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Sample records for large newfoundland families

  1. Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models

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    Kopciuk Karen A

    2009-10-01

    Full Text Available Abstract Background Accurate risk (penetrance estimates for associated phenotypes in carriers of a major disease gene are important for genetic counselling of at-risk individuals. Population-specific estimates of penetrance are often needed as well. Families ascertained from high-risk disease clinics provide substantial data to estimate penetrance of a disease gene, but these estimates must be adjusted for possible specific sources of bias. Methods A cohort of 12 independently ascertained HNPCC families harbouring a founder MSH2 mutation was identified from a cancer genetics clinic in St. John's, Newfoundland, Canada. Carrier status was known for 247 family members but phenotype information on up to 85 additional relatives with unknown carrier status was available; using modified segregation models these additional individuals could be included in the analyses. Three HNPCC-related phenotypes were evaluated as age at diagnosis of: any HNPCC cancer (first cancer, colorectal cancer (CRC, and endometrial cancer (EC for females. Results Lifetime (age 70 risk estimates for male and female carriers were similar for developing any HNPCC cancer (Males = 98.2%, 95% Confidence Interval (CI = (93.8%, 99.9%; Females = 92.8%, 95% CI = (82.4%, 99.1% but female carriers experienced substantially reduced lifetime risk for developing CRC compared to male carriers (Females = 38.9%, 95% CI = (24.2%, 62.1%; Males = 84.5%, 95% CI = (67.3%, 91.3%. Female non-carriers had very low lifetime risk for these two outcomes while male non-carriers had lifetime risks intermediate to the female carriers and non-carriers. Female carriers had a lifetime risk of developing EC of 82.4%. Relative risks for developing any HNPCC cancer (carriers relative to non-carriers were substantially greater for females compared to their male counterparts (Females = 54.8, 95%CI = (4.4, 379.8; Males = 9.7, 95% CI = (0.3, 23.8. Relative risks for developing CRC at age 70 were substantially greater

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

    Science.gov (United States)

    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 ...

  3. Genetic mapping of X-linked ocular albinism: Linkage analysis in a large Newfoundland kindred

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    Charles, S.J.; Moore, A.T.; Barton, D.E.; Yates, J.R.W. (Addenbrooke' s Hospital, Cambridge (United Kingdom)); Green, J.S. (Memorial Univ. of Newfoundland, St. John' s (Canada))

    1993-04-01

    Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Z[sub max] = 21.96 at [theta] = 0.01, confidence interval (CI) 0.0005--0.05) and linkage to DXS85 (782; Z[sub max] = 17.60 at [theta] = 0.07, CI = 0.03--0.13) and DXS237 (GMGX9; Z[sub max] = 15.20 at [theta] = 0.08, CI = 0.03--0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10[sup 10]:1 over other locations for the disease locus. 11 refs., 1 fig., 1 tab.

  4. The School Car: Bringing the Three R's to Newfoundland's Remote Railway Settlements (1936-1942).

    Science.gov (United States)

    Noseworthy, Randy P.

    During the mid-1930s, the main line of the Newfoundland (Canada) Railway stretched 547 miles from St. John's to Port aux Basques, and railway workers and their families lived along the line in small isolated settlements. The provincial department of education, the Newfoundland Railway, and the Anglo-Newfoundland Development Company devised an…

  5. The School Car: Bringing the Three R's to Newfoundland's Remote Railway Settlements (1936-1942).

    Science.gov (United States)

    Noseworthy, Randy P.

    During the mid-1930s, the main line of the Newfoundland (Canada) Railway stretched 547 miles from St. John's to Port aux Basques, and railway workers and their families lived along the line in small isolated settlements. The provincial department of education, the Newfoundland Railway, and the Anglo-Newfoundland Development Company devised an…

  6. 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/

  7. 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

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    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.

  8. Phonetic Change in Newfoundland English

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    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…

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

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    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.

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

    Science.gov (United States)

    Holland, Joanna; Chandurkar, Vikram

    2014-07-01

    A retrospective study detailing the circumstances surrounding diagnosis and treatment of pheochromocytomas with the associated genetic disorders. 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. 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. 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.

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

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    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…

  12. 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…

  13. Evaluation of 15 candidate genes for dilated cardiomyopathy in the Newfoundland dog.

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    Wiersma, Anje C; Stabej, Polona; Leegwater, Peter A J; Van Oost, Bernard A; Ollier, William E; Dukes-McEwan, Joanna

    2008-01-01

    Dilated cardiomyopathy (DCM) is a disease of the myocardium, which causes heart failure and premature death. It has been described in humans and several domestic animals. In the Newfoundland dog, DCM is an autosomal dominant disease with late onset and reduced penetrance. We analyzed 15 candidate genes for their involvement in DCM in the Newfoundland dog. Polymorphic microsatellite markers and single Nucleotide Polymorphisms were genotyped in 4 families of Newfoundland dogs segregating dilated cardiomyopathy for the genes encoding alpha-cardiac actin (ACTC), caveolin (CAVI), cysteine-rich protein 3 (CSRP3), LIM-domain binding factor 3 (LDB3), desmin (DES), lamin A/C (LMNA), myosin heavy polypeptide 7 (MYH7), delta-sarcoglycan (SGCD), troponin I (TNNTI3), troponin T (TNNT2), alpha-tropomyosin (TPMI), titin (TTN) and vinculin (VCL). A Logarithm of the odds (LOD) score of less than -2.0 in 2-point linkage analysis indicated exclusion of all but 2 genes, encoding CSRP3 and DES. A (LOD) score between -1.5 and -2.0 for CSRP3 and DES makes these genes unlikely causes of DCM in this dog breed. For the phospholamban (PLN) and titin cap (TTN) genes, a direct mutation screening approach was used. DNA sequence analysis of all exons showed no evidence that these genes are involved in DCM in the Newfoundland dog.

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

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    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.

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

    OpenAIRE

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

    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...

  16. Revisiting Executive Pay in Family-Controlled Firms: Family Premium in Large Business Groups

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    Cheong, Juyoung; Kim, Woochan

    2014-01-01

    According to the prior literature, family executives of family-controlled firms receive lower compensation than non-family executives. One of the key driving forces behind this is the existence of family members who are not involved in management, but own significant fraction of shares and closely monitor and/or discipline those involved in management. In this paper, we show that this assumption falls apart if family-controlled firm is part of a large business group, where most of the family ...

  17. 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...... have been analyzed using several climate proxies, including benthic foraminifera, diatoms, IP25, dinoflagellate cysts and XRF. Together, these cores provide high-resolution records of the changes in climatic conditions over the last ca. 13,000 years in the southern Labrador Sea. After the Younger Dryas...... ended, the beginning of the warmer early Holocene was recorded by an increase in productivity-linked foraminiferal and diatom assemblages, as well as a drop in the presence of the sea-ice indicator IP25 in core 14G (Pearce et al., 2012). Variability in atmospheric circulation during the Holocene...

  18. Aquatic invasive species: oyster thief in Newfoundland and Labrador waters

    National Research Council Canada - National Science Library

    2013-01-01

    Oyster thief was first reported washed up on shore near Arnold's Cove, Woody Island, and Spanish Room, Newfoundland, in July and August 2012, during Fisheries and Oceans Canada's aquatic invasive species surveys...

  19. Micmac People of Newfoundland: An Interview with Marilyn John

    Science.gov (United States)

    Gray, Viviane

    1976-01-01

    Marilyn John, vice-president of the Native Association of Newfoundland and Labrador discusses what the Native Association is doing for the Micmac Indians, the Micmacs' attitudes about their old cultural ways, the Micmac language, and the Micmacs' future. (NQ)

  20. Micmac People of Newfoundland: An Interview with Marilyn John

    Science.gov (United States)

    Gray, Viviane

    1976-01-01

    Marilyn John, vice-president of the Native Association of Newfoundland and Labrador discusses what the Native Association is doing for the Micmac Indians, the Micmacs' attitudes about their old cultural ways, the Micmac language, and the Micmacs' future. (NQ)

  1. Period-doubling cascades for large perturbations of Henon families

    OpenAIRE

    Sander, Evelyn; Yorke, James A.

    2009-01-01

    The Henon family has been shown to have period-doubling cascades. We show here that the same occurs for a much larger class: Large perturbations do not destroy cascades. Furthermore, we can classify the period of a cascade in terms of the set of orbits it contains, and count the number of cascades of each period. This class of families extends a general theory explaining why cascades occur.

  2. Asteroid families classification: exploiting very large data sets

    CERN Document Server

    Milani, Andrea; Knezevic, Zoran; Novakovic, Bojan; Spoto, Federica; Paolicchi, Paolo

    2013-01-01

    The number of asteroids with accurately determined orbits increases fast. The catalogs of asteroid physical observations have also increased, although the number of objects is still smaller than in the orbital catalogs. We developed a new approach to the asteroid family classification by combining the Hierarchical Clustering Method (HCM) with a method to add new members to existing families. This procedure makes use of the much larger amount of information contained in the proper elements catalogs, with respect to classifications using also physical observations for a smaller number of asteroids. Our work is based on the large catalog of the high accuracy synthetic proper elements (available from AstDyS). We first identify a number of core families; to these we attribute the next layer of smaller objects. Then, we remove all the family members from the catalog, and reapply the HCM to the rest. This gives both halo families which extend the core families and new independent families, consisting mainly of small...

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

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    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.

  4. 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

  5. Aquatic invasive species: vase tunicate in Newfoundland and Labrador waters

    National Research Council Canada - National Science Library

    2013-01-01

    .... Smaller numbers were found in Burin and Marystown on wharf structures. The species has not been found on any Newfoundland aquaculture farm to date. L'ascidie jaune a été identifiée pour la première fois à...

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

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    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.

  7. THE DEVELOPMENT OF VIRTUAL SCHOOLING IN NEWFOUNDLAND AND LABRADOR

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    Nadeem SAQLAIN

    2016-01-01

    Full Text Available K-12 online distance education is growing rapidly and many organizations focus on virtual schooling in Canada. The centre for Distance Learning and Innovation (CDLI was established in 2000 in Newfoundland and Labrador and has been offering numerous opportunities to rural high school students through online distance education. In this paper, the authors have outlined the historical development of distance education in Newfoundland and Labrador. The concept of distance education in NL is not a new phenomenon. It can be traced back in 1930s. Since then, several efforts have been made to enhance equality of educational opportunities to rural students. Despite the tremendous impact that the CDLI has had on distance education few related research documents or associated scholarly articles exist. At the end of the article some recommendations are made to improve virtual schooling in the province.

  8. Life history tactics of Atlantic salmon in Newfoundland

    OpenAIRE

    Gibson, John; Haedrich, Richard

    2006-01-01

    Popular articles about the Atlantic salmon (Salmo salar) usually state that ‘the Atlantic salmon is an anadromous species’, e.g. publications by the Atlantic Salmon Federation (North America), Atlantic Salmon Trust (UK), and WWF (World Wildlife Fund), and the life history is depicted as migration of juveniles from fresh water to the marine environment, with a return to where the fish were born as spawning adults. This article reviews the life history tactics of Atlantic salmon in Newfoundland...

  9. A family of dynamic models for large-eddy simulation

    Science.gov (United States)

    Carati, D.; Jansen, K.; Lund, T.

    1995-01-01

    Since its first application, the dynamic procedure has been recognized as an effective means to compute rather than prescribe the unknown coefficients that appear in a subgrid-scale model for Large-Eddy Simulation (LES). The dynamic procedure is usually used to determine the nondimensional coefficient in the Smagorinsky (1963) model. In reality the procedure is quite general and it is not limited to the Smagorinsky model by any theoretical or practical constraints. The purpose of this note is to consider a generalized family of dynamic eddy viscosity models that do not necessarily rely on the local equilibrium assumption built into the Smagorinsky model. By invoking an inertial range assumption, it will be shown that the coefficients in the new models need not be nondimensional. This additional degree of freedom allows the use of models that are scaled on traditionally unknown quantities such as the dissipation rate. In certain cases, the dynamic models with dimensional coefficients are simpler to implement, and allow for a 30% reduction in the number of required filtering operations.

  10. Projective maximal families of orthogonal measures with large continuum

    CERN Document Server

    Fischer, Vera; Tornquist, Asger

    2011-01-01

    We study maximal orthogonal families of Borel probability measures on $2^\\omega$ (abbreviated m.o. families) and show that there are generic extensions of the constructible universe $L$ in which each of the following holds: (1) There is a $\\Delta^1_3$-definable well order of the reals, there is a $\\Pi^1_2$-definable m.o. family, there are no $\\mathbf{\\Sigma}^1_2$-definable m.o. families and $\\mathfrak{b}=\\mathfrak{c}=\\omega_3$ (in fact any reasonable value of $\\mathfrak{c}$ will do). (2) There is a $\\Delta^1_3$-definable well order of the reals, there is a $\\Pi^1_2$-definable m.o. family, there are no $\\mathbf{\\Sigma}^1_2$-definable m.o. families, $\\mathfrak{b}=\\omega_1$ and $\\mathfrak{c}=\\omega_2$.

  11. 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

  12. 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…

  13. Corporate Social Responsibility in Large Family and Founder Firms

    OpenAIRE

    Block, Jörn; 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 level of corporate social responsibility concerns, whereas ownership by institutional investors is associated with a higher level of corporate social responsibility concerns and a lower level of corpor...

  14. The Holocene History of Placentia Bay, Newfoundland

    DEFF Research Database (Denmark)

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

    2013-01-01

    -surface temperatures and a simultaneous decline in Arctic water export, from ~4000 cal years to ~3000 cal years BP, which falls into the overall large-scale trend of cooling during the last ~5000 years of the Late Holocene, based on concentrations of exotic pollen in the core (Jessen et al., 2011). Preliminary results...

  15. Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MENI[sub Burin]) to chromosome 11q: Evidence for a founder effect in patients from Newfoundland

    Energy Technology Data Exchange (ETDEWEB)

    Petty, E.M.; Bale, A.E. (Yale Univ. School of Medicine, New Haven, CT (United States)); Green, J.S. (Memorial Univ. St. John' s, Newfoundland (Canada)); Marx, S.J. (National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD (United States)); Taggart, R.T. (Wayne State Univ., Detroit, MI (United States)); Farid, N. (King Faisal Specialist Hospital, Riyadh (Saudi Arabia))

    1994-06-01

    An autosomal dominant syndrome of prolactinomas, carcinoids, and hyperparathyroidism was described in four Newfoundland kindreds in 1980 and in one kindred from the Pacific Northwest in 1983. Because this syndrome shares many features with multiple endocrine neoplasia type 1, the gene for which maps to proximal chromosome 11q, the authors performed linkage studies with chromosome 11 markers in prolactinoma families to determine whether the two genes map to the same location. All proximal chromosome 11q markers gave positive LOD scores, and no recombinants were seen with PYGM (LOD score 15.25, recombination fraction .0). All affected individuals from Newfoundland shared the same PYGM allele, providing evidence for a founder effect. The disease in the Pacific Northwest kindred cosegregated with a different PYGM allele. 32 refs., 2 figs., 3 tabs.

