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Sample records for large newfoundland families

  1. Pathways to rural family practice at Memorial University of Newfoundland.

    Science.gov (United States)

    Rourke, James; O'Keefe, Danielle; Ravalia, Mohamed; Moffatt, Scott; Parsons, Wanda; Duggan, Norah; Stringer, Katherine; Jong, Michael; Walsh, Kristin Harris; Hippe, Janelle

    2018-03-01

    To assess Memorial University of Newfoundland's (MUN's) commitment to a comprehensive pathways approach to rural family practice, and to determine the national and provincial effects of applying this approach. Analysis of anonymized secondary data. Canada. Memorial's medical degree (MD) graduates practising family medicine in Newfoundland and Labrador as of January 2015 (N = 305), MUN's 2011 and 2012 MD graduates (N = 120), and physicians who completed family medicine training programs in Canada between 2004 and 2013 and who were practising in Canada 2 years after completion of their postgraduate training (N = 8091). National effect was measured by the proportion of MUN's family medicine program graduates practising in rural Canada compared with those from other Canadian family medicine training programs. Provincial effect was measured by the location of MUN's MD graduates practising family medicine in Newfoundland and Labrador as of January 2015. Commitment to a comprehensive pathways approach to rural family practice was measured by anonymized geographic data on admissions, educational placements, and practice locations of MUN's 2011 and 2012 MD graduates, including those who completed family medicine residencies at MUN. Memorial's comprehensive pathways approach to training physicians for rural practice was successful on both national and provincial levels: 26.9% of MUN family medicine program graduates were in a rural practice location 2 years after exiting their post-MD training from 2004 to 2013 compared with the national rate of 13.3% (national effect); 305 of MUN's MD graduates were practising family medicine in Newfoundland and Labrador as of 2015, with 36% practising in rural areas (provincial effect). Of 114 MD students with known background who graduated in 2011 and 2012, 32% had rural backgrounds. Memorial's 2011 and 2012 MD graduates spent 20% of all clinical placement weeks in rural areas; of note, 90% of all first-year placements and 95% of

  2. A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs.

    Science.gov (United States)

    Stern, Joshua A; White, Stephen N; Lehmkuhl, Linda B; Reina-Doreste, Yamir; Ferguson, Jordan L; Nascone-Yoder, Nanette M; Meurs, Kathryn M

    2014-09-01

    Familial subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects in dogs and is an inherited defect of Newfoundlands, golden retrievers and human children. Although SAS is known to be inherited, specific genes involved in Newfoundlands with SAS have not been defined. We hypothesized that SAS in Newfoundlands is inherited in an autosomal dominant pattern and caused by a single genetic variant. We studied 93 prospectively recruited Newfoundland dogs, and 180 control dogs of 30 breeds. By providing cardiac screening evaluations for Newfoundlands we conducted a pedigree evaluation, genome-wide association study and RNA sequence analysis to identify a proposed pattern of inheritance and genetic loci associated with the development of SAS. We identified a three-nucleotide exonic insertion in phosphatidylinositol-binding clathrin assembly protein (PICALM) that is associated with the development of SAS in Newfoundlands. Pedigree evaluation best supported an autosomal dominant pattern of inheritance and provided evidence that equivocally affected individuals may pass on SAS in their progeny. Immunohistochemistry demonstrated the presence of PICALM in the canine myocardium and area of the subvalvular ridge. Additionally, small molecule inhibition of clathrin-mediated endocytosis resulted in developmental abnormalities within the outflow tract (OFT) of Xenopus laevis embryos. The ability to test for presence of this PICALM insertion may impact dog-breeding decisions and facilitate reduction of SAS disease prevalence in Newfoundland dogs. Understanding the role of PICALM in OFT development may aid in future molecular and genetic investigations into other congenital heart defects of various species.

  3. Newfoundland greenhome

    Energy Technology Data Exchange (ETDEWEB)

    Evans, J W [Univ. of Newfoundland, St. John' s; Mellin, R E

    1979-01-01

    The purpose of this project is to design, build, monitor and demonstrate an energy conserving, non-polluting, food-producing home appropriate to the climatic and environmental conditions of foggy east coast Newfoundland. The Newfoundland Greenhome is designed to serve as an experimental model for future residential building in an energy poor, land poor and food poor Newfoundland of the 1980's. The conditions which led to various design decisions are described. Special features of site, floor plan, energy conservation, renewable energy, ventilation, summer cooling, lighting, solid waste treatment, grey water treatment and food production are described.

  4. Does rural generalist focused medical school and family medicine training make a difference? Memorial University of Newfoundland outcomes.

    Science.gov (United States)

    Rourke, James; Asghari, Shabnam; Hurley, Oliver; Ravalia, Mohamed; Jong, Michael; Graham, Wendy; Parsons, Wanda; Duggan, Norah; O'Keefe, Danielle; Moffatt, Scott; Stringer, Katherine; Sturge Sparkes, Carolyn; Hippe, Janelle; Harris Walsh, Kristin; McKay, Donald; Samarasena, Asoka

    2018-03-01

    Rural recruitment and retention of physicians is a global issue. The Faculty of Medicine at Memorial University of Newfoundland, Canada, was established as a rural-focused medical school with a social accountability mandate that aimed to meet the healthcare needs of a sparse population distributed over a large landmass as well as the needs of other rural and remote areas of Canada. This study aimed to assess whether Memorial medical degree (MD) and postgraduate (PG) programs were effective at producing physicians for their province and rural physicians for Canada compared with other Canadian medical schools. This retrospective cohort study included medical school graduates who completed their PG training between 2004 and 2013 in Canada. Practice locations of study subjects were georeferenced and assigned to three geographic classes: Large Urban; Small City/Town; and Rural. Analyses were performed at two levels. (1) Provincial level analysis compared Memorial PG graduates practicing where they received their MD and/or PG training with other medical schools who are the only medical school in their province (n=4). (2) National-level analysis compared Memorial PG graduates practicing in rural Canada with all other Canadian medical schools (n=16). Descriptive and bivariate analyses were performed. Overall, 18 766 physicians practicing in Canada completed Canadian PG training (2004-2013), and of those, 8091 (43%) completed Family Medicine (FM) training. Of all physicians completing Canadian PG training, 1254 (7%) physicians were practicing rurally and of those, 1076 were family physicians. There were 379 Memorial PG graduates and of those, 208 (55%) completed FM training and 72 (19%) were practicing rurally, and of those practicing rurally, 56 were family physicians. At the national level, the percentage of all Memorial PG graduates (19.0%) and FM PG graduates (26.9%) practicing rurally was significantly better than the national average for PG (6.4%, p<0.000) and FM (12

  5. City mouse, country mouse: a mixed-methods evaluation of perceived communication barriers between rural family physicians and urban consultants in Newfoundland and Labrador, Canada.

    Science.gov (United States)

    Renouf, Tia; Alani, Sabrina; Whalen, Desmond; Harty, Chris; Pollard, Megan; Morrison, Megan; Coombs-Thorne, Heidi; Dubrowski, Adam

    2016-05-06

    To examine perceived communication barriers between urban consultants and rural family physicians practising routine and emergency care in remote subarctic Newfoundland and Labrador (NL). This study used a mixed-methods design. Quantitative and qualitative data were collected through exploratory surveys, comprised of closed and open-ended questions. The quantitative data was analysed using comparative statistical analyses, and a thematic analysis was applied to the qualitative data. 52 self-identified rural family physicians and 23 urban consultants were recruited via email. Rural participants were also recruited at the Family Medicine Rural Preceptor meetings in St John's, NL. Rural family physicians and urban consultants in NL completed a survey assessing perceived barriers to effective communication. Data confirmed that both groups perceived communication difficulties with one another; with 23.1% rural and 27.8% urban, rating the difficulties as frequent (p=0.935); 71.2% rural and 72.2% urban as sometimes (p=0.825); 5.8% rural and 0% urban acknowledged never perceiving difficulties (p=0.714). Overall, 87.1% of participants indicated that perceived communication difficulties impacted patient care. Primary trends that emerged as perceived barriers for rural physicians were time constraints and misunderstanding of site limitations. Urban consultants' perceived barriers were inadequate patient information and lack of native language skills. Barriers to effective communication are perceived between rural family physicians and urban consultants in NL. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  6. Fuelwood consumption in Newfoundland

    Energy Technology Data Exchange (ETDEWEB)

    1980-01-01

    This study was undertaken to get a first estimate of fuelwood consumption for the island of Newfoundland for the period April 1, 1977 to March 31, 1978. Available literature was reviewed and an assessment made on the existing data collection systems on fuelwood consumption used by the various forestry agencies in the province. A personal interview telephone survey on fuelwood use was conducted for most parts of the Island that had access to wood supplies. Householders were asked how much wood they burned, when they started burning wood, type of wood burning unit used, other sources of heat used, reasons for burning wood, employment, distance travelled to obtain wood, and expected consumption in 1978-79 compared to 1977-78. It was found that the estimated number of households burning wood increased to ca 32,000 in 1977-78. There was a further estimated increase to about 39,500 in 1978-79. In 1977-78, it was estimated that 461,571 stacked cubic metres of fuelwood were consumed on the Island. This was broken down into 318,916 m/sup 3/ of softwood and 142,655 m/sup 3/ of hardwood. Although the statistical methodology used may have led to an overestimate of the volume of wood consumed, the criteria used in the selection of households had the opposite effect in that the volume consumed by a large number of casual wood burners (less than 3 stacked m/sup 3/) was omitted from the estimate. Fuelwood consumption accounted for anywhere from 1% to 77% of the calculated allowable annual cut for the various forest management units on the Island for 1977-78. Overall, fuelwood consumption estimated by the survey accounted for 8% of the estimated allowable annual cut. Use of wood as a fuel is expected to continue increasing and it is recommended that estimates of consumption be periodically updated so that forest management plans can make adequate provision for this demand in future. 5 refs., 16 figs., 7 tabs.

  7. Fuelwood consumption in Newfoundland

    Energy Technology Data Exchange (ETDEWEB)

    1979-01-01

    Fuelwood consumption increased in Newfoundland in the 1970's, but although cutting permits were issued for Crown land, most forests were privately leased and no overall figures were available on the annual cut for domestic use. A personal interview telephone survey was therefore implemented in which householders were questioned on how much wood they burned, when they started burning wood, type of stove and wood used, expected consumption in 1978-79, other sources of heat, employment, and distance travelled to obtain wood. Survey methods and results obtained are presented. Woodburning households increased from about 22,000 before 1973 to about 32,000 in 1977-78 and a further increase to about 39,500 was expected in 1978-79. In 1977-78, 462,571 stacked cubic metres of roundwood were burned on the island. Softwood comprised 69% of this total.

  8. Association of total energy intake and macronutrient consumption with colorectal cancer risk: results from a large population-based case-control study in Newfoundland and Labrador and Ontario, Canada.

    Science.gov (United States)

    Sun, Zhuoyu; Liu, Lin; Wang, Peizhong Peter; Roebothan, Barbara; Zhao, Jin; Dicks, Elizabeth; Cotterchio, Michelle; Buehler, Sharon; Campbell, Peter T; McLaughlin, John R; Parfrey, Patrick S

    2012-03-26

    Diet is regarded as one of the most important environmental factors associated with colorectal cancer (CRC) risk. A recent report comprehensively concluded that total energy intake does not have a simple relationship with CRC risk, and that the data were inconsistent for carbohydrate, cholesterol and protein. The objective of this study was to identify the associations of CRC risk with dietary intakes of total energy, protein, fat, carbohydrate, fiber, and alcohol using data from a large case-control study conducted in Newfoundland and Labrador (NL) and Ontario (ON), Canada. Incident colorectal cancer cases (n = 1760) were identified from population-based cancer registries in the provinces of ON (1997-2000) and NL (1999-2003). Controls (n = 2481) were a random sample of residents in each province, aged 20-74 years. Family history questionnaire (FHQ), personal history questionnaire (PHQ), and food frequency questionnaire (FFQ) were used to collect study data. Logistic regression was used to evaluate the association of intakes of total energy, macronutrients and alcohol with CRC risk. Total energy intake was associated with higher risk of CRC (OR: 1.56; 95% CI: 1.21-2.01, p-trend = 0.02, 5th versus 1st quintile), whereas inverse associations emerged for intakes of protein (OR: 0.85, 95%CI: 0.69-1.00, p-trend = 0.06, 5th versus 1st quintile), carbohydrate (OR: 0.81, 95%CI: 0.63-1.00, p-trend = 0.05, 5th versus 1st quintile) and total dietary fiber (OR: 0.84, 95% CI:0.67-0.99, p-trend = 0.04, 5th versus 1st quintile). Total fat, alcohol, saturated fatty acids, monounsaturated fatty acids, polyunsaturated fatty acids, and cholesterol were not associated with CRC risk. This study provides further evidence that high energy intake may increase risk of incident CRC, whereas diets high in protein, fiber, and carbohydrate may reduce the risk of the disease.

  9. Association of total energy intake and macronutrient consumption with colorectal cancer risk: results from a large population-based case-control study in Newfoundland and Labrador and Ontario, Canada

    Directory of Open Access Journals (Sweden)

    Sun Zhuoyu

    2012-03-01

    Full Text Available Abstract Background Diet is regarded as one of the most important environmental factors associated with colorectal cancer (CRC risk. A recent report comprehensively concluded that total energy intake does not have a simple relationship with CRC risk, and that the data were inconsistent for carbohydrate, cholesterol and protein. The objective of this study was to identify the associations of CRC risk with dietary intakes of total energy, protein, fat, carbohydrate, fiber, and alcohol using data from a large case-control study conducted in Newfoundland and Labrador (NL and Ontario (ON, Canada. Methods Incident colorectal cancer cases (n = 1760 were identified from population-based cancer registries in the provinces of ON (1997-2000 and NL (1999-2003. Controls (n = 2481 were a random sample of residents in each province, aged 20-74 years. Family history questionnaire (FHQ, personal history questionnaire (PHQ, and food frequency questionnaire (FFQ were used to collect study data. Logistic regression was used to evaluate the association of intakes of total energy, macronutrients and alcohol with CRC risk. Results Total energy intake was associated with higher risk of CRC (OR: 1.56; 95% CI: 1.21-2.01, p-trend = 0.02, 5th versus 1st quintile, whereas inverse associations emerged for intakes of protein (OR: 0.85, 95%CI: 0.69-1.00, p-trend = 0.06, 5th versus 1st quintile, carbohydrate (OR: 0.81, 95%CI: 0.63-1.00, p-trend = 0.05, 5th versus 1st quintile and total dietary fiber (OR: 0.84, 95% CI:0.67-0.99, p-trend = 0.04, 5th versus 1st quintile. Total fat, alcohol, saturated fatty acids, monounsaturated fatty acids, polyunsaturated fatty acids, and cholesterol were not associated with CRC risk. Conclusion This study provides further evidence that high energy intake may increase risk of incident CRC, whereas diets high in protein, fiber, and carbohydrate may reduce the risk of the disease.

  10. Development application guidelines : Newfoundland offshore area

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1988-12-01

    The Canada-Newfoundland Offshore Petroleum Board has created a set of guidelines which describe the information needed by the Board to process a development application by a proponent of an offshore hydrocarbon development project. The guidelines also describe the review process that will be followed in considering a proponent`s application. Proponents must also refer to the Canada-Newfoundland Atlantic Accord Implementation Act and the Canada-Newfoundland Atlantic Accord Implementation (Newfoundland) Act. These guidelines also describe the requirements for the Canada-Newfoundland benefits plan, the environmental impact statement, the socio-economic impact statement, the safety plan, and the environmental protection plan.

  11. Phonetic Change in Newfoundland English

    Science.gov (United States)

    Clarke, Sandra

    2012-01-01

    Newfoundland English has long been considered autonomous within the North American context. Sociolinguistic studies conducted over the past three decades, however, typically suggest cross-generational change in phonetic feature use, motivated by greater alignment with mainland Canadian English norms. The present study uses data spanning the past…

  12. A retrospective study of surgically excised phaeochromocytomas in Newfoundland, Canada

    Directory of Open Access Journals (Sweden)

    Joanna Holland

    2014-01-01

    Full Text Available Objective: A retrospective study detailing the circumstances surrounding diagnosis and treatment of pheochromocytomas with the associated genetic disorders. Materials and Methods: All patients with surgically excised pheochromocytomas in the Health Sciences Center, St. John′s, Newfoundland, Canada between January 2001 and December 2010 were retrospectively analyzed to determine associated familial syndromes, age, tumor size, symptomatology, and percentage of paragangliomas and bilateral pheochromocytomas. Pathology specimen reports, adrenalectomy lists and Meditech (electronic medical record diagnostic codes provided a comprehensive database for this study. Results: Twenty-four patients were studied; familial disorder patients comprised 42% (10/24. Average age at diagnosis was 57 among the sporadic and 34 in familial disorder groups (P = 0.006. Average tumor size was 4.5 cm in the sporadic group and 3 cm in the familial disorder group (P = 0.19. All atypical cases including bilateral or extra-adrenal tumors and malignancy occurred in familial disorder patients. Conclusions: The proportion of familial disorder patients (42% was higher in this study than would be expected, likely a result of the relatively high incidence of hereditary autosomal dominant disorders within Newfoundland. Among familial disorder patients, the average younger age at diagnosis and the smaller tumor size suggest syndromic pheochromocytomas may develop earlier, however they are more likely to be diagnosed sooner due to biochemical surveillance testing in known genetic disorder patients. We also demonstrate a relatively high incidence of surgically resected pheochromocytomas of 4.679/million/year in Newfoundland.

  13. Coastal developments: A Newfoundland perspective

    International Nuclear Information System (INIS)

    Gosse, M.

    1991-01-01

    In the Province of Newfoundland, proposed coastal developments are typically scrutinized by both federal and provincial government departments. Depending on the proposed undertaking, the project may require environmental assessment and/or permitting of project activites. An overview is presented of the role played by provincial agencies in such assessments, with particular emphasis on the Department of Fisheries and Oceans. Examples are presented of the assessment role related to two projects: the Hibernia oil field development project, and the Arctic Delta Failure Experiment (EDFEX). Details of environmental considerations are given for gravity base structure construction for the Hibernia project in Placentia Bay and Bull Arm. The ADFEX is a project proposed by the federal Department of Energy, Mines and Resources, with the objective of observing the forces exerted by a submarine sediment slide for use in activities such as offshore risk assessment and subsea pipeline design. Of particular concern was use of underwater blasting during trout and salmon migration periods

  14. Tanker traffic off Newfoundland worries fishermen

    International Nuclear Information System (INIS)

    Reid, W.

    2002-01-01

    Tanker traffic offshore in Placentia Bay, Newfoundland has increased considerably, where approximately 300 tankers show up yearly to load up at the oil refinery located in the nearby village of Come By Chance. On numerous occasions, fishermen busy pulling gear over the gunwales looked up only to be faced with an approaching superstructure just emerging from the fog, leaving barely enough time for the fishermen to get out of the way. Fog does not help the situation, often reducing visibility to less than one kilometre approximately 187 days yearly. Fishermen are reluctant to avoid shipping lanes, as some of the best grounds are located in the vicinity. A few close calls and one accident were briefly described. Requests have been made for the pilots bringing large ships into dock to board farther out at sea to avoid the danger of collision. It was mentioned that another factor could be crew members on some ships unable to speak English. Fishermen are not happy that results from ship inspections are not posted on the Web as is the case in the United States. An environmentalist has also requested that an ocean-going-tug be used for towing tankers in trouble out of the way to prevent an ecological disaster

  15. Educational and School Psychology in Newfoundland and Labrador: A 15-Year Follow-Up

    Science.gov (United States)

    Joy, Rhonda; Paul, Heather; Adey, Keith; Wilmott, Angela; Harris, Gregory E.

    2016-01-01

    Educational psychology is an important profession in the Newfoundland and Labrador school system. Educational psychologists have core training in the areas of education and psychology and offer a variety of services to students, families, and teachers in the school system. This article builds on Martin's reflections by exploring the evolution of…

  16. The Holocene History of Placentia Bay, Newfoundland

    DEFF Research Database (Denmark)

    Sheldon, Christina; Seidenkrantz, Marit-Solveig; Reynisson, Njall

    2013-01-01

    Marine sediments analyzed from cores taken in Placentia Bay, Newfoundland, located in the Labrador Sea, captured oceanographic and climatic changes from the end of the Younger Dryas through the Holocene. Placentia Bay is an ideal site to capture changes in both the south-flowing Labrador Current ...

  17. Development Application - Terra Nova Development - Canada-Newfoundland Benefits Plan

    International Nuclear Information System (INIS)

    1996-01-01

    The Canada-Newfoundland Benefits Plan, part of the overall application to develop the Terra Nova Field off the coast of Newfoundland details the benefits to Canadians, but most particularly to residents of Newfoundland and Labrador that a vibrant petroleum industry is expected to bring. In this document the proponents commit themselves to a course of action designed to enhance the opportunities for Canadian and Newfoundland participation in the development, in accordance with the Atlantic Accord legislation. In terms of this legislation, the project proponents are obliged to perform development functions from Newfoundland, acquire goods and services for the Terra Nova Development on a 'best value' basis, but consistent with the procurement policies and procedures for benefits. The proponents must consider Canadian and, in particular, Newfoundland benefits as one of the factors in the procurement of goods and services, and require contactors and subcontractors to adhere to the development's benefits principles, objectives and commitments. A 7-page glossary is also included

  18. Neutrino bi-large mixings and family

    International Nuclear Information System (INIS)

    Bando, Masako; Obara, Midori

    2004-01-01

    After a brief review of quark-lepton relations in grand unified theories (GUT), we show that the Pati-Salam relation with only one type of Higgs field configuration with ''four zero symmetric texture'' can reproduce two large neutrino mixings as well as observed mass differences. This is quite in contrast to the case of SU(5) where bi-large mixings essentially come from the charged lepton sector with non-symmetric charged lepton mass matrix. (author)

  19. Privacy protection and public goods: building a genetic database for health research in Newfoundland and Labrador.

    Science.gov (United States)

    Kosseim, Patricia; Pullman, Daryl; Perrot-Daley, Astrid; Hodgkinson, Kathy; Street, Catherine; Rahman, Proton

    2013-01-01

    To provide a legal and ethical analysis of some of the implementation challenges faced by the Population Therapeutics Research Group (PTRG) at Memorial University (Canada), in using genealogical information offered by individuals for its genetics research database. This paper describes the unique historical and genetic characteristics of the Newfoundland and Labrador founder population, which gave rise to the opportunity for PTRG to build the Newfoundland Genealogy Database containing digitized records of all pre-confederation (1949) census records of the Newfoundland founder population. In addition to building the database, PTRG has developed the Heritability Analytics Infrastructure, a data management structure that stores genotype, phenotype, and pedigree information in a single database, and custom linkage software (KINNECT) to perform pedigree linkages on the genealogy database. A newly adopted legal regimen in Newfoundland and Labrador is discussed. It incorporates health privacy legislation with a unique research ethics statute governing the composition and activities of research ethics boards and, for the first time in Canada, elevating the status of national research ethics guidelines into law. The discussion looks at this integration of legal and ethical principles which provides a flexible and seamless framework for balancing the privacy rights and welfare interests of individuals, families, and larger societies in the creation and use of research data infrastructures as public goods. The complementary legal and ethical frameworks that now coexist in Newfoundland and Labrador provide the legislative authority, ethical legitimacy, and practical flexibility needed to find a workable balance between privacy interests and public goods. Such an approach may also be instructive for other jurisdictions as they seek to construct and use biobanks and related research platforms for genetic research.

  20. Privacy protection and public goods: building a genetic database for health research in Newfoundland and Labrador

    Science.gov (United States)

    Pullman, Daryl; Perrot-Daley, Astrid; Hodgkinson, Kathy; Street, Catherine; Rahman, Proton

    2013-01-01

    Objective To provide a legal and ethical analysis of some of the implementation challenges faced by the Population Therapeutics Research Group (PTRG) at Memorial University (Canada), in using genealogical information offered by individuals for its genetics research database. Materials and methods This paper describes the unique historical and genetic characteristics of the Newfoundland and Labrador founder population, which gave rise to the opportunity for PTRG to build the Newfoundland Genealogy Database containing digitized records of all pre-confederation (1949) census records of the Newfoundland founder population. In addition to building the database, PTRG has developed the Heritability Analytics Infrastructure, a data management structure that stores genotype, phenotype, and pedigree information in a single database, and custom linkage software (KINNECT) to perform pedigree linkages on the genealogy database. Discussion A newly adopted legal regimen in Newfoundland and Labrador is discussed. It incorporates health privacy legislation with a unique research ethics statute governing the composition and activities of research ethics boards and, for the first time in Canada, elevating the status of national research ethics guidelines into law. The discussion looks at this integration of legal and ethical principles which provides a flexible and seamless framework for balancing the privacy rights and welfare interests of individuals, families, and larger societies in the creation and use of research data infrastructures as public goods. Conclusion The complementary legal and ethical frameworks that now coexist in Newfoundland and Labrador provide the legislative authority, ethical legitimacy, and practical flexibility needed to find a workable balance between privacy interests and public goods. Such an approach may also be instructive for other jurisdictions as they seek to construct and use biobanks and related research platforms for genetic research. PMID

  1. Natural gas utilization study : offshore Newfoundland

    International Nuclear Information System (INIS)

    1998-10-01

    A study was conducted to quantify the natural gas resources of Newfoundland and to identify production and transportation options. The objective was to create a development strategy for natural gas which is growing in global importance as an energy source and as a feedstock for the downstream industry. The growth is driven by general economic expansion and the fact that natural gas is far less polluting than its main fossil fuel alternatives of oil and coal. New use is dominated by the power generation sector. The natural gas industry is also evolving rapidly as new reserves are established and pipelines are being constructed. Proven world reserves of natural gas now stand in excess of 5000 Tcf, 70 per cent of which is in the Russian Federation (CIS) and Middle East regions. Production and consumption, however, is dominated by the industrialized countries of North America and western Europe. This difference between markets and reserves has major implications including the need to develop cost effective long-distance transportation technologies and delivery systems or to relocate downstream industries closer to the reserves. In Newfoundland, the estimated reserves total 61.9 Tcf, including 8.2 Tcf of discovered reserves and 53.7 Tcf of undiscovered reserves. Of the discovered reserves, 4.2 Tcf is on the Labrador Shelf and 4.0 Tcf is in the the Jeanne d'Arc Basin on the Grand Banks. The Hibernia development could play a major role in the development of the natural gas resources of fields within a radius of 50 km around the platform. The general conclusion from the first phase of this study is that Newfoundland's natural gas resources are valuable and potentially capable of supporting significant industrial activities. The undiscovered potential holds significant promise for both the Newfoundland offshore and onshore areas. Phase Two of the study will deal with the development and implementation of a Strategic Plan for Newfoundland's natural gas resources. A series of

  2. Developing a Physician Management & Leadership Program (PMLP) in Newfoundland and Labrador.

    Science.gov (United States)

    Maddalena, Victor; Fleet, Lisa

    2015-01-01

    This article aims to document the process the province of Newfoundland and Labrador used to develop an innovative Physician Management and Leadership Program (PMLP). The PMLP is a collaborative initiative among Memorial University (Faculty of Medicine and Faculty of Business), the Government of Newfoundland and Labrador, and the Regional Health Authorities. As challenges facing health-care systems become more complex there is a growing need for management and leadership training for physicians. Memorial University Faculty of Medicine and the Gardiner Centre in the Faculty of Business in partnership with Regional Health Authorities and the Government of Newfoundland and Labrador identified the need for a leadership and management education program for physician leaders. A provincial needs assessment of physician leaders was conducted to identify educational needs to fill this identified gap. A Steering Committee was formed to guide the design and implementation and monitor delivery of the 10 module Physician Management and Leadership Program (PMLP). Designing management and leadership education programs to serve physicians who practice in a large, predominately rural geographic area can be challenging and requires efficient use of available resources and technology. While there are many physician management and leadership programs available in Canada and abroad, the PMLP was designed to meet the specific educational needs of physician leaders in Newfoundland and Labrador.

  3. Allozyme variation in Picea mariana from Newfoundland: Discussion

    Science.gov (United States)

    William B. Critchfield

    1987-01-01

    In their recent paper describing the distribution of genetic variation in black spruce (Picea mariana (Mill.) B.S.P.) on the island of Newfoundland, Yeh et el. (1986) concluded that a center of variability in west-central Newfoundland derived from ancestral populations that persisted on the island during the last (Wisconsin) glaciation. They...

  4. Little Brother Joins the Large Family

    Science.gov (United States)

    2006-12-01

    On the night of 15 December 2006, the fourth and last-to-be-installed VLTI Auxiliary Telescope (AT4) obtained its 'First Light'. The first images demonstrate that AT4 will be able to deliver the excellent image quality already delivered by the first three ATs. It will soon join its siblings to perform routinely interferometric measurements. ESO PR Photo 51a/06 ESO PR Photo 51a/06 VLT Auxiliary Telescope The VLT is composed of four 8.2-m Unit Telescope (Antu, Kueyen, Melipal and Yepun). They have been progressively put into service together with a vast suite of the most advanced astronomical instruments and are operated every night in the year. Contrary to other large astronomical telescopes, the VLT was designed from the beginning with the use of interferometry as a major goal. The VLT Interferometer (VLTI) combines starlight captured by two or three 8.2- VLT Unit Telescopes, dramatically increasing the spatial resolution and showing fine details of a large variety of celestial objects. ESO PR Photo 51b/06 ESO PR Photo 51b/06 One AT Under the Sky However, most of the time the large telescopes are used for other research purposes. They are therefore only available for interferometric observations during a limited number of nights every year. Thus, in order to exploit the VLTI each night and to achieve the full potential of this unique setup, some other (smaller), dedicated telescopes were included into the overall VLT concept. These telescopes, known as the VLTI Auxiliary Telescopes (ATs), are mounted on tracks and can be placed at precisely defined "parking" observing positions on the observatory platform. From these positions, their light beams are fed into the same common focal point via a complex system of reflecting mirrors mounted in an underground system of tunnels. The Auxiliary Telescopes are real technological jewels. They are placed in ultra-compact enclosures, complete with all necessary electronics, an air conditioning system and cooling liquid for

  5. L'Anse Aux Meadows, Newfoundland

    Science.gov (United States)

    2008-01-01

    L'Anse aux Meadows is a site on the northernmost tip of the island of Newfoundland, located in the Province of Newfoundland and Labrador, Canada, where the remains of a Viking village were discovered in 1960 by the Norwegians Helge and Anne Ingstad. The only authenticated Viking settlement in North America outside Greenland, it was the site of a multi-year archaeological dig that found dwellings, tools and implements that verified its time frame. The settlement, dating more than five hundred years before Christopher Columbus, contains the earliest European structures in North America. Named a World Heritage site by UNESCO, it is thought by many to be the semi-legendary 'Vinland' settlement of explorer Leif Ericson around AD 1000. The settlement at L'Anse aux Meadows consisted of at least eight buildings, including a forge and smelter, and a lumber yard that supported a shipyard. The largest house measured 28.8 by 15.6 m and consisted of several rooms. Sewing and knitting tools found at the site indicate women were present at L'Anse aux Meadows The image was acquired on September 14, 2007, covers an area of 14.2 x 14.6 km, and is located at 51.5 degrees north latitude, 55.6 degrees west longitude. The U.S. science team is located at NASA's Jet Propulsion Laboratory, Pasadena, Calif. The Terra mission is part of NASA's Science Mission Directorate.

  6. Forecasting severe ice storms using numerical weather prediction: the March 2010 Newfoundland event

    OpenAIRE

    J. Hosek; P. Musilek; E. Lozowski; P. Pytlak

    2011-01-01

    The northeast coast of North America is frequently hit by severe ice storms. These freezing rain events can produce large ice accretions that damage structures, frequently power transmission and distribution infrastructure. For this reason, it is highly desirable to model and forecast such icing events, so that the consequent damages can be prevented or mitigated. The case study presented in this paper focuses on the March 2010 ice storm event that took place in eastern Newfoundland. We apply...

  7. ODP Leg 210 Drills the Newfoundland Margin in the Newfoundland-Iberia Non-Volcanic Rift

    Science.gov (United States)

    Tucholke, B. E.; Sibuet, J.

    2003-12-01

    The final leg of the Ocean Drilling Project (Leg 210, July-September 2003) was devoted to studying the history of rifting and post-rift sedimentation in the Newfoundland-Iberia rift. For the first time, drilling was conducted in the Newfoundland Basin along a transect conjugate to previous drill sites on the Iberia margin (Legs 149 and 173) to obtain data on a complete `non-volcanic' rift system. The prime site during this leg (Site 1276) was drilled in the transition zone between known continental crust and known oceanic crust at chrons M3 and younger. Extensive geophysical work and deep-sea drilling have shown that this transition-zone crust on the conjugate Iberia margin is exhumed continental mantle that is strongly serpentinized in its upper part. Transition-zone crust on the Newfoundland side, however, is typically a kilometer or more shallower and has much smoother topography, and seismic refraction data suggest that the crust may be thin (about 4 km) oceanic crust. A major goal of Site 1276 was to investigate these differences by sampling basement and a strong, basinwide reflection (U) overlying basement. Site 1276 was cored from 800 to 1737 m below seafloor with excellent recovery (avg. 85%), bottoming in two alkaline diabase sills >10 m thick that are estimated to be 100-200 meters above basement. The sills have sedimentary contacts that show extensive hydrothermal metamorphism. Associated sediment structural features indicate that the sills were intruded at shallow levels within highly porous sediments. The upper sill likely is at the level of the U reflection, which correlates with lower Albian - uppermost Aptian(?) fine- to coarse-grained gravity-flow deposits. Overlying lower Albian to lower Oligocene sediments record paleoceanographic conditions similar to those on the Iberia margin and in the main North Atlantic basin, including deposition of `black shales'; however, they show an extensive component of gravity-flow deposits throughout.

  8. Morphological change in Newfoundland caribou: Effects of abundance and climate

    Directory of Open Access Journals (Sweden)

    Shane P. Mahoney

    2011-04-01

    Full Text Available The demographic and environmental influences on large mammal morphology are central questions in ecology. We investigated the effects of population abundance and climate on body size and number of male antler points for the La Poile and Middle Ridge caribou (Rangifer tarandus, L. 1758 herds, Newfoundland, Canada. Across 40 years and 20-fold changes in abundance, adult males and females exhibited diminished stature as indicated by jawbone size (diastema and total mandible length and the number of antler points at the time of harvest. Associations between jawbone size and population abundance at birth were consistently negative for both herds, both sexes, and all age classes. Large-scale climate patterns, as measured by the North Atlantic Oscillation in the winter prior to birth, were also negatively associated with jawbone size. Declines in male antler size, as measured by the number of antler points, were not well predicted by either abundance or climate, suggesting other factors (e.g., current, rather than latent, foraging conditions may be involved. We conclude that these morphological changes indicate competition for food resources.

  9. The Newfoundland oil spill burn experiment

    International Nuclear Information System (INIS)

    Fingas, M.

    1992-01-01

    A major offshore oil-spill combustion experiment is being planned for waters off Newfoundland. The experiment is designed to answer outstanding questions on the acceptability of in-situ oil spill burning. In the experiment, variables will be controlled to allow quantitative measurement of the scientific and operational parameters that will enhance understanding of in-situ combustion as an operational oil-spill response technique. The proposed full-scale tests follow six years of testing in laboratory tanks. Analyses have shown that the high temperatures reached during efficient in-situ combustion result in relatively complete destruction of the oil. Tests have shown that the most important factor in this regard is that the oil must be thickened sufficiently before effective burning will occur. Such thickening is potentially possible in the offshore, under suitable wind and sea conditions, using fireproof containment booms. The experiment will involve measurement of emissions to the air, levels of oil in water, and operational parameters of in-situ burning. Time and location of the experiment are chosen to minimize ecological damage and for operational reasons. When suitable conditions are present in early August 1993, two 45-m 3 batches of crude oil will be released into a containment boom and ignited. The burn residue will be recovered mechanically, and a secondary containment and recovery system will be towed behind the fireproof boom to pick up any fugitive oil or residue. 3 figs., 6 tabs

  10. Aromatic hydrocarbon concentrations in sediments of Placentia Bay, Newfoundland

    International Nuclear Information System (INIS)

    Kiceniuk, J.W.

    1992-01-01

    A study was conducted to examine the potential for contamination of recent sediments with polycyclic aromatic hydrocarbons due to tanker and refinery activity in Placentia Bay, Newfoundland, an area without large local anthropogenic sources of aromatics. Sediment samples were taken from the vicinity of the Come By Chance refinery, Woody Island, Wild Cove, and Port Royal Arm, all in the north end of the bay. The samples were extracted by two methods, dichloromethane extraction of dried sediment for determination of total aromatic hydrocarbon content and hexane extraction of wet sediment for estimation of the bioavailability of hydrocarbons and determination of more volatile compounds. Class analysis of aromatic hydrocarbons was conducted on a NH 2 column with detection at 255 nm. Total concentrations of di-tricyclic aromatics were highest at the Woody Island site (0.6 μg/g). The sediments from the Come By Chance site, Wild Cove, and Port Royal Arm sediments contained 0.3, 0.1, and 0.2 μg/g respectively. The hexane extracts from Come By Chance were lowest in di-tricyclic aromatics (0.007 μg/g), with the other sites being equal in concentration (0.01 μg/g). It is evident from the study that aromatic hydrocarbon concentrations in Placentia Bay are elevated in some parts of the bay in the absence of local combustion sources, and that the most likely source is petroleum. 12 refs., 5 figs., 2 tabs

  11. Western Newfoundland and Labrador offshore area strategic environmental assessment amendment

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2007-11-15

    The Canada-Newfoundland and Labrador Offshore Petroleum Board issued a call for bids in May 2007 that included a piece of land in offshore western Newfoundland. This report presented an amendment to the 2005 western Newfoundland and Labrador offshore strategic environmental assessment (SEA) in order to extend the coverage of the previous piece of land and included additional lands southwest of the original SEA prepared in 2005. This report presented the objectives and purpose of the SEA amendment and the history of oil and gas activities in western Newfoundland and Labrador offshore area. It discussed the biological environment in terms of plankton; benthic invertebrates; fish and fisheries; marine-associated birds; marine mammals and sea turtles; species at risk; and potentially sensitive areas. Environmental effects of exploration and production activities were discussed in terms of sound; routine exploratory/delineation drilling and production activities; accidental events; and cumulative effects. Last, the report presented the conclusions including potential issues, data gaps, and planning considerations. It was concluded that petroleum exploration activity generally can proceed in the amendment area with the application of standard mitigation measures currently applied to offshore exploratory activities elsewhere in the Newfoundland offshore. 90 refs., 8 tabs., 18 figs., 1 appendix.

  12. Western Newfoundland and Labrador offshore area strategic environmental assessment amendment

    International Nuclear Information System (INIS)

    2007-11-01

    The Canada-Newfoundland and Labrador Offshore Petroleum Board issued a call for bids in May 2007 that included a piece of land in offshore western Newfoundland. This report presented an amendment to the 2005 western Newfoundland and Labrador offshore strategic environmental assessment (SEA) in order to extend the coverage of the previous piece of land and included additional lands southwest of the original SEA prepared in 2005. This report presented the objectives and purpose of the SEA amendment and the history of oil and gas activities in western Newfoundland and Labrador offshore area. It discussed the biological environment in terms of plankton; benthic invertebrates; fish and fisheries; marine-associated birds; marine mammals and sea turtles; species at risk; and potentially sensitive areas. Environmental effects of exploration and production activities were discussed in terms of sound; routine exploratory/delineation drilling and production activities; accidental events; and cumulative effects. Last, the report presented the conclusions including potential issues, data gaps, and planning considerations. It was concluded that petroleum exploration activity generally can proceed in the amendment area with the application of standard mitigation measures currently applied to offshore exploratory activities elsewhere in the Newfoundland offshore. 90 refs., 8 tabs., 18 figs., 1 appendix

  13. New Sequences with Low Correlation and Large Family Size

    Science.gov (United States)

    Zeng, Fanxin

    In direct-sequence code-division multiple-access (DS-CDMA) communication systems and direct-sequence ultra wideband (DS-UWB) radios, sequences with low correlation and large family size are important for reducing multiple access interference (MAI) and accepting more active users, respectively. In this paper, a new collection of families of sequences of length pn-1, which includes three constructions, is proposed. The maximum number of cyclically distinct families without GMW sequences in each construction is φ(pn-1)/n·φ(pm-1)/m, where p is a prime number, n is an even number, and n=2m, and these sequences can be binary or polyphase depending upon choice of the parameter p. In Construction I, there are pn distinct sequences within each family and the new sequences have at most d+2 nontrivial periodic correlation {-pm-1, -1, pm-1, 2pm-1,…,dpm-1}. In Construction II, the new sequences have large family size p2n and possibly take the nontrivial correlation values in {-pm-1, -1, pm-1, 2pm-1,…,(3d-4)pm-1}. In Construction III, the new sequences possess the largest family size p(d-1)n and have at most 2d correlation levels {-pm-1, -1,pm-1, 2pm-1,…,(2d-2)pm-1}. Three constructions are near-optimal with respect to the Welch bound because the values of their Welch-Ratios are moderate, WR_??_d, WR_??_3d-4 and WR_??_2d-2, respectively. Each family in Constructions I, II and III contains a GMW sequence. In addition, Helleseth sequences and Niho sequences are special cases in Constructions I and III, and their restriction conditions to the integers m and n, pm≠2 (mod 3) and n≅0 (mod 4), respectively, are removed in our sequences. Our sequences in Construction III include the sequences with Niho type decimation 3·2m-2, too. Finally, some open questions are pointed out and an example that illustrates the performance of these sequences is given.

  14. Historical analysis of Newfoundland dog fur colour genetics

    Directory of Open Access Journals (Sweden)

    J. Bondeson

    2015-06-01

    Full Text Available This article makes use of digitized historic newspapers to analyze Newfoundland dog fur colour genetics, and fur colour variations over time. The results indicate that contrary to the accepted view, the ‘Solid’ gene was introduced into the British population of Newfoundland dogs in the 1840s. Prior to that time, the dogs were white and black (Landseer or white and brown, and thus spotted/spotted homozygotes. Due to ‘Solid’ being dominant over ‘spotted’, and selective breeding, today the majority of Newfoundland dogs are solid black. Whereas small white marks on the chest and/or paw appears to be a random event, the historical data supports the existence of an ‘Irish spotted’ fur colour pattern, with white head blaze, breast, paws and tail tip, in spotted/spotted homozygotes.

  15. Emergency response in the Newfoundland offshore industry

    International Nuclear Information System (INIS)

    Dempsey, J.

    2006-01-01

    This presentation reviewed current offshore oil activities with respect to safety issues regarding year-round marine operations in a harsh environment. Considerable logistics support is required for all offshore activities, including seismic and geotechnical surveys; exploration and production drilling; well testing; subsea construction; on-site production; and, delivery to market. Response to an offshore emergency must address the urgency of the incident along with stakeholder concerns. This presentation described the different types of emergencies and addressed issues regarding contingency planning; preventative measures; response philosophy; response scope; response at site; emergency management; communications links; and, oil spill response. The following current operations were highlighted: ExxonMobil's production drilling from the gravity-based concrete platform at Hibernia; Petro-Canada's production drilling at the Terra Nova FPSO; Husky Energy's production drilling at White Rose; and Chevron Canada's exploration drilling at the Orphan Basin. It was noted that in an emergency situation, the focus is on the welfare of offshore personnel. On an average day, the total offshore population is in the order of 1000 workers, all registered in the Personnel Logistics System which is updated with the departure of every helicopter from St. John's, Newfoundland or from the offshore platform. It is possible to prepare for foreseeable emergency incidents such as fire, explosion or gas leaks; spills to the marine environment; structural damage or collisions; persons lost at sea; helicopter or support vessel accidents; vessel sinking; sabotage; serious injuries or loss of life; severe ice events; and, loss of well control. The establishment of permanent safety zones at the Hibernia, White Rose and Terra Nova production fields are among the preventative measures, along with standby vessels that provide a rescue service for offshore installations. Supply vessels are also

  16. Airfoil family design for large offshore wind turbine blades

    International Nuclear Information System (INIS)

    Méndez, B; Munduate, X; Miguel, U San

    2014-01-01

    Wind turbine blades size has scaled-up during last years due to wind turbine platform increase especially for offshore applications. The EOLIA project 2007-2010 (Spanish Goverment funded project) was focused on the design of large offshore wind turbines for deep waters. The project was managed by ACCIONA Energia and the wind turbine technology was designed by ACCIONA Windpower. The project included the design of a wind turbine airfoil family especially conceived for large offshore wind turbine blades, in the order of 5MW machine. Large offshore wind turbines suffer high extreme loads due to their size, in addition the lack of noise restrictions allow higher tip speeds. Consequently, the airfoils presented in this work are designed for high Reynolds numbers with the main goal of reducing blade loads and mantainig power production. The new airfoil family was designed in collaboration with CENER (Spanish National Renewable Energy Centre). The airfoil family was designed using a evolutionary algorithm based optimization tool with different objectives, both aerodynamic and structural, coupled with an airfoil geometry generation tool. Force coefficients of the designed airfoil were obtained using the panel code XFOIL in which the boundary layer/inviscid flow coupling is ineracted via surface transpiration model. The desing methodology includes a novel technique to define the objective functions based on normalizing the functions using weight parameters created from data of airfoils used as reference. Four airfoils have been designed, here three of them will be presented, with relative thickness of 18%, 21%, 25%, which have been verified with the in-house CFD code, Wind Multi Block WMB, and later validated with wind tunnel experiments. Some of the objectives for the designed airfoils concern the aerodynamic behavior (high efficiency and lift, high tangential coefficient, insensitivity to rough conditions, etc.), others concern the geometry (good for structural design

  17. Airfoil family design for large offshore wind turbine blades

    Science.gov (United States)

    Méndez, B.; Munduate, X.; San Miguel, U.

    2014-06-01

    Wind turbine blades size has scaled-up during last years due to wind turbine platform increase especially for offshore applications. The EOLIA project 2007-2010 (Spanish Goverment funded project) was focused on the design of large offshore wind turbines for deep waters. The project was managed by ACCIONA Energia and the wind turbine technology was designed by ACCIONA Windpower. The project included the design of a wind turbine airfoil family especially conceived for large offshore wind turbine blades, in the order of 5MW machine. Large offshore wind turbines suffer high extreme loads due to their size, in addition the lack of noise restrictions allow higher tip speeds. Consequently, the airfoils presented in this work are designed for high Reynolds numbers with the main goal of reducing blade loads and mantainig power production. The new airfoil family was designed in collaboration with CENER (Spanish National Renewable Energy Centre). The airfoil family was designed using a evolutionary algorithm based optimization tool with different objectives, both aerodynamic and structural, coupled with an airfoil geometry generation tool. Force coefficients of the designed airfoil were obtained using the panel code XFOIL in which the boundary layer/inviscid flow coupling is ineracted via surface transpiration model. The desing methodology includes a novel technique to define the objective functions based on normalizing the functions using weight parameters created from data of airfoils used as reference. Four airfoils have been designed, here three of them will be presented, with relative thickness of 18%, 21%, 25%, which have been verified with the in-house CFD code, Wind Multi Block WMB, and later validated with wind tunnel experiments. Some of the objectives for the designed airfoils concern the aerodynamic behavior (high efficiency and lift, high tangential coefficient, insensitivity to rough conditions, etc.), others concern the geometry (good for structural design

  18. The offshore accords and Hibernia's impact on the Newfoundland treasury

    International Nuclear Information System (INIS)

    Locke, W.

    1992-01-01

    The provincial governments of Newfoundland and Nova Scotia have each signed an accord with the government of Canada to manage and share revenues from the development of their respective offshore oil and gas fields. Negotiated provisions for offsetting equalization payments were an important component of each of these accords. The potential effectiveness of these provisions in sheltering offshore oil revenues derived from the Hibernia project under various oil price scenarios is reviewed. Both mathematical and simulation analyses demonstrate that the provisions negotiated by Nova Scotia shelter significantly more revenue than those by Newfoundland. Recommendations for future negotiating positions are presented. 4 refs., 3 tabs

  19. Holocene oceanographic changes in SW Labrador Sea, off Newfoundland

    DEFF Research Database (Denmark)

    Sheldon, Christina; Seidenkrantz, Marit-Solveig; Pearce, Christof

    2016-01-01

    Benthic foraminiferal assemblages supported by selected geochemical data from three marine sediment cores collected in Placentia Bay, SE Newfoundland, are used to construct an ~13,000-year-long record of regional oceanographic changes in the SW Labrador Sea. The area is located in the boundary zo....... The Northern Hemisphere neoglacial cooling around 2.8 cal. kyr BP was characterized off SE Newfoundland by a further stabilization of the current system, dominated by the LC with some continued influx of GS water....

  20. Historical analysis of Newfoundland dog fur colour genetics

    OpenAIRE

    Bondeson, J.

    2015-01-01

    This article makes use of digitized historic newspapers to analyze Newfoundland dog fur colour genetics, and fur colour variations over time. The results indicate that contrary to the accepted view, the ‘Solid’ gene was introduced into the British population of Newfoundland dogs in the 1840s. Prior to that time, the dogs were white and black (Landseer) or white and brown, and thus spotted/spotted homozygotes. Due to ‘Solid’ being dominant over ‘spotted’, and selective breeding, today the majo...

  1. Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

    Directory of Open Access Journals (Sweden)

    Ranji Chibbar

    2010-01-01

    Full Text Available A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been evaluated. The proband, now 23 years of age, has mild disease; the other 11 documented affected family members all died from their disease at an average age of 37 years (range 25 to 50 years. The pathology was that of usual interstitial pneumonia, as is typical in idiopathic pulmonary fibrosis. However, the initial radiographic pattern in many of these individuals was upper lobe and nodular and, along with the young age, was atypical for idiopathic pulmonary fibrosis. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATP-binding cassette protein A3 and telomerase, and found no abnormalities.

  2. Emergency response in the Newfoundland offshore industry

    Energy Technology Data Exchange (ETDEWEB)

    Dempsey, J. [Cormorant Ltd., St. John' s, NL (Canada)

    2006-07-01

    This presentation reviewed current offshore oil activities with respect to safety issues regarding year-round marine operations in a harsh environment. Considerable logistics support is required for all offshore activities, including seismic and geotechnical surveys; exploration and production drilling; well testing; subsea construction; on-site production; and, delivery to market. Response to an offshore emergency must address the urgency of the incident along with stakeholder concerns. This presentation described the different types of emergencies and addressed issues regarding contingency planning; preventative measures; response philosophy; response scope; response at site; emergency management; communications links; and, oil spill response. The following current operations were highlighted: ExxonMobil's production drilling from the gravity-based concrete platform at Hibernia; Petro-Canada's production drilling at the Terra Nova FPSO; Husky Energy's production drilling at White Rose; and Chevron Canada's exploration drilling at the Orphan Basin. It was noted that in an emergency situation, the focus is on the welfare of offshore personnel. On an average day, the total offshore population is in the order of 1000 workers, all registered in the Personnel Logistics System which is updated with the departure of every helicopter from St. John's, Newfoundland or from the offshore platform. It is possible to prepare for foreseeable emergency incidents such as fire, explosion or gas leaks; spills to the marine environment; structural damage or collisions; persons lost at sea; helicopter or support vessel accidents; vessel sinking; sabotage; serious injuries or loss of life; severe ice events; and, loss of well control. The establishment of permanent safety zones at the Hibernia, White Rose and Terra Nova production fields are among the preventative measures, along with standby vessels that provide a rescue service for offshore installations

  3. Historical analysis of Newfoundland dog fur colour genetics ...

    African Journals Online (AJOL)

    Whereas small white marks on the chest and/or paw appears to be a random event, the historical data supports the existence of an 'Irish spotted' fur colour pattern, with white head blaze, breast, paws and tail tip, in spotted/spotted homozygotes. Keywords: Fur colour genetics, Irish spotting, Landseer Newfoundland, MITF, ...

  4. The Hegemonic Curriculum and School Dropout: The Newfoundland Case.

    Science.gov (United States)

    Gedge, Joseph L.

    1991-01-01

    Confronted by a disturbing dropout rate and low student achievement, the Newfoundland (Canada) government is attempting to rationalize organizational restructuring and curriculum reform based on a centralized core academic curriculum aimed at college entrance. This article argues for an expanded, hegemonic curriculum that is organic to the…

  5. Genetic evidence of subaortic stenosis in the Newfoundland dog.

    Science.gov (United States)

    Reist-Marti, S B; Dolf, G; Leeb, T; Kottmann, S; Kietzmann, S; Butenhoff, K; Rieder, S

    2012-06-09

    Subaortic stenosis (SAS) is a cardiac disorder with a narrowing of the descending aorta below the left ventricular outflow tract of the heart. It occurs in several species and breeds. The Newfoundland is one of the dog breeds where it is more common and usually leads to death at early adulthood. It is still discussed to which extent SAS has a genetic background and what its mode of inheritance could be. Extensive pedigree data comprising more than 230,000 Newfoundland dogs from the European and North American population reaching back to the 19th century including 6023 dogs with a SAS diagnosis were analysed for genetic factors influencing SAS affection. The incidence and prevalence of SAS in the analysed Newfoundland population sample were much higher than those reported in previous studies on smaller population samples. Assuming that some SAS-affected dogs remained undiscovered or were not reported, these figures may even be underestimated. SAS-affected Newfoundland dogs were more often inbred and closer related to each other than unaffected dogs, which is an indicator for a genetic background of SAS. The sex had no significant impact on SAS affectedness, pointing at an autosomal inheritance. The only simple mode of inheritance that fitted the data well was autosomal codominant with lethal homozygosity and a penetrance of 1/3 in the heterozygotes.

  6. The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

    DEFF Research Database (Denmark)

    Milting, Hendrik; Klauke, Bärbel; Christensen, Alex Hoerby

    2014-01-01

    atomic force microscopy and revealed that the cell nuclei exhibit an increased stiffness compared with TMEM43 wild-type controls. CONCLUSION: The German family is not affected by a de novo TMEM43 mutation. It is therefore expected that an unknown number of European families may be affected by the TMEM43...... without mutations in desmosomal genes and identified the TMEM43-p.S358L mutation in a German ARVC family. We excluded TMEM43-p.S358L in 22 unrelated patients with dilated cardiomyopathy. The German family shares a common haplotype with those from Newfoundland, USA, and Denmark, suggesting...... that the mutation originated from a common founder. Examination of 40 control chromosomes revealed an estimated age of 1300-1500 years for the mutation, which proves the European origin of the Newfoundland mutation. Skin fibroblasts from a female and two male mutation carriers were analysed in cell culture using...

  7. The Newfoundland in-situ Oil Burn Experiment - NOBE

    International Nuclear Information System (INIS)

    Fingas, M.; Li, K.; Ackerman, F.; Bissonnette, M.C.; Lambert, P.; Halley, G.; Nelson, R.; Belanger, J.; Pare, J.R.P.; Campagna, P.R.

    1993-01-01

    A group of over 25 Canadian and US agencies conducted a major offshore oil spill burn near Newfoundland. Over 20 vesels, 7 aircraft, and 230 people were involved in this test, the largest of its kind ever conducted. The burn involved release of two oil spills of ca 50 tons each into a towed fireproof boom. Each burn lasted over an hour. The burn plume was sampled using remote-controlled helicopters and a blimp, and air emissions were monitored downwind from remote controlled boats which also took water samples and temperatures. Over 200 sensors or samplers were used; these will yield data on over 2,000 parameters or substances. Preliminary results are reported. Burning occurred outside the boom due to some initial oil splashover, but this did not result in sheening or significant oil loss. The scaling of burns from test tanks to on-sea burns did not always hold true. Quantitative analytical data showed that emissions from this in-situ fire were less than expected; all measured compounds and parameters were below health concern levels beyond ca 150 m from the fire and very little was detected beyond 500 m. Polycyclic aromatic hydrocarbons (PAH) were found to be lower in the soot than in the starting oil and were consumed by the fire to a large degree. Particulates were found to be of concern only up to 150 m downwind at sea level. Combustion gases did not reach levels of concern and volatile organics were in high concentrations but less than those emitted from a non-burning spill. No compounds of concern could be detected in the water samples. Burn residue samples had lower PAH levels than the starting oil. Generally, burning oil spills at sea was found to be feasible and practical. 2 refs., 9 figs., 3 tabs

  8. Released geophysical and geological reports : Newfoundland offshore area September 2003

    International Nuclear Information System (INIS)

    2003-09-01

    This two-part publication contains a list of geophysical and geological data acquired by the Canada-Newfoundland Offshore Petroleum Board (C-NOPB). It is made available to the public in accordance with a subsection of the Canada-Newfoundland Atlantic Accord Implementation Act which states that such data can be released five years after the date of completion of a program. The programs for which the data has been released are listed in chronological order by completion date. A list of wells drilled within the C-NOPB's jurisdictional area is also included along with a map showing the area of jurisdiction. The well data includes category 1 information from exploratory wells, delineation wells, and development wells. It includes factual data obtained directly from well drilling which must be made available for public examination 2 years after well completion. Category 1 data refers to drill cuttings, well fluid samples, open-hole logs, formation stimulation data, petroleum analyses, drill mud reports, and well site survey information. The interpretive geological and geophysical reports are based on industry data from exploratory programs conducted in the Newfoundland offshore area. They include information from synthetic seismograms, velocity surveys, vertical seismic profiles, petrological reports, geochemical reports, and cyberlook logs. The jurisdictional areas include Western Newfoundland, South Grand Banks, North Grand Banks, the Northeast Newfoundland Shelf, and the Labrador Shelf. Program numbers are coded to contain the geographic region to which the program relates, the type of proposed geophysical or geological work, the company operating the program, and the sequential number of that type of program operated by each company. 8 tabs

  9. The Perceptions and Views on Family Interaction and Relationships of Middle Children from Large Families: An Informal Mini Survey.

    Science.gov (United States)

    Hall, Elena C. Thomas

    In Adler's Theory of Individual Psychology the significance of birth order position in the family constellation depends on the interpretation given to it by the child, which in turn influences his character. This study surveyed the perceptions of middle children in large families. Subjects (N=13) were middle children in families of more than five…

  10. Pickled meat consumption and colorectal cancer (CRC): a case-control study in Newfoundland and Labrador, Canada.

    Science.gov (United States)

    Squires, Josh; Roebothan, Barbara; Buehler, Sharon; Sun, Zhuoyu; Cotterchio, Michelle; Younghusband, Ban; Dicks, Elizabeth; Mclaughlin, John R; Parfrey, Patrick S; Wang, Peizhong Peter

    2010-09-01

    Although a large body of epidemiological research suggests that red meat intake increases the risk of colorectal cancer, little is known regarding how such an association varies across populations and types of red meat. The objective of this study was to assess whether an association exists between the intakes of total red meat and pickled red meat and the risk of colorectal cancer in study subjects residing in Newfoundland and Labrador. This case-control study of 1,204 residents of Newfoundland and Labrador was part of a larger study on colorectal cancer. Personal history food frequency questionnaires were used to collect retrospective data from 518 individuals diagnosed with colorectal cancer and 686 controls. Intakes were ranked and divided into tertiles. Logistic regression was used to examine the possible association between meat intakes and colorectal cancer diagnosis while controlling for possible confounding factors. A positive, but non-statistically significant, association between total red meat intake and CRC was observed in this study. Pickled red meat consumption was found to be significantly associated with an increased risk of CRC (men, OR = 2.07, 95% CI 1.37-3.15; women, OR = 2.51, 95% CI 1.45-4.32), the odds ratios increasing with each tertile of consumption, suggesting a dose-response effect. Intake of pickled red meat appears to increase the risk of colorectal cancer in Newfoundland and Labrador.

  11. Newfoundland Power 2003 annual report : connected to customers

    International Nuclear Information System (INIS)

    2004-01-01

    This annual report provides a corporate profile and financial information from Newfoundland Power Inc. It also includes a review of its operations for 2003 and a summary of how the electric utility performed in terms of power generation, transmission and marketing. The utility serves 222,000 customers and operates on integrated generation, transmission and distribution system throughout Newfoundland and Labrador. Results for 2003 include strong financial performance, enhanced customer service, employee excellence, safety milestones, improved system reliability and environmental diligence. Earnings were improved to $29.5 million, up from 28.8 million in 2002. The improved earnings were due to increased energy sales of 2.5 per cent in the residential sector, and lower depreciation. This report summarized the company's energy resource activities and presented an operations review as well as consolidated financial statements and common share information. This included the utility's assets, liabilities, revenues, expenses and cash flows. Revenue and expenditure statements were summarized by source. tabs., figs

  12. Availability of thrombolytic therapy in rural Newfoundland and Labrador.

    OpenAIRE

    Marshall, S; Godwin, M; Miller, R

    1995-01-01

    OBJECTIVE: To determine the availability of thrombolytic therapy in rural Newfoundland and Labrador. DESIGN: Self-administered questionnaire mailed to staff at health care facilities. Respondents were sent two reminders by mail, and questionnaires not returned were completed through telephone interviews. SETTING: Rural health care facilities, including hospitals, 24-hour clinics and satellite clinics. PARTICIPANTS: All chief medical officers, nursing supervisors and administrators in the 34 g...

