients give rise...... localization and protein-protein interaction with the dimer partner PMS2 and the MMR-associated exonuclease 1. We show that a significant proportion of examined variant proteins have functional defects in either subcellular localization or protein-protein interactions, which is suspected to lead to the cancer...

  8. Comparison of antimicrobial activities of brine salting, Chlorinated ...

    African Journals Online (AJOL)

    Chemical preservatives can be used to reduce the overall microbial populations in fish and fish products. This study was set to determine the antimicrobial activities of brine salting, chlorinated solution, and Moringa oleifera plant extracts treatments on enteric bacteria in Rastrineobola argentea and Oreochromis niloticus fish ...

  9. Storage quality in different brines of pickled capers (Capparis spp.

    Directory of Open Access Journals (Sweden)

    Özcan, Musa

    1999-08-01

    Full Text Available Middle sized buds of Capparis spinosa L. var. spinosa and Capparis ovata Desf. var. canescens (Coss. Heywood collected from wild plants were pickled for two months. The buds after the fermentation were processed in 10% and 20% brines. Storage stability of the fermented capers was determined by physical, chemical and microbiological analysis at certain interval in 10 and 20% old or fresh brines 180 days. Storaged in 10% and 20% old or fresh brines for 180 days of pickled buds of both species maintained the product quality in all samples. Acidity was higher in old brine during storage. Lactic acid bacteria (LAB growth was observed only in 10% fresh brine, it decreased from initial and 30 days at C. ovata and C. spinosa, respectively. C. spinosa, compared with C. ovata was desirable due to low sediment and more firm texture. During storage of buds in fresh brines, sediment and off-flavour were not observed for both species. Pickled products can be stored in fresh brine long-term containing at least 10% salt concentration.

    Se encurtieron durante dos meses botones florales de tamaño intermedio de Capparis spinosa L. var. spinosa y Capparis ovata Desf. var. canescens (Coss recogidos de plantas silvestres. Las alcaparras después de la fermentación se conservaron en salmueras del 10% y 20%. Las alcaparras fermentadas fueron mantenidas durante 180 días en salmueras usadas o recién preparadas (frescas del 10 y 20%, determinándose a intervalos la estabilidad durante la conservación por análisis físicos, químicos y microbiológicos. La calidad del producto se mantuvo en todas las muestras de alcaparras fermentadas durante los 180 días, tanto en 10% como en 20% y en salmueras usadas o frescas. La acidez durante la conservación fue mayor en salmueras usadas. El crecimiento de bacterias del ácido láctico se observó sólo en salmueras frescas del 10

  10. CO2/Brine transport into shallow aquifers along fault zones.

    Science.gov (United States)

    Keating, Elizabeth H; Newell, Dennis L; Viswanathan, Hari; Carey, J W; Zyvoloski, G; Pawar, Rajesh

    2013-01-02

    Unintended release of CO(2) from carbon sequestration reservoirs poses a well-recognized risk to groundwater quality. Research has largely focused on in situ CO(2)-induced pH depression and subsequent trace metal mobilization. In this paper we focus on a second mechanism: upward intrusion of displaced brine or brackish-water into a shallow aquifer as a result of CO(2) injection. Studies of two natural analog sites provide insights into physical and chemical mechanisms controlling both brackish water and CO(2) intrusion into shallow aquifers along fault zones. At the Chimayó, New Mexico site, shallow groundwater near the fault is enriched in CO(2) and, in some places, salinity is significantly elevated. In contrast, at the Springerville, Arizona site CO(2) is leaking upward through brine aquifers but does not appear to be increasing salinity in the shallow aquifer. Using multiphase transport simulations we show conditions under which significant CO(2) can be transported through deep brine aquifers into shallow layers. Only a subset of these conditions favor entrainment of salinity into the shallow aquifer: high aspect-ratio leakage pathways and viscous coupling between the fluid phases. Recognition of the conditions under which salinity is favored to be cotransported with CO(2) into shallow aquifers will be important in environmental risk assessments.

  11. Locating inputs of freshwater to Lynch Cove, Hood Canal, Washington, using aerial infrared photography

    Science.gov (United States)

    Sheibley, Rich W.; Josberger, Edward G.; Chickadel, Chris

    2010-01-01

    The input of freshwater and associated nutrients into Lynch Cove and lower Hood Canal (fig. 1) from sources such as groundwater seeps, small streams, and ephemeral creeks may play a major role in the nutrient loading and hydrodynamics of this low dissolved-oxygen (hypoxic) system. These disbursed sources exhibit a high degree of spatial variability. However, few in-situ measurements of groundwater seepage rates and nutrient concentrations are available and thus may not represent adequately the large spatial variability of groundwater discharge in the area. As a result, our understanding of these processes and their effect on hypoxic conditions in Hood Canal is limited. To determine the spatial variability and relative intensity of these sources, the U.S. Geological Survey Washington Water Science Center collaborated with the University of Washington Applied Physics Laboratory to obtain thermal infrared (TIR) images of the nearshore and intertidal regions of Lynch Cove at or near low tide. In the summer, cool freshwater discharges from seeps and streams, flows across the exposed, sun-warmed beach, and out on the warm surface of the marine water. These temperature differences are readily apparent in aerial thermal infrared imagery that we acquired during the summers of 2008 and 2009. When combined with co-incident video camera images, these temperature differences allow identification of the location, the type, and the relative intensity of the sources.

  12. Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers

    NARCIS (Netherlands)

    A. Goverde (Anne); M.C.W. Spaander (Manon); D. Nieboer (Daan); A.M.W. van den Ouweland (Ans); W.N.M. Dinjens (Winand); H.J. Dubbink (Erik Jan); C. Tops (Cmj); S.W. Ten Broeke (Sanne W.); M.J. Bruno (Marco); R.M.W. Hofstra (Robert); E.W. Steyerberg (Ewout); A. Wagner (Anja)

    2017-01-01

    textabstractUntil recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2 mutation carriers specifically. In a retrospective, clinic-based cohort we calculated predictions for

  13. Some aspects of molecular diagnostics in Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Kurzawski Grzegorz

    2006-12-01

    Full Text Available Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1 has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2 and applied to study the types of mutations and their prevalence in Poland (Part 3 and the Baltic States (Part 4. A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5.

  14. Subsurface transport of inorganic and organic solutes from experimental road spreading of oil-field brine

    International Nuclear Information System (INIS)

    Bair, E.S.; Digel, R.K.

    1990-01-01

    A study designed to evaluate ground water quality changes resulting from spreading oil-field brine on roads for ice and dust control was conducted using a gravel roadbed that received weekly applications of brine eight times during the winter phase and 11 times during the summer phase of the study. A network of 11 monitoring wells and five pressure-vacuum lysimeters was installed to obtain ground water and soil water samples. Thirteen sets of water-quality samples were collected and analyzed for major ions, trace metals, and volatile organic compounds. Two sets of samples were taken prior to brine spreading, four sets during winter-phase spreading, five sets during summer-phase spreading, and two sets during the interim between the winter and summer phases. A brine plume delineated by elevated specific-conductance values and elevated chloride concentrations in ground water samples to exceed US EPA public drinking-water standards by two-fold during the winter phase and five-fold during the summer phase. No other major ions, trace metals, or volatile organic compounds exceeded the standards during the winter or summer phases. More than 99% dilution of the solutes in the brine occurred between the roadbed surface and the local ground water flow system. Further attenuation of calcium, sodium, potassium, and strontium resulted from adsorption, whereas further attenuation of benzene resulted from volatilization and adsorption

  15. Pressure-induced brine migration in consolidated salt in a repository

    International Nuclear Information System (INIS)

    Hwang, Y.; Chambre, P.L.; Lee, W.W.L.; Pigford, T.H.

    1987-06-01

    This report describes a mathematical model for brine migration through intact salt near a radioactive waste package emplaced in salt. Solutions indicate limited movement following ten years emplacement

  16. Effect of low B-Lynch suture on menstrual cycle recovery and sex hormone levels in patients after cesarean section for placenta previa

    Directory of Open Access Journals (Sweden)

    Su-Lan Zhang

    2016-03-01

    Full Text Available Objective: To explore the effect of low B-Lynch suture on the menstrual cycle recovery and sex hormone levels in patients after cesarean section for placenta previa. Methods: A total of 40 patients who were admitted in our hospital from August, 2013 to August, 2015 for cesarean section due to placenta previa were included in the study and randomized into the observation group and the control group. The patients in the observation group were given low B-lynch suture, while in the control group, yarns were plugged in the uterus. The bleeding during operation and 24 h after operation, the postpartum lochia duration, and menstrual cycle recovery in the two groups were observed. The postpartum FSH, E2, and LH levels in the two groups were determined. Results: The amount of bleeding during operation and 24 h after operation in the observation group was significantly less than that in the control group (P0.05. The comparison of FSH, E2, and LH levels between the two groups was not statistically significant (P>0.05. Conclusions: Low B-Lynch suture can effectively reduce the amount of bleeding after cesarean section for placenta previa, and has no effect on the menstrual recovery and ovarian function with a simple operation and less postoperative complications; therefore, it deserves to be widely recommended in the clinic.

  17. Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

    Directory of Open Access Journals (Sweden)

    Eva A L Wielders

    Full Text Available Lynch syndrome confers an increased risk to various types of cancer, in particular early onset colorectal and endometrial cancer. Mutations in mismatch repair (MMR genes underlie Lynch syndrome, with the majority of mutations found in MLH1 and MSH2. Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard characteristics of MMR deficiency, such as microsatellite instability. In particular, the consequences of MSH6 missense mutations are challenging to predict, which further complicates genetic counseling. We have previously developed a method for functional characterization of MSH2 missense mutations of unknown significance. This method is based on endogenous gene modification in mouse embryonic stem cells using oligonucleotide-directed gene targeting, followed by a series of functional assays addressing the MMR functions. Here we have adapted this method for the characterization of MSH6 missense mutations. We recreated three MSH6 variants found in suspected Lynch syndrome families, MSH6-P1087R, MSH6-R1095H and MSH6-L1354Q, and found all three to behave like wild type MSH6. Thus, despite suspicion for pathogenicity from clinical observations, our approach indicates these variants are not disease causing. This has important implications for counseling of mutation carriers.

  18. Kinetic Effect on the Freezing of Ammonium-Sodium-Carbonate-Chloride Brines and Implications for Origin of Ceres' Bright Spots

    Science.gov (United States)

    Hodyss, R. P.; Thomas, E. C.; Vu, T. H.; Johnson, P. V.; Choukroun, M.