  16. The public finance of medical and dental care in Newfoundland--some historical and economic considerations.

    Science.gov (United States)

    Brown, M C

    1981-04-01

    The article discusses the evolution of Newfoundland's health care system from the turn of the century to the present. During this time there were considerable changes in social conditions, political arrangements and the availability of public monies, all of which influenced the structure of the health care sector. In general terms, Newfoundland's health care system shifted from one involving low expenditures and many British type institutions to one involving high expenditures and American type institutions. The evidence suggests that the changes have been particularly beneficial for Newfoundland's merchant class, including the doctors and dentists, although some benefits have also accrued to patients and fishermen.

  17. 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.

  18. 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.

  19. Heinrich 0 at the Younger Dryas Termination Offshore Newfoundland

    Science.gov (United States)

    Pearce, C.; Andrews, J. T.; Jennings, A. E.; Bouloubassi, I.; Seidenkrantz, M. S.; Kuijpers, A.; Hillaire-Marcel, C.

    2014-12-01

    The last deglaciation was marked by intervals of rapid climatic fluctuations accompanied by glacial advances and retreats along the eastern edge of the Laurentide ice sheet. The most severe of these events, the Younger Dryas cold reversal, was accompanied by the major detrital carbonate (DC) event generally referred to as "Heinrich event 0" (H0) in the westernmost and southern Labrador Sea. A detrital carbonate layer was observed in a high resolution marine sediment record from southern Newfoundland and the onset of the event was dated to 11,600 ± 70 cal. yrs. BP (local ΔR = 140 yrs.). A variety of different proxies was applied to investigate the transport mechanisms for deposition of the layer and provenance of the carbonates. Elevated concentrations of dolomite and calcite based on quantitative X-ray diffraction measurements, combined with the presence of several mature petrogenic biomarkers limit the source of the H0 detrital input to Palaeozoic carbonate outcrops in north-eastern Canada. The event is attributed to the rapid ice retreat from the Hudson Strait directly following the warming at the onset of the Holocene. Based on additional proxy data published earlier from the same record, the event succeeded the early Holocene resumption of the Atlantic Meridional Overturning Circulation (AMOC), indicating that the Hudson Strait meltwater event had probably no significant impact on the AMOC. The detrital carbonate layer can be found in other marine sediment records along the Labrador Current pathway, from Hudson Strait to the Grand Banks and the southern Newfoundland slope. By using the onset of deposition of the carbonates as a time-synchronous marker, the DC layer has great potential for improving marine chronologies of late glacial age in the region and evaluating spatial variations in ΔR values.

  20. A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family

    Directory of Open Access Journals (Sweden)

    Chen Yujie

    2010-02-01

    Full Text Available Abstract Background Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II may be caused by mutations in dentin sialophosphoprotein (DSPP. However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China. Methods We identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking DSPP gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family. Results All affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A→G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals. Conclusion This study identified a novel mutation (IVS3+3A→G in DSPP, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.

  1. Salmonid Council of Newfoundland and Labrador comments on public discussion paper : Developing an energy plan for Newfoundland and Labrador

    Energy Technology Data Exchange (ETDEWEB)

    Hustins, D.

    2006-02-02

    The Government of Newfoundland and Labrador has promoted public debate on the future energy needs of the province in order to assess all alternatives. The Salmonid Council of Newfoundland and Labrador (SCNL) supports this effort and recognizes that new energy needs are necessary to support the developing economy. The SCNL has provided advice on preserving the valuable sport fishery for Atlantic salmon and trout in the province. The Council is dedicated to the conservation and wise management of salmonids and their habitat. The 12 affiliated members of the Council were identified along with other organizations that actively support the objectives of the SCNL. The Council has been active in the following activities: development of salmon and trout management plants; establishment of the Cooperation Agreement for Salmonid Enhancement; moratorium on the commercial exploitation of wild salmon; moratorium on small hydroelectric development; growth and development of community stewardship groups; conservation and restoration of salmon stocks in the province; and, the promotion of catch and release angling. This document reviewed issues such as the value of the sport fishing industry; stock status; effects of hydroelectric development on salmon; candidate rivers for hydroelectric development; and, recent investments in restoring salmonid habitat and stocks. This document also presented the Council's 12 recommendations to the government to develop the maximum amount of power with the least environmental damage. The Council's vision is to double the growth of sport fishery over the next 10 years through improved management of this resource which generates economic wealth throughout the province, particularly in rural areas that are greatly challenged in available economic opportunities.

  2. 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.

  3. A LARGE CLASS OF BINARY ZCZ SEQUENCE FAMILIES CONSTRUCTED BY PERIOD DOUBLING

    Institute of Scientific and Technical Information of China (English)

    Wang Jinsong; Qi Wenfeng

    2007-01-01

    In an Approximately Synchronized Code Division Multiple Access(AS-CDMA)communication svstem,a family with large number of Zero Correlation Zone(ZCZ)sequences is desired,which can satisfy the rapid increase of users.This paper presents a method to generate a(2L,2M,Z'cz)-ZCZ sequence family from an original(L,M,Zcz)-ZCZ sequence family,where Z'cz=Zcz if Zcz is even and Z'cz=Zcz-1 if Zcz is odd.This method can also recursively act on a ZCZ sequence family to construct a series of ZCZ sequence families with large sequence nutuber and zero correlation zone length identical to or one less than that of original ZCZ sequences.

  4. Models of population-based analyses for data collected from large extended families.

    Science.gov (United States)

    Wang, Wenyu; Lee, Elisa T; Howard, Barbara V; Fabsitz, Richard R; Devereux, Richard B; MacCluer, Jean W; Laston, Sandra; Comuzzie, Anthony G; Shara, Nawar M; Welty, Thomas K

    2010-12-01

    Large studies of extended families usually collect valuable phenotypic data that may have scientific value for purposes other than testing genetic hypotheses if the families were not selected in a biased manner. These purposes include assessing population-based associations of diseases with risk factors/covariates and estimating population characteristics such as disease prevalence and incidence. Relatedness among participants however, violates the traditional assumption of independent observations in these classic analyses. The commonly used adjustment method for relatedness in population-based analyses is to use marginal models, in which clusters (families) are assumed to be independent (unrelated) with a simple and identical covariance (family) structure such as those called independent, exchangeable and unstructured covariance structures. However, using these simple covariance structures may not be optimally appropriate for outcomes collected from large extended families, and may under- or over-estimate the variances of estimators and thus lead to uncertainty in inferences. Moreover, the assumption that families are unrelated with an identical family structure in a marginal model may not be satisfied for family studies with large extended families. The aim of this paper is to propose models incorporating marginal models approaches with a covariance structure for assessing population-based associations of diseases with their risk factors/covariates and estimating population characteristics for epidemiological studies while adjusting for the complicated relatedness among outcomes (continuous/categorical, normally/non-normally distributed) collected from large extended families. We also discuss theoretical issues of the proposed models and show that the proposed models and covariance structure are appropriate for and capable of achieving the aim.

  5. High dietary selenium intake is associated with less insulin resistance in the Newfoundland population.

    Science.gov (United States)

    Wang, Yongbo; Lin, Meiju; Gao, Xiang; Pedram, Pardis; Du, Jianling; Vikram, Chandurkar; Gulliver, Wayne; Zhang, Hongwei; Sun, Guang

    2017-01-01

    As an essential nutrient, Selenium (Se) is involved in many metabolic activities including mimicking insulin function. Data on Se in various biological samples and insulin resistance are contradictory, moreover there is no large study available regarding the relationship of dietary Se intake with insulin resistance in the general population. To investigate the association between dietary Se intake and variation of insulin resistance in a large population based study, a total of 2420 subjects without diabetes from the CODING (Complex Diseases in the Newfoundland Population: Environment and Genetics) study were assessed. Dietary Se intake was evaluated from the Willett Food Frequency questionnaire. Fasting blood samples were used for the measurement of glucose and insulin. Insulin resistance was determined with the homeostasis model assessment (HOMA-IR). Body composition was measured using dual energy X-ray absorptiometry. Analysis of covariance showed that high HOMA-IR groups in both males and females had the lowest dietary Se intake (μg/kg/day) (p Insulin resistance decreased with the increase of dietary Se intake in females but not in males after controlling for age, total calorie intake, physical activity level, serum calcium, serum magnesium, and body fat percentage (p insulin resistance when total dietary Se intake was below 1.6 μg/kg/day. Above this cutoff, this beneficial effect disappears.

  6. Holocene climate change in Newfoundland reconstructed using oxygen isotope analysis of lake sediment cores

    Science.gov (United States)

    Finkenbinder, Matthew S.; Abbott, Mark B.; Steinman, Byron A.

    2016-08-01

    Carbonate minerals that precipitate from open-basin lakes can provide archives of past variations in the oxygen isotopic composition of precipitation (δ18Oppt). Holocene δ18Oppt records from the circum- North Atlantic region exhibit large fluctuations during times of rapid ice sheet deglaciation, followed by more stable conditions when interglacial boundary conditions were achieved. However, the timing, magnitude, and climatic controls on century to millennial-scale variations in δ18Oppt in northeastern North America are unclear principally because of a dearth of paleo-proxy data. Here we present a lacustrine sediment oxygen isotope (δ18O) record spanning 10,200 to 1200 calendar years before present (cal yr BP) from Cheeseman Lake, a small, alkaline, hydrologically open lake basin located in west-central Newfoundland, Canada. Stable isotope data from regional lakes, rivers, and precipitation indicate that Cheeseman Lake water δ18O values are consistent with the isotopic composition of inflowing meteoric water. In light of the open-basin hydrology and relatively short water residence time of the lake, we interpret down-core variations in calcite oxygen isotope (δ18Ocal) values to primarily reflect changes in δ18Oppt and atmospheric temperature, although other factors such as changes in the seasonality of precipitation may be a minor influence. We conducted a series of climate sensitivity simulations with a lake hydrologic and isotope mass balance model to investigate theoretical lake water δ18O responses to climate change. Results from these experiments suggest that Cheeseman Lake δ18O values are primarily controlled by temperature and to a much lesser extent, the seasonality of precipitation. Increasing and more positive δ18Ocal values between 10,200 and 8000 cal yr BP are interpreted to reflect the waning influence of the Laurentide Ice Sheet on atmospheric circulation, warming temperatures, and rapidly changing surface ocean δ18O from the input of

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

    Energy Technology Data Exchange (ETDEWEB)

    Locke, W. [Memorial Univ. of Newfoundland, St. John' s, NL (Canada)

    2006-07-01

    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.

  8. Prevention of beta-thalassemia in a large Pakistani family through cascade testing.

    Science.gov (United States)

    Baig, S M; Din, M A; Hassan, H; Azhar, A; Baig, J M; Aslam, M; Anjum, I; Farooq, M; Hussain, M S; Rasool, M; Nawaz, S; Qureshi, J A; Zaman, T

    2008-01-01

    We report cascade testing of a large Pakistani family for beta-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births. The objective of this study was to show that identification of disease carriers in families with index cases in order to create awareness about disease and provide genetic counseling would result in reduction of the frequency of beta-thalassemia in Pakistan. In this large family with an index case, 27 available living members were tested for beta-thalassemia. Carriers of the disease were detected by measuring hemoglobin indices, and amplification refractory mutation system polymerase chain reaction was used for mutation analysis. Genetic counseling was provided to members of this family. There were already 3 marriages between the carrier members and 1 between a carrier and noncarrier in this large family; 12 (44.4%) members were found to carry the mutant gene, representing a very high carrier rate compared to the 5.4% carrier frequency of beta-thalassemia in the general population of Pakistan. The family was counseled for prevention of affected births. The initially reluctant family gradually became cooperative and seriously attended the genetic counseling sessions. Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. This report emphasizes the need of extensive testing within families with index cases to identify the carriers of beta-thalassemia in order to reduce disease occurrence through awareness and genetic counseling. (c) 2008 S. Karger AG, Basel

  9. 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.

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

    Science.gov (United States)

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

    2011-02-01

    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 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.

  11. Structure and evolutionary history of a large family of NLR proteins in the zebrafish.

    Science.gov (United States)

    Howe, Kerstin; Schiffer, Philipp H; Zielinski, Julia; Wiehe, Thomas; Laird, Gavin K; Marioni, John C; Soylemez, Onuralp; Kondrashov, Fyodor; Leptin, Maria

    2016-04-01

    Multicellular eukaryotes have evolved a range of mechanisms for immune recognition. A widespread family involved in innate immunity are the NACHT-domain and leucine-rich-repeat-containing (NLR) proteins. Mammals have small numbers of NLR proteins, whereas in some species, mostly those without adaptive immune systems, NLRs have expanded into very large families. We describe a family of nearly 400 NLR proteins encoded in the zebrafish genome. The proteins share a defining overall structure, which arose in fishes after a fusion of the core NLR domains with a B30.2 domain, but can be subdivided into four groups based on their NACHT domains. Gene conversion acting differentially on the NACHT and B30.2 domains has shaped the family and created the groups. Evidence of positive selection in the B30.2 domain indicates that this domain rather than the leucine-rich repeats acts as the pathogen recognition module. In an unusual chromosomal organization, the majority of the genes are located on one chromosome arm, interspersed with other large multigene families, including a new family encoding zinc-finger proteins. The NLR-B30.2 proteins represent a new family with diversity in the specific recognition module that is present in fishes in spite of the parallel existence of an adaptive immune system. © 2016 The Authors.

  12. Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases.

    Science.gov (United States)

    Wood, Claire L; Warnell, Frances; Johnson, Mary; Hames, Annette; Pearce, Mark S; McConachie, Helen; Parr, Jeremy R

    2015-02-01

    Following a diagnosis of a developmental disorder such as autism spectrum disorder (ASD) in early childhood, parents may decide to have fewer children than previously planned. The tendency for families to halt reproduction after receiving a diagnosis for one child is known as reproductive stoppage. Stoppage may lead to an underestimate of recurrence risk estimates of parents having more than one child with ASD. Using two large UK ASD family databases, we investigated recurrence rates for ASD and evidence for reproductive stoppage for both ASD and undiagnosed ASD/broader autism phenotype in a subgroup of families. Reproductive stoppage was tested for using the Mann-Whitney U-test to disprove the null hypothesis that affected and nonaffected children were distributed randomly by birth order. Dahlberg's later-sib method was used to estimate recurrence risk and take stoppage into account. Data were available from 299 families (660 children) including 327 with ASD. Ten percent of the complete families had more than one child with an ASD. Using Dahlberg's later-sib method, the recurrence risk for ASD was 24.7% overall and 50.0% in families with two or more older siblings with ASD. Children with ASD were born significantly later in families than those without ASD in all sibship combinations. This study shows strong evidence that ASD is associated with reproductive stoppage. These data have important implications for family planning and genetic counseling. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.