  13. Corporate Social Responsibility in Large Family and Founder Firms

    NARCIS (Netherlands)

    J.H. Block (Jörn); M. Wagner (Marcus)

    2010-01-01

    textabstractBased on arguments about long-term orientation and corporate reputation, we argue that family and founder firms differ from other firms with regard to corporate social responsibility. Using Bayesian analysis, we then show that family and founder ownership are associated with a lower

  14. Did you know? Petroleum industry fast facts: Newfoundland

    International Nuclear Information System (INIS)

    1999-10-01

    This is part of a series of brochures published by the Petroleum Communication Foundation, a non-profit society established in 1975. The foundation's objective is to stimulate public awareness and understanding of Canada's petroleum industry and its contribution to the economy of each of the provinces where the industry's presence and impact is substantial. This brochure provides brief, but useful, information about the province of Newfoundland, its size (405,720 sq.km), capital (St. John's), population (543.800 in 1998) major industries (petroleum and mining, manufacturing, fishing, logging and forestry, electricity and tourism), and revenue from natural resources ($ 175 million in 1998/1999, primarily in the form of expenditure commitments relating to exploration leases offshore and onshore). Also included are some facts about the petroleum industry in Newfoundland, (exploration and pre-production work in the offshore Terra Nova field, construction and development of the Hibernia project with production beginning in 1998, employment, etc.), and upstream industry expenditures in the province (about $ 1.15 billion in 1998). It is expected that by 2004 when the Terra Nova and White Rose projects are fully on stream, Newfoundland will produce one-third of Canada's conventional light crude oil output. map, pie-chart, figs

  15. Large family of quantum weak coin-flipping protocols

    International Nuclear Information System (INIS)

    Mochon, Carlos

    2005-01-01

    Each classical public-coin protocol for coin flipping is naturally associated with a quantum protocol for weak coin flipping. The quantum protocol is obtained by replacing classical randomness with quantum entanglement and by adding a cheat detection test in the last round that verifies the integrity of this entanglement. The set of such protocols defines a family which contains the protocol with bias 0.192 previously found by the author, as well as protocols with bias as low as 1/6 described herein. The family is analyzed by identifying a set of optimal protocols for every number of messages. In the end, tight lower bounds for the bias are obtained which prove that 1/6 is optimal for all protocols within the family

  16. Bay-scale population structure in coastal Atlantic cod in Labrador and Newfoundland, Canada

    DEFF Research Database (Denmark)

    Ruzzante, D.E.; Wroblewski, J.S.; Taggart, C.T.

    2000-01-01

    Polymorphisms at five microsatellite DNA loci provide evidence that Atlantic cod Gadus morhua inhabiting Gilbert Bay, Labrador are genetically distinguishable from offshore cod on the north- east Newfoundland shelf and from inshore cod in Trinity Bay, Newfoundland. Antifreeze activity in the bloo...

  17. The Newfoundland School Society (1830-1840): A Critical Discourse Analysis of Its Religious Education Efforts

    Science.gov (United States)

    English, Leona M.

    2012-01-01

    This article uses the lens of critical discourse analysis to examine the religious education efforts of the Newfoundland School Society (NSS), the main provider of religious education in Newfoundland in the 19th century. Although its focus was initially this colony, the NSS quickly broadened its reach to the whole British empire, making it one of…

  18. A preliminary assessment of the true morels (Morchella) in Newfoundland and Labrador

    Science.gov (United States)

    A preliminary assessment of true morels (Morchella) from Newfoundland and Labrador (NL) was obtained by using DNA sequence data from portions of three genes to identify 20 collections from Newfoundland and one from a remote location in Labrador. To place this work in a broader context, data on 25 co...

  19. Climate change studies for Newfoundland and Labrador Hydro

    International Nuclear Information System (INIS)

    Snelgrove, K.; Roberts, J.; Organ, M.

    2008-01-01

    Change is a constant for hydroelectric utilities. These organizations are continually faced with challenges involving future change. Traditionally, forecasting load has been essential but more and more there is evidence that climate change planning will be required to forecast supply issues as well. Newfoundland and Labrador Hydro (NLH) are initiating a study of climate change and its implications for operations and planning of hydroelectric and wind energy projects. In collaboration with Memorial University's Faculty of Engineering, NLH will begin this investigation by quantifying changes to volumes and timing of water inflows to their hydroelectric reservoirs and its impact on future operations. As the work continues, these studies may extend to climate induced load forecasting, the implications of icing and other climate extremes on infrastructure, and the integration of climate dependent alternate energy sources such as wind into the NLH system. NLH's group of companies is the 4th largest utility in Canada in terms of installed capacity at 7,289 MW. In addition to thermal generation, NLH operates 10 hydroelectric generating stations including the Churchill Falls facility at 5,428 MW, which boasts the second largest underground powerhouse in the world. Plans are currently underway to add a further 2,824 MW of installed capacity through the Lower Churchill Project as well as a mix of other conventional and alternate energy sources envisioned by the Government of Newfoundland and Labrador's Energy Plan. Many of these assets, especially hydro and wind energy generation are tightly coupled to the vagaries of the climate systems. Given these dependencies it is prudent to quantify the magnitude and uncertainty associated with future climate impacts. This presentation will summarize some of the very preliminary activities that have taken place to date, summarize literature that is available regarding climate projections for Newfoundland and Labrador and discuss

  20. Environmental effects monitoring at Cat Arm Hydraulic Development, Newfoundland, Canada

    International Nuclear Information System (INIS)

    Hill, E.L.

    1988-01-01

    The Cat Arm Dam is located on a plateau of the Long Range Mountains on Newfoundland's Great Northern Peninsula, and the 127 MW unit uses a 387 m head to produce an average of 676 GWh annually. Newfoundland and Labrador Hydro is conducting an environmental effects monitoring program in Cat Arm Reservoir to evaluate environmental impacts of the project. In the addendum to the Environmental Impact Statement of 1981, the utility agreed to a number of actions to mitigate the impacts of construction on fish populations, and to monitor the effects of reservoir creation, including the following. The mercury content of fish flesh, sediments and water would be monitored, and sampling would be undertaken prior to flooding to obtain baseline data, and for at least five years after flooding. The brook trout population would be monitored at various stages in the life of the reservoir in order to detect negative changes for which mitigative strategies could be applied. Alternative spawning habitat would be provided by removing barriers on streams or creating spawning beds if the monitoring program showed that recruitment was falling, and if these methods were ineffective, a compensatory stocking program would be considered. Extensive monitoring would be undertaken of the littoral zones, primary production in the reservoir, and of a number of limnological parameters to document long term changes in the reservoir. Although of academic interest, certain unusual characteristics of the Cat Arm reservoir, such as its low pH and dark colour, reduce its utility as a predictor of changes due to reservoir formation elsewhere in Newfoundland. 15 refs., 1 fig

  1. Canada-Newfoundland Offshore Petroleum Board : annual report 1996-1997

    International Nuclear Information System (INIS)

    1997-01-01

    Operations of the Canada-Newfoundland Offshore Petroleum Board during 1996-1997 were reviewed, summarizing activities in rights management, exploration, reservoir management, environmental affairs, operations and safety, Canada-Newfoundland benefits and financial matters. The Board manages the petroleum resources in the Newfoundland offshore area on behalf of the federal government of Canada and the provincial government of Newfoundland and Labrador. The Board ensures that resource development is conducted in accordance with good oilfield practices to optimize recovery and avoid waste, and that the operators' procurement decisions are consistent with their obligations and agreements with governments to provide economic and social benefits to Canada, and in particular to Newfoundland. The report summarizes energy resource activities, and presents a picture of revenues and expenditures. Current objectives and future plans under each heading are also reviewed. tabs., figs

  2. Gender diversity in top-management positions in large family and nonfamily businesses

    OpenAIRE

    Kay, Rosemarie; Schlömer-Laufen, Nadine

    2016-01-01

    (Why) does the sex ratio in top-management positions in large family and nonfamily businesses differ? Using a unique data set and estimating (fractional) logit regressions we show that the female share in top-management positions in family businesses exceeds the one in nonfamily businesses. One reason is the selection mechanism social homophily from which females in family businesses benefit more because of a higher female share in the decision making body in family businesses. Another reason...

  3. Study of a large Anglo-Saxon family with beta-thalassaemia trait.

    Science.gov (United States)

    Raik, E; Powell, E; Gordon, S

    1976-01-01

    Study of a large Anglo-Saxon family with beta-thalassaemia trait revealed evidence of consanguinity, moreover both branches of the family shared a Spanish ancestor. The manifestations of the disorder were varied in severity and yet the degree of severity appeared to breed true within any individual part of the family. Our explanation for the inheritance pattern observed in the family was to postulate the existence of two non-allelic genes influencing the rate of beta-chain synthesis.

  4. Operation Clean Feather: Reducing oil pollution in Newfoundland waters

    International Nuclear Information System (INIS)

    Chardine, J.W.; Pelly, G.

    1994-01-01

    Oil pollution of marine waters around Newfoundland, and particularly in the vicinity of Placentia Bay, is a frequent occurrence. Many oiled seabirds are found on beaches in the bay, particularly in winter. The most likely pollution sources are ship operators who dump waste oils from bilges and slop tanks. In an effort to reduce the chronic discharge of waste oil into Placentia Bay, and thus the incidence of bird oiling, Operation Clean Feather was launched in 1991-92 and consisted of weekly surveys of Placentia Bay beaches, sampling of oil from vessels using the bay and from oiled birds and beaches, and experimentation to determine possible recovery rates of birds oiled at sea. The operation was considered a success at a number of levels. Significant reductions in numbers of oiled birds were noted in both 1991 and 1992 compared to 1989 or 1990. Estimated oil-related mortality was reduced to ca 25% of levels seen in the two years prior to the operation. The operation also provided the opportunity to test and refine an organizational framework designed to deal with the problem of chronic oil pollution reports. Communication efforts heightened the awareness of the oil pollution problem in Newfoundland waters. These efforts included distribution of pamphlets in various languages to ship operators, describing the seriousness of oil-related marine bird mortality and warning of the substantial fines that can be imposed under the Canada Shipping Act. 6 refs., 3 figs., 1 tab

  5. Broad scan linkage analysis in a large Tourette family pedigree

    Energy Technology Data Exchange (ETDEWEB)

    Peiffer, A.; Leppert, M. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States); Wetering, B.J.M. van der [Univ. Hospital Rotterdam (Netherlands)

    1994-09-01

    Attempts to find a gene causing Tourette syndrome (TS) using linkage analysis have been unsuccessful even though as much as 65% of the autosomal genetic map has been excluded by the pooled results from several laboratories collaborating worldwide. One reason for this failure may be the misclassification of affection status of marry-in spouses. Specifically, we have found that six unrelated spouses in our Utah TS pedigree suffer from TS, obsessive-compulsive disorder or chronic motor tics. In light of these findings we decided to conduct a complete genomic scan from this Utah kindred with polymorphic markers in three related sibships in which there was no assortative mating. A linkage study assuming autosomal dominant inheritance was done using tetranucleotide repeat markers developed at the University of Utah. We selected markers that were less than 300 bp in size and that gave a heterozygosity of over 70% upon analysis in 4 CEPH families. Results to date with 95 markers run at an interval of 30 cM (covering 61% of the genome) show no evidence of linkage. We intend to extend the coverage to 100% of the genome. Pending completion of this scan, failure to provide evidence of linkage in our TS pedigree might then be attributed to phenotypic misclassification or erroneous assumptions regarding the genetic model of transmission.

  6. Bay-scale population structure in coastal Atlantic cod in Labrador and Newfoundland, Canada

    DEFF Research Database (Denmark)

    Ruzzante, D.E.; Wroblewski, J.S.; Taggart, C.T.

    2000-01-01

    Polymorphisms at five microsatellite DNA loci provide evidence that Atlantic cod Gadus morhua inhabiting Gilbert Bay, Labrador are genetically distinguishable from offshore cod on the north- east Newfoundland shelf and from inshore cod in Trinity Bay, Newfoundland. Antifreeze activity in the blood...... of population structure suggest that important barriers to gene flow exist among five components that include two inshore (Gilbert and Trinity Bay) and three offshore cod aggregations on the north-east Newfoundland Shelf and the Grand Bank. D-A and D-SW estimates of genetic distance that involve Gilbert Bay cod...

  7. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome

    NARCIS (Netherlands)

    Micheal, S.; Khan, M.I.; Akhtar, F.; Weiss, M.M.; Islam, F.; Ali, M.; Qamar, R.; Maugeri, A.; Hollander, A.I. den

    2012-01-01

    PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). METHODS: Blood samples were collected of 11 family members affected with Marfan syndrome, and DNA was isolated by phenol-extraction. The coding exons of

  8. Study on superhigh energy γ-ray family events with large-scale Fe emulsion chambers

    International Nuclear Information System (INIS)

    Ren Jingru; Lu Suiling; Su Shi

    1990-01-01

    Using a large-scale iron emulsion chamber, a big γ-ray family event with observed energy ΣE r = 7631 TeV was obtained. This paper described the advantages of iron emulsion chamber for studying big families and the characteristics of the event observed, together with a comparison with the Monte-Carlo simulation results

  9. Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology

    Directory of Open Access Journals (Sweden)

    Leila El Matri

    2013-01-01

    Full Text Available Purpose: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. Methods: Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG and color vision testing was performed for all subjects. Results: The youngest child from family A manifested typical Stargardt disease while her two brothers presented with Stargardt disease-fundus flavimaculatus (STGD-FFM and her two sisters demonstrated a peculiar phenotype overlapping Stargardt disease and cone-rod dystrophy; their phenotypic manifestation corresponded well with ERG groups I, II and III, respectively. This uncommon occurrence of an age-related decline in ERG amplitude and worsening of fundus changes is suggestive of a grading pattern in Stargardt disease. Their two cousins in family B, displayed the STGD-FFM phenotype. Despite clinically similar STGD-FFM patterns in both families, age of onset and progression of the phenotype in family B differed from family A. Conclusion: This is the first report on phenotypic variation of Stargardt disease in a large Tunisian family. Regarding phenotype and severity of visual symptoms, family A demonstrated Stargardt disease at various stages of progression. In addition, STGDFFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt′s disease.

  10. Developing Wine Tourism: An Exploratory Study of Wineries in Newfoundland

    Directory of Open Access Journals (Sweden)

    Roselyne N. OKECH

    2016-06-01

    Full Text Available This study identifies the wine tourism product and the experience as well as factors that contribute to wine preferences and consumption. This is a case study of wine tourists’ visiting the Auk Island winery, Twillingate and Rodrigues winery, Markland both in Newfoundland Province. The research results reveal that most of the visitors came to the wineries because they were on vacation, wine tasting and wine purchasing. The study further revealed that quality of wines, wine taste tour and value for money influenced their decision to purchase the wines. Overall, there were significant relationships found in demographic characteristics and wine references and these findings, have an implication for wine tourism promotion in the Province in future.

  11. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

    Directory of Open Access Journals (Sweden)

    Shotland Lawrence I

    2004-09-01

    Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.

  12. Laser fluorosensor demonstration flights over Newfoundland coastal waters. Volume 1

    International Nuclear Information System (INIS)

    Brown, C.E.; Marois, R.

    2007-01-01

    The development and application of advanced oil spill remote sensing equipment was discussed with particular reference to 9 laser fluorosensor demonstration flights undertaken in March 2007 in the coastal waters of Newfoundland and Labrador. The Scanning Laser Environmental Airborne Fluorosensor (SLEAF) provides a fluorescent spectrum of oil to accurately identify even small amounts of fresh crudes equally well during full daylight conditions as at night. They allow for airborne detection, classification, surveillance monitoring of oil spills, as well as the exploration of marine petroleum resources. With the advent of powerful processors in modern computers, the classification capabilities of laser fluorosensors have significantly improved. Fluorescence information can be quickly transferred to response personnel on the ground or at sea to help plan effective oil spill countermeasures and to mitigate the effects of an oil spill in marine and coastal environments. Laser fluorosensors can successfully discriminate between oiled and un-oiled weeds and detect oil in water, snow, ice and beaches. The SLEAF flights were the third series undertaken over a period of 4 years in later winter weather conditions. The flights were focused over shipping lanes south of Newfoundland and Labrador around the local petroleum handling facilities. In addition to laser data, they provided georeferenced infrared, ultraviolet, colour video and digital still imagery. During the flights, SLEAF did not indicate much evidence of petroleum oil on the surface of the marine environment. None of the flights over 17 marine tankers, container vessels, supply vessels and tugs indicated any signs of oily discharge. 10 refs., 1 tab., 7 figs

  13. Malaysia: where big is still better. For Malays, large families are part of the plan.

    Science.gov (United States)

    1993-11-03

    The benefits of various-sized families in Malaysia were discussed by several women and supplemented with official statements on family planning (FP). The Director of the National Population and Family Development, Dr. Raj Karim, advised that maternal health is jeopardized when women have more than five children. About 30% of reproductive age women in Malaysia have five or more children. A Federation of FP Associations spokesperson agreed that women should be advised of the dangers of bearing over five children, of the importance of spacing births two to four years apart, and of the ideal age of childbearing (21-39 years). The government lacks an official policy on family size. The government position is, however, compatible with Islamic teachings on spacing in order to protect the health of the mother and child. Islamic law does not permit sterilization or abortion. The "fatwas" of Islamic teaching may have been misconstrued by those not using any form of contraception. Dr. Karim, who has five children, reported that having a large family can be difficult for a woman with a job, a career, and a husband or when both parents work. Most Malays desire large families. The average Malay family size was 4.1 children in 1990; Malaysian Chinese have fertility of 2.3 children and Malaysian Indians have 2.6 children. People say that the benefits outweigh the hardships of a large family.

  14. THE DEVELOPMENT OF SERVICES IN THE FIELD OF SOCIAL WORK WITH LARGE FAMILIES

    Directory of Open Access Journals (Sweden)

    Юлія Ібрагім

    2015-09-01

    Full Text Available The development of social services in the field of social work with large families is analyzed and their basic functions are defined in the article. The necessity of implementation of the system of guaranteed social and educational support to families depending on the type of large families, which would be provided by governmental and nongovernmental organizations, including public organizations are considered and analyzed. The statistical data on the number and proportion of large families in Ukraine in general and namely in Kharkiv region are provided. The principle of subsidiarity, which is the basis of the full development of the state and is based on the redistribution of responsibility for the formation of family welfare from the state to the family, and receipt of primary social and pedagogical support of public organizations in case you are unable to solve certain problems is disclosed. The article also presents practical experience in providing social and educational support by public organization Association of large families “AMMA”” in Kharkiv.

  15. The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.

    Science.gov (United States)

    Milting, Hendrik; Klauke, Bärbel; Christensen, Alex Hoerby; Müsebeck, Jörg; Walhorn, Volker; Grannemann, Sören; Münnich, Tamara; Šarić, Tomo; Rasmussen, Torsten Bloch; Jensen, Henrik Kjærulf; Mogensen, Jens; Baecker, Carolin; Romaker, Elena; Laser, Kai Thorsten; zu Knyphausen, Edzard; Kassner, Astrid; Gummert, Jan; Judge, Daniel P; Connors, Sean; Hodgkinson, Kathy; Young, Terry-L; van der Zwaag, Paul A; van Tintelen, J Peter; Anselmetti, Dario

    2015-04-07

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition caused predominantly by mutations within desmosomal genes. The mutation leading to ARVC-5 was recently identified on the island of Newfoundland and caused by the fully penetrant missense mutation p.S358L in TMEM43. Although TMEM43-p.S358L mutation carriers were also found in the USA, Germany, and Denmark, the genetic relationship between North American and European patients and the disease mechanism of this mutation remained to be clarified. We screened 22 unrelated ARVC patients without mutations in desmosomal genes and identified the TMEM43-p.S358L mutation in a German ARVC family. We excluded TMEM43-p.S358L in 22 unrelated patients with dilated cardiomyopathy. The German family shares a common haplotype with those from Newfoundland, USA, and Denmark, suggesting that the mutation originated from a common founder. Examination of 40 control chromosomes revealed an estimated age of 1300-1500 years for the mutation, which proves the European origin of the Newfoundland mutation. Skin fibroblasts from a female and two male mutation carriers were analysed in cell culture using atomic force microscopy and revealed that the cell nuclei exhibit an increased stiffness compared with TMEM43 wild-type controls. The German family is not affected by a de novo TMEM43 mutation. It is therefore expected that an unknown number of European families may be affected by the TMEM43-p.S358L founder mutation. Due to its deleterious clinical phenotype, this mutation should be checked in any case of ARVC-related genotyping. It appears that the increased stiffness of the cell nucleus might be related to the massive loss of cardiomyocytes, which is typically found in ventricles of ARVC hearts. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: journals.permissions@oup.com.

  16. A large pericardial effusion and bilateral pleural effusions as the initial manifestations of Familial Mediterranean Fever

    OpenAIRE

    Schembri, Emma Louise; Mifsud, Simon; Cassar Demarco, Daniela; Coleiro, Bernard; Mallia, Carmel

    2015-01-01

    Familial Mediterranean Fever (FMF) is a condition characterized by recurrent febrile poly-serositis. Typical presentations of the disease include episodes of fever, abdominal pain and joint pains. Chest pain is a less common presentation. We report a case of FMF which presented with a large pericardial effusion and bilateral pleural effusions in a lady who had no positive family history and negative genetic testing.

  17. Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family

    NARCIS (Netherlands)

    Nikkola, Elina; Ko, Arthur; Alvarez, Marcus; Cantor, Rita M.; Garske, Kristina; Kim, Elliot; Gee, Stephanie; Rodriguez, Alejandra; Muxel, Reinhard; Matikainen, Niina; Söderlund, Sanni; Motazacker, Mahdi M.; Borén, Jan; Lamina, Claudia; Kronenberg, Florian; Schneider, Wolfgang J.; Palotie, Aarno; Laakso, Markku; Taskinen, Marja-Riitta; Pajukanta, Päivi

    2017-01-01

    Background and aims: Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41-0.50). However, a large part of this heritability cannot be explained by the

  18. Ultra Large Gene Families: A Matter of Adaptation or Genomic Parasites?

    Directory of Open Access Journals (Sweden)

    Philipp H. Schiffer

    2016-08-01

    Full Text Available Gene duplication is an important mechanism of molecular evolution. It offers a fast track to modification, diversification, redundancy or rescue of gene function. However, duplication may also be neutral or (slightly deleterious, and often ends in pseudo-geneisation. Here, we investigate the phylogenetic distribution of ultra large gene families on long and short evolutionary time scales. In particular, we focus on a family of NACHT-domain and leucine-rich-repeat-containing (NLR-genes, which we previously found in large numbers to occupy one chromosome arm of the zebrafish genome. We were interested to see whether such a tight clustering is characteristic for ultra large gene families. Our data reconfirm that most gene family inflations are lineage-specific, but we can only identify very few gene clusters. Based on our observations we hypothesise that, beyond a certain size threshold, ultra large gene families continue to proliferate in a mechanism we term “run-away evolution”. This process might ultimately lead to the failure of genomic integrity and drive species to extinction.

  19. Economics of Newfoundland and Labrador's offshore oil industry : separating fact from myth

    International Nuclear Information System (INIS)

    Locke, W.

    2006-01-01

    This presentation provided an analysis of the Newfoundland offshore oil sector to help inform public understanding and debate. Four questions were posed to the oil sector in order to provide answers to questions the public may have concerning oil and gas operations and their socio-economic impacts in the region. It was observed that Newfoundland's daily production, reserves and activity levels are relatively small in comparison with other major oil producing regions, accounting for only 0.4 per cent of the world's daily oil production. On a per capita basis, oil production in the region is significant in comparison to other oil-producing regions, placing fourth in the world behind the United Arab Emirates, Kuwait, and Norway. The oil and gas sector is the largest single contributor to Newfoundland's economy, providing 16 per cent of Newfoundland's gross domestic product (GDP). An estimated $16 billion will be provided to the province's treasury through the exploitation of the province's resources. Production statistics for Hibernia, Terra Nova, White Rose and Hebron were presented. Price forecasts and projected royalty payments were also provided. It was noted that the Newfoundland government receives more than 50 per cent of the profits of the combined fields, and higher oil prices will yield higher shares to the government. Equity holders incur more risk and receive lower net present value than royalty and tax collectors. It was suggested that increases in local benefits will lead to increased project costs, which will in turn lead to reduced royalty incomes. It was concluded that the Newfoundland offshore oil sector is vitally important to all aspects of the province's economy. An informed debate on public policy issues that impact Newfoundland's offshore oil industry is needed. refs., tabs., figs

  20. Fermeuse wind power project Newfoundland : noise and visual analysis studies

    Energy Technology Data Exchange (ETDEWEB)

    Henn, P.; Turgeon, J.; Heraud, P.; Belanger, S.; Dakousian, S.; Lamontagne, C.; Soares, D. [Helimax Energy Inc., Montreal, PQ (Canada); Basil, C.; Boulianne, S.; Salacup, S.; Thompson, C. [Skypower, Toronto, ON (Canada)

    2008-03-15

    This paper discussed the noise and visual analyses used to assess the potential impacts of a wind energy project on the east coast of the Avalon Peninsula near St. John's, Newfoundland. The proposed farm will be located approximately 1 km away from the town of Fermeuse, and will have an installed capacity of 27 MW from 9 turbines. The paper provided details of the consultation process conducted to determine acceptable distance and site locations for the wind turbines from the community. Stakeholders were identified during meetings, events, and discussions with local authorities. Consultations were also held with government agencies and municipal councils. A baseline acoustic environment study was conducted, and details of anticipated environmental impacts during the project's construction, operation, and decommissioning phases were presented. The visual analysis study was divided into the following landscape units: town, shoreline, forest, open land and lacustrine landscapes. The effect of the turbines on the landscapes were assessed from different viewpoints using visual simulation programs. The study showed that the visual effects of the project are not considered as significant because of the low number of turbines. It was concluded that the effect of construction on ambient noise levels is of low concern as all permanent dwellings are located at least 1 km away from the turbines. 2 refs., 4 tabs., 4 figs.

  1. Klebsiella species associated with bovine mastitis in Newfoundland.

    Directory of Open Access Journals (Sweden)

    Milka P Podder

    Full Text Available Klebsiella spp. is a common cause of bovine mastitis, but information regarding its molecular epidemiology is lacking from many parts of the world. On using mass spectrometry and partial sequencing of the rpoB gene, it was found that over a one year study, K. variicola and Enterobacter cloacae were misidentified as K. pneumoniae in a small number of clinical mastitis (CM cases from Newfoundland. Results suggest that the currently used standard biochemical/phenotypic tests lack the sensitivity required to accurately discriminate among the three mentioned Gram negative bacteria. In addition, a single strain of K. variicola was associated with CM from one farm in the study as demonstrated by Random Amplified Polymorphic DNA (RAPD PCR. To the best of our knowledge, K. variicola, which is normally found in the environment, has not been isolated previously from milk obtained from cows with CM. Therefore, it is possible that K. variicola was not detected in milk samples in the past due to the inability of standard tests to discriminate it from other Klebsiella species.

  2. Some impacts and mitigations for small hydro developments in Newfoundland and Labrador

    International Nuclear Information System (INIS)

    Buchanan, R.

    1993-01-01

    Potential adverse impacts of small hydro power plants were defined and some of the mitigative techniques that can be used to eliminate or alleviate these impacts were outlined. Potential adverse impacts involved in the construction of hydro projects were identified as those associated with construction of dams, borrow areas, access roads, powerhouses, canals, penstocks, and transmission lines. Fish passage and fish habitat maintenance were also among the major issues that confront most of the proposed small hydro projects in Newfoundland. Fish passage and habitat issues received particular attention in view of their obvious importance in a province where fishing is a way of life for large segments of the population. Major challenges included both upstream and downstream fish passage, and maintenance flows downstream of dams. Upstream migration could be facilitated by fishways. Downstream migration of Atlantic salmon smolts was said to be more problematic, but could be addressed by strategies such as intake design, screens, bypasses, sluices, turbine selection, plant shutdowns at critical times and operation of turbines at peak efficiencies. 12 refs., 2 tabs

  3. Forecasting severe ice storms using numerical weather prediction: the March 2010 Newfoundland event

    Directory of Open Access Journals (Sweden)

    J. Hosek

    2011-02-01

    Full Text Available The northeast coast of North America is frequently hit by severe ice storms. These freezing rain events can produce large ice accretions that damage structures, frequently power transmission and distribution infrastructure. For this reason, it is highly desirable to model and forecast such icing events, so that the consequent damages can be prevented or mitigated. The case study presented in this paper focuses on the March 2010 ice storm event that took place in eastern Newfoundland. We apply a combination of a numerical weather prediction model and an ice accretion algorithm to simulate a forecast of this event.

    The main goals of this study are to compare the simulated meteorological variables to observations, and to assess the ability of the model to accurately predict the ice accretion load for different forecast horizons. The duration and timing of the freezing rain event that occurred between the night of 4 March and the morning of 6 March was simulated well in all model runs. The total precipitation amounts in the model, however, differed by up to a factor of two from the observations. The accuracy of the model air temperature strongly depended on the forecast horizon, but it was acceptable for all simulation runs. The simulated accretion loads were also compared to the design values for power delivery structures in the region. The results indicated that the simulated values exceeded design criteria in the areas of reported damage and power outages.

  4. Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

    Science.gov (United States)

    McWilliams, S; Nelson, T; Sudo, R T; Zapata-Sudo, G; Batti, M; Sambuughin, N

    2002-07-01

    Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. Haplotype analysis of the RYR1 gene area at 19q13 in the family with multiple MH members is an important tool in identification of genetic cause underlying this disease.

  5. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

    Science.gov (United States)

    Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

    2009-10-01

    To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

  6. Position statement on 'Economic Impact of Oil and Gas Development within the Province of Newfoundland and Labrador

    International Nuclear Information System (INIS)

    1998-01-01

    This document contains the statement outlining the official position of the Newfoundland Ocean Industries Association (NOIA) concerning the report on the 'Economic Impact of Oil and Gas Development within the Province of Newfoundland and Labrador'. NOIA's position reflects the concern that Newfoundland businesses and individuals be involved in this emerging industry. Not unexpectedly, the statement is directed primarily towards improving economic opportunity for its members, but it also argues in favour of increasing economic activity within the province as whole. The Position Statement addresses six major issues of concern. These are: a full and fair opportunity for Newfoundland-resident supply and service companies to bid on an internationally competitive basis; a level playing field for all those who submit bids for contracts; enhancement of Newfoundland technology, expertise and facilities, as well as support of technology transfer to interested and capable Newfoundland businesses or companies; a life-of-field approach to planning, or linking capital expenditure and operational expenditure in order to achieve long-term positive economic impact within Newfoundland and Labrador; a supplier development program to encourage the development of an internationally competitive Newfoundland supply community; and the encouragement of operators and major contractors to fulfill specific requirements for positive economic impact within the province

  7. Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family.

    Science.gov (United States)

    He, Yuan; Wu, Qiang; Xu, Zhipeng; Wang, Qianqian; Wang, Weili; Li, Dezhong; Liu, Wanhong; He, Xiaohua

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China. A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred. Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients. These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study. Copyright © 2012 S. Karger AG, Basel.

  8. Evaluating the feasibility of using candidate DNA barcodes in discriminating species of the large Asteraceae family.

    Science.gov (United States)

    Gao, Ting; Yao, Hui; Song, Jingyuan; Zhu, Yingjie; Liu, Chang; Chen, Shilin

    2010-10-26

    Five DNA regions, namely, rbcL, matK, ITS, ITS2, and psbA-trnH, have been recommended as primary DNA barcodes for plants. Studies evaluating these regions for species identification in the large plant taxon, which includes a large number of closely related species, have rarely been reported. The feasibility of using the five proposed DNA regions was tested for discriminating plant species within Asteraceae, the largest family of flowering plants. Among these markers, ITS2 was the most useful in terms of universality, sequence variation, and identification capability in the Asteraceae family. The species discriminating power of ITS2 was also explored in a large pool of 3,490 Asteraceae sequences that represent 2,315 species belonging to 494 different genera. The result shows that ITS2 correctly identified 76.4% and 97.4% of plant samples at the species and genus levels, respectively. In addition, ITS2 displayed a variable ability to discriminate related species within different genera. ITS2 is the best DNA barcode for the Asteraceae family. This approach significantly broadens the application of DNA barcoding to resolve classification problems in the family Asteraceae at the genera and species levels.

  9. Evaluating the feasibility of using candidate DNA barcodes in discriminating species of the large Asteraceae family

    Directory of Open Access Journals (Sweden)

    Liu Chang

    2010-10-01

    Full Text Available Abstract Background Five DNA regions, namely, rbcL, matK, ITS, ITS2, and psbA-trnH, have been recommended as primary DNA barcodes for plants. Studies evaluating these regions for species identification in the large plant taxon, which includes a large number of closely related species, have rarely been reported. Results The feasibility of using the five proposed DNA regions was tested for discriminating plant species within Asteraceae, the largest family of flowering plants. Among these markers, ITS2 was the most useful in terms of universality, sequence variation, and identification capability in the Asteraceae family. The species discriminating power of ITS2 was also explored in a large pool of 3,490 Asteraceae sequences that represent 2,315 species belonging to 494 different genera. The result shows that ITS2 correctly identified 76.4% and 97.4% of plant samples at the species and genus levels, respectively. In addition, ITS2 displayed a variable ability to discriminate related species within different genera. Conclusions ITS2 is the best DNA barcode for the Asteraceae family. This approach significantly broadens the application of DNA barcoding to resolve classification problems in the family Asteraceae at the genera and species levels.

  10. A 4-year study of avian influenza virus prevalence and subtype diversity in ducks of Newfoundland, Canada.

    Science.gov (United States)

    Huang, Yanyan; Wille, Michelle; Dobbin, Ashley; Robertson, Gregory J; Ryan, Pierre; Ojkic, Davor; Whitney, Hugh; Lang, Andrew S

    2013-10-01

    The island of Newfoundland, Canada, is at the eastern edge of North America and has migratory bird connections with the continental mainland as well as across the North Atlantic Ocean. Here, we report a 4-year avian influenza virus (AIV) epidemiological study in ducks in the St. John's region of Newfoundland. The overall prevalence of AIV detection in ducks during this study was 7.2%, with American Black Ducks contributing the vast majority of the collected samples and the AIV positives. The juvenile ducks showed a significantly higher AIV detection rate (10.6%) compared with adults (3.4%). Seasonally, AIV prevalence rates were higher in the autumn (8.4%), but positives were still detected in the winter (4.6%). Preliminary serology tests showed a high incidence of previous AIV infection (20/38, 52.6%). A total of 43 viruses were characterized for their HA-NA or HA subtypes, which revealed a large diversity of AIV subtypes and little recurrence of subtypes from year to year. Investigation of the movement patterns of ducks in this region showed that it is a largely non-migratory duck population, which may contribute to the observed pattern of high AIV subtype turnover. Phylogenetic analysis of 4 H1N1 and one H5N4 AIVs showed these viruses were highly similar to other low pathogenic AIV sequences from waterfowl in North America and assigned all gene segments into American-avian clades. Notably, the H1N1 viruses, which were identified in consecutive years, possessed homologous genomes. Such detection of homologous AIV genomes across years is rare, but indicates the role of the environmental reservoir in viral perpetuation.

  11. Offshore Newfoundland: from a project to an industry. Conference '95 proceedings

    International Nuclear Information System (INIS)

    Keough, S.

    1995-01-01

    The Proceedings of the 11. International Offshore Petroleum Conference consists of 18 papers, organized into four sessions, dealing, respectively, with (1) Hibernia today, (2) downstream operations, (3) future developments, and (4) international marketing and competitiveness. The majority of the papers dealt with the Hibernia project off the coast of Newfoundland. An update of the project to date, planning for the start-up of production, lifting and transportation problems, plans for the Come By Chance refinery, future developments, marketing Newfoundland's offshore expertise internationally, and perspectives on the international oil and gas industry were the principal issues discussed. A list of conference participants was also included. Figs., tabs

  12. The roles of segmental and tandem gene duplication in the evolution of large gene families in Arabidopsis thaliana

    Directory of Open Access Journals (Sweden)

    Baumgarten Andrew

    2004-06-01

    Full Text Available Abstract Background Most genes in Arabidopsis thaliana are members of gene families. How do the members of gene families arise, and how are gene family copy numbers maintained? Some gene families may evolve primarily through tandem duplication and high rates of birth and death in clusters, and others through infrequent polyploidy or large-scale segmental duplications and subsequent losses. Results Our approach to understanding the mechanisms of gene family evolution was to construct phylogenies for 50 large gene families in Arabidopsis thaliana, identify large internal segmental duplications in Arabidopsis, map gene duplications onto the segmental duplications, and use this information to identify which nodes in each phylogeny arose due to segmental or tandem duplication. Examples of six gene families exemplifying characteristic modes are described. Distributions of gene family sizes and patterns of duplication by genomic distance are also described in order to characterize patterns of local duplication and copy number for large gene families. Both gene family size and duplication by distance closely follow power-law distributions. Conclusions Combining information about genomic segmental duplications, gene family phylogenies, and gene positions provides a method to evaluate contributions of tandem duplication and segmental genome duplication in the generation and maintenance of gene families. These differences appear to correspond meaningfully to differences in functional roles of the members of the gene families.

  13. Quantitative linkage genome scan for atopy in a large collection of Caucasian families

    DEFF Research Database (Denmark)

    Webb, BT; van den Oord, E; Akkari, A

    2007-01-01

    adulthood, asthma is frequently associated also with quantitative measures of atopy. Genome wide quantitative multipoint linkage analysis was conducted for serum IgE levels and percentage of positive skin prick test (SPT(per)) using three large groups of families originally ascertained for asthma....... In this report, 438 and 429 asthma families were informative for linkage using IgE and SPT(per) which represents 690 independent families. Suggestive linkage (LOD >/= 2) was found on chromosomes 1, 3, and 8q with maximum LODs of 2.34 (IgE), 2.03 (SPT(per)), and 2.25 (IgE) near markers D1S1653, D3S2322-D3S1764...... represents one of the biggest genome scans so far reported for asthma related phenotypes. This study also demonstrates the utility of increased sample sizes and quantitative phenotypes in linkage analysis of complex disorders....

  14. Quantitative linkage genome scan for atopy in a large collection of Caucasian families

    DEFF Research Database (Denmark)

    Webb, BT; van den Oord, E; Akkari, A

    2007-01-01

    Quantitative phenotypes correlated with a complex disorder offer increased power to detect linkage in comparison to affected-unaffected classifications. Asthma is a complex disorder characterized by periods of bronchial obstruction and increased bronchial hyper reactivity. In childhood and early...... adulthood, asthma is frequently associated also with quantitative measures of atopy. Genome wide quantitative multipoint linkage analysis was conducted for serum IgE levels and percentage of positive skin prick test (SPT(per)) using three large groups of families originally ascertained for asthma....... In this report, 438 and 429 asthma families were informative for linkage using IgE and SPT(per) which represents 690 independent families. Suggestive linkage (LOD >/= 2) was found on chromosomes 1, 3, and 8q with maximum LODs of 2.34 (IgE), 2.03 (SPT(per)), and 2.25 (IgE) near markers D1S1653, D3S2322-D3S1764...

  15. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

    Energy Technology Data Exchange (ETDEWEB)

    Edwards, M.J.; Roberts, J.; Partington, M.W. [Newcastle and Northern New South Wales Genetics Service (Australia); Colley, P.W. [John Hunter Hospital, Newcastle (Australia); Hollway, G.E.; Kozman, H.M.; Mulley, J.C. [Adelaide Children`s Hospital, North Adelaide (Australia)

    1994-10-15

    Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. 25 refs., 6 figs., 2 tabs.

  16. A family of conjugate gradient methods for large-scale nonlinear equations

    Directory of Open Access Journals (Sweden)

    Dexiang Feng

    2017-09-01

    Full Text Available Abstract In this paper, we present a family of conjugate gradient projection methods for solving large-scale nonlinear equations. At each iteration, it needs low storage and the subproblem can be easily solved. Compared with the existing solution methods for solving the problem, its global convergence is established without the restriction of the Lipschitz continuity on the underlying mapping. Preliminary numerical results are reported to show the efficiency of the proposed method.

  17. A family of conjugate gradient methods for large-scale nonlinear equations.

    Science.gov (United States)

    Feng, Dexiang; Sun, Min; Wang, Xueyong

    2017-01-01

    In this paper, we present a family of conjugate gradient projection methods for solving large-scale nonlinear equations. At each iteration, it needs low storage and the subproblem can be easily solved. Compared with the existing solution methods for solving the problem, its global convergence is established without the restriction of the Lipschitz continuity on the underlying mapping. Preliminary numerical results are reported to show the efficiency of the proposed method.

  18. Episodic reactivation of a Late Precambrian mylonite zone on the Gondwanan Margin of the Appalachians, southern Newfoundland

    Science.gov (United States)

    O'Brien, B. H.; O'Brien, S. J.; Dunning, G. R.; Tucker, R. D.

    1993-08-01

    The Grand Bruit Fault Zone of southern Newfoundland is a fundamental structure within Late Precambrian basement on the Gondwanan margin of the Appalachian orogen. Within the fault zone, a sequence of structures documents changes in the sense of ductile displacement from (1) reverse dip slip, to (2) dextral strike slip, to (3) sinistral oblique slip, and, finally, to (4) dextral lateral offsets. Fault movements along this structure were punctuated by emplacement of a variety of plutons and minor intrusions which, when precisely dated, allow these movements to be bracketed at between 571 Ma and 564 Ma, 497 Ma and 427 Ma, 424 Ma and 420 Ma, and 421 Ma and 387 Ma, respectively. The tectonic evolution of the Gondwanan inlier of southern Newfoundland is mirrored, in large part, by the record of mylonite development within the Grand Bruit Fault Zone. These tectonic events are attributable to well-constrained, regional orogenic events of both the Pan-African and Appalachian cycles. Newly formed shear zones in the fault zone reactivate parts of much older faults of similar regional orientation and are, in some cases, kinematically indistinguishable from the ancestral structures. Integration of precise geochronological data with the sequence of overprinted fault structures demonstrates that, although the role of progressive deformation in shear zone development was important, the observed disposition of structures and rock units is primarily a function of polyorogenic accretion. As a multiple-reactivated structural lineament in a Gondwanan basement inlier, the fault zone exerted fundamental control over the tectonic development of the leading edge of the convergent southeast margin of the orogen.

  19. The Experience of Unemployment for Fishery Workers in Newfoundland: What Helps and Hinders.

    Science.gov (United States)

    Borgen, William A.; Amundson, Norman E.; McVicar, Jonathan

    2002-01-01

    Explores the unemployment experience of people involved in the fishery and living in the outports of Newfoundland and Labrador. Fifty-three critical incident interviews were conducted by community outreach workers. These interviews yielded important information about the factors that facilitated or hindered the unemployment experience. (Contains…

  20. First Nations, Métis and Inuit Presence in the Newfoundland and Labrador Curriculum

    Science.gov (United States)

    Godlewska, Anne; Rose, John; Schaefli, Laura; Freake, Sheila; Massey, Jennifer

    2017-01-01

    This article responds to the Truth and Reconciliation Commission Canada's 2015 call for the education of Canadians about "residential schools, treaties, and Aboriginal peoples' historical and contemporary contributions to Canada." It is an analysis of the Canadian and world studies curricula and texts in Newfoundland and Labrador, 1 of…

  1. Penetrance and clinical consequences of a gross SDHB deletion in a large family.

    Science.gov (United States)

    Solis, D C; Burnichon, N; Timmers, H J L M; Raygada, M J; Kozupa, A; Merino, M J; Makey, D; Adams, K T; Venisse, A; Gimenez-Roqueplo, A-P; Pacak, K

    2009-04-01

    Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described. However, the phenotype and penetrance of gross SDHB deletions have not been well characterized as they are rarely described. The objective was to describe the phenotype and estimate the penetrance of an exon 1 large SDHB deletion in one kindred. A retrospective and prospective study of 41 relatives across five generations was carried out. The main outcome measures were genetic testing, clinical presentations, plasma catecholamines and their O-methylated metabolites. Of the 41 mutation carriers identified, 11 were diagnosed with PGL, 12 were found to be healthy carriers after evaluation, and 18 were reportedly healthy based on family history accounts. The penetrance of PGL related to the exon 1 large SDHB deletion in this family was estimated to be 35% by age 40. Variable expressivity of the phenotype associated with a large exon 1 SDHB deletion was observed, including low penetrance, diverse primary PGL tumor locations, and malignant potential.

  2. Arguing for a multi-hazard mapping program in Newfoundland and Labrador, Canada

    Science.gov (United States)

    Batterson, Martin; Neil, Stapleton

    2010-05-01

    This poster describes efforts to implement a Provincial multi-hazard mapping program, and will explore the challenges associated with this process. Newfoundland and Labrador is on the eastern edge of North America, has a large land area (405,212 km2) and a small population (510,000; 2009 estimate). The province currently has no legislative framework to control development in hazardous areas, but recent landslides in the communities of Daniel's Harbour and Trout River, both of which forced the relocation of residents, emphasize the need for action. There are two factors which confirm the need for a natural hazard mapping program: the documented history of natural disasters, and the future potential impacts of climate change. Despite being relatively far removed from the impacts of earthquake and volcanic activity, Newfoundland and Labrador has a long history of natural disasters. Rockfall, landslide, avalanche and flood events have killed at least 176 people over the past 225 years, many in their own homes. Some of the fatalities resulted from the adjacency of homes to places of employment, and of communities and roads to steep slopes. Others were likely the result of chance, and were thus unavoidable. Still others were the result of poor planning, albeit unwitting. Increasingly however, aesthetics have replaced pragmatism as a selection criterion for housing developments, with residential construction being contemplated for many coastal areas. The issue is exacerbated by the impacts of climate change, which while not a universal bane for the Province, will likely result in rising sea level and enhanced coastal erosion. Much of the Province's coastline is receding at up to 30 cm (and locally higher) per year. Sea level is anticipated to rise by 70cm to over 100 cm by 2099, based on IPCC predictions, plus the effects of enhanced ice sheet melting, plus (or minus) continued local isostatic adjustment. The history of geological disasters, coupled with pressures on

  3. Evolutionary mechanisms driving the evolution of a large polydnavirus gene family coding for protein tyrosine phosphatases

    Directory of Open Access Journals (Sweden)

    Serbielle Céline

    2012-12-01

    Full Text Available Abstract Background Gene duplications have been proposed to be the main mechanism involved in genome evolution and in acquisition of new functions. Polydnaviruses (PDVs, symbiotic viruses associated with parasitoid wasps, are ideal model systems to study mechanisms of gene duplications given that PDV genomes consist of virulence genes organized into multigene families. In these systems the viral genome is integrated in a wasp chromosome as a provirus and virus particles containing circular double-stranded DNA are injected into the parasitoids’ hosts and are essential for parasitism success. The viral virulence factors, organized in gene families, are required collectively to induce host immune suppression and developmental arrest. The gene family which encodes protein tyrosine phosphatases (PTPs has undergone spectacular expansion in several PDV genomes with up to 42 genes. Results Here, we present strong indications that PTP gene family expansion occurred via classical mechanisms: by duplication of large segments of the chromosomally integrated form of the virus sequences (segmental duplication, by tandem duplications within this form and by dispersed duplications. We also propose a novel duplication mechanism specific to PDVs that involves viral circle reintegration into the wasp genome. The PTP copies produced were shown to undergo conservative evolution along with episodes of adaptive evolution. In particular recently produced copies have undergone positive selection in sites most likely involved in defining substrate selectivity. Conclusion The results provide evidence about the dynamic nature of polydnavirus proviral genomes. Classical and PDV-specific duplication mechanisms have been involved in the production of new gene copies. Selection pressures associated with antagonistic interactions with parasitized hosts have shaped these genes used to manipulate lepidopteran physiology with evidence for positive selection involved in

  4. A large and functionally diverse family of Fad2 genes in safflower (Carthamus tinctorius L.

    Directory of Open Access Journals (Sweden)

    Cao Shijiang

    2013-01-01

    Full Text Available Abstract Background The application and nutritional value of vegetable oil is highly dependent on its fatty acid composition, especially the relative proportion of its two major fatty acids, i.e oleic acid and linoleic acid. Microsomal oleoyl phosphatidylcholine desaturase encoded by FAD2 gene is known to introduce a double bond at the Δ12 position of an oleic acid on phosphatidylcholine and convert it to linoleic acid. The known plant FAD2 enzymes are encoded by small gene families consisting of 1-4 members. In addition to the classic oleate Δ12-desaturation activity, functional variants of FAD2 that are capable of undertaking additional or alternative acyl modifications have also been reported in a limited number of plant species. In this study, our objective was to identify FAD2 genes from safflower and analyse their differential expression profile and potentially diversified functionality. Results We report here the characterization and functional expression of an exceptionally large FAD2 gene family from safflower, and the temporal and spatial expression profiles of these genes as revealed through Real-Time quantitative PCR. The diversified functionalities of some of the safflower FAD2 gene family members were demonstrated by ectopic expression in yeast and transient expression in Nicotiana benthamiana leaves. CtFAD2-1 and CtFAD2-10 were demonstrated to be oleate desaturases specifically expressed in developing seeds and flower head, respectively, while CtFAD2-2 appears to have relatively low oleate desaturation activity throughout the plant. CtFAD2-5 and CtFAD2-8 are specifically expressed in root tissues, while CtFAD2-3, 4, 6, 7 are mostly expressed in the cotyledons and hypocotyls in young safflower seedlings. CtFAD2-9 was found to encode a novel desaturase operating on C16:1 substrate. CtFAD2-11 is a tri-functional enzyme able to introduce a carbon double bond in either cis or trans configuration, or a carbon triple (acetylenic bond

  5. Low plasma taurine concentration in Newfoundland dogs is associated with low plasma methionine and cyst(e)ine concentrations and low taurine synthesis.

    Science.gov (United States)

    Backus, Robert C; Ko, Kwang Suk; Fascetti, Andrea J; Kittleson, Mark D; Macdonald, Kristin A; Maggs, David J; Berg, John R; Rogers, Quinton R

    2006-10-01

    Although taurine is not dietarily essential for dogs, taurine deficiency and dilated cardiomyopathy (DCM) are sporadically reported in large-breed dogs. Taurine status and husbandry were examined in 216 privately owned Newfoundlands, a giant dog breed with high incidence of idiopathic DCM (1.3-2.5%). Plasma taurine concentration was positively correlated (P ine (r = 0.37) and methionine (r = 0.35) concentrations and was similar across age, sex, neutering status, body weight, and body-condition scores. Plasma taurine concentration was low (ine, tryptophan, and alpha-amino-n-butyric acid concentrations than the other dogs (P ine and blood glutathione, lower (P < 0.01) de novo taurine synthesis (59 +/- 15 vs. 124 +/- 27 mg x kg(-0.75) x d(-1)), and greater (P < 0.05) fecal bile acid excretion (1.7 +/- 0.2 vs. 1.4 +/- 0.2 micromol/g). Newfoundlands would appear to have a higher dietary sulfur amino acid requirement than Beagles, a model breed used in nutrient requirement determinations.

  6. Review of offshore oil-spill prevention and remediation requirements and practices in Newfoundland and Labrador

    International Nuclear Information System (INIS)

    Turner, M.; Skinner, J.; Roberts, J.; Harvey, R.; Ross, S.L

    2010-12-01

    The report studies aspects of the Province of Newfoundland and Labrador's requirements for oil-spill prevention, response and remediation. The Canada-Newfoundland and Labrador Offshore Petroleum Board (C-NLOPB) is responsible and accountable for the industry's meeting its commitments in terms of monitoring, auditing and management. Comparisons with requirements in different regions, such as Norway, the United Kingdom, Australia and the United States demonstrate C-NLOPB practices are sound and comprehensive and meet international standards. Even though the standard established by the Board is high, further improvement is nevertheless needed and the report makes detailed recommendations for bringing this about. The four-tiered industry response system of safe practices:, safety culture, designs, standards and training and competency assurance programs is also augmented and enhanced by the C-NLOPB approval process.

  7. The relationship between weather and caribou productivity for the La-Poile Caribou Herd, Newfoundland

    Directory of Open Access Journals (Sweden)

    Steven H. Ferguson

    1991-10-01

    Full Text Available To describe the relationship between weather and caribou (Rangifer tarandus productivity, we compared weather variables (snow on ground, winter temperature and measures of growing season with measures of productivity (calves seen by hunters, calves and yearlings in the harvest and percent calves and yearlings and pregnancy rate for caribou classified during fall and spring surveys for the LaPoile Caribou Herd in southwestern Newfoundland. Hunter statistics reliably estimated changes in population demography. Percent calves seen by hunters was correlated with calves/100 females classified in fall. Weather may have influenced productivity for the LaPoile Caribou Herd in Newfoundland. Colder winter temperatures were associated with fewer calves the next fall and pregnancy rates and yearlings/100 females in the spring were negatively correlated with snow on ground the previous winter. These relationships appear to be density related.

  8. Consequences of a novel caveolin-3 mutation in a large German family.

    Science.gov (United States)

    Fischer, Dirk; Schroers, Anja; Blümcke, Ingmar; Urbach, Horst; Zerres, Klaus; Mortier, Wilhelm; Vorgerd, Matthias; Schröder, Rolf

    2003-02-01

    Mutations in the human caveolin-3 gene (cav-3) on chromosome 3p25 have been described in limb girdle muscular dystrophy, rippling muscle disease, hyperCKemia, and distal myopathy. Here, we describe the genetic, myopathological, and clinical findings in a large German family harboring a novel heterozygous mutation (GAC-->GAA) in codon 27 of the cav-3 gene. This missense mutation causes an amino acid change from asparagine to glutamate (Asp27Glu) in the N-terminal region of the Cav-3 protein, which leads to a drastic decrease of Cav-3 protein expression in skeletal muscle tissue. In keeping with an autosomal dominant mode of inheritance, this novel cav-3 mutation was found to cosegregate with neuromuscular involvement in the reported family. Ultrastructural analysis of Cav-3-deficient muscle showed an abnormal folding of the plasma membrane as well as multiple vesicular structures in the subsarcolemmal region. Neurological examination of all nine subjects from three generations harboring the novel cav-3 mutation showed clear evidence of rippling muscle disease. However, only two of these nine patients showed isolated signs of rippling muscle disease without muscle weakness or atrophy, whereas five had additional signs of a distal myopathy and two fulfilled the diagnostic criteria of a coexisting limb girdle muscular dystrophy. These findings indicate that mutations in the human cav-3 gene can lead to different and overlapping clinical phenotypes even within the same family. Different clinical phenotypes in caveolinopathies may be attributed to so far unidentified modifying factors/genes in the individual genetic background of affected patients.

  9. [The economic-financial sustainability of the Family Health Strategy in large municipalities].

    Science.gov (United States)

    Portela, Gustavo Zoio; Ribeiro, José Mendes

    2011-03-01

    The universalization of basic care and commitment budget of the Ministry of Health with the Family Health Strategy (ESF) through new systematic financing incentives have been highlighted in the Brazilian health policy scenario. One of the great problems observed is the expansion of the strategy for large urban centres. This paper studies the economic-financial sustainability of ESF in Brazilian municipalities of more than 100 thousand inhabitants according to some selected indicators, considering the geographical region to which they belong, their population size and participation in Project for the Expansion and Consolidation Family Health (Proesf). Municipalities belonging to the Southeast region, more developed of the country, have on average better economic-financial performance, but lower average values of coverage of ESF. Municipalities from the North and Northeast, with the lowest average for economic-financial sustainability indicators, were the ones that made more effort to developments in the period. Thus, we observed the dynamics between bigger fiscal capacity and budgetary commitment with the Health Sector for biggest municipalities and in more economically developed regions, and greater vulnerability and dependence of federative transferences for municipalities with less people, in less developed areas.

  10. Members of a large retroposon family are determinants of post-transcriptional gene expression in Leishmania.

    Directory of Open Access Journals (Sweden)

    Frédéric Bringaud

    2007-09-01

    Full Text Available Trypanosomatids are unicellular protists that include the human pathogens Leishmania spp. (leishmaniasis, Trypanosoma brucei (sleeping sickness, and Trypanosoma cruzi (Chagas disease. Analysis of their recently completed genomes confirmed the presence of non-long-terminal repeat retrotransposons, also called retroposons. Using the 79-bp signature sequence common to all trypanosomatid retroposons as bait, we identified in the Leishmania major genome two new large families of small elements--LmSIDER1 (785 copies and LmSIDER2 (1,073 copies--that fulfill all the characteristics of extinct trypanosomatid retroposons. LmSIDERs are approximately 70 times more abundant in L. major compared to T. brucei and are found almost exclusively within the 3'-untranslated regions (3'UTRs of L. major mRNAs. We provide experimental evidence that LmSIDER2 act as mRNA instability elements and that LmSIDER2-containing mRNAs are generally expressed at lower levels compared to the non-LmSIDER2 mRNAs. The considerable expansion of LmSIDERs within 3'UTRs in an organism lacking transcriptional control and their role in regulating mRNA stability indicate that Leishmania have probably recycled these short retroposons to globally modulate the expression of a number of genes. To our knowledge, this is the first example in eukaryotes of the domestication and expansion of a family of mobile elements that have evolved to fulfill a critical cellular function.

  11. Work-family spillover among Japanese dual-earner couples: a large community-based study

    NARCIS (Netherlands)

    Shimada, K.; Shimazu, A.; Bakker, A.B.; Demerouti, E.; Kawakami, N.

    2010-01-01

    Objectives: To examine the effects of multiple types of work-family spillover (work-to-family negative spillover, WFNS; family-to-work negative spillover, FWNS; and work-family positive spillover, WFPS) on psychological distress among Japanese dual-earner couples with preschool children. Methods:

  12. Canada-Newfoundland Offshore Petroleum Board : annual report 1998/1999

    International Nuclear Information System (INIS)

    1999-01-01

    Financial information from the Canada-Newfoundland Offshore Petroleum Board and a review of their operations was presented. The Board manages the petroleum resources in the Newfoundland Offshore area on behalf of the Canadian Government and the Newfoundland and Labrador Government. The Board ensures that resource development is conducted in accordance with good oilfield practice to optimize recovery and avoid waste. Energy resource activities were summarized. A total of nine offshore seismic surveys were completed during the summer of 1998, the largest acquisition of seismic data in any one year. The surveys recorded 76,000 km of 2-D and 3-D seismic data. The drilling and production activities of the Hibernia field were also reviewed. 24 million bbls of oil were produced from the platform during the 1998 calendar year. The Terra Nova project continues to progress for a first oil target date of late 2000. This report presented an operations review, exploration activity, and consolidated financial statements. Revenue and expenditure statements were summarized by source. tabs., figs

  13. Bald eagle (Haliaeetus leucocephalus population increases in Placentia Bay, Newfoundland: evidence for habitat saturation?

    Directory of Open Access Journals (Sweden)

    Karla R. Letto

    2015-06-01

    Full Text Available Across North America, Bald Eagle (Haliaeetus leucocephalus populations appear to be recovering following bans of DDT. A limited number of studies from across North America have recorded a surplus of nonbreeding adult Bald Eagles in dense populations when optimal habitat and food become limited. Placentia Bay, Newfoundland is one of these. The area has one of the highest densities of Bald Eagles in eastern North America, and has recently experienced an increase in the proportion of nonbreeding adults within the population. We tested whether the observed Bald Eagle population trends in Placentia Bay, Newfoundland during the breeding seasons 1990-2009 are due to habitat saturation. We found no significant differences in habitat or food resource characteristics between occupied territories and pseudo-absence data or between nest sites with high vs. low nest activity/occupancy rates. Therefore there is no evidence for habitat saturation for Bald Eagles in Placentia Bay and alternative hypotheses for the high proportion of nonbreeding adults should be considered. The Newfoundland population provides an interesting case for examination because it did not historically appear to be affected by pollution. An understanding of Bald Eagle population dynamics in a relatively pristine area with a high density can be informative for restoration and conservation of Bald Eagle populations elsewhere.