    2017-12-01

    Subsurface brines on Ceres containing natrite (Na2CO3) and smaller amounts of NH4Cl or NH4HCO3 have been proposed to reach the dwarf planet's surface from an internal reservoir, where the brines freeze and result in bright spots across Ceres. Kinetically frozen solutions containing the likely constituents of Ceres' subsurface brines (ammonium, sodium, carbonate, and chloride ions) were studied via infrared and micro-Raman spectroscopy, where the flash-frozen mixtures were found to preferentially form ammonium chloride and ammonium bicarbonate, even in sodium-dominated solutions. Additionally, sodium chloride only formed when sodium or chloride (or both) were present in excess in the brine solutions. Raman spectroscopy was further employed to analyze the effect of vacuum exposure on these frozen brines over longer periods of time to simulate the surface conditions of Ceres.

  19. Changes of washing water during debittering and the brine during storage of irradiated olive fruits (Olea Europea. 1.)

    International Nuclear Information System (INIS)

    Al-Bachir, M.

    2003-01-01

    Olive fruits (Olea Europea. var. Surrany) treated with 0, 1, 2, and 3 kGy of gamma irradiation were debittered in distilled water for 8 days and stored in brine for 12 months at room temperature. Total dissolved and inorganic dissolved solids, Na, K, Ca, electric conductivity (EC) and pH values were evaluated in washing wastewater 9 daily), and in brine (after 6 and 12 months). The results showed that gamma irradiation increased the total and inorganic dissolved solids, Na and K in washing wastewater, and in brine throughout debittering and storage periods. Also, gamma irradiation had an effect on EC and pH values of washing wastewater and brine. (author)

  20. Brine Extraction and Treatment Strategies to Enhance Pressure Management and Control of CO2 Plumes in Deep Geologic Formations

    Energy Technology Data Exchange (ETDEWEB)

    Okwen, Roland [Univ. of Illinois, Champaign, IL (United States). Prairie Research Inst.; Frailey, Scott [Univ. of Illinois, Champaign, IL (United States). Prairie Research Inst.; Dastgheib, Seyed [Univ. of Illinois, Champaign, IL (United States). Prairie Research Inst.

    2017-06-14

    The overall goal of the this project is to develop and validate pressure management and carbon dioxide (CO2) plume control strategies that can address technical and economic barriers to commercial deployment of CO2 storage technologies, based on computational and field demonstration work at the Archer Daniels Midland Company (ADM) facility where the Illinois Basin–Decatur Project (IBDP) and the Illinois-Industrial Carbon Capture and Storage (IL-ICCS) projects are located. To accomplish the overall goal, the ISGS designed a brine extraction storage test (BEST) that could be completed in two phases. The goal of BEST Phase I was to evaluate the feasibilities of extraction well(s) placement, the brine extraction to CO2 injection rate ratio, extraction well completion, and brine treatment and handling. The goal of BEST Phase II would be to validate the brine extraction and treatment options deemed feasible in Phase I by (1) demonstrating the efficacy of brine extraction (BE) in managing pressure (i.e., formation) and the CO2 plume, and (2) demonstrating treatment of extracted brine with high total dissolved solids (TDS; >200,000 mg/L) using multiple advanced treatment technologies. This report details work done in Phase I. Several brine extraction and treatment scenarios were tested, simulated, and analyzed for their effectiveness in extracting brine. Initially a vertical well was studied; however, geologic modeling, reservoir modeling, and the existing facility and wellbore infrastructure dictated that the location of a vertical brine extraction well was limited to an area with no existing monitoring wells and where the well would be in relative proximity to an existing CO2 plume. Consequently, a vertical well was excluded, and a horizontal brine extraction well placed above the existing CO2 plume near two existing wells was studied. The horizontal well option allows the project to leverage the

  1. The effect of stratigraphic dip on brine inflow and gas migration at the Waste Isolation Pilot Plant

    International Nuclear Information System (INIS)

    Webb, S.W.; Larson, K.W.

    1996-02-01

    The natural dip of the Salado Formation at the Waste Isolation Pilot Plant (WIPP), although regionally only about 111, has the potential to affect brine inflow and gas-migration distances due to buoyancy forces. Current models, including those in WIPP Performance Assessment calculations, assume a perfectly horizontal repository and stratigraphy. With the addition of buoyancy forces due to the dip, brine and gas flow patterns can be affected. Brine inflow may increase due to countercurrent flow, and gas may preferentially migrate up dip. This scoping study has used analytical and numerical modeling to evaluate the impact of the dip on brine inflow and gas-migration distances at the WIPP in one, two, and three dimensions. Sensitivities to interbed permeabilities, two-phase curves, gas-generation rates, and interbed fracturing were studied

  2. The effect of stratigraphic dip on brine inflow and gas migration at the Waste Isolation Pilot Plant

    Energy Technology Data Exchange (ETDEWEB)

    Webb, S.W. [Sandia National Labs., Albuquerque, NM (United States); Larson, K.W. [INTERA, Inc., Albuquerque, NM (United States)

    1996-02-01

    The natural dip of the Salado Formation at the Waste Isolation Pilot Plant (WIPP), although regionally only about 111, has the potential to affect brine inflow and gas-migration distances due to buoyancy forces. Current models, including those in WIPP Performance Assessment calculations, assume a perfectly horizontal repository and stratigraphy. With the addition of buoyancy forces due to the dip, brine and gas flow patterns can be affected. Brine inflow may increase due to countercurrent flow, and gas may preferentially migrate up dip. This scoping study has used analytical and numerical modeling to evaluate the impact of the dip on brine inflow and gas-migration distances at the WIPP in one, two, and three dimensions. Sensitivities to interbed permeabilities, two-phase curves, gas-generation rates, and interbed fracturing were studied.

  3. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

    Directory of Open Access Journals (Sweden)

    Talseth-Palmer Bente A

    2010-05-01

    Full Text Available Abstract Background Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mutation type, cancer risk and age of diagnosis in MSH6 and PMS2 families. Methods A total of 78 participants (from 29 families with a mutation in MSH6 and 7 participants (from 6 families with a mutation in PMS2 were included in the current study. A database of de-identified patient information was analysed to extract all relevant information such as mutation type, cancer incidence, age of diagnosis and cancer type in this Lynch syndrome cohort. Cumulative lifetime risk was calculated utilising Kaplan-Meier survival analysis. Results MSH6 and PMS2 mutations represent 10.3% and 1.9%, respectively, of the pathogenic mutations in our Australian Lynch syndrome families. We identified 26 different MSH6 and 4 different PMS2 mutations in the 35 families studied. We report 15 novel MSH6 and 1 novel PMS2 mutations. The estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females and 65% for endometrial cancer in MSH6 mutation carriers. The risk of developing CRC is different between males and females at age 50 years, which is 34% for males and 21% for females. Conclusion Novel MSH6 and PMS2 mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations. Our data provides additional information to add to the genotype-phenotype spectrum for both MSH6 and PMS2 mutations.

  4. An improved brine shrimp larvae lethality microwell test method.

    Science.gov (United States)

    Zhang, Yi; Mu, Jun; Han, Jinyuan; Gu, Xiaojie

    2012-01-01

    This article described an improved brine shrimp larvae lethality microwell test method. A simply designed connecting vessel with alternative photoperiod was used to culture and collect high yield of active Artemia parthenogenetica nauplii for brine shrimp larvae lethality microwell test. Using this method, pure A. parthenogenetica nauplii suspension was easily cultured and harvested with high density about 100-150 larvae per milliliter and the natural mortality was reduced to near zero by elimination of unnecessary artificial disturbance. And its sensitivity was validated by determination of LC(50)-24 h of different reference toxicants including five antitumor agents, two pesticides, three organic pollutants, and four heavy metals salts, most of which exhibited LC(50)-24 h between 0.07 and 58.43 mg/L except for bleomycin and mitomycin C with LC(50)-24 h over 300 mg/L.

  5. Fate of Brine Applied to Unpaved Roads at a Radioactive Waste Subsurface Disposal Area

    International Nuclear Information System (INIS)

    Larry C. Hull; Carolyn W. Bishop

    2004-01-01

    Between 1984 and 1993, MgCl 2 brine was used to suppress dust on unpaved roads at a radioactive waste subsurface disposal area. Because Cl - might enhance corrosion of buried metals in the waste, we investigated the distribution and fate of Cl - in the vadose zone using pore water samples collected from suction lysimeters and soluble salt concentrations extracted from sediment samples. The Cl/Br mass ratio and the total dissolved Cl - concentration of pore water show that brine contamination occurs primarily within 13 m of treated roads, but can extend as much as 30 m laterally in near-surface sedimentary deposits. Within the deep vadose zone, which consists of interlayered basalt lava flows and sedimentary interbeds, brine has moved up to 110 m laterally. This lateral migration suggests formation of perched water and horizontal transport during periods of high recharge. In a few locations, brine migrated to depths of 67 m within 3 to 5 yr. Elevated Cl - concentrations were found to depths of 2 m in roadbed material. In drainage ditches along roads, where runoff accumulates and recharge of surface water is high, Cl - was flushed from the sediments in 3 to 4 yr. In areas of lower recharge, Cl - remained in the sediments after 5 yr. Vertical brine movement is directly related to surface recharge through sediments. The distribution of Cl - in pore water and sediments is consistent with estimates of vadose zone residence times and spatial distribution of surface water recharge from other investigations at the subsurface disposal area

  6. Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

    Science.gov (United States)

    Berginc, Gasper; Bracko, Matej; Ravnik-Glavac, Metka; Glavac, Damjan

    2009-01-01

    Microsatellite instability (MSI) is present in more than 90% of colorectal cancers of patients with Lynch syndrome, and is therefore a feasible marker for the disease. Mutations in MLH1, MSH2, MSH6 and PMS2, which are one of the main causes of deficient mismatch repair and subsequent MSI, have been linked to the disease. In order to establish the role of each of the 4 genes in Slovenian Lynch syndrome patients, we performed MSI analysis on 593 unselected CRC patients and subsequently searched for the presence of point mutations, larger genomic rearrangements and MLH1 promoter hypermethylation in patients with MSI-high tumours. We detected 43 (7.3%) patients with MSI-H tumours, of which 7 patients (1.3%) harboured germline defects: 2 in MLH1, 4 in MSH2, 1 in PMS2 and none in MSH6. Twenty-nine germline sequence variations of unknown significance and 17 deleterious somatic mutations were found. MLH1 promoter methylation was detected in 56% of patients without detected germline defects and in 1 (14%) suspected Lynch syndrome. Due to the minor role of germline MSH6 mutations, we adapted the Lynch syndrome detection strategy for the Slovenian population of CRC patients, whereby germline alterations should be first sought in MLH1 and MSH2 followed by a search for larger genomic rearrangements in these two genes. When no germline mutations are found tumors should be further tested for the presence of germline defects in PMS2 and MSH6. The choice about which gene should be tested first can be guided more accurately by the immunohistochemical analysis. Our study demonstrates that the incidence of MMR mutations in a population should be known prior to the application of one of several suggested strategies for detection of Lynch syndrome.