  13. A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.

    Science.gov (United States)

    Molven, Anders; Grimstvedt, Magne B; Steine, Solrun J; Harland, Mark; Avril, Marie-Françoise; Hayward, Nicholas K; Akslen, Lars A

    2005-09-01

    Mutations in two loci encoding cell-cycle-regulatory proteins have been shown to cause familial malignant melanoma. About 20% of melanoma-prone families bear a mutation in the CDKN2A locus, which encodes two unrelated proteins, p16INK4A and p14ARF. Mutations in the other locus, CDK4, are much rarer and have been linked to the disease in only three families worldwide. In the 1960s, a large Norwegian pedigree with multiple atypical nevi and malignant melanomas was identified. Subsequently, six generations and more than 100 family members were traced and 20 cases of melanoma verified. In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. Intriguingly, one of the family members had ocular melanoma, but the CDK4 mutation could not be detected in archival tissue samples from this subject. Thus, the case of ocular melanoma in this family was sporadic, suggesting an etiology different from that of the skin tumors. The CDK4 mutation in the Norwegian family was identical to that in melanoma families in France, Australia, and England. Haplotype analysis using microsatellite markers flanking the CDK4 gene and single-nucleotide polymorphisms within the gene did not support the possibility that there was a common founder, but rather indicated at least two independent mutational events. All CDK4 melanoma families known to date have a substitution of amino acid 24. In addition to resulting from selection pressure, this observation may be explained by the CG dinucleotide of codon 24 representing a mutational hot spot in the CDK4 gene.

  14. Trace element concentrations in harvested auks from Newfoundland: Toxicological risk of a traditional hunt.

    Science.gov (United States)

    Bond, Alexander L; Robertson, Gregory J; Lavers, Jennifer L; Hobson, Keith A; Ryan, Pierre C

    2015-05-01

    Common (Uria aalge) and Thick-billed Murres (Uria lomvia) are apex predators in the North Atlantic Ocean, and are also subject to a traditional hunt in Newfoundland and Labrador during the winter months, along with small numbers of illegally harvested Razorbills (Alca torda). Because of their high trophic position, auks are at risk from high contaminant burdens that bioaccumulate and biomagnify, and could therefore pose a toxicological risk to human consumers. We analysed trace element concentrations from breast muscle of 51 auks collected off Newfoundland in the 2011-2012 hunting season. There were few differences in contaminant concentrations among species. In total, 14 (27%) exceeded Health Canada or international guidelines for arsenic, lead, or cadmium; none exceeded guidelines for mercury. Cadmium concentrations >0.05μg/g have persisted in Newfoundland murres for the last 25 years. We urge the integration of this consumptive harvest for high-trophic marine predators into periodic human health risk assessments.

  15. Clinical expression of developmental coordination disorder in a large Canadian family

    OpenAIRE

    2008-01-01

    Previous studies of the phenotype of developmental coordination disorder (DCD) have largely concentrated on population-based samples. The present study reports on an in-depth examination of a large Canadian family with eight children, after three children who were suspected to have DCD were referred for evaluation. Subsequently, five of the six children whose motor impairments could be measured, and the mother, met the diagnostic criteria for DCD as per the American Psychiatric Association’s ...

  16. On several families of elliptic curves with arbitrary large Selmer groups

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    In this paper,we calculate the ()-Selmer groups S()(E/Q) and S()(E/Q) of elliptic curves y2 = x(x + εpD)(x + εqD) via the descent method.In particular,we show that the Selmer groups of several families of such elliptic curves can be arbitrary large.

  17. Familiality of Co-existing ADHD and Tic Disorders: Evidence from a Large Sibling Study

    NARCIS (Netherlands)

    Roessner, V.; Banaschewski, T.; Becker, A.; Buse, J.; Wanderer, S.; Buitelaar, J.K.; Sergeant, J.A.; Sonuga-Barke, E.J.; Gill, M.; Manor, I.; Miranda, A.; Mulas, F.; Oades, R.D.; Roeyers, H.; Steinhausen, H.C.; Faraone, S.V; Asherson, P.; Rothenberger, A.

    2016-01-01

    BACKGROUND: 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-

  18. No association of candidate genes with cannabis use in a large sample of Australian twin families

    NARCIS (Netherlands)

    Verweij, K.J.H.; Zietsch, B.P.; Liu, J.Z.; Medland, S.E.; Lynskey, M.T.; Madden, P.A.F.; Agrawal, A.; Montgomery, G.W.; Heath, A.C.; Martin, N.G.

    2012-01-01

    While there is solid evidence that cannabis use is heritable, attempts to identify genetic influences at the molecular level have yielded mixed results. Here, a large twin family sample (n = 7452) was used to test for association between 10 previously reported candidate genes and lifetime frequency

  19. Use of SAR imagery and other remotely-sensed data in deriving ice information during a severe ice event on the Grand Banks (Newfoundland)

    Science.gov (United States)

    Carsey, F. D.; Argus, S. D.

    1988-01-01

    Image data from synthetic aperture radar (SAR) are used to observe an ice compaction event off the East Coast of Newfoundland in spring, 1987. The information developed from sequential SAR observations is shown to do a remarkably effective job of describing the ice conditions; the difficult variable is the ice thickness which is found to be surprisingly large (2 to 4 times the thickness predictable from thermodynamic growth alone). It may be possible to model the ice thickness using SAR-derived ice motion.

  20. 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.

  1. 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.

  2. Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

    Directory of Open Access Journals (Sweden)

    Eugênia Ribeiro Valadares

    2011-02-01

    Full Text Available OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease (OMIM #204200 belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.

  3. Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing

    Directory of Open Access Journals (Sweden)

    Sokolenko Anna P

    2009-01-01

    Full Text Available Abstract Although the probability of both parents being affected by BRCA1 mutations is not negligible, such families have not been systematically described in the literature. Here we present a large breast-ovarian cancer family, where 3 sisters and 1 half-sister inherited maternal BRCA1 5382insC mutation while the remaining 2 sisters carried paternal BRCA1 1629delC allele. No BRCA1 homozygous mutations has been detected, that is consistent with the data on lethality of BRCA1 knockout mice. This report exemplifies that the identification of a single cancer-predisposing mutation within the index patient may not be sufficient in some circumstances. Ideally, all family members affected by breast or ovarian tumor disease have to be subjected to the DNA testing, and failure to detect the mutation in any of them calls for the search of the second cancer-associated allele.

  4. Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing

    Science.gov (United States)

    Sokolenko, Anna P; Voskresenskiy, Dmitry A; Iyevleva, Aglaya G; Bit-Sava, Elena M; Gutkina, Nadezhda I; Anisimenko, Maxim S; Yu Sherina, Nathalia; Mitiushkina, Nathalia V; Ulibina, Yulia M; Yatsuk, Olga S; Zaitseva, Olga A; Suspitsin, Evgeny N; Togo, Alexandr V; Pospelov, Valery A; Kovalenko, Sergey P; Semiglazov, Vladimir F; Imyanitov, Evgeny N

    2009-01-01

    Although the probability of both parents being affected by BRCA1 mutations is not negligible, such families have not been systematically described in the literature. Here we present a large breast-ovarian cancer family, where 3 sisters and 1 half-sister inherited maternal BRCA1 5382insC mutation while the remaining 2 sisters carried paternal BRCA1 1629delC allele. No BRCA1 homozygous mutations has been detected, that is consistent with the data on lethality of BRCA1 knockout mice. This report exemplifies that the identification of a single cancer-predisposing mutation within the index patient may not be sufficient in some circumstances. Ideally, all family members affected by breast or ovarian tumor disease have to be subjected to the DNA testing, and failure to detect the mutation in any of them calls for the search of the second cancer-associated allele. PMID:19338681

  5. RET mutations in a large indian family with medullary thyroid carcinoma

    Directory of Open Access Journals (Sweden)

    D M Mahesh

    2014-01-01

    Full Text Available Background: Medullary thyroid carcinoma (MTC is a tumor arising from the para follicular (C cells of the thyroid gland and can occur either sporadically or as part of an inherited syndrome. A proportion of these cases carry an autosomal dominant mutation in the RET (REarranged during Transfection proto-oncogene. Screening for these mutations in the affected patients and the carriers ′′at risk′′ which includes the first-degree relatives is of utmost importance for early detection and prompt treatment including prophylactic thyroidectomy in cases that harbor these mutations. Results: This report presents details of screening and subsequent follow-up of a large Indian family, where the index case was found to carry p.Cys634Ser mutation involving exon 11 of the RET gene. These data are of value considering the paucity of information within the region in context of screening large families affected by these mutations.

  6. Mutation analysis of PAX6 gene in a large Chinese family with aniridia

    Institute of Scientific and Technical Information of China (English)

    SONG Shu-juan; LIU Ying-zhi; CONG Ri-chang; JIN Ying; HOU Zhi-qiang; MA Zhi-zhong; REN Guo-cheng; LI Ling-song

    2005-01-01

    Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

  7. Clinical expression of developmental coordination disorder in a large Canadian family.

    Science.gov (United States)

    Gaines, Robin; Collins, David; Boycott, Kym; Missiuna, Cheryl; Delaat, Denise; Soucie, Helen

    2008-11-01

    Previous studies of the phenotype of developmental coordination disorder (DCD) have largely concentrated on population-based samples. The present study reports on an in-depth examination of a large Canadian family with eight children, after three children who were suspected to have DCD were referred for evaluation. Subsequently, five of the six children whose motor impairments could be measured, and the mother, met the diagnostic criteria for DCD as per the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders - fourth edition. The family members diagnosed with DCD showed remarkably similar profiles of motor difficulties. Additionally, the five children diagnosed with DCD had current speech articulation difficulties, with four of them having visited speech/language pathologists; the mother had a lateral lisp. More in-depth testing for three children revealed intact intellectual, academic and language comprehension skills. Three of the children diagnosed with DCD were obese. The present report highlights familial clustering of DCD and the presence of comorbid conditions in the affected children.

  8. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

    Science.gov (United States)

    Williams, Lacey S; Demir Eksi, Durkadin; Shen, Yiping; Lossie, Amy C; Chorich, Lynn P; Sullivan, Megan E; Phillips, John A; Erman, Munire; Kim, Hyung-Goo; Alper, Ozgul M; Layman, Lawrence C

    2017-07-01

    To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. Laboratory- and community-based study. Academic medical centers. A total of 147 MRKH probands and available family members. DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients, chromosomal microarray analysis in 31 North American MRKH patients, and characterization and sample collection of 147 North American and Turkish MRKH probands and their families. DNA sequence variants and CNVs; pedigree structural analysis. We report finding CNVs in 6/31 people (∼19%) with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was ∼19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH. Copyright © 2017 American Society for Reproductive Medicine. All rights reserved.

  9. Customer orientation of cruise destinations in Newfoundland and Labrador, Canada – exploring key issues for ports and the cruise lines

    OpenAIRE

    Hull, John S.; Losekoot, Erwin

    2011-01-01

    This paper evaluates the customer needs of cruise passengers in a context of industry ports in the province of Newfoundland and Labrador, Canada. The study was conducted for the Cruise Association of Newfoundland and Labrador (CANAL) providing primary data as part of their assessment for their Port Readiness Program. The results are generated from a survey of 34 key decision-makers working in 24 ports in the province. Another survey representing the views of 12 cruise lines operating in these...

  10. 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.

  11. Familiality of Co-existing ADHD and Tic Disorders: Evidence from a Large Sibling Study

    OpenAIRE

    Roessner, Veit; Banaschewski, Tobias; Becker, Andreas; Buse, Judith; Wanderer, Sina; Buitelaar, Jan K.; Sergeant, Joseph A.; Sonuga-Barke, Edmund J; Gill, Michael; Manor, Iris; Miranda, Ana; Mulas, Fernando; Oades, Robert D.; Roeyers, Herbert; Steinhausen, Hans-Christoph

    2016-01-01

    BACKGROUND 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 stu...

  12. 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...

  13. Impact of Large Family Size on the Reproductive Health of Women at Palosi Peshawar

    Directory of Open Access Journals (Sweden)

    Anwar Alam

    2012-04-01

    Full Text Available This study was under taken on, “Impact of large family size on the reproductive health of women at Palosi Peshawar”. For this study the researcher contacted 30 women respondents on purposive sampling basis out of 332 married women in Palosi Peshawar (DCR 1998 Peshawar. Interview schedule was used as a tool of data collection for illiterate respondents while questionnaire was used for educated respondents. The study indicates that due to illiteracy and ignorance, the women of rural areas are unaware about the complications, facilities, problems and precautions. They faced work pressure during pregnancy due to joint family system. Mostly the respondents were facing health problems during pregnancy due to the non-availability of female doctors, LHV/LHW were not visiting their home, no facilities of maternity clinics and lack of medicines. The desire for more children affected the mother child health and led to physical, psychological problems and also affect the reproductive health of woman and also caused excessive deliveries, which were harmful to mother child health. The reproductive problems of respondents can be resolved through proper nutrition, availability of maternity clinics, reproductive health centers, family health & welfare centers, quality contraceptives and proper medicines.

  14. Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

    Science.gov (United States)

    Li, Bin; Liu, Yuying; Liu, Yaning; Guo, Hui; Hu, Zhengmao; Xia, Kun; Jin, Xuemin

    2016-03-01

    The congenital cataract has been a clinically important cause of impaired vision development, making up about 10% of the cases of childhood blindness. Mutations of more than 40 genes have been identified causing congenital cataract with Mendelian inheritance, which indicated that it has an extremely high genetic heterogeneity. In this study, we recruited a large congenital cataract family and identified a missense mutation (c.143A>G: p.E48G) within gap junction protein alpha-3 (GJA3) gene in the proband using whole exome sequencing. Subsequent Sanger sequencing of this mutation in all family members revealed that this mutation cosegregated with the phenotype in the family with full penetrance. Our study identified a mutation in GJA3 that correlated with congenital cataract phenotype, which was not reported previously, and would be of benefit to the diagnosis of this genetic disorder. This finding expands the mutation spectrum of GJA3 and provides useful information for further study of the molecular pathogenesis of congenital cataract.