  14. Several Families of Sequences with Low Correlation and Large Linear Span

    Science.gov (United States)

    Zeng, Fanxin; Zhang, Zhenyu

    In DS-CDMA systems and DS-UWB radios, low correlation of spreading sequences can greatly help to minimize multiple access interference (MAI) and large linear span of spreading sequences can reduce their predictability. In this letter, new sequence sets with low correlation and large linear span are proposed. Based on the construction Trm1[Trnm(αbt+γiαdt)]r for generating p-ary sequences of period pn-1, where n=2m, d=upm±v, b=u±v, γi∈GF(pn), and p is an arbitrary prime number, several methods to choose the parameter d are provided. The obtained sequences with family size pn are of four-valued, five-valued, six-valued or seven-valued correlation and the maximum nontrivial correlation value is (u+v-1)pm-1. The simulation by a computer shows that the linear span of the new sequences is larger than that of the sequences with Niho-type and Welch-type decimations, and similar to that of [10].

  15. A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

    NARCIS (Netherlands)

    Siddiqi, S.; Ismail, M.; Oostrik, J.; Munawar, S.; Mansoor, A.; Kremer, H.; Qamar, R.; Schraders, M.

    2014-01-01

    With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani family suffering from autosomal recessive nonsyndromic hearing impairment (arNSHI). The region on chromosome 19 overlaps with the previously

  16. Family Ratings of Communication Largely Reflect Expressive Language and Conversation-Level Ability in People With Aphasia.

    Science.gov (United States)

    Fucetola, Robert; Tabor Connor, Lisa

    2015-11-01

    Family ratings of communication and social interactions represent an important source of information about people with aphasia. Because of the reliance on family/partner ratings as an outcome measure in many aphasia treatment studies and in the clinic, there is a great need for the validation of commonly used family/partner rating measures, and a better understanding of predictors of family ratings of communication. The communication ability of 130 individuals with aphasia due to neurologic illness was rated by family members/partners on the Communicative Effectiveness Index (CETI; Lomas et al., 1989). Information on aphasia severity, mood, quality of life, nonverbal cognitive functioning, and various demographic factors was collected. Principal component analysis confirmed a 2-factor model best represents the relationships among CETI rating items, and this model largely consists of a conversation-level ability factor. Family ratings were largely predicted by the patient's expressive (not receptive) language but also patient self-perceived quality of communication life. Family/partners typically rate the effectiveness of communication based largely on expressive language, despite the fact that other aspects of the aphasia (e.g., listening comprehension) are as important for everyday communication.

  17. Implications of the Small Spin Changes Measured for Large Jupiter-Family Comet Nuclei

    Science.gov (United States)

    Kokotanekova, R.; Snodgrass, C.; Lacerda, P.; Green, S. F.; Nikolov, P.; Bonev, T.

    2018-06-01

    Rotational spin-up due to outgassing of comet nuclei has been identified as a possible mechanism for considerable mass-loss and splitting. We report a search for spin changes for three large Jupiter-family comets (JFCs): 14P/Wolf, 143P/Kowal-Mrkos, and 162P/Siding Spring. None of the three comets has detectable period changes, and we set conservative upper limits of 4.2 (14P), 6.6 (143P) and 25 (162P) minutes per orbit. Comparing these results with all eight other JFCs with measured rotational changes, we deduce that none of the observed large JFCs experiences significant spin changes. This suggests that large comet nuclei are less likely to undergo rotationally-driven splitting, and therefore more likely to survive more perihelion passages than smaller nuclei. We find supporting evidence for this hypothesis in the cumulative size distributions of JFCs and dormant comets, as well as in recent numerical studies of cometary orbital dynamics. We added 143P to the sample of 13 other JFCs with known albedos and phase-function slopes. This sample shows a possible correlation of increasing phase-function slopes for larger geometric albedos. Partly based on findings from recent space missions to JFCs, we hypothesise that this correlation corresponds to an evolutionary trend for JFCs. We propose that newly activated JFCs have larger albedos and steeper phase functions, which gradually decrease due to sublimation-driven erosion. If confirmed, this could be used to analyse surface erosion from ground and to distinguish between dormant comets and asteroids.

  18. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families

    International Nuclear Information System (INIS)

    Pylkäs, Katri; Erkko, Hannele; Nikkilä, Jenni; Sólyom, Szilvia; Winqvist, Robert

    2008-01-01

    BRCA1 and BRCA2 are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, PALB2 has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families. Altogether 61 index patients of Northern Finnish breast and/or ovarian cancer families were analyzed by Multiplex ligation-dependent probe amplification (MLPA) method in order to identify exon deletions and duplications in BRCA1, BRCA2 and PALB2. The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative. We identified one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer. No large genomic rearrangements were identified in either BRCA2 or PALB2. In Finland, women eligible for BRCA1 or BRCA2 mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in BRCA1. On the contrary, the genomic rearrangements in PALB2 seem not to contribute to the hereditary breast cancer susceptibility

  19. Emergence of switch-like behavior in a large family of simple biochemical networks.

    Directory of Open Access Journals (Sweden)

    Dan Siegal-Gaskins

    2011-05-01

    Full Text Available Bistability plays a central role in the gene regulatory networks (GRNs controlling many essential biological functions, including cellular differentiation and cell cycle control. However, establishing the network topologies that can exhibit bistability remains a challenge, in part due to the exceedingly large variety of GRNs that exist for even a small number of components. We begin to address this problem by employing chemical reaction network theory in a comprehensive in silico survey to determine the capacity for bistability of more than 40,000 simple networks that can be formed by two transcription factor-coding genes and their associated proteins (assuming only the most elementary biochemical processes. We find that there exist reaction rate constants leading to bistability in ∼90% of these GRN models, including several circuits that do not contain any of the TF cooperativity commonly associated with bistable systems, and the majority of which could only be identified as bistable through an original subnetwork-based analysis. A topological sorting of the two-gene family of networks based on the presence or absence of biochemical reactions reveals eleven minimal bistable networks (i.e., bistable networks that do not contain within them a smaller bistable subnetwork. The large number of previously unknown bistable network topologies suggests that the capacity for switch-like behavior in GRNs arises with relative ease and is not easily lost through network evolution. To highlight the relevance of the systematic application of CRNT to bistable network identification in real biological systems, we integrated publicly available protein-protein interaction, protein-DNA interaction, and gene expression data from Saccharomyces cerevisiae, and identified several GRNs predicted to behave in a bistable fashion.

  20. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

    Directory of Open Access Journals (Sweden)

    Yousra Falfoul

    2018-01-01

    Full Text Available To assess the progression of Stargardt (STGD disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull’s eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers. In phenotype 3, diffuse macular, peripapillary, and peripheral RPE atrophy and hyperfluorescent dots were observed in two sisters. In phenotype 4, Stargardt disease-fundus flavimaculatus phenotype was observed in two cousins with later age of onset. After a progression of 9 years, all seven patients displayed the same phenotype 3 with advanced stage STGD and diffuse atrophy. WES and MLPA identified two ABCA4 mutations M1: c.[(?_4635_(5714+?dup; (?_6148_(6479_+? del] and M2: c.[2041C>T], p.[R681∗]. In one branch, the three affected patients had M1/M1 causal mutations and in the other branch the two affected patients had M1/M2 causal mutations. After 9-year follow-up, all patients showed the same phenotypic evolution, confirming the progressive nature of the disease. Genetic variations in the two branches made no difference to similar end-stage disease.

  1. Familiality of co-existing ADHD and tic disorders: evidence from a large sibling study

    Directory of Open Access Journals (Sweden)

    Veit Roessner

    2016-07-01

    Full Text Available AbstractBackground: The association of attention-deficit/hyperactivity disorder (ADHD and tic disorder (TD is frequent and clinically important. Very few and inconclusive attempts have been made to clarify if and how the combination of ADHD+TD runs in families. Aim: To determine the first time in a large-scale ADHD sample whether ADHD+TD increases the risk of ADHD+TD in siblings and, also the first time, if this is independent of their psychopathological vulnerability in general. Methods: The study is based on the International Multicenter ADHD Genetics (IMAGE study. The present sub-sample of 2815 individuals included ADHD-index patients with co-existing TD (ADHD+TD, n=262 and without TD (ADHD-TD, n=947 as well as their 1606 full siblings (n=358 of the ADHD+TD index patients and n=1248 of the ADHD-TD index patients. We assessed psychopathological symptoms in index patients and siblings by using the strength and difficulties questionnaire (SDQ and the parent and teacher Conners’ long version Rating Scales (CRS. For disorder classification the Parental Account of Childhood Symptoms (PACS-Interview was applied in n = 271 children. Odds ratio with the GENMOD procedure (PROCGENMOD was used to test if the risk for ADHD, TD and ADHD+TD in siblings was associated with the related index patients’ diagnoses. In order to get an estimate for specificity we compared the four groups for general psychopathological symptoms.Results: Co-existing ADHD+TD in index patients increased the risk of both comorbid ADHD+TD and TD in the siblings of these index patients. These effects did not extend to general psychopathology. Interpretation: Co-existence of ADHD+TD may segregate in families. The same holds true for TD (without ADHD. Hence, the segregation of TD (included in both groups seems to be the determining factor, independent of further behavioral problems. This close relationship between ADHD and TD supports the clinical approach to carefully assess ADHD in

  2. Work-family spillover among Japanese dual-earner couples: a large community-based study.

    Science.gov (United States)

    Shimada, Kyoko; Shimazu, Akihito; Bakker, Arnold B; Demerouti, Evangelia; Kawakami, Norito

    2010-01-01

    To examine the effects of multiple types of work-family spillover (work-to-family negative spillover, WFNS; family-to-work negative spillover, FWNS; and work-family positive spillover, WFPS) on psychological distress among Japanese dual-earner couples with preschool children. 2,346 parents completed questionnaires measuring work-family spillover, work- and family-specific variables (i.e., job demands and resources, family demands and resources), and psychological distress. A hierarchical multiple regression analysis was conducted by entering demographic characteristics (gender, age, age of the youngest child, and job contract) in step 1, job demands and resources in step 2, family demands and resources in step 3, work-family spillover in step 4, and three two-way interactions between types of work-family spillover and gender in the final step. Both WFNS and FWNS were positively related to psychological distress after controlling for demographic characteristics and domain specific variables (i.e. job and family demands/resources), and FWNS (β=0.26) had a stronger relation with psychological distress than WFNS (β=0.16). Although WFPS was significantly and negatively related to psychological distress, the relationship was weak (β=-0.05). In addition, two-way interactions of WFNS and FWNS with gender were found; the impact of both WFNS and FWNS on psychological distress is stronger for females than for males. No significant interaction effect was observed between WFPS and gender. In this study of Japanese dual-earner couples with preschool children, work-family negative spillover had a stronger relationship with psychological distress than positive spillover. Gender had a moderating effect on the relationship between negative spillover and psychological distress.

  3. Chemical Analysis of Extracts from Newfoundland Berries and Potential Neuroprotective Effects

    Directory of Open Access Journals (Sweden)

    Mohammad Z. Hossain

    2016-10-01

    Full Text Available Various species of berries have been reported to contain several polyphenolic compounds, such as anthocyanins and flavonols, which are known to possess high antioxidant activity and may be beneficial for human health. To our knowledge, a thorough chemical analysis of polyphenolics in species of these plants native to Newfoundland, Canada has not been conducted. The primary objective of this study was to determine the polyphenolic compounds present in commercial extracts from Newfoundland berries, which included blueberries (V. angustifolium, lingonberries (V. vitis-idaea and black currant (Ribes lacustre. Anthocyanin and flavonol glycosides in powdered extracts from Ribes lacustre and the Vaccinium species were identified using the high performance liquid chromatographic (HPLC separation method with mass spectrometric (MS detection. The identified compounds were extracted from dried berries by various solvents via ultrasonication followed by centrifugation. A reverse-phase analytical column was employed to identify the retention time of each chemical component before submission for LC–MS analysis. A total of 21 phenolic compounds were tentatively identified in the three species. Further, we tested the effects of the lingonberry extract for its ability to protect neurons and glia from trauma utilizing an in vitro model of cell injury. Surprisingly, these extracts provided complete protection from cell death in this model. These findings indicate the presence of a wide variety of anthocyanins and flavonols in berries that grow natively in Newfoundland. These powdered extracts maintain these compounds intact despite being processed from berry fruit, indicating their potential use as dietary supplements. In addition, these recent findings and previous data from our lab demonstrate the ability of compounds in berries to protect the nervous system from traumatic insults.

  4. Genetic Discontinuity between the Maritime Archaic and Beothuk Populations in Newfoundland, Canada.

    Science.gov (United States)

    Duggan, Ana T; Harris, Alison J T; Marciniak, Stephanie; Marshall, Ingeborg; Kuch, Melanie; Kitchen, Andrew; Renaud, Gabriel; Southon, John; Fuller, Ben; Young, Janet; Fiedel, Stuart; Golding, G Brian; Grimes, Vaughan; Poinar, Hendrik

    2017-10-23

    Situated at the furthest northeastern edge of Canada, the island of Newfoundland (approximately 110,000 km 2 ) and Labrador (approximately 295,000 km 2 ) today constitute a province characterized by abundant natural resources but low population density. Both landmasses were covered by the Laurentide ice sheet during the Last Glacial Maximum (18,000 years before present [YBP]); after the glacier retreated, ice patches remained on the island until ca. 9,000 calibrated (cal) YBP [1]. Nevertheless, indigenous peoples, whose ancestors had trekked some 5,000 km from the west coast, arrived approximately 10,000 cal YBP in Labrador and ca. 6,000 cal YBP in Newfoundland [2, 3]. Differential features in material culture indicate at least three settlement episodes by distinct cultural groups, including the Maritime Archaic, Palaeoeskimo, and Beothuk. Newfoundland has remained home to indigenous peoples until present day with only one apparent hiatus (3,400-2,800 YBP). This record suggests abandonment, severe constriction, or local extinction followed by subsequent immigrations from single or multiple source populations, but the specific dynamics and the cultural and biological relationships, if any, among these successive peoples remain enigmatic [4]. By examining the mitochondrial genome diversity and isotopic ratios of 74 ancient remains in conjunction with the archaeological record, we have provided definitive evidence for the genetic discontinuity between the maternal lineages of these populations. This northeastern margin of North America appears to have been populated multiple times by distinct groups that did not share a recent common ancestry, but rather one much deeper in time at the entry point into the continent. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  5. Feeding by grey seals in the Gulf of St. Lawrence and around Newfoundland

    Directory of Open Access Journals (Sweden)

    M O Hammill

    2007-01-01

    Full Text Available Diet composition of grey seals in the Gulf of St. Lawrence (Gulf and around the coast of Newfoundland, Canada, was examined using identification of otoliths recovered from digestive tracts. Prey were recovered from 632 animals. Twenty-nine different prey taxa were identified. Grey seals sampled in the northern Gulf of St. Lawrence fed mainly on capelin, mackerel, wolffish and lumpfish during the spring, but consumed more cod, sandlance and winter flounder during late summer. Overall, the southern Gulf diet was more diverse, with sandlance, Atlantic cod, cunner, white hake and Atlantic herring dominating the diet. Capelin and winter flounder were the dominant prey in grey seals sampled from the east coast of Newfoundland, while Atlantic cod, flatfish and capelin were the most important prey from the south coast. Animals consumed prey with an average length of 20.4 cm (Range 4.2-99.2 cm. Capelin were the shortest prey (Mean = 13.9 cm, SE = 0.08, N = 1126, while wolffish were the longest with the largest fish having an estimated length of 99.2 cm (Mean = 59.4, SE = 2.8, N = 63. In the early 1990s most cod fisheries in Atlantic Canada were closed because of the collapse of the stocks. Since then they have shown limited sign of recovery. Diet samples from the west coast of Newfoundland indicate a decline in the contribution of cod to the diet from the pre-collapse to the postcollapse period, while samples from the southern Gulf indicate little change in the contribution of cod.

  6. Energy generated for you : Newfoundland and Labrador Hydro 2003 annual report

    International Nuclear Information System (INIS)

    2004-01-01

    This report provides a consolidated review of the operations of Newfoundland and Labrador Hydro (Hydro) with focus on energy production, energy sales, and environmental commitment. The utility, a Crown Corporation owned by the Province of Newfoundland and Labrador, generates, transmits and distributes electricity to utility, industrial and residential customers. It is the parent company of the Hydro Group of Companies which includes Newfoundland and Labrador Hydro, Churchill Falls Corp. Ltd., Lower Churchill Development Corp. Ltd., Gull Island Power Co. Ltd., and Twin Falls Power Co. Ltd.. The installed generating capacity of the Hydro Group of Companies is the fourth largest in Canada. The generating assets include 10 operating hydroelectric plants, 1 oil-fired plant, 4 gas turbines, 28 diesel plants, and the Churchill Falls Hydroelectric generating station. The utility also maintains 4,800 km of transmission lines and more than 3,600 km of lower voltage distribution lines. The utility is isolated from the North American grid. Energy sales in 2003 were one per cent above 2002. The Holyrood thermal generating station had a gross production of 2061 GWh in 2003, an 18 per cent reduction from 2002. The 40 MW Granite Canal Hydroelectric generating station was completed in 2003. The utility also purchased electricity from Corner Brook Pulp and Paper and the Exploits River Partnership in order to meet the demand for capacity and energy on the island. The Hydro Group's net income decreased by 24 per cent in 2003, while there was a 3 per cent increase in revenue. Earnings are expected to be higher in 2004 due to a projected increase in rates. This annual report presented the company's financial performance, executive changes, rural rate inquiry, and reorganization. Financial statements included a thorough review and analysis of financial transactions, the auditor's report, and the customary notes to the consolidated financial statement including balance sheets, assets

  7. Will the rock roll on : despite newly minted reserve numbers, the future of Newfoundland's offshore remains unsettled

    International Nuclear Information System (INIS)

    Reid, W.

    2006-01-01

    A review of current oil and gas developments in Newfoundland and Labrador was presented. Ongoing oil and gas development in Newfoundland remains fraught with uncertainties, even though the province is economically stable, and its workforce is recognized as one of the most efficient in North America. The Canada-Newfoundland and Labrador Offshore Petroleum Board (CNLOPB) has estimated that the combined hydrocarbon fields in the Jeanne d'Arc Basin in the province contain 2.75 billion barrels of recoverable crude. Among the 3 producing fields in the basin, Hibernia accounted for 1.244 billion barrels. Terra Nova has an estimated 440 million barrels. Husky Energy's White Rose field production reached 100,000 barrels per day in May of 2006. Although the province has promising resources, a 6 month argument over the appointment of a new chairman at the CNLOPB has recently landed before the justices of the Supreme Court of Newfoundland. The controversy centres around developments at Hebron-Ben Nevis, a 731 million barrel heavy oil discovery. One of the partners in the 4-company consortium spearheading the discovery is now unwilling to accept Newfoundland and Labrador's demand for an 8.5 per cent equity interest in the project. The province has refused to give the consortium tax credits and exemptions from fuel taxes, and has sought a royalty regime more substantive than those designed for other developments. Equalization formula issues are also expected to have important consequences in the province, should the federal government decide to follow through on the recommendations of a review panel that half of the province's natural resource revenues should be included in the complex equalization formula. During a local radio show, the premier refused to rule out a referendum on Newfoundland and Labrador independence. 3 figs

  8. Increased rates of cesarean sections and large families: a potentially dangerous combination.

    Science.gov (United States)

    Saleh, Ahmed M; Dudenhausen, Joachim W; Ahmed, Badreldeen

    2017-07-26

    Rates of cesarean sections have been on the rise over the past three decades all over the world, despite the ideal rate of 10-15% that had been set by the World Health Organization (WHO) in 1985, in Fortaleza, Brazil. This epidemic increase in the rate of cesarean delivery is due to many factors which include, cesarean delivery on request, advanced maternal age at first pregnancy, decrease in number of patients who are willing to try vaginal birth after cesarean delivery, virtual disappearance of vaginal breech delivery, perceived increase in the weight of the fetus and increase in the number of women with chronic medical conditions such as Diabetes Mellitus and congenital heart disease in the reproductive age. There is no doubt that cesarean delivery is a safe procedure and it is getting safer and safer for many reasons. However, like all other surgical procedures it is not without risks both to the mother and the new born. There is a substantial increase in the incidence of morbidly adherent placenta and the risk of scar pregnancy. In the Middle East and many African and Asian countries women tend to have large families. The number of previous cesarean section deliveries is directly proportional to the risk of developing morbidly adherent placenta. Morbidly adherent placenta is the most common cause of emergency postpartum hysterectomy, which is often associated with multiple surgical complications, severe maternal morbidity and mortality. The increased rates of cesarean sections lead to increased rates of scar pregnancies, which can have lethal consequences. Cesarean delivery has a negative impact on the infant immune system. This effect on the infant led to the introduction of a new concept called "Vaginal seeding". This refers to the practice of transferring some maternal vaginal fluid to the infant born via cesarean section in an effort to enhance its immune system.

  9. Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family.

    Science.gov (United States)

    Solyom, Szilvia; Winqvist, Robert; Nikkilä, Jenni; Rapakko, Katrin; Hirvikoski, Pasi; Kokkonen, Hannaleena; Pylkäs, Katri

    2011-03-28

    A portion of familial breast cancer cases are caused by mutations in the same genes that are inactivated in the downstream part of Fanconi anemia (FA) signaling pathway. Here we have assessed the FANCA gene for breast cancer susceptibility by examining blood DNA for aberrations from 100 Northern Finnish breast cancer families using the MLPA method. We identified a novel heterozygous deletion, removing the promoter and 12 exons of the gene in one family. This allele was absent from 124 controls. We conclude that FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations. To our knowledge, this is the first study reporting a large deletion in an upstream FA gene in familial breast cancer. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  10. Reconstruction of Oomycete Genome Evolution Identifies Differences in Evolutionary Trajectories Leading to Present-Day Large Gene Families

    NARCIS (Netherlands)

    Seidl, M.F.; Ackerveken, van den G.; Govers, F.; Snel, B.

    2012-01-01

    The taxonomic class of oomycetes contains numerous pathogens of plants and animals but is related to nonpathogenic diatoms and brown algae. Oomycetes have flexible genomes comprising large gene families that play roles in pathogenicity. The evolutionary processes that shaped the gene content have

  11. Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

    NARCIS (Netherlands)

    van Dijk, Fleur S.; Nikkels, Peter G. J.; den Hollander, Nicolette S.; Nesbitt, Isabel M.; van Rijn, Rick R.; Cobben, Jan M.; Pals, Gerard

    2011-01-01

    We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may

  12. Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

    NARCIS (Netherlands)

    Raal, Frederick J.; Sjouke, Barbara; Hovingh, G. Kees; Isaac, Barton F.

    2016-01-01

    These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene

  13. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

    Science.gov (United States)

    Hilgert, N; Kahrizi, K; Dieltjens, N; Bazazzadegan, N; Najmabadi, H; Smith, R J H; Van Camp, G

    2009-04-01

    Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype. To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss. Mutation analysis of all 90 coding exons of GPR98. Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. We identified a new mutation in GPR98 segregating with USH2C in this family. The mutation is a large deletion g.371657_507673del of exons 84 and 85, presumably leading to a frameshift. A large GPR98 deletion of 136 017 bp segregates with USH2C in an Iranian family. To our knowledge, this is only the second report of a GPR98 mutation, and the first report on male subjects with USH2C and a GPR98 mutation.

  14. Typing of Mycobacterium avium subspecies paratuberculosis isolates from Newfoundland using fragment analysis.

    Directory of Open Access Journals (Sweden)

    Milka P Podder

    Full Text Available Short Sequence Repeat (SSR typing of Mycobacterium avium subspecies paratuberculosis (Map isolates is one of the most commonly used method for genotyping this pathogen. Currently used techniques have challenges in analyzing mononucleotide repeats >15 bp, which include some of the Map SSRs. Fragment analysis is a relatively simple technique, which can accurately measure the size of DNA fragments and can be used to calculate the repeat length of the target SSR loci. In the present study, fragment analysis was used to analyze 4 Map SSR loci known to provide sufficient discriminatory power to determine the relationship between Map isolates. Eighty-five Map isolates from 18 animals from the island of Newfoundland were successfully genotyped using fragment analysis. To the best of our knowledge, this is the first report on Map SSR diversity from Newfoundland dairy farms. Previously unreported Map SSR-types or combinations were also identified during the course of the described work. In addition, multiple Map SSR-types were isolated from a single animal in many cases, which is not a common finding.

  15. Sleep Bruxism-Tooth Grinding Prevalence, Characteristics and Familial Aggregation: A Large Cross-Sectional Survey and Polysomnographic Validation

    Science.gov (United States)

    Khoury, Samar; Carra, Maria Clotilde; Huynh, Nelly; Montplaisir, Jacques; Lavigne, Gilles J.

    2016-01-01

    Study Objectives: Sleep bruxism (SB) is characterized by tooth grinding and jaw clenching during sleep. Familial factors may contribute to the occurrence of SB. This study aims are: (1) revisit the prevalence and characteristics of SB in a large cross-sectional survey and assess familial aggregation of SB, (2) assess comorbidity such as insomnia and pain, (3) compare survey data in a subset of subjects diagnosed using polysomnography research criteria. Methods: A sample of 6,357 individuals from the general population in Quebec, Canada, undertook an online survey to assess the prevalence of SB, comorbidities, and familial aggregation. Data on familial aggregation were compared to 111 SB subjects diagnosed using polysomnography. Results: Regularly occurring SB was reported by 8.6% of the general population, decreases with age, without any gender difference. SB awareness is concomitant with complaints of difficulties maintaining sleep in 47.6% of the cases. A third of SB positive probands reported pain. A 2.5 risk ratio of having a first-degree family member with SB was found in SB positive probands. The risk of reporting SB in first-degree family ranges from 1.4 to 2.9 with increasing severity of reported SB. Polysomnographic data shows that 37% of SB subjects had at least one first-degree relative with reported SB with a relative risk ratio of 4.625. Conclusions: Our results support the heritability of SB-tooth grinding and that sleep quality and pain are concomitant in a significant number of SB subjects. Citation: Khoury S, Carra MC, Huynh N, Montplaisir J, Lavigne GJ. Sleep bruxism-tooth grinding prevalence, characteristics and familial aggregation: a large cross-sectional survey and polysomnographic validation. SLEEP 2016;39(11):2049–2056. PMID:27568807

  16. Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

    Directory of Open Access Journals (Sweden)

    Frederick J. Raal

    2016-06-01

    Full Text Available These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, “Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study” (Raal et al., 2016 [1].

  17. Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

    Directory of Open Access Journals (Sweden)

    Semiha Kurt

    2016-01-01

    Full Text Available Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling.

  18. Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

    Directory of Open Access Journals (Sweden)

    Juan Wu

    2014-01-01

    Full Text Available Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP, the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjected to whole exome sequencing. Through bioinformatics analysis and direct sequencing confirmation, we identified p.R135W transition in the rhodopsin gene. The mutation was subsequently confirmed to cosegregate with the disease in the family. In this study, our results suggest that whole exome sequencing is a robust method in diagnosing familial hereditary disease.

  19. Glass Sponges off the Newfoundland (Northwest Atlantic: Description of a New Species of Dictyaulus (Porifera: Hexactinellida: Euplectellidae

    Directory of Open Access Journals (Sweden)

    Francisco Javier Murillo

    2013-01-01

    Full Text Available Three species of hexactinellid sponges: Aphrocallistes beatrix beatrix Gray, Asconema foliata (Fristedt, and Dictyaulus romani sp. n. were collected off the Flemish Cap in the Flemish Pass and from the Grand Banks off the Newfoundland (northwest Atlantic during different surveys on board of Spanish RV Vizconde de Eza and RV Miguel Oliver.

  20. Two new species of true morels from Newfoundland and Labrador: cosmopolitan Morchella eohespera and parochial M. laurentiana

    Science.gov (United States)

    Morphological and molecular phylogenetic studies of true morels (Morchella) in the Canadian province of Newfoundland and Labrador (NL) resulted in the surprising discovery of two undescribed species in the M. elata clade, which we initially distinguished by the informal designations Mel-19 and Mel-3...

  1. BoS: a large and diverse family of short interspersed elements (SINEs) in Brassica oleracea.

    Science.gov (United States)

    Zhang, Xiaoyu; Wessler, Susan R

    2005-05-01

    Short interspersed elements (SINEs) are nonautonomous non-LTR retrotransposons that populate eukaryotic genomes. Numerous SINE families have been identified in animals, whereas only a few have been described in plants. Here we describe a new family of SINEs, named BoS, that is widespread in Brassicaceae and present at approximately 2000 copies in Brassica oleracea. In addition to sharing a modular structure and target site preference with previously described SINEs, BoS elements have several unusual features. First, the head regions of BoS RNAs can adopt a distinct hairpin-like secondary structure. Second, with 15 distinct subfamilies, BoS represents one of the most diverse SINE families described to date. Third, several of the subfamilies have a mosaic structure that has arisen through the exchange of sequences between existing subfamilies, possibly during retrotransposition. Analysis of BoS subfamilies indicate that they were active during various time periods through the evolution of Brassicaceae and that active elements may still reside in some Brassica species. As such, BoS elements may be a valuable tool as phylogenetic makers for resolving outstanding issues in the evolution of species in the Brassicaceae family.

  2. Higher Dietary Choline and Betaine Intakes Are Associated with Better Body Composition in the Adult Population of Newfoundland, Canada.

    Directory of Open Access Journals (Sweden)

    Xiang Gao

    Full Text Available Choline is an essential nutrient and betaine is an osmolyte and methyl donor. Both are important to maintain health including adequate lipid metabolism. Supplementation of dietary choline and betaine increase muscle mass and reduce body fat in animals. However, little data is available regarding the role of dietary choline and betaine on body composition in humans.To investigate the association between dietary choline and betaine intakes with body composition in a large population based cross-sectional study.A total of 3214 subjects from the CODING (Complex Disease in Newfoundland population: Environment and Genetics study were assessed. Dietary choline and betaine intakes were computed from the Willett Food Frequency questionnaire. Body composition was measured using dual-energy X-ray absorptiometry following a 12-hour fast. Major confounding factors including age, sex, total calorie intake and physical activity level were controlled in all analyses.Significantly inverse correlations were found between dietary choline and betaine intakes, with all obesity measurements: total percent body fat (%BF, percent trunk fat (%TF, percent android fat (%AF, percent gynoid fat (%GF and anthropometrics: weight, body mass index, waist circumference, waist-to-hip ratio in both women and men (r range from -0.13 to -0.47 for choline and -0.09 to -0.26 for betaine, p<0.001 for all. Dietary choline intake had stronger association than betaine. Moreover, obese subjects had the lowest dietary choline and betaine intakes, with overweight subjects in the middle, and normal weight subjects consumed the highest dietary choline and betaine (p<0.001. Vice versa, when subjects were ranked according to dietary choline and betaine intakes, subjects with the highest intake of both had the lowest %TF, %AF, %GF, %BF and highest %LM among the groups in both sexes.Our findings indicate that high dietary choline and betaine intakes are significantly associated with favorable body

  3. The Use of Integrated Fluid Inclusion Studies for Constraining Petroleum Charge History at Parsons Pond, Western Newfoundland, Canada

    Directory of Open Access Journals (Sweden)

    James Conliffe

    2017-03-01

    Full Text Available This study, based on fluid inclusion petrography, microthermometry and ultraviolet microspectroscopy of inclusion oil, investigates the petroleum charge history at Parsons Pond, western Newfoundland. To address this matter, drill core and cuttings samples of allochthonous and autochthonous strata in the Parson’s Pond area were collected from three exploration wells. Fluid inclusions were examined from fragments of calcite and quartz veins, diagenetic cements in sandstone, and in large hydrothermal dolomite and calcite crystals. Primary aqueous inclusions in authigenic sandstone cements indicate that cementation occurred at relatively shallow depths and low temperatures (<50 °C. Hydrocarbon-bearing fluid inclusions (petroleum, wet gas and gas are generally restricted to calcite and quartz veins, indicating that petroleum and gas migration at Parson’s Pond is fracture-controlled. No hydrocarbons were observed in the diagenetic cements of the essentially tight sandstones. Fluid inclusion microthermometry and ultraviolet microspectroscopy indicate the presence of multiple generations of hydrocarbon fluid, ranging in composition from ~33 API gravity petroleum to pure CH4. Petrographic evidence suggests that hydrocarbons were generated multiple times during progressive burial and heating. In addition, the distribution of hydrocarbon bearing inclusions with depth suggests that deeper levels are gas-prone, with petroleum confined to relatively shallow depths. Although only gas flow was encountered during the drilling of exploration wells at Parson’s Pond, the presence of petroleum-bearing fluid inclusions in calcite and quartz veins indicates that the historical production from shallow wells in the Parsons Pond area likely tapped small reservoirs of fractured petroliferous strata.

  4. Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

    Science.gov (United States)

    He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan

    2011-03-01

    The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.

  5. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    DEFF Research Database (Denmark)

    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP......-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192......-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXX phi). In whole blood from an affected individual, we found by RT-PCR both the wild...

  6. Impact of non-native terrestrial mammals on the structure of the terrestrial mammal food web of Newfoundland, Canada.

    Directory of Open Access Journals (Sweden)

    Justin S Strong

    Full Text Available The island of Newfoundland is unique because it has as many non-native terrestrial mammals as native ones. The impacts of non-native species on native flora and fauna can be profound and invasive species have been identified as one of the primary drivers of species extinction. Few studies, however, have investigated the effects of a non-native species assemblage on community and ecosystem properties. We reviewed the literature to build the first terrestrial mammal food web for the island of Newfoundland and then used network analyses to investigate how the timing of introductions and trophic position of non-native species has affected the structure of the terrestrial mammal food web in Newfoundland. The first non-native mammals (house mouse and brown rat became established in Newfoundland with human settlement in the late 15th and early 16th centuries. Coyotes and southern red-backed voles are the most recent mammals to establish themselves on the island in 1985 and 1998, respectively. The fraction of intermediate species increased with the addition of non-native mammals over time whereas the fraction of basal and top species declined over time. This increase in intermediate species mediated by non-native species arrivals led to an overall increase in the terrestrial mammal food web connectance and generality (i.e. mean number of prey per predator. This diverse prey base and sources of carrion may have facilitated the natural establishment of coyotes on the island. Also, there is some evidence that the introduction of non-native prey species such as the southern red-backed vole has contributed to the recovery of the threatened American marten. Long-term monitoring of the food web is required to understand and predict the impacts of the diverse novel interactions that are developing in the terrestrial mammal food web of Newfoundland.

  7. Asymmetric rifting, breakup and magmatism across conjugate margin pairs: insights from Newfoundland to Ireland

    Science.gov (United States)

    Peace, Alexander L.; Welford, J. Kim; Foulger, Gillian R.; McCaffrey, Ken J. W.

    2017-04-01

    Continental extension, subsequent rifting and eventual breakup result in the development of passive margins with transitional crust between extended continental crust and newly created oceanic crust. Globally, passive margins are typically classified as either magma-rich or magma-poor. Despite this simple classification, magma-poor margins like the West Orphan Basin, offshore Newfoundland, do exhibit some evidence of localized magmatism, as magmatism to some extent invariably accompanies all continental breakup. For example, on the Newfoundland margin, a small volcanic province has been interpreted near the termination of the Charlie Gibbs Fracture Zone, whereas on the conjugate Irish margin within the Rockall Basin, magmatism appears to be more widespread and has been documented both in the north and in the south. The broader region over which volcanism has been identified on the Irish margin is suggestive of magmatic asymmetry across this conjugate margin pair and this may have direct implications for the mechanisms governing the nature of rifting and breakup. Possible causes of the magmatic asymmetry include asymmetric rifting (simple shear), post-breakup thermal anomalies in the mantle, or pre-existing compositional zones in the crust that predispose one of the margins to more melting than its conjugate. A greater understanding of the mechanisms leading to conjugate margin asymmetry will enhance our fundamental understanding of rifting processes and will also reduce hydrocarbon exploration risk by better characterizing the structural and thermal evolution of hydrocarbon bearing basins on magma-poor margins where evidence of localized magmatism exists. Here, the latest results of a conjugate margin study of the Newfoundland-Ireland pair utilizing seismic interpretation integrated with other geological and geophysical datasets are presented. Our analysis has begun to reveal the nature and timing of rift-related magmatism and the degree to which magmatic asymmetry

  8. bZIPs and WRKYs: two large transcription factor families executing two different functional strategies

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    Carles eMarco Llorca

    2014-04-01

    Full Text Available bZIPs and WRKYs are two important plant transcription factor families regulating diverse developmental and stress-related processes. Since a partial overlap in these biological processes is obvious, it can be speculated that they fulfill non-redundant functions in a complex regulatory network. Here, we focus on the regulatory mechanisms that are so far described for bZIPs and WRKYs. bZIP factors need to heterodimerize for DNA-binding and regulation of transcription, and based on a bioinformatics approach, bZIPs can build up more than the double of protein interactions than WRKYs. In contrast, an enrichment of the WRKY DNA-binding motifs can be found in WRKY promoters, a phenomenon which is not observed for the bZIP family. Thus, the two transcription factor families follow two different functional strategies in which WRKYs regulate each other’s transcription in a transcriptional network whereas bZIP action relies on intensive heterodimerization.

  9. Annotation and analysis of a large cuticular protein family with the R&R Consensus in Anopheles gambiae

    Directory of Open Access Journals (Sweden)

    He Ningjia

    2008-01-01

    Full Text Available Abstract Background The most abundant family of insect cuticular proteins, the CPR family, is recognized by the R&R Consensus, a domain of about 64 amino acids that binds to chitin and is present throughout arthropods. Several species have now been shown to have more than 100 CPR genes, inviting speculation as to the functional importance of this large number and diversity. Results We have identified 156 genes in Anopheles gambiae that code for putative cuticular proteins in this CPR family, over 1% of the total number of predicted genes in this species. Annotation was verified using several criteria including identification of TATA boxes, INRs, and DPEs plus support from proteomic and gene expression analyses. Two previously recognized CPR classes, RR-1 and RR-2, form separate, well-supported clades with the exception of a small set of genes with long branches whose relationships are poorly resolved. Several of these outliers have clear orthologs in other species. Although both clades are under purifying selection, the RR-1 variant of the R&R Consensus is evolving at twice the rate of the RR-2 variant and is structurally more labile. In contrast, the regions flanking the R&R Consensus have diversified in amino-acid composition to a much greater extent in RR-2 genes compared with RR-1 genes. Many genes are found in compact tandem arrays that may include similar or dissimilar genes but always include just one of the two classes. Tandem arrays of RR-2 genes frequently contain subsets of genes coding for highly similar proteins (sequence clusters. Properties of the proteins indicated that each cluster may serve a distinct function in the cuticle. Conclusion The complete annotation of this large gene family provides insight on the mechanisms of gene family evolution and clues about the need for so many CPR genes. These data also should assist annotation of other Anopheles genes.

  10. Effects of religion, economics, and geography on genetic structure of Fogo Island, Newfoundland.

    Science.gov (United States)

    Crawford, M H; Koertevlyessy, T; Huntsman, R G; Collins, M; Duggirala, R; Martin, L; Keeping, D

    1995-01-01

    The population structure of Fogo Island, Newfoundland is described using geography, religious affiliation, economic factors (such as the presence of a fish-packing plant), and genetic markers. Five different analytic methods, R-matrix analysis, r ii VS. mean per locus heterozygosity, predicted kinship (ϕ), mean first passage time, and Mantel matrix comparisons, were applied to the Fogo Island genetic and demographic data. The results suggest that geography plays a role on Fogo Island in the distribution of genes, while religion, ethnicity, and economic factors play less significant roles. The communities with fish-packing plants and tourism serve as migratory "sinks" for Fogo islanders seeking employment. Reproductively, the most isolated village on Fogo Island is Tilting, and this is reflected in its genetic uniqueness, initially caused by Irish settlement and subsequently the action of stochastic processes. © 1995 Wiley-Liss, Inc. Copyright © 1995 Wiley-Liss, Inc., A Wiley Company.

  11. PALLADIUM, PLATINUM, RHODIUM, RUTHENIUM AND IRIDIUM IN PERIDOTITES AND CHROMITITES FROM OPHIOLITE COMPLEXES IN NEWFOUNDLAND.

    Science.gov (United States)

    Page, Norman J; Talkington, Raymond W.

    1984-01-01

    Samples of spinel lherzolite, harzburgite, dunite, and chromitite from the Bay of Islands, Lewis Hills, Table Mountain, Advocate, North Arm Mountain, White Hills Periodite Point Rousse, Great Bend and Betts Cove ophiolite complexes in Newfoundland were analyzed for the platinum-group elements (PGE) Pd, Pt, Rh, Ru and Ir. The ranges of concentration (in ppb) observed for all rocks are: less than 0. 5 to 77 (Pd), less than 1 to 120 (Pt), less than 0. 5 to 20 (Rh), less than 100 to 250 (Ru) and less than 20 to 83 (Ir). Chondrite-normalized PGE ratios suggest differences between rock types and between complexes. Samples of chromitite and dunite show relative enrichment in Ru and Ir and relative depletion in Pt and Pd.

  12. No Association between Visfatin Gene Variants and Metabolic Traits in the Newfoundland Population

    Directory of Open Access Journals (Sweden)

    Jennifer L Shea

    2010-01-01

    Full Text Available Objective Visfatin is a novel adipokine initially reported to exhibit insulin-mimetic effects that increase insulin sensitivity. Further studies indicate it may also be associated with obesity, serum lipids, and systemic inflammation. At the current time, the role of genetic variation in the visfatin gene (NAMPT on these parameters is not clear. In the present study, we examined the association between 10 SNPs in NAMPT and insulin resistance, obesity, serum lipids and hsCRP levels. Research design and methods A total of 1838 subjects (413 men, 1425 women were recruited from the ongoing CODING Study. All subjects were from the genetically homogenous population of Newfoundland and Labrador, Canada. BMI, waist circumference, waist-to-hip ratio, and body fat percentage (determined using DXA were measured for all subjects. Serum glucose, insulin, HOMA IR , HOMAβ, total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides and hsCRP were also determined after a 12-hour fast. Ten SNPs in NAMPT were genotyped using TaqMan validated or functionally tested SNP genotyping assays including rs7789066 (A > G 5′ flanking region, rs3801266 (A > G intron, rs6963243 (G > C intron, rs2058539 (A > C intron, rs6947766 (C > T intron, rs4730153 (G > A intron, rs10808150 (G > A intron, rs2098291 (C > T intron, rs10953502 (T > C intron, and rs10953501 (A > G 3′ UTR. Results We observed no significant associations between any of the variants sites and any parameter of insulin resistance, body composition, serum lipids or hsCRP under an additive model with age and gender included as covariates. This was also true when both dominant and recessive models were applied. Conclusions Our results do not support a significant role for variations in NAMPT with differences in the measured variables in the Newfoundland population.

  13. Synchronous NDVI and Surface Air Temperature Trends in Newfoundland: 1982 to 2003

    Science.gov (United States)

    Neigh, C. S. R.; Tucker, C. J.; Townshend, J. R. G.

    2007-01-01

    The northern regions of the earth are currently experiencing rapid change in temperature and precipitation. This region contains -40% of carbon stored in the world's soil which has accumulated from the last ice age (over 10,000 years ago). The carbon has remained to this point due to reduced decomposition from the short growing seasons and subfreezing temperatures. The influence of climate upon plant growth can have significant consequences to the carbon cycle balance in this region and could potentially alter and release this long term store of carbon to the atmosphere, resulting in a negative feedback enhancing climate warming. These changes have the potential to alter ecosystems processes, which impact human well being. This paper investigated a global satellite record of increases in vegetation growth from 1982 to 2003 developed at GSFC. It was found that, Newfoundland's vegetation growth during the 1990s exceeded global measurements. A number of potential causes were investigated to understand the mechanistic environmental drivers that could alter the productivity of this ecosystem. Possible drivers of change included: human influence of land use change on vegetation cover; changes in precipitation; temperature; cloud cover; snow cover; and growing season length. We found that humans had a minimal influence on vegetation growth in Newfoundland. Less than 6% of the island was logged during the investigation. We found a strong correlation of vegetation growth to a lengthening of the growing season of -9 and -17 days from 1982-1990 and 1991-1999. A distinct drop in plant growth and air temperature was found in 1990 to 1991 from the volcanic eruption of Mt. Pinatubo that reduced global surface air temperatures. These results document the influences of air temperature upon northern forest plant growth and the cooling effects of major volcanic eruptions in this ecological system.

  14. Socio-economic benefits from petroleum industry activity in Newfoundland and Labrador 2003 and 2004

    International Nuclear Information System (INIS)

    2005-11-01

    An update on previous macroeconomic analyses of the impacts of offshore petroleum activities in Newfoundland and Labrador was presented. Details of industry activity and expenditures in Newfoundland and Labrador were presented as well as the resultant direct, indirect and induced economic benefits to the province. Related developments in infrastructure, education, training, and research and development were also provided. It was observed that there was a further consolidation and expansion of the offshore petroleum industry in the province as well as additional growth in its contribution to the province's economy. By 2004, the petroleum industry was responsible for nearly 25 per cent of the province's GDP, with total labour income being 12 per cent higher than it would have been without offshore petroleum industry activity. Significant positive effects were noted in retail sales, the unemployment rate, housing starts and the size of the provincial population. Production activity has become increasingly important, and there has been increased involvement of local companies and individuals in export work, indicating that the petroleum industry is making an important contribution to economic diversification and sustainability. New offshore petroleum activities included the Hebron oilfield project; satellite field developments in the Jeanne d'Arc Basin; exploration in the Orphan Basin and Laurentian Sub-basin; and the development of natural gas reserves using compressed natural gas (CNG) or alternative transportation strategies. Infrastructure, education, training and research and development activities were outlined. It was noted that the low level of exploration in 2003 and 2004 was a matter of concern. It was concluded that a failure to proceed with more recent development projects would be a major blow to the local petroleum industry and the economy as a whole. 2 refs., 2 tabs., 1 fig

  15. The mortality experience of a group of Newfoundland fluorspar miners exposed to Rn progeny

    International Nuclear Information System (INIS)

    Morrison, H.; Semenciw, R.; Mao, Y.; Wigle, D.

    1988-02-01

    A cohort study of the mortality experience (1950-1984) of 1,772 Newfoundland fluorspar miners occupationally exposed to high levels of radon daughters has been conducted using two control groups (surface workers and Newfoundland males). Observed numbers of cancers of the lung, salivary gland and buccal cavity/pharynx were significantly elevated among underground miners. A highly significant relationship was noted between radon daughter exposure and risk of dying of lung cancer; the small numbers of salivary gland (n = 2) and buccal cavity/pharynx cancers (n = 6) precluded meaningful analysis of dose-response. Also significantly elevated among underground miners were deaths from silicosis and pneumoconioses. No statistically significant excess was found for any cause of death among surface workers. Using external controls, attributable and relative risk coefficients for lung cancer were estimated as 6.3 per working level month per million person-years and 0.89 percent per working level month respectively. Attributable risk coefficients were similar to some, but not all related mining studies. Relative risk coefficients were highest for those first exposed attributable risks to non-smokers. Relative risks fell sharply with age at observation whereas attributable risks were lowest in the youngest and oldest age groups. Using the risk coefficients from the present study, a miner exposed for 30 years at 4 WLM per year from age 20 has a risk of 7,366 per 100,000 of dying of lung cancer by age 70 using the relative risk model and a risk of 6,371 per 100,000 using the attributable risk model. This compares to 3,740 per 100,000 for a non-exposed male. 85 refs

  16. Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder.

    Science.gov (United States)

    Zhang, Tianxiao; Hou, Liping; Chen, David T; McMahon, Francis J; Wang, Jen-Chyong; Rice, John P

    2018-03-01

    Bipolar disorder is a mental illness with lifetime prevalence of about 1%. Previous genetic studies have identified multiple chromosomal linkage regions and candidate genes that might be associated with bipolar disorder. The present study aimed to identify potential susceptibility variants for bipolar disorder using 6 related case samples from a four-generation family. A combination of exome sequencing and linkage analysis was performed to identify potential susceptibility variants for bipolar disorder. Our study identified a list of five potential candidate genes for bipolar disorder. Among these five genes, GRID1(Glutamate Receptor Delta-1 Subunit), which was previously reported to be associated with several psychiatric disorders and brain related traits, is particularly interesting. Variants with functional significance in this gene were identified from two cousins in our bipolar disorder pedigree. Our findings suggest a potential role for these genes and the related rare variants in the onset and development of bipolar disorder in this one family. Additional research is needed to replicate these findings and evaluate their patho-biological significance. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs

    Directory of Open Access Journals (Sweden)

    Eduardo Luis de Aquino Neves

    2011-06-01

    Full Text Available Charcot-Marie-Tooth (CMT disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1 or axonal (CMT2. OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.

  18. Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

    Science.gov (United States)

    Tafakhori, Abbas; Yu Jin Ng, Alvin; Tohari, Sumanty; Venkatesh, Byrappa; Lee, Hane; Eskin, Ascia; Nelson, Stanley F; Bonnard, Carine; Reversade, Bruno; Kariminejad, Ariana

    2016-02-01

    TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare cases, additional features such as muscle weakness, peripheral neuropathy, ataxia, cardiomyopathy, dysphagia, dysphonia, cataracts, depression, dementia, parkinsonism, and hearing loss have been reported in association with heterozygous mutations of the TWINKLE gene. We have studied a large Iranian family with myopathy, dysphonia, dysphagia, and behavior change in addition to PEO in affected members. We identified a missense mutation c.1121G > A in the c10orf2 gene in all affected members. Early death is a novel feature seen in affected members of this family that has not been reported to date. The association of PEO, myopathy, dysphonia, dysphagia, behavior change and early death has not been previously reported in the literature or other patients with this mutation.

  19. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

    Science.gov (United States)

    Rafiullah, Rafiullah; Aslamkhan, Muhammad; Paramasivam, Nagarajan; Thiel, Christian; Mustafa, Ghulam; Wiemann, Stefan; Schlesner, Matthias; Wade, Rebecca C; Rappold, Gudrun A; Berkel, Simone

    2016-02-01

    Intellectual disability (ID) is a neurodevelopmental disorder affecting 1%-3% of the population worldwide. It is characterised by high phenotypic and genetic heterogeneity and in most cases the underlying cause of the disorder is unknown. In our study we investigated a large consanguineous family from Baluchistan, Pakistan, comprising seven affected individuals with a severe form of autosomal recessive ID (ARID) and epilepsy, to elucidate a putative genetic cause. Whole exome sequencing (WES) of a trio, including a child with ID and epilepsy and its healthy parents that were part of this large family, revealed a homozygous missense variant p.R53Q in the lectin mannose-binding 2-like (LMAN2L) gene. This homozygous variant was co-segregating in the family with the phenotype of severe ID and infantile epilepsy; unaffected family members were heterozygous variant carriers. The variant was predicted to be pathogenic by five different in silico programmes and further three-dimensional structure modelling of the protein suggests that variant p.R53Q may impair protein-protein interaction. LMAN2L (OMIM: 609552) encodes for the lectin, mannose-binding 2-like protein which is a cargo receptor in the endoplasmic reticulum important for glycoprotein transport. Genome-wide association studies have identified an association of LMAN2L to different neuropsychiatric disorders. This is the first report linking LMAN2L to a phenotype of severe ARID and seizures, indicating that the deleterious homozygous p.R53Q variant very likely causes the disorder. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  20. Maternal intrusiveness, family financial means, and anxiety across childhood in a large multiphase sample of community youth

    Science.gov (United States)

    Cooper-Vince, Christine E.; Pincus, Donna B.; Comer, Jonathan S.

    2013-01-01

    Intrusive parenting has been positively associated with child anxiety, although examinations of this relationship to date have been largely confined to middle to upper middle class families and have rarely used longitudinal designs. With several leading interventions for child anxiety emphasizing the reduction of parental intrusiveness, it is critical to determine whether the links between parental intrusiveness and child anxiety broadly apply to families of all financial means, and whether parental intrusiveness prospectively predicts the development of child anxiety. This study employed latent growth curve analysis to evaluate the interactive effects of maternal intrusiveness and financial means on the developmental trajectory of child anxiety from 1st grade to age 15 in 1,121 children (50.7% male) and their parents from the NICHD SECCYD. The overall model was found to provide good fit, revealing that early maternal intrusiveness and financial means did not impact individual trajectories of change in child anxiety, which were stable from 1st to 5th grade, and then decrease from 5th grade to age 15. Cross-sectional analyses also examined whether family financial means moderated contemporaneous relationships between maternal intrusiveness and child anxiety in 3rd and 5th grades. The relationship between maternal intrusiveness and child anxiety was moderated by family financial means for 1st graders, with stronger links found among children of lower family financial means, but not for 3rd and 5th graders. Neither maternal intrusiveness nor financial means in 1st grade predicted subsequent changes in anxiety across childhood. Findings help elucidate for whom and when maternal intrusiveness has the greatest link with child anxiety and can inform targeted treatment efforts. PMID:23929005

  1. A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family

    Directory of Open Access Journals (Sweden)

    Yi-Hua Yao

    2018-03-01

    Full Text Available AIM: To identify the mutations of MYOC, OPTN, CYP1B1 and WDR36 in a large Chinese family affected by juvenile open angle glaucoma (JOAG. METHODS: Of 114 members of one family were recruited in this study. Blood samples from twelve members of this pedigree were collected for further research. As a control, 100 unrelated subjects were recruited from the same hospital. The exon and flanking intron sequences of candidate genes were amplified using the polymerase chain reaction and direct DNA sequencing. RESULTS: The proband (III:10 was a seventy-three years old woman with binocular JOAG at the age of 31. A recurrent heterozygous mutation (c.1099G>A of MYOC was identified in the three JOAG patients and another suspect. This transition was located in the first base pair of codon 367 (GGA>AGA in exon 3 of MYOC and was predicted to be a missense substitution of glycine to arginine (p.G367R in myocilin. Mutations in OPTN, CYP1B1 or WDR36 were not detected in this study. The G367R mutation was not present in unaffected family members or in 100 ethnically matched controls. Other variants of the coding regions of candidate genes were not detected in all participants. To date, this family was the largest to have been identified as carrying a certain MYOC mutation in China, further evidence of a founder effect for the G367R MYOC mutant was provided by our data. CONCLUSION: A MYOC c.1099G>A mutation in an autosomal dominant JOAG family is identified and the characteristic phenotypes among the patients are summarized. Genetic testing could be utilized in high-risk populations and be helpful not only for genetic counseling, but also for early diagnosis and treatment of affected patients or carriers of inherited JOAG.

  2. Age distribution of human gene families shows significant roles of both large- and small-scale duplications in vertebrate evolution.

    Science.gov (United States)

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

    The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome.

  3. Cbl-family ubiquitin ligases and their recruitment of CIN85 are largely dispensable for epidermal growth factor receptor endocytosis

    Science.gov (United States)

    Ahmad, Gulzar; Mohapatra, Bhopal; Schulte, Nancy A.; Nadeau, Scott; Luan, Haitao; Zutshi, Neha; Tom, Eric; Ortega-Cava, Cesar; Tu, Chun; Sanada, Masashi; Ogawa, Seishi; Toews, Myron L.; Band, Vimla; Band, Hamid

    2014-01-01

    Members of the Casitas B-Lineage Lymphoma (Cbl) family (Cbl, Cbl-b and Cbl-c) of ubiquitin ligases serve as negative regulators of receptor tyrosine kinases (RTKs). An essential role of Cbl-family protein-dependent ubiquitination for efficient ligand-induced lysosomal targeting and degradation is now well-accepted. However, a more proximal role of Cbl and Cbl-b as adapters for CIN85-endophilin recruitment to mediate ligand-induced initial internalization of RTKs is supported by some studies but refuted by others. Overexpression and/or incomplete depletion of Cbl proteins in these studies is likely to have contributed to this dichotomy. To address the role of endogenous Cbl and Cbl-b in the internalization step of RTK endocytic traffic, we established Cbl/Cbl-b double-knockout (DKO) mouse embryonic fibroblasts (MEFs) and demonstrated that these cells lack the expression of both Cbl-family members as well as endophilin A, while they express CIN85. We show that ligand-induced ubiquitination of EGFR, as a prototype RTK, was abolished in DKO MEFs, and EGFR degradation was delayed. These traits were reversed by ectopic human Cbl expression. EGFR endocytosis, assessed using the internalization of 125I-labeled or fluorescent EGF, or of EGFR itself, was largely retained in Cbl/Cbl-b DKO compared to wild type MEFs. EGFR internalization was also largely intact in Cbl/Cbl-b depleted MCF-10A human mammary epithelial cell line. Inducible shRNA-mediated knockdown of CIN85 in wild type or Cbl/Cbl-b DKO MEFs had no impact on EGFR internalization. Our findings, establish that, at physiological expression levels, Cbl, Cbl-b and CIN85 are largely dispensable for EGFR internalization. Our results support the model that Cbl-CIN85-endophilin complex is not required for efficient internalization of EGFR, a prototype RTK. PMID:25449262

  4. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

    Science.gov (United States)

    Brea-Fernández, A J; Cameselle-Teijeiro, J M; Alenda, C; Fernández-Rozadilla, C; Cubiella, J; Clofent, J; Reñé, J M; Anido, U; Milá, M; Balaguer, F; Castells, A; Castellvi-Bel, S; Jover, R; Carracedo, A; Ruiz-Ponte, C

    2014-06-01

    Lynch syndrome (LS) is caused by germline mutations in one of the four mismatch repair (MMR) genes. Defects in this pathway lead to microsatellite instability (MSI) in DNA tumors, which constitutes the molecular hallmark of this disease. Selection of patients for genetic testing in LS is usually based on fulfillment of diagnostic clinical criteria (i.e. Amsterdam criteria or the revised Bethesda guidelines). However, following these criteria PMS2 mutations have probably been underestimated as their penetrances appear to be lower than those of the other MMR genes. The use of universal MMR study-based strategies, using MSI testing and immunohistochemical (IHC) staining, is being one proposed alternative. Besides, germline mutation detection in PMS2 is complicated by the presence of highly homologous pseudogenes. Nevertheless, specific amplification of PMS2 by long-range polymerase chain reaction (PCR) and the improvement of the analysis of large deletions/duplications by multiplex ligation-dependent probe amplification (MLPA) overcome this difficulty. By using both approaches, we analyzed 19 PMS2-suspected carriers who have been selected by clinical or universal strategies and found five large deletions and one frameshift mutation in PMS2 in six patients (31%). Owing to the high incidence of large deletions found in our cohort, we recommend MLPA analysis as the first-line method for searching germline mutations in PMS2. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. A large gene family in fission yeast encodes spore killers that subvert Mendel’s law

    Science.gov (United States)

    Hu, Wen; Jiang, Zhao-Di; Suo, Fang; Zheng, Jin-Xin; He, Wan-Zhong; Du, Li-Lin

    2017-01-01

    Spore killers in fungi are selfish genetic elements that distort Mendelian segregation in their favor. It remains unclear how many species harbor them and how diverse their mechanisms are. Here, we discover two spore killers from a natural isolate of the fission yeast Schizosaccharomyces pombe. Both killers belong to the previously uncharacterized wtf gene family with 25 members in the reference genome. These two killers act in strain-background-independent and genome-location-independent manners to perturb the maturation of spores not inheriting them. Spores carrying one killer are protected from its killing effect but not that of the other killer. The killing and protecting activities can be uncoupled by mutation. The numbers and sequences of wtf genes vary considerably between S. pombe isolates, indicating rapid divergence. We propose that wtf genes contribute to the extensive intraspecific reproductive isolation in S. pombe, and represent ideal models for understanding how segregation-distorting elements act and evolve. DOI: http://dx.doi.org/10.7554/eLife.26057.001 PMID:28631610

  6. Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

    Science.gov (United States)

    Iyadurai, Stanley; Arnold, W David; Kissel, John T; Ruhno, Corey; Mcgovern, Vicki L; Snyder, Pamela J; Prior, Thomas W; Roggenbuck, Jennifer; Burghes, Arthur H; Kolb, Stephen J

    2017-08-01

    Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822G>T mutation in MYH14. In this study we report phenotypic features in a North American family with the c.2822G>T in MYH14. Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN. A total of 11 affected and 7 unaffected individuals were evaluated and showed varying age of onset and severity of weakness. Genotypic concordance was confirmed with molecular analysis. Electrophysiological studies demonstrated distal motor axonal degeneration without myopathy in all affected subjects tested. Mutation of MYH14 can result in a range of neuromuscular phenotypes that includes a dHMN and hearing loss phenotype with variable age of onset. Muscle Nerve 56: 341-345, 2017. © 2016 Wiley Periodicals, Inc.

  7. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion

    Energy Technology Data Exchange (ETDEWEB)

    Shashi, V.; Golden, W.L.; Allinson, P.S. [Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)] [and others

    1996-06-01

    It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. 50 refs., 7 figs., 1 tab.