  7. Modeling Coupled THM Processes and Brine Migration in Salt at High Temperatures

    International Nuclear Information System (INIS)

    Rutqvist, Jonny; Blanco-Martin, Laura; Molins, Sergi; Trebotich, David; Birkholzer, Jens

    2015-01-01

    In this report, we present FY2015 progress by Lawrence Berkeley National Laboratory (LBNL) related to modeling of coupled thermal-hydrological-mechanical-chemical (THMC) processes in salt and their effect on brine migration at high temperatures. This is a combined milestone report related to milestone Salt R&D Milestone ''Modeling Coupled THM Processes and Brine Migration in Salt at High Temperatures'' (M3FT-15LB0818012) and the Salt Field Testing Milestone (M3FT-15LB0819022) to support the overall objectives of the salt field test planning.

  8. Modeling Coupled THM Processes and Brine Migration in Salt at High Temperatures

    Energy Technology Data Exchange (ETDEWEB)

    Rutqvist, Jonny [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Blanco-Martin, Laura [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Molins, Sergi [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Trebotich, David [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Birkholzer, Jens [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

    2015-09-01

    In this report, we present FY2015 progress by Lawrence Berkeley National Laboratory (LBNL) related to modeling of coupled thermal-hydrological-mechanical-chemical (THMC) processes in salt and their effect on brine migration at high temperatures. This is a combined milestone report related to milestone Salt R&D Milestone “Modeling Coupled THM Processes and Brine Migration in Salt at High Temperatures” (M3FT-15LB0818012) and the Salt Field Testing Milestone (M3FT-15LB0819022) to support the overall objectives of the salt field test planning.

  9. Evaluation of the bioactivities of some Myanmar medicinal plants using brine shrimp (Artemia salina) toxicity test

    International Nuclear Information System (INIS)

    Sabai; Khin Khin Win Aung; Nwe Ni Thin; Kyi Shwe; Tin Myint Htwe

    2001-01-01

    For a variety of toxic substances, brine shrimp larvae (Artemia salina) are usually used as a simple bioassay method and it is also applied for natural product research. The brine shrimp larvae (nauplii) are obtained by natural hatching method from Artemia cysts. By using the larvae, the results from these experiments lead to the lethal dose, LD 50 values of extracts of selected medicinal plants. Activities of a broad range of plant extracts are manifested as toxicity to the brine shrimp. Screening results with six plant extracts are compared with pure caffeine. This method is rapid, reliable, inexpensive and convenient. (author)

  10. Rock-fluid chemical interactions at reservoir conditions: The influence of brine chemistry and extent of reaction

    Science.gov (United States)

    Anabaraonye, B. U.; Crawshaw, J.; Trusler, J. P. M.

    2016-12-01

    Following carbon dioxide injection in deep saline aquifers, CO2 dissolves in the formation brines forming acidic solutions that can subsequently react with host reservoir minerals, altering both porosity and permeability. The direction and rates of these reactions are influenced by several factors including properties that are associated with the brine system. Consequently, understanding and quantifying the impacts of the chemical and physical properties of the reacting fluids on overall reaction kinetics is fundamental to predicting the fate of the injected CO2. In this work, we present a comprehensive experimental study of the kinetics of carbonate-mineral dissolution in different brine systems including sodium chloride, sodium sulphate and sodium bicarbonate of varying ionic strengths. The impacts of the brine chemistry on rock-fluid chemical reactions at different extent of reactions are also investigated. Using a rotating disk technique, we have investigated the chemical interactions between the CO2-saturated brines and carbonate minerals at conditions of pressure (up to 10 MPa) and temperature (up to 373 K) pertinent to carbon storage. The changes in surface textures due to dissolution reaction were studied by means of optical microscopy and vertical scanning interferometry. Experimental results are compared to previously derived models.

  11. Thermal gradient brine inclusion migration in salt study: gas-liquid inclusions, preliminary model

    International Nuclear Information System (INIS)

    Olander, D.R.; Machiels, A.J.

    1979-10-01

    Natural salt deposits contain small cubical inclusions of brine distributed through the salt. Temperature gradients, resulting from storing heat-generating wastes in the salt, can cause the inclusions to move through the salt. Prediction of the rate and amount of brine-inclusion migration is necessary for the evaluation of bedded or domed salts as possible media for waste repositories. Inclusions filled exclusively with liquid migrate up the temperature gradient towards the heat source. The solubility of salt in the brine inclusion increases with temperature. Consequently, salt dissolves into the inclusion across the hot surface and crystallizes out at the cold surface. Diffusion of salt within the liquid phase from the hot to the cold faces causes the inclusions to move in the opposite direction. In so doing, they change shape and eventually become rectangular parallelipipeds with a width (dimension perpendicular to the thermal gradient) much larger than the thickness (dimension in the direction of the thermal gradient). The inclusions may also contain a gas phase predominantly consisting of water vapor. These entities are termed two-phase or gas-liquid inclusions. The two-phase inclusions usually migrate down the temperature gradient away from the heat source remaining more-or-less cubical. A two-phase inclusion also forms when an all-liquid inclusion reaches the waste package; upon opening up at the salt-package interface, the brine partially evaporates and the inclusion reseals with some insoluble gas trapped inside. These gas-liquid inclusions proceed to move down the temperature gradient, in the opposite sense of the all-liquid inclusions. The gas-liquid inclusions phenomenon provides a pathway by which radionuclides leached from the wasteform by the brine can be transported away from the waste package and thus might have greater access to the biosphere

  12. The determination of vanadium in brines by atomic absorption spectroscopy

    Science.gov (United States)

    Crump-Wiesner, Hans J.; Feltz, H.R.; Purdy, W.C.

    1971-01-01

    A standard addition method is described for the determination of vanadium in brines by atomic absorption spectroscopy with a nitrous oxide-acetylene flame. Sample pH is adjusted to 1.0 with concentrated hydrochloric acid and the vanadium is directly extracted with 5% cupferron in methyl isobutyl ketone (MIBK). The ketone layer is then aspirated into the flame and the recorded absorption values are plotted as a function of the concentration of the added metal. As little as 2.5 ??g l-1 of vanadium can be detected under the conditions of the procedure. Tungsten and tin interfere when present in excess of 5 and 10 ??g ml-1, respectively. The concentrations of the two interfering ions normally found in brines are well below interference levels. ?? 1971.

  13. Modeling gas and brine migration for assessing compliance of the Waste Isolation Pilot Plant

    International Nuclear Information System (INIS)

    Vaughn, P.; Butcher, B.; Helton, J.; Swift, P.

    1993-10-01

    At the request of the WIPP Project Integration Office (WPIO) of the DOE, the WIPP Performance Assessment (PA) Department of Sandia National Laboratories (SNL) has completed preliminary uncertainty and sensitivity analyses of gas and brine migration away from the undisturbed repository. This paper contains descriptions of the numerical model and simulations, including model geometries and parameter values, and a summary of major conclusions from sensitivity analyses. Because significant transport of contaminants can only occur in a fluid (gas or brine) medium, two-phase flow modeling can provide an estimate of the distance to which contaminants can migrate. Migration of gas or brine beyond the RCRA ''disposal-unit boundary'' or the Standard's accessible environment constitutes a potential, but not certain, violation and may require additional evaluations of contaminant concentrations

  14. Smoking and colorectal cancer in Lynch syndrome: Results from the Colon Cancer Family Registry and The University of Texas M. D. Anderson Cancer Center

    Science.gov (United States)

    Pande, Mala; Lynch, Patrick M.; Hopper, John L.; Jenkins, Mark A.; Gallinger, Steve; Haile, Robert W.; LeMarchand, Loic; Lindor, Noralane M.; Campbell, Peter T.; Newcomb, Polly A.; Potter, John D.; Baron, John A.; Frazier, Marsha L.; Amos, Christopher I.

    2009-01-01

    Purpose Lynch syndrome family members with inherited germline mutations in DNA mismatch repair (MMR) genes have a high risk of colorectal cancer (CRC) and cases typically have tumors that exhibit a high level of microsatellite instability (MSI). There is some evidence that smoking is a risk factor for CRCs with high MSI, but the association of smoking with CRC among those with Lynch syndrome is unknown. Experimental Design A multicentered retrospective cohort of 752 carriers of pathogenic MMR gene mutations was analyzed, using a weighted Cox regression analysis, adjusting for sex, ascertainment source, the specific mutated gene, year of birth, and familial clustering. Results Compared with never smokers, current smokers had a significantly increased CRC risk (adjusted hazard ratio [HR] = 1.62; 95% CI, 1.01 – 2.57) and former smokers who had quit smoking for 2 or more years were at decreased risk (HR = 0.53; 95% CI, 0.35 – 0.82). CRC risk did not vary according to age at starting. However, light smoking (Lynch syndrome may be at increased risk of CRC if they smoke regularly. Although our data suggest that former smokers, short-term and light smokers are at decreased CRC risk, these findings need further confirmation, preferably using prospective designs. PMID:20145170

  15. Laboratory tests to determine the effect of Olkiluoto bounding brine water on buffer performance

    International Nuclear Information System (INIS)

    Martikainen, J.; Schatz, T.

    2011-10-01

    This report presents a set of results from laboratory studies on the effect of bounding brine water exposure on buffer performance. In order to evaluate the effect of bounding brine water exposure on compacted bentonite buffer performance a series of experiments were conducted using swelling pressure and hydraulic conductivity measurements as follows: Direct exposure measurements were performed on MX-80 bentonite samples encompassing a range of dry density values from 1334 to 1585 kg/m 3 . These samples were saturated directly with a 70 g/L solution composed of calcium and sodium chloride at a Ca 2+ /Na + mass ratio of 3:2. Direct exposure measurements were performed on IBECO RWC samples encompassing a range of dry density values from 1314 to 1564 kg/m 3 . These samples were saturated directly with a 68.45 g/L solution composed of calcium and sodium chloride at a Ca 2+ /Na + mass ratio of 3.2:2. A set of MX-80 and IBECO RWC samples encompassing a range of dry density values from 1018 to 1607 kg/m 3 were initially saturated with tap water followed by (indirect) exposure to a 68.45 g/L solution composed of calcium and sodium chloride at a Ca 2+ /Na + mass ratio of 3.2:2. Sample swelling pressures were continuously monitored and hydraulic conductivity measurements were performed at each constant swelling pressure condition. In some cases, exchangeable cation analyses were performed. The specific test results are summarized as follows: All of the measured swelling pressure values upon exposure to bounding brine water were lower than the corresponding values after saturation with tap water. The relative swelling pressure decrease for the IBECO RWC samples was approximately half of the corresponding decrease for the MX-80 samples. On exposure to bounding brine water, hydraulic conductivity values were increased at the lowest densities, for both the MX-80 and IBECO samples, while at higher densities hydraulic conductivity values were essentially equivalent, for both the

  16. Uranium-thorium series radionuclides in brines and reservoir rocks from two deep geothermal boreholes in the Salton Sea Geothermal Field, southeastern California

    Science.gov (United States)

    Zukin, Jeffrey G.; Hammond, Douglas E.; Teh-Lung, Ku; Elders, Wilfred A.