  15. Endoparasites of the coyote (Canis latrans), a recent migrant to insular newfoundland.

    Science.gov (United States)

    Bridger, Kimberly E; Baggs, Eric M; Finney-Crawley, Jean

    2009-10-01

    This study provides the first data on the helminth fauna of the coyote (Canis latrans) in insular Newfoundland. Sixty-nine coyotes were collected between 2001 and 2003 and examined for helminths. A total of 10 helminth species were recorded: the cestodes Taenia ovis krabbei (9%), Taenia hydatigena (4%), Taenia pisiformis (1%), and Mesocestoides spp. (5%); and the nematodes Toxocara canis (19%), Toxascaris leonina (1%), Crenosoma vulpis (19%), Physaloptera rara (6%), Uncinaria stenocephala (3%), and Angiostrongylus vasorum (1%). No significant differences (P< or =0.05) were detected between sexes. Mesocestoides spp., T. canis, and C. vulpis were more prevalent in juveniles than adults. Angiostrongylus vasorum is reported in coyotes for the second time in Newfoundland, Canada.

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

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    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

  17. Constraining lithosphere deformation modes during continental breakup for the Iberia-Newfoundland conjugate rifted margins

    Science.gov (United States)

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

    2016-06-01

    A kinematic model of lithosphere and asthenosphere deformation has been used to investigate lithosphere stretching and thinning modes during continental rifting leading to breakup and seafloor spreading. The model has been applied to two conjugate profiles across the Iberia-Newfoundland rifted margins and quantitatively calibrated using observed present-day water loaded subsidence and crustal thickness, together with observed mantle exhumation, subsidence and melting generation histories. The kinematic model uses an evolving prescribed flow-field to deform the lithosphere and asthenosphere leading to lithospheric breakup from which continental crustal thinning, lithosphere thermal evolution, decompression melt initiation and subsidence are predicted. We explore the sensitivity of model predictions to extension rate history, deformation migration and buoyancy induced upwelling. The best fit calibrated models of lithosphere deformation evolution for the Iberia-Newfoundland conjugate margins require; (1) an initial broad region of lithosphere deformation with passive upwelling, (2) lateral migration of deformation, (3) an increase in extension rate with time, (4) focussing of the deformation and (5) buoyancy induced upwelling. The model prediction of exhumed mantle at the Iberia-Newfoundland margins, as observed, requires a critical threshold of melting to be exceeded before melt extraction. The preferred calibrated models predict faster extension rates and earlier continental crustal separation and mantle exhumation for the Iberia Abyssal Plain-Flemish Pass conjugate margin profile than for the Galicia Bank-Flemish Cap profile to the north. The predicted N-S differences in the deformation evolution give insights into the 3D evolution of Iberia-Newfoundland margin crustal separation.

  18. Grief Reporting: A Print Media Content Analysis of the Gander, Newfoundland Air Disaster

    Science.gov (United States)

    1988-03-11

    SUBJXCTTERMS Media; newspaper reporting; Gander, Newfoundland1s. NUMBEROF PAGES disasters; grief reporting; thanatology ; media-military 125...Purpose of Study 2 Statement of the Problem 3 Chapter II Conceptual Framework Crisis and Grief Reporting 11 Thanatology 15 Hypothesis to be Tested 21...reporters, they all set their jobs aside and we talked as people. I really appreciated that.ŕ 6 Thanatology Thanatology , "the secular study of death and

  19. MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large Italian family.

    Science.gov (United States)

    Del Balzo, Francesca; Spalice, Alberto; Perla, Massimo; Properzi, Enrico; Iannetti, Paola

    2009-01-01

    Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This study describes a large family with the MTHFR mutation and a combination of heterozygous factor V Leiden mutations and different additional exogenous and endogenous thrombogenic risk factors. Psychomotor retardation and a left fronto-insular infarct associated with the MTHFR mutation together with diminished factor VII and low level of protein C was documented in the first patient. In the second patient, generalized epilepsy and a malacic area in the right nucleus lenticularis was associated with the MTHFR mutation and a low level of protein C. In the third patient, right hemiparesis and a left fronto-temporal porencephalic cyst were documented, together with the MTHFR mutation and hyperhomocysteinemia. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of infants with cerebral infarctions associated with the MTHFR mutation and of their related family members.

  20. Protostrongylid nematodes in caribou (Rangifer tarandus caribou and moose (Alces alces of Newfoundland

    Directory of Open Access Journals (Sweden)

    Murray W. Lankester

    1998-03-01

    Full Text Available Two species of protostrongylid nematodes with dorsal-spined, first-stage larvae, are present in caribou and moose of Newfoundland. Elaphostrongyius rangiferi Mitskevich, 1958, a parasite introduced from Scandinavia, causes periodic epizootics of a severe neurological disease in caribou. Sick animals exhibiting signs of cerebrospinal elaphostrongylosis (CSE were particularly noticeable in central Newfoundland each winter between 1981 and 1985. Those collected for examinarion were mostly male calves. The disease again became prominent in caribou on the Avalon Peninsula in the winters of 1996 and 1997; it may have spread to that isolated part of the province as recently as 1990. E. rangiferi was also found in moose but no cases of neurologic disease have been reported in this host. Parelapbostrongylus andersoni Prestwood, 1972, was found in caribou, both in central Newfoundland and on the Avalon Peninsula. Moose may also be infected. Of 1407 terrestrial gastropod intermediate hosts examined, 9 (0.6% contained infective, third-stage, protostrongylid larvae resembling those of E. rangiferi and P. andersoni which are indistinguishable. The small dark slug, Deroceras laeve, dominated gastropod collections and was the only species infected.

  1. 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.

  2. The Role of Family Environment in Depressive Symptoms among University Students: A Large Sample Survey in China

    OpenAIRE

    Yunmiao Yu; Xiuxian Yang; Yanjie Yang; Lu Chen; Xiaohui Qiu; Zhengxue Qiao; Jiawei Zhou; Hui Pan; Bo Ban; Xiongzhao Zhu; Jincai He; Yongqing Ding; Bing Bai

    2015-01-01

    Objective To explore the relationship between family environment and depressive symptoms and to evaluate the influence of hard and soft family environmental factors on depression levels in a large sample of university students in China. Methods A multi-stage stratified sampling procedure was used to select 6,000 participants. The response rate was 88.8%, with 5,329 students completing the Beck Depression Inventory (BDI) and the Family Environment Scale Chinese Version (FES-CV), which was adap...

  3. 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

  4. Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

    Directory of Open Access Journals (Sweden)

    Fajkus Jiří

    2010-07-01

    Full Text Available Abstract Background Mutations in the LDLR gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the LDLR gene. Methods DNA diagnostics of large genomic rearrangements was based on Multiple Ligation dependent Probe Amplification (MLPA. Subsequent analyses of deletion and duplication breakpoints were performed using long-range PCR, PCR, and DNA sequencing. Results In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. Eight different types of rearrangements were detected, from them 6 types were novel, not described so far. In all rearrangements, we characterized their exact extent and breakpoint sequences. Conclusions Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR between Alu elements is involved in 6 events, while a non-homologous end joining (NHEJ is implicated in 2 rearrangements. Our study thus describes for the first time NHEJ as a mechanism involved in genomic rearrangements in the LDLR gene.

  5. 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.

  6. Large scale in silico identification of MYB family genes from wheat expressed sequence tags.

    Science.gov (United States)

    Cai, Hongsheng; Tian, Shan; Dong, Hansong

    2012-10-01

    The MYB proteins constitute one of the largest transcription factor families in plants. Much research has been performed to determine their structures, functions, and evolution, especially in the model plants, Arabidopsis, and rice. However, this transcription factor family has been much less studied in wheat (Triticum aestivum), for which no genome sequence is yet available. Despite this, expressed sequence tags are an important resource that permits opportunities for large scale gene identification. In this study, a total of 218 sequences from wheat were identified and confirmed to be putative MYB proteins, including 1RMYB, R2R3-type MYB, 3RMYB, and 4RMYB types. A total of 36 R2R3-type MYB genes with complete open reading frames were obtained. The putative orthologs were assigned in rice and Arabidopsis based on the phylogenetic tree. Tissue-specific expression pattern analyses confirmed the predicted orthologs, and this meant that gene information could be inferred from the Arabidopsis genes. Moreover, the motifs flanking the MYB domain were analyzed using the MEME web server. The distribution of motifs among wheat MYB proteins was investigated and this facilitated subfamily classification.

  7. [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.

  8. Comparative Proteomics of Mouse Tears and Saliva: Evidence from Large Protein Families for Functional Adaptation

    Directory of Open Access Journals (Sweden)

    Robert C. Karn

    2015-09-01

    Full Text Available We produced a tear proteome of the genome mouse, C57BL/6, that contained 139 different protein identifications: 110 from a two-dimensional (2D gel with subsequent trypsin digestion, 19 from a one-dimensional (1D gel with subsequent trypsin digestion and ten from a 1D gel with subsequent Asp-N digestion. We compared this tear proteome with a C57BL/6 mouse saliva proteome produced previously. Sixteen of the 139 tear proteins are shared between the two proteomes, including six proteins that combat microbial growth. Among the 123 other tear proteins, were members of four large protein families that have no counterparts in humans: Androgen-binding proteins (ABPs with different members expressed in the two proteomes, Exocrine secreted peptides (ESPs expressed exclusively in the tear proteome, major urinary proteins (MUPs expressed in one or both proteomes and the mouse-specific Kallikreins (subfamily b KLKs expressed exclusively in the saliva proteome. All four families have members with suggested roles in mouse communication, which may influence some aspect of reproductive behavior. We discuss this in the context of functional adaptation involving tear and saliva proteins in the secretions of mouse lacrimal and salivary glands, respectively.

  9. The Expanding Family of Natural Anion Channelrhodopsins Reveals Large Variations in Kinetics, Conductance, and Spectral Sensitivity

    Science.gov (United States)

    Govorunova, Elena G.; Sineshchekov, Oleg A.; Rodarte, Elsa M.; Janz, Roger; Morelle, Olivier; Melkonian, Michael; Wong, Gane K.-S.; Spudich, John L.

    2017-01-01

    Natural anion channelrhodopsins (ACRs) discovered in the cryptophyte alga Guillardia theta generate large hyperpolarizing currents at membrane potentials above the Nernst equilibrium potential for Cl− and thus can be used as efficient inhibitory tools for optogenetics. We have identified and characterized new ACR homologs in different cryptophyte species, showing that all of them are anion-selective, and thus expanded this protein family to 20 functionally confirmed members. Sequence comparison of natural ACRs and engineered Cl−-conducting mutants of cation channelrhodopsins (CCRs) showed radical differences in their anion selectivity filters. In particular, the Glu90 residue in channelrhodopsin 2, which needed to be mutated to a neutral or alkaline residue to confer anion selectivity to CCRs, is nevertheless conserved in all of the ACRs identified. The new ACRs showed a large variation of the amplitude, kinetics, and spectral sensitivity of their photocurrents. A notable variant, designated “ZipACR”, is particularly promising for inhibitory optogenetics because of its combination of larger current amplitudes than those of previously reported ACRs and an unprecedentedly fast conductance cycle (current half-decay time 2–4 ms depending on voltage). ZipACR expressed in cultured mouse hippocampal neurons enabled precise photoinhibition of individual spikes in trains of up to 50 Hz frequency. PMID:28256618

  10. Family dinner and disordered eating behaviors in a large cohort of adolescents

    OpenAIRE

    Haines, Jess; Matthew W. Gillman; Rifas-Shiman, Sheryl; Field, Alison E.; Austin, S Bryn

    2010-01-01

    We aimed to examine longitudinal associations between family dinner and disordered eating behaviors among adolescents. We studied 7535 females and 5913 males, 9 to 14 years of age in 1996. We performed multivariable logistic regression to assess the associations of previous year family dinner with 1-year incidence of each of 3 outcomes: purging, binge eating, and frequent dieting. Compared to those who ate family dinner “never or some days,” female adolescents who ate family dinner at least m...

  11. Skewed distribution of hypothyroidism in the coastal communities of Newfoundland, Canada.

    Science.gov (United States)

    Sarkar, Atanu; Knight, John C; Babichuk, Nicole A; Mulay, Shree

    2015-10-01

    Several studies published in the recent past have shown that rising levels of thyroid disrupting chemicals (TDCs) in the environment affect thyroid function in humans. These TDCs are the anthropogenic organic compounds that enter the human body mostly by ingestion and may trigger autoimmune thyroiditis, the most common cause of hypothyroidism. The studies also show the presence of high levels of TDCs in marine animals; therefore, consumption of contaminated seafood might trigger hypothyroidism. So far, there is no readily available population-based data, showing the regional distribution of hypothyroidism cases. We collected administrative data from the Newfoundland and Labrador Centre for Health Information on hospitalizations with hypothyroidism (from 1998 to 2012) in 41 coastal communities of Newfoundland and found that mean hypothyroidism rates of west and south coasts were significantly higher than in the east coast (1.8 and 1.9 times respectively). A one-way analysis of variance was used to test for regional differences in rates. A significant between-group difference in the rate of hypothyroidism was found (F2,38 = 8.309; p = 0.001). The St. Lawrence River, its estuary and the Gulf of St. Lawrence are heavily polluted with TDCs from industries, their effluents, and urbanization in the Great Lakes Watershed and along the river. Environment Canada has already identified this river along with the Great Lakes Watershed as one of the top TDCs polluted water sources in the country. The west and south coasts are in contact with the Gulf of St. Lawrence. Local marine products are a regular diet of the coastal communities of Newfoundland. Based on these available evidence, we hypothesize the role of TDCs in the rise of hypothyroidism on the western and southern coasts. However, further study will be needed to establish any association between abnormally high rates of hypothyroidism and exposure to TDCs.

  12. 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.

  13. 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

    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...... fishery collapse. Harvesting strategies for northern cod should recognize the existence of genetic diversity between inshore and offshore components as well as among coastal components. (C) 2000 The Fisheries Society of the British Isles...

  14. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

    Science.gov (United States)

    Alessandri, Jean-Luc; Dagoneau, Nathalie; Laville, Jean-Marc; Baruteau, Julien; Hébert, Jean-Christophe; Cormier-Daire, Valérie

    2010-04-01

    We report here on a RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter syndrome. All children presented with acrocephaly and polysyndactyly. However, intrafamilial variability was observed with variable severity of craniosynostosis ranging from cloverleaf skull to predominant involvement of the metopic ridge. All children also presented with a combination of brachydactyly with agenesis of the middle phalanges, syndactyly, broad thumbs, and postaxial polydactyly (2/4) in the hands, and preaxial polydactyly (3) and syndactyly (4) in the toes. Mental development was normal in all four children but the eldest one presented with impaired motor development as a result of orthopedic complications. Brain imaging showed hydrocephalus in 2/4 and additional features included genu valgum (2/4), abnormal genitalia (3/4), corneal anomaly (2/4), umbilical hernia (1/4), severe cyphoscoliosis (1), patent ductus arteriosus (1/4), and accessory spleen (1). In contrast to previous reports, growth was below average except for one patient and the eldest one became moderately overweight with time. We conclude from the report of this large unique family with four affected children that Carpenter syndrome is a genetically homogenous but a clinically variable condition.