  8. Application for Approval : White Rose Canada-Newfoundland Benefits Plan and White Rose Development Plan : Decision 2001.01

    International Nuclear Information System (INIS)

    Stanley, H.H.

    2001-01-01

    The White Rose offshore oil development project is located in the Jeanne d'Arc Basin 350 km east of Newfoundland. It is a co-venture between Husky Oil Operations Ltd. and Petro-Canada. The project is expected to recover 230 million barrels of oil over a 12 year period. This report explains the decision of the Canada-Newfoundland Offshore Petroleum Board regarding the application by Husky Oil and its partner for approval of its plans for the development of the White Rose oil field. The White Rose Development Plan describes the proponent's interpretation of the geology and reservoir characteristics of the oil field and provides estimates of hydrocarbon reserves. The drilling approach that the proponents plan to use at their facilities were also described along with the environmental parameters of the facilities. The Board's responsibility is to ensure that hydrocarbons are produced in accordance with good oil field practice including efficient recovery, prevention of waste and safe operational practices. The White Rose Canada-Newfoundland Benefits Plan addresses issues in the areas that will benefit the province, including: an East Coast Regional Office in St. John's, Newfoundland; employment; research and development; goods and services; disadvantaged individuals and groups; and monitoring and reporting. In terms of protection of the environment, the Board makes its assessment under the guidance of the Canadian Environmental Assessment Act which deals with issues such as the effects of routine releases of greenhouse gas emissions, drilling discharges, production discharges and accidental discharges. It also sets rules for decommissioning and abandonment of floating production, storage and off loading vessels and underwater facilities. The Board considered the application and has decided to approve the Benefits Plan, subject to certain conditions described in this report. tabs., figs., appendices

  9. Learning to Voice? The Evolving Roles of Family Farmers in the Coordination of Large-Scale Irrigation Schemes in Morocco

    Directory of Open Access Journals (Sweden)

    Nicolas Faysse

    2010-02-01

    Full Text Available In Morocco, large-scale irrigation schemes have evolved over the past twenty years from the centralised management of irrigation and agricultural production into more complex multi-actor systems. This study analysed whether, and how, in the context of state withdrawal, increased farmer autonomy and political liberalisation, family farmers currently participate in the coordination and negotiation of issues that affect them and involve scheme-level organisations. Issues related to water management, the sugar industry and the dairy sector were analysed in five large-scale irrigation schemes. Farmer organisations that were set up to intervene in water management and sugar production were seen to be either inactive or to have weak links with their constituency; hence, the irrigation administration and the sugar industry continue to interact directly with farmers in a centralised way. Given their inability to voice their interests, when farmers have the opportunity, many choose exit strategies, for instance by resorting to the use of groundwater. In contrast, many community-based milk collection cooperatives were seen to function as accountable intermediaries between smallholders and dairy firms. While, as in the past, family farmers are still generally not involved in decision making at scheme level, in the milk collection cooperatives studied, farmers learn to coordinate and negotiate for the development of their communities.

  10. A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

    Science.gov (United States)

    Uzak, Asli Subasioglu; Tokgoz, Bulent; Dundar, Munis; Tekin, Mustafa

    2013-03-01

    Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and are caused by mutations in the COL4A3 or COL4A4 genes, encoding type IV collagen. Clinical data in a large consanguineous family with four affected members were reviewed, and genomic DNA was extracted. For mapping, 15 microsatellite markers flanking COL4A3, COL4A4, and COL4A5 in 16 family members were typed. For mutation screening, all coding exons of COL4A3 were polymerase chain reaction- amplified and Sanger-sequenced from genomic DNA. The disease locus was mapped to chromosome 2q36.3, where COL4A3 and COL4A4 reside. Sanger sequencing revealed a novel mis-sense mutation (c.2T>C; p.M1T) in exon 1 of COL4A3. The identified nucleotide change was not found in 100 healthy ethnicity-matched controls via Sanger sequencing. We present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease. Although the relationship between the various genotypes and phenotypes in AS has not been fully elucidated, detailed clinical and molecular analyses are helpful for providing data to be used in genetic counseling. It is important to identify new mutations to clarify their clinical importance, to assess the prognosis of the disease, and to avoid renal biopsy for final diagnosis.

  11. Effects of the Terra Nova offshore oil development on benthic macro-invertebrates over 10 years of development drilling on the Grand Banks of Newfoundland, Canada

    Science.gov (United States)

    Paine, Michael D.; DeBlois, Elisabeth M.; Kilgour, Bruce W.; Tracy, Ellen; Pocklington, Patricia; Crowley, Roger D.; Williams, Urban P.; Gregory Janes, G.

    2014-12-01

    This paper describes effects of drilling with water and synthetic-based drilling muds on benthic macro-invertebrates over 10 years at the Terra Nova offshore oil development. As such, the paper provides insight on the effects of relatively new synthetic-based drilling muds (SBMs), and makes an important contribution to our understanding of the long-term chronic effects of drilling on benthic communities. The Terra Nova Field is located approximately 350 km offshore on the Grand Banks of Newfoundland (Canada). Sediment and invertebrate samples were collected in 1997 (baseline) prior to drilling, and subsequently in 2000, 2001, 2002, 2004, 2006, 2008 and 2010. Approximately 50 stations were sampled in each year at distances of less than 1 to approximately 20 km from drill centres. Summary benthic invertebrate community measures examined were total abundance, biomass, richness, diversity and multivariate measures of community composition based on non-Metric Dimensional Scaling (nMDS). Decreases in abundance, biomass and richness were noted at one station located nearest (0.14 km) to a drill centre in some environmental effects monitoring (EEM) years. These decreases coincided with higher levels of tracers of drill muds in sediments (barium and >C10-C21 hydrocarbons). Abundances of selected individual taxa were also examined to help interpret responses when project-related effects on summary measures occurred. Enrichment effects on some tolerant taxa (e.g., the polychaete family Phyllodocidae and the bivalve family Tellinidae) and decreased abundances of sensitive taxa (e.g., the polychaete families Orbiniidae and Paraonidae) were detected to within approximately 1-2 km from discharge source. Lagged responses three to five years after drilling started were noted for Phyllodocidae and Tellinidae, suggesting chronic or indirect effects. Overall, results of benthic community analyses at Terra Nova indicate that effects on summary measures of community composition were

  12. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree

    OpenAIRE

    Bamashmus, M; Downey, L; Inglehearn, C; Gupta, S; Mansfield, D

    2000-01-01

    BACKGROUND/AIMS—Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR.
METHODS—Affected members and obligate gene carriers from this family were examined by slit lamp biomicroscopy, indirect ophthalmos...

  13. R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family

    Science.gov (United States)

    Korvatska, Olena; Leverenz, James B.; Jayadev, Suman; McMillan, Pamela; Kurtz, Irina; Guo, Xindi; Rumbaugh, Malia; Matsushita, Mark; Girirajan, Santhosh; Dorschner, Michael O.; Kiianitsa, Kostantin; Yu, Chang-En; Brkanac, Zoran; Garden, Gwenn A.; Raskind, Wendy H.; Bird, Thomas D.

    2016-01-01

    Importance The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. Objective To investigate a large family with late-onset AD (LOAD), in which R47H cosegregated with 75% of cases. Design, Setting, and Participants This study includes genetic and pathologic studies of families with LOAD from 1985 to 2014. A total of 131 families with LOAD (751 individuals) were included from the University of Washington Alzheimer Disease Research Center. To identify LOAD genes/risk factors in the LOAD123 family with 21 affected members and 12 autopsies, we sequenced 4 exomes. Candidate variants were tested for cosegregation with the disease. TREM2 R47H was genotyped in an additional 130 families with LOAD. We performed clinical and neuropathological assessments of patients with and without R47H and evaluated the variant's effect on brain pathology, cellular morphology, and expression of microglial markers. Main Outcomes and Measures We assessed the effect of TREM2 genotype on age at onset and disease duration. We compared Braak and Consortium to Establish a Registry for Alzheimer's Disease scores, presence of α-synuclein and TAR DNA-binding protein 43 aggregates, and additional vascular or Parkinson pathology in TREM2 R47H carriers vs noncarriers. Microglial activation was assessed by quantitative immunohistochemistry and morphometry. Results Twelve of 16 patients with AD in the LOAD123 family carried R47H. Eleven patients with dementia had apolipoprotein E 4 (ApoE4) and R47H genotypes. We also found a rare missense variant, D353N, in a nominated AD risk gene, unc-5 homolog C (UNC5C), in 5 affected individuals in the LOAD123 family. R47H carriers demonstrated a shortened disease duration (mean [SD], 6.7 [2.8] vs 11.1 [6.6] years; 2-tailed t test; P = .04) and more frequent α-synucleinopathy. The

  14. Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.

    Science.gov (United States)

    Williams, Fred; Hunter, Steven; Bradley, Lisa; Chahal, Harvinder S; Storr, Helen L; Akker, Scott A; Kumar, Ajith V; Orme, Stephen M; Evanson, Jane; Abid, Noina; Morrison, Patrick J; Korbonits, Márta; Atkinson, A Brew

    2014-04-01

    Germline AIP mutations usually cause young-onset acromegaly with low penetrance in a subset of familial isolated pituitary adenoma families. We describe our experience with a large family with R304* AIP mutation and discuss some of the diagnostic dilemmas and management issues. The aim of the study was to identify and screen mutation carriers in the family. Forty-three family members participated in the study. The study was performed in university hospitals. We conducted genetic and endocrine screening of family members. We identified 18 carriers of the R304* mutation, three family members with an AIP-variant A299V, and two family members who harbored both changes. One of the two index cases presented with gigantism and pituitary apoplexy, the other presented with young-onset acromegaly, and both had surgery and radiotherapy. After genetic and clinical screening of the family, two R304* carriers were diagnosed with acromegaly. They underwent transsphenoidal surgery after a short period of somatostatin analog treatment. One of these two patients is in remission; the other achieved successful pregnancy despite suboptimal control of acromegaly. One of the A299V carrier family members was previously diagnosed with a microprolactinoma; we consider this case to be a phenocopy. Height of the unaffected R304* carrier family members is not different compared to noncarrier relatives. Families with AIP mutations present particular problems such as the occurrence of large invasive tumors, poor response to medical treatment, difficulties with fertility and management of pregnancy, and the finding of AIP sequence variants of unknown significance. Because disease mostly develops at a younger age and penetrance is low, the timing and duration of the follow-up of carriers without overt disease requires further study. The psychological and financial impact of prolonged clinical screening must be considered. Excellent relationships between the family, endocrinologists, and

  15. The Late Cambrian SPICE (δ13C) event and the Sauk II-Sauk III regression: new evidence from Laurentian basins in Utah, Iowa, and Newfoundland

    Science.gov (United States)

    Saltzman, Matthew R.; Cowan, Clinton A.; Runkel, Anthony C.; Runnegar, Bruce; Stewart, Michael C.; Palmer, Allison R.

    2004-01-01

    Carbon isotope data from Upper Cambrian sections in three Laurentian basins in northern Utah, central Iowa, and western Newfoundland record a large positive ??13C excursion (SPICE event) of up to + 5???. Peak ??13C ratios are well dated by trilobite collections to the middle of the Steptoean Stage (Dunderbergia Zone) and occur during maximum regression associated with formation of the Sauk II-Sauk III subsequence boundary on the North American craton. Maximum regression was marked by an influx of quartz sand into carbonate-platform settings in all three widely separated basins. In northern Utah, this quartz sand formed a thick sequence known as the Worm Creek Quartzite, which marks a conspicuous interruption of carbonate deposition during the Middle to Late Cambrian in the region. In western Newfoundland, the thickness of the quartz sand unit is much reduced but still marks a brief shutdown of the carbonate factory that is unique to the Cambrian shelf succession of the area. In the central Iowa area of the cratonic interior, an upward-shallowing carbonate succession culminates in cross-stratified trilobite grainstones at the peak of the SPICE in Dunderbergia Zone time, and the lowest point on the relative-sea-level curve is associated with the occurrence of coarse quartz sand derived from the encroaching shoreface. Although it is difficult to determine precisely the departure from baseline ??13C that marks the beginning of the SPICE excursion in the stratigraphic successions analyzed, our results are consistent with a rise and subsequent fall in ??13C tracking a major regressive-transgressive event recorded across northern Laurentia. The correlation of a major ??13C excursion with regression is similar to that described for the Late Ordovician, for which the pattern has been attributed to either increased carbonate relative to terrigenous weathering rates as ice sheets covered up organic-matter-containing silicates at high latitudes or high productivity and organic

  16. Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

    Science.gov (United States)

    Sribudiani, Y; Chauhan, R K; Alves, M M; Petrova, L; Brosens, E; Harrison, C; Wabbersen, T; de Graaf, B M; Rügenbrink, T; Burzynski, G; Brouwer, R W W; IJcken, W F J van; Maas, S M; de Klein, A; Osinga, J; Eggen, B J L; Burns, A J; Brooks, A S; Shepherd, I T; Hofstra, R M W

    2018-03-27

    Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multi-generational family with history of HSCR in a linkage region previously associated with the disease (4q31.3-q32.3) and exome wide. We performed exome sequencing analyses of a family in the Netherlands with 5 members diagnosed with HSCR and 2 members diagnosed with functional constipation. We initially focused on variants in genes located in 4q31.3-q32.3. However, we also performed an exome-wide analysis in which known HSCR or HSCR-associated gene variants predicted to be deleterious were prioritized for further analysis. Candidate genes were expressed in HEK293, COS-7, and Neuro-2a cells and analyzed by luciferase and immunoblot assays. Morpholinos were designed to target exons of candidate genes and injected into 1-cell stage zebrafish embryos. Embryos were allowed to develop and stained for enteric neurons. Within the linkage region, we identified 1 putative splice variant in the LPS responsive beige-like anchor protein gene (LRBA). Functional assays could not confirm its predicted effect on mRNA splicing or on expression of the mab-21 like 2 gene (MAB21L2), which is embedded in LRBA. Zebrafish that developed following injection of the lrba morpholino had a shortened body axis and subtle gut morphological defects, but no significant reduction in number of enteric neurons compared with controls. Outside the linkage region, members of 1 branch of the family carried a previously unidentified RET variant or an in-frame deletion in the glial cell line derived neurotrophic factor gene (GDNF), which encodes a ligand of RET. This deletion was located 6 base pairs before the last codon. We also found variants in the indian hedgehog gene (IHH) and its mediator

  17. Refining the learning process in Newfoundland : E-learning innovation at North Atlantic

    Energy Technology Data Exchange (ETDEWEB)

    Murray, D.

    2001-11-01

    The Learning Technologies in the Workplace Awards were launched by the Conference Board of Canada in April 2001 with funding from Human Resources Development Canada's Office of Learning Technologies. This paper described the innovative and outstanding efforts made by the winner, North Atlantic. The North Atlantic refinery is located on an inlet on the Avalon Peninsula approximately 135 kilometres west of St. John's, Newfoundland. Each day, 105,000 barrels of oil are processed for export to 25 countries. In 1998, the company recognized that better training was required in the areas of improved safety, performance, and employee innovation and capacity. The isolation faced by the employees was a key driver behind the decision to implement the TRAQS training program in 1999 for e-learning developed by Illuminatus. This on-line training program also features testing through CHALLENGE, a software package compatible with TRAQS learning management system. Process emergency simulation exercises were developed by North Atlantic which are now being used externally. Job-specific technical information is delivered through the local area network (LAN). The keys to success were identified as being: innovative organizational culture; vision and action; executive management support, commitment to learning and employee development; positive work life balance; union cooperation; technology intensive workplace; linking learning with work process and performance management; and, tracking and certification.

  18. Arbitrating a fiction: Canadian federalism and the Nova Scotia/Newfoundland and Labrador boundary dispute

    Energy Technology Data Exchange (ETDEWEB)

    Baier, G. [University of British Columbia, Dept. of Political Science, Vancouver, BC(Canada); Groarke, P.

    2003-09-30

    The dispute between the provinces of Nova Scotia and Newfoundland and Labrador, regarding ownership of natural resources to be found in the offshore area lying between the two provinces is discussed. Constitutionally, ownership of offshore natural resources belongs to the federal government. In this instance, the intention was to share control over development and revenues with the provinces through joint management accords, however, a dispute over offshore boundary arose, which eventually resulted in an arbitration tribunal. This paper analyzes the terms of reference for the tribunal and its findings, and concludes that the tribunal process was flawed. The authors cast doubts on the appropriateness of the tribunal's role, the method by which it reached its decision, and the legality of its findings. They conclude that the tribunal merely cloaks a political decision in legal garb since there are no genuine boundaries between the provinces, and the tribunal process simply apportioned federal resources between two provinces. The authors ultimately conclude that by resorting to the tribunal process the federal minister of natural resources was able to avoid political responsibility for making an unpopular decision by relying on a pseudo-judicial body for technical recommendations, and in so doing undermined the legitimacy of the Canadian federal system by obscuring the already murky lines of accountability of the federal and provincial governments. 57 end notes.

  19. Effect of Gene and Physical Activity Interaction on Trunk Fat Percentage Among the Newfoundland Population

    Directory of Open Access Journals (Sweden)

    Anthony Payne

    2014-01-01

    Full Text Available Objective To explore the effect of FTO gene and physical activity interaction on trunk fat percentage. Design and Methods Subjects are 3,004 individuals from Newfoundland and Labrador whose trunk fat percentage and physical activity were recorded, and who were genotyped for 11 single-nucleotide polymorphisms (SNPs in the FTO gene. Subjects were stratified by gender. Multiple tests and multiple regressions were used to analyze the effects of physical activity, variants of FTO , age, and their interactions on trunk fat percentage. Dietary information and other environmental factors were not considered. Results Higher levels of physical activity tend to reduce trunk fat percentage in all individuals. Furthermore, in males, rs9939609 and rs1421085 were significant (α = 0.05 in explaining central body fat, but no SNPs were significant in females. For highly active males, trunk fat percentage varied significantly between variants of rs9939609 and rs1421085, but there is no significant effect among individuals with low activity. The other SNPs examined were not significant in explaining trunk fat percentage. Conclusions Homozygous male carriers of non-obesity risk alleles at rs9939609 and rs1421085 will have significant reduction in central body fat from physical activity in contrast to homozygous males of the obesity-risk alleles. The additive effect of these SNPs is found in males with high physical activity only.

  20. A feasibility study - in vivo measurement of lead 210 in Newfoundland fluorspar miners

    International Nuclear Information System (INIS)

    Davis, M.W.

    1986-02-01

    A feasibility study was attempted to determine if skeletal burdens of Pb210 in Newfoundland fluorspar miners could be measured by in-vivo techniques using phoswich detectors inside a shadow shield. The detection system comprised two 12.7 cm diameter phoswich detectors with 3 mm thick front crystals of NaI (T1 activated) and 5 cm thick back crystals of CsI (T1 activated). Calibration of the system was carried out using a head phantom impregnated with Pb210 and a minimum detection limit of 0.20 nCi in the skull was calculated. Pb210 burdens in the skull and knee were measured in each of two ex-miners who had received radon daughter exposures estimated at 1766 and 1235 Working Level Months (WLM). The last exposures had been 25 and 19 years ago respectively and the Pb210 burdens had decreased to the point where they were undetectable using this technique. The estimated exposures are not inconsistent with the upper limits of exposure calculated using Eisenbud's model and assuming 0.2 nCi skull burdens. Among thirty other potential candidates for a full scale study most had exposures less than 3500 WLM and based on the limited data obtained from this work, results from a full scale study would have significant statistical uncertainties. Unfortunately during the course of this work a negative attitude developed among the candidates and the research had to be stopped prematurely

  1. Factors regulating early life history dispersal of Atlantic cod (Gadus morhua) from coastal Newfoundland.

    Science.gov (United States)

    Stanley, Ryan R E; deYoung, Brad; Snelgrove, Paul V R; Gregory, Robert S

    2013-01-01

    To understand coastal dispersal dynamics of Atlantic cod (Gadus morhua), we examined spatiotemporal egg and larval abundance patterns in coastal Newfoundland. In recent decades, Smith Sound, Trinity Bay has supported the largest known overwintering spawning aggregation of Atlantic cod in the region. We estimated spawning and dispersal characteristics for the Smith Sound-Trinity Bay system by fitting ichthyoplankton abundance data to environmentally-driven, simplified box models. Results show protracted spawning, with sharply increased egg production in early July, and limited dispersal from the Sound. The model for the entire spawning season indicates egg export from Smith Sound is 13%•day(-1) with a net mortality of 27%•day(-1). Eggs and larvae are consistently found in western Trinity Bay with little advection from the system. These patterns mirror particle tracking models that suggest residence times of 10-20 days, and circulation models indicating local gyres in Trinity Bay that act in concert with upwelling dynamics to retain eggs and larvae. Our results are among the first quantitative dispersal estimates from Smith Sound, linking this spawning stock to the adjacent coastal waters. These results illustrate the biophysical interplay regulating dispersal and connectivity originating from inshore spawning of coastal northwest Atlantic.

  2. Factors regulating early life history dispersal of Atlantic cod (Gadus morhua from coastal Newfoundland.

    Directory of Open Access Journals (Sweden)

    Ryan R E Stanley

    Full Text Available To understand coastal dispersal dynamics of Atlantic cod (Gadus morhua, we examined spatiotemporal egg and larval abundance patterns in coastal Newfoundland. In recent decades, Smith Sound, Trinity Bay has supported the largest known overwintering spawning aggregation of Atlantic cod in the region. We estimated spawning and dispersal characteristics for the Smith Sound-Trinity Bay system by fitting ichthyoplankton abundance data to environmentally-driven, simplified box models. Results show protracted spawning, with sharply increased egg production in early July, and limited dispersal from the Sound. The model for the entire spawning season indicates egg export from Smith Sound is 13%•day(-1 with a net mortality of 27%•day(-1. Eggs and larvae are consistently found in western Trinity Bay with little advection from the system. These patterns mirror particle tracking models that suggest residence times of 10-20 days, and circulation models indicating local gyres in Trinity Bay that act in concert with upwelling dynamics to retain eggs and larvae. Our results are among the first quantitative dispersal estimates from Smith Sound, linking this spawning stock to the adjacent coastal waters. These results illustrate the biophysical interplay regulating dispersal and connectivity originating from inshore spawning of coastal northwest Atlantic.

  3. Effects of an oil spill on American lobster (Homarus americanus) from Placentia Bay, Newfoundland

    Energy Technology Data Exchange (ETDEWEB)

    Wiliams, U P; Kiceniuk, J W; Ryder, J E; Botta, J R

    1988-10-01

    In March 1988 an accidental spill of ca 500 bbl of crude oil occurred during the unloading of a tanker at a Newfoundland oil refinery. Studies of selected parameters were undertaken to determine the possible short-and long-term effects on the local lobster fishery. Sensory analyses were carried out to ascertain the effects of the oil on the taste and odor of lobster. Lobster muscle and hepatopancreas were analyzed for PAH (polycyclic aromatic hydrocarbon) content and levels of gill browning were determined. Sediments were sampled at various locations in the bay where the spill occurred and levels of PAHs were determined in an attempt to delineate the extent of contamination. Results from the sensory analyses indicate that there was no tainting of lobster samples obtained from the area. There was also no evidence of gill browning or of elevated levels of PAHs in either tail muscle or hepatopancreas. Elevated levels of PAH were not detected in any of the sediments from the bay. The results indicate that lobsters were not contaminated as a result of the oil spill. Based on the results of analyses of sediments for PAHs, future contamination, as a result of the spill at the oil refinery wharf, is not anticipated. 18 refs., 6 tabs.

  4. The power of commitment : Newfoundland and Labrador Hydro 2000 annual report

    International Nuclear Information System (INIS)

    2000-01-01

    A consolidated review of the operations of Newfoundland and Labrador Hydro (Hydro) was presented with particular focus on energy production, energy sales, the Avalon Transmission upgrade, development of the Granite Canal and Hydro's dam safety program. Hydro reported a 4.5 per cent increase in gross energy production at their generating plants throughout the system. Production from hydro sources also increased by 4.5 per cent to a total of 5,032 GWh. Thermal production from the Holyrood generating facility also increased slightly to 1,040 GWh. Production for peaking and emergency requirements from gas turbines and diesel plants dropped to 0.6 GWh. In 2000, about 83 per cent of all the energy supplied to their customers came from hydro sources. Total energy sales were up 4.6 per cent during 2000. This annual report presented the company's financial performance, executive changes, rural rate inquiry, and reorganization. Financial statements included a thorough review and analysis of financial transactions, the auditor's report, and the customary notes to the consolidated financial statement including balance sheets, assets, liabilities and capital. tabs., figs

  5. A large family of antivirulence regulators modulates the effects of transcriptional activators in Gram-negative pathogenic bacteria.

    Directory of Open Access Journals (Sweden)

    Araceli E Santiago

    2014-05-01

    Full Text Available We have reported that transcription of a hypothetical small open reading frame (orf60 in enteroaggregative E. coli (EAEC strain 042 is impaired after mutation of aggR, which encodes a global virulence activator. We have also reported that the cryptic orf60 locus was linked to protection against EAEC diarrhea in two epidemiologic studies. Here, we report that the orf60 product acts as a negative regulator of aggR itself. The orf60 protein product lacks homology to known repressors, but displays 44-100% similarity to at least fifty previously undescribed small (<10 kDa hypothetical proteins found in many gram negative pathogen genomes. Expression of orf60 homologs from enterotoxigenic E. coli (ETEC repressed the expression of the AraC-transcriptional ETEC regulator CfaD/Rns and its regulon in ETEC strain H10407. Complementation in trans of EAEC 042orf60 by orf60 homologs from ETEC and the mouse pathogen Citrobacter rodentium resulted in dramatic suppression of aggR. A C. rodentium orf60 homolog mutant showed increased levels of activator RegA and increased colonization of the adult mouse. We propose the name Aar (AggR-activated regulator for the clinically and epidemiologically important orf60 product in EAEC, and postulate the existence of a large family of homologs among pathogenic Enterobacteriaceae and Pasteurellaceae. We propose the name ANR (AraC Negative Regulators for this family.

  6. Economic incentives of family controlling shareholders and the monitoring role of non-dominant large shareholders in corporate governance: Evidence from the manufacturing firms in Malaysia

    Directory of Open Access Journals (Sweden)

    Chin Fei Goh

    2014-08-01

    Full Text Available This article explores the economic incentives of dominant controlling shareholders with regard to the expropriation of minority shareholders, on the one hand, and the monitoring role of non-dominant large shareholders in family firms, on the other. The authors argue that family controlling shareholders (or family owners do not share common interests with other shareholders. Drawing on 141 family firms in the manufacturing sector that were listed on Bursa Malaysia (the Malaysian stock exchange from 2003 to 2006, the article finds an inverted U-shaped relationship between excess control rights and a firm's market performance. The findings also show that both the cash flow rights (i.e. claims on cash payouts of family controlling shareholders and the presence of non-dominant large shareholders with the ability to contest control of the firm have a positive relationship with market performance.  This study contributes to the literature by indicating that family owners are unlikely to collude with other large shareholders to expropriate minority shareholders. Furthermore, low levels of excess family-owner control rights are beneficial for market performance because firms may benefit from group affiliations and receive patronage from wealthy owners. However, high levels of excess control rights are understood to be an economic incentive for family owners to expropriate minority shareholders during non-crisis periods.

  7. Structure across the northeastern margin of Flemish Cap, offshore Newfoundland from Erable multichannel seismic reflection profiles: evidence for a transtensional rifting environment

    Science.gov (United States)

    Welford, J. Kim; Hall, Jeremy; Sibuet, Jean-Claude; Srivastava, Shiri P.

    2010-11-01

    We present the results from processing and interpreting nine multichannel seismic reflection lines collected during the 1992 Erable experiment over the northeastern margin of Flemish Cap offshore Newfoundland. These lines, combined into five cross-sections, provide increased seismic coverage over this lightly probed section of the margin and reveal tectonically significant along-strike variations in the degree and compartmentalization of crustal thinning. Similar to the southeastern margins of Flemish Cap and the Grand Banks, a transitional zone of exhumed serpentinized mantle is interpreted between thinned continental and oceanic crust. The 25 km wide transitional zone bears similarities to the 120 km wide transitional zone interpreted as exhumed serpentinized mantle on the conjugate Irish Atlantic margin but the significant width difference is suggestive of an asymmetric conjugate pair. A 40-50 km wide zone of inferred strike-slip shearing is interpreted and observed to extend along most of the northeastern margin of Flemish Cap. Individual shear zones (SZs) may represent extensions of SZs and normal faults within the Orphan Basin providing further evidence for the rotation and displacement of Flemish Cap out of Orphan Basin. The asymmetry between the Flemish Cap and Irish conjugate pairs is likely due in large part to the rotation and displacement of Flemish Cap which resulted in the Flemish Cap margin displaying features of both a strike-slip margin and an extensional margin.

  8. Assessing the validity of a self-administered food-frequency questionnaire (FFQ) in the adult population of Newfoundland and Labrador, Canada

    Science.gov (United States)

    2013-01-01

    Background The Food- Frequency Questionnaire (FFQ) is a dietary assessment tool frequently used in large-scale nutritional epidemiology studies. The goal of the present study is to validate a self-administered version of the Hawaii FFQ modified for use in the general adult population of Newfoundland and Labrador (NL). Methods Over a one year period, 195 randomly selected adults completed four 24-hour dietary recalls (24-HDRs) by telephone and one subsequent self-administered FFQ. Estimates of energy and nutrients derived from the 24-HDRs and FFQs were compared (protein, carbohydrate, fibre, fat, vitamin A, carotene, vitamin D, and calcium). Data were analyzed using the Pearson’s correlation coefficients, cross-classification method, and Bland–Altman plots. Results The mean nutrient intake values of the 24-HDRs were lower than those of the FFQs, except for protein in men. Sex and energy-adjusted de-attenuated Pearson correlation coefficients for each nutrient varied from 0.13 to 0.61. Except for protein in men, all correlations were statistically significant with p food consumption in the general adult population of NL. This tool can be used to classify individual energy and nutrient intakes into quartiles, which is useful in examining relationships between diet and chronic disease. PMID:23590645

  9. Issues and Methodologies in Large-Scale Assessments. Special Issue 2: Measuring Students' Family Background in Large-Scale International Education Studies. IERI Monograph Series

    Science.gov (United States)

    Brese, Falk; Mirazchiyski, Plamen

    2013-01-01

    The relationship between students' family background and achievement is often seen as an important topic in regard to equality and equity of educational provision. The results of various education studies show that the family background of students correlates with students' academic achievement at school. This paper focuses on the measurement of…

  10. A New Oceanic Anoxic Event 2 record from the Central North Atlantic at South East Newfoundland Ridge, IODP Expedition 342, Newfoundland Drifts

    Science.gov (United States)

    Junium, C. K.; Bornemann, A.; Bown, P. R.; Friedrich, O.; Moriya, K.; Kirtland Turner, S.; Whiteside, J. H.

    2013-12-01

    The recovery of Cretaceous, Cenomanian-Turonian black shales deposited during Oceanic Anoxic Event 2 (OAE 2) at Site U1407, South East Newfoundland Ridge (SENR), was an unexpected but fortuitous discovery that fills a gap in the pelagic Tethyan and North Atlantic geologic records. Drilling operations recovered the OAE sequence in all three holes drilled at Site U1407 defined initially on the basis of lithology and calcareous nannofossil biostratigraphy and confirmed by carbon isotope stratigraphy post-expedition. The SENR OAE 2 sequence is a classic chalk sequence punctuated by a prominent black band. Prior to OAE 2, greenish white pelagic carbonate is interrupted by thin, 2 to 5 cm thick organic-rich, gray calcareous clays. A sharp transition from greenish-white chalk to carbonate-poor sediments marks the occurrence of the organic carbon-rich black band. Within the black band are finely laminated to massive, pyritic black shales and laminated gray clays that are relatively organic carbon-lean, free of preserved benthic foraminifera and rich in radiolarians. Finely laminated greenish-gray marls overlay the black band and grade into approximately 1 meter of greenish white chalks with common 1cm chert layers and nodules. The remainder of the Turonian sequence is characterized by a notable transition to pink chalks. The thickness of the black band ranges from 15-40 cm between Holes A through C. The differences in the thickness of beds between Holes is due in part to drilling disturbances and mass wasting indicated by slump features in the overlying Turonian strata. Core scanning XRF and carbon isotopes can help resolve the nature of these differences and inform future sampling and study. Carbonate and organic carbon isotopes reveal that the δ13C excursion marking the initiation of OAE 2 is below the base of the black band. At U1407A the δ13C rise is immediately below (3 cm) the black shale, with δ13C maxima in the black band. At U1407C the initial δ13C rise is

  11. Chlamydia abortus YhbZ, a truncated Obg family GTPase, associates with the Escherichia coli large ribosomal subunit.

    Science.gov (United States)

    Polkinghorne, Adam; Vaughan, Lloyd

    2011-01-01

    The stringent stress response is vital for bacterial survival under adverse environmental conditions. Obligate intracellular Chlamydia lack key stringent response proteins, but nevertheless can interrupt the cell cycle and enter stasis or persistence upon amino acid starvation. A possible key protein retained is YhbZ, a homologue of the ObgE guanosine triphosphatase (GTPase) superfamily connecting the stringent stress response to ribosome maturation. Curiously, chlamydial YhbZ lacks the ObgE C-terminal domain thought to be essential for binding the large ribosomal subunit. We expressed recombinant Chlamydia abortus YhbZ and showed it to be a functional GTPase, with similar activity to other Obg GTPase family members. As Chlamydia are resistant to genetic manipulation, we performed heterologous expression and gradient centrifugation experiments in Escherichia coli and found that, despite the missing C-terminal domain, C. abortus YhbZ co-fractionates with the E. coli 50S large ribosomal subunit. In addition, overexpression of chlamydial YhbZ in E. coli leads to growth defects and elongation, as reported for other Obg members. YhbZ did not complement an E. coli obgE temperature-sensitive mutant, indicating the C-terminal acidic domain may have an additional role. This data supports a role for YhbZ linking the chlamydial stress response to ribosome function and cellular growth. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

    Science.gov (United States)

    San Román-Monserrat, Irene; Moreno-Flores, Victoria; López-Cuenca, David; Rodríguez-González-Herrero, Elena; Guillén-Navarro, Encarna; Rodríguez-González-Herrero, Beatriz; Alegría-Fernández, Marisol; Poza-Cisneros, Gabriela; Piñero-Fernández, Juan A; Sornichero-Martínez, Javier; Gimeno-Blanes, Juan R

    2014-06-06

    Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. 4 males and 13 heterozygous-females displayed the mutation. Cardiac/renal/neurological disease was diagnosed at a mean age of 41/29/39 years in males and 51/56/46 years in females. Onset mean age was 20 years versus 42 years. 9/15 had cardiomyopathy. Delta wave suggestive of accessory pathway was identified in 1 male and 2 females. 1 female had cardiac arrest (ventricular fibrillation, 61 years). 2 females and 1 male died suddenly (63, 64 and 57 years). Cardiac-subscore of Mainz Severity-Score-Index was severe for males and females over 40 years. 4/15(26%) developed early renal disease. 2 males needed dialysis. 1 male died at 69 years in spite of kidney-heart transplant. We describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  13. Proceedings of the Newfoundland Ocean Industries Association's 20. Annual International Petroleum Conference : East Coast Canada : Success in a challenging environment. On-line ed.

    International Nuclear Information System (INIS)

    2004-01-01

    This conference organized by the Newfoundland Ocean Industries Association (NOIA) provided a forum for exchange on issues dealing with Canada's east coast offshore hydrocarbon resource development. It also promoted Newfoundland's international reputation for competence in ocean engineering and marine dynamics. The topics of discussion at this conference included updates on the development of Newfoundland's Grand Banks which includes the Terra Nova, Hibernia, White Rose, and the Hebron/Ben Nevis oil and gas fields. Several papers described new initiatives in the Atlantic offshore sector, including deep water challenges and opportunities. A session devoted to competitiveness and technology focused on reducing drilling costs and enhancing productivity. Regulatory and fiscal issues were also discussed along with the socio-economic impact that resource development can bring to Canada's east coast. The conference featured 22 presentations, of which 9 have been indexed separately for inclusion in this database. tabs., figs

  14. Preliminary isostatic residual gravity map of the Newfoundland Mountains 30' by 60' quadrangle and east part of the Wells 30' by 60' quadrangle, Box Elder County, Utah

    Science.gov (United States)

    Langenheim, Victoria; Athens, N.D.; Churchel, B.A.; Willis, H.; Knepprath, N.E.; Rosario, Jose J.; Roza, J.; Kraushaar, S.M.; Hardwick, C.L.

    2013-01-01

    A new isostatic residual gravity map of the Newfoundland Mountains and east of the Wells 30×60 quadrangles of Utah is based on compilation of preexisting data and new data collected by the Utah and U.S. Geological Surveys. Pronounced gravity lows occur over Grouse Creek Valley and locally beneath the Great Salt Lake Desert, indicating significant thickness of low-density Tertiary sedimentary rocks and deposits. Gravity highs coincide with exposures of dense pre-Cenozoic rocks in the Newfoundland, Silver Island, and Little Pigeon Mountains. Gravity values measured on pre-Tertiary basement to the north in the Bovine and Hogup Mountains are as much as 10mGal lower. Steep, linear gravity gradients may define basin-bounding faults concealed along the margins of the Newfoundland, Silver Island, and Little Pigeon Mountains, Lemay Island and the Pilot Range.

  15. Assessment of proposals related to oil spill risk for the south coast of Newfoundland

    International Nuclear Information System (INIS)

    2010-01-01

    A study was conducted in 2006 to quantify the present and future risks of oil pollution in Canadian waters off the south coast of Newfoundland due to marine traffic transiting this area. The study methodology included as assessment of the key components of risk, such as the probability of an oil spill occurring and the consequences of the spill should it occur. Key elements that were identified were stakeholder consultation; oil spill frequency; environmental impact assessment; risk results; area specific factors; and future trends. One of the key findings was that the most probable area for a spill was in inner Placentia Bay. Local and regional interests in the area resulted in 25 proposals for spill prevention, response and research. This paper provided a background discussion for each proposal and where relevant, a description of the status quo, and a rationale for implementing, or not implementing the proposal. Proposals for spill prevention consisted of strategies for vessel traffic; vessel instrumentation; use of double hulls; aerial surveillance program; control enforcement; additional radar monitoring; pilotage for long harbours; and escort and rescue tugs. Proposals for spill response consisted of designating places of refuge; location of response equipment; additional response capability; response time standards; designating waste handling sites; bird rescue and rehabilitation; testing of equipment cascading; training of fishermen for first response; and first responder equipment. Oil spill research proposals consisted of research on ecosystem effects; research on response priorities; representative oil spill scenarios; and emergency management plans. General category proposals were also submitted, and dealt primarily with independent oversight committees; consultations with pilots; and occurrence of mystery spills and bilge dumps. 1 tab.

  16. The Fish Assemblage of a Newfoundland Estuary: Diel, Monthly and Annual Variation

    Science.gov (United States)

    Methven, D. A.; Haedrich, R. L.; Rose, G. A.

    2001-06-01

    Twice monthly sampling over two 16 month periods at a shallow site on Newfoundland's east coast showed the fish assemblage to be dominated by four taxa ( Gasterosteus aculeatus, G. wheatlandi, Osmerus mordax, Gadus spp.) that accounted for 96% of the individuals collected. Of the 16 479 fish measured, 65% were adults based on the estimated size of first spawning. The fish assemblage was dominated (86%) by species with demersal eggs, several of which spawn at the same shallow sites used by juveniles as nursery sites. Coastal spawning and demersal eggs maintain offspring in coastal nursery areas where survival is thought to be increased. Number of species and number of fish were both correlated with water temperature being highest from mid-summer to early autumn and lowest in winter. Temperature, time of spawning, and movements of juveniles and adults facilitated grouping species into five assemblages based on seasonal abundance: seasonal periodic species (summer and winter), regular species, regular species collected in all seasons except winter, and occasional (rare) species. At the diel scale, two consistent species groupings were observed: species that showed no significant difference between day and night and species caught primarily at night. Number of night species exceeded day species by a factor of two. No seine-caught species in shallow water exhibited significantly higher catches during the day. Observations by SCUBA divers indicated some species were more abundant during day time at slightly deeper depths. This observation in conjunction with day and night seining in shallower water, suggests these species aggregate in deeper water during day and move to shallow waters at night.

  17. Biological treatment processes for PCB contaminated soil at a site in Newfoundland

    International Nuclear Information System (INIS)

    Punt, M.; Cooper, D.; Velicogna, D.; Mohn, W.; Reimer, K.; Parsons, D.; Patel, T.; Daugulis, A.

    2002-01-01

    SAIC Canada is conducting a study under the direction of a joint research and development contract between Public Works and Government Services Canada and Environment Canada to examine the biological options for treating PCB contaminated soil found at a containment cell at a former U.S. Military Base near Stephenville, Newfoundland. In particular, the study examines the feasibility of using indigenous microbes for the degradation of PCBs. The first phase of the study involved the testing of the microbes in a bioreactor. The second phase, currently underway, involves a complete evaluation of possible microbes for PCB degradation. It also involves further study into the biological process options for the site. Suitable indigenous and non-indigenous microbes for PCB dechlorination and biphenyl degradation are being identified and evaluated. In addition, the effectiveness and economics of microbial treatment in a conventional bioreactor is being evaluated. The conventional bioreactor used in this study is the two-phase partitioning bioreactor (TPPB) using a biopile process. Results thus far will be used to help Public Works and Government Services Canada to choose the most appropriate remedial technology. Preliminary results suggest that the use of soil classification could reduce the volume of soil requiring treatment. The soil in the containment cell contains microorganisms that could grow in isolation on biphenyl, naphthalene and potentially Aroclor 1254. Isolated native microbes were inoculated in the TPPB for growth. The TPPB was also run successfully under anaerobic conditions. Future work will involve lab-scale evaluation of microbes for PCB dechlorination and biphenyl degradation using both indigenous and non-indigenous microbes. The next phase of study may also involve field-scale demonstration of treatment methods. 2 refs., 3 tabs., 5 figs

  18. Estimating the value of the marine, coastal and ocean resources of Newfoundland and Labrador (for the period 1997 to 1999)

    International Nuclear Information System (INIS)

    2002-03-01

    More than 90 per cent of Newfoundland and Labrador's population lives adjacent to, or just a few kilometres from the ocean. An increased use of coastal resources has prompted this study which estimated the economic value of the oceans sector to Newfoundland and Labrador's economy. The study included the reference period 1997 to 1999 with private sector industries as well as federal and provincial public sector oceans-related departments and agencies. Private sector industries included oil and gas, fishery, aquaculture, shipbuilding, marine tourism, marine transportation and ocean technologies. Estimating the economic value of the oceans sector is important for policy development and management decisions at the federal and provincial level and for better understanding the contributions of industry. The indicators used in the study included the Gross Domestic Product (GDP) impact, labour income impact, and employment impact. The economic impacts were separated into direct, indirect and induced impacts. The primary data was used to determine direct economic impact of the oceans sector. Then, the Newfoundland and Labrador Econometric Model and the Input-Output Model was used to determine the indirect and induced impacts of the oceans sector. The total GDP impact averaged about $2.59 billion, or 26.5 per cent of total economic activity. The most significant private sector industries, in terms of total GDP impact were offshore oil at 11.9 per cent of GDP, and the fishery at 8.2 per cent. The direct employment impact of ocean-related activity averaged about 12.7 per cent of total employment. Data tables and data sources were included in the appendices. refs., tabs., figs., appendices

  19. An analysis of the economic impact of non-pipeline options for developing Newfoundland's offshore natural gas resources

    International Nuclear Information System (INIS)

    Locke, W.; Millan, S.; Rodgers, B.

    2001-06-01

    The technical and economic feasibility of four non-pipeline development options for Newfoundland's offshore natural gas resources are examined. The options are: compressed natural gas (CNG) that is incremental to FPSO oil development (CNG FPSO Incremental); CNG as part of a Grand Bank System Gas Hub( CNG GBS Gas Hub); liquefied natural gas (LNG) that is incremental to FPSO oil development (LNG FPSO Incremental) and combined Fischer-Tropsch (gas-to-liquid technology) that is incremental to FPSO oil development (combined methanol/F-T). The economic impacts of each development option were considered in terms of project viability, employment and income impacts created through the supply of goods and services, employment effects resulting from project expenditures, incomes generated to Newfoundland factors of production, GDP impacts, and provincial treasury impacts, net of equalization losses. Results indicate that the largest employment and income impacts on the Newfoundland economy would be generated by the CNG GBS Gas Hub option (2,000 person-years of employment per year and $110 million income annually). The other three cases provide an equivalent level of benefits with an annual average of 1,650 person-years of employment and $90 million in incomes to business and labour. Each option is expected to generate between $16 and $21 million per annum to the Newfoundland treasury, net of equalization losses. GDP impacts are also close for all all four options, and provide no basis for preference of any option. In terms of project viability, the CNG FPSO Incremental option is considered by far the most attractive with a 33.7 per cent rate of return and a net present value of $1 billion, followed by the CNG GBS Gas Hub option at 18.3 per cent rate of return and a net present value of $317 million. The LNG FPSO incremental option has an internal rate of return of 17.8 per cent and a net present value of $263 million. The combined methanol/F-T option is not considered

  20. The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24

    DEFF Research Database (Denmark)

    Rudkjøbing, Laura Aviaja; Eiberg, Hans; Mikkelsen, Hanne Birte

    2015-01-01

    Hereditary colorectal cancer accounts for approximately 30 % of all colorectal cancers, but currently only 5 % of these families can be explained by highly penetrant, inherited mutations. In the remaining 25 % it is not possible to perform a gene test to identify the family members who would...... benefit from prophylactic screening. Consequently, all family members are asked to follow a screening program. The purpose of this study was to localize a new gene which causes colorectal cancer. We performed a linkage analysis using data from a SNP6.0 chip in one large family with 12 affected family...... areas on chromosome 2 and chromosome 11 with the highest possible LOD scores of 2.6. Two other studies have identified 11q24 as a candidate area for colorectal cancer susceptibility and this area is supported by our results....

  1. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

  2. Young Age at Diagnosis of Type 1 Diabetes Is Associated with the Development of Celiac Disease-Associated Antibodies in Children Living in Newfoundland and Labrador, Canada.

    Science.gov (United States)

    Pall, Harpreet; Newhook, Leigh A; Aaron, Hillary; Curtis, Joseph; Randell, Ed

    2015-10-14

    The objectives of this study were to establish the prevalence of positive antibodies to endomysium (EMA) and tissue transglutaminase (tTG) in children with type 1 diabetes living in Newfoundland and Labrador (NL), and to examine clinical features associated with positive antibodies. Patients were recruited from the pediatric diabetes clinic. One hundred sixty-seven children with type 1 diabetes from the 280 children followed at the clinic were prospectively screened for celiac disease using EMA and tTG. The variables of Irish descent, age at onset of diabetes, duration of diabetes, sex, family history of celiac disease, hemoglobin A1C (A1C), ferritin, gastrointestinal symptoms, and body mass index were compiled for all patients. The group of patients with positive antibodies to EMA and/or tTG was compared to the group with negative antibodies. The prevalence of patients with positive antibodies to EMA and/or tTG was 16.8% (n = 28). One patient had also been previously diagnosed with symptomatic celiac disease. The two statistically significant variables with positive antibodies were an earlier age at onset of diabetes (Mann-Whitney U two-tailed test: mean difference 3.2 years, 95% CI 1.7-4.8 years, p celiac disease-associated antibodies in children living in NL with type 1 diabetes. Unlike other clinical features, an earlier age at onset of diabetes was predictive for positive antibodies. As the majority of children with positive antibodies did not have signs or symptoms of celiac disease, routine screening for celiac disease in type 1 diabetes is recommended.

  3. Sifting through genomes with iterative-sequence clustering produces a large, phylogenetically diverse protein-family resource.

    Science.gov (United States)

    Sharpton, Thomas J; Jospin, Guillaume; Wu, Dongying; Langille, Morgan G I; Pollard, Katherine S; Eisen, Jonathan A

    2012-10-13

    New computational resources are needed to manage the increasing volume of biological data from genome sequencing projects. One fundamental challenge is the ability to maintain a complete and current catalog of protein diversity. We developed a new approach for the identification of protein families that focuses on the rapid discovery of homologous protein sequences. We implemented fully automated and high-throughput procedures to de novo cluster proteins into families based upon global alignment similarity. Our approach employs an iterative clustering strategy in which homologs of known families are sifted out of the search for new families. The resulting reduction in computational complexity enables us to rapidly identify novel protein families found in new genomes and to perform efficient, automated updates that keep pace with genome sequencing. We refer to protein families identified through this approach as "Sifting Families," or SFams. Our analysis of ~10.5 million protein sequences from 2,928 genomes identified 436,360 SFams, many of which are not represented in other protein family databases. We validated the quality of SFam clustering through statistical as well as network topology-based analyses. We describe the rapid identification of SFams and demonstrate how they can be used to annotate genomes and metagenomes. The SFam database catalogs protein-family quality metrics, multiple sequence alignments, hidden Markov models, and phylogenetic trees. Our source code and database are publicly available and will be subject to frequent updates (http://edhar.genomecenter.ucdavis.edu/sifting_families/).

  4. Extensional Fault Evolution and its Flexural Isostatic Response During Iberia-Newfoundland Rifted Margin Formation

    Science.gov (United States)

    Gómez-Romeu, J.; Kusznir, N.; Manatschal, G.; Roberts, A.

    2017-12-01

    During the formation of magma-poor rifted margins, upper lithosphere thinning and stretching is achieved by extensional faulting, however, there is still debate and uncertainty how faults evolve during rifting leading to breakup. Seismic data provides an image of the present-day structural and stratigraphic configuration and thus initial fault geometry is unknown. To understand the geometric evolution of extensional faults at rifted margins it is extremely important to also consider the flexural response of the lithosphere produced by fault displacement resulting in footwall uplift and hangingwall subsidence. We investigate how the flexural isostatic response to extensional faulting controls the structural development of rifted margins. To achieve our aim, we use a kinematic forward model (RIFTER) which incorporates the flexural isostatic response to extensional faulting, crustal thinning, lithosphere thermal loads, sedimentation and erosion. Inputs for RIFTER are derived from seismic reflection interpretation and outputs of RIFTER are the prediction of the structural and stratigraphic consequences of recursive sequential faulting and sedimentation. Using RIFTER we model the simultaneous tectonic development of the Iberia-Newfoundland conjugate rifted margins along the ISE01-SCREECH1 and TGS/LG12-SCREECH2 seismic lines. We quantitatively test and calibrate the model against observed target data restored to breakup time. Two quantitative methods are used to obtain this target data: (i) gravity anomaly inversion which predicts Moho depth and continental lithosphere thinning and (ii) reverse post-rift subsidence modelling to give water and Moho depths at breakup time. We show that extensional faulting occurs on steep ( 60°) normal faults in both proximal and distal parts of rifted margins. Extensional faults together with their flexural isostatic response produce not only sub-horizontal exhumed footwall surfaces (i.e. the rolling hinge model) and highly rotated (60

  5. A study of naturally occurring, radionuclide bearing deposits at Portland Creek, Newfoundland

    International Nuclear Information System (INIS)

    1985-01-01

    A small uraniferous peat deposit located near Portland Creek, Newfoundland was investigated as part of the National Uranium Tailings Program (NUTP). The purpose of the investigation was to provide data on naturally occurring uranium series radionuclides at a surface location that could be used to compare with the predictions of mathematical models. The investigation was carried out between August 18 and 30, 1984 by CBCL Limited with the assistance of Golder Associates, SENES Consultants Limited, Environmental Design Group and Monenco Analytical Laboratories. The investigation involved the determination of the geological and hydrogeological conditions of the deposit site and collection of soil, water and biological samples. The samples were analyzed for major element chemistry, uranium and its various decay series radionuclides including radium-226 and the ratio of uranium-234 to uranium-238. The uranium mineralization was found to be associated with a peat deposit that has accumulated in post-glacial time. The deposit is situated within a groundwater discharge zone at the toe of a granitic talus pile that extends downward from the Long Range Mountains. The concentration of uranium within the peat deposit was found to vary from 100 to 28000 ppm, however, the activities of the uranium decay series radionuclides were comparatively very low. Radium-226 activities were found to vary from 0.5 Bq/g to 15.0 Bq/g. Little influence from the deposit was noted in the surrounding water bodies, fish samples and vegetation. Based on the results of the study the uranium mineralization within the peat is considered to be the result of precipitation or adsorption from groundwater that had previously leached uranium from the granitic talus which forms the groundwater recharge zone. The major geochemical mechanism for deposition is considered to be associated with the strong reducing conditions encountered within the peat. Being a recent deposit (i.e. less than 10,000-15,000 years old

  6. Effects of intensive harvesting on forest floor properties in Betula papyrifera stands in Newfoundland

    International Nuclear Information System (INIS)

    Roberts, B.A.; Deering, K.W.; Titus, B.D.

    1998-01-01

    This study investigates litter and organic matter production and related site ecology in nine medium to high quality Betula papyrifera stands in three locations in central Newfoundland on a variety of land form and drainage conditions. Three sites, Badger West (BW), Moose Pond (MP) and Middleton Lake (ML) were selected. The ML site has the highest quality (with the best height/age ratio, 18 m/60 yr, and height/DBH ratio, 18 m/30 cm), followed by MP and BW. Litter depth on well developed moders or mulls was usually 2 - 3 cm and varied from 1 - 15 cm. Forest floor depths (measured in 324 profiles) rarely reached 20 cm and was commonly 5 - 10 cm; it varied with position and site. Total and available nutrients indicate that B. papyrifera produces one of the highest-quality organic matter types of the local forest types and is important in improving site quality. The mean N-concentration in green foliage (2.21 %) and trapped litter (1.03 %) was highest at the best quality site ML, followed by MP and BW. The concentration of calcium, 0.85 %, was highest at the poorest quality site. Four years after harvesting, litter depth significantly decreased in all sites and treatments with the exception of the BW whole-tree harvest treatment. Total forest floor depth significantly decreased at all sites in the stem-only harvest treatment as well as the MP whole-tree harvest treatment. There was a significant decrease in available nitrogen following harvesting in both treatments at both the MP and BW sites. Change in available phosphorus was insignificant, with the exception of an increase in the MP stem-only harvest treatment. There was a significant decrease in available potassium at both the ML and BW whole-tree harvest treatments, but a significant increase in the stem-only harvest treatments at ML and MP. There was a significant decrease in available calcium in both treatments at both the MP and BW sites 34 refs, 4 figs, 1 tab

  7. Sifting through genomes with iterative-sequence clustering produces a large, phylogenetically diverse protein-family resource

    Directory of Open Access Journals (Sweden)

    Sharpton Thomas J

    2012-10-01

    Full Text Available Abstract Background New computational resources are needed to manage the increasing volume of biological data from genome sequencing projects. One fundamental challenge is the ability to maintain a complete and current catalog of protein diversity. We developed a new approach for the identification of protein families that focuses on the rapid discovery of homologous protein sequences. Results We implemented fully automated and high-throughput procedures to de novo cluster proteins into families based upon global alignment similarity. Our approach employs an iterative clustering strategy in which homologs of known families are sifted out of the search for new families. The resulting reduction in computational complexity enables us to rapidly identify novel protein families found in new genomes and to perform efficient, automated updates that keep pace with genome sequencing. We refer to protein families identified through this approach as “Sifting Families,” or SFams. Our analysis of ~10.5 million protein sequences from 2,928 genomes identified 436,360 SFams, many of which are not represented in other protein family databases. We validated the quality of SFam clustering through statistical as well as network topology–based analyses. Conclusions We describe the rapid identification of SFams and demonstrate how they can be used to annotate genomes and metagenomes. The SFam database catalogs protein-family quality metrics, multiple sequence alignments, hidden Markov models, and phylogenetic trees. Our source code and database are publicly available and will be subject to frequent updates (http://edhar.genomecenter.ucdavis.edu/sifting_families/.

  8. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

    Science.gov (United States)

    Bamashmus, M A; Downey, L M; Inglehearn, C F; Gupta, S R; Mansfield, D C

    2000-04-01

    Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR. Affected members and obligate gene carriers from this family were examined by slit lamp biomicroscopy, indirect ophthalmoscopy, and in some cases fluorescein angiography. Patient DNAs were genotyped for markers at the EVR1 locus on chromosome 11q13. The clinical evaluation in this family is consistent with previous descriptions of FEVR pedigrees, but linkage analysis proves that it has a form of FEVR genetically distinct from the EVR1 locus on 11q. This proves that there are at least three different loci associated with comparable FEVR phenotypes, a situation similar to that existing for many forms of retinal degeneration.

  9. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong.

    Directory of Open Access Journals (Sweden)

    Agnes Y Lai

    Full Text Available Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the "train-the-trainer" workshop (TTT for the first large scale, community-based, family intervention projects, entitled "Happy Family Kitchen Project" (HFK under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers' competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women. It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees' reactions to the training content and design, changes in learners (trainees and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a

  10. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong.

    Science.gov (United States)

    Lai, Agnes Y; Mui, Moses W; Wan, Alice; Stewart, Sunita M; Yew, Carol; Lam, Tai-Hing; Chan, Sophia S

    2016-01-01

    Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the "train-the-trainer" workshop (TTT) for the first large scale, community-based, family intervention projects, entitled "Happy Family Kitchen Project" (HFK) under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers' competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women). It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees' reactions to the training content and design, changes in learners (trainees) and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a practical example

  11. Variable influx of West Greenland Current water into the Labrador Current through the last 8000 years, based on a multiproxy study from Trinity Bay, NE Newfoundland

    DEFF Research Database (Denmark)

    Sheldon, Christina; Seidenkrantz, Marit-Solveig; Frandsen, Paul

    2015-01-01

    This multi-proxy study of marine sediment gravity core AI07-06G from Trinity Bay, Newfoundland, recorded changes in the strength of the Labrador Current (LC) during the Holocene. From ca. 8-5 cal kyr BP, Trinity Bay's seafloor was influenced by cooled Atlantic water derived from the West Greenland...

  12. CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

    NARCIS (Netherlands)

    Oosterwijk, JC; NELEN, M; VANZANDVOORT, PM; VANOSCH, LDM; ORANJE, AP; WITTEBOLPOST, D; VANOOST, BA

    In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod

  13. Dietary N-nitroso compounds and risk of colorectal cancer: a case-control study in Newfoundland and Labrador and Ontario, Canada

    Science.gov (United States)

    Zhu, Yun; Wang, Peizhong Peter; Zhao, Jing; Green, Roger; Sun, Zhuoyu; Roebothan, Barbara; Squires, Josh; Buehler, Sharon; Dicks, Elizabeth; Zhao, Jinhui; Cotterchio, Michelle; Campbell, Peter T.; Jain, Meera; Parfrey, Patrick S.; Mclaughlin, John R.

    2015-01-01

    Several N-nitroso compounds (NOC) have been shown to be carcinogenic in a variety of laboratory animals, but evidence of their carcinogenicity in humans is lacking. We aimed to examine the association between NOC intake and colorectal cancer (CRC) risk and possible effect modification by vitamins C and E and protein in a large case-control study carried out in Newfoundland and Labrador, and Ontario, Canada. A total of 1760 case patients with pathologically confirmed adenocarcinoma and 2481 population controls were asked to complete a self-administered FFQ to evaluate their dietary intakes 1 year before diagnosis (for cases) or interview (for controls). Adjusted OR and 95% CI were calculated across the quintiles of NOC (measured by N-nitrosodimethylamine (NDMA)) intake and relevant food items using unconditional logistic regression. NDMA intake was found to be associated with a higher risk of CRC (highest vs lowest quintiles, OR: 1.42; 95% CI: 1.03,1.96; p-trend=0.005), specifically for rectal carcinoma (OR: 1.61; 95% CI: 1.11,2.35; p-trend=0.01). CRC risk also increased with the consumption of NDMA-containing meats when the highest tertile was compared with the lowest tertile (OR: 1.47; 95% CI: 1.03,2.10; p-trend=0.20). There was evidence of effect modification between dietary vitamin E and NDMA. Individuals with high NDMA and low vitamin E intakes had a significantly increased risk than those with both low NDMA and vitamin E intakes (OR:3.01; 95% CI: 1.43,6.51; p-interaction=0.017). The present results support the hypothesis that NOC intake may be positively associated with CRC risk in humans. Vitamin E, which inhibits nitrosation, could modify the effect of NDMA on CRC risk. PMID:24160559

  14. When One Does Not Want to Be Like Others. The Basis of the Sense of Control among Conservative Laestadian Mothers with Large Families

    Directory of Open Access Journals (Sweden)

    Leena Pesälä

    2004-01-01

    Full Text Available Large families are the most characteristic feature of the Conservative Laestadian revivalist movement. In this research project belonging to the ? eld of psychology my aim is to describe the facts on which the sense of control of the Laestadian mothers with large families is based. My research method is a qualitative contents analysis. The results indicate that the mothers personal faith is the most important element in their sense of control. The values based on the Conservative Laestadian beliefs give a clear and safe structure for life. The most important role of the spouse is to support his wife emotionally, socially and spiritually. Behind the active parenthood of the mothers are the life management skills acquired in their families of origin as well as the experience acquired from motherhood. Family members share both mental and physical responsibilities, consequently supporting the mother. The mothers did not experience that they should not behave according to the family planning practises characteristic of our time. They do not want to be like others.