    1987-10-01

    Naturally occurring U and Th series radionuclides have been analyzed in high temperature brines (~300°C, 25 wt% dissolved solids) and associated rocks from two deep geothermal wells located on the northeastern margin of the Salton Sea Geothermal Field (SSGF). These data are part of a study of the SSGF as a natural analog of possible radionuclide behavior near a nuclear waste repository constructed in salt beds, and permit evaluation of some characteristics of water-rock interaction in the SSGF. Rock/Brine concentration ratios ( Rc = (dpm/ g) rock/(dpm/ g) brine) were found to vary from near unity for isotopes of Ra, Pb and Rn to about 5 × 10 5 for 232Th. The high sorptivity of 232Th is closely followed by that of 238U and 234U ( Rc ~ 5 × 10 4), suggesting that U is retained in the +4 oxidation state by the reducing conditions in the brines. The relatively high solubility of 210Pb and 212Pb is attributed to formation of chloride complexes, while the high Ra solubility is attributed to chloride complexing, a lack of suitable adsorption sites due to the high brine salinity and temperature, and the reducing conditions that prevent MnO 2 and RaSO 4 from forming. The 228Ra /226Ra ratios in the brines are approximately equal to those of their parents ( 232Th /230Th ) in associated rocks, indicating that Ra equilibration in the brine-rock system is achieved within the mean life of 228Ra (8.3 years). The 224Ra /228Ra ratios in these brines are about 0.7, indicating that either (1) brine composition is not homogeneous and 224Ra decays in fracture zones deficient in Ra and Th as the brine travels to the wellhead or (2) Ra equilibration in the brine-host rock system is not complete within the mean life of 224Ra (5.2 days) because the desorption of 224Ra from the solid phase is impeded. The 228Ac /228Ra activity ratio in the SSGF brines studied is <0.1, and from this ratio the residence time of 228Ac in the brine before sorption onto solid surfaces is estimated to be <70

  17. Kinetics of ikaite precipitation and dissolution in seawater-derived brines at sub-zero temperatures to 265 K

    Science.gov (United States)

    Papadimitriou, Stathys; Kennedy, Hilary; Kennedy, Paul; Thomas, David N.

    2014-09-01

    The kinetics of calcium carbonate hexahydrate (ikaite) precipitation and dissolution were investigated in seawater and seawater-derived brines at sub-zero temperatures using the constant addition experimental technique. The steady state rate of these two processes was found to be a function of the deviation of the solution from equilibrium with respect to ikaite and conformed to the same empirical rate law as the anhydrous CaCO3 polymorphs, calcite and aragonite. In addition to the saturation state of the brine with respect to ikaite, the salinity of the brine and the temperature of the reaction evidently exerted some control on the ikaite precipitation kinetics, while the dissolution kinetics of the polymorph were not noticeably influenced by these two parameters. The experimental salinity and temperature conditions were equivalent to those at thermal equilibrium between brine and ice in the sea ice cover of polar seas. Simple modelling of the CO2 system by extrapolation of the oceanic equivalent to sea ice brines showed that the physical concentration of seawater ions and the changes in ikaite solubility as a function of salinity and temperature, both inherent in the sea ice system, would be insufficient to drive the emergent brines to ikaite supersaturation and precipitation in sea ice down to -8 °C. The loss of dissolved inorganic carbon to the gas phase of sea ice and to sympagic autotrophs are two independent mechanisms which, in nature, could prompt the brine CO2 system towards ikaite supersaturation and precipitation. Under these conditions, the steady state precipitation rate of ikaite was found to be fast enough for rapid formation within short time scales (days to weeks) in sea ice. The observed ikaite dissolution kinetics were also found conducive to short turn-over time scales of a few hours to a few days in corrosive solutions, such as surface seawater.

  18. Review: Water recovery from brines and salt-saturated solutions: operability and thermodynamic efficiency considerations for desalination technologies.

    Science.gov (United States)

    Vane, Leland M

    2017-03-08

    When water is recovered from a saline source, a brine concentrate stream is produced. Management of the brine stream can be problematic, particularly in inland regions. An alternative to brine disposal is recovery of water and possibly salts from the concentrate. This review provides an overview of desalination technologies and discusses the thermodynamic efficiencies and operational issues associated with the various technologies particularly with regard to high salinity streams. Due to the high osmotic pressures of the brine concentrates, reverse osmosis, the most common desalination technology, is impractical. Mechanical vapor compression which, like reverse osmosis, utilizes mechanical work to operate, is reported to have the highest thermodynamic efficiency of the desalination technologies for treatment of salt-saturated brines. Thermally-driven processes, such as flash evaporation and distillation, are technically able to process saturated salt solutions, but suffer from low thermodynamic efficiencies. This inefficiency could be offset if an inexpensive source of waste or renewable heat could be used. Overarching issues posed by high salinity solutions include corrosion and the formation of scales/precipitates. These issues limit the materials, conditions, and unit operation designs that can be used.

  19. Dietary patterns and colorectal adenomas in Lynch syndrome: the GEOLynch cohort study.

    Science.gov (United States)

    Botma, Akke; Vasen, Hans F A; van Duijnhoven, Fränzel J B; Kleibeuker, Jan H; Nagengast, Fokko M; Kampman, Ellen

    2013-02-01

    Patients with Lynch syndrome (LS) have a high risk of developing colorectal cancer due to mutations in mismatch repair genes. Because dietary factors, alone and in combination, influence sporadic colorectal carcinogenesis, the association of dietary patterns with colorectal adenomas in LS patients was assessed. In the GEOLynch cohort of 486 persons with LS, dietary information was collected, using a food frequency questionnaire. Dietary pattern scores were obtained by principal components analysis. Hazard ratios (HR) between dietary patterns and colorectal adenomas were calculated using Cox regression models. Robust sandwich variance estimates were used to control for dependency within families. Final models were adjusted for age, sex, smoking habits, colorectal adenoma history, and extent of colon resection. During a median follow-up of 20 months, colorectal adenomas were detected in 58 persons. Four dietary patterns were identified: a "Prudent," "Meat," "Snack," and "Cosmopolitan" pattern. Individuals within the highest tertile of the "Prudent" pattern had a HR of 0.73 (95% confidence interval [CI], 0.32-1.66) for colorectal adenomas, compared with the lowest tertile. Those with high "Meat" pattern scores had a HR of 1.70 (95% CI, 0.83-3.52). A high "Snack" pattern was associated with an increased risk of colorectal adenomas (HR, 2.16; 95% CI, 1.03-4.49). A HR of 1.25 (95% CI, 0.61-2.55) was observed for persons in the highest tertile of the "Cosmopolitan" pattern. These findings suggest that dietary patterns may be associated with development of colorectal adenoma in patients with Lynch syndrome. The directions of these findings are corroborative with those observed in studies investigating sporadic colorectal cancer. Copyright © 2012 American Cancer Society.

  20. West Hackberry Strategic Petroleum Reserve site brine-disposal monitoring, Year I report. Volume III. Biological oceanography. Final report

    Energy Technology Data Exchange (ETDEWEB)

    DeRouen, L.R.; Hann, R.W.; Casserly, D.M.; Giammona, C.; Lascara, V.J. (eds.)

    1983-02-01

    The Department of Energy's Strategic Petroleum Reserve Program began discharging brine into the Gulf of Mexico from its West Hackberry site near Cameron, Louisiana in May 1981. The brine originates from underground salt domes being leached with water from the Intracoastal Waterway, making available vast underground storage caverns for crude oil. The effects of brine discharge on aquatic organisms are presented in this volume. The topics covered are: benthos; nekton; phytoplankton; zooplankton; and data management.

  1. Brine transport in porous media self-similar solutions

    NARCIS (Netherlands)

    C.J. van Duijn (Hans); L.A. Peletier (Bert); R.J. Schotting (Ruud)

    1996-01-01

    textabstractIn this paper we analyze a model for brine transport in porous media, which includes a mass balance for the fluid, a mass balance for salt, Darcy's law and an equation of state, which relates the fluid density to the salt mass fraction. This model incorporates the effect of local volume

  2. Experimental Study of Cement - Sandstone/Shale - Brine - CO2 Interactions.

    Science.gov (United States)

    Carroll, Susan A; McNab, Walt W; Torres, Sharon C

    2011-11-11

    Reactive-transport simulation is a tool that is being used to estimate long-term trapping of CO2, and wellbore and cap rock integrity for geologic CO2 storage. We reacted end member components of a heterolithic sandstone and shale unit that forms the upper section of the In Salah Gas Project carbon storage reservoir in Krechba, Algeria with supercritical CO2, brine, and with/without cement at reservoir conditions to develop experimentally constrained geochemical models for use in reactive transport simulations. We observe marked changes in solution composition when CO2 reacted with cement, sandstone, and shale components at reservoir conditions. The geochemical model for the reaction of sandstone and shale with CO2 and brine is a simple one in which albite, chlorite, illite and carbonate minerals partially dissolve and boehmite, smectite, and amorphous silica precipitate. The geochemical model for the wellbore environment is also fairly simple, in which alkaline cements and rock react with CO2-rich brines to form an Fe containing calcite, amorphous silica, smectite and boehmite or amorphous Al(OH)3. Our research shows that relatively simple geochemical models can describe the dominant reactions that are likely to occur when CO2 is stored in deep saline aquifers sealed with overlying shale cap rocks, as well as the dominant reactions for cement carbonation at the wellbore interface.

  3. Brine treatment, smoking and storage techniques: their effects on the ...

    African Journals Online (AJOL)

    Journal of Food Technology in Africa ... Brine treatment, smoking and storage techniques: their effects on the microbial quality of smoked mackerel. ... off odour development, softening of the fish and positively affected personal preference.

  4. Partition behavior of virgin olive oil phenolic compounds in oil-brine mixtures during thermal processing for fish canning.