  15. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

    Science.gov (United States)

    Belet, Stefanie; Fieremans, Nathalie; Yuan, Xuan; Van Esch, Hilde; Verbeeck, Jelle; Ye, Zhaohui; Cheng, Linzhao; Brodsky, Brett R; Hu, Hao; Kalscheuer, Vera M; Brodsky, Robert A; Froyen, Guy

    2014-03-01

    The phosphatidylinositol glycan class A (PIGA) protein is a member of the glycosylphosphatidylinositol anchor pathway. Germline mutations in PIGA located at Xp22.2 are thought to be lethal in males. However, a nonsense mutation in the last coding exon was recently described in two brothers with multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) who survived through birth likely because of the hypomorphic nature of the truncated protein, but died in their first weeks of life. Here, we report on a frameshift mutation early in the PIGA cDNA (c.76dupT; p.Y26Lfs*3) that cosegregates with the disease in a large family diagnosed with a severe syndromic form of X-linked intellectual disability. Unexpectedly, CD59 surface expression suggested the production of a shorter PIGA protein with residual functionality. We provide evidence that the second methionine at position 37 may be used for the translation of a 36 amino acids shorter PIGA. Complementation assays confirmed that this shorter PIGA cDNA was able to partially rescue the surface expression of CD59 in a PIGA-null cell line. Taken together, our data strongly suggest that the early frameshift mutation in PIGA produces a truncated hypomorph, which is sufficient to rescue the lethality in males but not the MCAHS2-like phenotype.

  16. Patient perception and knowledge of acetaminophen in a large family medicine service.

    Science.gov (United States)

    Herndon, Christopher M; Dankenbring, Dawn M

    2014-06-01

    The use of acetaminophen is currently under increased scrutiny by the US Food and Drug Administration (FDA) due to the risk of intentional and more concerning, unintentional overdose-related hepatotoxicity. Acetaminophen is responsible for an estimated 48% of all acute liver failure diagnoses. The purpose of this study is to evaluate patient perception and knowledge of the safe use and potential toxicity of acetaminophen-containing products. The authors conducted a descriptive, 2-week study using a convenience sample from a large family medicine clinic waiting room. Survey questions assessed ability to identify acetaminophen, knowledge of the current recommended maximum daily dose, respondent acetaminophen use patterns, common adverse effects associated with acetaminophen, and respondent self-reported alcohol consumption. Acetaminophen safety information was provided to all persons regardless of participation in the study. Of the 102 patients who chose to participate, 79% recognized acetaminophen as a synonym of Tylenol, whereas only 9% identified APAP as a frequently used abbreviation. One third of respondents thought acetaminophen was synonymous with ibuprofen and naproxen. Approximately one fourth of patients correctly identified the then maximum recommended daily acetaminophen dose of 4 g. Seventy-eight percent of patients correctly identified hepatotoxicity as the most common serious adverse effect. We conclude that patient deficiencies in knowledge of acetaminophen recognition, dosing, and toxicity warrant public education by health professionals at all levels of interaction. Current initiatives are promising; however, further efforts are required.

  17. Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.

    Science.gov (United States)

    Cho, Ja Young; Cho, Dae-Yeon; Ahn, Sei Hyun; Choi, Su-Youn; Shin, Inkyung; Park, Hyun Gyu; Lee, Jong Won; Kim, Hee Jeong; Yu, Jong Han; Ko, Beom Seok; Ku, Bo Kyung; Son, Byung Ho

    2014-06-01

    We screened large genomic rearrangements of the BRCA1 and BRCA2 genes in Korean, familial breast cancer patients. Multiplex ligation-dependent probe amplification assay was used to identify BRCA1 and BRCA2 genomic rearrangements in 226 Korean familial breast cancer patients with risk factors for BRCA1 and BRCA2 mutations, who previously tested negative for point mutations in the two genes. We identified only one large deletion (c.4186-1593_4676-1465del) in BRCA1. No large rearrangements were found in BRCA2. Our result indicates that large genomic rearrangement in the BRCA1 and BRCA2 genes does not seem like a major determinant of breast cancer susceptibility in the Korean population. A large-scale study needs to validate our result in Korea.

  18. Effect of vaginal self-sampling on cervical cancer screening rates: a community-based study in Newfoundland.

    Science.gov (United States)

    Duke, Pauline; Godwin, Marshall; Ratnam, Samuel; Dawson, Lesa; Fontaine, Daniel; Lear, Adrian; Traverso-Yepez, Martha; Graham, Wendy; Ravalia, Mohamad; Mugford, Gerry; Pike, Andrea; Fortier, Jacqueline; Peach, Mandy

    2015-06-10

    Cervical cancer is highly preventable and treatable if detected early through regular screening. Women in the Canadian province of Newfoundland & Labrador have relatively low rates of cervical cancer screening, with rates of around 40 % between 2007 and 2009. Persistent infection with oncogenic human papillomavirus (HPV) is a necessary cause for the development of cervical cancer, and HPV testing, including self-sampling, has been suggested as an alternative method of cervical cancer screening that may alleviate some barriers to screening. Our objective was to determine whether offering self-collected HPV testing screening increased cervical cancer screening rates in rural communities. During the 2-year study, three community-based cohorts were assigned to receive either i) a cervical cancer education campaign with the option of HPV testing; ii) an educational campaign alone; iii) or no intervention. Self-collection kits were offered to eligible women at family medicine clinics and community centres, and participants were surveyed to determine their acceptance of the HPV self-collection kit. Paired proportions testing for before-after studies was used to determine differences in screening rates from baseline, and Chi Square analysis of three dimensional 2 × 2 × 2 tables compared the change between communities. Cervical cancer screening increased by 15.2 % (p cancer screening rate in a rural NL community. Women who completed self-collection had generally positive feelings about the experience. Offering HPV self-collection may increase screening compliance, particularly among women who do not present for routine Pap smears.

  19. 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

  20. Familiality of Co-existing ADHD and Tic Disorders: Evidence from a Large Sibling Study

    Science.gov (United States)

    Roessner, Veit; Banaschewski, Tobias; Becker, Andreas; Buse, Judith; Wanderer, Sina; Buitelaar, Jan K.; Sergeant, Joseph A.; Sonuga-Barke, Edmund J.; Gill, Michael; Manor, Iris; Miranda, Ana; Mulas, Fernando; Oades, Robert D.; Roeyers, Herbert; Steinhausen, Hans-Christoph; Faraone, Steven V.; Asherson, Philip; Rothenberger, Aribert

    2016-01-01

    Background: 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 any case

  1. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.

    Science.gov (United States)

    Malmgren, B; Lindskog, S; Elgadi, A; Norgren, S

    2004-04-01

    Dentinogenesis imperfecta (DI) type II, an inherited disorder affecting dentin, has been linked to mutations in the dentin sialophosphoprotein ( DSPP) gene on chromosome 4q21. The gene product is cleaved into two dentin-specific matrix proteins, dentin sialoprotein (DSP) and dentin phosphoprotein. The aim of this investigation was to study genotypes and phenotypes in two affected families with special reference to clinical, radiographic, and histopathologic manifestations. Seven affected members of Family A and five of Family B were documented clinically and radiographically; 14 and 10 teeth, respectively, were available for histopathologic investigation and prepared for ground sections, which were assessed semiquantitatively for dysplastic manifestations in the dentin according to the scoring system, dysplastic dentin score (DDS). Venous blood samples were collected from six affected and ten unaffected members of Family A, and from eight affected and six unaffected members of Family B. Genomic DNA was extracted and used for sequence analyses. The two families presented with different missense mutations. An Arg68Trp missense mutation in the DSP part of the gene was revealed in all six analyzed affected individuals in Family A. This mutation was not present in any of the ten healthy members. In Family B, an Ala15Val missense mutation involving the last residue of the signal peptide was found in all eight affected but in none of the six healthy members. The clinical and radiographic disturbances and DDS were more severe in Family B. The data indicate the presence of a genotype-phenotype correlation in DI type II.

  2. A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome.

    Science.gov (United States)

    Cong, Peikuan; Ye, Yinghui; Wang, Yue; Lu, Lingping; Yong, Jing; Yu, Ping; Joseph, Kimani Kagunda; Jin, Fan; Qi, Ming

    2012-06-01

    Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder with a normal 46, XY karyotype caused by abnormality of the androgen receptor (AR) gene. One Chinese family consisting of the proband and 5 other members with complete androgen insensitivity syndrome (CAIS) was investigated. Mutation analysis by DNA sequencing on all 8 exons and flanking intron regions of the AR gene revealed a unique large deletion/insertion mutation in the family. A 287 bp deletion and 77 bp insertion (c.933_1219delins77) mutation at codon 312 resulted in a frameshift which caused a premature stop (p.Phe312Aspfs*7) of polypeptide formation. The proband's mother and grandmother were heterozygous for the mutant allele. The proband's father, uncle and grandfather have the normal allele. From the pedigree constructed from mutational analysis of the family, it is revealed that the probably pathogenic mutation comes from the maternal side.

  3. Physician recruitment in rural Canada: programs in New Brunswick, Newfoundland, and Nova Scotia.

    Science.gov (United States)

    Reamy, J

    1994-01-01

    This paper examines programs used in the Atlantic provinces of New Brunswick, Newfoundland, and Nova Scotia to recruit and retain physicians in rural areas. The provinces have many similarities but have unique characteristics that have shaped recruitment methods. The total number of physicians in each province has grown at a faster rate than the population. Each has problems attracting physicians to underserved areas, although the magnitude of the problems vary. The data for this paper were gathered from documents available from various agencies in each province and a series of personal interviews conducted in the spring of 1993. The provinces have chosen different avenues in attempting to solve the maldistribution of physician resources, ranging from regulatory methods in New Brunswick to moves in Newfoundland to encourage graduates of the province's medical school to locate in the rural areas and lessen the dependence on foreign medical graduates. Nova Scotia, with fewer areas needing physicians, has been able to focus its efforts on selected locations. Reviewing the methods used in the three provinces provides an insight into the attempts to solve the shortage of physicians in rural areas.

  4. Family History and Stroke Risk in China: Evidence from a Large Cohort Study.

    Science.gov (United States)

    Tian, Tian; Jin, Guangfu; Yu, Canqing; Lv, Jun; Guo, Yu; Bian, Zheng; Yang, Ling; Chen, Yiping; Shen, Hongbing; Chen, Zhengming; Hu, Zhibin; Li, Liming

    2017-05-01

    Large cohort studies on relationship between family history of stroke (FHS) and stroke risk are lacking in Asians. We aimed to systematically evaluate the association of FHS with stroke risk in a cohort study of 0.5 million Chinese adults. Information about FHS was self-reported. The median follow-up time was 7.16 years and the end-point of follow-up was incident stroke, which was entered directly into the China Kadoorie Biobank system. Multivariate analyses were performed with Cox proportional hazards model, and interaction analyses were carried using likelihood-ratio tests. Compared with participants without FHS, the hazard ratio (HR) (95% confidence interval, CI) of stroke for participants with FHS was 1.50 (1.46-1.55). The HRs increased with the number of first degree relatives with stroke (HRs=1.41, 1.98 and 2.47 for 1, 2 and ≥3 relatives, respectively, Ptrend history and parental history, respectively. Similar associations with offspring stroke risk were observed between paternal history (HR=1.48, 95% CI: 1.43-1.54) and maternal history (HR=1.49, 95% CI: 1.43-1.55). Moreover, significant interactions were detected between FHS and health-risk behaviors (tobacco smoking and alcohol drinking). FHS is an independent risk factor for stroke in Chinese. The more first degree relatives are affected by stroke, the higher are individuals' risk of suffering from stroke. The management of the health-risk behaviors for reducing stroke should be highlighted, especially for the individuals with FHS.

  5. 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 no

  6. From "New Genetics" to Everyday Knowledge: Ideas about How Genetic Diseases Are Transmitted in Two Large Brazilian Families

    Science.gov (United States)

    Santos, Silvana; Bizzo, Nelio

    2005-01-01

    This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected…

  7. 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

  8. A Cold Case and a Warm Conversation: A Discourse Analysis of Focus Groups on Large-scale DNA Familial Searching

    NARCIS (Netherlands)

    Klarenbeek, Annette; Renes, Reint Jan

    2013-01-01

    In this case study, we want to gain insight into how residents of three municipalities communicate about the new murder scenario of the cold case of Marianne Vaatstra and the possibility of a large-scale DNA familial searching. We investigate how stakeholders shape their arguments in conversation wi

  9. A Cold Case and a Warm Conversation. : A Discourse Analysis of Focus Groups on Large-scale DNA Familial Searching.

    NARCIS (Netherlands)

    Klarenbeek, Annette; Renes, Reint-Jan

    2013-01-01

    In this case study, we want to gain insights into how residents of three municipalities communicate about the new murder scenario of the cold case of Marianne Vaatstra and the possibility of a large-scale DNA familial searching. We investigate how stakeholders shape their arguments in conversation w

  10. 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.

  11. Family dinner and disordered eating behaviors in a large cohort of adolescents.

    Science.gov (United States)

    Haines, Jess; Gillman, Matthew W; Rifas-Shiman, Sheryl; Field, Alison E; Austin, S Bryn

    2010-01-01

    We aimed to examine longitudinal associations between family dinner and disordered eating behaviors among adolescents. We studied 7535 females and 5913 males, 9 to 14 years of age in 1996. We performed multivariable logistic regression to assess the associations of previous year family dinner with 1-year incidence of each of 3 outcomes: purging, binge eating, and frequent dieting. Compared to those who ate family dinner "never or some days," female adolescents who ate family dinner at least most days were less likely to initiate purging, binge eating, and frequent dieting. Estimates of association among males were similar in direction and magnitude, although lower frequency of the outcomes resulted in less precise estimates and fewer statistically significant results.

  12. Cascade testing for carrier status in cystic fibrosis in a large family.

    Science.gov (United States)

    Turner, G; Meagher, W; Willis, C; Colley, P

    1993-08-02

    The offer to determine carrier status for cystic fibrosis (CF) was made to the 230 descendants of a couple who were presumed to carry the delta F508 mutation. "Cascade testing" was employed, in which the mutation is followed from the oldest generation down. Compliance was over 75% and family members were relieved of the anxiety engendered by uncertainty. In one couple considering having a family, both partners were found to be carriers.