  15. Application of a sensitive collection heuristic for very large protein families: Evolutionary relationship between adipose triglyceride lipase (ATGL and classic mammalian lipases

    Directory of Open Access Journals (Sweden)

    Berezovsky Igor

    2006-03-01

    Full Text Available Abstract Background Manually finding subtle yet statistically significant links to distantly related homologues becomes practically impossible for very populated protein families due to the sheer number of similarity searches to be invoked and analyzed. The unclear evolutionary relationship between classical mammalian lipases and the recently discovered human adipose triglyceride lipase (ATGL; a patatin family member is an exemplary case for such a problem. Results We describe an unsupervised, sensitive sequence segment collection heuristic suitable for assembling very large protein families. It is based on fan-like expanding, iterative database searches. To prevent inclusion of unrelated hits, additional criteria are introduced: minimal alignment length and overlap with starting sequence segments, finding starting sequences in reciprocal searches, automated filtering for compositional bias and repetitive patterns. This heuristic was implemented as FAMILYSEARCHER in the ANNIE sequence analysis environment and applied to search for protein links between the classical lipase family and the patatin-like group. Conclusion The FAMILYSEARCHER is an efficient tool for tracing distant evolutionary relationships involving large protein families. Although classical lipases and ATGL have no obvious sequence similarity and differ with regard to fold and catalytic mechanism, homology links detected with FAMILYSEARCHER show that they are evolutionarily related. The conserved sequence parts can be narrowed down to an ancestral core module consisting of three β-strands, one α-helix and a turn containing the typical nucleophilic serine. Moreover, this ancestral module also appears in numerous enzymes with various substrate specificities, but that critically rely on nucleophilic attack mechanisms.

  16. Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation

    International Nuclear Information System (INIS)

    Qu Jia; Li Ronghua; Tong Yi; Hu Yongwu; Zhou Xiangtian; Qian Yaping; Lu Fan; Guan Minxin

    2005-01-01

    We report here the characterization of a five-generation large Chinese family with Leber's hereditary optic neuropathy (LHON). Very strikingly, six affected individuals of 38 matrilineal relatives (17 females/21 males) are exclusively males in this Chinese family. These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to normal vision. The age of onset in visual impairment varies from 17 to 30 years. Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of the G11778A mutation in ND4 gene and 29 other variants. This mitochondrial genome belongs to the Southern Chinese haplogroup B5b. We showed that the G11778A mutation is present at near homoplasmy in matrilineal relatives of this Chinese family but not in 164 Chinese controls. Incomplete penetrance of LHON in this family indicates the involvement of modulatory factors in the phenotypic expression of visual dysfunction associated with the G11778A mutation. However, none of other mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and phenotypic variability of LHON in this Chinese family carrying the G11778A mutation

  17. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

    Directory of Open Access Journals (Sweden)

    Wang Xiaoqin

    2007-12-01

    Full Text Available Abstract Background Cleidocranial dysplasia (CCD is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results The family carries a c.T407C (p.L136P mutation in the DNA- and CBFβ-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis.

  18. Gender and snow crab occupational asthma in Newfoundland and Labrador, Canada

    International Nuclear Information System (INIS)

    Howse, Dana; Gautrin, Denyse; Neis, Barbara; Cartier, Andre; Horth-Susin, Lise; Jong, Michael; Swanson, Mark C.

    2006-01-01

    Fish and shellfish processing employs many thousands of people globally, with shellfish processing becoming more important in recent years. Shellfish processing is associated with multiple occupational health and safety (OHS) risks. Snow crab occupational asthma (OA) is work-related asthma associated with processing snow crab. We present a gender analysis of findings from a 3-year multifaceted study of snow crab OA in Newfoundland and Labrador, Canada. The study was carried out in four snow crab processing communities between 2001 and 2004. An anonymous survey questionnaire on knowledge, beliefs, and concerns related to processing snow crab administered to 158 workers attending community meetings at the start of the research found that women were significantly more likely than men to associate certain health problems, especially chest tightness, difficulty breathing, and cough, with crab processing (P<0.001). Worker health assessments carried out with 215 processing workers (187 current/28 former; 120 female/95 male) found that female participants were more likely to be diagnosed as almost certain/highly probable snow crab OA and allergy (P=0.001) and to be sensitized to snow crab (P=0.01) than male participants. Work histories from the health assessments were used to classify processing jobs as male or female. Allergen sampling (211 allergen samples: 115 area, 96 personal breathing zone) indicated that the plant areas where these male jobs were concentrated were associated with lower levels of aerosolized crab allergens (the agents responsible for OA to snow crab) than areas associated with female jobs. This difference was statistically significant in the two plants with poor ventilation (p<0.001 and P=0.017 for these plants). A gender analysis of work history data showed that female health assessment participants were likely to have worked longer processing snow crab than males (5 years versus 3.5 years, respectively). Cross-referencing of work history results

  19. Addressing cumulative effects through strategic environmental assessment: a case study of small hydro development in Newfoundland, Canada

    International Nuclear Information System (INIS)

    Bonnell, S.; Storey, K.

    2000-01-01

    Environmental assessment (EA) is widely used as a means of incorporating environmental considerations into decision-making, primarily at the project level. The scope of EA has been expanded considerably in recent years to include earlier stages of the decision-making process, namely, policies, plans and programmes. Strategic environmental assessment (SEA) facilitates a planning approach to addressing the overall, cumulative effects of the projects that occur as a result of these decisions. This paper demonstrates the potential benefits of SEA in the assessment and management of cumulative effects, using a case study of recent hydroelectric development planning in Newfoundland, Canada. It goes on to illustrate how SEA could be used to address potential cumulative effects at the various stages of such a decision-making process. Through the case study, the paper also explores a number of issues in the implementation of such a planning approach. (author)

  20. Access to health services in Western Newfoundland, Canada: Issues, barriers and recommendations emerging from a community-engaged research project

    Directory of Open Access Journals (Sweden)

    Janelle Hippe

    2014-06-01

    Full Text Available Research indicates that people living in rural and remote areas of Canada face challenges to accessing health services. This article reports on a community-engaged research project conducted by investigators at Memorial University of Newfoundland in collaboration with the Rural Secretariat Regional Councils and Regional Partnership Planners for the Corner Brook–Rocky Harbour and Stephenville–Port aux Basques Rural Secretariat Regions of Newfoundland and Labrador. The aim of this research was to gather information on barriers to accessing health services, to identify solutions to health services’ access issues and to inform policy advice to government on enhancing access to health services. Data was collected through: (1 targeted distribution of a survey to communities throughout the region, and (2 informal ‘kitchen table’ discussions to discuss health services’ access issues. A total of 1049 surveys were collected and 10 kitchen table discussions were held. Overall, the main barriers to care listed in the survey included long wait times, services not available in the area and services not available at time required. Other barriers noted by survey respondents included transportation problems, financial concerns, no medical insurance coverage, distance to travel and weather conditions. Some respondents reported poorer access to maternal/child health and breast and cervical screening services and a lack of access to general practitioners, pharmacy services, dentists and nurse practitioners. Recommendations that emerged from this research included improving the recruitment of rural physicians, exploring the use of nurse practitioners, assisting individuals with travel costs,  developing specialist outreach services, increasing use of telehealth services and initiating additional rural and remote health research. Keywords: rural, remote, healthcare, health services, social determinants of health

  1. Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province

    Directory of Open Access Journals (Sweden)

    Mahtab Khosrofar

    2017-06-01

    Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.

  2. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families

    NARCIS (Netherlands)

    Pereira, Alberto M.; Hes, Frederik J.; Horvath, Anelia; Woortman, Sanne; Greene, Elizabeth; Bimpaki, Eirini; Alatsatianos, Anton; Boikos, Sosipatros; Smit, Johannes W.; Romijn, Johannes A.; Nesterova, Maria; Stratakis, Constantine A.

    2010-01-01

    Carney complex (CNC) is a familial multiple neoplasia syndrome frequently associated with primary pigmented nodular adrenocortical disease (PPNAD), a bilateral form of micronodular adrenal hyperplasia that leads to Cushing's syndrome (CS). Germline PRKAR1A mutations cause CNC and only rarely

  3. The large soybean (Glycine max) WRKY TF family expanded by segmental duplication events and subsequent divergent selection among subgroups.

    Science.gov (United States)

    Yin, Guangjun; Xu, Hongliang; Xiao, Shuyang; Qin, Yajuan; Li, Yaxuan; Yan, Yueming; Hu, Yingkao

    2013-10-03

    WRKY genes encode one of the most abundant groups of transcription factors in higher plants, and its members regulate important biological process such as growth, development, and responses to biotic and abiotic stresses. Although the soybean genome sequence has been published, functional studies on soybean genes still lag behind those of other species. We identified a total of 133 WRKY members in the soybean genome. According to structural features of their encoded proteins and to the phylogenetic tree, the soybean WRKY family could be classified into three groups (groups I, II, and III). A majority of WRKY genes (76.7%; 102 of 133) were segmentally duplicated and 13.5% (18 of 133) of the genes were tandemly duplicated. This pattern was not apparent in Arabidopsis or rice. The transcriptome atlas revealed notable differential expression in either transcript abundance or in expression patterns under normal growth conditions, which indicated wide functional divergence in this family. Furthermore, some critical amino acids were detected using DIVERGE v2.0 in specific comparisons, suggesting that these sites have contributed to functional divergence among groups or subgroups. In addition, site model and branch-site model analyses of positive Darwinian selection (PDS) showed that different selection regimes could have affected the evolution of these groups. Sites with high probabilities of having been under PDS were found in groups I, II c, II e, and III. Together, these results contribute to a detailed understanding of the molecular evolution of the WRKY gene family in soybean. In this work, all the WRKY genes, which were generated mainly through segmental duplication, were identified in the soybean genome. Moreover, differential expression and functional divergence of the duplicated WRKY genes were two major features of this family throughout their evolutionary history. Positive selection analysis revealed that the different groups have different evolutionary rates

  4. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

    DEFF Research Database (Denmark)

    Hansen, Thomas v O; Jønson, Lars; Albrechtsen, Anders

    2009-01-01

    BRCA1 and BRCA2 germ-line mutations predispose to breast and ovarian cancer. Large genomic rearrangements of BRCA1 account for 0-36% of all disease causing mutations in various populations, while large genomic rearrangements in BRCA2 are more rare. We examined 642 East Danish breast and/or ovaria...

  5. A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

    Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

  6. The sensitivity of diffuse large B-cell lymphoma cell lines to histone deacetylase inhibitor-induced apoptosis is modulated by BCL-2 family protein activity.

    Directory of Open Access Journals (Sweden)

    Ryan C Thompson

    Full Text Available BACKGROUND: Diffuse large B-cell lymphoma (DLBCL is a genetically heterogeneous disease and this variation can often be used to explain the response of individual patients to chemotherapy. One cancer therapeutic approach currently in clinical trials uses histone deacetylase inhibitors (HDACi's as monotherapy or in combination with other agents. METHODOLOGY/PRINCIPAL FINDINGS: We have used a variety of cell-based and molecular/biochemical assays to show that two pan-HDAC inhibitors, trichostatin A and vorinostat, induce apoptosis in seven of eight human DLBCL cell lines. Consistent with previous reports implicating the BCL-2 family in regulating HDACi-induced apoptosis, ectopic over-expression of anti-apoptotic proteins BCL-2 and BCL-XL or pro-apoptotic protein BIM in these cell lines conferred further resistance or sensitivity, respectively, to HDACi treatment. Additionally, BCL-2 family antgonist ABT-737 increased the sensitivity of several DLBCL cell lines to vorinostat-induced apoptosis, including one cell line (SUDHL6 that is resistant to vorinostat alone. Moreover, two variants of the HDACi-sensitive SUDHL4 cell line that have decreased sensitivity to vorinostat showed up-regulation of BCL-2 family anti-apoptotic proteins such as BCL-XL and MCL-1, as well as decreased sensitivity to ABT-737. These results suggest that the regulation and overall balance of anti- to pro-apoptotic BCL-2 family protein expression is important in defining the sensitivity of DLBCL to HDACi-induced apoptosis. However, the sensitivity of DLBCL cell lines to HDACi treatment does not correlate with expression of any individual BCL-2 family member. CONCLUSIONS/SIGNIFICANCE: These studies indicate that the sensitivity of DLBCL to treatment with HDACi's is dependent on the complex regulation of BCL-2 family members and that BCL-2 antagonists may enhance the response of a subset of DLBCL patients to HDACi treatment.

  7. A family-wide RT-PCR assay for detection of paramyxoviruses and application to a large-scale surveillance study.

    Directory of Open Access Journals (Sweden)

    Sander van Boheemen

    Full Text Available Family-wide molecular diagnostic assays are valuable tools for initial identification of viruses during outbreaks and to limit costs of surveillance studies. Recent discoveries of paramyxoviruses have called for such assay that is able to detect all known and unknown paramyxoviruses in one round of PCR amplification. We have developed a RT-PCR assay consisting of a single degenerate primer set, able to detect all members of the Paramyxoviridae family including all virus genera within the subfamilies Paramyxovirinae and Pneumovirinae. Primers anneal to domain III of the polymerase gene, with the 3' end of the reverse primer annealing to the conserved motif GDNQ, which is proposed to be the active site for nucleotide polymerization. The assay was fully optimized and was shown to indeed detect all available paramyxoviruses tested. Clinical specimens from hospitalized patients that tested positive for known paramyxoviruses in conventional assays were also detected with the novel family-wide test. A high-throughput fluorescence-based RT-PCR version of the assay was developed for screening large numbers of specimens. A large number of samples collected from wild birds was tested, resulting in the detection of avian paramyxoviruses type 1 in both barnacle and white-fronted geese, and type 8 in barnacle geese. Avian metapneumovirus type C was found for the first time in Europe in mallards, greylag geese and common gulls. The single round family-wide RT-PCR assay described here is a useful tool for the detection of known and unknown paramyxoviruses, and screening of large sample collections from humans and animals.

  8. Comparative Genomics of Chrysochromulina Ericina Virus and Other Microalga-Infecting Large DNA Viruses Highlights Their Intricate Evolutionary Relationship with the Established Mimiviridae Family.

    Science.gov (United States)

    Gallot-Lavallée, Lucie; Blanc, Guillaume; Claverie, Jean-Michel

    2017-07-15

    Chrysochromulina ericina virus CeV-01B (CeV) was isolated from Norwegian coastal waters in 1998. Its icosahedral particle is 160 nm in diameter and encloses a 474-kb double-stranded DNA (dsDNA) genome. This virus, although infecting a microalga (the haptophyceae Haptolina ericina , formerly Chrysochromulina ericina ), is phylogenetically related to members of the Mimiviridae family, initially established with the acanthamoeba-infecting mimivirus and megavirus as prototypes. This family was later split into two genera ( Mimivirus and Cafeteriavirus ) following the characterization of a virus infecting the heterotrophic stramenopile Cafeteria roenbergensis (CroV). CeV, as well as two of its close relatives, which infect the unicellular photosynthetic eukaryotes Phaeocystis globosa (Phaeocystis globosa virus [PgV]) and Aureococcus anophagefferens (Aureococcus anophagefferens virus [AaV]), are currently unclassified by the International Committee on Viral Taxonomy (ICTV). The detailed comparative analysis of the CeV genome presented here confirms the phylogenetic affinity of this emerging group of microalga-infecting viruses with the Mimiviridae but argues in favor of their classification inside a distinct clade within the family. Although CeV, PgV, and AaV share more common features among them than with the larger Mimiviridae , they also exhibit a large complement of unique genes, attesting to their complex evolutionary history. We identified several gene fusion events and cases of convergent evolution involving independent lateral gene acquisitions. Finally, CeV possesses an unusual number of inteins, some of which are closely related despite being inserted in nonhomologous genes. This appears to contradict the paradigm of allele-specific inteins and suggests that the Mimiviridae are especially efficient in spreading inteins while enlarging their repertoire of homing genes. IMPORTANCE Although it infects the microalga Chrysochromulina ericina , CeV is more closely

  9. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

    Science.gov (United States)

    Rafiq, Muhammad Arshad; Leblond, Claire S; Saqib, Muhammad Arif Nadeem; Vincent, Akshita K; Ambalavanan, Amirthagowri; Khan, Falak Sher; Ayaz, Muhammad; Shaheen, Naseema; Spiegelman, Dan; Ali, Ghazanfar; Amin-ud-Din, Muhammad; Laurent, Sandra; Mahmood, Huda; Christian, Mehtab; Ali, Nadir; Fennell, Alanna; Nanjiani, Zohair; Egger, Gerald; Caron, Chantal; Waqas, Ahmed; Ayub, Muhammad; Rasheed, Saima; Forgeot d'Arc, Baudouin; Johnson, Amelie; So, Joyce; Brohi, Muhammad Qasim; Mottron, Laurent; Ansar, Muhammad; Vincent, John B; Xiong, Lan

    2015-06-25

    Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

  10. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

    Science.gov (United States)

    Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei

    2011-12-20

    Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced. A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA] in exon 8 of the MITF gene co-segregates with WS2 in the family. The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids. The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G>A]+[235delC] compound heterozygous pathogenic mutation in the GJB2 gene. No pathogenic mutation was found in mtDNA 12S rRNA in this family. Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband. Copyright © 2011. Published by Elsevier Ltd.

  11. Regulatory patterns of a large family of defensin-like genes expressed in nodules of Medicago truncatula.

    Directory of Open Access Journals (Sweden)

    Sumitha Nallu

    Full Text Available Root nodules are the symbiotic organ of legumes that house nitrogen-fixing bacteria. Many genes are specifically induced in nodules during the interactions between the host plant and symbiotic rhizobia. Information regarding the regulation of expression for most of these genes is lacking. One of the largest gene families expressed in the nodules of the model legume Medicago truncatula is the nodule cysteine-rich (NCR group of defensin-like (DEFL genes. We used a custom Affymetrix microarray to catalog the expression changes of 566 NCRs at different stages of nodule development. Additionally, bacterial mutants were used to understand the importance of the rhizobial partners in induction of NCRs. Expression of early NCRs was detected during the initial infection of rhizobia in nodules and expression continued as nodules became mature. Late NCRs were induced concomitantly with bacteroid development in the nodules. The induction of early and late NCRs was correlated with the number and morphology of rhizobia in the nodule. Conserved 41 to 50 bp motifs identified in the upstream 1,000 bp promoter regions of NCRs were required for promoter activity. These cis-element motifs were found to be unique to the NCR family among all annotated genes in the M. truncatula genome, although they contain sub-regions with clear similarity to known regulatory motifs involved in nodule-specific expression and temporal gene regulation.

  12. Using crustal thickness and subsidence history on the Iberia-Newfoundland margins to constrain lithosphere deformation modes during continental breakup

    Science.gov (United States)

    Jeanniot, Ludovic; Kusznir, Nick; Manatschal, Gianreto; Mohn, Geoffroy

    2014-05-01

    Observations at magma-poor rifted margins such as Iberia-Newfoundland show a complex lithosphere deformation history during continental breakup and seafloor spreading initiation leading to complex OCT architecture with hyper-extended continental crust and lithosphere, exhumed mantle and scattered embryonic oceanic crust and continental slivers. Initiation of seafloor spreading requires both the rupture of the continental crust and lithospheric mantle, and the onset of decompressional melting. Their relative timing controls when mantle exhumation may occur; the presence or absence of exhumed mantle provides useful information on the timing of these events and constraints on lithosphere deformation modes. A single lithosphere deformation mode leading to continental breakup and sea-floor spreading cannot explain observations. We have determined the sequence of lithosphere deformation events for two profiles across the present-day conjugate Iberia-Newfoundland margins, using forward modelling of continental breakup and seafloor spreading initiation calibrated against observations of crustal basement thickness and subsidence. Flow fields, representing a sequence of lithosphere deformation modes, are generated by a 2D finite element viscous flow model (FeMargin), and used to advect lithosphere and asthenosphere temperature and material. FeMargin is kinematically driven by divergent deformation in the upper 15-20 km of the lithosphere inducing passive upwelling beneath that layer; extensional faulting and magmatic intrusions deform the topmost upper lithosphere, consistent with observations of deformation processes occurring at slow spreading ocean ridges (Cannat, 1996). Buoyancy enhanced upwelling, as predicted by Braun et al. (2000) is also kinematically included in the lithosphere deformation model. Melt generation by decompressional melting is predicted using the parameterization and methodology of Katz et al. (2003). The distribution of lithosphere deformation, the

  13. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

    DEFF Research Database (Denmark)

    Aretz, S; Stienen, D; Uhlhaas, S

    2007-01-01

    BACKGROUND: In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. METHODS: Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical criteria for JPS (typical JPS) and 15 were susp...

  14. Immunoglobulin Heavy Chain Variable Region and Major Histocompatibility Region Genes Are Linked to Induced Graves' Disease in Females From Two Very Large Families of Recombinant Inbred Mice

    Science.gov (United States)

    Aliesky, Holly; Banuelos, Bianca; Magana, Jessica; Williams, Robert W.; Rapoport, Basil

    2014-01-01

    Graves' hyperthyroidism is caused by antibodies to the TSH receptor (TSHR) that mimic thyroid stimulation by TSH. Stimulating TSHR antibodies and hyperthyroidism can be induced by immunizing mice with adenovirus expressing the human TSHR A-subunit. Prior analysis of induced Graves' disease in small families of recombinant inbred (RI) female mice demonstrated strong genetic control but did not resolve trait loci for TSHR antibodies or elevated serum T4. We investigated the genetic basis for induced Graves' disease in female mice of two large RI families and combined data with earlier findings to provide phenotypes for 178 genotypes. TSHR antibodies measured by inhibition of TSH binding to its receptor were highly significantly linked in the BXD set to the major histocompatibility region (chromosome 17), consistent with observations in 3 other RI families. In the LXS family, we detected linkage between T4 levels after TSHR-adenovirus immunization and the Ig heavy chain variable region (Igvh, chromosome 12). This observation is a key finding because components of the antigen binding region of Igs determine antibody specificity and have been previously linked to induced thyroid-stimulating antibodies. Data from the LXS family provide the first evidence in mice of a direct link between induced hyperthyroidism and Igvh genes. A role for major histocompatibility genes has now been established for genetic susceptibility to Graves' disease in both humans and mice. Future studies using arrays incorporating variation in the complex human Ig gene locus will be necessary to determine whether Igvh genes are also linked to Graves' disease in humans. PMID:25051451

  15. Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study.

    Science.gov (United States)

    Schuur, M; Henneman, P; van Swieten, J C; Zillikens, M C; de Koning, I; Janssens, A C J W; Witteman, J C M; Aulchenko, Y S; Frants, R R; Oostra, B A; van Dijk, K Willems; van Duijn, C M

    2010-08-01

    While type 2 diabetes is well-known to be associated with poorer cognitive performance, few studies have reported on the association of metabolic syndrome (MetS) and contributing factors, such as insulin-resistance (HOMA-IR), low adiponectin-, and high C-reactive protein (CRP)-levels. We studied whether these factors are related to cognitive function and which of the MetS components are independently associated. The study was embedded in an ongoing family-based cohort study in a Dutch population. All participants underwent physical examinations, biomedical measurements, and neuropsychological testing. Linear regression models were used to determine the association between MetS, HOMA-IR, adiponectin levels, CRP, and cognitive test scores. Cross-sectional analyses were performed in 1,898 subjects (mean age 48 years, 43% men). People with MetS had significantly higher HOMA-IR scores, lower adiponectin levels, and higher CRP levels. MetS and high HOMA-IR were associated with poorer executive function in women (P = 0.03 and P = 0.009). MetS and HOMA-IR are associated with poorer executive function in women.

  16. Experiences with Department of Fisheries and Oceans' 'No net loss guiding principle' at hydroelectric developments in Newfoundland

    International Nuclear Information System (INIS)

    Hill, E.L.

    1995-01-01

    The 'no net loss' guiding principle and policy objectives of the Canafdian and Newfoundland fisheries authorities were defined and British Columbia (BC) Hydro's experiences with implementation of a similar policy were described. In this instance no environmental assessment had been performed prior to the expansion being proposed in 1989. A key issue was the impact on habitats of land-locked salmon and brook trout. An environmental preview report (EPR) prepared by Hydro, which used already existing photos and habitat information, concluded that spawning habitat was poor and would be relatively unaffected by the amount of additional flooding proposed. Options to make up for lost habitat were discussed, among them reintroduction of previously lost habitat, preferred fish for local anglers, budget constraints, legal aspects and current fish demographics. It was concluded that quantitative impacts and habitat loss mitigation or compensation for freshwater fish with low recreation or commercial significance were difficult to assess. It was suggested that angler preference and socioeconomic concerns should be considered when fulfilling the 'no net loss principle'. Additional research and a more active role by the Department of Fisheries in identifying mitigation and compensation measures were recommended. 6 refs.,i fig

  17. Labour market assessment of the offshore oil and gas industry supply and service sector in Newfoundland and Labrador

    International Nuclear Information System (INIS)

    2003-09-01

    The Petroleum Industry Human Resource Committee (PIHRC) commissioned this study in December 2002 to develop a profile of the labour demand and supply for the upstream production phase of the offshore oil and gas industry. Interviews with representatives from more than 45 countries in the offshore oil and gas sector in Newfoundland and Labrador were conducted. In addition, the results of a mail survey forwarded to an additional 42 companies were included along with a review of secondary labour market research. More than 340 positions were identified in the production phase in the study. Of these, approximately 80 were identified as difficult to recruit for a variety of reasons including: insufficient experience in the oil industry; occupational shortages; short-term or project employment opportunities; very limited employment opportunities and limited occupational supply; lack of specific occupational training programs; and additional projects possibly leading to occupational shortages. The study provided valuable input concerning future labour market and human resource planning and career counselling on the 340 positions previously identified. 10 tabs

  18. Evaluation of factors related to increased zooplankton biomass and altered species composition following impoundment of a Newfoundland reservoir

    International Nuclear Information System (INIS)

    Campbell, C.E.; Knoechel, R.; Copeman, D.

    1998-01-01

    An 11-year study of the zooplankton community in Cat Arm Hydroelectric Reservoir in Newfoundland was conducted to assess long-term zooplankton community dynamics in a subarctic system. Zooplankton biomass and species compositions were monitored from 1983 to 1993. The monitoring program documented the trophic evolution of the Cat Arm system as it changed from a shallow lake with short water retention time to a deep reservoir with a much lower flushing rate. Zooplankton biomass increased approximately 19-fold in the oligotrophic hydroelectric reservoir following impoundment in 1984, relative to biomass in the preexisting lake. During the first three years of impoundment, there were no increases in either phytoplankton biomass or primary productivity. Natality of the dominant cladoceran (Daphnia catawba) did not increase. Summer water retention time increased from pre-impoundment levels of 4 days in 1983 to 338 days in 1993. The study showed that zooplankton biomass was greatly correlated with water retention time, and showed no major correlation with phytoplankton biomass, primary productivity, nutrient concentrations, pH, colour, or epilimnetic temperature. It was concluded that changes in the zooplankton community in the hydroelectric reservoir were a result of decreases in losses due to washout. 41 refs., 2 tabs., 6 figs

  19. Assessing the potential for isotopic partitioning of soil respiration at research sites in Nova Scotia and Newfoundland

    Energy Technology Data Exchange (ETDEWEB)

    Risk, D.; Kellman, L.; Black, M. [Saint Francis Xavier Univ., Antigonish, NS (Canada). Environmental Sciences Research Centre

    2005-07-01

    The stable isotope ratios of carbon and oxygen in different tree species were studied with respect to different tissues, at different points within the tree, through soil profiles and in carbon dioxide respired from laboratory incubations. Although isotopic methods of partitioning autotrophic and heterotrophic soil respiration have been used with some success, stable isotopic methods are complicated by the fact that carbon isotope fractionations are small in natural systems, and radiocarbon techniques are time and equipment intensive. Studies that use isotopic analysis opportunistically, such as in C3/C4 transitional systems, have proven to be the most successful. Previously unexploited opportunities have the potential to be used for stable isotope-based partitioning in natural systems if the autotrophic/heterotrophic process distribution in the profile is well understand and if there is good process resolution and concurrent analyses using physical partitioning methods such as trenches. This study explored the different paths of opportunity in terms of background isotopic characterization that is being carried out for an existing network of carbon flux research sites in eastern Nova Scotia and in western Newfoundland. The new continuous flow-isotope ratio mass spectrometer (CF-IRMS) at the Environmental Earth Sciences Laboratory at St. Francis Xavier University was used for the isotopic analyses. The isotopic information will be evaluated for potential partitioning opportunities, considering the combination of approaches that will give the best chances of success. Isotopic partitioning trials will take place at suitable sites.

  20. The Ability of Posters to Enhance the Comfort Level with Breastfeeding in a Public Venue in Rural Newfoundland and Labrador.

    Science.gov (United States)

    Vieth, Alissa; Woodrow, Janine; Murphy-Goodridge, Janet; O'Neil, Courtney; Roebothan, Barbara

    2016-02-01

    The acceptance and support of breastfeeding in public venues can influence breastfeeding practices and, ultimately, the health of the population. The primary aim of this study was to investigate whether posters targeted at the general public could improve acceptability of breastfeeding in public places. A convenience sample of 255 participants was surveyed at shopping centers in 2 rural communities of Newfoundland and Labrador. Experimentally, questions were posed to 117 participants pre- and post-exposure to 2 specific posters designed to promote public acceptance of breastfeeding in public. Initially, we surveyed that only 51.9% of participants indicated that they were comfortable with a woman breastfeeding anywhere in public. However, context played a role, whereby a doctor's office (84.5%) or park (81.4%) were the most acceptable public places for breastfeeding, but least acceptable was a business office environment (66.7%). Of participants, 35.4% indicated previously viewing specific posters. We used a visual analog scale to test poster viewing on the acceptability of public breastfeeding in the context of a doctor's office and a restaurant. Results of pre- versus post-viewing of the promotional posters indicated significant improvements in both scenarios: in a doctor's office (P = .035) and in a restaurant (P = .021). Nearly 50% of the surveyed population indicated discomfort with a mother breastfeeding in public. Both cross-sectional and interventional evidence showed that posters significantly improved the reported level of comfort toward seeing breastfeeding in public. © The Author(s) 2015.

  1. What level of concern is warranted with respect to release of production waters on the Grand Banks of Newfoundland?

    International Nuclear Information System (INIS)

    Andrews, C.; Payne, J.; Guiney, J.; Lee, K.

    2009-01-01

    The Terra Nova, Hibernia, White Rose and Hebron offshore fields are situated in an important fishing area at the edge of the Grand Banks of Newfoundland. The offshore oil and gas industry must consider its potential effects on fisheries and the environment. This presentation discussed the potential scale and nature of any impacts at individual development sites. Most information from field and laboratory studies suggests that offshore impacts will likely be minimal with little potential for any impacts beyond individual rig sites. Fishery closure zones around rigs could occasionally act as nursery areas or marine protected areas. The authors noted that such general statements should be approached with caution given that some uncertainties remain about the effects of oil development, including the potential for chronic effects of produced water on fish and other biota. The presentation reviewed recent laboratory and field studies carried out under the Program of Energy Research and Development (PERD) to 2008. Industry Environmental Effects Management (EEM) programs in the Grand Banks are presently geared towards providing early warning of any impacts on fish health, fish quality, sediment toxicity, and primary productivity. EEM programs also help reveal new insights which are not possible through laboratory studies.

  2. MEDICINAL PLANTS AND HERBS OF NEWFOUNDLAND. PART 1. CHEMICAL CONSTITUENTS OF THE AERIAL PART OF PINEAPPLE WEED (Matricaria matricarioides

    Directory of Open Access Journals (Sweden)

    TIMOTHY F. LOOMIS

    2004-09-01

    Full Text Available The aerial part of Pineapple weed (Matricaria matricarioides, an adulterant of Chamomile, was investigated for its chemical constituents. Nine compounds were isolated and identified as two spiroethers [cis - en - yn - dicycloether 1 and trans - en - yn - dicycloether 2], three coumarins [7 - methoxycoumarin (Herniarin 3, umbelliferone 4 and 7 - methoxy - 3, 4 -dihydrocoumarin 5], phytol 6, luteolin - 7 - glucoside 7, (Z - 2 - β - D - Glucopyranosyloxyl - 4 - methoxycinnamic acid 8, and (E - 2 - β -D-Glucopyranosyloxyl - 4 -methoxycinnamic acid 9. By GC-MS analysis, the major components of the steam distilled volatile oil were identified as trans-en-yn-dicycloether and cis-en- yn-dicycloether, with the trans-form being more abundant than the cis-form. The results indicated some similarities between the constituents of Pineapple weed and those of German Chamomile. All these nine compounds are reported for the first time from Pineapple weed growing in Newfoundland. Compound 5 is reported from this plant genus for the first time.

  3. Labour market assessment of the offshore oil and gas industry supply and service sector in Newfoundland and Labrador

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2003-09-01

    The Petroleum Industry Human Resource Committee (PIHRC) commissioned this study in December 2002 to develop a profile of the labour demand and supply for the upstream production phase of the offshore oil and gas industry. Interviews with representatives from more than 45 countries in the offshore oil and gas sector in Newfoundland and Labrador were conducted. In addition, the results of a mail survey forwarded to an additional 42 companies were included along with a review of secondary labour market research. More than 340 positions were identified in the production phase in the study. Of these, approximately 80 were identified as difficult to recruit for a variety of reasons including: insufficient experience in the oil industry; occupational shortages; short-term or project employment opportunities; very limited employment opportunities and limited occupational supply; lack of specific occupational training programs; and additional projects possibly leading to occupational shortages. The study provided valuable input concerning future labour market and human resource planning and career counselling on the 340 positions previously identified. 10 tabs.

  4. A retrospective study of radon daughter concentrations in the workplace in the fluorspar mines of St. Lawrence, Newfoundland

    International Nuclear Information System (INIS)

    Corkhill, D.A.; Dory, A.B.

    1984-07-01

    Fluorspar mining began in St. Lawrence, Newfoundland in the early thirties. In the early years the existing economic and social conditions resulted in poor health and safety practices in the mines. A high incidence of many types of pulmonary diseases, including lung cancer, among the miners was investigated by the Department of National Health and Welfare, and by 1960 radiation in the mines was recognized as the major cause. The original epidemiological study used radon daughter exposure estimates determined from a limited number of radon daughter measurements in one of the mines. Insufficient experience existed at that time to allow a proper technical assessment of the mines and to modify the estimated radon daughter concentrations accordingly. A review of the environmental conditions in the early years of mining and a revision of the estimates of radon daughter concentrations in those mines is presented. Environmental working conditions were determined based on a review of maps, inspectors' reports, Commission hearings, recollections of former workers and of the authors. Comparison to the conditions in the mines in later years, when radiation samples were taken more frequently allowed estimations of the probable radon daughter concentrations that would have existed in the mines earlier. Ranges of estimated average concentrations were made by mines for each year and wherever possible for broad types of job classes. Rather than attempting to propose single numbers for radon daughter concentrations, which in turn might have implied an accuracy that did not exist, ranges of average radon daughter concentrations were estimated

  5. Investigation of trophic ecology in Newfoundland cold-water deep-sea corals using lipid class and fatty acid analyses

    Science.gov (United States)

    Salvo, Flora; Hamoutene, Dounia; Hayes, Vonda E. Wareham; Edinger, Evan N.; Parrish, Christopher C.

    2018-03-01

    The trophic behavior of some deep-sea Newfoundland cold-water corals was explored using fatty acid (FA) and lipid profiles. No significant effect of geographic location and/or depth was identified in lipid or FA composition. However, differences were detected between and within taxon groups in hexa- or octocoral subclasses. Phospholipids constituted the main lipid class in all groups except black-thorny corals which had less structural lipids likely due to their morphology (stiff axes) and slower growth rates. Within each subclass, major differences in the identity of dominant FAs were detected at the order level, whereas differences between species and taxon groups of the same order were mainly driven by a variation in proportions of the dominant FA. Soft corals and gorgonians (Order Alcyonacea) were close in composition and are likely relying on phytodetritus resulting from algae, macrophytes and/or foraminifera, while sea pens (Order Pennatulacea) seem to consume more diatoms and/or herbivorous zooplankton with the exception of Pennatula sp. In the hexacoral subclass, black-thorny corals ( Stauropathes arctica) differed significantly from the stony-cup corals ( Flabellum alabastrum); S. arctica was seemingly more carnivorous (zooplankton markers) than F. alabastrum, which appears omnivorous (phyto- and zooplankton markers). Our results suggest that deep-sea corals are not as opportunistic as expected but have some selective feeding associated with taxonomy.

  6. A proposed global stratotype for the second series of the Ordovician system: Cow Head Peninsula, western Newfoundland

    Energy Technology Data Exchange (ETDEWEB)

    Williams, S H [Memorial Univ. of Newfoundland, St. John' s, NF (Canada); Barnes, C R [Victoria Univ., BC (Canada); Boyce, W D [Newfoundland Dept. of Mines and Energy, St. John' s, NF (Canada); O' Brien, F H C

    1994-06-01

    The first occurrence of Tetragraptus approximatus approximatus is now taken to mark the base of the second (Arenig) series of the Ordovician System. It is proposed that the Cow Head Peninsula, western Newfoundland, be adopted for Global Stratotype Section and Point (GSSP), with the boundary placed at the base of the T. approximatus Zone, 2.9 m above the base of the Factory Cove Member, Shallow Bay Formation of the Cow Head Group. The well-preserved graptolite fauna occurs in association with abundant conodonts, demonstrating this level to correspond closely with the base of the Prionodus elegans conodont Zone. Immediately underlying strata yield bithecate graptoloid assemblages, generally taken as indicating the latest part of the previous (Tremadoc) series. Neighbouring sections also yield typically Tremadoc deep-water trilobites from this level, permitting correlation between the three fossil groups. Other fossils including acritarchs, are also present in the Cow Head sections, which are structurally simple, of low thermal maturity (CAI 1.5 or less) and suitable for chemo- and magnetostratigraphic studies. 80 refs., 8 figs.

  7. Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

    Science.gov (United States)

    Guarnieri, Vito; Seaberg, Raewyn M; Kelly, Catherine; Jean Davidson, M; Raphael, Simon; Shuen, Andrew Y; Baorda, Filomena; Palumbo, Orazio; Scillitani, Alfredo; Hendy, Geoffrey N; Cole, David E C

    2017-08-03

    Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her father and daughter had hyperparathyroidism (parathyroid adenoma) but no other manifestations of HPT-JT. CDC73 mutation analysis (sequencing of all 17 exons) and whole-genome copy number variation (CNV) analysis was done on leukocyte DNA of the three affecteds as well as the proband's unaffected sister. A novel deletion of exons 4 to 10 of CDC73 was detected by CNV analysis in the three affecteds. A novel insertion in the 5'UTR (c.-4_-11insG) that co-segregated with the deletion was identified. By in vitro assay the 5'UTR insertion was shown to significantly impair the expression of the parafibromin protein. Screening for the mutated CDC73 confirmed carrier status in the proband's daughter and the biochemistry and ultrasonography led to pre-emptive surgery and resolution of the hyperparathyroidism. A novel gross deletion mutation in CDC73 was identified in a three-generation HPT-JT family emphasizing the importance of including screening for large deletions in the molecular diagnostic protocol.

  8. Large-Scale Purification and Characterization of Barley Limit Dextrinase, a Member of the α-Amylase Structural Family

    DEFF Research Database (Denmark)

    Kristensen, Michael; Planchot, Véronique; Abe, Jun-ichi

    1998-01-01

    Homogeneous barley limit dextrinase (LD) was isolated on a large scale in a yield of 9 mg/kg of 10-day germinated green malt. This represents a 9,400-fold purification and 29% recovery of the activity in a flour extract in 0.2M NaOAc (pH 5.0) containing 5 mM ascorbic acid. The purification protocol...... consists of precipitation from the extract at 20-70% saturated ammonium sulfate (AMS), followed by diethylaminoethyl (DEAE) 650S Fractogel anion-exchange chromatography, and affinity chromatography on b-cyclodextrin-Sepharose in the presence of 2M AMS. LD was eluted by 7 mM b-cyclodextrin and contains...

  9. Targeted Enrichment of Large Gene Families for Phylogenetic Inference: Phylogeny and Molecular Evolution of Photosynthesis Genes in the Portullugo Clade (Caryophyllales).

    Science.gov (United States)

    Moore, Abigail J; Vos, Jurriaan M De; Hancock, Lillian P; Goolsby, Eric; Edwards, Erika J

    2018-05-01

    Hybrid enrichment is an increasingly popular approach for obtaining hundreds of loci for phylogenetic analysis across many taxa quickly and cheaply. The genes targeted for sequencing are typically single-copy loci, which facilitate a more straightforward sequence assembly and homology assignment process. However, this approach limits the inclusion of most genes of functional interest, which often belong to multi-gene families. Here, we demonstrate the feasibility of including large gene families in hybrid enrichment protocols for phylogeny reconstruction and subsequent analyses of molecular evolution, using a new set of bait sequences designed for the "portullugo" (Caryophyllales), a moderately sized lineage of flowering plants (~ 2200 species) that includes the cacti and harbors many evolutionary transitions to C$_{\\mathrm{4}}$ and CAM photosynthesis. Including multi-gene families allowed us to simultaneously infer a robust phylogeny and construct a dense sampling of sequences for a major enzyme of C$_{\\mathrm{4}}$ and CAM photosynthesis, which revealed the accumulation of adaptive amino acid substitutions associated with C$_{\\mathrm{4}}$ and CAM origins in particular paralogs. Our final set of matrices for phylogenetic analyses included 75-218 loci across 74 taxa, with ~ 50% matrix completeness across data sets. Phylogenetic resolution was greatly improved across the tree, at both shallow and deep levels. Concatenation and coalescent-based approaches both resolve the sister lineage of the cacti with strong support: Anacampserotaceae $+$ Portulacaceae, two lineages of mostly diminutive succulent herbs of warm, arid regions. In spite of this congruence, BUCKy concordance analyses demonstrated strong and conflicting signals across gene trees. Our results add to the growing number of examples illustrating the complexity of phylogenetic signals in genomic-scale data.

  10. Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.

    Directory of Open Access Journals (Sweden)

    Nori Matsunami

    Full Text Available Structural variation is thought to play a major etiological role in the development of autism spectrum disorders (ASDs, and numerous studies documenting the relevance of copy number variants (CNVs in ASD have been published since 2006. To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to identify 153 putative autism-specific CNVs present in 55 individuals with ASD from 9 multiplex ASD pedigrees. To evaluate the actual prevalence of these CNVs as well as 185 CNVs reportedly associated with ASD from published studies many of which are insufficiently powered, we designed a custom Illumina array and used it to interrogate these CNVs in 3,000 ASD cases and 6,000 controls. Additional single nucleotide variants (SNVs on the array identified 25 CNVs that we did not detect in our family studies at the standard SNP array resolution. After molecular validation, our results demonstrated that 15 CNVs identified in high-risk ASD families also were found in two or more ASD cases with odds ratios greater than 2.0, strengthening their support as ASD risk variants. In addition, of the 25 CNVs identified using SNV probes on our custom array, 9 also had odds ratios greater than 2.0, suggesting that these CNVs also are ASD risk variants. Eighteen of the validated CNVs have not been reported previously in individuals with ASD and three have only been observed once. Finally, we confirmed the association of 31 of 185 published ASD-associated CNVs in our dataset with odds ratios greater than 2.0, suggesting they may be of clinical relevance in the evaluation of children with ASDs. Taken together, these data provide strong support for the existence and application of high-impact CNVs in the clinical genetic evaluation of children with ASD.

  11. Marooned no more : Newfoundland company hopes new technology means discovery won't be left high and dry

    International Nuclear Information System (INIS)

    Smith, M.

    2006-01-01

    Stranded gas currently makes up between 30 and 80 per cent of proven and potential natural gas reserves. Stranded gas is too remote from markets to be transported via pipeline, and is too small to justify costly liquefied natural gas (LNG) or gas-to-liquids infrastructure. However, emerging gas-to-wire technology may monetize an oil and gas discovery owned by Canadian Imperial Venture Corporation that is secluded on the west side of Newfoundland. Gas-to-wire technology involves generating power at the point of extraction to eliminate transportation costs. The wellsite is located within half a kilometre of the electricity grid. The gas-to-wire solution was proposed by ENEGI, a company that has developed software capable of analyzing multiple development options for stranded gas fields; probabilisitically estimating the risks and returns of a potential investment; and selecting the development plan that maximizes the value of a project. Factors such as recoverable reserves, gas flow rate, price of electricity, the distance to the nearest grid entry-point and the type of generating technology are considered to assess whether a field or group of fields may be suitable for gas-to-wire technology. The software provides detailed analysis of the key economic decision-making criteria through cash-flow analysis and the effect of different financing strategies on future balance sheets. The ENEGI knowledge base has a number of associated models consisting of a collection of algorithms with associated sets of data. ENEGI intends to use its scoping capability to identify suitable stranded gas assets and to demonstrate the value that may be added through a gas-to-wire solution. A recent detailed study conducted by the company has suggested that gas-to-wire may be a profitable option for many stranded gas fields. 2 figs

  12. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

    Science.gov (United States)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda; Lodahl, Marianne; Tranebjærg, Lisbeth; Cesur, Yasar; Dogan, Murat; Yilmaz, Cahide; Akgun, Cihangir; Acikgoz, Mehmet

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  13. A large inversion in the linear chromosome of Streptomyces griseus caused by replicative transposition of a new Tn3 family transposon.

    Science.gov (United States)

    Murata, M; Uchida, T; Yang, Y; Lezhava, A; Kinashi, H

    2011-04-01

    We have comprehensively analyzed the linear chromosomes of Streptomyces griseus mutants constructed and kept in our laboratory. During this study, macrorestriction analysis of AseI and DraI fragments of mutant 402-2 suggested a large chromosomal inversion. The junctions of chromosomal inversion were cloned and sequenced and compared with the corresponding target sequences in the parent strain 2247. Consequently, a transposon-involved mechanism was revealed. Namely, a transposon originally located at the left target site was replicatively transposed to the right target site in an inverted direction, which generated a second copy and at the same time caused a 2.5-Mb chromosomal inversion. The involved transposon named TnSGR was grouped into a new subfamily of the resolvase-encoding Tn3 family transposons based on its gene organization. At the end, terminal diversity of S. griseus chromosomes is discussed by comparing the sequences of strains 2247 and IFO13350.

  14. Linkage of familial Alzheimer disease to chromosome 14 in two large early-onset pedigrees: effects of marker allele frequencies on lod scores.

    Science.gov (United States)

    Nechiporuk, A; Fain, P; Kort, E; Nee, L E; Frommelt, E; Polinsky, R J; Korenberg, J R; Pulst, S M

    1993-05-01

    Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. In addition to sporadic forms of AD, familial forms (FAD) have been recognized. Mutations in the amyloid precursor protein (APP) gene on chromosome (CHR) 21 have been shown to cause early-onset AD in a small number of pedigrees. Recently, linkage to markers on CHR 14 has been established in several early-onset FAD pedigrees. We now report lod scores for CHR 14 markers in two large early-onset FAD pedigrees. Pairwise linkage analysis suggested that in these pedigrees the mutation is tightly linked to the loci D14S43 and D14S53. However, assumptions regarding marker allele frequencies had a major and often unpredictable effect on calculated lod scores. Therefore, caution needs to be exercised when single pedigrees are analyzed with marker allele frequencies determined from the literature or from a pool of spouses.

  15. The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

    Science.gov (United States)

    Shaw, Liam; Ribeiro, Andre L R; Levine, Adam P; Pontikos, Nikolas; Balloux, Francois; Segal, Anthony W; Roberts, Adam P; Smith, Andrew M

    2017-09-12

    The human microbiome is affected by multiple factors, including the environment and host genetics. In this study, we analyzed the salivary microbiomes of an extended family of Ashkenazi Jewish individuals living in several cities and investigated associations with both shared household and host genetic similarities. We found that environmental effects dominated over genetic effects. While there was weak evidence of geographical structuring at the level of cities, we observed a large and significant effect of shared household on microbiome composition, supporting the role of the immediate shared environment in dictating the presence or absence of taxa. This effect was also seen when including adults who had grown up in the same household but moved out prior to the time of sampling, suggesting that the establishment of the salivary microbiome earlier in life may affect its long-term composition. We found weak associations between host genetic relatedness and microbiome dissimilarity when using family pedigrees as proxies for genetic similarity. However, this association disappeared when using more-accurate measures of kinship based on genome-wide genetic markers, indicating that the environment rather than host genetics is the dominant factor affecting the composition of the salivary microbiome in closely related individuals. Our results support the concept that there is a consistent core microbiome conserved across global scales but that small-scale effects due to a shared living environment significantly affect microbial community composition. IMPORTANCE Previous research shows that the salivary microbiomes of relatives are more similar than those of nonrelatives, but it remains difficult to distinguish the effects of relatedness and shared household environment. Furthermore, pedigree measures may not accurately measure host genetic similarity. In this study, we include genetic relatedness based on genome-wide single nucleotide polymorphisms (SNPs) (rather than

  16. The Role of Family in Family Firms

    OpenAIRE

    Marianne Bertrand; Antoinette Schoar

    2006-01-01

    History is replete with examples of spectacular ascents of family businesses. Yet there are also numerous accounts of family businesses brought down by bitter feuds among family members, disappointed expectations between generations, and tragic sagas of later generations unable to manage their wealth. A large fraction of businesses throughout the world are organized around families. Why are family firms so prevalent? What are the implications of family control for the governance, financing an...

  17. Identification of a novel large intragenic deletion in a family with Fanconi anemia: first molecular report from India and review of literature.

    Science.gov (United States)

    Shukla, Pallavi; Rao, Anita; Ghosh, Kanjaksha; Vundinti, Babu Rao

    2013-04-15

    We report here an Indian case with Fanconi anemia (FA) presented with fever, pallor, short stature, hyperpigmentation and upper limb anomaly. Chromosome breakage analysis together with FANCD2 Western blot monoubiquitination assay confirmed the diagnosis as FA. Multiplex ligation-dependent probe amplification (MLPA) revealed a novel homozygous large intragenic deletion (exons 8-27 del) in the FANCA gene in the proband. His sib and parents were also analyzed and found to be heterozygous for the same mutation. We also reviewed the literature of FANCA large intragenic deletions found in FA patients from different countries and the mechanism involved in the formation of these deletions. To the best of our knowledge, this is the first molecular report from India on FA. The finding expands the mutation spectrum of the FANCA gene. Identification of the mutation confirms the diagnosis of FA at DNA level and helps in providing proper genetic counseling to the family. Copyright © 2013 Elsevier B.V. All rights reserved.

  18. Atlas of physical oceanographic data for current surge studies on the Grand Bark of Newfoundland, 1985

    Energy Technology Data Exchange (ETDEWEB)

    Sandstrom, H; Elliott, J A [Physical and Chemical Sciences Branch, Dept. of Fisheries and Oceans, Dartmouth, NS (Canada)

    1989-04-01

    This is the fourth in a series of atlases prepared to study the incidence of tidally generated large amplitude internal waves and associated current surges along east coast continental shelves. This atlas covers CSS DAWSON cruise 85-024 to the edge of the Grand Banks in the vicinity and to the east of the Hibernia exploration area. The field data were collected near the shelf edge and extending into Flemish Pass centered on 47 N latitude from August 13-28, 1985. Two moorings were deployed and recovered. CTD, BATFISH, Ametek Straza Acoustc Doppler Current Profiler, and 12 kHz Raytheon Sounder equipment were operated from the ship. SLAR (Side Looking Aperture Radar) flights during the summer of 1984 had indicated the presence of groups of high amplitude internal waves near the shelf edge, similar to those on the Scotian Shelf studied during earlier cruises. This cruise studied the nature of the internal tide and the short waves and compared the process to that in the Scotian Gulf and near the Gully, being cognizant of the contrasting density profiles and bathymetry. 5 refs, 451 figs.

  19. Revised Late Oligocene to Early Miocene magnetic stratigraphy recorded by drift sediments at Sites U1405 and U1406, IODP Expedition 342 (Newfoundland, NW Atlantic)

    Science.gov (United States)

    van Peer, Tim; Xuan, Chuang; Wilson, Paul; Liebrand, Diederik; Lippert, Peter

    2015-04-01

    The nannofossil oozes drilled at IODP Expedition 342 (Paleogene Newfoundland Sediment Drifts) Sites U1405 and U1406 provide an exceptional sedimentary archive of the Late Oligocene to Early Miocene due to high sedimentation rates (2-6 cm/kyr at U1406 and up to 20 cm/kyr at U1405) and their ideal location below the Deep Western Boundary Current. These drift sediment sequences provide a unique opportunity to study the Oligocene-Miocene Transition (OMT) and Mi1-event (a transient 1‰ positive oxygen isotope excursion) at an unprecedented resolution from a Northern Hemisphere perspective. The exact timing of the OMT and its rate of change require a reliable and high-resolution magnetic stratigraphic age control, as Chron C6Cn with its three subchrons roughly spans the Mi1 event and the reversal C6Cn.2n/C6Cn.2r defines the Oligocene-Miocene boundary. Natural Remanent Magnetisation (NRM) was measured on 140 m of u-channel samples at U1405 and 190 m at U1406. The u-channel sample based magnetostratigraphy is in good agreement with that based on the shipboard data and reveal distinctive well-defined patterns of normal and reversed polarities, which can be correlated to the Geomagnetic Polarity Time Scale between C6Bn.2n and C9n (ca. 22.2 to 27 Ma) at U1406 and between C6Bn.2n and C6Cr (ca. 22.2 to 23.5 Ma) at U1405. Furthermore, putative cryptochrons in Chron C6Br and C7Ar, previously reported at Site U1334 (IODP Expedition 320), are observed in the u-channel magnetic stratigraphy for Sites U1405 and U1406. Anhysteretic Remanent Magnetisation (ARM) intensity variations are combined with X-Ray Fluorescence (XRF) generated elemental measurements to refine the shipboard splice of both U1405 and U1406. Latest Oligocene to earliest Miocene splice refinements are complicated by the presence of large-scale stratigraphic gaps (up to 25 m at U1405) unrelated to drilling disturbances. The depth and estimated age of these stratigraphic gaps vary from hole to hole, and do not appear

  20. Extensional fault geometry and its flexural isostatic response during the formation of the Iberia - Newfoundland conjugate rifted margins

    Science.gov (United States)

    Gómez-Romeu, Júlia; Kusznir, Nick; Manatschal, Gianreto; Roberts, Alan

    2017-04-01

    Despite magma-poor rifted margins having been extensively studied for the last 20 years, the evolution of extensional fault geometry and the flexural isostatic response to faulting remain still debated topics. We investigate how the flexural isostatic response to faulting controls the structural development of the distal part of rifted margins in the hyper-extended domain and the resulting sedimentary record. In particular we address an important question concerning the geometry and evolution of extensional faults within distal hyper-extended continental crust; are the seismically observed extensional fault blocks in this region allochthons from the upper plate or are they autochthons of the lower plate? In order to achieve our aim we focus on the west Iberian rifted continental margin along the TGS and LG12 seismic profiles. Our strategy is to use a kinematic forward model (RIFTER) to model the tectonic and stratigraphic development of the west Iberia margin along TGS-LG12 and quantitatively test and calibrate the model against breakup paleo-bathymetry, crustal basement thickness and well data. RIFTER incorporates the flexural isostatic response to extensional faulting, crustal thinning, lithosphere thermal loads, sedimentation and erosion. The model predicts the structural and stratigraphic consequences of recursive sequential faulting and sedimentation. The target data used to constrain model predictions consists of two components: (i) gravity anomaly inversion is used to determine Moho depth, crustal basement thickness and continental lithosphere thinning and (ii) reverse post-rift subsidence modelling consisting of flexural backstripping, decompaction and reverse post-rift thermal subsidence modelling is used to give paleo-bathymetry at breakup time. We show that successful modelling of the structural and stratigraphic development of the TGS-LG12 Iberian margin transect also requires the simultaneous modelling of the Newfoundland conjugate margin, which we

  1. A missense mutation in the alpha-actinin 1 gene (ACTN1 is the cause of autosomal dominant macrothrombocytopenia in a large French family.

    Directory of Open Access Journals (Sweden)

    Paul Guéguen

    Full Text Available Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited thrombocytopenia still remain unexplained in terms of the underlying pathogenic mechanisms. Here we report a six-generation French pedigree with an autosomal dominant mode of inheritance and the identification of its genetic basis. Of the 55 subjects available for analysis, 26 were diagnosed with isolated macrothrombocytopenia. Genome-wide linkage analysis mapped a 10.9 Mb locus to chromosome 14 (14q22 with a LOD score of 7.6. Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln in the alpha-actinin 1 gene (ACTN1 that segregated with macrothrombocytopenia in this large pedigree. The missense mutation occurred within actin-binding domain of alpha-actinin 1, a functionally critical domain that crosslinks actin filaments into bundles. The evaluation of cultured mutation-harboring megakaryocytes by electron microscopy and the immunofluorescence examination of transfected COS-7 cells suggested that the mutation causes disorganization of the cellular cytoplasm. Our study concurred with a recently published whole-exome sequence analysis of six small Japanese families with congenital macrothrombocytopenia, adding ACTN1 to the growing list of thrombocytopenia genes.

  2. Differential protein expression, DNA binding and interaction with SV40 large tumour antigen implicate the p63-family of proteins in replicative senescence.

    Science.gov (United States)

    Djelloul, Siham; Tarunina, Marina; Barnouin, Karin; Mackay, Alan; Jat, Parmjit S

    2002-02-07

    P53 activity plays a key role in mammalian cells when they undergo replicative senescence at their Hayflick limit. To determine whether p63 proteins, members of the family of p53-related genes, are also involved in this process, we examined their expression in serially passaged rat embryo fibroblasts. Upon senescence, two truncated DeltaNp63 proteins decreased in abundance whereas two TAp63 isoforms accumulated. 2-D gel analysis showed that the DeltaNp63 proteins underwent post-translational modifications in both proliferating and senescent cells. Direct binding of DeltaNp63 proteins to a p53 consensus motif was greater in proliferating cells than senescent cells. In contrast p63alpha isoforms bound to DNA in a p53 dependent manner and this was higher in senescent cells than proliferating cells. An interaction of p63alpha proteins with SV40 large tumour antigen was also detected and ectopic expression of DeltaNp63alpha can extend the lifespan of rat embryo fibroblasts. Taken together the results indicate that p63 proteins may play a role in replicative senescence either by competition for p53 DNA binding sites or by direct interaction with p53 protein bound to DNA.

  3. Using crustal thickness, subsidence and P-T-t history on the Iberia-Newfoundland & Alpine Tethys margins to constrain lithosphere deformation modes during continental breakup

    Science.gov (United States)

    Jeanniot, L.; Kusznir, N. J.; Manatschal, G.; Mohn, G.; Beltrando, M.

    2013-12-01

    Observations at magma-poor rifted margins such as Iberia-Newfoundland show a complex lithosphere deformation history and OCT architecture, resulting in hyper-extended continental crust and lithosphere, exhumed mantle and scattered embryonic oceanic crust before continental breakup and seafloor spreading. Initiation of seafloor spreading requires both the rupture of the continental crust and lithospheric mantle, and the onset of decompressional melting. Their relative timing controls when mantle exhumation may occur; the presence or absence of exhumed mantle provides useful information on the timing of these events and constraints on lithosphere deformation modes. A single kinematic lithosphere deformation mode leading to continental breakup and sea-floor spreading cannot explain observations. We have determined the sequence of lithosphere deformation events, using forward modelling of crustal thickness, subsidence and P-T-t history calibrated against observations on the present-day Iberia-Newfoundland and the fossil analogue Alpine Tethys margins. Lithosphere deformation modes, represented by flow fields, are generated by a 2D finite element viscous flow model (FeMargin), and used to advect lithosphere and asthenosphere temperature and material. FeMargin is kinematically driven by divergent deformation in the topmost upper lithosphere inducing passive upwelling beneath that layer; the upper lithosphere is assumed to deform by extensional faulting and magmatic intrusions, consistent with observations of deformation processes occurring at slow spreading ocean ridges (Cannat, 1996). Buoyancy enhanced upwelling is also included in the kinematic model as predicted by Braun et al (2000). We predict melt generation by decompressional melting using the parameterization and methodology of Katz et al., 2003. We use a series of numerical experiments, tested and calibrated against crustal thicknesses and subsidence observations, to determine the distribution of lithosphere

  4. Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoB

    NARCIS (Netherlands)

    van der Hoek, Y. Y.; Lingenhel, A.; Kraft, H. G.; Defesche, J. C.; Kastelein, J. J.; Utermann, G.