    Science.gov (United States)

    Sacchi, Raffaele; Paduano, Antonello; Fiore, Francesca; Della Medaglia, Dorotea; Ambrosino, Maria Luisa; Medina, Isabel

    2002-05-08

    The chemical modifications and partitioning toward the brine phase (5% salt) of major phenol compounds of extra virgin olive oil (EVOO) were studied in a model system formed by sealed cans filled with oil-brine mixtures (5:1, v/v) simulating canned-in-oil food systems. Filled cans were processed in an industrial plant using two sterilization conditions commonly used during fish canning. The partitioning of phenolic compounds toward brine induced by thermal processing was studied by reversed-phase high-performance liquid chromatographic analysis of the phenol fraction extracted from oils and brine. Hydroxytyrosol (1), tyrosol (2), and the complex phenolic compounds containing 1 and 2 (i.e., the dialdehydic form of decarboxymethyl oleuropein aglycon 3, the dialdehydic form of decarboxymethyl ligstroside aglycon 4, and the oleuropein aglycon 6) decreased in the oily phase after sterilization with a marked partitioning toward the brine phase. The increase of the total amount of 1 and 2 after processing, as well as the presence of elenolic acid 7 released in brine, revealed the hydrolysis of the ester bond of hydrolyzable phenolic compounds 3, 4, and 6 during thermal processing. Both phenomena (partitioning toward the water phase and hydrolysis) contribute to explain the loss of phenolic compounds exhibited by EVOO used as filling medium in canned foods, as well as the protection of n-3 polyunsaturated fatty acids in canned-in-EVOO fish products.

  5. Brine reuse in ion-exchange softening: salt discharge, hardness leakage, and capacity tradeoffs.

    Science.gov (United States)

    Flodman, Hunter R; Dvorak, Bruce I

    2012-06-01

    Ion-exchange water softening results in the discharge of excess sodium chloride to the aquatic environment during the regeneration cycle. In order to reduce sodium chloride use and subsequent discharge from ion-exchange processes, either brine reclaim operations can be implemented or salt application during regeneration can be reduced. Both result in tradeoffs related to loss of bed volumes treated per cycle and increased hardness leakage. An experimentally validated model was used to compare concurrent water softening operations at various salt application quantities with and without the direct reuse of waste brine for treated tap water of typical midwestern water quality. Both approaches were able to reduce salt use and subsequent discharge. Reducing salt use and discharge by lowering the salt application rate during regeneration consequently increased hardness leakage and decreased treatment capacity. Single or two tank brine recycling systems are capable of reducing salt use and discharge without increasing hardness leakage, although treatment capacity is reduced.

  6. Experimental alteration of R7T7 glass in salt brines at 90 deg C and 150 deg C

    International Nuclear Information System (INIS)

    Godon, N.; Vernaz, E.; Gin, S.; Beaufort, D.; Thomassin, J.H.

    1991-01-01

    Static experiments have been developed to investigate the R7T7 glass corrosion in four natural salt brines (brines 1 and 3: pure halite, brines 2 and 4: high Mg, K fluid inclusions rich halite), at 90 deg C and 150 deg C with 0.7 cm -1 S/V ratio and at 11 different running times. Analysis of brines after alteration (pHmeter and ICP) added to a detailed study of the crystalline phases developed at the interface glass-brine (XRD,SEM and Microprobe), showed that the influence of the compositional difference is more important on the nature of the secondary phases formed than on the corrosion rate of the glass. After 91 days of alteration at 150 deg C stady states to be reached (after 40 days at 90 deg C). A long term experiment (1 year) is necessary to confirm this hypothesis. 7 refs., 7 figs., 2 tabs

  7. Clinicopathological Features and Management of Cancers in Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Markku Aarnio

    2012-01-01

    Full Text Available Lynch syndrome (LS is characterized by an autosomal dominant inheritance of the early onset of colorectal cancer (CRC and endometrial cancer, as well as increased risk for several other cancers including gastric, urinary tract, ovarian, small bowel, biliary tract, and brain tumors. The syndrome is due to a mutation in one of the four DNA mismatch repair (MMR genes MLH1, MSH2, MSH6, or PMS2. The majority of LS patients and families can now be identified, and the underlying mutation detected using genetic diagnostics. Regular surveillance for CRC and endometrial cancer has proved beneficial for mutation carriers. However, screening for other tumors is also recommended even though experiences in the screening of these tumors is limited. Prophylactic colectomy, prophylactic hysterectomy, and bilateral salpingo-oophorectomy may be reasonable options for selected patients with LS. This paper describes the features and management of LS.

  8. Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome.

    Science.gov (United States)

    van der Klift, Heleen M; Tops, Carli M; Hes, Frederik J; Devilee, Peter; Wijnen, Juul T

    2012-07-01

    Heterozygous germline mutations in the mismatch repair gene PMS2 predispose carriers for Lynch syndrome, an autosomal dominant predisposition to cancer. Here, we present a LINE-1-mediated retrotranspositional insertion in PMS2 as a novel mutation type for Lynch syndrome. This insertion, detected with Southern blot analysis in the genomic DNA of the patient, is characterized as a 2.2 kb long 5' truncated SVA_F element. The insertion is not detectable by current diagnostic testing limited to MLPA and direct Sanger sequencing on genomic DNA. The molecular nature of this insertion could only be resolved in RNA from cultured lymphocytes in which nonsense-mediated RNA decay was inhibited. Our report illustrates the technical problems encountered in the detection of this mutation type. Especially large heterozygous insertions will remain unnoticed because of preferential amplification of the smaller wild-type allele in genomic DNA, and are probably underreported in the mutation spectra of autosomal dominant disorders. © 2012 Wiley Periodicals, Inc.

  9. Formation of magmatic brine lenses via focussed fluid-flow beneath volcanoes

    Science.gov (United States)

    Afanasyev, Andrey; Blundy, Jon; Melnik, Oleg; Sparks, Steve

    2018-03-01

    Many active or dormant volcanoes show regions of high electrical conductivity at depths of a few kilometres beneath the edifice. We explore the possibility that these regions represent lenses of high-salinity brine separated from a single-phase magmatic fluid containing H2O and NaCl. Since chloride-bearing fluids are highly conductive and have an exceptional capacity to transport metals, these regions can be an indication of an active hydrothermal ore-formation beneath volcanoes. To investigate this possibility we have performed hydrodynamic simulations of magma degassing into permeable rock. In our models the magma source is located at 7 km depth and the fluid salinity approximates that expected for fluids released from typical arc magmas. Our model differs from previous models of a similar process because it is (a) axisymmetric and (b) includes a static high-permeability pathway that links the magma source to the surface. This pathway simulates the presence of a volcanic conduit and/or plexus of feeder dykes that are typical of most volcanic systems. The presence of the conduit leads to a number of important hydrodynamic consequences, not observed in previous models. Importantly, we show that an annular brine lens capped by crystallised halite is likely to form above an actively degassing sub-volcanic magma body and can persist for more than 250 kyr after degassing ceases. Parametric analysis shows that brine lenses are more prevalent when the fluid is released at temperatures above the wet granite solidus, when magmatic fluid salinity is high, and when the high-permeability pathway is narrow. The calculated depth, form and electrical conductivity of our modelled system shares many features with published magnetotelluric images of volcano subsurfaces. The formation and persistence of sub-volcanic brine lenses has implications for geothermal systems and hydrothermal ore formation, although these features are not explored in the presented model.

  10. Chemistry of brines in salt from the Waste Isolation Pilot Plant (WIPP), southeastern New Mexico: a preliminary investigation

    International Nuclear Information System (INIS)

    Stein, C.L.; Krumhansl, J.L.

    1986-03-01

    We present here analyses of macro- and microscopic (intracrystalline) brines observed within the WIPP facility and in the surrounding halite, with interpretations regarding the origin and history of these fluids and their potential effect(s) on long-term waste storage. During excavation, several large fluid inclusions were recovered from an area of highly recrystallized halite in a thick salt bed at the repository horizon (2150 ft below ground level). In addition, 52 samples of brine ''weeps'' were collected from walls of recently excavated drifts at the same stratigraphic horizon from which the fluid inclusion samples are assumed to have been taken. Analyses of these fluids show that they differ substantially in composition from the inclusion fluids and cannot be explained by mixing of the fluid inclusion populations. Finally, holes in the facility floor that filled with brine were sampled but with no stratographic control; therefore it is not possible to interpret the compositions of these brines with any accuracy, except insofar as they resemble the weep compositions but with greater variation in both K/Mg and Na/Cl ratios. However, the Ca and SO 4 values for the floor holes are relatively close to the gypsum saturation curve, suggesting that brines filling floor holes have been modified by the presence of gypsum or anhydrite, possibly even originating in one or more of the laterally continuous anhydrite units referred to in the WIPP literature as marker beds. In conclusion, the wide compositional variety of fluids found in the WIPP workings suggest that (1) an interconnected hydrologic system which could effectively transport radonuclides away from the repository does not exist; (2) brine migration studies and experiments must consider the mobility of intergranular fluids as well as those in inclusions; and (3) near- and far-field radionuclide migration testing programs need to consider a wide range of brine compositions rather than a few reference brines

  11. Geochemical evolution of brines in the Salar of Uyuni, Bolivia.

    Science.gov (United States)

    Rettig, S.L.; Jones, B.F.; Risacher, F.

    1980-01-01

    Recent analyses of brines from the Salars of Uyuni and Coipasa have been compared with published data for Lakes Titicaca and Poopo to evaluate solute compositional trends in these remnants of two large Pleistocene lakes once connected by overflow from the N to the S of the Bolivian Altiplano. From Titicaca to Poopo the water shows an increase in Cl and N somewhat greater than the total solutes. Ca and SO4 increase to a lesser extent than total dissolved solids, and carbonate species are relatively constant. Between Poopo and Coipasa proportions of Ca, SO4 and CO3 continue to decrease. At Coipasa and Uyuni, the great salars frequently evaporate to halite saturation. Halite crystallization is accompanied by an increased K, Mg and SO4 in residual brines. - from Authors

  12. Experimental investigation of CO2-brine-rock interactions at elevated temperature and pressure: Implications for CO2 sequestration in deep-saline aquifers

    Science.gov (United States)

    Rosenbauer, R.J.; Koksalan, T.; Palandri, J.L.