  13. On family-based genome-wide association studies with large pedigrees: observations and recommendations

    OpenAIRE

    Fardo, David W.; Zhang, Xue; Ding, Lili; He, Hua; Kurowski, Brad; Alexander, Eileen S.; Mersha, Tesfaye B.; Pilipenko, Valentina; Kottyan, Leah; Nandakumar, Kannabiran; Martin, Lisa

    2014-01-01

    Family based association studies are employed less often than case-control designs in the search for disease-predisposing genes. The optimal statistical genetic approach for complex pedigrees is unclear when evaluating both common and rare variants. We examined the empirical power and type I error rates of 2 common approaches, the measured genotype approach and family-based association testing, through simulations from a set of multigenerational pedigrees. Overall, these results suggest that ...

  14. History of Cesarean Section Associated with Childhood Onset of T1DM in Newfoundland and Labrador, Canada

    Directory of Open Access Journals (Sweden)

    J. Phillips

    2012-01-01

    Full Text Available Objectives. Newfoundland and Labrador (NL has one of the highest incidences of Type 1 diabetes mellitus (T1DM worldwide. Rates of T1DM are increasing and the search for environmental factors that may be contributing to this increase is continuing. Methods. This was a population-based case control design involving the linkage of data from a diabetes database with live birth registration data. 266 children aged 0–15 years with T1DM were compared to age- and gender-matched controls. Chi-square analysis and multivariate conditional logistic regression were carried out to assess maternal and infant factors (including maternal age, marital status, education, T1DM, hypertension, birth order, delivery method, gestational age, size-for-gestational-age, and birth weight. Results. Cases of T1DM were more likely to be large-for-gestational-age (P=0.024 and delivered by C-section (P=0.009 as compared to controls. C-section delivery was associated with increased risk of T1DM (HR 1.41, P=0.015 when birth weight and gestational age were included in the model, but not when size-for-gestational-age was included (HR 1.3, P=0.076. Conclusions. Birth by C-section was found to be a risk factor for the development of T1DM in a region with high rates of T1DM and birth by C-section. These findings may have an impact on health practice, health care planning, and future research.

  15. 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

  16. Estimating successive cancer risks in Lynch Syndrome families using a progressive three-state model.

    Science.gov (United States)

    Choi, Yun-Hee; Briollais, Laurent; Green, Jane; Parfrey, Patrick; Kopciuk, Karen

    2014-02-20

    Lynch Syndrome (LS) families harbor mutated mismatch repair genes,which predispose them to specific types of cancer. Because individuals within LS families can experience multiple cancers over their lifetime, we developed a progressive three-state model to estimate the disease risk from a healthy (state 0) to a first cancer (state 1) and then to a second cancer (state 2). Ascertainment correction of the likelihood was made to adjust for complex sampling designs with carrier probabilities for family members with missing genotype information estimated using their family's observed genotype and phenotype information in a one-step expectation-maximization algorithm. A sandwich variance estimator was employed to overcome possible model misspecification. The main objective of this paper is to estimate the disease risk (penetrance) for age at a second cancer after someone has experienced a first cancer that is also associated with a mutated gene. Simulation study results indicate that our approach generally provides unbiased risk estimates and low root mean squared errors across different family study designs, proportions of missing genotypes, and risk heterogeneities. An application to 12 large LS families from Newfoundland demonstrates that the risk for a second cancer was substantial and that the age at a first colorectal cancer significantly impacted the age at any LS subsequent cancer. This study provides new insights for developing more effective management of mutation carriers in LS families by providing more accurate multiple cancer risk estimates.

  17. 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.

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

    Science.gov (United States)

    Strong, Justin S; Leroux, Shawn J

    2014-01-01

    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.

  19. BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland.

    Science.gov (United States)

    Ratajska, Magdalena; Brozek, Izabela; Senkus-Konefka, Elzbieta; Jassem, Jacek; Stepnowska, Magdalena; Palomba, Grazia; Pisano, Marina; Casula, Milena; Palmieri, Giuseppe; Borg, Ake; Limon, Janusz

    2008-01-01

    Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two other recurrent mutations were BRCA1 185delAG (n=3) and 3819del5 (n=4), together accounting for 16% of the 43 mutation-positive cases. We also found three novel mutations (BRCA1 2991del5, BRCA2 6238ins2del21 and 8876delC) which combined with findings from our earlier study of 60 Northern Polish families. Moreover, screening of 43 BRCA1/2 negative families for the presence of large rearrangements by multiplex ligation-dependent probe amplification (MLPA) resulted in the finding of two additional BRCA1 mutations: a deletion of exons 1A, 1B and 2, and a deletion of exons 17-19, both present in single families. We conclude that the Polish population has a diverse mutation spectrum influenced by strong founder effects. However, families with strong breast/ovarian cancer history who are negative for these common mutations should be offered a complete BRCA gene screening, including MLPA analysis.

  20. Terrestrial Responses to Holocene Climatic Change on the Eastern Seaboard of Newfoundland

    Science.gov (United States)

    Hughes, P.; Daley, T.; Blundell, A.; Charman, D.; Barber, K.; Street-Perrott, A.; Loader, N.; Odoni, N.; Chambers, F.

    2006-12-01

    Land-ocean-atmosphere interactions in the North Atlantic region are a high priority research issue because of their key relationship with ocean thermohaline circulation (THC) and patterns of regional and global climatic change. Whilst we are beginning to understand the nature and magnitude of past changes in ocean circulation in the Atlantic region, there is a rather poor understanding of the terrestrial responses to these events. The Atlantic provinces of Canada are located in a key area for this research, lying at the boundary between `polar' and `Atlantic' water masses. The so-called `8.2ka Event' is the best known example of variability in ocean circulation and climate, forced by melt water flows from the Laurentide ice sheet. It is widely thought, therefore, that the marine sediments of the Laurentian Fan region of the North Atlantic Ocean should closely reflect discharge of meltwater and ice rafting during the major climatic events of the early-Holocene (Keigwin et al., 2005). Likewise, the on-shore area of this same region, adjacent to the meltwater transit routes, should also show a strong response to meltwater and ice rafting events. We report research that shows that the plateau bogs of Newfoundland hold sensitive records of palaeohydrological change that can be related to palaeoclimatic events. Multi-proxy reconstructions of past bog surface wetness reveal a distinctive pool phase at 8.2 ka and on 13 further occasions through the Holocene, culminating with the Little Ice Age. Few sphagnum-dominated ombrotrophic communities have been recorded on the circum-Atlantic seaboards at 8.2ka. The existence of these assemblages in Newfoundland presents the opportunity to derive oxygen isotopic reconstructions across the '8.2 ka Event' for a terrestrial genus that has an intimate coupling with the atmosphere. Here we report genus-specific analyses of delta 18O from an ombrotrophic peat bog. The results show that the `8.2 ka Event' in Newfoundland was short (ca. 100

  1. Constraining lithosphere deformation mode evolution for the Iberia-Newfoundland rifted margins

    Science.gov (United States)

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

    2015-04-01

    The deformation of lithosphere and asthenosphere and its evolution during continental rifting leading to breakup and seafloor spreading initiation is poorly understood. The resulting margin architecture and OCT structure is complex and diverse, and observations at magma poor margins includes hyper-extended continental crust and lithosphere, detachments faults, exhumed mantle, continental slivers and scattered embryonic oceanic crust. A coupled kinematic-dynamic model of lithosphere and asthenosphere deformation has been used to investigate the sequence of lithosphere deformation modes for 2 conjugate margin profiles for the Iberia-Newfoundland rifted margins. We use the observed water-loaded subsidence and crustal thickness, together with subsidence history and the age of melt generation, to test and constrain lithosphere and asthenosphere deformation models. A sequence of lithosphere deformation modes is represented by a succession of flow-fields, which are generated by a 2D finite element viscous flow model (FE-Margin), and is used to advect lithosphere and asthenosphere temperature and material. FE-Margin is kinematically driven by divergent deformation in the upper 15-20 km of the lithosphere inducing passive upwelling below. Buoyancy enhanced upwelling (e.g. Braun et al. 2000) is also kinematically included. The methodology of Katz et al., 2003 is used to predict melt generation by decompressional melting. The magnitude of extension used in the modelling is consistent with that proposed by Sutra et al (2013). The best fit calibrated models of lithosphere deformation evolution for the Iberia-Newfoundland conjugate margins require (i) an initial broad region of lithosphere deformation and passive upwelling, (ii) lateral migration of deformation, (iii) an increase in extension rate with time, (iv) focussing of deformation and (v) buoyancy induced upwelling. The preferred calibrated models predict faster extension rates and earlier continental crustal rupture and

  2. Terra Nova sailaway marks the beginning of the second stage in Newfoundland offshore development

    Energy Technology Data Exchange (ETDEWEB)

    Anon.

    2001-08-01

    The second stage of offshore oil development in Newfoundland and Labrador began in August 2001 with the launch of the Terra Nova floating production, storage and off loading (FPSO) vessel destined for the mooring site in the Terra Nova oilfield. The field was discovered in 1984 in the Jeanne d'Arc Basin about 350 km southeast of St. John's Newfoundland. It is located about 35 km from the Hibernia oil field and consists of three fault blocks. Total recoverable reserves are estimated at 370 million barrels from the Graben and East Flank fault block while the Far East fault block has the potential to add 100 million additional barrels. Production of first oil from the Terra Nova project is expected to start by the end of 2001, following final commissioning and hookup of the underwater system at its final destination. This will involve the connection of the spider buoy that attaches the vessel's turret to the underwater templates. Risers will run from the turret to the 24 wells that are located in huge glory holes that protect the wellheads from icebergs that scrape the ocean floor of the frigid North Atlantic waters. When fully loaded, the 292 metre long vessel will weigh in at 153,000 tons. Shuttle tankers will then collect the crude oil from the FPSO vessel and ship it to the Whiffen Head, Newfoundland transshipment facility. The field is expected to produce for about 15 years, but the additional reserves to be found in the Far East block may prolong the life of the field by 2 years. The largest shareholder in the project is Petro-Canada with a 33.99 per cent share. Other companies in the development include Mobil Oil, Husky Oil, Norsk Hydro, Murphy Oil, Mosbacher Operating and Chevron Canada Resources. The project was developed through the original concept of the Terra Nova Alliance in which various companies assumed responsibilities for different aspects of the project from reservoir engineering, downhole work, flowlines, process modules, the FPSO

  3. Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

    Science.gov (United States)

    Doucette, Lance; Green, Jane; Black, Coleman; Schwartzentruber, Jeremy; Johnson, Gordon J; Galutira, Dante; Young, Terry-Lynn

    2013-09-01

    Achromatopsia (ACHM) is a severe retinal disorder characterized by an inability to distinguish colors, impaired visual acuity, photophobia and nystagmus. This rare autosomal recessive disorder of the cone photoreceptors is best known for its increased frequency due to founder effect in the Pingelapese population of the Pacific islands. Sixteen patients from Newfoundland, Canada were sequenced for mutations in the four known achromatopsia genes CNGA3, CNGB3, GNAT2, and PDE6C. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). Haplotype reconstruction showed that recurrent mutations p.T383fsX and p.L527R were due to a founder effect. Aggregate data from exome sequencing, segregation analysis and archived medical records support a rediagnosis of Jalili syndrome in affected siblings (n = 4) from Family 0094, which to our knowledge is the first family identified with Jalili Syndrome in North America.

  4. AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD IN A LARGE IRANIAN FAMILY

    Directory of Open Access Journals (Sweden)

    D.D. Farhud

    1999-08-01

    Full Text Available Study of a family with autosomal dominant polycystic kidney diseases (ADPKD in five generations, including 96 healthy and 47 affected individuals, has been carried out in Tehran. Investigation on individuals, including final diagnoses by clinical findings, sonography, radiography and laboratory results, have Lead to the completion of genealogical chart of the family. The affected individuals have reached a stage of the disease with confirmed occurrence of renal damages. Uncertain diagnoses, unconfirmed statements of the family members about probable presence of the disease in some other members, and also the death of some members by other reasons were not possible to be registered in the chart. Up to now the chart has been the largest and the most complete in Iran, compared with the ones reported in the available literature.

  5. Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomal dominant genetic disorder

    Institute of Scientific and Technical Information of China (English)

    Chun-Lian Wang; Xiao-Wei Liu; Fang-Gen Lu; Xiao-Ping Wu; Chun-Hui Ouyang; Dong-Ye Yang

    2006-01-01

    AIM: To describe the pattern of inheritance and confirm the diagnosdc criteria of primary shunt hyperbilirubinaemia (PSH).METHODS: Forty members of a family pedigree across four generations were included in this study. All family members were interviewed and investigated by physical examination, hematology and liver function test and the pattern of inheritance was analyzed.RESULTS: Nine of the forty family members suffered primary shunt hyperbilirubinaemia. The mature erythrocytes of the propositus were irregular in shape and size.The pedigree showed transmission of the trait through four generations with equal distribution in male and female. No individual with a primary shunt hyperbilirubinaemia was born to unaffected parents. The penetrance was complete in adult.CONCLUSION: The pattern of inheritance is autosomal dominant. The abnormality of erythrocytes and decrease in white blood cell could be supplemented in the diagnosis of PSH. The PSH is a genetic disorder and could by renamed as hereditary shunt hyperbilirubinaemia.

  6. 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.

  7. 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.

  8. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.

    Science.gov (United States)

    Dollfus, Hélène; Biswas, Partha; Kumaramanickavel, Govindsamy; Stoetzel, Corinne; Quillet, Renaud; Biswas, Jyotirmay; Lajeunie, Elisabeth; Renier, Dominique; Perrin-Schmitt, Fabienne

    2002-05-01

    Saethre-Chotzen syndrome is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Variable expressivity is a well-known phenomenon in this disorder. A large Indian family has been recently identified as carrying a nonsense TWIST mutation (Q28 X) in 17 members, of whom 16 were examined in detail. Only 4 (25%) of the patients showed patent craniostenosis, namely, oxycephaly. The penetrance of craniosynostosis in this family is lower than previously reported in the literature. Fifteen patients (93%) had moderate to severe ptosis. Minor limb and external ear abnormalities were present in most patients. Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. The clinical analysis of this large family clearly illustrates the significant variable expressivity, probably related to haploinsufficiency because of the TWIST mutation. This phenotypic variability remains unclear but could be the result of modifier genes and/or genetic background effect, as noticed previously in the transgenic twist-null heterozygous mice.

  9. 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.

  10. Positive Darwinian selection in the singularly large taste receptor gene family of an ‘ancient’ fish, Latimeria chalumnae

    OpenAIRE

    Adnan S. Syed; Korsching, Sigrun I.