    1997-01-01

    Whether or not Lp(a) plasma levels are affected by the apoB R3500Q mutation, which causes Familial Defective apoB (FDB), is still a matter of debate. We have analyzed 300 family members of 13 unrelated Dutch index patients for the apoB mutation and the apolipoprotein(a) [apo(a)] genotype. Total

  5. Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1

    DEFF Research Database (Denmark)

    Skoglund, J; Djureinovic, T; Zhou, X-L

    2006-01-01

    BACKGROUND: The best known hereditary colorectal cancer syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), constitute about 2% of all colorectal cancers, and there are at least as many non-FAP, non-HNPCC cases where the family history suggests...... a dominantly inherited colorectal cancer risk. Recently, a locus on chromosome 9q22.2-31.2 was identified by linkage analysis in sib pairs with colorectal cancer or adenoma. METHODS: Linkage analysis for the suggested locus on chromosome 9 was carried out in an extended Swedish family. This family had...... previously been investigated but following the identification of adenomas in several previously unaffected family members, these subjects were now considered to be gene carriers. RESULTS: In the present study, we found linkage of adenoma and colorectal cancer to chromosome 9q22.32-31.1 with a multipoint LOD...

  6. Summary of some studies on Kalmia angustifolia L.: A problem species in newfoundland forestry. Information report No. N-X-296

    Energy Technology Data Exchange (ETDEWEB)

    Titus, B D; Sidhu, S S; Mallik, A U

    1996-12-31

    The shrub known as sheep laurel or lambkill (Kalmia angustifolia L.) is commonly found as an understory component of black spruce forests, and can proliferate rapidly after stand disturbances. Subsequent regeneration and growth of spruce on Kalmia-dominated sites is often poor, and a greater understanding of the ecology of Kalmia and its interactions with black spruce is required for the management of such sites. This report reviews a series of field, greenhouse, and laboratory studies on the biology of Kalmia. It describes the phytological associations of the shrub in Newfoundland, its method of reproduction and propagation, seed germination requirements, soil requirements for adequate regeneration, and histology. Study results reported include the factors inhibiting black spruce growth by Kalmia and the response of Kalmia to control treatments. The report concludes with silvicultural recommendations to address the Kalmia problem.

  7. Decision 97.02 : Application for approval of the Terra Nova Canada-Newfoundland benefits plan and the Terra Nova development plan

    International Nuclear Information System (INIS)

    1997-12-01

    Petro-Canada applied to the Canada-Newfoundland Offshore Petroleum Board (the Board) for approval of its plan for the development of the Terra Nova oil and gas field of the Jeanne d'Arc Formation located about 35 km southeast of the Hibernia oilfield. Petro-Canada also submitted a benefits plan. The Board established the Terra Nova Project Environmental Assessment Panel to conduct a public review of the application and to ensure that the potential effects of the project upon the natural environment would be minimal. The Panel recommended approval of the application, subject to 75 recommendations. The Board considered the recommendations of the Panel and approved the Benefits Plan and the Development Plan subject to certain conditions being met. This document provides the details of the application, the bases for the Board's decision, the conditions imposed, and the 75 recommendations made by the Environmental Assessment Panel. . 6 tabs., 6 figs

  8. Evaluation of the toxicity of the weathered crude oil used at the Newfoundland Offshore Burn Experiment (NOBE) and the resultant burn residue

    International Nuclear Information System (INIS)

    Blenkinsopp, S.; Sergy, G.; Doe, K.; Wohlgeschaffen, G.; Li, K.; Fingas, M.

    1997-01-01

    Toxicity of the weathered crude oil Alberta Sweet Mixed Blend (ASMB) used at the Newfoundland Offshore Burn Experiment (NOBE), and the resultant burn residue was evaluated using the newly developed Environment Canada water-accomodated fraction (WAF) method and exposure protocol. Rainbow trout, three-spine stickleback and gametes of sea urchins were exposed to saltwater WAF prepared from both weathered ASMB and burn residue. Gas chromatography/ mass spectrometry headspace analysis of 28 analytes showed low levels of volatile hydrocarbons after 96 hours of exposure (except for sea urchins, in which case the test was only 20 minutes in duration). All samples were found to be not toxic to all species tested. 10 refs., 2 tabs

  9. Jervell and Lange-Nielsen syndrome in a father and daughter from a large highly inbred family: a 16-year follow-up of 59 living members.

    Science.gov (United States)

    Sanyal, Shyamal Kumar; Kaul, Kanwar K; Hussein, Akhtar; Wilroy, Robert S; Agarwal, Kisan; Sohel, Saira

    2013-08-01

    To report the autosomal dominant inheritance of the Jervell and Lange-Nielsen syndrome in a highly inbred family, the initiation of Torsades de Pointes, and the natural history of the syndrome based on a 16-year follow-up of the kindred. A family tree was constructed that included 66 blood relatives from three successive generations. Electrocardiograms were obtained from 59 living members including the proband, four members from a nuclear family, and 54 from the extended family. Evoked response audiometry was recorded for the proband and the nuclear family. All 59 family members were followed up regularly for 16 years. A total of 24 living members were affected--QTc: 480-680 ms. The proband had long QTc, bilateral high-tone sensorineural deafness, recurrent syncope, and Torsades de Pointes. The asymptomatic father had long QTc and unilateral high-tone sensorineural deafness that involved specifically the left ear. One asymptomatic sibling of the proband had long QTc and normal hearing. The mother and another sibling were asymptomatic; QTc and hearing were normal in both. A total of 21 affected members from the extended family had only long QTc, and all were asymptomatic. There were three congenitally deaf first cousins who had recurrent syncope and adrenergic-triggered sudden death. In all, seven of 10 parents had consanguineous marriage to a first cousin. Each affected offspring had at least one affected parent. The severely symptomatic proband who received only β-blocker therapy and the 23 affected members without antiadrenergic therapy, all remained asymptomatic throughout the 16-year follow-up period. Jervell and Lange-Nielsen syndrome was inherited as autosomal dominant in this kindred. The majority of the affected members had a mild phenotype. The severity of auditory and cardiac phenotypes corresponded.

  10. Patient and family members perspectives on radioactive iodine treatment

    Energy Technology Data Exchange (ETDEWEB)

    McGrath, P.; Fitch, M.I. [Toronto-Sunnybrook Regional Cancer Centre, Toronto, Ontario (Canada)

    1999-08-01

    This report documents the findings of a survey of patients who received radioactive iodine therapy and their family members. The main objective of the survey was to gain an understanding of the experience of receiving radioactive iodine from the patient and family's perspective. The data from this study helped to inform the ARCP and GMA as they developed AC-9 - Principles of the management of radionuclide therapies. A survey was distributed to 700 patients and family members through physicians at 8 sites across Canada. Locations included: Newfoundland, Nova Scotia, Ontario (2 sites), Quebec (2 sites), Manitoba and British Columbia. A total of 190 patients and 140 family members returned completed surveys. Data was analyzed separately for individuals treated as inpatients and those treated as outpatients. The results of the survey provided a perspective from patients and families about their experiences regarding radioactive iodine therapy. The data indicate variation in patients' and family members' perspectives about how precautions are to be implemented. Both patients and family members expressed the desire for more information regarding many aspects of the treatment experience. The results have implications for the development of patient information, continuing education (in particular in the areas of precaution), the provision of access to supportive and counselling services, and the importance of looking at the individual situations of patients and their families. (author)

  11. Patient and family members perspectives on radioactive iodine treatment

    International Nuclear Information System (INIS)

    McGrath, P.; Fitch, M.I.

    1999-08-01

    This report documents the findings of a survey of patients who received radioactive iodine therapy and their family members. The main objective of the survey was to gain an understanding of the experience of receiving radioactive iodine from the patient and family's perspective. The data from this study helped to inform the ARCP and GMA as they developed AC-9 - Principles of the management of radionuclide therapies. A survey was distributed to 700 patients and family members through physicians at 8 sites across Canada. Locations included: Newfoundland, Nova Scotia, Ontario (2 sites), Quebec (2 sites), Manitoba and British Columbia. A total of 190 patients and 140 family members returned completed surveys. Data was analyzed separately for individuals treated as inpatients and those treated as outpatients. The results of the survey provided a perspective from patients and families about their experiences regarding radioactive iodine therapy. The data indicate variation in patients' and family members' perspectives about how precautions are to be implemented. Both patients and family members expressed the desire for more information regarding many aspects of the treatment experience. The results have implications for the development of patient information, continuing education (in particular in the areas of precaution), the provision of access to supportive and counselling services, and the importance of looking at the individual situations of patients and their families. (author)

  12. Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

    Science.gov (United States)

    Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A

    2013-04-01

    In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.

  13. A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma

    OpenAIRE

    Silva, Adriana Madeira Alvares da [UNIFESP; Maciel, Rui Monteiro de Barros [UNIFESP; Dias-da-Silva, Magnus Régios [UNIFESP; Toledo, Silvia Regina Caminada de [UNIFESP; De Carvalho, Marcos B.; Cerutti, Janete Maria [UNIFESP

    2003-01-01

    Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainly in cysteine codon 10 or 11, whereas noncysteine mutations in codons 13 - 15 are rare. We now report a new missense point mutation in exon 8 of the RET gene (1597G-->T) corresponding to a Gly(533)Cys substitution in the cystein-rich domain of RET protein in 76 patients from a 6-generation Brazilian family with 229 subjects, with ascendants from Spain. It is likely that the mutation causes familia...

  14. A family-wide rt-pcr assay for detection of paramyxoviruses and application to a large-scale surveillance study

    NARCIS (Netherlands)

    S. van Boheemen (Sander); T.M. Bestebroer (Theo); J.H. Verhagen (Josanne); A.D.M.E. Osterhaus (Albert); S.D. Pas (Suzan); S. Herfst (Sander); R.A.M. Fouchier (Ron)

    2012-01-01

    textabstractFamily-wide molecular diagnostic assays are valuable tools for initial identification of viruses during outbreaks and to limit costs of surveillance studies. Recent discoveries of paramyxoviruses have called for such assay that is able to detect all known and unknown paramyxoviruses in

  15. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder

    NARCIS (Netherlands)

    Bok, Levinus A.; Vreken, Peter; Wijburg, Frits A.; Wanders, Ronald J. A.; Gregersen, Niels; Corydon, Morten J.; Waterham, Hans R.; Duran, Marinus

    2003-01-01

    OBJECTIVE: To understand the expanding clinical and biochemical spectrum of short-chain acyl-CoA dehydrogenase (SCAD) deficiency, the impact of which is not fully understood. STUDY DESIGN: We studied a family with SCAD deficiency and determined urinary ethylmalonic acid excretion, plasma

  16. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation

    DEFF Research Database (Denmark)

    Siggaard, C; Rittig, S; Corydon, T J

    1999-01-01

    The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by postnatal onset of polyuria and a deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). Since 1991, adFNDI has been linked to 31 different mutations...

  17. Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit/Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

    Science.gov (United States)

    Mathews, Carol A.; Grados, Marco A.

    2011-01-01

    Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…

  18. Familial macrocephaly

    International Nuclear Information System (INIS)

    Tatsuno, Masaru; Hayashi, Michiko; Iwamoto, Hiroko

    1984-01-01

    We reported 63 macrocephalic children with special emphasis on 16 cases with familial macrocephaly. Of the 16 children with familial macrocephaly, 13 were boys. Foureen parents (13 fathers and 1 mother) had head sizes above 98th percentile. Three of 5 brothers and 5 of 8 sisters also had large heads. The head circumference at birth was known for 14 of the children and it was above the 98th percentile in 7 patients. Subsequent evaluations have shown the head size of these children to be following a normal growth curve. Some of the children were hypotonic as infants, but their development was generally normal. CT scans usually clearly distinguished these children from those with hydorocephalus. The familial macrocephalic children had ventricular measurements which were within the normal range, but absolute measurements of the ventricular size may be misleading, because the CT appearance was of mildly dilated ventricles in half of them. (author)

  19. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

    Science.gov (United States)

    Kullar, Peter J; Gomez-Duran, Aurora; Gammage, Payam A; Garone, Caterina; Minczuk, Michal; Golder, Zoe; Wilson, Janet; Montoya, Julio; Häkli, Sanna; Kärppä, Mikko; Horvath, Rita; Majamaa, Kari; Chinnery, Patrick F

    2018-01-01

    The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing loss in a multi-generational family transmitting m.1555A>G, associated with mtDNA depletion and multiple deletions in skeletal muscle. The SSBP1 mutation reduced steady state SSBP1 levels leading to a perturbation of mtDNA metabolism, likely compounding the intra-mitochondrial translation defect due to m.1555A>G in a tissue-specific manner. This family demonstrates the importance of rare trans-acting genetic nuclear modifiers in the clinical expression of mtDNA disease. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

  20. A simple and rapid micromethod for genomic DNA extraction from jugal epithelial cells. Application to human lymphocyte antigen typing in one large family of atopic/asthmatic probands.

    Science.gov (United States)

    Aron, Y; Swierczewski, E; Lockhart, A

    1994-10-01

    We describe a rapid and reliable micromethod for DNA isolation from buccal epithelial cells from the interior mouth mucosa. This convenient, noninvasive method could be applied to genetic typing in a small number of cells (about 2000 cells per cheek). We have shown that DNA released by this method is suitable for further amplification by polymerase chain reaction (PCR). Using this protocol, coupled with the PCR-RFLP (restriction fragment length polymorphism) method, we analyzed the allelic sequence diversity of the human lymphocyte antigen (HLA) class II genes in an extended family of 33 persons containing 14 asthmatic or atopic members. Six of eight DQA1 alleles, and 11 DQB1, 20 DPB1, and 10 DR haplotypes could be identified in a single DNA sample. Our results suggest that the DR53 group haplotype is frequently associated with allergic asthma and atopy. The micromethod described here may be useful in genetic epidemiology, especially in family studies involving small children.

  1. Family welfare.

    Science.gov (United States)

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  2. Assessing the Causality Factors in the Association between (Abdominal Obesity and Physical Activity among the Newfoundland Population–-A Mendelian Randomization Analysis

    Directory of Open Access Journals (Sweden)

    Frank Barning

    2016-01-01

    Full Text Available A total of 1,263 adults from Newfoundland and Labrador were studied in the research. Body mass index (BMI and percent trunk fat (PTF were analyzed as biomarkers for obesity. The Mendelian randomization (MR approach with two single-nucleotide polymorphisms in the fat-mass and obesity (FTO gene as instruments was employed to assess the causal effect. In both genders, increasing physical activity significantly reduced BMI and PTF when adjusted for age and the FTO gene. The effect of physical activity was stronger on PTF than BMI. Direct observational analyses showed significant increase in BMI/PTF when physical activity decreased. A similar association in MR analyses was not significant. The association between physical activity and BMI/PTF could be due to reversed causality or common confounding factors. Our study provides insights into the causal contributions of obesity to physical activity in adults. Health intervention strategies to increase physical activity among adults should include some other plans such as improving diet for reducing obesity.

  3. Eastern Canada offshore report/Nordco (Newfoundland Ocean Research and Development Corp. Ltd. ) offers technical expertise to industry through applied R and D (research and development)

    Energy Technology Data Exchange (ETDEWEB)

    Jones, G

    1979-07-02

    Nordco's role in offshore R and D emphasizes aspects dealing with sea ice, icebergs, oceanography, including the possible movements of pollutants in an estuary in Labrador, submarine geology, meteorology, and remote sensing, and their impact on the Newfoundland petroleum and fishing industries. Its marine transportation division, with the Bedford Institute of Oceanography, has been studying the possible use of LORAN-C as a navigation aid for offshore eastern Canada, and has been researching ice-caused problems in the Bridport Inlet area, where a northern LNG terminal is planned on Melville Island, and icebreaking techniques, Arctic navigation, and oil and LNG transport. Nordco has also been cooperating with the Geonautics Ltd. consortium, which is involved in pipeline and cable routing and other studies. According to G. Jones (Nordco), the Eastcoast Petroleum Operators Association has also been studying offshore problems, and has set up a project to provide $2 million for oil spill equipment and dispersants where needed. This project is operated by Esso Resources Canada Ltd. and involves eight to ten participants.

  4. Seroprevalence of feline immunodeficiency virus (FIV) and feline leukemia virus (FeLV) in shelter cats on the island of Newfoundland, Canada.

    Science.gov (United States)

    Munro, Hannah J; Berghuis, Lesley; Lang, Andrew S; Rogers, Laura; Whitney, Hugh

    2014-04-01

    Feline immunodeficiency virus (FIV) and feline leukemia virus (FeLV) are retroviruses found within domestic and wild cat populations. These viruses cause severe illnesses that eventually lead to death. Housing cats communally for long periods of time makes shelters at high risk for virus transmission among cats. We tested 548 cats from 5 different sites across the island of Newfoundland for FIV and FeLV. The overall seroprevalence was 2.2% and 6.2% for FIV and FeLV, respectively. Two sites had significantly higher seroprevalence of FeLV infection than the other 3 sites. Analysis of sequences from the FeLV env gene (envelope gene) from 6 positive cats showed that 4 fell within the FeLV subtype-A, while 2 sequences were most closely related to FeLV subtype-B and endogenous feline leukemia virus (en FeLV). Varying seroprevalence and the variation in sequences at different sites demonstrate that some shelters are at greater risk of FeLV infections and recombination can occur at sites of high seroprevalence.

  5. Diaspora, a large family of Ty3-gypsy retrotransposons in Glycine max, is an envelope-less member of an endogenous plant retrovirus lineage.

    Science.gov (United States)

    Yano, Sho T; Panbehi, Bahman; Das, Arpita; Laten, Howard M

    2005-05-05

    The chromosomes of higher plants are littered with retrotransposons that, in many cases, constitute as much as 80% of plant genomes. Long terminal repeat retrotransposons have been especially successful colonizers of the chromosomes of higher plants and examinations of their function, evolution, and dispersal are essential to understanding the evolution of eukaryotic genomes. In soybean, several families of retrotransposons have been identified, including at least two that, by virtue of the presence of an envelope-like gene, may constitute endogenous retroviruses. However, most elements are highly degenerate and are often sequestered in regions of the genome that sequencing projects initially shun. In addition, finding potentially functional copies from genomic DNA is rare. This study provides a mechanism to surmount these issues to generate a consensus sequence that can then be functionally and phylogenetically evaluated. Diaspora is a multicopy member of the Ty3-gypsy-like family of LTR retrotransposons and comprises at least 0.5% of the soybean genome. Although the Diaspora family is highly degenerate, and with the exception of this report, is not represented in the Genbank nr database, a full-length consensus sequence was generated from short overlapping sequences using a combination of experimental and in silico methods. Diaspora is 11,737 bp in length and contains a single 1892-codon ORF that encodes a gag-pol polyprotein. Phylogenetic analysis indicates that it is closely related to Athila and Calypso retroelements from Arabidopsis and soybean, respectively. These in turn form the framework of an endogenous retrovirus lineage whose members possess an envelope-like gene. Diaspora appears to lack any trace of this coding region. A combination of empirical sequencing and retrieval of unannotated Genome Survey Sequence database entries was successfully used to construct a full-length representative of the Diaspora family in Glycine max. Diaspora is presently the

  6. A large complement of the predicted Arabidopsis ARM repeat proteins are members of the U-box E3 ubiquitin ligase family.

    Science.gov (United States)

    Mudgil, Yashwanti; Shiu, Shin-Han; Stone, Sophia L; Salt, Jennifer N; Goring, Daphne R

    2004-01-01

    The Arabidopsis genome was searched to identify predicted proteins containing armadillo (ARM) repeats, a motif known to mediate protein-protein interactions in a number of different animal proteins. Using domain database predictions and models generated in this study, 108 Arabidopsis proteins were identified that contained a minimum of two ARM repeats with the majority of proteins containing four to eight ARM repeats. Clustering analysis showed that the 108 predicted Arabidopsis ARM repeat proteins could be divided into multiple groups with wide differences in their domain compositions and organizations. Interestingly, 41 of the 108 Arabidopsis ARM repeat proteins contained a U-box, a motif present in a family of E3 ligases, and these proteins represented the largest class of Arabidopsis ARM repeat proteins. In 14 of these U-box/ARM repeat proteins, there was also a novel conserved domain identified in the N-terminal region. Based on the phylogenetic tree, representative U-box/ARM repeat proteins were selected for further study. RNA-blot analyses revealed that these U-box/ARM proteins are expressed in a variety of tissues in Arabidopsis. In addition, the selected U-box/ARM proteins were found to be functional E3 ubiquitin ligases. Thus, these U-box/ARM proteins represent a new family of E3 ligases in Arabidopsis.

  7. A Large Complement of the Predicted Arabidopsis ARM Repeat Proteins Are Members of the U-Box E3 Ubiquitin Ligase Family1[w

    Science.gov (United States)

    Mudgil, Yashwanti; Shiu, Shin-Han; Stone, Sophia L.; Salt, Jennifer N.; Goring, Daphne R.

    2004-01-01

    The Arabidopsis genome was searched to identify predicted proteins containing armadillo (ARM) repeats, a motif known to mediate protein-protein interactions in a number of different animal proteins. Using domain database predictions and models generated in this study, 108 Arabidopsis proteins were identified that contained a minimum of two ARM repeats with the majority of proteins containing four to eight ARM repeats. Clustering analysis showed that the 108 predicted Arabidopsis ARM repeat proteins could be divided into multiple groups with wide differences in their domain compositions and organizations. Interestingly, 41 of the 108 Arabidopsis ARM repeat proteins contained a U-box, a motif present in a family of E3 ligases, and these proteins represented the largest class of Arabidopsis ARM repeat proteins. In 14 of these U-box/ARM repeat proteins, there was also a novel conserved domain identified in the N-terminal region. Based on the phylogenetic tree, representative U-box/ARM repeat proteins were selected for further study. RNA-blot analyses revealed that these U-box/ARM proteins are expressed in a variety of tissues in Arabidopsis. In addition, the selected U-box/ARM proteins were found to be functional E3 ubiquitin ligases. Thus, these U-box/ARM proteins represent a new family of E3 ligases in Arabidopsis. PMID:14657406

  8. Extraordinarily large intrinsic magnetodielectric coupling of the Tb member within the Haldane spin-chain family R2BaNiO5

    Science.gov (United States)

    Upadhyay, Sanjay Kumar; Paulose, P. L.; Sampathkumaran, E. V.

    2017-07-01

    The Haldane spin-chain compound Tb2BaNiO5 has been known to order antiferromagnetically below (TN= )63 K . The present magnetic studies on the polycrystals bring out that there is another magnetic transition at a lower temperature (T2=)25 K with pronounced magnetic-field-induced metamagnetic and metaelectric behaviors. Multiferroic features are found below T2 only and not at TN. The most intriguing observation is that the observed change in dielectric constant (Δɛ') is intrinsic and largest (e.g., ˜18% at 15 K) within this Haldane spin-chain family R2BaNiO5 . Taking into account the fact that this trend (that is, the largest value of Δɛ' for the Tb case within this family) correlates well with a similar trend in TN (with the values of TN being ˜55, 58, 53, and 32 K for Gd, Dy, Ho, and Er cases), we believe that the explanation usually offered for this TN behavior in rare-earth systems is applicable for this Δɛ' behavior as well. That is, single-ion anisotropy following crystal-field splitting is responsible for the extraordinary magnetodielectric effect in this Tb case. This work provides a pathway in the field of multiferroics to promote magnetoelectric coupling.

  9. Attitudes towards people with mental illness among psychiatrists, psychiatric nurses, involved family members and the general population in a large city in Guangzhou, China.

    Science.gov (United States)

    Sun, Bin; Fan, Ni; Nie, Sha; Zhang, Minglin; Huang, Xini; He, Hongbo; Rosenheck, Robert A

    2014-01-01

    Stigma towards people with mental illness is believed to be widespread in low and middle income countries. This study assessed the attitudes towards people with mental illness among psychiatrists, psychiatric nurses, involved family members of patients in a psychiatric facility and the general public using a standard 43-item survey (N = 535). Exploratory factor analysis identified four distinctive attitudes which were then compared using Analysis of Covariance (ANCOVA) among the four groups, all with ties to the largest psychiatric facility in Guangzhou, China, adjusting for sociodemographic differences. Four uncorrelated factors expressed preferences for 1) community-based treatment, social integration and a biopsychosocial model of causation, 2) direct personal relationships with people with mental illness, 3) a lack of fear and positive views of personal interactions with people with mental illness, 4) disbelief in superstitious explanations of mental illness. Statistically significant differences favored community-based treatment and biopsychosocial causation (factor 1) among professional groups (psychiatrists and nurses) as compared with family members and the general public (p problems of their relatives and support in their care.

  10. Rollout of community-based family health strategy (programa de saude de familia is associated with large reductions in neonatal mortality in São Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    Alexandra Brentani

    2016-12-01

    Full Text Available Rationale: Several recent studies suggest that Brazil’s Estratégia Saude de Familia (Family Health Strategy-FHS has contributed to declines in mortality at the national and regional level. Comparatively little is known whether this approach is effective in urban populations with relatively easy access to health services. Objectives: To use detailed medical data collected as part of São Paulo’s Western Region project to examine whether the FHS program had an impact on child health in São Paulo, Brazil. Results: No associations were found between FHS and birth weight (OR 1.03, 95% CI 0.93–1.29, gestational length (OR 0.98, 95% CI 0.83–1.15 or stillbirth (OR 1.51, 95% CI 0.75–3.03. FHS eligibility was associated with a 42% reduction in the odds of child mortality (OR 0.58, 95% CI 0.34, 0.91, with largest effect sizes for the early neonatal period (OR 0.18, 95% CI 0.04–0.79. Conclusions: Community based health delivery platforms may be a highly effective way to reduce neonatal mortality in urban areas of low and middle income countries, even when access to general health services is almost universal. Keywords: Infant mortality, Estratégia saude de familia, Family health strategy, Progama de saude de familia, Brazil, Community-based programs

  11. Evaluation of a population-based approach to familial colorectal cancer.

    Science.gov (United States)

    Parfrey, P S; Dicks, E; Parfrey, O; McNicholas, P J; Noseworthy, H; Woods, M O; Negriin, C; Green, J

    2017-05-01

    As Newfoundland has the highest rate of familial colorectal cancer (CRC) in the world, we started a population-based clinic to provide colonoscopic and Lynch syndrome (LS) screening recommendations to families of CRC patients based on family risk. Of 1091 incident patients 51% provided a family history. Seventy-two percent of families were at low or intermediate-low risk of CRC and colonoscopic screening recommendations were provided by letter. Twenty-eight percent were at high and intermediate-high risk and were referred to the genetic counsellor, but only 30% (N = 48) were interviewed by study end. Colonoscopy was recommended more frequently than every 5 years in 35% of families. Lower family risk was associated with older age of proband but the frequency of screening colonoscopy recommendations varied across all age groups, driven by variability in family history. Twenty-four percent had a high MMR predict score for a Lynch syndrome mutation, and 23% fulfilled the Provincial Program criteria for LS screening. A population-based approach in the provision of colonoscopic screening recommendations to families at risk of CRC was limited by the relatively low response rate. A family history first approach to the identification of LS families was inefficient. © 2016 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Identification of an extensive gene cluster among a family of PPOs in Trifolium pratense L. (red clover using a large insert BAC library

    Directory of Open Access Journals (Sweden)

    Thomas Ann

    2009-07-01

    Full Text Available Abstract Background Polyphenol oxidase (PPO activity in plants is a trait with potential economic, agricultural and environmental impact. In relation to the food industry, PPO-induced browning causes unacceptable discolouration in fruit and vegetables: from an agriculture perspective, PPO can protect plants against pathogens and environmental stress, improve ruminant growth by increasing nitrogen absorption and decreasing nitrogen loss to the environment through the animal's urine. The high PPO legume, red clover, has a significant economic and environmental role in sustaining low-input organic and conventional farms. Molecular markers for a range of important agricultural traits are being developed for red clover and improved knowledge of PPO genes and their structure will facilitate molecular breeding. Results A bacterial artificial chromosome (BAC library comprising 26,016 BAC clones with an average 135 Kb insert size, was constructed from Trifolium pratense L. (red clover, a diploid legume with a haploid genome size of 440–637 Mb. Library coverage of 6–8 genome equivalents ensured good representation of genes: the library was screened for polyphenol oxidase (PPO genes. Two single copy PPO genes, PPO4 and PPO5, were identified to add to a family of three, previously reported, paralogous genes (PPO1–PPO3. Multiple PPO1 copies were identified and characterised revealing a subfamily comprising three variants PPO1/2, PPO1/4 and PPO1/5. Six PPO genes clustered within the genome: four separate BAC clones could be assembled onto a predicted 190–510 Kb single BAC contig. Conclusion A PPO gene family in red clover resides as a cluster of at least 6 genes. Three of these genes have high homology, suggesting a more recent evolutionary event. This PPO cluster covers a longer region of the genome than clusters detected in rice or previously reported in tomato. Full-length coding sequences from PPO4, PPO5, PPO1/5 and PPO1/4 will facilitate

  13. Noise abatement technique for large vehicles of bus and truck families; Basu / torakku kei ogata sharyo no tei soon ka gijutsu

    Energy Technology Data Exchange (ETDEWEB)

    Takatsuki, K. [Isuzu Motors Ltd., Tokyo (Japan)

    1997-09-25

    It is remarked that noises in the cab of large buses and large trucks have been reduced about 10dB(A) during last 15 years, and experimental analytical methods for the noise abatement in the cab of these vehicles are introduced together with cases where measures are incorporated. Firstly, contribution to noise by each noise source is explained and a test method of noise exposure by the partial division of a large truck cab is presented, and on the base of the result obtained, it is found that the measures against the engin noise taken in cooperation with car manufacturer reside on the selection of noise absorbing/isolating materials and the actual examples are shown for a truck floor and the upper noise-proof structure of a bus. There are peaks at 100, 250 and 400 Hz on the noise spectra of an admission port, and they correspond to the problematic frequencies. Their analytical methods are presented comprising a speaker test, a simulation analysis and a boundary element method together with models and calculation examples. As for measures against the noise and vibration in the admission system, installation of resonator and vibration isolation by rubber are mentioned. Lastly, a synopsis on noise phenomena of the driving system is established and a twist resonance phenomenon that frequently occurs in the driving system is particularly described including their examples of analysis and countermeasures. 3 refs., 22 figs., 1 tab.

  14. Rollout of community-based family health strategy (programa de saude de familia) is associated with large reductions in neonatal mortality in São Paulo, Brazil.

    Science.gov (United States)

    Brentani, Alexandra; Grisi, Sandra Josefina Ferraz Ellero; Taniguchi, Mauro T; Ferrer, Ana Paula Scoleze; de Moraes Bourroul, Maria Lúcia; Fink, Günther

    2016-12-01

    Several recent studies suggest that Brazil's Estratégia Saude de Familia (Family Health Strategy-FHS) has contributed to declines in mortality at the national and regional level. Comparatively little is known whether this approach is effective in urban populations with relatively easy access to health services. To use detailed medical data collected as part of São Paulo's Western Region project to examine whether the FHS program had an impact on child health in São Paulo, Brazil. No associations were found between FHS and birth weight (OR 1.03, 95% CI 0.93-1.29), gestational length (OR 0.98, 95% CI 0.83-1.15) or stillbirth (OR 1.51, 95% CI 0.75-3.03). FHS eligibility was associated with a 42% reduction in the odds of child mortality (OR 0.58, 95% CI 0.34, 0.91), with largest effect sizes for the early neonatal period (OR 0.18, 95% CI 0.04-0.79). Community based health delivery platforms may be a highly effective way to reduce neonatal mortality in urban areas of low and middle income countries, even when access to general health services is almost universal.

  15. FAMILY BOMBYLIIDAE.

    Science.gov (United States)

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-06-14

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world.

  16. Family Therapy

    Science.gov (United States)

    Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...

  17. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  18. Trends in family tourism

    Directory of Open Access Journals (Sweden)

    Heike A. Schänzel

    2015-03-01

    Full Text Available Purpose – Families represent a large and growing market for the tourism industry. Family tourism is driven by the increasing importance placed on promoting family togetherness, keeping family bonds alive and creating family memories. Predictions for the future of family travel are shaped by changes in demography and social structures. With global mobility families are increasingly geographically dispersed and new family markets are emerging. The purpose of this paper is to discuss the trends that shape the understanding of families and family tourism. Design/methodology/approach – This paper examines ten trends that the authors as experts in the field identify of importance and significance for the future of family tourism. Findings – What emerges is that the future of family tourism lies in capturing the increasing heterogeneity, fluidity and mobility of the family market. Originality/value – The paper contributes to the understanding about the changes taking place in family tourism and what it means to the tourism industry in the future.

  19. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

    DEFF Research Database (Denmark)

    Feldt-Rasmussen, Ulla; Dobrovolny, Robert; Nazarenko, Irina

    2011-01-01

    Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of a-galactosidase A (a-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased a-Gal A activity. However, in female heterozygotes, the a-Gal A activity can range from low t...... on enzyme replacement therapy. Thus, gene dosage analyses can detect large deletions (>50bp) in suspect heterozygotes for X-linked and autosomal dominant diseases that are "sequencing cryptic," resolving molecular diagnostic dilemmas....

  20. Alterations in bottom sediment physical and chemical characteristics at the Terra Nova offshore oil development over ten years of drilling on the grand banks of Newfoundland, Canada

    Science.gov (United States)

    DeBlois, Elisabeth M.; Paine, Michael D.; Kilgour, Bruce W.; Tracy, Ellen; Crowley, Roger D.; Williams, Urban P.; Janes, G. Gregory

    2014-12-01

    This paper describes sediment composition at the Terra Nova offshore oil development. The Terra Nova Field is located on the Grand Banks approximately 350 km southeast of Newfoundland, Canada, at an approximate water depth of 100 m. Surface sediment samples (upper 3 cm) were collected for chemical and particle size analyses at the site pre-development (1997) and in 2000-2002, 2004, 2006, 2008 and 2010. Approximately 50 stations have been sampled in each program year, with stations extending from less than 1 km to a maximum of 20 km from source (drill centres) along five gradients, extending to the southeast, southwest, northeast, northwest and east of Terra Nova. Results show that Terra Nova sediments were contaminated with >C10-C21 hydrocarbons and barium-the two main constituents of synthetic-based drilling muds used at the site. Highest levels of contamination occurred within 1 to 2 km from source, consistent with predictions from drill cuttings dispersion modelling. The strength of distance gradients for >C10-C21 hydrocarbons and barium, and overall levels, generally increased as drilling progressed but decreased from 2006 to 2010, coincident with a reduction in drilling. As seen at other offshore oil development sites, metals other than barium, sulphur and sulphide levels were elevated and sediment fines content was higher in the immediate vicinity (less than 0.5 km) of drill centres in some sampling years; but there was no strong evidence of project-related alterations of these variables. Overall, sediment contamination at Terra Nova was spatially limited and only the two major constituents of synthetic-based drilling muds used at the site, >C10-C21 hydrocarbons and barium, showed clear evidence of project-related alternations.

  1. Deep RNA-Seq profile reveals biodiversity, plant-microbe interactions and a large family of NBS-LRR resistance genes in walnut (Juglans regia) tissues.

    Science.gov (United States)

    Chakraborty, Sandeep; Britton, Monica; Martínez-García, P J; Dandekar, Abhaya M

    2016-03-01

    Deep RNA-Seq profiling, a revolutionary method used for quantifying transcriptional levels, often includes non-specific transcripts from other co-existing organisms in spite of stringent protocols. Using the recently published walnut genome sequence as a filter, we present a broad analysis of the RNA-Seq derived transcriptome profiles obtained from twenty different tissues to extract the biodiversity and possible plant-microbe interactions in the walnut ecosystem in California. Since the residual nature of the transcripts being analyzed does not provide sufficient information to identify the exact strain, inferences made are constrained to the genus level. The presence of the pathogenic oomycete Phytophthora was detected in the root through the presence of a glyceraldehyde-3-phosphate dehydrogenase. Cryptococcus, the causal agent of cryptococcosis, was found in the catkins and vegetative buds, corroborating previous work indicating that the plant surface supported the sexual cycle of this human pathogen. The RNA-Seq profile revealed several species of the endophytic nitrogen fixing Actinobacteria. Another bacterial species implicated in aerobic biodegradation of methyl tert-butyl ether (Methylibium petroleiphilum) is also found in the root. RNA encoding proteins from the pea aphid were found in the leaves and vegetative buds, while a serine protease from mosquito with significant homology to a female reproductive tract protease from Drosophila mojavensis in the vegetative bud suggests egg-laying activities. The comprehensive analysis of RNA-seq data present also unraveled detailed, tissue-specific information of ~400 transcripts encoded by the largest family of resistance (R) genes (NBS-LRR), which possibly rationalizes the resistance of the specific walnut plant to the pathogens detected. Thus, we elucidate the biodiversity and possible plant-microbe interactions in several walnut (Juglans regia) tissues in California using deep RNA-Seq profiling.

  2. Assessment of technical and economical viability for large-scale conversion of single family residential buildings into zero energy buildings in Brazil: Climatic and cultural considerations

    International Nuclear Information System (INIS)

    Pacheco, Miguel; Lamberts, Roberto

    2013-01-01

    This paper addresses the viability of converting single-family residential buildings in Brazil into zero energy buildings (ZEBs). The European Union and the United States aim ZEBs implementation to address ‘peak oil’ and environmental concerns. However, literature shows no agreement on a consensual definition of ZEB. Seeking a Brazilian ZEB definition, this paper addresses PassivHaus and thermal comfort standards for hot climates, source metrics for ZEB, Brazil′s energy mix, residential energy end uses and Brazilian legal framework for residential photovoltaic (PV) generation. Internal Rate of Return for PV systems in two Brazilian cities is calculated under various scenarios. It shows grid parity was reached from April 2012 to November 2012 assuming residential electric tariffs of that period and the financial conditions given by the Brazilian government for the construction of new dams in the Amazon and the lowest rates offered by Brazilian banks to private individuals. Governmental decision to lower electric residential tariffs in November 2012 reduced the scope of grid parity. Later revocation of a tax exemption in April 2013 ended grid parity in Brazil. It concludes, conversely to developed countries, it is the volatile Brazilian energy policy, instead of economical barriers, the main obstacle for ZEB viability in Brazil. - Highlights: • Critique on super insolated buildings as a good solution for hot climates. • PV parity already reached in some parts of Brazil. • Proposal for a zero energy building definition for Brazil. • Critique of the source metric for energy balance in zero energy buildings. • Average roof area in Brazil enough for PV array to meet average energy consumption

  3. Late Embryogenesis Abundant (LEA Constitutes a Large and Diverse Family of Proteins Involved in Development and Abiotic Stress Responses in Sweet Orange (Citrus sinensis L. Osb..

    Directory of Open Access Journals (Sweden)

    Andresa Muniz Pedrosa

    Full Text Available Late Embryogenesis Abundant (LEA proteins are an ubiquitous group of polypeptides that were first described to accumulate during plant seed dehydration, at the later stages of embryogenesis. Since then they have also been recorded in vegetative plant tissues experiencing water limitation and in anhydrobiotic bacteria and invertebrates and, thereby, correlated with the acquisition of desiccation tolerance. This study provides the first comprehensive study about the LEA gene family in sweet orange (Citrus sinensis L. Osb., the most important and widely grown fruit crop around the world. A surprisingly high number (72 of genes encoding C. sinensis LEAs (CsLEAs were identified and classified into seven groups (LEA_1, LEA_2, LEA_3 and LEA_4, LEA_5, DEHYDRIN and SMP based on their predicted amino acid sequences and also on their phylogenetic relationships with the complete set of Arabidopsis thaliana LEA proteins (AtLEAs. Approximately 60% of the CsLEAs identified in this study belongs to the unusual LEA_2 group of more hydrophobic LEA proteins, while the other LEA groups contained a relatively small number of members typically hydrophilic. A correlation between gene structure and motif composition was observed within each LEA group. Investigation of their chromosomal localizations revealed that the CsLEAs were non-randomly distributed across all nine chromosomes and that 33% of all CsLEAs are segmentally or tandemly duplicated genes. Analysis of the upstream sequences required for transcription revealed the presence of various stress-responsive cis-acting regulatory elements in the promoter regions of CsLEAs, including ABRE, DRE/CRT, MYBS and LTRE. Expression analysis using both RNA-seq data and quantitative real-time RT-PCR (qPCR revealed that the CsLEA genes are widely expressed in various tissues, and that many genes containing the ABRE promoter sequence are induced by drought, salt and PEG. These results provide a useful reference for further

  4. Late Embryogenesis Abundant (LEA) Constitutes a Large and Diverse Family of Proteins Involved in Development and Abiotic Stress Responses in Sweet Orange (Citrus sinensis L. Osb.).

    Science.gov (United States)

    Pedrosa, Andresa Muniz; Martins, Cristina de Paula Santos; Gonçalves, Luana Pereira; Costa, Marcio Gilberto Cardoso

    2015-01-01

    Late Embryogenesis Abundant (LEA) proteins are an ubiquitous group of polypeptides that were first described to accumulate during plant seed dehydration, at the later stages of embryogenesis. Since then they have also been recorded in vegetative plant tissues experiencing water limitation and in anhydrobiotic bacteria and invertebrates and, thereby, correlated with the acquisition of desiccation tolerance. This study provides the first comprehensive study about the LEA gene family in sweet orange (Citrus sinensis L. Osb.), the most important and widely grown fruit crop around the world. A surprisingly high number (72) of genes encoding C. sinensis LEAs (CsLEAs) were identified and classified into seven groups (LEA_1, LEA_2, LEA_3 and LEA_4, LEA_5, DEHYDRIN and SMP) based on their predicted amino acid sequences and also on their phylogenetic relationships with the complete set of Arabidopsis thaliana LEA proteins (AtLEAs). Approximately 60% of the CsLEAs identified in this study belongs to the unusual LEA_2 group of more hydrophobic LEA proteins, while the other LEA groups contained a relatively small number of members typically hydrophilic. A correlation between gene structure and motif composition was observed within each LEA group. Investigation of their chromosomal localizations revealed that the CsLEAs were non-randomly distributed across all nine chromosomes and that 33% of all CsLEAs are segmentally or tandemly duplicated genes. Analysis of the upstream sequences required for transcription revealed the presence of various stress-responsive cis-acting regulatory elements in the promoter regions of CsLEAs, including ABRE, DRE/CRT, MYBS and LTRE. Expression analysis using both RNA-seq data and quantitative real-time RT-PCR (qPCR) revealed that the CsLEA genes are widely expressed in various tissues, and that many genes containing the ABRE promoter sequence are induced by drought, salt and PEG. These results provide a useful reference for further exploration of

  5. From node-line semimetals to large-gap quantum spin Hall states in a family of pentagonal group-IVA chalcogenide

    Science.gov (United States)

    Zhang, Run-Wu; Liu, Cheng-Cheng; Ma, Da-Shuai; Yao, Yugui

    2018-03-01

    Two-dimensional (2D) topological insulators (TIs) have attracted tremendous research interest from both the theoretical and the experimental fields in recent years. However, it is much less investigated in realizing node line (NL) semimetals in 2D materials. Combining first-principles calculations and symmetry analysis, we find that NL phases emerge in p -CS2 and p -SiS2 , as well as other pentagonal IVX2 films, i.e., p -IVX2 (IV= C, Si, Ge, Sn, Pb; X=S, Se, Te) in the absence of spin-orbit coupling (SOC). The NLs in p -IVX2 consist of symbolic Fermi loops centered around the Γ point and are protected by mirror reflection symmetry. As the atomic number is downward shifted, the NL semimetals are driven into 2D TIs with the large bulk gap up to 0.715 eV induced by the remarkable SOC effect. The nontrivial bulk gap can be tunable under external biaxial strain and uniaxial strain. Moreover, we also propose a quantum well by sandwiching a p -PbTe2 crystal between two NaI sheets in which p -PbTe2 still keeps its nontrivial topology with a sizable band gap (˜0.5 eV). These findings provide a new 2D material platform for exploring fascinating physics in both NL semimetals and TIs.

  6. Inter-Provincial Migration Intentions of Family Physicians in Canada: The Roles of Income and Community Characteristics.

    Science.gov (United States)

    Mou, Haizhen; Olfert, M Rose

    2015-11-01

    The inter-provincial migration patterns of family physicians in canada show that some provinces like newfoundland and saskatchewan experience persistent net out-migration, while others, including ontario and british columbia, are destinations more often than origins of migrants. Governments in provinces exhibiting net out-migration have responded with a number of incentive and recruitment programs. In this study, we investigate the determinants of the stated interprovincial migration intentions of 3,995 rural and urban family physicians in the 2010 wave of the national physician survey. We consider a range of physician characteristics, community attributes and working conditions. We find that in the intention to move, higher compensation has a modest effect, while the community characteristics have a consistently important influence. Our results suggest that policy and program designers should acknowledge the critical role of community-level living and working conditions in their family physician recruitment and retention efforts. Copyright © 2015 Longwoods Publishing.

  7. Heuristic Relative Entropy Principles with Complex Measures: Large-Degree Asymptotics of a Family of Multi-variate Normal Random Polynomials

    Science.gov (United States)

    Kiessling, Michael Karl-Heinz

    2017-10-01

    Let z\\in C, let σ ^2>0 be a variance, and for N\\in N define the integrals E_N^{}(z;σ ) := {1/σ } \\int _R\\ (x^2+z^2) e^{-{1/2σ^2 x^2}}{√{2π }}/dx \\quad if N=1, {1/σ } \\int _{R^N} \\prod \\prod \\limits _{1≤ k1. These are expected values of the polynomials P_N^{}(z)=\\prod _{1≤ n≤ N}(X_n^2+z^2) whose 2 N zeros ± i X_k^{}_{k=1,\\ldots ,N} are generated by N identically distributed multi-variate mean-zero normal random variables {X_k}N_{k=1} with co-variance {Cov}_N^{}(X_k,X_l)=(1+σ ^2-1/N)δ _{k,l}+σ ^2-1/N(1-δ _{k,l}). The E_N^{}(z;σ ) are polynomials in z^2, explicitly computable for arbitrary N, yet a list of the first three E_N^{}(z;σ ) shows that the expressions become unwieldy already for moderate N—unless σ = 1, in which case E_N^{}(z;1) = (1+z^2)^N for all z\\in C and N\\in N. (Incidentally, commonly available computer algebra evaluates the integrals E_N^{}(z;σ ) only for N up to a dozen, due to memory constraints). Asymptotic evaluations are needed for the large- N regime. For general complex z these have traditionally been limited to analytic expansion techniques; several rigorous results are proved for complex z near 0. Yet if z\\in R one can also compute this "infinite-degree" limit with the help of the familiar relative entropy principle for probability measures; a rigorous proof of this fact is supplied. Computer algebra-generated evidence is presented in support of a conjecture that a generalization of the relative entropy principle to signed or complex measures governs the N→ ∞ asymptotics of the regime iz\\in R. Potential generalizations, in particular to point vortex ensembles and the prescribed Gauss curvature problem, and to random matrix ensembles, are emphasized.

  8. FTR83, a Member of the Large Fish-Specific finTRIM Family, Triggers IFN Pathway and Counters Viral Infection

    Directory of Open Access Journals (Sweden)

    Christelle Langevin

    2017-05-01

    Full Text Available Tripartite motif (TRIM proteins are involved in various cellular functions and constitute key factors of the antiviral innate immune response. TRIM proteins can bind viral particles directly, sending them to degradation by the proteasome, or ubiquitinate signaling molecules leading to upregulation of innate immunity. TRIM proteins are present in across metazoans but are particularly numerous in vertebrates where genes comprising a B30.2 domain have been often duplicated. In fish, a TRIM subset named finTRIM is highly diversified, with large gene numbers and clear signatures of positive selection in the B30.2 domain suggesting they may be involved in antiviral mechanisms. finTRIM provides a beautiful model to investigate the primordial implication of B30.2 TRIM subsets in the arsenal of vertebrate antiviral defenses. We show here that ftr83, a zebrafish fintrim gene mainly expressed in the gills, skin and pharynx, encodes a protein affording a potent antiviral activity. In vitro, overexpression of FTR83, but not of its close relative FTR82, induced IFN and IFN-stimulated gene expression and afforded protection against different enveloped and non-enveloped RNA viruses. The kinetics of IFN induction paralleled the development of the antiviral activity, which was abolished by a dominant negative IRF3 mutant. In the context of a viral infection, FTR83 potentiated the IFN response. Expression of chimeric proteins in which the B30.2 domain of FTR83 and the non-protective FTR82 had been exchanged, showed that IFN upregulation and antiviral activity requires both the Ring/BBox/Coiled coil domain (supporting E3 ubiquitin ligase and the B30.2 domain of FTR83. Finally, loss of function experiments in zebrafish embryos confirms that ftr83 mediates antiviral activity in vivo. Our results show that a member of the largest TRIM subset observed in fish upregulates type I IFN response and afford protection against viral infections, supporting that TRIMs are key

  9. Depression among family caregivers of community-dwelling older people who used services under the Long Term Care Insurance program: a large-scale population-based study in Japan.

    Science.gov (United States)

    Arai, Yumiko; Kumamoto, Keigo; Mizuno, Yoko; Washio, Masakazu

    2014-01-01

    To identify predictors for depression among family caregivers of community-dwelling older people under the Long Term Care Insurance (LTCI) program in Japan through a large-scale population-based survey. All 5938 older people with disabilities, using domiciliary services under the LTCI in the city of Toyama, and their family caregivers participated in this study. Caregiver depression was defined as scores of ≥16 on the Center for Epidemiological Studies Depression Scale (CES-D). Other caregiver measures included age, sex, hours spent caregiving, relationship to the care recipient, income adequacy, living arrangement, self-rated health, and work status. Care recipient measures included age, sex, level of functional disability, and severity of dementia. The data from 4128 pairs of the care recipients and their family caregivers were eligible for further analyses. A multiple logistic regression analysis was used to examine the predictors associated with being at risk of clinical depression (CES-D of ≥16). Overall, 34.2% of caregivers scored ≥16 on the CES-D. The independent predictors for depression by logistic regression analysis were six caregiver characteristics (female, income inadequacy, longer hours spent caregiving, worse subjective health, and co-residence with the care recipient) and one care-recipient characteristic (moderate dementia). This is one of the first population-based examinations of caregivers of older people who are enrolled in a national service system that provides affordable access to services. The results highlighted the importance of monitoring caregivers who manifest the identified predictors to attenuate caregiver depression at the population level under the LTCI.

  10. Evaluation of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy.

    Science.gov (United States)

    Stabej, Polona; Leegwater, Peter A; Stokhof, Arnold A; Domanjko-Petric, Aleksandra; van Oost, Bernard A

    2005-03-01

    To evaluate the role of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy (DCM). 6 dogs with DCM, including 2 Doberman Pinschers, 2 Newfoundlands, and 2 Great Danes. All dogs had clinical signs of congestive heart failure, and a diagnosis of DCM was made on the basis of echocardiographic findings. Blood samples were collected from each dog, and genomic DNA was isolated by a salt extraction method. Specific oligonucleotides were designed to amplify the promoter, exon 1, the 5'-part of exon 2 including the complete coding region, and part of intron 1 of the canine phospholamban gene via polymerase chain reaction procedures. These regions were screened for mutations in DNA obtained from the 6 dogs with DCM. No mutations were identified in the promoter, 5' untranslated region, part of intron 1, part of the 3' untranslated region, and the complete coding region of the phospholamban gene in dogs with DCM. Results indicate that mutations in the phospholamban gene are not a frequent cause of DCM in Doberman Pinschers, Newfoundlands, and Great Danes.

  11. A qualitative study of factors influencing different generations of Newfoundland and Saskatchewan trained physicians to leave a work location.

    Science.gov (United States)

    Mathews, Maria; Seguin, Maureen; Chowdhury, Nurun; Card, Robert T

    2012-07-25

    Some studies have suggested that young physicians may have different expectations and practice behaviours than their older generational counterparts, including their reasons for wanting to remain or leave a community. This study examined the factors associated with a physician's decision to leave a work location. We compared different generations of physicians to assess whether these factors have changed over generations. We conducted semi-structured, qualitative interviews with 48 physicians who graduated from two Canadian medical schools. We asked each physician about the number and nature of work location changes and the factors related to their decisions to leave each location. Interview transcripts and notes were analysed using a thematic analysis approach. Dissatisfaction with the working environment was the most frequently cited reason for leaving a location for physicians of all generations. Elements which contributed to the quality of the work environment included the collaborative nature of the practice, the relationship with administrators, and access to resources and personnel. For younger physicians, the work environment had to meet their personal expectations for work-life balance. While remuneration level was given by some physicians as the key reason for leaving a location, for others it was the "last straw" if the work environment was poor. A small number of older generation physicians moved in response to political events and/or policies We documented generational differences in physicians' reasons for choosing a work location. We found that a poor work environment was universally the most important reason why a physician chose to leave a location. A few physicians who were unsatisfied with their work location identified level of remuneration as an additional reason for leaving. Some older generation physicians cited political climate as a reason for leaving a work location. While economic factors have largely been the focus of recruitment and

  12. MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland.

    Directory of Open Access Journals (Sweden)

    Amit A Negandhi

    Full Text Available In this study, 27 genetic polymorphisms that were previously reported to be associated with clinical outcomes in colorectal cancer patients were investigated in relation to overall survival (OS and disease free survival (DFS in colorectal cancer patients from Newfoundland.The discovery and validation cohorts comprised of 532 and 252 patients, respectively. Genotypes of 27 polymorphisms were first obtained in the discovery cohort and survival analyses were performed assuming the co-dominant genetic model. Polymorphisms associated with disease outcomes in the discovery cohort were then investigated in the validation cohort.When adjusted for sex, age, tumor stage and microsatellite instability (MSI status, four polymorphisms were independent predictors of OS in the discovery cohort MTHFR Glu429Ala (HR: 1.72, 95%CI: 1.04-2.84, p = 0.036, ERCC5 His46His (HR: 1.78, 95%CI: 1.15-2.76, p = 0.01, SERPINE1 -675indelG (HR: 0.52, 95%CI: 0.32-0.84, p = 0.008, and the homozygous deletion of GSTM1 gene (HR: 1.4, 95%CI: 1.03-1.92, p = 0.033. In the validation cohort, the MTHFR Glu429Ala polymorphism was associated with shorter OS (HR: 1.71, 95%CI: 1.18-2.49, p = 0.005, although with a different genotype than the discovery cohort (CC genotype in the discovery cohort and AC genotype in the validation cohort. When stratified based on treatment with 5-Fluorouracil (5-FU-based regimens, this polymorphism was associated with reduced OS only in patients not treated with 5-FU. In the DFS analysis, when adjusted for other variables, the TT genotype of the ERCC5 His46His polymorphism was associated with shorter DFS in both cohorts (discovery cohort: HR: 1.54, 95%CI: 1.04-2.29, p = 0.032 and replication cohort: HR: 1.81, 95%CI: 1.11-2.94, p = 0.018.In this study, associations of the MTHFR Glu429Ala polymorphism with OS and the ERCC5 His46His polymorphism with DFS were identified in two colorectal cancer patient cohorts. Our results also suggest

  13. Association between perceptions of public drinking water quality and actual drinking water quality: A community-based exploratory study in Newfoundland (Canada).

    Science.gov (United States)

    Ochoo, Benjamin; Valcour, James; Sarkar, Atanu

    2017-11-01

    Studying public perception on drinking water quality is crucial for managing of water resources, generation of water quality standards, and surveillance of the drinking-water quality. However, in policy discourse, the reliability of public perception concerning drinking water quality and associated health risks is questionable. Does the public perception of water quality equate with the actual water quality? We investigated public perceptions of water quality and the perceived health risks and associated with the actual quality of public water supplies in the same communities. The study was conducted in 45 communities of Newfoundland (Canada) in 2012. First, a telephone survey of 100 households was conducted to examine public perceptions of drinking water quality of their respective public sources. Then we extracted public water quality reports of the same communities (1988-2011) from the provincial government's water resources portal. These reports contained the analysis of 2091 water samples, including levels of Disinfection By-Products (DBPs), nutrients, metals, ions and physical parameters. The reports showed that colour, manganese, total dissolved solids, iron, turbidity, and DBPs were the major detected parameters in the public water. However, the majority of the respondents (>56%) were either completely satisfied or very satisfied with the quality of drinking water. Older, higher educated and high-income group respondents were more satisfied with water quality than the younger, less educated and low-income group respondents. The study showed that there was no association with public satisfaction level and actual water quality of the respective communities. Even, in the communities, supplied by the same water system, the respondents had differences in opinion. Despite the effort by the provincial government to make the water-test results available on its website for years, the study showed existing disconnectedness between public perception of drinking water

  14. Family Meals

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Family Meals KidsHealth / For Parents / Family Meals What's in ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  15. Family Arguments

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  16. Family History

    Science.gov (United States)

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  17. Family Issues

    Science.gov (United States)

    ... Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much ...

  18. Family Disruptions

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Disruptions Page Content Article Body No matter how ...

  19. A qualitative study of factors influencing different generations of Newfoundland and Saskatchewan trained physicians to leave a work location

    Directory of Open Access Journals (Sweden)

    Mathews Maria

    2012-07-01

    location. While economic factors have largely been the focus of recruitment and retention initiatives, our findings highlight the importance of the work environment and organizational culture on the retention of physicians of all generations.

  20. Large bowel resection

    Science.gov (United States)

    ... blockage in the intestine due to scar tissue Colon cancer Diverticular disease (disease of the large bowel) Other reasons for bowel resection are: Familial polyposis (polyps are growths on the lining of the colon or rectum) Injuries that damage the large bowel ...

  1. Peat development in Newfoundland: an historic overview. [Canada - Newfoundland

    Energy Technology Data Exchange (ETDEWEB)

    Rayment, A.F. (Newfoundland and Labrador Peat Association, St. John' s, NF (Canada))

    1994-02-01

    The aboriginal people and early white settlers doubtless had many uses for peat, although we have few specifics. A concerted effort was made in the 1930s to drain and develop certain peat bogs for growing forages, but interest in the agricultural use of peat waned during World War II and did not return until after Confederation in 1949. The Royal Commission Report on Agriculture (1956) recommended investigation of the feasibility of peat moss for agricultural purposes. From this point, research was conducted chiefly by the federal Experimental Farm near St. John's and by the provincial government, with some input from Memorial University. All peat moss developments must be preceded by drainage, which in turn should be preceded by a contour and depth survey. Mechanical aspects for drainage have evolved considerably. About 1,300 acres were drained by the Cuthbertson plow up to 1960 and another 2500 acres drained by the Healy ditcher between then and 1967; no subsequent reports have been obtained. Research has been conducted into fertilizer requirements for forages. Experiments on the grazing of sheep and/or cattle were also conducted and some problems were encountered, particularly with the grazing of sheep. Also studied was the potential of peat moss production for poultry litter, and the use of peat, kelp and fish offal to produce a high value compost. 28 refs.

  2. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  3. Who counts as family? Family typologies, family support, and family undermining among young adult gay and bisexual men.

    Science.gov (United States)

    Soler, Jorge H; Caldwell, Cleopatra H; Córdova, David; Harper, Gary; Bauermeister, José A

    2018-06-01

    Gay and bisexual men may form chosen families in addition to or in place of families of origin. However, the characteristics of these diverse families remain largely unexamined in the quantitative literature. The purpose of this study was to develop a family typology based on responses from a racially and ethnically diverse sample of young adult gay and bisexual men (YGBM) recruited from the Detroit Metropolitan Area (N=350; 18-29 years old). To explore the role of family, we then examined family social support and social undermining in relation to YGBM psychological distress within different family types. A series of multivariate regressions were used to examine associations between family social support and social undermining with depression and anxiety outcomes. The majority (88%) of YGBM included family of origin in their definitions of family and 63% indicated having chosen families. Associations between family social processes and psychological outcomes varied by type of family, suggesting that family composition shapes how perceptions of support and undermining relate to experiencing symptoms of depression and anxiety. Chosen families play a prominent role in the lives of YGBM and should not be overlooked in family research. Findings also highlight the importance of examining co-occurring family social support and social stress processes to further address psychological distress symptoms among YGBM.