    2005-01-01

    Deep-saline aquifers are potential repositories for excess CO2, currently being emitted to the atmosphere from anthropogenic activities, but the reactivity of supercritical CO2 with host aquifer fluids and formation minerals needs to be understood. Experiments reacting supercritical CO2 with natural and synthetic brines in the presence and absence of limestone and plagioclase-rich arkosic sandstone showed that the reaction of CO2-saturated brine with limestone results in compositional, mineralogical, and porosity changes in the aquifer fluid and rock that are dependent on initial brine composition, especially dissolved calcium and sulfate. Experiments reacting CO2-saturated, low-sulfate brine with limestone dissolved 10% of the original calcite and increased rock porosity by 2.6%. Experiments reacting high-sulfate brine with limestone, both in the presence and absence of supercritical CO2, were characterized by the precipitation of anhydrite, dolomitization of the limestone, and a final decrease in porosity of 4.5%. However, based on favorable initial porosity changes of about 15% due to the dissolution of calcite, the combination of CO2 co-injection with other mitigation strategies might help alleviate some of the well-bore scale and formation-plugging problems near the injection zone of a brine disposal well in Paradox Valley, Colorado, as well as provide a repository for CO2. Experiments showed that the solubility of CO2 is enhanced in brine in the presence of limestone by 9% at 25 ??C and 6% at 120 ??C and 200 bar relative to the brine itself. The solubility of CO2 is enhanced also in brine in the presence of arkosic sandstone by 5% at 120 ??C and 300 bar. The storage of CO 2 in limestone aquifers is limited to only ionic and hydraulic trapping. However, brine reacted with supercritical CO2 and arkose yielded fixation and sequestration of CO2 in carbonate mineral phases. Brine desiccation was observed in all experiments containing a discrete CO2 phase

  13. Effect of different brine concentrations and ripening period on some ...

    African Journals Online (AJOL)

    Administrator

    2011-09-26

    25240, Erzurum, Turkey. Accepted 25 ... ripened soft cheese that is maturated in brine to develop the desired ... functions, salt exerts a number of important effects on cheese. ..... In: Fox PF (ed) Cheese: chemistry, physics and.

  14. determination of toxicity levels of some savannah plants using brine

    African Journals Online (AJOL)

    DR. AMINU

    DETERMINATION OF TOXICITY LEVELS OF SOME SAVANNAH PLANTS. USING BRINE ... Adoum, O. A.. Department of Pure and Industrial Chemistry, Bayero University, P.M.B. 3011, Kano – Nigeria. ... 1000, 100, and 10 µg/ml, respectively.

  15. Waste isolation pilot plant performance assessment: Radionuclide release sensitivity to diminished brine and gas flows to/from transuranic waste disposal areas

    Energy Technology Data Exchange (ETDEWEB)

    Day, Brad A.; Camphouse, R. C.; Zeitler, Todd R. [Sandia National Laboratories, Carlsbad (United States)

    2017-03-15

    Waste Isolation Pilot Plant repository releases are evaluated through the application of modified parameters to simulate accelerated creep closure, include capillary pressure effects on relative permeability, and increase brine and gas saturation in the operations and experimental (OPS/EXP) areas. The modifications to the repository model result in increased pressures and decreased brine saturations in waste areas and increased pressures and brine saturations in the OPS/EXP areas. Brine flows up the borehole during a hypothetical drilling intrusion are nearly identical and brine flows up the shaft are decreased. The modified parameters essentially halt the flow of gas from the southern waste areas to the northern nonwaste areas, except as transported through the marker beds and anhydrite layers. The combination of slightly increased waste region pressures and very slightly decreased brine saturations result in a modest increase in spallings and no significant effect on direct brine releases, with total releases from the Culebra and cutting and caving releases unaffected. Overall, the effects on total high-probability mean releases from the repository are insignificant, with total low-probability mean releases minimally increased. It is concluded that the modified OPS/EXP area parameters have an insignificant effect on the prediction of total releases.

  16. La mujer en el radiador en Cabeza borradora (Eraserhead, 1972-1976) de David Lynch: disección utópica del ojo

    OpenAIRE

    Villaplana Ruiz, Virginia

    1998-01-01

    Villaplana, V. (1998). La mujer en el radiador en Cabeza borradora (Eraserhead, 1972-1976) de David Lynch: disección utópica del ojo. Banda aparte. (11):29-31. http://hdl.handle.net/10251/43165. 29 31 11

  17. Modelling CO2-Brine Interfacial Tension using Density Gradient Theory

    KAUST Repository

    Ruslan, Mohd Fuad Anwari Che

    2018-01-01

    In this study, a new modelling strategy to compute CO2-brine IFT based on DGT was proposed. In the proposed model, ion distribution across interface was accounted for by separating the interface to two sections

  18. Solar desalination, brine and fine chemicals - a preliminary report

    Digital Repository Service at National Institute of Oceanography (India)

    Shirodkar, P.V.; Nagarajan, R.

    Solar stills put into operation by taking known quantities of sea water of different salinities varying from 27.75-36.27 x 10 super(3) during April-May 1990, indicated fresh water yield of 55-68% (av. 64). The volumes of brine as well as those...

  19. Antagonism Between Osmophilic Lactic Acid Bacteria and Yeasts in Brine Fermentation of Soy Sauce

    OpenAIRE

    Noda, Fumio; Hayashi, Kazuya; Mizunuma, Takeji

    1980-01-01

    Brine fermentation by osmophilic lactic acid bacteria and yeasts for long periods of time is essential to produce a good quality of shoyu (Japanese fermented soy sauce). It is well known that lactic acid fermentation by osmophilic lactic acid bacteria results in the depression of alcoholic fermentation by osmophilic yeasts, but the nature of the interaction between osmophilic lactic acid bacteria and yeasts in brine fermentation of shoyu has not been revealed. The inhibitory effect of osmophi...

  20. PILOT TESTING: PRETREATMENT OPTIONS TO ALLOW RE-USE OF FRAC FLOWBACK AND PRODUCED BRINE FOR GAS SHALE RESOURCE DEVELOPMENT

    Energy Technology Data Exchange (ETDEWEB)

    Burnett, David

    2012-12-31

    The goal of the A&M DOE NETL Project No. DE-FE0000847 was to develop a mobile, multifunctional water treatment capability designed specifically for “pre-treatment” of field waste brine. The project consisted of constructing s mobile “field laboratory” incorporating new technology for treating high salinity produced water and using the lab to conduct a side-by-side comparison between this new technology and that already existing in field operations. A series of four field trials were performed utilizing the mobile unit to demonstrate the effectiveness of different technology suitable for use with high salinity flow back brines and produced water. The design of the mobile unit was based on previous and current work at the Texas A&M Separation Sciences Pilot Plant. The several treatment techniques which have been found to be successful in both pilot plant and field tests had been tested to incorporate into a single multifunctional process train. Eight different components were evaluated during the trials, two types of oil and grease removal, one BTEX removal step, three micro-filters, and two different nanofilters. The performance of each technique was measured by its separation efficiency, power consumption, and ability to withstand fouling. The field trials were a success. Four different field brines were evaluated in the first trial in New York. Over 16,000 gallons of brine were processed. Using a power cost of $.10 per kWh, media pretreatment power use averaged $0.004 per barrel, solids removal $.04 per barrel and brine “softening” $.84 per barrel. Total power cost was approximately $1.00 per barrel of fluid treated. In Pennsylvania, brines collected from frac ponds were tested in two additional trials. Each of the brines was converted to an oil-free, solids-free brine with no biological activity. Brines were stable over time and would be good candidates for use as a make-up fluid in a subsequent fracturing fluid design. Reports on all of the field

  1. Carbonate and carbon isotopic evolution of groundwater contaminated by produced water brine with hydrocarbons

    International Nuclear Information System (INIS)

    Atekwana, Eliot A.; Seeger, Eric J.

    2015-01-01

    The major ionic and dissolved inorganic carbon (DIC) concentrations and the stable carbon isotope composition of DIC (δ"1"3C_D_I_C) were measured in a freshwater aquifer contaminated by produced water brine with petroleum hydrocarbons. Our aim was to determine the effects of produced water brine contamination on the carbonate evolution of groundwater. The groundwater was characterized by three distinct anion facies: HCO_3"−-rich, SO_4"2"−-rich and Cl"−-rich. The HCO_3"−-rich groundwater is undergoing closed system carbonate evolution from soil CO_2_(_g_) and weathering of aquifer carbonates. The SO_4"2"−-rich groundwater evolves from gypsum induced dedolomitization and pyrite oxidation. The Cl"−-rich groundwater is contaminated by produced water brine and undergoes common ion induced carbonate precipitation. The δ"1"3C_D_I_C of the HCO_3"−-rich groundwater was controlled by nearly equal contribution of carbon from soil CO_2_(_g_) and the aquifer carbonates, such that the δ"1"3C of carbon added to the groundwater was −11.6‰. In the SO_4"2"−-rich groundwater, gypsum induced dedolomitization increased the "1"3C such that the δ"1"3C of carbon added to the groundwater was −9.4‰. In the produced water brine contaminated Cl"−-rich groundwater, common ion induced precipitation of calcite depleted the "1"3C such that the δ"1"3C of carbon added to the groundwater was −12.7‰. The results of this study demonstrate that produced water brine contamination of fresh groundwater in carbonate aquifers alters the carbonate and carbon isotopic evolution. - Highlights: • We studied carbonate and δ"1"3C evolution in groundwater contaminated by produced water brine. • Multiple processes affect the carbonate and δ"1"3C evolution of the groundwater. • The processes are carbonate weathering, dedolomitization and common ion induce calcite precipitation. • The δ"1"3C added to DIC was −11.6‰ for weathering, −9.4‰ for dedolomitization

  2. Reverse osmosis brine for phosphorus recovery from source separated urine.

    Science.gov (United States)

    Tian, Xiujun; Wang, Guotian; Guan, Detian; Li, Jiuyi; Wang, Aimin; Li, Jin; Yu, Zhe; Chen, Yong; Zhang, Zhongguo

    2016-12-01

    Phosphorus (P) recovery from waste streams has recently been recognized as a key step in the sustainable supply of this indispensable and non-renewable resource. The feasibility of using brine from a reverse osmosis (RO) membrane unit treating cooling water as a precipitant for P recovery from source separated urine was evaluated in the present study. P removal efficiency, process parameters and precipitate properties were investigated in batch and continuous flow experiments. More than 90% of P removal was obtained from both undiluted fresh and hydrolyzed urines by mixing with RO brine (1:1, v/v) at a pH over 9.0. Around 2.58 and 1.24 Kg of precipitates could be recovered from 1 m 3 hydrolyzed and fresh urine, respectively, and the precipitated solids contain 8.1-19.0% of P, 10.3-15.2% of Ca, 3.7-5.0% of Mg and 0.1-3.5% of ammonium nitrogen. Satisfactory P removal performance was also achieved in a continuous flow precipitation reactor with a hydraulic retention time of 3-6 h. RO brine could be considered as urinal and toilet flush water despite of a marginally higher precipitation tendency than tap water. This study provides a widely available, low - cost and efficient precipitant for P recovery in urban areas, which will make P recovery from urine more economically attractive. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Observations of brine drainage networks and microstructure of first-year sea ice

    Science.gov (United States)

    Cole, D. M.; Shapiro, L. H.