    2014-01-01

    Background Chemical senses are one of the foremost means by which organisms make sense of their environment, among them the olfactory and gustatory sense of vertebrates and arthropods. Both senses use large repertoires of receptors to achieve perception of complex chemosensory stimuli. High evolutionary dynamics of some olfactory and gustatory receptor gene families result in considerable variance of chemosensory perception between species. Interestingly, both ora/v1r genes and the closely re...

  11. Delivering a very brief psychoeducational program to cancer patients and family members in a large group format.

    Science.gov (United States)

    Cunningham, A J; Edmonds, C V; Williams, D

    1999-01-01

    It is well established that brief psychoeducational programs for cancer patients will significantly improve mean quality of life. As this kind of adjunctive treatment becomes integrated into general cancer management, it will be necessary to devise cost-effective and efficacious programs that can be offered to relatively large numbers of patients. We have developed a very brief 4-session program that provides this service to 40-80 patients and family members per month (and seems capable of serving much larger numbers, depending on the capacity of the facility in which they assemble). Patients meet in a hospital auditorium for a large group, lecture-style program that offers training in basic coping skills: stress management, relaxation training, thought monitoring and changing, mental imagery and goal setting. Over the first year we have treated 363 patients and 150 family members. Improvements were assessed by changes in the POMS-Short Form, and both patients and family members were found to improve significantly over the course of the program. While this is not a randomized comparison, it suggests that the benefits gained from a large group in a classroom are not substantially less than the improvements that have been documented in the usual small group format, where more interactive discussions are possible.

  12. Leukemia-associated Rho guanine nucleotide exchange factor (LARG) links heterotrimeric G proteins of the G(12) family to Rho.

    Science.gov (United States)

    Fukuhara, S; Chikumi, H; Gutkind, J S

    2000-11-24

    A putative guanine nucleotide exchange factor (GEF), termed leukemia-associated RhoGEF (LARG), was recently identified upon fusion to the coding sequence of the MLL gene in acute myeloid leukemia. Although the function of LARG is still unknown, it exhibits a number of structural domains suggestive of a role in signal transduction, including a PDZ domain, a LH/RGS domain, and a Dbl homology/pleckstrin homology domain. Here, we show that LARG can activate Rho in vivo. Furthermore, we present evidence that LARG is an integral component of a novel biochemical route whereby G protein-coupled receptors (GPCRs) and heterotrimeric G proteins of the G alpha(12) family stimulate Rho-dependent signaling pathways.

  13. Positive Darwinian selection in the singularly large taste receptor gene family of an 'ancient' fish, Latimeria chalumnae.

    Science.gov (United States)

    Syed, Adnan S; Korsching, Sigrun I

    2014-08-05

    Chemical senses are one of the foremost means by which organisms make sense of their environment, among them the olfactory and gustatory sense of vertebrates and arthropods. Both senses use large repertoires of receptors to achieve perception of complex chemosensory stimuli. High evolutionary dynamics of some olfactory and gustatory receptor gene families result in considerable variance of chemosensory perception between species. Interestingly, both ora/v1r genes and the closely related t2r genes constitute small and rather conserved families in teleost fish, but show rapid evolution and large species differences in tetrapods. To understand this transition, chemosensory gene repertoires of earlier diverging members of the tetrapod lineage, i.e. lobe-finned fish such as Latimeria would be of high interest. We report here the complete T2R repertoire of Latimeria chalumnae, using thorough data mining and extensive phylogenetic analysis. Eighty t2r genes were identified, by far the largest family reported for any species so far. The genomic neighborhood of t2r genes is enriched in repeat elements, which may have facilitated the extensive gene duplication events resulting in such a large family. Examination of non-synonymous vs. synonymous substitution rates (dN/dS) suggests pronounced positive Darwinian selection in Latimeria T2Rs, conceivably ensuring efficient neo-functionalization of newly born t2r genes. Notably, both traits, positive selection and enrichment of repeat elements in the genomic neighborhood, are absent in the twenty v1r genes of Latimeria. Sequence divergence in Latimeria T2Rs and V1Rs is high, reminescent of the corresponding teleost families. Some conserved sequence motifs of Latimeria T2Rs and V1Rs are shared with the respective teleost but not tetrapod genes, consistent with a potential role of such motifs in detection of aquatic chemosensory stimuli. The singularly large T2R repertoire of Latimeria may have been generated by facilitating local

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

    Directory of Open Access Journals (Sweden)

    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.

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

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    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.

  16. Asymmetry of the information and the knowledge between owners and workers in large family companies, as the determinant of their success

    OpenAIRE

    Ireneusz Maj

    2015-01-01

    In the majority economic areas of the world, family businesses are the overwhelming majority, it is certain in the case of small and medium-sized busi-nesses. Large family companies – in opposition to common opinion – are not the economy margin. It is other way round, they are not directly identifiable as a family companies. Family companies often reached global success in just decades.

  17. Low plastic ingestion rate in Atlantic cod (Gadus morhua) from Newfoundland destined for human consumption collected through citizen science methods.

    Science.gov (United States)

    Liboiron, Max; Liboiron, France; Wells, Emily; Richárd, Natalie; Zahara, Alexander; Mather, Charles; Bradshaw, Hillary; Murichi, Judyannet

    2016-12-15

    Marine microplastics are a contaminant of concern because their small size allows ingestion by a wide range of marine life. Using citizen science during the Newfoundland recreational cod fishery, we sampled 205 Atlantic cod (Gadus morhua) destined for human consumption and found that 5 had eaten plastic, an ingestion prevalence rate of 2.4%. This ingestion rate for Atlantic cod is the second lowest recorded rate in the reviewed published literature (the lowest is 1.4%), and the lowest for any fish in the North Atlantic. This is the first report for plastic ingestion in fish in Newfoundland, Canada, a province dependent on fish for sustenance and livelihoods. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. Impact of Body Mass Index on Short-Term Outcomes in Patients Undergoing Percutaneous Coronary Intervention in Newfoundland and Labrador, Canada

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    Anne B. Gregory

    2016-01-01

    Full Text Available Background and Aim. Obesity (BMI ≥ 30 kg/m2 is associated with advanced cardiovascular disease requiring procedures such as percutaneous coronary intervention (PCI. Studies report better outcomes in obese patients having these procedures but results are conflicting or inconsistent. Newfoundland and Labrador (NL has the highest rate of obesity in Canada. The aim of the study was to examine the relationship between BMI and vascular and nonvascular complications in patients undergoing PCI in NL. Methods. We studied 6473 patients identified in the APPROACH-NL database who underwent PCI from May 2006 to December 2013. BMI categories included normal, 18.5 ≤ BMI < 25.0 (n=1073; overweight, 25.0 ≤ BMI < 30 (n=2608; and obese, BMI ≥ 30.0 (n=2792. Results. Patients with obesity were younger and had a higher incidence of diabetes, hypertension, and family history of cardiac disease. Obese patients experienced less vascular complications (normal, overweight, and obese: 8.2%, 7.2%, and 5.3%, p=0.001. No significant differences were observed for in-lab (4.0%, 3.3%, and 3.1%, p=0.386 or postprocedural (1.0%, 0.8%, and 0.9%, p=0.725 nonvascular complications. After adjusting for covariates, BMI was not a significant factor associated with adverse outcomes. Conclusion. Overweight and obesity were not independent correlates of short-term vascular and nonvascular complications among patients undergoing PCI.

  19. A coastal foodscape: examining the relationship between changing fisheries and community food security on the west coast of Newfoundland

    OpenAIRE

    2014-01-01

    Fisheries make vital contributions to food security and food security is an important part of fisheries governance. However, there are relatively few in-depth studies examining the consequences of collapsed and changing fisheries for the food security of coastal communities. In this case study I use the concept of the coastal foodscape to look at the relationship between changing fisheries and community food security in the Bonne Bay region on the west coast of Newfoundland. I examine the soc...

  20. Two new species and new provincial records of aleocharine rove beetles from Newfoundland and Labrador, Canada (Coleoptera, Staphylinidae, Aleocharinae).

    Science.gov (United States)

    Klimaszewski, Jan; Langor, David W; Bourdon, Caroline; Gilbert, Amélie; Labrecque, Myriam

    2016-01-01

    Two new species, Atheta pseudovestita Klimaszewski & Langor, sp. n., Silusa prettyae Klimaszewski & Langor, sp. n., are described, and 16 new provincial records, including one new country record, of aleocharine beetles are presented for the province of Newfoundland and Labrador. Diagnostics, images of habitus and genital structures, distribution, bionomics information and new locality data are provided for the newly recorded species. A new checklist with 189 species of aleocharines recorded from the province is presented.

  1. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

    Science.gov (United States)

    Marduel, Marie; Ouguerram, Khadija; Serre, Valérie; Bonnefont-Rousselot, Dominique; Marques-Pinheiro, Alice; Berge, Knut Erik; Devillers, Martine; Luc, Gérald; Lecerf, Jean-Michel; Tosolini, Laurent; Erlich, Danièle; Peloso, Gina M.; Stitziel, Nathan; Nitchké, Patrick; Jaïs, Jean-Philippe; Abifadel, Marianne; Kathiresan, Sekar; Leren, Trond Paul; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde

    2013-01-01

    Apo E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal Dominant Hypercholesterolemia (ADH), due to mutations in the LDLR, APOB or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to high levels of low-density lipoproteins (LDL). We now report an exceptionally large family including 14 members with ADH. Through genome wide mapping, analysis of regional/functional candidate genes and whole exome sequencing, we identified a mutation in the APOE gene, p.Leu167del previously reported associated with sea-blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha-helix in the binding domain; (2) a decreased apo E level in LDL; and (3) a decreased catabolism of LDL. Our results show that mutations in the APOE gene can be associated with bona fide ADH. PMID:22949395

  2. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

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    D'Urso Michele

    2007-04-01

    Full Text Available Abstract Background The association between premature ovarian failure (POF and the FMR1 repeat number (41> CGGnFMR1 alleles. Case presentation We describe the coexistence in a large Italian kindred of Fragile X syndrome and familial POF in females with ovarian dysfunctions who carried normal or expanded FMR1 alleles. Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61–200, of which two were also affected by POF. However a young woman, who presented a severe ovarian failure with early onset, carried normal FMR1 alleles ( Conclusion Our case study represents a helpful observation and will provide familial cases with heterogeneous etiology that could be further studied when candidate genes in addition to the FMR1 premutation will be available.

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

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    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.

  4. Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

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    Vanisha Mistry

    Full Text Available Coeliac disease (CeD is a highly heritable common autoimmune disease involving chronic small intestinal inflammation in response to dietary wheat. The human leukocyte antigen (HLA region, and 40 newer regions identified by genome wide association studies (GWAS and dense fine mapping, account for ∼40% of the disease heritability. We hypothesized that in pedigrees with multiple individuals with CeD rare [minor allele frequency (MAF <0.5%] mutations of larger effect size (odds ratios of ∼2-5 might exist. We sequenced the exomes of 75 coeliac individuals of European ancestry from 55 multiply affected families. We selected interesting variants and genes for further follow up using a combination of: an assessment of shared variants between related subjects, a model-free linkage test, and gene burden tests for multiple, potentially causal, variants. We next performed highly multiplexed amplicon resequencing of all RefSeq exons from 24 candidate genes selected on the basis of the exome sequencing data in 2,248 unrelated coeliac cases and 2,230 controls. 1,335 variants with a 99.9% genotyping call rate were observed in 4,478 samples, of which 939 were present in coding regions of 24 genes (Ti/Tv 2.99. 91.7% of coding variants were rare (MAF <0.5% and 60% were novel. Gene burden tests performed on rare functional variants identified no significant associations (p<1×10(-3 in the resequenced candidate genes. Our strategy of sequencing multiply affected families with deep follow up of candidate genes has not identified any new CeD risk mutations.

  5. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

    NARCIS (Netherlands)

    Foncke, E M J; Gerrits, M C F; van Ruissen, F; Baas, F; Hedrich, K; Tijssen, C C; Klein, C; Tijssen, M A J

    2006-01-01

    We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of

  6. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

    NARCIS (Netherlands)

    Foncke, E M J; Gerrits, M C F; van Ruissen, F; Baas, F; Hedrich, K; Tijssen, C C; Klein, C; Tijssen, M A J

    2006-01-01

    We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of

  7. A family of derivative-free conjugate gradient methods for large-scale nonlinear systems of equations

    Science.gov (United States)

    Cheng, Wanyou; Xiao, Yunhai; Hu, Qing-Jie

    2009-02-01

    In this paper, we propose a family of derivative-free conjugate gradient methods for large-scale nonlinear systems of equations. They come from two modified conjugate gradient methods [W.Y. Cheng, A two term PRP based descent Method, Numer. Funct. Anal. Optim. 28 (2007) 1217-1230; L. Zhang, W.J. Zhou, D.H. Li, A descent modified Polak-Ribiére-Polyak conjugate gradient method and its global convergence, IMA J. Numer. Anal. 26 (2006) 629-640] recently proposed for unconstrained optimization problems. Under appropriate conditions, the global convergence of the proposed method is established. Preliminary numerical results show that the proposed method is promising.

  8. Oligocene-Miocene Transition in the North Atlantic Interrupted by Warming: New Records from the Newfoundland Margin, IODP Expedition 342

    Science.gov (United States)

    Smith, R.; Liebrand, D.; van Peer, T. E.; Bohaty, S. M.; Friedrich, O.; Bornemann, A.; Blum, P.; Wilson, P. A.