  4. Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

    Directory of Open Access Journals (Sweden)

    Julnar Usta

    Full Text Available Genotype phenotype correlations in Wilson disease (WD are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state. We investigated 76 members of a single large Lebanese family. Their genotypes were determined, and clinical assessments were carried out for affected subjects. We also performed a literature search retrieving the phenotypes of patients carrying the same mutations of our patients in the homozygous or compound heterozygous state. There were 7 consanguineous marriages in this family and the prevalence of WD was 8.9% and of carriers of ATP7B mutation 44.7%. WD was confirmed in 9 out of 76 subjects. All 9 had the c.2299insC mutation, 5 homozygous and 4-compound heterozygous with p. Ala1003Thr. Six of our patients had hepatic, 2 had neurologic and 1 had asymptomatic phenotype. Based on our data and a literature review, clear phenotypes were reported for 38 patients worldwide carrying the c.2299insC mutation. About 53% of those have hepatic and 29% have neurologic phenotype. Furthermore, there were 10 compound heterozygous patients carrying the p. Ala1003Thr mutation. Among those, 80% having c.2299insC as the second mutation had hepatic phenotype, and all others had neurologic phenotype. We hereby report an association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype.

  5. Family Violence and Family Physicians

    Science.gov (United States)

    Herbert, Carol P.

    1991-01-01

    The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

  6. Promoter Engineering Reveals the Importance of Heptameric Direct Repeats for DNA Binding by Streptomyces Antibiotic Regulatory Protein-Large ATP-Binding Regulator of the LuxR Family (SARP-LAL) Regulators in Streptomyces natalensis.

    Science.gov (United States)

    Barreales, Eva G; Vicente, Cláudia M; de Pedro, Antonio; Santos-Aberturas, Javier; Aparicio, Jesús F

    2018-05-15

    The biosynthesis of small-size polyene macrolides is ultimately controlled by a couple of transcriptional regulators that act in a hierarchical way. A Streptomyces antibiotic regulatory protein-large ATP-binding regulator of the LuxR family (SARP-LAL) regulator binds the promoter of a PAS-LuxR regulator-encoding gene and activates its transcription, and in turn, the gene product of the latter activates transcription from various promoters of the polyene gene cluster directly. The primary operator of PimR, the archetype of SARP-LAL regulators, contains three heptameric direct repeats separated by four-nucleotide spacers, but the regulator can also bind a secondary operator with only two direct repeats separated by a 3-nucleotide spacer, both located in the promoter region of its unique target gene, pimM A similar arrangement of operators has been identified for PimR counterparts encoded by gene clusters for different antifungal secondary metabolites, including not only polyene macrolides but peptidyl nucleosides, phoslactomycins, or cycloheximide. Here, we used promoter engineering and quantitative transcriptional analyses to determine the contributions of the different heptameric repeats to transcriptional activation and final polyene production. Optimized promoters have thus been developed. Deletion studies and electrophoretic mobility assays were used for the definition of DNA-binding boxes formed by 22-nucleotide sequences comprising two conserved heptameric direct repeats separated by four-nucleotide less conserved spacers. The cooperative binding of PimR SARP appears to be the mechanism involved in the binding of regulator monomers to operators, and at least two protein monomers are required for efficient binding. IMPORTANCE Here, we have shown that a modulation of the production of the antifungal pimaricin in Streptomyces natalensis can be accomplished via promoter engineering of the PAS-LuxR transcriptional activator pimM The expression of this gene is

  7. Magnetic anomalies across the transitional crust of the passive conjugate margins of the North Atlantic: Iberian Abyssal Plain/Northern Newfoundland Basin

    Science.gov (United States)

    Srivastava, S.; Sibuet, J.; Manatschal, G.

    2005-12-01

    and not by oceanic crust formed by seafloor spreading. Ages of mantle exhumation at ODP Sites 1067, 1068 and 1070 are similar to ages determined as if the crust was emplaced by seafloor spreading. We have demonstrated that sources of these magnetic anomalies are not located 6-8 km below the basement as previously suggested but lie within the upper crust, as for conventional seafloor spreading magnetic anomalies. From paleomagnetic measurements performed on serpentinized peridotites from three ODP sites in IAP and proxies in the Alps, we suggest that the crystallization of magnetite grains during the primary mantle serpentinization are related to mantle exhumation processes along downward concave faults, resulting in highly magnetized serpentinized rocks giving rise to magnetic anomalies similar to 'seafloor spreading' anomalies, but with different amplitudes. Finally, we suggest a mechanism of emplacement of the transitional crust for the conjugate IAP/Northern Newfoundland Basin margins similar to the mode of emplacement of amagmatic segments observed at slow or ultraslow seafloor spreading ridges. One of the consequences of this work is that magnetic data might give useful time constraints on the emplacement of transitional crust across non-volcanic passive margins but not information concerning its nature.

  8. 新移民子女國小國語文學習成就大型評量調查研究 Large-Scale Survey of the Elementary School Mandarin Achievements of Children From New-Immigrant Families

    Directory of Open Access Journals (Sweden)

    謝佩蓉 Pei-Jung Hsieh

    2015-12-01

    control groups; 7,835 and 9,772 fourth- and sixth-graders took the Mandarin test, respectively. Data were collected through Mandarin achievement tests and questionnaires. After the tests, samples were weighted to accurately represent the population, and the Jackknife method was used to estimate standard error when comparing Mandarin learning performance among the new-immigrant family and nonimmigrant family children. The confidence intervals for learning performance were calculated to determine whether differences in learning performance among the groups were significant. The results showed that both the fourth- and sixth-grade new-immigrant family children had significantly lower Mandarin and math scores than the nonimmigrant family children did. Significant differences with large effect sizes existed between the fourth-grade Mandarin scores for both groups compared to scores from China, Hong Kong, Macau, and Southeast Asia. Significant differences also existed for both sixth-grade groups, but the effect size was smaller. Score level was not significantly correlated with school environment but was partially correlated with class adjustment and peer relationships. Furthermore, students with mothers whose parenting style was “slightly authoritarian,” “moderately permissive,” or “highly authoritative” tended to have superior learning performance. Personal factors, particularly self-concept and expectation of success, had a strong effect on learning performance. However, interest value in the subject was not correlated with Mandarin performance for the fourth- or sixth-grade students. Three implications were derived according to the quantitative results.

  9. Familial gigantism

    NARCIS (Netherlands)

    W.W. de Herder (Wouter)

    2012-01-01

    textabstractFamilial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  10. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  11. Family Issues

    Science.gov (United States)

    ... es Autismo? Family Issues Home / Living with Autism / Family Issues Stress Siblings A child’s autism diagnosis affects every member of the family in different ways. Parents/caregivers must now place their ... may put stress on their marriage, other children, work, finances, and ...

  12. Small family, smart family? : family size and the IQ scores of young men

    OpenAIRE

    Black, Sandra E.; Devereux, Paul J.; Salvanes, Kjell Gunnar

    2007-01-01

    How do families influence the ability of children? Cognitive skills have been shown to be a strong predictor of educational attainment and future labor market success; as a result, understanding the determinants of cognitive skills can lead to a better understanding of children's long run outcomes. This paper uses a large dataset on the male population of Norway and focuses on one family characteristic: the effect of family size on IQ. Because of the endogeneity of family size, we instrument ...

  13. Jamaican families.

    Science.gov (United States)

    Miner, Dianne Cooney

    2003-01-01

    The study of the family in the Caribbean originated with European scholars who assumed the universality of the patriarchal nuclear family and the primacy of this structure to the healthy functioning of society. Matrifocal Caribbean families thus were seen as chaotic and disorganized and inadequate to perform the essential tasks of the social system. This article provides a more current discussion of the Jamaican family. It argues that its structure is the result of the agency and adaptation of its members and not the root cause of the increasing marginalization of peoples in the developing world. The article focuses on families living in poverty and how the family structure supports essential family functions, adaptations, and survival.

  14. Family interactions in adoptive compared to nonadoptive families.

    Science.gov (United States)

    Rueter, Martha A; Keyes, Margaret A; Iacono, William G; McGue, Matt

    2009-02-01

    Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents' increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. Copyright 2009 APA, all rights reserved.

  15. Unusual evolutionary conservation and further species-specific adaptations of a large family of nonclassical MHC class Ib genes across different degrees of genome ploidy in the amphibian subfamily Xenopodinae.

    Science.gov (United States)

    Edholm, Eva-Stina; Goyos, Ana; Taran, Joseph; De Jesús Andino, Francisco; Ohta, Yuko; Robert, Jacques

    2014-06-01

    Nonclassical MHC class Ib (class Ib) genes are a family of highly diverse and rapidly evolving genes wherein gene numbers, organization, and expression markedly differ even among closely related species rendering class Ib phylogeny difficult to establish. Whereas among mammals there are few unambiguous class Ib gene orthologs, different amphibian species belonging to the anuran subfamily Xenopodinae exhibit an unusually high degree of conservation among multiple class Ib gene lineages. Comparative genomic analysis of class Ib gene loci of two divergent (~65 million years) Xenopodinae subfamily members Xenopus laevis (allotetraploid) and Xenopus tropicalis (diploid) shows that both species possess a large cluster of class Ib genes denoted as Xenopus/Silurana nonclassical (XNC/SNC). Our study reveals two distinct phylogenetic patterns among these genes: some gene lineages display a high degree of flexibility, as demonstrated by species-specific expansion and contractions, whereas other class Ib gene lineages have been maintained as monogenic subfamilies with very few changes in their nucleotide sequence across divergent species. In this second category, we further investigated the XNC/SNC10 gene lineage that in X. laevis is required for the development of a distinct semi-invariant T cell population. We report compelling evidence of the remarkable high degree of conservation of this gene lineage that is present in all 12 species of the Xenopodinae examined, including species with different degrees of ploidy ranging from 2, 4, 8 to 12 N. This suggests that the critical role of XNC10 during early T cell development is conserved in amphibians.

  16. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  17. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikk...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

  18. Community families

    DEFF Research Database (Denmark)

    Jensen, Lotte Groth; Lou, Stina; Aagaard, Jørgen

    2017-01-01

    : Qualitative interviews with members of volunteer families. Discussion: The families were motivated by helping a vulnerable person and to engaging in a rewarding relationship. However, the families often doubted their personal judgment and relied on mental health workers to act as safety net. Conclusion......Background: Social interventions targeted at people with severe mental illness (SMI) often include volunteers. Volunteers' perspectives are important for these interventions to work. The present paper investigates the experiences of volunteer families who befriend a person with SMI. Material...

  19. This is My Family

    OpenAIRE

    Yeğen, Hale Nur; Çetin, Merve

    2017-01-01

    Me and my family, Families poem, Mother-Father, Brother-Sister, Grandparents, Uncle-Aunt, Cousin, Family, Family handgame, My family tree, Activities (Three In a Family), Digital Games, A family poem, Quiz

  20. Family problems

    International Nuclear Information System (INIS)

    Goldman, T.

    1984-01-01

    Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these ''families'' is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question

  1. Family problems

    International Nuclear Information System (INIS)

    Goldman, T.

    1984-01-01

    Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these families is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question

  2. Familial hypercholesterolemia

    Science.gov (United States)

    ... and Tests A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus). The health care provider will ask questions about your personal and family medical history. There may be: A strong family history of ...

  3. FAMILY PYRGOTIDAE.

    Science.gov (United States)

    Mello, Ramon Luciano; Lamas, Carlos José Einicker

    2016-06-14

    Pyrgotidae is a family of endoparasitics flies of beetles with worldwide distribution. The Neotropical fauna is composed by 59 valid species names disposed in 13 genera. The occurrence of Pyrgota longipes Hendel is the first record of the family in Colombia.

  4. Familial polycystic ovarian disease.

    Science.gov (United States)

    Givens, J R

    1988-12-01

    Emphasis is placed on the heterogeneity of the phenotypic presentation of PCOD. It is the common expression of an unknown number of disorders and thus is a sign and not a specific diagnosis. Two essential features are arrested follicular maturation and atresia of follicles. Normal folliculogenesis is described, emphasizing that a large number of areas could be subject to derangement causing PCOD. Any interference of the finely balanced sequence of events can lead to PCOD. The genetic defect causing familial PCOD is unknown and the initiating event remains undefined. Three families are described that illustrate four features of familial PCOD. A number of associated disorders such as diabetes, hyperinsulinemia, obesity, and hypertension are described. The potential importance of agents that modulate the LH and FSH activity that may cause PCOD is emphasized. The theoretic means by which similar male and female gonadal abnormalities may be coupled in families through growth factors EGF and alpha TGF are presented.

  5. The Family Startup Program

    DEFF Research Database (Denmark)

    Trillingsgaard, Tea; Maimburg, Rikke Damkjær; Simonsen, Marianne

    2015-01-01

    Background: Inadequate parenting is an important public health problem with possible severe and long-term consequences related to child development. We have solid theoretical and political arguments in favor of efforts enhancing the quality of the early family environment in the population at large....../design: Participants will be approximately 2500 pregnant women and partners. Inclusion criteria are parental age above 18 and the mother expecting first child. Families are recruited when attending routine pregnancy scans provided as a part of the publicly available prenatal care program at Aarhus University Hospital...... and community resources. The program consists of twelve group sessions, with nine families in each group, continuing from pregnancy until the child is 15 months old. TAU is the publicly available pre- and postnatal care available to families in both conditions. Analyses will employ survey data, administrative...

  6. 5. Natural Family Planning

    African Journals Online (AJOL)

    Sitwala

    Medical Journal of Zambia, Vol. 37, No. 4 (2010) ... Methods: A cross sectional study was done in five health posts of ... Data was collected using a structured interview schedule ... This means they did not know what impact large families will ...

  7. Assessing the role of large hydro in Canada's electricity future

    International Nuclear Information System (INIS)

    Lee Pochih

    1992-01-01

    Electric power in Canada was first generated by steam in the 1880s. The use of hydroelectricity spread rapidly due to abundant water resources and the nationalization of power companies by the provinces; by 1920, 97% of Canadian electricity production came from hydroelectric plants. Thermal generation became competitive by the 1960s, when most of the best hydro sites had been developed, and nuclear generation also started gaining a share of the market. By 1991, hydroelectricity's share of Canadian power production had declined to around 60%. Hydroelectric power has long been used as an instrument of Canadian industrial policy. Given the amount and importance of utility capital expenditures, it was recognized that hydropower development could serve such policy objectives as job creation, industrial development, and macroeconomic stabilization. Creation of provincially owned utilities led to construction of large hydroelectric projects, notably in Quebec, British Columbia, Manitoba, and Newfoundland. The 20 largest hydroelectric power plants in Canada have a total installed capacity of 35,704 MW, representing ca 59% of Canada's total 1991 hydro capacity. The construction of such large projects is not expected to proceed as quickly as in the past because of environmental concerns. However, a number of factors favor continuation of development of hydro resources: a remaining potential estimated at ca 44,000 MW; simplification of electricity export regulations; more stringent air pollution standards that favor non-polluting energy sources; and a moratorium on nuclear power plants in Ontario. 4 tabs

  8. Women behind the Scenes in Family Businesses

    OpenAIRE

    Cappuyns, Kristin

    2007-01-01

    The success of family businesses is largely due to a circular relationship in which three intangible factors enhance each other: love for the family business, trust among different business factors, and freedom of behaviour for family members (Gallo et al., 2001). These values are the cornerstone on which family members base their commitment to the business. But how can family members of advanced generations, especially those who are not active in the business, become more comm...

  9. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...... by the parents using the Achenbach’s Child Behaviour Checklist (CBCL). RESULTS: The family stress variables relating to the healthy spouse in all six comparisons were significant (p... scores for the children. For the adjusted associations, we again found the family stress variables in the healthy spouse to be related to the risk of emotional and behavioral problems in the children. CONCLUSIONS: The present results suggest that in ABI families, the children’s emotional functioning...

  10. Small Families

    Science.gov (United States)

    ... children of larger families. The financial costs of maintaining a household are lower. It is easier for ... separated from you, hindering the development of new relationships with peers. In fact, you may have that ...

  11. Familial hypercholesterolaemia

    African Journals Online (AJOL)

    Familial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised .... Figure 2: Cumulative prevalence of physical signs in adult FH patients at the. GSH Lipid .... microvascular trauma.

  12. Family Life

    Science.gov (United States)

    ... family members to do your laundry, walk the dog, or update others on your progress. You may ... parenting while living with cancer . The importance of communication As demonstrated above, good communication is important in ...

  13. Familial dysautonomia

    Science.gov (United States)

    ... condition. FD occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused ... also be used for prenatal diagnosis. People of Eastern European Jewish background and families with a history ...

  14. Patterns of MHC-DRB1 polymorphism in a post-glacial island canid, the Newfoundland red fox (Vulpes vulpes deletrix), suggest balancing selection at species and population timescales.

    Science.gov (United States)

    Marshall, H Dawn; Langille, Barbara L; Hann, Crystal A; Whitney, Hugh G

    2016-05-01

    As the only native insular Newfoundland canid between the extinction of the wolf in the 1930s and the recent arrival of coyotes, the red fox (Vulpes vulpes deletrix Bangs 1898) poses interesting questions about genetic distinctiveness and the post-glacial colonization history of the island's depauperate mammalian fauna. Here, we characterized genetic variability at the major histocompatibility complex (MHC) class II DR β1 domain (DRB1) locus in 28 red foxes from six sampling localities island-wide and compared it with mitochondrial control region (CR) diversity and DRB1 diversity in other canids. Our goals were to describe novel DRB1 alleles in a new canid population and to make inferences about the role of selection in maintaining their diversity. As in numerous studies of vertebrates, we found an order-of-magnitude higher nucleotide diversity at the DRB1 locus compared with the CR and significantly positive nonsynonymous-to-synonymous substitution ratios, indicative of selection in the distant past. Although the evidence is weaker, the Ewens-Watterson test of neutrality and the geographical distribution of variation compared with the CR suggest a role for selection over the evolutionary timescale of populations. We report the first genetic data from the DRB1 locus in the red fox and establish baseline information regarding immunogenetic variation in this island canid population which should inform continued investigations of population demography, adaptive genetic diversity, and wildlife disease in red foxes and related species.

  15. The Caenorhabditis chemoreceptor gene families

    Directory of Open Access Journals (Sweden)

    Robertson Hugh M

    2008-10-01

    Full Text Available Abstract Background Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Results Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Conclusion Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

  16. The Caenorhabditis chemoreceptor gene families.

    Science.gov (United States)

    Thomas, James H; Robertson, Hugh M

    2008-10-06

    Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

  17. Veritas Asteroid Family Still Holds Secrets?

    Science.gov (United States)

    Novakovic, B.

    2012-12-01

    Veritas asteroid family has been studied for about two decades. These studies have revealed many secrets, and a respectable knowledge about this family had been collected. Here I will present many of these results and review the current knowledge about the family. However, despite being extensively studied, Veritas family is still a mystery. This will be illustrated through the presentation of the most interesting open problems. Was there a secondary collision within this family? Does asteroid (490) Veritas belong to the family named after it? How large was the parent body of the family? Finally, some possible directions for future studies that aims to address these questions are discussed as well.

  18. Large deviations

    CERN Document Server

    Varadhan, S R S

    2016-01-01

    The theory of large deviations deals with rates at which probabilities of certain events decay as a natural parameter in the problem varies. This book, which is based on a graduate course on large deviations at the Courant Institute, focuses on three concrete sets of examples: (i) diffusions with small noise and the exit problem, (ii) large time behavior of Markov processes and their connection to the Feynman-Kac formula and the related large deviation behavior of the number of distinct sites visited by a random walk, and (iii) interacting particle systems, their scaling limits, and large deviations from their expected limits. For the most part the examples are worked out in detail, and in the process the subject of large deviations is developed. The book will give the reader a flavor of how large deviation theory can help in problems that are not posed directly in terms of large deviations. The reader is assumed to have some familiarity with probability, Markov processes, and interacting particle systems.

  19. Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family

    DEFF Research Database (Denmark)

    Kanters, Jørgen K.; Skibsbye, Lasse; Hedley, Paula L.

    2015-01-01

    Background: Congenital long QT syndrome (LQTS) is a hereditary cardiac channelopathy characterized by delayedventricular repolarization, syncope, torsades de pointes and sudden cardiac death. Thirty-three members of fi ve apparently‘ unrelated ’Danish families carry the KCNH2:c.87C A; p.F29L...

  20. The Canadian offshore: a still largely untapped potential

    International Nuclear Information System (INIS)

    Anon.

    1996-01-01

    Nova Scotia, on the Eastern coast of Canada, has revealed to be a promising region for hydrocarbons but still remains largely untapped. Its environment is similar to the North Sea and its situation close to the energy markets of Eastern Canada and North-Eastern USA represents a favourable advantage. Significant natural gas and condensates offshore reserves where discovered in the Venture structure such as the Cohasset and the Panuke natural gas fields with a good productivity and a low depth. Reserves with 7 to 40 billions of m 3 are located within a radius of 40 km around the Sable Island. According to a study ordered by the Nova-Scotia Department of Natural Resources, the exploitation of these gas fields should be carried out after the year 2000. Its socio-economical and environmental impacts on the George Bank fishing zone is also studied. The offshore petroleum and natural gas survey around Newfoundland led to the discovery of 15 fields such as the great Hibernia field. The paper describes also the contracts and means involved in the exploitation of the Hibernia, the Terra Nova, the Whiterose and the Hebron fields and the productions expected. (J.S.)

  1. Family Structure and Family Processes in Mexican American Families

    OpenAIRE

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2011-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct,...

  2. Super families

    International Nuclear Information System (INIS)

    Amato, N.; Maldonado, R.H.C.

    1989-01-01

    The study on phenomena in the super high energy region, Σ E j > 1000 TeV revealed events that present a big dark spot in central region with high concentration of energy and particles, called halo. Six super families with halo were analysed by Brazil-Japan Cooperation of Cosmic Rays. For each family the lateral distribution of energy density was constructed and R c Σ E (R c ) was estimated. For studying primary composition, the energy correlation with particles released separately in hadrons and gamma rays was analysed. (M.C.K.)

  3. Family Violence.

    Science.gov (United States)

    Emery, Robert E.

    1989-01-01

    Researchers and policymakers have begun to recognize the extent and severity of family violence, particularly its effects on children. But there is much disagreement about the definition of violence, its development, the consequences for victims, and the most effective avenues for intervention. Advances recommendations for further research.…

  4. Family arizing

    NARCIS (Netherlands)

    Croes, M.J.G.; Feijs, L.M.G.; Chen, L.; Djajadingrat, T.; Feijs, L.M.G.; Hu, J.; Kufin, S.H.M.; Rampino, L.; Rodriguez, E.; Steffen, D.

    2015-01-01

    In this demo we show the two main components of the Family Arizing system which allows parents to stay in contact with their child and, in cases of distress, provide the child with a remote comforting hug. The two components to be shown are the active necklace and the active snuggle.

  5. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  6. FAMILY ASILIDAE.

    Science.gov (United States)

    Wolff, Marta; Lamas, Carlos José Einicker

    2016-06-14

    Asilidae is one of the largest Diptera families with more than 7,000 recognized species worldwide. All their species are predators on arthropods, mainly insects. This catalogue presents 71 species distributed in 26 genera, ten tribes or generic groups and four subfamilies. For each species we present the available geographical information and relevant references.

  7. Family Hypnotherapy.

    Science.gov (United States)

    Araoz, Daniel L.; Negley-Parker, Esther

    1985-01-01

    A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

  8. Familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Versmissen, Jorie; Vongpromek, Ranitha; Yahya, Reyhana

    2016-01-01

    cholesterol efflux capacity between male familial hypercholesterolaemia (FH) patients with and without CHD relative to their non-FH brothers, and examined HDL constituents including sphingosine-1-phosphate (S1P) and its carrier apolipoprotein M (apoM). RESULTS: Seven FH patients were asymptomatic and six had...... in asymptomatic FH patients may play a role in their apparent protection from premature CHD....

  9. Family focused nursing education

    Directory of Open Access Journals (Sweden)

    R. A. E. Thompson

    1993-03-01

    Full Text Available At the present time the majority of nurse education programmes are firmly tied to the perspectives of curative medicine within hospitals - they are disease and hospital oriented. This model, which indicates a 'sickness’ concept of nursing is entirely inappropriate if contemporary and future health care needs are to be met. The shift in education should be towards a health, family and whole person centered approach. The family is the most fundamental and dynamic unit in society with a profound influence upon its members. Besides performing a variety of other functions, the family has a central role in promoting and maintaining the health of its members. Because the family unit is the microcosm of society and accurately reflects the needs of society at large it is appropriate that this should be a key area of experience. Family attachments during training provide opportunities for close and committed contact with people in their everyday world and for learning what is really important to them.

  10. Family Size, Interaction, Affect and Stress

    Science.gov (United States)

    Nye, F. Ivan; And Others

    1970-01-01

    Synthesizes previous research on relationship of family size to attitudes. Reduces findings to four propositions and submits these propositions to additional tests utilizing secondary data from two large surveys. Substantively, families of three or four children rank lower in all of the analyses than do families with one or two children. Presented…

  11. Filling the Glass: Gender Perspectives on Families

    Science.gov (United States)

    Ferree, Myra Marx

    2010-01-01

    The challenge feminist scholarship posed to family studies has been largely met through the incorporation of research on gender dynamics within families and intersectional differences among them. Despite growing attention to gender as performance and power in more diverse families, the more difficult work of understanding the dynamics of change…

  12. Large deviations

    CERN Document Server

    Deuschel, Jean-Dominique; Deuschel, Jean-Dominique

    2001-01-01

    This is the second printing of the book first published in 1988. The first four chapters of the volume are based on lectures given by Stroock at MIT in 1987. They form an introduction to the basic ideas of the theory of large deviations and make a suitable package on which to base a semester-length course for advanced graduate students with a strong background in analysis and some probability theory. A large selection of exercises presents important material and many applications. The last two chapters present various non-uniform results (Chapter 5) and outline the analytic approach that allow

  13. [Family violence].

    Science.gov (United States)

    Manoudi, F; Chagh, R; Es-soussi, M; Asri, F; Tazi, I

    2013-09-01

    Family violence is a serious public health problem, the scale of which is seriously increasing in Morocco. Although it has existed for a long time, we ignore the real characteristics of this plague in our country; our work consisted in an epidemiological approach of family violence in Marrakech during 2006. After elaborating a questionnaire, which allows the study of the demographic and social profile of the families, the study of violence exercised in the family and the evaluation of the depression in the women, we led an inquiry amongst 265 women. Analysis of the results obtained has allowed us to underline the following characteristics: 16.6% of the women in our sample had been physically beaten; the young age is a risk factor; the age range most affected by violence is in women between the ages of 30 and 40 and which represent 39% of the battered women; domestic violence touches all the social, economic and cultural classes: in our study, 63% of the women having undergone violence were housewives, 25% were managers and 3% senior executives; family problems were the most important cause of violence in our study, representing 32.32%. Requests for money was the cause in 11.3% of the cases, and imposed sexual relations were found in 6.8% of the cases; alcoholism is an aggravating factor of family violence; 27.3% of the spouses who assaulted their wives were drunk; 52% of the assaulted women were victims of violence in childhood and 36% had been witness to their father's violence; in 63.6% of the cases of violence, the children were witnesses, and in 25% of the cases the children were victims of violence at the same time as their mothers; 50% of the women victims of violence did not react, while 38.6% left home, and 9.1 filed for divorce. Thirty-two percent of the assaulted woman had been traumatised by the aggression; the association of depression and violence was very high, 343% of the battered women in our study suffered from severe depression. This work

  14. Family unification in five and six dimensions

    International Nuclear Information System (INIS)

    Babu, K.S.; Barr, S.M.; Kyae, Bumseok

    2002-01-01

    In family unification models, all three families of quarks and leptons are grouped together into an irreducible representation of a simple gauge group, thus unifying the standard model gauge symmetries and a gauged family symmetry. Large orthogonal groups, and the exceptional groups E 7 and E 8 , have been much studied for family unification. The main theoretical difficulty of family unification is the existence of mirror families at the weak scale. It is shown here that family unification without mirror families can be realized in simple five-dimensional and six-dimensional orbifold models similar to those recently proposed for SU(5) and SO(10) grand unification. It is noted that a family unification group that survived to near the weak scale and whose coupling extrapolated to high scales unified with those of the standard model would be evidence, accessible in principle at low energy, of the existence of small (Planckian or GUT-scale) extra dimensions

  15. Family roles as family functioning regulators

    OpenAIRE

    STEPANYAN ARMINE

    2015-01-01

    The author examines the problems of formation and functioning of family roles. Having social roots, family roles appear on individual level by performing the social function of the formation of family as a social institute.

  16. Family transitions and juvenile delinquency.

    Science.gov (United States)

    Schroeder, Ryan D; Osgood, Aurea K; Oghia, Michael J

    2010-01-01

    There is a large body of research that shows children from non-intact homes show higher rates of juvenile delinquency than children from intact homes, partially due to weaker parental control and supervision in non-intact homes. What has not been adequately addressed in the research is the influence of changes in family structure among individual adolescents over time on delinquent offending. Using the first and third waves of the National Youth Study, we assess the effect of family structure changes on changes in delinquent offending between waves through the intermediate process of changes in family time and parental attachment. Although prior research has documented adolescents in broken homes are more delinquent than youth in intact homes, the process of family dissolution is not associated with concurrent increases in offending. In contrast, family formation through marriage or cohabitation is associated with simultaneous increases in offending. Changes in family time and parental attachment account for a portion of the family formation effect on delinquency, and prior parental attachment and juvenile offending significantly condition the effect of family formation on offending.

  17. Roles within the Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

  18. India's misconceived family plan.

    Science.gov (United States)

    Jacobson, J L

    1991-01-01

    India's goal of reducing the national birth rate by 50% by the year 2000 is destined to failure in the absence of attention to poverty, social inequality, and women's subordination--the factors that serve to perpetuate high fertility. There is a need to shift the emphasis of the population control effort from the obligation of individual women to curtail childbearing to the provision of the resources required for poor women to meet their basic needs. Female children are less likely to be educated or taken for medical care than their male counterparts and receive a lower proportion of the family's food supply. This discrimination stems, in large part, from parents' view that daughters will not be able to remunerate their families in later life for such investments. The myth of female nonproductivity that leads to the biased allocation of family resources overlooks the contribution of adult women's unpaid domestic labor and household production. Although government statistics state that women comprise 46% of India's agricultural labor force (and up to 90% of rural women participate in this sector on some basis), women have been excluded systematically from agricultural development schemes such as irrigation projects, credit, and mechanization. In the field of family planning, the Government's virtually exclusive focus on sterilization has excluded younger women who are not ready to terminate childbearing but would like methods such as condoms, diaphragms, IUDs, and oral contraceptives to space births. More general maternal-child health services are out of reach of the majority of poor rural women due to long distances that must be travelled to clinics India's birth rate could be reduced by 25% by 2000 just by filling the demand for quality voluntary family planning services. Without a sustained political commitment to improve the status of women in India, however, such gains will not be sustainable.

  19. Asteroid families from cratering: Detection and models

    Science.gov (United States)

    Milani, A.; Cellino, A.; Knežević, Z.; Novaković, B.; Spoto, F.; Paolicchi, P.

    2014-07-01

    A new asteroid families classification, more efficient in the inclusion of smaller family members, shows how relevant the cratering impacts are on large asteroids. These do not disrupt the target, but just form families with the ejecta from large craters. Of the 12 largest asteroids, 8 have cratering families: number (2), (4), (5), (10), (87), (15), (3), and (31). At least another 7 cratering families can be identified. Of the cratering families identified so far, 7 have >1000 members. This imposes a remarkable change from the focus on fragmentation families of previous classifications. Such a large dataset of asteroids believed to be crater ejecta opens a new challenge: to model the crater and family forming event(s) generating them. The first problem is to identify which cratering families, found by the similarity of proper elements, can be formed at once, with a single collision. We have identified as a likely outcome of multiple collisions the families of (4), (10), (15), and (20). Of the ejecta generated by cratering, only a fraction reaches the escape velocity from the surviving parent body. The distribution of velocities at infinity, giving to the resulting family an initial position and shape in the proper elements space, is highly asymmetric with respect to the parent body. This shape is deformed by the Yarkovsky effect and by the interaction with resonances. All the largest asteroids have been subjected to large cratering events, thus the lack of a family needs to be interpreted. The most interesting case is (1) Ceres, which is not the parent body of the nearby family of (93). Two possible interpretations of the low family forming efficiency are based on either the composition of Ceres with a significant fraction of ice, protected by a thin crust, or with the larger escape velocity of ~500 m/s.

  20. Large ethics.

    Science.gov (United States)

    Chambers, David W

    2008-01-01

    This essay presents an alternative to the traditional view that ethics means judging individual behavior against standards of right and wrong. Instead, ethics is understood as creating ethical communities through the promises we make to each other. The "aim" of ethics is to demonstrate in our own behavior a credible willingness to work to create a mutually better world. The "game" of ethics then becomes searching for strategies that overlap with others' strategies so that we are all better for intending to act on a basis of reciprocal trust. This is a difficult process because we have partial, simultaneous, shifting, and inconsistent views of the world. But despite the reality that we each "frame" ethics in personal terms, it is still possible to create sufficient common understanding to prosper together. Large ethics does not make it a prerequisite for moral behavior that everyone adheres to a universally agreed set of ethical principles; all that is necessary is sufficient overlap in commitment to searching for better alternatives.

  1. Family Psychology and Family Therapy in Japan.

    Science.gov (United States)

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

    Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

  2. Family Policy: The Conservative Challenge and the Progressive Response.

    Science.gov (United States)

    Cherlin, Andrew

    1983-01-01

    Examines the question of how family professionals should respond to the conservative pro-family movement. Argues that the response of liberal family professionals to date--consisting largely of a defense of pluralism--has been inadequate and should concentrate on the most important issues facing families currently. (JAC)

  3. Strengthening Family Practices for Latino Families.

    Science.gov (United States)

    Chartier, Karen G; Negroni, Lirio K; Hesselbrock, Michie N

    2010-01-01

    The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

  4. Non-dietary risk factors for gastric dilatation-volvulus in large and giant breed dogs.

    Science.gov (United States)

    Glickman, L T; Glickman, N W; Schellenberg, D B; Raghavan, M; Lee, T

    2000-11-15

    To identify non-dietary risk factors for gastric dilatation-volvulus (GDV) in large breed and giant breed dogs. Prospective cohort study. 1,637 dogs > or = 6 months old of the following breeds: Akita, Bloodhound, Collie, Great Dane, Irish Setter, Irish Wolfhound, Newfoundland, Rottweiler, Saint Bernard, Standard Poodle, and Weimaraner. Owners of dogs that did not have a history of GDV were recruited at dog shows, and the dog's length and height and the depth and width of its thorax and abdomen were measured. Information concerning the dog's medical history, genetic background, personality, and diet was obtained from the owners, and owners were contacted by mail and telephone at approximately 1-year intervals to determine whether dogs had developed GDV or died. Incidence of GDV, calculated on the basis of dog-years at risk for dogs that were or were not exposed to potential risk factors, was used to calculate the relative risk of GDV. Cumulative incidence of GDV during the study was 6% for large breed and giant breed dogs. Factors significantly associated with an increased risk of GDV were increasing age, having a first-degree relative with a history of GDV, having a faster speed of eating, and having a raised feeding bowl. Approximately 20 and 52% of cases of GDV among the large breed and giant breed dogs, respectively, were attributed to having a raised feed bowl.

  5. Geology and lithogeochemistry of hydrothermal mudstones from the upper block near the Duck Pond volcanogenic massive sulfide (VMS) deposit, Newfoundland, Canada: evidence for low-temperature venting into oxygenated mid-Cambrian seawater

    Science.gov (United States)

    Piercey, Stephen J.; Squires, Gerry; Brace, Terry

    2018-02-01

    Pyrite- and pyrrhotite-rich mudstones are spatially associated with Cambrian ( 512-509 Ma) volcanogenic massive sulfide (VMS) deposits throughout the Tally Pond group, central Newfoundland, Canada. At the Duck Pond mine, sulfide-rich mudstones are hosted within a weakly mineralized upper block that structurally overlies the deposit but is older ( 513 versus 509 Ma). The mudstones are laminated, 10-30-cm thick, and pyrite- and pyrrhotite-rich and occur along pillow lava selvages, or in between pillow lavas, rhyolite flows, and volcaniclastic rocks. The mudstones are laterally extensive and proximal to the mudstone host rocks are hydrothermally altered to epidote-quartz-chlorite (basalt host) and sericite-quartz (rhyolite host). Lithogeochemical data for the sulfide-rich mudstones reflect the varying contributions of elements from sedimentary detritus, hydrothermal discharge, and hydrogenous scavenging from middle Cambrian seawater. The mudstones have minor detrital element abundances and significant hydrothermal element enrichments (i.e., elevated Fe2O3, S, Pb, Zn, Cu, and Ba concentrations, high Fe/Al ratios). The hydrothermal mudstones are also enriched in oxyanions (i.e., P2O5, U, V, Cr, Ni, Co, and Hg), interpreted to have been enriched via oxidative scavenging from seawater by Fe-oxide/oxyhydroxide particles. The mudstones also have REE-Y signatures similar to modern oxygenated seawater with high Y/Ho and negative Ce anomalies (Ce/Ce* = 0.40-0.86; average = 0.58), which correlate with adsorbed oxyanion concentrations. The low Eu/Eu* (1.02-1.86; average = 1.22) in the mudstones suggest that they were deposited from low-temperature (residence time to scavenge oxyanions from seawater and inherit a middle Cambrian seawater signature. The predominant seawater REE-Y-oxyanion signature in the Duck Pond upper block sulfide-rich mudstones suggests that they are distal hydrothermal sedimentary rocks that could have formed up to 10 km from their original vent sources

  6. Examination of body burden and taint for Iceland scallop (Chlamys islandica) and American plaice (Hippoglossoides platessoides) near the Terra Nova offshore oil development over ten years of drilling on the Grand Banks of Newfoundland, Canada

    Science.gov (United States)

    DeBlois, Elisabeth M.; Kiceniuk, Joe W.; Paine, Michael D.; Kilgour, Bruce W.; Tracy, Ellen; Crowley, Roger D.; Williams, Urban P.; Gregory Janes, G.

    2014-12-01

    This paper presents results of analyses of body burdens of metals and hydrocarbons, and taste tests for taint, in Iceland scallop and American plaice performed as part of the Environmental Effects Monitoring (EEM) program for the Terra Nova offshore oil development (Grand Banks of Newfoundland, Canada). Scallop and plaice were collected in a Study Area located within approximately 1 km of drill centres at Terra Nova and in a Reference Area located approximately 20 km from the development. Samples were collected in 1997 to establish a baseline, and from 2000 to 2010, during drilling periods. Scallop adductor muscle tissue was contaminated with >C10-C21 aliphatic hydrocarbons resembling the drilling fluid in the synthetic drilling mud (SBM) used at Terra Nova in 2000, 2002 and 2004, but contamination of adductor muscle was not noted in 2006, 2008 and 2010. The maximum concentration in muscle was 28 mg/kg wet weight, noted in 2002. Scallop viscera was contaminated with hydrocarbons resembling drilling fluid in SBMs near drill centres in all EEM years except 2010. Viscera contamination with >C10-C21 hydrocarbons gradually decreased from a maximum of 150 mg/kg in 2000, to a maximum of 27 mg/kg in 2008; all values were below the laboratory reporting detection limit of 15 mg/kg in 2010. Therefore, evidence from both muscle and viscera indicates a decrease in tissue hydrocarbon contamination in recent years. Barium, another major constituent in drilling muds, has not been noted in scallop adductor muscles at concentrations above the reporting detection limit, but barium was detected in viscera in baseline and EEM years. The maximum concentration of barium in viscera during baseline sampling was 8 mg/kg. The maximum concentration in EEM years (29 mg/kg) was noted in 2000. The maximum concentration in 2010 was 25 mg/kg. The concentration of metals other than barium in scallop tissues was similar between the Terra Nova Study Area and the Reference Area. Hydrocarbons

  7. Family Background and Entrepreneurship

    DEFF Research Database (Denmark)

    Lindquist, Matthew J.; Sol, Joeri; Van Praag, Mirjam

    Vast amounts of money are currently being spent on policies aimed at promoting entrepreneurship. The success of such policies, however, rests in part on the assumption that individuals are not ‘born entrepreneurs’. In this paper, we assess the importance of family background and neighborhood...... effects as determinants of entrepreneurship. We start by estimating sibling correlations in entrepreneurship. We find that between 20 and 50 percent of the variance in different entrepreneurial outcomes is explained by factors that siblings share. The average is 28 percent. Allowing for differential...... entrepreneurship does play a large role, as do shared genes....

  8. Familial adenomatous polyposis.

    OpenAIRE

    Burn, J; Chapman, P D; Eastham, E J

    1994-01-01

    Abstract Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rect...

  9. Working mothers: Family-work conflict, job performance and family/work variables

    OpenAIRE

    Cynthia J Patel; Vasanthee Govender; Zubeda Paruk; Sarojini Ramgoon

    2006-01-01

    The present study examined the relationship between family-work conflict, job performance and selected work and family characteristics in a sample of working mothers employed at a large retail organization. The hypothesis of a negative relationship between family-work conflict and job performance was rejected. Married women reported significantly higher family-work conflict than unmarried women, while women in the highest work category gained the highest job performance rating. More than half...

  10. Family Matters

    Directory of Open Access Journals (Sweden)

    Isabel de Riquer

    2011-04-01

    Full Text Available The scene is at the court of James I of Aragon in the mid-13th c., the place is the royal palace of Barcelona or any of the crown's other possessions, and the dramatis personae include the heir to the throne, prince Peire (future king Peire the Great, and the court's most famous troubadour, Cerverí de Girona (fl. 1259-85. Author of the largest corpus of any Occitan troubadour (114 poems, Cerverì distinguishes himself by the surprises and challenges he presents to his audience: an alba (the most openly erotic genre to the Virgin Mary, the Cobla in sis lengatges (Cobla in Six Languages, the apparently nonsensical Vers estrayn. Cerverì borrows equally from the folk-inspired Galician-Portuguese poetry and from the French tradition, including the chanson de malmariée, where a young woman bemoans being sold off by her family to an old man (gilos, "Jealous" and separated from her youthful doulz amis, some even praying for the death of their husband. Both within that tradition and among Cerverì's three chansons de malmariée, the Gelosesca stands out as "especially determined" to lose her husband, using every "solution" (prayer, black magic, potion or experimenta.

  11. Factors influencing utilization of Natural Family Planning among ...

    African Journals Online (AJOL)

    -10 children. This means they did not know what impact large families will have on the poverty stricken households. There is some ignorance about NFP methods. They are more used to artificial harmful methods of Family Planning. Therefore ...

  12. Bounding CKM mixing with a fourth family

    International Nuclear Information System (INIS)

    Chanowitz, Michael S.

    2009-01-01

    CKM mixing between third-family quarks and a possible fourth family is constrained by global fits to the precision electroweak data. The dominant constraint is from nondecoupling oblique corrections rather than the vertex correction to Z→bb used in previous analyses. The possibility of large mixing suggested by some recent analyses of flavor-changing neutral-current processes is excluded, but 3-4 mixing of the same order as the Cabbibo mixing of the first two families is allowed.

  13. Bequeathing Family Continuity.

    Science.gov (United States)

    Spanier, Graham B.

    1989-01-01

    Notes that many children who experience abuse, family disruption, or poverty reach adulthood with a strong commitment to family life. Questions whether changes in American families are indicators of pathology, deterioration, and instability; and asks how dysfunctional families transmit commitment to the concept of family to succeeding generations.…

  14. The Reconstituted Family

    OpenAIRE

    Talbot, Yves

    1981-01-01

    The reconstituted or step-family is becoming more prevalent. The physician who cares for families should be acquainted with the different aspects of such family structure and family functioning. This will enable professionals to better understand and assist their patients, by anticipating the different stresses related to the new family formation, and supporting their adaptation.

  15. The Endurance of Family Businesses. A Global Overview

    OpenAIRE

    P., Fernandez Perez; Colli, Andrea

    2013-01-01

    The Endurance of Family Businesses is a collection of essays offering an overview of the importance and resilience of family-controlled large businesses. Much of economic and business history research neglects family businesses, considering them an inefficient form of business organisation. These essays discuss the strengths of family businesses: the ways family firms have managed, financed and governed their corporations, as well as the way in which they structure their relationship with the...

  16. Fourth Lepton Family is Natural in Technicolor

    DEFF Research Database (Denmark)

    T. Frandsen, Mads; Masina, Isabella; Sannino, Francesco

    2010-01-01

    Imagine to discover a new fourth family of leptons at the Large Hadron Collider (LHC) but no signs of an associated fourth family of quarks. What would that imply? An intriguing possibility is that the new fermions needed to compensate for the new leptons gauge anomalies simultaneously address...

  17. Family Child Care Licensing Study, 1997.

    Science.gov (United States)

    Children's Foundation, Washington, DC.

    This report details the findings of an annual survey of state child care regulatory agencies. The survey gathered data on both small family child care homes and group or large family child care homes in each of the 50 states, the District of Columbia, Puerto Rico and the Virgin Islands. The report's introduction lists the survey categories and…

  18. Family Capital: Implications for Interventions with Families

    Science.gov (United States)

    Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

    2011-01-01

    Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

  19. Family boundary characteristics, work-family conflict and life satisfaction: A moderated mediation model.

    Science.gov (United States)

    Qiu, Lin; Fan, Jinyan

    2015-10-01

    Although work-family border and boundary theory suggest individuals' boundary characteristics influence their work-family relationship, it is largely unknown how boundary flexibility and permeability mutually influence work-family conflict and subsequent employee outcomes. Moreover, the existing work-family conflict research has been mainly conducted in the United States and other Western countries. To address these gaps in the work-family literature, the present study examines a moderated mediation model regarding how family boundary characteristics may influence individuals' work-family conflict and life satisfaction with a sample of 278 Chinese full-time employees. Results showed that employees' family flexibility negatively related to their perceived work interference with family (WIF) and family interference with work (FIW), and both these two relationships were augmented by individuals' family permeability. In addition, WIF mediated the relationship between family flexibility and life satisfaction; the indirect effect of family flexibility on life satisfaction via WIF was stronger for individuals with higher family permeability. The theoretical and managerial implications of these findings are discussed. © 2014 International Union of Psychological Science.

  20. Familial Pulmonary Fibrosis

    Science.gov (United States)

    ... Education & Training Home Conditions Familial Pulmonary Fibrosis Familial Pulmonary Fibrosis Make an Appointment Find a Doctor Ask a ... more members within the same family have Idiopathic Pulmonary Fibrosis (IPF) or any other form of Idiopathic Interstitial ...

  1. Family Activities for Fitness

    Science.gov (United States)

    Grosse, Susan J.

    2009-01-01

    This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.

  2. Normal Functioning Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Español Text Size Email Print Share Normal Functioning Family Page Content Article Body Is there any way ...

  3. Improving Family Communications

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Listen Español Text Size Email Print Share Improving Family Communications Page Content Article Body How can I ...

  4. Hegemony in the Roma family.

    Science.gov (United States)

    Mrhálek, Tomáš; Lidová, Lenka; Kajanová, Alena

    2015-01-01

    This article is intended to describe the current hegemonic masculinity within the Roma family structure in the Czech Republic, with regard to changes related to developments in the majority society and the current socioeconomic situation of the Roma. The theoretical context of this article is based on the paradigm of masculine hegemony as it exists and has existed in the Roma families. Data for the study came from semi-structured interviews with 30 Roma females and 30 Roma males living as couples, in three Czech cities. The main finding reveals a dichotomy between the traditional roles of Roma women, i.e. care for the family and the household, and the present functions, i.e. contributing to the family income through social benefits. We observed a decline in the traditional role of Roma men, who were often unemployed. We related the change in the roles of men to the "non-functionality of the men", contributing to the emerging potential for emancipation of Roma women. However, the traditional patriarchal Roma family is structured such that men are given the main decision making powers, which has slowed changes in marginalized Roma families. Additionally, social pressures against women as well as socially conditioned pressures that act to preserve hegemonic masculinity, have largely prevented the realization of the potential for emancipation of Roma women, or if a woman tries to leave her non-functioning husband.

  5. Families and family therapy in Hong Kong.

    Science.gov (United States)

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

  6. O Programa de saúde da família e a reestruturação da atenção básica à saúde nos grandes centros urbanos: velhos problemas, novos desafios The Family Health Program and restructuring of basic health care in large Brazilian cities: old problems, new chanenges

    Directory of Open Access Journals (Sweden)

    Rosângela Caetano

    2002-06-01

    Full Text Available Este artigo apresenta alguns Tesultados da pesquisa sobre a perspectiva de implantação do Programa de Saúde da Família em grandes cidades. Discute algumas das dificuldades específicas para a reestruturação do modelo assistencial dos grandes centros, bem como os desafios a serem superados pela adoção do programa. Funciona, assim, como uma abertura da temática deste número de Physis, detalhada nos demais artigos. O Ministério da Saúde elegeu o Programa de Saúde da Família como a estratégia de transformação dos modelos assistenciais vigentes. Quase dez anos após seu início, constata-se uma grande heterogeneidade na sua implantação no país, com uma cobertura mínima em municípios de grande porte, notadamente nas capitais brasileiras. A expansão para as grandes cidades é condição, tanto para elevações mais significativas de cobertura populacional atingida pelo programa, como para que o PSF possa realmente vir a ser um elemento central na transformação do modelo assistencial do país.This article presents research results on implementation of the Family Health Program (PSF in large cities of Brazi!. lt discusses some of the specific difficulties in restructuring the health care model in large cities and in the adoption of the Programo lt thus serves as an introduction to the theme of this edition of Physis, analyzed in detail in the subsequent articles. The Brazilian Ministry of Health chose the Family Health Program as its strategy for transforming prevailing health care models. Almost ten years after the Program was launched, there is a great heterogeneity in its implementation around the country, with minimum coverage in large municipalities, especiany in the State capitals. Expansion of the PSF to the large cities is a condition both for attaining higher population coverage and for the Program to actuany become a key element in transforming the country's health care model.

  7. Family doctors' involvement with families in Estonia

    Directory of Open Access Journals (Sweden)

    Lember Margus

    2004-10-01

    Full Text Available Abstract Background Family doctors should care for individuals in the context of their family. Family has a powerful influence on health and illness and family interventions have been shown to improve health outcomes for a variety of health problems. The aim of the study was to investigate the Estonian family doctors' (FD attitudes to the patients' family-related issues in their work: to explore the degree of FDs involvement in family matters, their preparedness for management of family-related issues and their self-assessment of the ability to manage different family-related problems. Methods A random sample (n = 236 of all FDs in Estonia was investigated using a postal questionnaire. Altogether 151 FDs responded to the questionnaire (response rate 64%, while five of them were excluded as they did not actually work as FDs. Results Of the respondents, 90% thought that in managing the health problems of patients FDs should communicate and cooperate with family members. Although most of the family doctors agreed that modifying of the health damaging risk factors (smoking, alcohol and drug abuse of their patients and families is their task, one third of them felt that dealing with these problems is ineffective, or perceived themselves as poorly prepared or having too little time for such activities. Of the respondents, 58% (n = 83 were of the opinion that they could modify also relationship problems. Conclusions Estonian family doctors are favourably disposed to involvement in family-related problems, however, they need some additional training, especially in the field of relationship management.

  8. Family medicine in Republic of Srpska

    Directory of Open Access Journals (Sweden)

    Račić Maja

    2015-01-01

    Full Text Available The Family Medicine Development Project in Republic of Srpska was an initiative funded by the Canadian International Development Agency (CIDA. The project introduced family medicine into undergraduate curricula, established three-years long program of residency in family medicine in 1999, created departments of family medicine in both medical schools, helped with the process of establishing a professional association of family physicians, worked with Ministries of health and social welfare to establish supportive policies for these activities, and regularly provided continuing medical education programs for family practitioners during the 13 years of the project. Today, three family medicine teaching centers exist in RS (Primary health care centers Banja Luka, Foča and Bijeljina where more than 600 physicians were educated either through residency or additional training program in family medicine. Almost 1000 primary care nurses completed additional training. Family medicine centered primary health care reform was a complex innovation, involving organizational, financial, clinical and relational changes. An important factor influencing the adoption of this complex innovation in RS was the perceived benefits of the innovation: benefits which accrue to the users, family physicians, nurses and policy makers. With political commitment, an enabling economic environment and equitable distribution of resources, comprehensive primary health has proved to be a better strategy in achieving the goal of health for all. However, although family medicine passed through long journey from imposition to partnership, there is still large place for the improvement.

  9. Attitude of the youth to the institute of family and family values

    Directory of Open Access Journals (Sweden)

    Artur A. Rean

    2016-03-01

    Full Text Available The paper draws attention to the large number of divorces in contemporary Russia. It is emphasized that much of them fall on the first years of marriage. However, most of the surveys conducted in recent years have shown that the family is one of the leading positions in the structure of adolescent value. On the basis of this juxtaposition, it is concluded that young people need to be specially trained for family life. Contemporary family and the school cannot cope with this task. We have carried out a large-scale empirical study in eight regions of different federal districts of Russia, the results of which are shown in the paper. Total sample amounted of more than 7,000 people. The sample included respondents from large and small cities in Russia, as well as from the villages of nuclear and one-parent families, families with 1-2 children and also large families. The research has shown that in the structure of life values the family still occupies the first position. It was also found that the vast majority of respondents emphasize the need to be specially trained for building a family. However, only one third of respondents believe that this can be done by conducting special courses on the family and family life in schools. For the majority of the respondents, their parent family is not a guide or a pattern. The greatest impact on the youth in the process of growing up is produced by mother. Fathers, occupying the second position, prove to be outsiders with a large gap. It was revealed that a generalized portrait of the mother and the father are completely positive, i.e. they do not contain any negative characteristics. The top ten most popular qualities to describe father and mother are the following: kind, reliable, caring, responsible, family-making, smart. Other qualities of the top ten highest priorities differ.

  10. Modelling the effects of penetrance and family size on rates of sporadic and familial disease.

    Science.gov (United States)

    Al-Chalabi, Ammar; Lewis, Cathryn M

    2011-01-01

    Many complex diseases show a diversity of inheritance patterns ranging from familial disease, manifesting with autosomal dominant inheritance, through to simplex families in which only one person is affected, manifesting as apparently sporadic disease. The role of ascertainment bias in generating apparent patterns of inheritance is often overlooked. We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality. We develop a mathematical model of familiality of disease, with parameters for penetrance, mutation frequency and family size, and test this in a complex disease: amyotrophic lateral sclerosis. Monogenic, high-penetrance variants can explain patterns of inheritance in complex diseases and account for a large proportion of those with no apparent family history. With current demographic trends, rates of familiality will drop further. For example, a variant with penetrance 0.5 will cause apparently sporadic disease in 12% of families of size 10, but 80% of families of size 1. A variant with penetrance 0.9 has only an 11% chance of appearing sporadic in families of a size similar to those of Ireland in the past, compared with 57% in one-child families like many in China. These findings have implications for genetic counselling, disease classification and the design of gene-hunting studies. The distinction between familial and apparently sporadic disease should be considered artificial. Copyright © 2011 S. Karger AG, Basel.

  11. Air family in Chacaltaya experiment

    International Nuclear Information System (INIS)

    Semba, Hiroshi

    1980-01-01

    A clean event with a large multiplicity was detected in the CH 19 film exposed at Chacaltaya. Two jets produced in the producer were seen in this event '19 - 191'. Thirteen hadron components were observed. The height at which the event was produced was estimated to be about 320 m. A similar event '17 - 112' with a large multiplicity has been reported as an event in the CH 17 film. An event '17 - I153' with a large multiplicity was also seen in a producer jet. These three events have the mutually similar properties. The half-angle of the angular distribution was as large as 50 to 100 GeV. The values of the transverse momentum were large. These properties show that at the time of interaction, a very heavy intermediate product called UH quantum is produced, and decays thermally. A new method of analysis of air family is proposed. (Kato, T.)

  12. Singing about family planning.

    Science.gov (United States)

    Emah, E

    1993-01-01

    The Nigerian Family Health services project teamed up with the Johns Hopkins University's Population Communication Services to produce songs called "Choices" and "Wait for Me." The songs, which were about sexual responsibility, were performed by popular music stars King Sunny Ade and Onyeka Onwenu and appeared under King Sonny Ade's long playing albums in 1989. Teaching sexual responsibility through song was suggested in focus group discussions. Findings indicated that young people were responsive to messages about sexual responsibility, postponing sex or saying "no," male sexual responsibility, and children by informed choice and not chance among married couples. An impact assessment of the songs was conducted in February, 1991. Survey findings revealed that 64% of urban and 22% of rural respondents recalled having heard the songs and seen the videos. 48% of urban youth discussed the songs with friends, and 27% discussed the songs with sexual partners. 90% of respondents reported agreement with the message that couples should have only the number of children that they can care for, and that couples should practice family planning. The target population that was affected most by the songs was aged less than 35 years. The strategy of using songs to teach youth responsible parenting appears to be a reliable strategy for mass education and mobilization. There is mass support from among members of the National Council for Women's Societies, the Planned Parenthood Federation of Nigeria, and Coca Cola Corporation, as well as the public at large.

  13. [Family medicine and functional somatic syndromes].

    Science.gov (United States)

    Nago, Naoki

    2009-09-01

    Between psychosomatic medicine and psychiatry, FSS (functional somatic syndromes) patients are often visiting a family doctor. For FSS, the role of family physicians is large, but the family physicians are not required for the role of diagnosis and treatment of FSS. Rather, appropriate referral to a specialist to exclude organic disease is important and a role as the coordinator is large to the patient to refuse a psychiatric consultation. To serve as a role for such coordination, a family physician has to response the patient's emotional side and focus on the construction of the doctor-patient relationship and response. I also think of structuralism medicine approach to describe disease from the meta-level as a new procedure to the patient. This approach consists of 4 components, 'entity', 'phenomenon', 'words', and 'I'. This may be a useful approach to family physicians who coordinate the overall for FSS patients' management.

  14. Competitiveness of Family Businesses

    NARCIS (Netherlands)

    M.A.A.M. Leenders (Mark); E. Waarts (Eric)

    2001-01-01

    textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3)

  15. Families in Transition .

    Science.gov (United States)

    Bundy, Michael L., Ed.; Gumaer, James, Ed.

    1984-01-01

    Focuses on disrupted families and the role of the school counselor in helping children adjust. Describes characteristics of healthy families, and discusses the transition to the blended family, effects of divorce groups on children's classroom behavior, counseling children in stepfamilies, single-parent families, and parenting strengths of single…

  16. Pure γ-families

    International Nuclear Information System (INIS)

    Dunaevskii, A.M.

    1977-01-01

    The subject of this work are pure gamma families consisting of the gamma quanta produced in the early stages of cosmic cascades. The criteria of selecting these families from the all measured families are presented. The characteristics of these families are given and some conclusions about the mechanism of the nuclear-electromagnetic cascades are extracted. (S.B.)

  17. Familial Colorectal Cancer: Understanding the Alphabet Soup.

    Science.gov (United States)

    Giglia, Matthew D; Chu, Daniel I

    2016-09-01

    While most colorectal cancers (CRCs) originate from nonhereditary spontaneous mutations, one-third of cases are familial or hereditary. Hereditary CRCs, which account for < 5% of all CRCs, have identifiable germline mutations and phenotypes, such as Lynch syndrome and familial adenomatous polyposis (FAP). Familial CRCs, which account for up to 30% of CRCs, have no identifiable germline mutation or specific pattern of inheritance, but higher-than-expected incidence within a family. Since the discovery that certain genotypes can lead to development of CRC, thousands of mutations have now been implicated in CRC. These new findings have enhanced our ability to identify at-risk patients, initiate better surveillance, and take preventative measures. Given the large number of genes now associated with hereditary and familial CRCs, clinicians should be familiar with the alphabet soup of genes to provide the highest quality of care for patients and families.

  18. Work-family harmony

    OpenAIRE

    Adhikari,Pralhad

    2018-01-01

    The phenomenon of positively thinking about work and organization during the family hours by a worker is called work-family harmony. On the fag opposite of work-family conflict is work-family harmony. The work extends/intrudes into the family life of the worker, but in a positive way. This kind of positive thinking about the organization helps person's subjective well-being grow and his mental health is also nourished.