    1998-09-01

    Brine drainage networks and the microstructure of first-year sea ice have been examined at two locations near Barrow, northern Alaska. A method for obtaining full-depth sections of ice sheets up to 1.8 m thick is presented and shown to provide information on the spatial distribution and geometry of brine drainage networks on a scale of meters. A number of such sections from the two test sites are presented which reveal a greater variety of main channel and side branch configurations than is typically observed in ice grown in the laboratory. Vertical and horizontal micrographs and thin section photographs were obtained in November 1993, and March and May 1994 at a test site in the relatively protected Elson Lagoon. The resulting time series of photographic records provide detailed information on the size, shape, and spatial distribution of the brine- and gas-filled inclusions and a means to quantify their size and shape changes with time. An example of the changes with time in inclusion sizes and aspect ratios in the vertical and horizontal directions for a depth of 0.2 m, with a given thermal history is also presented.

  4. Solar desalination, brine and fine chemicals - a preliminary report

    Digital Repository Service at National Institute of Oceanography (India)

    Shirodkar, P.V.; Nagarajan, R.

    from 3.65 - 4.63 ppm. The definite volumes of seawater samples (3.7 litres) taken in stills for desalination correspond to 13.08 - 31.16 mg of net boron content. Analyses on the recovery of the total content of boron in brines as well as in the bitterns...

  5. West Hackberry Brine Disposal Project pre-discharge characterization. Final report

    Energy Technology Data Exchange (ETDEWEB)

    DeRouen, L.R.; Hann, R.W.; Casserly, D.M.; Giammona, C. (eds.)

    1982-01-01

    The physical, chemical and biological attributes are described for: (1) a coastal marine environment centered about a Department of Energy Strategic Petroleum Reserve (SPR) brine disposal site 11.4 km off the southwest coast of Louisiana; and (2) the lower Calcasieu and Sabine estuarine systems that provide leach waters for the SPR project. A three month sampling effort, February through April 1981, and previous investigations from the study area are integrated to establish baseline information for evaluation of impacts from brine disposal in the nearshore marine waters and from freshwater withdrawal from the coastal marsh of the Chenier Plain. January data are included for some tasks that sampled while testing and mobilizing their instruments prior to the February field effort. The study addresses the areas of physical oceanography, estuarine hydrology and hydrography, water and sediment quality, benthos, nekton, phytoplankton, zooplankton, and data management.

  6. Geochemistry of two pressurized brines from the Castile Formation in the vicinity of the Waste Isolation Pilot Plant (WIPP) site

    International Nuclear Information System (INIS)

    Faith, S.; Spiegler, P.; Rehfeldt, K.R.

    1983-04-01

    The major and minor element data and isotopic data from the ERDA-6 and WIPP-12 testing indicate that the brine reservoirs encountered in the Upper Castile Formation are largely in equilibrium with their surrounding host rock environment. This contention is supported by thermodynamic and stable isotope data. It is not possible to assign an absolute age to the brine based on uranium disequilibrium considerations, but the data do indicate that the brine reequilibrated with a new rock environment at least two million years ago. Information and data evaluated herein indicate the likelihood that the brines encountered are predominantly, if not entirely, derived from a trapped seawater source subsequently modified by diagenesis. Major ion/bromide ratios indicate that halite dissolution has occurred to some extent subsequent to deposition of the Castile anhydrites and entrapment of the seawater brine. Mechanisms for additional halite dissolution are discussed. Based on the degree of present halite saturation, it is concluded that the potential for future dissolution of halite is minimal

  7. Salting by Vacuum Brine Impregnation in Nitrite-Free Lonza: Effect on Enterobacteriaceae.

    Science.gov (United States)

    Serio, Annalisa; Chaves-López, Clemencia; Rossi, Chiara; Pittia, Paola; Rosa, Marco Dalla; Paparella, Antonello

    2017-01-24

    Lonza is a traditional Italian meat product made from whole pork muscles, which is typically cured by dry salting. In this work, we study the effects of vacuum brine impregnation (VBI) as an alternative salting method on the survival of Enterobacteriaceae, in presence and in absence of nitrites. In comparison with the traditional brining process, VBI contributed to reducing the Enterobacteriaceae population on product surface but induced contamination of the inner muscle tissues. Our results suggest that the species isolated became adapted to processing conditions, and salt tolerance was species- or strain-dependent. This result is of particular importance for future applications of VBI in lonza manufacturing.

  8. Salting by vacuum brine impregnation in nitrite-free lonza: effect on Enterobacteriaceae

    Directory of Open Access Journals (Sweden)

    Annalisa Serio

    2017-01-01

    Full Text Available Lonza is a traditional Italian meat product made from whole pork muscles, which is typically cured by dry salting. In this work, we study the effects of vacuum brine impregnation (VBI as an alternative salting method on the survival of Enterobacteriaceae, in presence and in absence of nitrites. In comparison with the traditional brining process, VBI contributed to reducing the Enterobacteriaceae population on product surface but induced contamination of the inner muscle tissues. Our results suggest that the species isolated became adapted to processing conditions, and salt tolerance was species- or straindependent. This result is of particular importance for future applications of VBI in lonza manufacturing.

  9. TOUGHREACT Testing in High Ionic Strength Brine Sandstone Systems

    International Nuclear Information System (INIS)

    Xu, Tianfu

    2008-01-01

    Deep saline formations and oil and gas reservoirs often contain concentrated brine solutions of ionic strength greater than 1 (I > 1 M). Geochemical modeling, involving high ionic strength brines, is a challenge. In the original TOUGHREACT code (Xu et al., 2004; Xu et al., 2006), activity coefficients of charged aqueous species are computed using an extended Debye-Huckel (DH) equation and parameters derived by Helgeson et al. (1981). The DH model can deal with ionic strengths from dilute to moderately saline water (up to 6 molal for an NaCl-dominant solution). The equations implemented for the DH model are presented in Appendix A. During the course of the Yucca Mountain project, a Pitzer ion-interaction model was implemented into TOUGHREACT. This allows the application of this simulator to problems involving much more concentrated aqueous solutions, such as those involving geochemical processes in and around high-level nuclear waste repositories where fluid evaporation and/or boiling is expected to occur (Zhang et al., 2007). The Pitzer ion-interaction model, which we refer to as the Pitzer virial approach, and associated ion-interaction parameters have been applied successfully to study non-ideal concentrated aqueous solutions. The formulation of the Pitzer model is presented in Appendix B; detailed information can be founded in Zhang et al. (2007). For CO 2 geological sequestration, the Pitzer ion-interaction model for highly concentrated brines was incorporated into TOUGHREACT/ECO2N, then was tested and compared with a previously implemented extended Debye-Hueckel (DH) ion activity model. The comparison was made through a batch geochemical system using a Gulf Coast sandstone saline formation

  10. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

    NARCIS (Netherlands)

    Klift, H.M. van der; Mensenkamp, A.R.; Drost, M.; Bik, E.C.; Vos, Y.J.; Gille, H.J.; Redeker, B.E.; Tiersma, Y.; Zonneveld, J.B.; Garcia, E.G.; Letteboer, T.G.; Olderode-Berends, M.J.; Hest, L.P. van; Os, T.A. van; Verhoef, S.; Wagner, A.; Asperen, C.J. van; Broeke, S.W. ten; Hes, F.J.; Wind, N. de; Nielsen, M.; Devilee, P.; Ligtenberg, M.J.L.; Wijnen, J.T.; Tops, C.M.

    2016-01-01

    Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are

  11. Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

    NARCIS (Netherlands)

    van der Klift, Heleen M.; Mensenkamp, Arjen R.; Drost, Mark; Bik, Elsa C.; Vos, Yvonne J.; Gille, Hans J. J. P.; Redeker, Bert E. J. W.; Tiersma, Yvonne; Zonneveld, Jose B. M.; Garcia, Encarna Gomez; Letteboer, Tom G. W.; Olderode-Berends, Maran J. W.; van Hest, Liselotte P.; van Os, Theo A.; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J.; ten Broeke, Sanne W.; Hes, Frederik J.; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J. L.; Wijnen, Juul T.; Tops, Carli M. J.

    Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are

  12. Brine contamination to aquatic resources from oil and gas development in the Williston Basin, United States

    Science.gov (United States)

    Gleason, Robert A.; Contributions by Chesley-Preston, Tara L.; Coleman, James L.; Haines, Seth S.; Jenni, Karen E.; Nieman, Timothy L.; Peterman, Zell E.; van der Burg, Max Post; Preston, Todd M.; Smith, Bruce D.; Tangen, Brian A.; Thamke, Joanna N.; Gleason, Robert A.; Tangen, Brian A.

    2014-01-01

    The Williston Basin, which includes parts of Montana, North Dakota, and South Dakota in the United States and the provinces of Manitoba and Saskatchewan in Canada, has been a leading domestic oil and gas producing region for more than one-half a century. Currently, there are renewed efforts to develop oil and gas resources from deep geologic formations, spurred by advances in recovery technologies and economic incentives associated with the price of oil. Domestic oil and gas production has many economic benefits and provides a means for the United States to fulfill a part of domestic energy demands; however, environmental hazards can be associated with this type of energy production in the Williston Basin, particularly to aquatic resources (surface water and shallow groundwater) by extremely saline water, or brine, which is produced with oil and gas. The primary source of concern is the migration of brine from buried reserve pits that were used to store produced water during recovery operations; however, there also are considerable risks of brine release from pipeline failures, poor infrastructure construction, and flow-back water from hydraulic fracturing associated with modern oilfield operations. During 2008, a multidisciplinary (biology, geology, water) team of U.S. Geological Survey researchers was assembled to investigate potential energy production effects in the Williston Basin. Researchers from the U.S. Geological Survey participated in field tours and met with representatives from county, State, tribal, and Federal agencies to identify information needs and focus research objectives. Common questions from agency personnel, especially those from the U.S. Fish and Wildlife Service, were “are the brine plumes (plumes of brine-contaminated groundwater) from abandoned oil wells affecting wetlands on Waterfowl Production Areas and National Wildlife Refuges?” and “are newer wells related to Bakken and Three Forks development different than the older

  13. A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one

    DEFF Research Database (Denmark)

    Kantelinen, Jukka; Hansen, Thomas V O; Kansikas, Minttu

    2011-01-01

    Inherited pathogenic mutations in the mismatch repair (MMR) genes, MSH2, MLH1, MSH6, and PMS2 predispose to Lynch syndrome (LS). However, the finding of a variant or variants of uncertain significance (VUS) in affected family members complicates the risk assessment. Here, we describe a putative LS...

  14. Handling the problem of the brine tubing bend on the basis of experiences gained during UGS - Mogilno construction

    International Nuclear Information System (INIS)

    Zola, P.; Skwarczynski, S.

    2005-01-01

    In the article problems of brine tubing bending and bent string cutting methods in the well conditions has been described. Implementation of safety joint in the brine string as an alternative solution that eliminates the need of cutting has been presented as well. (authors)

  15. Advanced oxidation of iodinated X-ray contrast media in reverse osmosis brines: the influence of quenching.

    Science.gov (United States)

    Azerrad, Sara P; Gur-Reznik, Shirra; Heller-Grossman, Lilly; Dosoretz, Carlos G

    2014-10-01

    Among the main restrictions for the implementation of advanced oxidation processes (AOPs) for removal of micropollutants present in reverse osmosis (RO) brines of secondary effluents account the quenching performed by background organic and inorganic constituents. Natural organic matter (NOM) and soluble microbial products (SMP) are the main effluent organic matter constituents. The inorganic fraction is largely constituted by chlorides and bicarbonate alkalinity with sodium and calcium as main counterions. The quenching influence of these components, separately and their mixture, in the transformation of model compounds by UVA/TiO2 was studied applying synthetic brines solutions mimicking 2-fold concentrated RO secondary effluents brines. The results were validated using fresh RO brines. Diatrizoate (DTZ) and iopromide (IOPr) were used as model compound. They have been found to exhibit relative high resistance to oxidation process and therefore represent good markers for AOPs techniques. Under the conditions applied, oxidization of DTZ in the background of RO brines was strongly affected by quenching effects. The major contribution to quenching resulted from organic matter (≈70%) followed by bicarbonate alkalinity (≈30%). NOM displayed higher quenching than SMP in spite of its relative lower concentration. Multivalent cations, i.e., Ca(+2), were found to decrease effectiveness of the technique due to agglomeration of the catalyst. However this influence was lowered in presence of NOM. Different patterns of transformation were found for each model compound in which a delayed deiodination was observed for iopromide whereas diatrizoate oxidation paralleled deiodination. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Effects of high salinity from desalination brine on growth, photosynthesis, water relations and osmolyte concentrations of seagrass Posidonia australis

    International Nuclear Information System (INIS)

    Cambridge, M L; Zavala-Perez, A; Cawthray, G R; Mondon, J; Kendrick, G A

    2017-01-01

    Highly saline brines from desalination plants expose seagrass communities to salt stress. We examined effects of raised salinity (46 and 54 psu) compared with seawater controls (37 psu) over 6 weeks on the seagrass, Posidonia australis, growing in tanks with the aim of separating effects of salinity from other potentially deleterious components of brine and determining appropriate bioindicators. Plants survived exposures of 2–4 weeks at 54 psu, the maximum salinity of brine released from a nearby desalination plant. Salinity significantly reduced maximum quantum yield of PSII (chlorophyll a fluorescence emissions). Leaf water potential (Ψ w ) and osmotic potential (Ψ π ) were more negative at increased salinity, while turgor pressure (Ψ p ) was unaffected. Leaf concentrations of K + and Ca 2+ decreased, whereas concentrations of sugars (mainly sucrose) and amino acids increased. We recommend leaf osmolarity, ion, sugar and amino acid concentrations as bioindicators for salinity effects, associated with brine released in desalination plant outfalls. - Highlights: • We separated salt effects of desalination brine from other deleterious components. • Sublethal salinity stress depended on both salinity increase and exposure time. • Very effective osmoregulation led to tolerance of short intervals of high salinity.

  17. Certain questions about analysis of natural gas disolved in brine

    Energy Technology Data Exchange (ETDEWEB)

    Tezuka, M; Nakamura, M; Omi, K

    1983-01-01

    The composition of the gaseous phase of stratum brines is determined and the analysis technique is described. Ordinary analysis is performed with the assumptions that the contents of small components (excluding C02 and N2) are ignorably small and that the gas contains no 02. The determined concentrations of 02 and the proportional share of N2 are calculated from results of analysis as bound with pollutants. The high sensitivity of modern analytical methods makes it possible to identify quite small and trace concentrations of components, but corrections for air contamination may partially depreciate these results. Data are cited from gas chromatographic identifications of the components of gases disolved in the stratum brines of a Japanese deposit. C2H6 is established in all samples and C3H8 in two thirds of the samples, where H2 and helium were not detected anywhere. The concentrations of the gas phase on the whole in the brine were low. 02 falls into the samples in a water dissolved state; this demands the use of unconventional proportion of 02 to N2 (1 to 3.55), which is characteristic for air and a proportion of 1 to 2 which is characteristic for disolved air. With the conventional ordinary technique the consideration of the air contamination leads to a substantial underestimate of the N2 results. At the same time, the incorrect introduction of corrections for N2 has no effect on the heat creativity of the disolved gas.

  18. Characterization of Phytochemicals and Antioxidant Activities of Red Radish Brines during Lactic Acid Fermentation

    Directory of Open Access Journals (Sweden)

    Pu Jing

    2014-07-01

    Full Text Available Red radish (Raphanus L. pickles are popular appetizers or spices in Asian-style cuisine. However, tons of radish brines are generated as wastes from industrial radish pickle production. In this study, we evaluated the dynamic changes in colour properties, phenolics, anthocyanin profiles, phenolic acid composition, flavonoids, and antioxidant properties in radish brines during lactic acid fermentation. The results showed that five flavonoids detected were four anthocyanins and one kaempferol derivative, including pelargonidin-3-digluoside-5-glucoside derivatives acylated with p-coumaric acid, ferulic acid, p-coumaric and manolic acids, or ferulic and malonic acids. Amounts ranged from 15.5–19.3 µg/mL in total monomeric anthocyanins, and kaempferol-3,7-diglycoside (15–30 µg/mL. 4-Hydroxy-benzoic, gentisic, vanillic, syringic, p-coumaric, ferulic, sinapic and salicylic acids were detected in amounts that varied from 70.2–92.2 µg/mL, whereas the total phenolic content was 206–220 µg/mL. The change in colour of the brine was associated with the accumulation of lactic acid and anthocyanins. The ORAC and Fe2+ chelation capacity of radish brines generally decreased, whereas the reducing power measured as FRAP values was increased during the fermentation from day 5 to day 14. This study provided information on the phytochemicals and the antioxidative activities of red radish fermentation waste that might lead to further utilization as nutraceuticals or natural colorants.

  19. Ultra-high chlorine in submarine Kı̄lauea glasses: Evidence for direct assimilation of brine by magma

    Science.gov (United States)

    Coombs, Michelle L.; Sisson, Thomas W.; Kimura, Jun-Ichi

    2004-01-01

    Basaltic glass grains from the submarine south flank of Kı̄lauea, Hawai′i, have Cl concentrations of 0.01–1.68 wt%, the latter being the highest Cl content yet recorded for a Hawaiian glass. The high-Cl glass grains are products of brine assimilation by tholeiite magma. The glasses are grains in a sandstone clast from bedded breccias draping the southwestern margin of Kı̄lauea’s submarine midslope bench. The clast contains two distinct suites of glass grains: abundant degassed tholeiites, perhaps derived from subaerial lavas of Mauna Loa that shattered upon ocean entry, and a smaller population of Kea-type tholeiite (n=17 analyzed) that erupted subaqueously, based on elevated S (780–1050 ppm), H2O (0.42–1.27 wt%), and CO2 (1000 ppm, six >5000 ppm, and two grains have >10 000 ppm dissolved Cl. Abundances of H2O, Na2O, K2O, and several trace elements increase regularly with Cl concentration, and we estimate that Cl enrichment was due to up to 13 wt% addition of a brine consisting of 78% H2O (wt), 13% Cl, 4.4% Na, 2.6% K, 2.6% Ca, 620 ppm Ba, 360 ppm Sr, 65 ppm Rb, and 7 ppm Pb. The large amounts of brine addition argue against bulk assimilation of low-porosity brine-bearing rock. The brine’s composition is appropriate for a seawater-derived hydrothermal fluid that reacted with basaltic wall rocks at T>100°C, losing Mg and S and gaining K, Ca, Rb, Ba, Sr, and Pb, followed by phase separation near 500°C and ∼50 MPa (5 km below sea level at hydrostatic pressure). Brine was assimilated at or near the depth it formed, as estimated on petrologic grounds, but under lithostatic conditions. The highest extents of assimilation either forced volatile saturation of the magma or enriched already coexisting magmatic vapor in H2O. Possible mechanisms for assimilation are: (1) forcible injection of brine into magma during bursting of overpressured pockets heated by new dikes, or (2) intrusion of magma into lenses or sills occupied by trapped brine.

  20. Brine and Gas Flow Patterns Between Excavated Areas and Disturbed Rock Zone in the 1996 Performance Assessment for the Waste Isolation Pilot Plant for a Single Drilling Intrusion that Penetrates Repository and Castile Brine Reservoir

    Energy Technology Data Exchange (ETDEWEB)

    ECONOMY,KATHLEEN M.; HELTON,JON CRAIG; VAUGHN,PALMER

    1999-10-01

    The Waste Isolation Pilot Plant (WIPP), which is located in southeastern New Mexico, is being developed for the geologic disposal of transuranic (TRU) waste by the U.S. Department of Energy (DOE). Waste disposal will take place in panels excavated in a bedded salt formation approximately 2000 ft (610 m) below the land surface. The BRAGFLO computer program which solves a system of nonlinear partial differential equations for two-phase flow, was used to investigate brine and gas flow patterns in the vicinity of the repository for the 1996 WIPP performance assessment (PA). The present study examines the implications of modeling assumptions used in conjunction with BRAGFLO in the 1996 WIPP PA that affect brine and gas flow patterns involving two waste regions in the repository (i.e., a single waste panel and the remaining nine waste panels), a disturbed rock zone (DRZ) that lies just above and below these two regions, and a borehole that penetrates the single waste panel and a brine pocket below this panel. The two waste regions are separated by a panel closure. The following insights were obtained from this study. First, the impediment to flow between the two waste regions provided by the panel closure model is reduced due to the permeable and areally extensive nature of the DRZ adopted in the 1996 WIPP PA, which results in the DRZ becoming an effective pathway for gas and brine movement around the panel closures and thus between the two waste regions. Brine and gas flow between the two waste regions via the DRZ causes pressures between the two to equilibrate rapidly, with the result that processes in the intruded waste panel are not isolated from the rest of the repository. Second, the connection between intruded and unintruded waste panels provided by the DRZ increases the time required for repository pressures to equilibrate with the overlying and/or underlying units subsequent to a drilling intrusion. Third, the large and areally extensive DRZ void volumes is a