  19. Family emotional expressiveness and family structure

    Directory of Open Access Journals (Sweden)

    Čotar-Konrad Sonja

    2016-01-01

    Full Text Available The present paper scrutinizes the relationship between family emotional expressiveness (i.e., the tendency to express dominant and/or submissive positive and negative emotions and components of family structure as proposed in Olson’s Circumplex model (i.e., cohesion and flexibility, family communication, and satisfaction in families with adolescents. The study was conducted on a sample of 514 Slovenian adolescents, who filled out two questionnaires: the Slovenian version of Family Emotional Expressiveness - FEQ and FACES IV. The results revealed that all four basic dimensions of family functioning were significantly associated with higher/more frequent expressions of positive submissive emotions, as well as with lower/less frequent expressions of negative dominant emotions. Moreover, expressions of negative submissive emotions explained a small, but significant amount of variance in three out of four family functioning variables (satisfaction, flexibility, and communication. The importance of particular aspects of emotional expressiveness for family cohesion, flexibility, communication, and satisfaction is discussed, and the relevance of present findings for family counselling is outlined.

  20. Familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Rozen Paul

    2009-10-01

    Full Text Available Abstract Familial adenomatous polyposis (FAP is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE, desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system. A less aggressive variant of FAP, attenuated FAP (AFAP, is characterized by fewer colorectal adenomatous polyps (usually 10 to 100, later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC gene. Most patients (~70% have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP, which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a

  1. Work-family conflict and retirement preferences.

    Science.gov (United States)

    Raymo, James M; Sweeney, Megan M

    2006-05-01

    This study investigates relationships between retirement preferences and perceived levels of work-family conflict. Using the large sample of 52-54-year-old respondents to the 1992 Wisconsin Longitudinal Study, we estimated multinomial logistic regression models of preferences for partial and full retirement within the next 10 years. We examined the association between retirement preferences and perceived work-family conflict, evaluated the extent to which work-family conflict was a mediating mechanism between stressful work and family circumstances and preferences to retire, and explored potential gender differences in the association between work-family conflict and preferring retirement. Work-family conflict was positively related to preferences for both full and partial retirement. Yet work-family conflict did not appear to mediate relationships between stressful work and family environments and retirement preferences, nor did significant gender differences emerge in this association. Our analyses provide the first direct evidence of the role played by work-family conflict in the early stages of the retirement process, although we were not able to identify the sources of conflict underlying this relationship. Identifying the sources of this conflict and the psychological mechanisms linking work-family conflict to retirement preferences is an important task for future researchers.

  2. "Liderazgo Familiar Intergeneracional": Intergenerational Family Leadership as a New Paradigm of Family Engagement

    Science.gov (United States)

    Montemayor, Aurelio M.; Chavkin, Nancy

    2016-01-01

    Title I schools that serve a large population of low-income students often view families through the lens of an outdated paradigm of family engagement in education, assuming parents are mostly uneducated, ill informed, and much in need of training and support to be good parents. "Comunitario" projects in the Rio Grande Valley of south…

  3. Nontraditional family romance.

    Science.gov (United States)

    Corbett, K

    2001-07-01

    Family stories lie at the heart of psychoanalytic developmental theory and psychoanalytic clinical technique, but whose family? Increasingly, lesbian and gay families, multiparent families, and single-parent families are relying on modern reproductive technologies to form families. The contemplation of these nontraditional families and the vicissitudes of contemporary reproduction lead to an unknowing of what families are, including the ways in which psychoanalysts configure the family within developmental theory. This article focuses on the stories that families tell in order to account for their formation--stories that include narratives about parental union, parental sexuality, and conception. The author addresses three constructs that inform family stories and that require rethinking in light of the category crises posed by and for the nontraditional family: (1) normative logic, (2) family reverie and the construction of a family romance, and (3) the primal scene. These constructs are examined in tandem with detailed clinical material taken from the psychotherapy of a seven-year-old boy and his two mothers.

  4. Strengthening Family Practices for Latino Families

    Science.gov (United States)

    Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

    2010-01-01

    This study examined the effectiveness of a culturally adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9- to 12-year-old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted…

  5. Intra-family messaging with family circles

    NARCIS (Netherlands)

    Schatorjé, R.J.W.; Markopoulos, P.; Neustaedter, C.; Harrison, S.; Sellen, A.

    2013-01-01

    This chapter makes the argument that intra-family communication is not an issue of connectivity anytime anywhere, but of providing communication media that are flexible and expressive allowing families to appropriate them and fit their own idiosyncratic ways of communicating with each other. We

  6. Family Therapy for the "Truncated" Nuclear Family.

    Science.gov (United States)

    Zuk, Gerald H.

    1980-01-01

    The truncated nuclear family consists of a two-generation group in which conflict has produced a polarization of values. The single-parent family is at special risk. Go-between process enables the therapist to depolarize sharply conflicted values and reduce pathogenic relating. (Author)

  7. Econometric Analysis Suggests Possible Crowding Out of Public Libraries by Book Superstores among Middle Income Families in the 1990s. A review of: Hemmeter, Jeffrey A. “Household Use of Public Libraries and Large Bookstores.” Library & Information Science Research 28.4 (Sept. 2006: 595–616.

    Directory of Open Access Journals (Sweden)

    Stephanie Hall

    2007-09-01

    ownership was also correlated with higher library use. Households with children were more than 20% more likely to use the library (610. Their use of the library for school‐related purposes, general borrowing, program activities, and so on was not affected by thepresence of book superstores. White families with children were somewhat less likely to use the library, while families with higherearning and education levels were more likely to use the library. Library use also increased with the number of children in thefamily. Shorter distances to the nearest branch and a higher proportion of AV materials were also predictive of higher library use. Educational level was another important factor, with those having less than high school completion being significantly less likely to use the library than those with higher levels of educational attainment. Conclusion – The notable decline in public library use among middle income households where more large bookstores are present is seen as an important threat to libraries, as it may result in a decline in general support and support for funding among an important voting block. More current data are needed in this area. Inaddition to the type of information examined in this study, the author recommends the inclusion of information on funding, support for library referenda, and library quality as they relate to the presence of large bookstores.

  8. Loosely coupled class families

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    are expressed using virtual classes seem to be very tightly coupled internally. While clients have achieved the freedom to dynamically use one or the other family, it seems that any given family contains a xed set of classes and we will need to create an entire family of its own just in order to replace one...... of the members with another class. This paper shows how to express class families in such a manner that the classes in these families can be used in many dierent combinations, still enabling family polymorphism and ensuring type safety....

  9. Understanding family dynasty: Nurturing the corporate identity across generations

    Directory of Open Access Journals (Sweden)

    Nemilentsev, M.

    2010-01-01

    Full Text Available This study aims to analyse the Ahlstrom annual reports. The content analysis contributes to family business corporate identity. According to the results family business corporate identity is based both on history and on the future. Human resource management, customer relationships, high quality, and also family ownership reflect corporate identity in large family corporations. Modern family business corporate identity is based on continuously developing the business concept and its core competency. Meeting the needs of customers and technical quality standards combined with upgrading and developing the business idea characterises family business corporate identity.

  10. Gambling related family coping and the impact of problem gambling on families in Hong Kong

    Directory of Open Access Journals (Sweden)

    Elda Mei Lo Chan

    2016-03-01

    Full Text Available Abstract Despite substantial evidence that problem gambling is associated with a wide range of family difficulties, limited effort has been devoted to studying the negative impacts on family members as a result of problem gambling and how they cope and function under the impacts of problem gambling in Chinese communities. Among the very few Chinese-specific gambling-related family impact studies, none have examined how gambling-related family coping responses are related to gambling-related family impacts. Based on a sample of treatment-seeking Chinese family members of problem gamblers, this study aimed to explore: (1 the demographic characteristics and health and psychological well-being of the family members; (2 the gambling-related family member impacts (active disturbance, worrying behavior; (3 the family coping strategies (engaged, tolerant-inactive and withdrawal coping; (4 the relationship between gambling-related family member impacts, psychological distress and family coping strategies. It was hypothesized that positive significant relationships would be found between family member impacts, psychological distress and family coping strategies. From March 2011 to February 2012, a total of 103 family members of problem gamblers who sought help from Tung Wah Group of Hospitals Even Centre in Hong Kong were interviewed. Results showed that a majority of family members were partners or ex-partners of the gambler with low or no income. A large proportion of participants reported moderate to high psychological distress (72.6 %, poor to fair general health (60.2 %, and poor to neither good nor bad quality of life (61.1 %. Family member impacts were positively significantly correlated to all family coping strategies and psychological distress. Tolerant-inactive coping had the strongest relationships with family member impacts and psychological distress. Strong relationships between family member impacts and psychological distress were also

  11. MSUD Family Support Group

    Science.gov (United States)

    ... The Treatment Of MSUD The MSUD Family Support Group has provided funds to Buck Institute for its ... of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was ...

  12. National Military Family Association

    Science.gov (United States)

    ... MilitaryFamily.org © 2017 - National Military Family Association Twitter Facebook Pinterest Instagram Charity Navigator Four Star Charity GuideStar Exchange Better Business Bureau Charity Watch Independent Charity of America nonprofit ...

  13. IGSF9 Family Proteins

    DEFF Research Database (Denmark)

    Hansen, Maria; Walmod, Peter Schledermann

    2013-01-01

    The Drosophila protein Turtle and the vertebrate proteins immunoglobulin superfamily (IgSF), member 9 (IGSF9/Dasm1) and IGSF9B are members of an evolutionarily ancient protein family. A bioinformatics analysis of the protein family revealed that invertebrates contain only a single IGSF9 family gene......, the longest isoforms of the proteins have the same general organization as the neural cell adhesion molecule family of cell adhesion molecule proteins, and like this family of proteins, IGSF9 family members are expressed in the nervous system. A review of the literature revealed that Drosophila Turtle...... facilitates homophilic cell adhesion. Moreover, IGSF9 family proteins have been implicated in the outgrowth and branching of neurites, axon guidance, synapse maturation, self-avoidance, and tiling. However, despite the few published studies on IGSF9 family proteins, reports on the functions of both Turtle...

  14. Family Caregiver Alliance

    Science.gov (United States)

    ... on your schedule. Look for our launch soon! FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... AiA18 Smart Patients Caregivers Community In partnership with Family Caregiver Alliance Learn more Caregiver Research Studies show ...

  15. Resilience of refugee families

    Directory of Open Access Journals (Sweden)

    Batić Dragana

    2012-01-01

    Full Text Available This study attempted to find a correlation between the trauma of family members of war and exile, and the characteristics of family functioning and lasted from 1992-1995. The term “family resilience” refers to the processes of adaptation and coping in the family as a functional unit. This paper presents a study of refugee families from Bosnia, who lived in refugee camps in Macedonia during the war of 1992- 1995. Data were obtained by interviews, observations, and a number of psychological instruments especially for children and parents, which measured the effects of psychological stress and family relationships. Based on the results obtained by quantitative and qualitative analysis, and application of theoretical models of systemic theory and family therapy, existence for four types of refugee families has been found and described, depending on the structure and the level of functionality.

  16. Unique Family Living Situations

    Science.gov (United States)

    ... Yet, what if the family home changes for reasons of divorce, death, or economics? Factors, such as shifting between ... for a child of any age. If the reason is due to divorce, work together as a family (both parents and ...

  17. Xeroderma Pigmentosum - A Family

    Directory of Open Access Journals (Sweden)

    Garg Anush

    2000-01-01

    Full Text Available A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  18. On the feasibility of using satellite gravity observations for detecting large-scale solid mass transfer events

    Science.gov (United States)

    Peidou, Athina C.; Fotopoulos, Georgia; Pagiatakis, Spiros

    2017-10-01

    The main focus of this paper is to assess the feasibility of utilizing dedicated satellite gravity missions in order to detect large-scale solid mass transfer events (e.g. landslides). Specifically, a sensitivity analysis of Gravity Recovery and Climate Experiment (GRACE) gravity field solutions in conjunction with simulated case studies is employed to predict gravity changes due to past subaerial and submarine mass transfer events, namely the Agulhas slump in southeastern Africa and the Heart Mountain Landslide in northwestern Wyoming. The detectability of these events is evaluated by taking into account the expected noise level in the GRACE gravity field solutions and simulating their impact on the gravity field through forward modelling of the mass transfer. The spectral content of the estimated gravity changes induced by a simulated large-scale landslide event is estimated for the known spatial resolution of the GRACE observations using wavelet multiresolution analysis. The results indicate that both the Agulhas slump and the Heart Mountain Landslide could have been detected by GRACE, resulting in {\\vert }0.4{\\vert } and {\\vert }0.18{\\vert } mGal change on GRACE solutions, respectively. The suggested methodology is further extended to the case studies of the submarine landslide in Tohoku, Japan, and the Grand Banks landslide in Newfoundland, Canada. The detectability of these events using GRACE solutions is assessed through their impact on the gravity field.

  19. Family Spirituality and Family Health Among Korean-American Elderly Couples.

    Science.gov (United States)

    Kim, Suk-Sun; Kim-Godwin, Yeoun Soo; Koenig, Harold G

    2016-04-01

    Spirituality has been regarded as an individual and private matter; consequently, research on spirituality as a family phenomenon has been largely neglected. In addition, most published research has been focused on Western cultures. The purpose of this study was to explore the experience of family spirituality and how it influences health among Korean-American elderly couples who are the first generation to reside in the Southeastern USA. A thematic and interpretive data analysis method was used. Thirteen elderly couples (N = 26) participated in in-depth individual interviews in Korean with the primary author. Interviews were audio-taped, transcribed, and then translated by two bilingual researchers with a background in Korean and American culture. Three main themes of family spirituality were identified: (1) family togetherness, (2) family interdependence, and (3) family coping. Also, participants reported that family spirituality strengthened family health by fostering family commitment, improving emotional well-being, developing new healthy behaviors, and providing healing experiences. This finding implies that healthcare providers need to assess family spiritual issues of elderly couples to maximize their strengths for coping with health problems. As our society becomes more culturally diverse, healthcare providers should seek to understand family spirituality from different cultural perspectives to develop a more holistic approach to care.

  20. Essays on Family Firms

    OpenAIRE

    Zhou, Haoyong

    2012-01-01

    The dissertation examines corporate performance and capital structure of family firms, contributing to the limited empirical research on family firms. Family firms are prevalent in national economies all over the world. It is the prevalence that makes family firms receive increasing attentions from academia. The dissertation consists of an introduction and three chapters. Each chapter is an independent paper. The first chapter is a joint work with Professor Morten Bennedsen and...

  1. Family Obligations in Denmark

    DEFF Research Database (Denmark)

    Koch-Nielsen, Inger

    How is the balance in obligations between the Family and the Danish Welfare State? Can we observe a trend to shift the responsibility back to the family? This booklet intends to sketch the legal framework around the division of responsibilities between the Family and the state and to analyse...... to what extent and where the unit of rights and obliagations is the individual and where it is the family or household....

  2. Economic development and family size.

    Science.gov (United States)

    Rios, R J

    1991-01-01

    The demographic transition in Latin America has resulted in increased family size rather than the Western European model of reduced family size. In 1905, both fertility and mortality were high in Latin America, but mortality declined more rapidly in Latin America than in Europe. In 1905, the crude birth rate for 15 selected countries averaged 44/1000 population. Western fertility at a comparable transition point was much lower at 30/1000. Between 1905 and 1960, fertility declines were evident in Uruguay, Argentina, Cuba, and Chile. Between 1960 and 1985, fertility declines appeared in Costa Rica, Panama, Brazil, and Colombia. Fertility declines were smaller in the other Latin American countries. Crude birth rates declined markedly by 1985 but may overestimate fertility decline, which is more accurately measured by standardized birth rates. Fertility decline was evident in Argentina, Chile, and Costa Rica for standardized birth rates, survivorship ratio, and births surviving past the age of 15 years. Theoretically, families are expected to reduce family size when survivorship is assured; when mortality is 25%, only four children need be planned instead of six when mortality is 50%. A result of falling mortality is a cheaper cost of producing children, which may stimulate parents to raise bigger families. Western fertility decline has been attributed to mortality decline, urbanization, increased female labor force participation, rising wages, and more efficient contraception. Comparable economic development in Latin America has not resulted in large enough changes to encourage family size limitation. A table of fertility and economic indicators for selected countries in Latin America and Europe reflects the inverse relationship between income growth, urban growth, and growth in female educational status and fertility. The regression equation explains 60% of the variation in fertility rates among Latin American countries. Explanatory power increases to 75% when female

  3. Rakhaine community embraces family planning.

    Science.gov (United States)

    Chowdhury, S M

    1994-01-01

    The Rakhaines are a small, tightly knit community of 15,000 people who occupy parts of the coastal and hilly districts of southern Bangladesh. It is a closed community with different ethnic origins and religion from other Bangladeshis. As such, they have been largely unreached by government health and family planning services. In response to the need to bring services to these people, contact was established between the Family Planning Association of Bangladesh (FPAB) and the Rakhaine in 1987 in the interest of improving family health and well-being among the Rakhaine people through the introduction of maternal and child health care and family planning. The Family Planning Services for the Rakhaine Community project of the FPAB began in Cox's Bazar and Harbang in late 1987, and spread gradually over the hilly terrain inhabited by the Rakhaine to now serve 2000 couples. Although family planning was the focal point, the project also incorporated schemes for income generation, maternal and child health care, and sanitation. At baseline, less than 25% of reproductive age couples were using contraception, but this proportion grew to 69% by 1993, higher than the national contraceptive prevalence rate of approximately 40%. Used by 41% of married women of reproductive age, the pill is the most preferred contraceptive method, followed by sterilization among 10% of women. The efforts of fieldworkers were crucial to program success. The author notes that current users have been using contraception on average for just over two years. Moreover, the level of tetanus toxoid immunization rose to 60% of pregnant women, while 75% of children are now immunized against major life-threatening diseases. Some costs are recovered, but not enough to finance the project.

  4. Horizontal versus familial transmission of Helicobacter pylori.

    Directory of Open Access Journals (Sweden)

    Sandra Schwarz

    2008-10-01

    Full Text Available Transmission of Helicobacter pylori is thought to occur mainly during childhood, and predominantly within families. However, due to the difficulty of obtaining H. pylori isolates from large population samples and to the extensive genetic diversity between isolates, the transmission and spread of H. pylori remain poorly understood. We studied the genetic relationships of H. pylori isolated from 52 individuals of two large families living in a rural community in South Africa and from 43 individuals of 11 families living in urban settings in the United Kingdom, the United States, Korea, and Colombia. A 3,406 bp multilocus sequence haplotype was determined for a total of 142 H. pylori isolates. Isolates were assigned to biogeographic populations, and recent transmission was measured as the occurrence of non-unique isolates, i.e., isolates whose sequences were identical to those of other isolates. Members of urban families were almost always infected with isolates from the biogeographic population that is common in their location. Non-unique isolates were frequent in urban families, consistent with familial transmission between parents and children or between siblings. In contrast, the diversity of H. pylori in the South African families was much more extensive, and four distinct biogeographic populations circulated in this area. Non-unique isolates were less frequent in South African families, and there was no significant correlation between kinship and similarity of H. pylori sequences. However, individuals who lived in the same household did have an increased probability of carrying the same non-unique isolates of H. pylori, independent of kinship. We conclude that patterns of spread of H. pylori under conditions of high prevalence, such as the rural South African families, differ from those in developed countries. Horizontal transmission occurs frequently between persons who do not belong to a core family, blurring the pattern of familial

  5. Genetics of familial melanoma

    DEFF Research Database (Denmark)

    Aoude, Lauren G; Wadt, Karin A W; Pritchard, Antonia L

    2015-01-01

    Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however...

  6. Family Counseling Psychology.

    Science.gov (United States)

    Levant, Ronald F., ed.

    1983-01-01

    Describes programs for family counseling which use psychological-educational and skills training methods to remediate individual and family problems or enhance family life. The six articles discuss client-centered skills training, behavioral approaches, cognitive behavioral marital therapy, Adlerian parent education, and couple communication. (JAC)

  7. Year of the Family.

    Science.gov (United States)

    California Agriculture, 1994

    1994-01-01

    This special issue focuses on problems and challenges confronting the California family and on research and extension efforts to provide at least partial answers. Research briefs by staff include "Challenges Confront the California Family" (state trends in poverty, divorce, single-parent families, child abuse, delinquency, teen births,…

  8. Rethinking Family Power.

    Science.gov (United States)

    Kranichfeld, Marion L.

    1987-01-01

    Men's power is emphasized in the family power literature on marital decision making. Little attention has been paid to women's power, accrued through their deeper embeddedness in intrafamilial roles. Micro-level analysis of family power demonstrates that women's positions in the family power structure rest not on the horizontal marital tie but…

  9. Fourth lepton family is natural in technicolor

    International Nuclear Information System (INIS)

    Frandsen, Mads T.; Masina, Isabella; Sannino, Francesco

    2010-01-01

    Imagine discovering a new fourth family of leptons at the Large Hadron Collider (LHC) but no signs of an associated fourth family of quarks. What would that imply? An intriguing possibility is that the new fermions needed to compensate for the new leptons gauge anomalies simultaneously address the big hierarchy problem of the standard model. A natural way to accomplish such a scenario is to have the Higgs itself be a composite of these new fermions. This is the setup we are going to investigate in this paper using as a template minimal walking technicolor. We analyze a general heavy neutrino mass structure with and without mixing with the standard model families. We also analyze the LHC potential to observe the fourth lepton family in tandem with the new composite Higgs dynamics. We finally introduce a model uniting the fourth lepton family and the technifermion sector at higher energies.

  10. Large deviations for noninteracting infinite-particle systems

    International Nuclear Information System (INIS)

    Donsker, M.D.; Varadhan, S.R.S.

    1987-01-01

    A large deviation property is established for noninteracting infinite particle systems. Previous large deviation results obtained by the authors involved a single I-function because the cases treated always involved a unique invariant measure for the process. In the context of this paper there is an infinite family of invariant measures and a corresponding infinite family of I-functions governing the large deviations

  11. Work-Family Conflict and Retirement Preferences

    OpenAIRE

    Raymo, James M.; Sweeney, Megan M

    2005-01-01

    Objectives: This study investigates relationships between perceived levels of work-family conflict and retirement preferences. Methods: Using the large sample of 52-54 year-old respondents to the 1992 Wisconsin Longitudinal Study, we estimate multinomial logistic regression models of preferences for partial and full retirement within the next ten years. We examine the association between preferences for retirement and perceived work-family conflict...

  12. Family planning and married fulfillment.

    Science.gov (United States)

    Burke, C

    1989-01-01

    Large numbers of children typified the Catholic family until the 60s when there was a general societal change towards smaller families. This change, which even affected Catholics, is thought to derive from 3 sources. The population explosion and its complimentary disadvantages, a change towards more egocentric values, and an increase in the importance of material values. The Western world is aging fast and fertility rates are falling to the point that an overall effect of population reduction is occurring. Children have become only an optional, instead of necessary as in previous generations, part of most couples' lifestyles in West. Careers, social status, gadgets, vacations, ease, and comfort are now commonly seen as more self- fulfilling than children. The Catholic church believes that the only reasons for family planning are natural methods used out of necessity. Vatican II clearly states that the purpose of marriage is the raising of children. It has become the opinion of many that marriage and children are only accidentally connected and that the 2 are not bound inseparably. It is the authors contention that this dualistic view of marriage and children is false. The author feels that through a marriage people can draw each other out of themselves and towards their children. Sacrificing oneself for one's children is the natural end to marriage. The author admits that family planning has been a great good to the world for the couples that need it to survive, but that couples that can have children should do so.

  13. Extending family nursing: concepts from positive psychology.

    Science.gov (United States)

    Skerrett, Karen

    2010-11-01

    This article identifies the burgeoning field of positive psychology as an important extension to the knowledge base of family nursing. Representing a new emphasis from the traditional social and human sciences, which have largely focused on problem- and deficit-based approaches, positive psychology focuses on optimal functioning and is an ideal complement to the strengths-based orientation of family nursing. Domains of positive psychology are presented and exemplars of supporting research offered. Finally, suggestions are given for ways to apply concepts from positive psychology to family nursing practice, research, and education.

  14. Disrupted Refugee Family Life

    DEFF Research Database (Denmark)

    Shapiro, Ditte Krogh

    2017-01-01

    Fleeing civil war involves managing life threatening events and multiple disruptions of everyday life. The theoretical potentials of analysing the recreation of everyday family life among Syrian refugees in Denmark is explored based on conceptualizations that emphasize the collective agency...... of family members in social historical contexts. Studying the multiple perspectives of family members shows how social support conceptualized as care practises is conflictual in the changing everyday family practices that are transformed by policy. The purpose of studying how families manage to flee civil...... war and struggle to recreate an everyday life in exile is to contribute with contextualization and expansion of mainstream understandings of family life, suffering, and resilience in refugee family trajectories in multiple contexts....

  15. Inside the Family Firm

    DEFF Research Database (Denmark)

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...

  16. Working mothers: Family-work conflict, job performance and family/work variables

    Directory of Open Access Journals (Sweden)

    Cynthia J Patel

    2006-10-01

    Full Text Available The present study examined the relationship between family-work conflict, job performance and selected work and family characteristics in a sample of working mothers employed at a large retail organization. The hypothesis of a negative relationship between family-work conflict and job performance was rejected. Married women reported significantly higher family-work conflict than unmarried women, while women in the highest work category gained the highest job performance rating. More than half the sample indicated that paid work was more important than their housework and reported that their working had a positive impact on their families. The findings are discussed in relation to the changing work and family identities of non-career women.

  17. Multiplex families with epilepsy

    Science.gov (United States)

    Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H.; Mangelsdorf, Marie; MacPherson, James N.; Carvill, Gemma L.; Mefford, Heather C.; Jackson, Graeme D.; Scheffer, Ingrid E.; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E.; Corbett, Mark; Mulley, John C.; Dibbens, Leanne M.; Korczyn, Amos D.

    2016-01-01

    Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. Results: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febrile seizure syndromes, 33 special syndromes, and 29 mixed. A total of 42 families remained unclassified. Pathogenic variants were identified in 49/211 families (23%). The majority were found in established epilepsy genes (e.g., SCN1A, KCNQ2, CSTB), but in 11 families, this cohort contributed to the initial discovery (e.g., KCNT1, PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically. Conclusion: A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical and inheritance patterns has highlighted the value of studying multiplex families and their contribution towards uncovering the genetic basis of the epilepsies. PMID:26802095

  18. The Fungal Defensin Family Enlarged

    Directory of Open Access Journals (Sweden)

    Jiajia Wu

    2014-08-01

    Full Text Available Fungi are an emerging source of peptide antibiotics. With the availability of a large number of model fungal genome sequences, we can expect that more and more fungal defensin-like peptides (fDLPs will be discovered by sequence similarity search. Here, we report a total of 69 new fDLPs encoded by 63 genes, in which a group of fDLPs derived from dermatophytes are defined as a new family (fDEF8 according to sequence and phylogenetic analyses. In the oleaginous fungus Mortierella alpine, fDLPs have undergone extensive gene expansion. Our work further enlarges the fungal defensin family and will help characterize new peptide antibiotics with therapeutic potential.

  19. Corporal punishment in rural Colombian families: prevalence, family structure and socio-demographic variables.

    Science.gov (United States)

    González, Martha Rocío; Trujillo, Angela; Pereda, Noemí

    2014-05-01

    To reveal the prevalence of corporal punishment in a rural area of Colombia and its correlates to family structure and other socio-demographic variables. A survey about childrearing and childcare was developed for this study, including a specific question about corporal punishment that was developed based on the Conflict Tactics Scale (CTS). Family structure was categorized as follows, based on previous literature: 'nuclear family,' 'single parent' family, 'extended family,' 'simultaneous family' and 'composed family.' Forty-one percent of the parents surveyed admitted they had used corporal punishment of their children as a disciplinary strategy. The type of family structure, the number of children living at home, the age of the children, the gender of the parent who answered the survey, and the age and gender of the partner were significant predictors of corporal punishment. Family structure is an important variable in the understanding of corporal punishment, especially in regard to nuclear families that have a large number of children and parents who started their parental role early in life. Copyright © 2013 Elsevier Ltd. All rights reserved.

  20. Corporate Governance Provisions, Family Involvement, and Firm Performance in Publicly Traded Family Firms

    Directory of Open Access Journals (Sweden)

    Esra Memili

    2015-07-01

    Full Text Available This study examines the moderation effects of corporate governance provisions on the link between family involvement (i.e., family ownership and family management in publicly-traded firms and firm performance by drawing upon agency theory, with a focus on principal-principal agency issues, and the extant family governance literature. We develop and test the hypotheses on 386 of the S&P 500 firms longitudinally. Findings support the hypotheses suggesting the moderation effects of the use of provisions (a protecting controlling owners in terms of their sustainability of controlling status, and (b protecting management legally on the inverted U-shaped relationship between family ownership and firm performance. We also found support for the moderation effects of provisions (c protecting controlling owners in terms of their voting rights, (d protecting noncontrolling owners, and (e protecting management monetarily on the inverted U-shaped relationship between family management and firm performance. By this, our study provides empirical support for the principal-principal agency perspective on the corporate governance in publicly-traded family firms. As such, it suggests new avenues of research for both the corporate governance literature, as well as for the theory of the family firm. Our study also offers insights to policy directed toward monitoring the actions of large shareholders such as family and enhancing the overall shareholder value in publicly-traded family firms.

  1. Large lepton mixings from continuous symmetries

    International Nuclear Information System (INIS)

    Everett, Lisa; Ramond, Pierre

    2007-01-01

    Within the broad context of quark-lepton unification, we investigate the implications of broken continuous family symmetries which result from requiring that in the limit of exact symmetry, the Dirac mass matrices yield hierarchical masses for the quarks and charged leptons, but lead to degenerate light neutrino masses as a consequence of the seesaw mechanism, without requiring hierarchical right-handed neutrino mass terms. Quark mixing is then naturally small and proportional to the size of the perturbation, but lepton mixing is large as a result of degenerate perturbation theory, shifted from maximal mixing by the size of the perturbation. Within this approach, we study an illustrative two-family prototype model with an SO(2) family symmetry, and discuss extensions to three-family models

  2. Family governance practices and teambuilding : Paradox of the enterprising family

    NARCIS (Netherlands)

    Berent-Braun, M.M.; Uhlaner, L.M.

    2012-01-01

    This paper explores the relationship between family governance practices and financial performance of the business and family assets of business-owning families. A business-owning family that shares a focus on preserving and growing wealth as a family is defined as the enterprising family. Results

  3. Distinct Profiling of Antimicrobial Peptide Families

    KAUST Repository

    Khamis, Abdullah M.

    2014-11-10

    Motivation: The increased prevalence of multi-drug resistant (MDR) pathogens heightens the need to design new antimicrobial agents. Antimicrobial peptides (AMPs) exhibit broad-spectrum potent activity against MDR pathogens and kills rapidly, thus giving rise to AMPs being recognized as a potential substitute for conventional antibiotics. Designing new AMPs using current in-silico approaches is, however, challenging due to the absence of suitable models, large number of design parameters, testing cycles, production time and cost. To date, AMPs have merely been categorized into families according to their primary sequences, structures and functions. The ability to computationally determine the properties that discriminate AMP families from each other could help in exploring the key characteristics of these families and facilitate the in-silico design of synthetic AMPs. Results: Here we studied 14 AMP families and sub-families. We selected a specific description of AMP amino acid sequence and identified compositional and physicochemical properties of amino acids that accurately distinguish each AMP family from all other AMPs with an average sensitivity, specificity and precision of 92.88%, 99.86% and 95.96%, respectively. Many of our identified discriminative properties have been shown to be compositional or functional characteristics of the corresponding AMP family in literature. We suggest that these properties could serve as guides for in-silico methods in design of novel synthetic AMPs. The methodology we developed is generic and has a potential to be applied for characterization of any protein family.

  4. Family Caregivers and Consumer Health Information Technology.

    Science.gov (United States)

    Wolff, Jennifer L; Darer, Jonathan D; Larsen, Kevin L

    2016-01-01

    Health information technology has been embraced as a strategy to facilitate patients' access to their health information and engagement in care. However, not all patients are able to access, or are capable of using, a computer or mobile device. Although family caregivers assist individuals with some of the most challenging and costly health needs, their role in health information technology is largely undefined and poorly understood. This perspective discusses challenges and opportunities of engaging family caregivers through the use of consumer-oriented health information technology. We compile existing evidence to make the case that involving family caregivers in health information technology as desired by patients is technically feasible and consistent with the principles of patient-centered and family-centered care. We discuss how more explicit and purposeful engagement of family caregivers in health information technology could advance clinical quality and patient safety by increasing the transparency, accuracy, and comprehensiveness of patient health information across settings of care. Finally, we describe how clarifying and executing patients' desires to involve family members or friends through health information technology would provide family caregivers greater legitimacy, convenience, and timeliness in health system interactions, and facilitate stronger partnerships between patients, family caregivers, and health care professionals.

  5. Distinct Profiling of Antimicrobial Peptide Families

    KAUST Repository

    Khamis, Abdullah M.; Essack, Magbubah; Gao, Xin; Bajic, Vladimir B.

    2014-01-01

    Motivation: The increased prevalence of multi-drug resistant (MDR) pathogens heightens the need to design new antimicrobial agents. Antimicrobial peptides (AMPs) exhibit broad-spectrum potent activity against MDR pathogens and kills rapidly, thus giving rise to AMPs being recognized as a potential substitute for conventional antibiotics. Designing new AMPs using current in-silico approaches is, however, challenging due to the absence of suitable models, large number of design parameters, testing cycles, production time and cost. To date, AMPs have merely been categorized into families according to their primary sequences, structures and functions. The ability to computationally determine the properties that discriminate AMP families from each other could help in exploring the key characteristics of these families and facilitate the in-silico design of synthetic AMPs. Results: Here we studied 14 AMP families and sub-families. We selected a specific description of AMP amino acid sequence and identified compositional and physicochemical properties of amino acids that accurately distinguish each AMP family from all other AMPs with an average sensitivity, specificity and precision of 92.88%, 99.86% and 95.96%, respectively. Many of our identified discriminative properties have been shown to be compositional or functional characteristics of the corresponding AMP family in literature. We suggest that these properties could serve as guides for in-silico methods in design of novel synthetic AMPs. The methodology we developed is generic and has a potential to be applied for characterization of any protein family.

  6. [Family therapy of encopresis].

    Science.gov (United States)

    Spitczok von Brisinski, Ingo; Lüttger, Fred

    2007-01-01

    Encopresis is a taboo symptom, which is connected with great suffering from mental pressure not only for the children concerned, but also their relatives. Family related approaches are indispensable to understand encopresis, because as a result of high symptom persistence and psychological comorbidity in many cases a purely behavior-therapeutic, symptom focused approach is not sufficient, and further psychotherapeutic interventions are necessary. There is a strong temporal correlation between family interaction and frequency of soiling and changes of interaction influence changes in soiling more than the other way round. In a literature review different family relationship patterns and approaches of family therapy are represented regarding encopresis. Meaningful differences for family therapy are represented regarding primary/secondary encopresis, encopresis with/without comorbid psychiatric disorder as well as encopresis with/without dysfunctional family interaction. Distinctions are made between symptom focused, not-symptom focused and combined family therapeutic approaches, which are illustrated with case examples of outpatient and inpatient treatment. Symptom focused family therapy like e.g. externalizing of the soiling is helpful also if no dysfunctional family interaction patterns are present, because all family members can contribute to treatment success according to their own resources.

  7. Family planning and health: the Narangwal experiment.

    Science.gov (United States)

    Faruqee, R

    1983-06-01

    The findings of a 7-year field experiment conducted in the Indian Punjab show that integrating family planning with health services is more effective and efficient than providing family planning separately. The field experiment was conducted between 1968 and 1974 at Narangwal in the Indian State of Punjab. It involved 26 villages, with a total population of 35,000 in 1971-72. The demographic characteristics of the villages were found to be typical of the area. 5 groups of villages were provided with different combinations of services for health, nutrition and family planning. A control group received no project services. A population study was made of the effects of integrating family planning with maternal and child health services. A nutritional study looked at the results of integrating nutritional care and health services. The effectiveness of integration was evaluated by identifying it both with increased use of family planning and improved health. Efficiency was judged by relating effectiveness to input costs. Distribution of the benefits was also examined. The effectiveness of these different combinations of services on the use of family planning was measured: 1) by all changes in the use of modern methods of family planning, 2) by the number of new acceptors, 3) by the changes in the proportion of eligible women using contraceptives, and 4) by how many people started to use the more effective methods. Results showed the use of family planning increased substantially in the experimental groups, whereas the control group remained constant. It was also found that, though the services combining family planning with maternal health care stimulated more use of family planning, they were more costly than the more integrated srevices. The Narangwal experiment provides significant evidence in favor of combining the provision of family planning and health services, but its potential for replication on a large scale needs to be studied.

  8. Extended family medicine training

    Science.gov (United States)

    Slade, Steve; Ross, Shelley; Lawrence, Kathrine; Archibald, Douglas; Mackay, Maria Palacios; Oandasan, Ivy F.

    2016-01-01

    Abstract Objective To examine trends in family medicine training at a time when substantial pedagogic change is under way, focusing on factors that relate to extended family medicine training. Design Aggregate-level secondary data analysis based on the Canadian Post-MD Education Registry. Setting Canada. Participants All Canadian citizens and permanent residents who were registered in postgraduate family medicine training programs within Canadian faculties of medicine from 1995 to 2013. Main outcome measures Number and proportion of family medicine residents exiting 2-year and extended (third-year and above) family medicine training programs, as well as the types and numbers of extended training programs offered in 2015. Results The proportion of family medicine trainees pursuing extended training almost doubled during the study period, going from 10.9% in 1995 to 21.1% in 2013. Men and Canadian medical graduates were more likely to take extended family medicine training. Among the 5 most recent family medicine exit cohorts (from 2009 to 2013), 25.9% of men completed extended training programs compared with 18.3% of women, and 23.1% of Canadian medical graduates completed extended training compared with 13.6% of international medical graduates. Family medicine programs vary substantially with respect to the proportion of their trainees who undertake extended training, ranging from a low of 12.3% to a high of 35.1% among trainees exiting from 2011 to 2013. Conclusion New initiatives, such as the Triple C Competency-based Curriculum, CanMEDS–Family Medicine, and Certificates of Added Competence, have emerged as part of family medicine education and credentialing. In acknowledgment of the potential effect of these initiatives, it is important that future research examine how pedagogic change and, in particular, extended training shapes the care family physicians offer their patients. As part of that research it will be important to measure the breadth and uptake of

  9. Internationalization of Family Businesses

    DEFF Research Database (Denmark)

    Boyd, Britta; Hollensen, Svend; Goto, Toshio

    2010-01-01

    This article focuses on the international joint venture formation process of family businesses. The reasoning behind Danfoss’ decision to cooperate with two competing family businesses in Japan and China as well as two nonfamily businesses in Canada and Britain will be analysed. In......-depth qualitative interviews reveal the driving forces on both sides and show how the psychic distance can be reduced between the different parent firms including the joint venture (JV) child. The purpose of this study is to compare equal split or equity joint ventures of non-family and family firms regarding...... the formation process including competences and cultures. The study indicates what core competences of a family business matter when cooperating in equal split joint ventures. Implications for family business owners and ideas for future research are discussed....

  10. Advancing family psychology.

    Science.gov (United States)

    Fiese, Barbara H

    2016-02-01

    To realize the broad and complex nature of the field of family psychology, I have slightly revised the mission statement of the Journal of Family Psychology (JFP) to capture contemporary scholarship in family psychology and to advance systems perspectives in this top-tier scientific journal. Over the next 6 years, I hope that authors will consider JFP as an outlet for their best work in the following areas: (1) JFP addresses societal challenges faced by families today; (2) JFP publishes important studies on what makes couple and family relationships work; (3) JFP is a leader in publishing reports that use cutting-edge sophisticated approaches to research design and data analysis; and (4) JFP imparts knowledge about effective therapy and prevention programs relevant to couples and families. The journal is also expanding its publication rate to eight issues per year. (c) 2016 APA, all rights reserved).

  11. Sharing family and household:

    DEFF Research Database (Denmark)

    Winther, Ida Wentzel

    Keynote: Family relationships are normatively assumed to be characterized by ‘sharing’, such as living together in the same home, occupying the same place, sharing stuff, blood and biology, spending special and ordinary time together, and consequently creating shared biographical experiences....... In that way, families are thrown into togetherness. At the same time, we see families in varying forms where 'sharing' is lived and contested differently. In Denmark, many children live in nuclear families, and many live in different variations of more than one household. For those who share household...... and family, 'sharing' will be a basic condition. No matter what, they should share life circumstances, more stories, more places and spaces, more households families with both kin and non-kin. This keynote addresses the particular of children’s experiences of living apart and/or living together in sharing...

  12. Mutation c.255delA in the PARK2 gene as cause of juvenile Parkinson´s disease in a large Colombian family Una mutación en el gen PARK2 causa enfermedad de Parkinson juvenil en una extensa familia colombiana

    Directory of Open Access Journals (Sweden)

    Nicolas Pineda Trujillo

    2009-05-01

    -hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi; mso-fareast-language:EN-US;} .MsoPapDefault {mso-style-type:export-only; margin-bottom:10.0pt; line-height:115%;} @page Section1 {size:612.0pt 792.0pt; margin:70.85pt 3.0cm 70.85pt 3.0cm; mso-header-margin:36.0pt; mso-footer-margin:36.0pt; mso-paper-source:0;} div.Section1 {page:Section1;} -->

    family: ";Times New Roman";,";serif";;" lang="EN-US">Parkinson´s is a common disease (PD caused by degeneration of dopaminergic neurons in the substantia nigra and other brain areas. Several genes and mutations have been mplicated in its pathogenesis, the latter have been identified mainly in the PARK2 gene.

    family: ";Times New Roman";,";serif";;" lang="EN-US">We report the evaluation of this gene and of its flanking region in a large family from the southwestern part of Colombia. The parents are first cousins and four out of their ten children were affected at juvenile age.

  13. The Role of Stress Exposure and Family Functioning in Internalizing Outcomes of Urban Families.

    Science.gov (United States)

    Sheidow, Ashli J; Henry, David B; Tolan, Patrick H; Strachan, Martha K

    2014-11-01

    Although research suggests that stress exposure and family functioning are associated with internalizing problems in adolescents and caregivers, surprisingly few studies have investigated the mechanisms that underlie this association. To determine whether family functioning buffers the development of internalizing problems in stress-exposed families, we assessed the relation between stress exposure, family functioning, and internalizing symptoms among a large sample of inner-city male youth and their caregivers living in poverty across five waves of data collection. We hypothesized that stress exposure and family functioning would predict development of subsequent youth and caregiver internalizing problems and that family functioning would moderate this relation, with higher functioning families demonstrating greater resiliency to stress exposure. We used a longitudinal, prospective design to evaluate whether family functioning (assessed at waves one through four) activated or buffered the effects of stress exposure (assessed at wave one) on subsequent internalizing symptoms (assessed at waves four and five). Stress from Developmental Transitions and family functioning were significant predictors of depressive symptoms and anxiety in youth; however, family functioning did not moderate the relation. Family functioning mediated the relation between stress from Daily Hassles and internalizing outcomes suggesting that poor parenting practices, low structure, and low emotional cohesion activate depression and anxiety in youth exposed to chronic and frequent everyday stressors. Surprisingly, only family functioning predicted depressive symptoms in caregivers. Results validate the use of a comprehensive, multi-informant assessment of stress when investigating internalizing outcomes in youth and support using family-based interventions in the treatment and prevention of internalizing.

  14. A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

    DEFF Research Database (Denmark)

    Svendsen, Mathias Tiedemann; Henningsen, Emil; Hertz, Jens Michael

    2014-01-01

    covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large...

  15. Familial Transient Global Amnesia

    Directory of Open Access Journals (Sweden)

    R.Rhys Davies

    2012-12-01

    Full Text Available Following an episode of typical transient global amnesia (TGA, a female patient reported similar clinical attacks in 2 maternal aunts. Prior reports of familial TGA are few, and no previous account of affected relatives more distant than siblings or parents was discovered in a literature survey. The aetiology of familial TGA is unknown. A pathophysiological mechanism akin to that in migraine attacks, comorbidity reported in a number of the examples of familial TGA, is one possibility. The study of familial TGA cases might facilitate the understanding of TGA aetiology.

  16. The DLGAP family

    DEFF Research Database (Denmark)

    Rasmussen, Andreas H; Rasmussen, Hanne B; Silahtaroglu, Asli

    2017-01-01

    downstream signalling in the neuron. The postsynaptic density, a highly specialized matrix, which is attached to the postsynaptic membrane, controls this downstream signalling. The postsynaptic density also resets the synapse after each synaptic firing. It is composed of numerous proteins including a family...... in the postsynapse, the DLGAP family seems to play a vital role in synaptic scaling by regulating the turnover of both ionotropic and metabotropic glutamate receptors in response to synaptic activity. DLGAP family has been directly linked to a variety of psychological and neurological disorders. In this review we...... focus on the direct and indirect role of DLGAP family on schizophrenia as well as other brain diseases....

  17. Instantons and Large N

    Science.gov (United States)

    Mariño, Marcos

    2015-09-01

    Preface; Part I. Instantons: 1. Instantons in quantum mechanics; 2. Unstable vacua in quantum field theory; 3. Large order behavior and Borel summability; 4. Non-perturbative aspects of Yang-Mills theories; 5. Instantons and fermions; Part II. Large N: 6. Sigma models at large N; 7. The 1=N expansion in QCD; 8. Matrix models and matrix quantum mechanics at large N; 9. Large N QCD in two dimensions; 10. Instantons at large N; Appendix A. Harmonic analysis on S3; Appendix B. Heat kernel and zeta functions; Appendix C. Effective action for large N sigma models; References; Author index; Subject index.

  18. Small Family, Smart Family? Family Size and the IQ Scores of Young Men. NBER Working Paper No. 13336

    Science.gov (United States)

    Black, Sandra E.; Devereux, Paul J.; Salvanes, Kjell G.

    2007-01-01

    How do families influence the ability of children? Cognitive skills have been shown to be a strong predictor of educational attainment and future labor market success; as a result, understanding the determinants of cognitive skills can lead to a better understanding of children's long run outcomes. This paper uses a large dataset on the male…

  19. On asymptotically efficient simulation of large deviation probabilities.

    NARCIS (Netherlands)

    Dieker, A.B.; Mandjes, M.R.H.

    2005-01-01

    ABSTRACT: Consider a family of probabilities for which the decay is governed by a large deviation principle. To find an estimate for a fixed member of this family, one is often forced to use simulation techniques. Direct Monte Carlo simulation, however, is often impractical, particularly if the

  20. Life in Remarriage Families.

    Science.gov (United States)

    Dahl, Ann Sale; And Others

    1987-01-01

    In preliminary findings from research interviews with nonclinical remarriage families who were not receiving treatment, both marital satisfaction and children's adjustment were described in primarily positive terms, especially after the first few years. Families reported that the process of managing complexities, uncertainties, and mixed feelings…

  1. Family Open House

    Science.gov (United States)

    Search Family Open House Join us for an afternoon of science fun. The Fermilab Family Open House is a party for children of all ages to learn about the world of physics. The Open House is supported by Open House? Check out our YouTube video to learn more! Explore physics concepts with hands-on

  2. Family Support and Education

    Science.gov (United States)

    Goldstein, Lou Ann

    2013-01-01

    Family involvement is essential to the developmental outcome of infants born into Neonatal Intensive Care Unit (NICU). In this article, evidence has been presented on the parent's perspective of having an infant in the NICU and the context of family. Key points to an educational assessment are also reviewed. Throughout, the parent's concerns and…

  3. Changing Families, Changing Workplaces

    Science.gov (United States)

    Bianchi, Suzanne M.

    2011-01-01

    American families and workplaces have both changed dramatically over the past half-century. Paid work by women has increased sharply, as has family instability. Education-related inequality in work hours and income has grown. These changes, says Suzanne Bianchi, pose differing work-life issues for parents at different points along the income…

  4. Family Perspectives on Prematurity

    Science.gov (United States)

    Zero to Three (J), 2003

    2003-01-01

    In this article, seven families describe their experiences giving birth to and raising a premature baby. Their perspectives vary, one from another, and shift over time, depending on each family's circumstances and the baby's developmental course. Experiences discussed include premature labor, medical interventions and the NICU, bringing the baby…

  5. Families Falling Apart.

    Science.gov (United States)

    Moynihan, Daniel Patrick

    1990-01-01

    Reviews trends in Black male unemployment, out-of-wedlock births, and the number of Aid to Families with Dependent Children cases over the past 25 years. Argues that family breakdown is creating a state of urban social chaos that could lead to martial law. (FMW)

  6. Family and household demography

    NARCIS (Netherlands)

    Willekens, F.J.C.; Zeng, Yi

    2009-01-01

    Households are groups of people that co-reside and share some resources. Families are households of related individuals. Household and family demography is the study of these primary social groups or social units, and in particular of group membership and the relationships between members of the

  7. Asteroid families, dynamics and astrometry

    International Nuclear Information System (INIS)

    Williams, J.G.; Gibson, J.

    1987-01-01

    The proper elements and family assignments for the 1227 Palomar-Leiden Survey asteroids of high quality were tabulated. In addition to the large table, there are also auxiliary tables of Mars crossers and commensurate objects, histograms of the proper element distributions, and a discussion. Probably the most important part of the discussion describes the Mars crossing boundary, how the closest distances of approach to Mars and Jupiter are calculated, and why the observed population of Mars crossers should bombard that planet episodically rather than uniformly. Analytical work was done to derive velocity distributions of family forming events from proper element distributions subject to assumptions which may be appropriate for cratering events. Software was developed for a microcomputer to permit plotting of the proper elements. Three orthogonal views are generated and stereo pairs can be printed when desired. This program was created for the study of asteroid families. The astrometry task is directed toward measuring and reducing positions on faint comets and the minor planets with less common orbits. The observational material is CCD frames taken with the Palomar 1.5 m telescope. Positions of 10 comets and 16 different asteroids were published on the Minor Planet Circulars

  8. THE CREATION OF HAUMEA'S COLLISIONAL FAMILY

    International Nuclear Information System (INIS)

    Schlichting, Hilke E.; Sari, Re'em

    2009-01-01

    Recently, the first collisional family was discovered in the Kuiper Belt. The parent body of this family, Haumea, is one of the largest objects in the Kuiper Belt and is orbited by two satellites. It has been proposed that the Haumea family was created from dispersed fragments that resulted from a giant impact. This proposed origin of the Haumea family is however in conflict with the observed velocity dispersion between the family members (∼ 140 m s -1 ) which is significantly less than the escape velocity from Haumea's surface (∼ 900 m s -1 ). In this paper we propose a different formation scenario for Haumea's collisional family. In our scenario the family members are ejected while in orbit around Haumea. This scenario, therefore, naturally gives rise to a lower velocity dispersion among the family members than expected from direct ejection from Haumea's surface. In our scenario Haumea's giant impact forms a single moon that tidally evolves outward until it suffers a destructive collision from which the family is created. We show that this formation scenario yields a velocity dispersion of ∼ 190 m s -1 among the family members which is in good agreement with the observations. We discuss an alternative scenario that consists of the formation and tidal evolution of several satellites that are ejected by collisions with unbound Kuiper Belt objects. However, the formation of the Haumea family in this latter way is difficult to reconcile with the large abundance of Kuiper Belt binaries. We, therefore, favor forming the family by a destructive collision of a single moon of Haumea. The probability for Haumea's initial giant impact in today's Kuiper Belt is less than 10 -3 . In our scenario, however, Haumea's giant impact can occur before the excitation of the Kuiper Belt and the ejection of the family members afterward. This has the advantage that one can preserve the dynamical coherence of the family and explain Haumea's original giant impact, which is several

  9. Family intervention for schizophrenia.

    Science.gov (United States)

    Pharoah, F M; Mari, J J; Streiner, D

    2000-01-01

    It has been showed that people with schizophrenia from families that express high levels of criticism, hostility, or over involvement, have more frequent relapses than people with similar problems from families that tend to be less expressive of their emotions. Psychosocial interventions designed to reduce these levels of expressed emotions within families now exist for mental health workers. These interventions are proposed as adjuncts rather than alternatives to drug treatments, and their main purpose is to decrease the stress within the family and also the rate of relapse. To estimate the effects of family psychosocial interventions in community settings for the care of those with schizophrenia or schizophrenia-like conditions compared to standard care. Electronic searches of the Cochrane Library (Issue 2, 1998), the Cochrane Schizophrenia Group's Register (June 1998), EMBASE (1981-1995) and MEDLINE (1966-1995) were undertaken and supplemented with reference searching of the identified literature. Randomised or quasi-randomised studies were selected if they focused on families of people with schizophrenia or schizoaffective disorder and compared community-orientated family-based psychosocial intervention of more than five sessions to standard care. Data were reliably extracted, and, where appropriate and possible, summated. Peto odds ratios (OR), their 95% confidence intervals (CI) and number needed to treat (NNT) were estimated. The reviewers assume that people who died or dropped out had no improvement and tested the sensitivity of the final results to this assumption. Family intervention may decrease the frequency of relapse (one year OR 0.57 CI 0.4-0.8, NNT 6.5 CI 4-14). The trend over time of this main finding is towards the null and some small but negative studies may not have been identified by the search. Family intervention may decrease hospitalisation and encourage compliance with medication but data are few and equivocal. Family intervention does not

  10. Fighting for the family

    DEFF Research Database (Denmark)

    Heiselberg, Maj Hedegaard

    2016-01-01

    ‘relational spaces’ that allow them to preserve intimate relationships despite geographical distances. Besides dealing with the practical responsibilities of everyday life, soldiers’ partners also fight to maintain the sense of closeness associated with normative ideals about family relations and a ‘good......The article explores how military deployment affects the everyday lives of Danish soldiers’ families. By approaching the challenges faced by soldiers and their partners from an anthropological perspective of the family, the article provides new insights into the social consequences of military...... deployment and the processes of militarization at home. Drawing on ethnographic examples from recent fieldwork among women, children, and soldiers at different stages of deployment, the article demonstrates how soldiers and their families attempt to live up to ideals about parenthood and family by creating...

  11. Maintenance of family networks

    DEFF Research Database (Denmark)

    marsico, giuseppina; Chaudhary, N; Valsiner, Jaan

    2015-01-01

    Families are social units that expand in time (across generations) and space (as a geographically distributed sub-structures of wider kinship networks). Understanding of intergenerational family relations thus requires conceptualization of communication processes that take place within a small...... collective of persons linked with one another by a flexible social network. Within such networks, Peripheral Communication Patterns set the stage for direct everyday life activities within the family context. Peripheral Communication Patterns are conditions where one family network member (A) communicates...... manifestly with another member (B) with the aim of bringing the communicative message to the third member (C) who is present but is not explicitly designated as the manifest addressee of the intended message. Inclusion of physically non-present members of the family network (elders living elsewhere, deceased...

  12. Negotiating Family Tracking

    DEFF Research Database (Denmark)

    Albrechtslund, Anders; Bøge, Ask Risom; Sonne Damkjær, Maja

    This presentation explores the question: What motivates the use of tracking technologies in families, and how does the use transform the relations between parent and child? The purpose is to investigate why tracking technologies are used in families and how these technologies potentially change...... the relation between parents and children. The use of tracking technologies in families implicate negotiations about the boundaries of trust and intimacy in parent-child relations which can lead to strategies of resistance or modification (Fotel and Thomsen, 2004; Rooney, 2010; Steeves and Jones, 2010......). In the presentation, we report from a qualitative study that focuses on intergenerational relations. The study draws on empirical data from workshops with Danish families as well as individual and group interviews. We aim to gain insights about the sharing habits and negotiations in intimate family relations...

  13. A sustentabilidade econômico-financeira da Estratégia Saúde da Família em municípios de grande porte The economic-financial sustainability of the Family Health Strategy in large municipalities

    Directory of Open Access Journals (Sweden)

    Gustavo Zoio Portela

    2011-03-01

    Full Text Available A universalização da Atenção Básica e o compromisso orçamentário do Ministério da Saúde com a Estratégia Saúde da Família (ESF através de novos incentivos sistemáticos de financiamento têm se destacado no cenário da política de saúde brasileira. Um dos grandes problemas é a expansão da estratégia para os grandes centros urbanos. Este artigo estuda a sustentabilidade econômico-financeira do ESF em municípios brasileiros com mais de 100 mil habitantes segundo indicadores selecionados, considerando a região geográfica a que pertencem, porte populacional e a participação no Projeto de Expansão e Consolidação Saúde da Família (Proesf. Os municípios da região Sudeste, mais desenvolvida do país, apresentam em média melhores desempenhos econômico-financeiros, porém valores médios de cobertura de ESF mais baixos. Os municípios das regiões Norte e Nordeste, com as menores médias para indicadores de sustentabilidade econômico-financeira, são os que mais fizeram esforço de evolução no período. Assim, observamos a dinâmica entre maior capacidade fiscal e de comprometimento orçamentário com o setor saúde para os municípios de maior porte e de regiões mais desenvolvidas economicamente, e maior vulnerabilidade e dependência de transferências federativas para os municípios de menor porte e em áreas menos desenvolvidas.The universalization of basic care and commitment budget of the Ministry of Health with the Family Health Strategy (ESF through new systematic financing incentives have been highlighted in the Brazilian health policy scenario. One of the great problems observed is the expansion of the strategy for large urban centres. This paper studies the economic-financial sustainability of ESF in Brazilian municipalities of more than 100 thousand inhabitants according to some selected indicators, considering the geographical region to which they belong, their population size and participation in Project

  14. Family Functioning and Child Psychopathology: Individual Versus Composite Family Scores.

    Science.gov (United States)

    Mathijssen, Jolanda J. J. P.; Koot, Hans M.; Verhulst, Frank C.; De Bruyn, Eric E. J.; Oud, Johan H. L.

    1997-01-01

    Examines the relationship of individual family members' perceptions and family mean and discrepancy scores of cohesion and adaptability with child psychopathology in a sample of 138 families. Results indicate that family mean scores, contrary to family discrepancy scores, explain more of the variance in parent-reported child psychopathology than…

  15. 75 FR 17946 - Family Report, MTW Family Report

    Science.gov (United States)

    2010-04-08

    ... DEPARTMENT OF HOUSING AND URBAN DEVELOPMENT [Docket No. FR-5376-N-25] Family Report, MTW Family... comments on the subject proposal. Tenant data is collected to understand demographic, family profile.... This Notice Also Lists the Following Information Title of Proposal: Family Report, MTW Family Report...

  16. Spending Less Time with the Family: The Decline of Family Ownership in the UK

    OpenAIRE

    Julian Franks; Colin Mayer; Stefano Rossi

    2003-01-01

    Family ownership was rapidly diluted in the twentieth century in Britain. The main cause was equity issued in the process of making acquisitions. In the first half of the century, it occurred in the absence of minority investor protection and relied on directors of target firms protecting the interests of shareholders. Families were able to retain control by occupying a disproportionate number of seats on the boards of firms. However, in the absence of large stakes, the rise of hostile takeov...

  17. Families of Sexual Minorities: Child Well-Being, Parenting Desires, and Expectations for Future Family Formation

    OpenAIRE

    Wondra, Danielle Leanne

    2017-01-01

    My dissertation project uses a multiple methodological approach—unfolding in three substantive chapters—to ask how gender, race/ethnicity, and socioeconomic status intersect with sexual identity to create unique experiences for sexual minorities in terms of parenting perspectives and expectations for family formation. Perspectives on family formation may differ for sexual minorities because they are socially positioned differently than heterosexual people, yet previous studies largely address...

  18. Family Characteristics of Children with Dyslexia.

    Science.gov (United States)

    Melekian, Badrig A.

    1990-01-01

    A retrospective review of 249 French children (ages 8-15) with severe dyslexia found that families were characterized by low occupational status and educational level for parents and predominance of high-ranking children in large sibships. Parental age and matrimonial status seemed unimportant. (Author/JDD)

  19. Sibling Family Practices: Guidelines for Healthy Boundaries

    Science.gov (United States)

    Johnson, Toni Cavanagh; Huang, Bevan Emma; Simpson, Pippa M.

    2009-01-01

    A questionnaire was given to 500 mental health and child welfare professionals asking for maximum acceptable ages for siblings to engage jointly in certain family practices related to hygiene, affection, and privacy. A large proportion of respondents felt it was never acceptable for siblings to take showers together (40%), kiss on the mouth (37%),…

  20. Child sexual abuse and family outcomes

    NARCIS (Netherlands)

    de Jong, Rinke; Bijleveld, C.C.J.H.

    2015-01-01

    This study aimed to examine the association between different characteristics of sexual abuse and adverse family outcomes in later life. Through archived court files, a large sample of Dutch men and women who have been sexually abused as a child could be identified. Outcome variables were assessed