    2016-12-01

    The beginning and end of the Oligocene epoch were marked by major Antarctic glaciation events. While the Eocene-Oligocene transition is known to have initiated sustained major ice sheets on Antarctica, the intensification of glaciation associated with the Oligocene-Miocene Transition (OMT) 23 Ma appears to have been ephemeral. The inference of rapid growth and then retreat of large Antarctic ice sheets on orbital time scales is difficult to reconcile with the strong hysteresis seen in the results of numerical ice sheet model experiments and the modest variability seen in published records of atmospheric CO2. A number of benthic foraminiferal proxy records have been generated at orbital resolution across the OMT, but high-resolution sea-surface records are sparse, particularly in the mid to high latitudes of the northern hemisphere, with none yet produced in the Atlantic Ocean. IODP Site 1406 (40°N, 3799 m water depth, Expedition 342: Newfoundland Sediment Drifts) recovered an interval spanning the OMT in the North Atlantic. We present planktic foraminiferal stable isotope data from this interval (23.5-22.5 Ma) with an average sample spacing of 2 kyrs. Our high-fidelity sea surface record benefits from exceptional `glassy' preservation of clay-hosted foraminifera. Variability in our record shows prominent 100 kyr eccentricity pacing (cycle amplitude typically >1.0 ‰ in δ18O and >0.6‰ in δ13C) and a strong precessional influence. Intriguingly, while the rise in δ18O associated with the OMT is fairly smooth in benthic records, our planktic data show that after over two-thirds of the total 1.6‰ rise in δ18O had already taken place, a 50 kyr recovery to pre-OMT δ18O values occured, preceeding a rapid transition to the OMT δ18O maximum. Our results demonstrate for the first time the North Atlantic sea surface response to OMT events. The structure in our new planktic stable isotope record differs markedly from that seen in published benthic records

  9. Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

    Science.gov (United States)

    Scionti, Isabella; Sera, Francesco; Govi, Monica; D’Amico, Roberto; Frambolli, Ilaria; Mele, Fabiano; Filosto, Massimiliano; Vercelli, Liliana; Ruggiero, Lucia; Berardinelli, Angela; Angelini, Corrado; Antonini, Giovanni; Bucci, Elisabetta; Cao, Michelangelo; Daolio, Jessica; Di Muzio, Antonio; Di Leo, Rita; Galluzzi, Giuliana; Iannaccone, Elisabetta; Maggi, Lorenzo; Maruotti, Valerio; Moggio, Maurizio; Mongini, Tiziana; Morandi, Lucia; Nikolic, Ana; Pastorello, Ebe; Ricci, Enzo; Rodolico, Carmelo; Santoro, Lucio; Servida, Maura; Siciliano, Gabriele; Tomelleri, Giuliano

    2013-01-01

    Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% of healthy individuals carry this molecular signature and 19% of subjects affected by facioscapulohumeral muscular dystrophy do not carry alleles with eight or fewer D4Z4 repeats. Therefore, prognosis for subjects carrying or at risk of carrying D4Z4 reduced alleles has become more complicated. To test for additional prognostic factors, we measured the degree of motor impairment in a large group of patients affected by facioscapulohumeral muscular dystrophy and their relatives who are carrying D4Z4 reduced alleles. The clinical expression of motor impairment was assessed in 530 subjects, 163 probands and 367 relatives, from 176 unrelated families according to a standardized clinical score. The associations between clinical severity and size of D4Z4 allele, degree of kinship, gender, age and 4q haplotype were evaluated. Overall, 32.2% of relatives did not display any muscle functional impairment. This phenotype was influenced by the degree of relation with proband, because 47.1% of second- through fifth-degree relatives were unaffected, whereas only 27.5% of first-degree family members did not show motor impairment. The estimated risk of developing motor impairment by age 50 for relatives carrying a D4Z4 reduced allele with 1–3 repeats or 4–8 repeats was 88.7% and 55%, respectively. Male relatives had a mean score significantly higher than females (5.4 versus 4.0, P = 0.003). No 4q haplotype was exclusively associated with the presence of disease. In 13% of families in which D4Z4 alleles with 4–8 repeats segregate, the diagnosis of facioscapulohumeral muscular dystrophy was reported only in one generation. In conclusion, this large-scale analysis provides further information that should be taken into account when counselling families

  10. MPI-PHYLIP: parallelizing computationally intensive phylogenetic analysis routines for the analysis of large protein families.

    Directory of Open Access Journals (Sweden)

    Alexander J Ropelewski

    Full Text Available BACKGROUND: Phylogenetic study of protein sequences provides unique and valuable insights into the molecular and genetic basis of important medical and epidemiological problems as well as insights about the origins and development of physiological features in present day organisms. Consensus phylogenies based on the bootstrap and other resampling methods play a crucial part in analyzing the robustness of the trees produced for these analyses. METHODOLOGY: Our focus was to increase the number of bootstrap replications that can be performed on large protein datasets using the maximum parsimony, distance matrix, and maximum likelihood methods. We have modified the PHYLIP package using MPI to enable large-scale phylogenetic study of protein sequences, using a statistically robust number of bootstrapped datasets, to be performed in a moderate amount of time. This paper discusses the methodology used to parallelize the PHYLIP programs and reports the performance of the parallel PHYLIP programs that are relevant to the study of protein evolution on several protein datasets. CONCLUSIONS: Calculations that currently take a few days on a state of the art desktop workstation are reduced to calculations that can be performed over lunchtime on a modern parallel computer. Of the three protein methods tested, the maximum likelihood method scales the best, followed by the distance method, and then the maximum parsimony method. However, the maximum likelihood method requires significant memory resources, which limits its application to more moderately sized protein datasets.

  11. 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.

  12. Evolutionary expansion and divergence in a large family of primate-specific zinc finger transcription factor genes

    Energy Technology Data Exchange (ETDEWEB)

    Hamilton, A T; Huntley, S; Tran-Gyamfi, M; Baggott, D; Gordon, L; Stubbs, L

    2005-09-28

    Although most genes are conserved as one-to-one orthologs in different mammalian orders, certain gene families have evolved to comprise different numbers and types of protein-coding genes through independent series of gene duplications, divergence and gene loss in each evolutionary lineage. One such family encodes KRAB-zinc finger (KRAB-ZNF) genes, which are likely to function as transcriptional repressors. One KRAB-ZNF subfamily, the ZNF91 clade, has expanded specifically in primates to comprise more than 110 loci in the human genome, yielding large gene clusters in human chromosomes 19 and 7 and smaller clusters or isolated copies at other chromosomal locations. Although phylogenetic analysis indicates that many of these genes arose before the split between old world monkeys and new world monkeys, the ZNF91 subfamily has continued to expand and diversify throughout the evolution of apes and humans. The paralogous loci are distinguished by sequence divergence within their zinc finger arrays indicating a selection for proteins with different DNA binding specificities. RT-PCR and in situ hybridization data show that some of these ZNF genes can have tissue-specific expression patterns, however many KRAB-ZNFs that are near-ubiquitous could also be playing very specific roles in halting target pathways in all tissues except for a few, where the target is released by the absence of its repressor. The number of variant KRAB-ZNF proteins is increased not only because of the large number of loci, but also because many loci can produce multiple splice variants, which because of the modular structure of these genes may have separate and perhaps even conflicting regulatory roles. The lineage-specific duplication and rapid divergence of this family of transcription factor genes suggests a role in determining species-specific biological differences and the evolution of novel primate traits.

  13. Batch and kinetic studies of Ni adsorption on highly humified Newfoundland peat

    Energy Technology Data Exchange (ETDEWEB)

    Asapo, E.S.; Coles, C.A. [Memorial Univ. of Newfoundland, St. John' s, NL (Canada). Faculty of Engineering and Applied Science

    2010-07-01

    Metal precipitation and neutralization processes are used to treat effluents produced by the metals industry. Nickel (Ni) mining in Newfoundland and Labrador (NL) may become a source of pollution if lime precipitation techniques are used to treat effluents as an accumulation of the metal in aquatic organisms and plants may pose a health risk to humans and animals. Studies have indicated that peat can be used as a low-cost adsorbent for metals. This study investigated the kinetic and sorption equilibria parameters for the uptake of Ni with saprist NL peat. The aim of the study was to determine how the peat can be used to remove metals from the Ni mining effluents. A pseudo second order kinetic model with regression coefficients characterized kinetic parameters at a solution pH of 5.5 for peat doses of 4, 10, 21 and 40 g per litre with solution concentrations of 24, 50, 125 and 200 mg per litre. Langmuir and Freundlich isotherm equilibrium sorption parameters were determined. The study demonstrated that over 90 percent of Ni removal was obtained using the Langmuir isotherm. The adsorption process was significantly influenced by the peat dose and the initial metal concentration.12 refs., 4 tabs.

  14. Source Water Protection in Rural Newfoundland and Labrador: Limitations and Promising Actions

    Directory of Open Access Journals (Sweden)

    Seth Bomangsaan Eledi

    2017-07-01

    Full Text Available The purpose of this paper is to exemplify through recent research in Newfoundland and Labrador (NL the extent of the current limitations for source water protection and potential opportunities for improvement in the province, particularly for rural communities. The findings of this paper draw from the results of four related studies led by the co-authors. These four studies took place in NL between 2012 and 2016, and derived data through a mixed-method approach using literature reviews, key informant interviews, surveys, and consultations. The article provides an overview of the state of source water protection in NL and the challenges faced, with case examples to illustrate key points. Findings indicate there is currently a source water protection gap in NL limiting local governments in implementing their source water protection obligations under provincial policy and regulations. This implementation gap has been attributed to a lack of capacity for watershed monitoring, a lack of awareness of the need for source water protection and of municipal responsibilities, conflicts over multi-use watersheds and a lack of watershed planning and management. Greater education and collaboration in source water protection efforts amongst all watershed users, watershed groups, local governments and the provincial government could offer promise to fill this gap.

  15. Exploring the diversity and metabolic potential of actinomycetes from temperate marine sediments from Newfoundland, Canada.

    Science.gov (United States)

    Duncan, K R; Haltli, B; Gill, K A; Correa, H; Berrué, F; Kerr, R G

    2015-01-01

    Marine sediments from Newfoundland, Canada were explored for biotechnologically promising Actinobacteria using culture-independent and culture-dependent approaches. Culture-independent pyrosequencing analyses uncovered significant actinobacterial diversity (H'-2.45 to 3.76), although the taxonomic diversity of biotechnologically important actinomycetes could not be fully elucidated due to limited sampling depth. Assessment of culturable actinomycete diversity resulted in the isolation of 360 actinomycetes representing 59 operational taxonomic units, the majority of which (94 %) were Streptomyces. The biotechnological potential of actinomycetes from NL sediments was assessed by bioactivity and metabolomics-based screening of 32 representative isolates. Bioactivity was exhibited by 41 % of isolates, while 11 % exhibited unique chemical signatures in metabolomics screening. Chemical analysis of two isolates resulted in the isolation of the cytotoxic metabolite 1-isopentadecanoyl-3β-D-glucopyranosyl-X-glycerol from Actinoalloteichus sp. 2L868 and sungsanpin from Streptomyces sp. 8LB7. These results demonstrate the potential for the discovery of novel bioactive metabolites from actinomycetes isolated from Atlantic Canadian marine sediments.

  16. Molecular characterization of birnaviruses isolated from wild marine fishes at the Flemish Cap (Newfoundland)

    Science.gov (United States)

    Romero-Brey, I.; Batts, W.N.; Bandin, I.; Winton, J.R.; Dopazo, C.P.

    2004-01-01

    Several isolates of aquatic birnaviruses were recovered from different species of wild fish caught in the Flemish Cap, a Newfoundland fishery close to the Atlantic coast of Canada. The nucleotide sequence of a region of the NS gene was identical among the isolates and was most similar to the Dry Mills and West Buxton reference strains of infectious pancreatic necrosis virus (IPNV). Phylogenetic analysis of the sequence of a region of the VP2 gene demonstrated that the isolates were most closely aligned with the American strains of IPNV serotype Al. Electron microscopy of virus structures clarified and concentrated from cultures of infected chinook salmon embryo (CHSE-214) cells revealed a majority of typical IPNV-like icosahedral particles, as well as a low proportion of type I tubules having a diameter of approximately 55 nm and a variable length of up to 2 ??m. The tubules could be propagated in cell cultures, but always in the presence of low proportions of icosahedral particles. Cloning of selected isolates by serial dilution yielded preparations with a high proportion of the tubular structures with a density in CsCl gradients of approximately 1.30 g cm-3. Polyacrylamide gel electrophoresis revealed the material in the band was composed of the IPNV pVP2 and VP2 proteins.

  17. Evaluation of seabirds in Newfoundland and Labrador, Canada, as hosts of influenza A viruses.

    Science.gov (United States)

    Wille, Michelle; Huang, Yanyan; Robertson, Gregory J; Ryan, Pierre; Wilhelm, Sabina I; Fifield, David; Bond, Alexander L; Granter, Alissa; Munro, Hannah; Buxton, Rachel; Jones, Ian L; Fitzsimmons, Michelle G; Burke, Chantelle; Tranquilla, Laura McFarlane; Rector, Megan; Takahashi, Linda; Kouwenberg, Amy-Lee; Storey, Anne; Walsh, Carolyn; Hedd, April; Montevecchi, William A; Runstadler, Jonathan A; Ojkic, Davor; Whitney, Hugh; Lang, Andrew S

    2014-01-01

    Influenza A viruses infect a wide range of hosts, including many species of birds. Avian influenza A virus (AIV) infection appears to be most common in Anseriformes (ducks, geese, and swans) and some Charadriiformes (shorebirds and gulls), but many other birds also serve as hosts of AIV. Here, we evaluated the role of seabirds as hosts for AIV. We tested 3,160 swab samples from 13 seabird species between May 2008 and December 2011 in Newfoundland and Labrador, Canada. We also tested 156 serum samples for evidence of previous infection of AIV in Common Murres (Uria aalge) and Atlantic Puffins (Fratercula arctica). Avian influenza A virus was detected in breeding Common Murres and nonbreeding Thick-billed Murres (Uria lomvia), and Common Murres also had high antibody prevalence (44%). From these findings, combined with other studies showing AIV infection in murres, we conclude that murres are important for the ecology of AIV. For other species (Razorbill, Alca torda; Leach's Storm-Petrel, Oceanodroma leucorhoa; Black-legged Kittiwake, Rissa tridactyla; Atlantic Puffin) with good coverage (>100 samples) we did not detect AIV. However, serology indicates infection does occur in Atlantic Puffins, with 22% antibody prevalence found. The possibility of virus spread through dense breeding colonies and the long distance movements of these hosts make a more thorough evaluation of the role for seabirds as hosts of AIV important.

  18. The Arrival of the Northern House Mosquito Culex pipiens (Diptera: Culicidae) on Newfoundland's Avalon Peninsula.

    Science.gov (United States)

    Chaulk, Andrew C; Carson, Kate P; Whitney, Hugh G; Fonseca, Dina M; Chapman, Thomas W

    2016-11-01

    Culex pipiens L., the northern house mosquito, is the primary vector of West Nile virus to humans along the east coast of North America and thus the focus of much study. This species is an urban container-breeding mosquito whose close contact with humans and flexibility in host choice has led to its classification as a "bridge vector"; that is, it is thought to move zoonotic diseases to humans from vertebrate reservoirs. While this invasive species is now well documented in its established range, which expanded in 2001 to include Canada, the existence of populations of this species along the fringes of its range are less well known. Here we report, using morphological and genetic techniques, the existence of two locations where Cx. pipiens exists in Newfoundland in both expected and unexpected sites based on projected habitat suitability on the island. © The Authors 2016. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  19. Developmental polymorphism in a Newfoundland population of the hemlock looper, Lambdina fiscellaria (Lepidoptera: Geometridae).

    Science.gov (United States)

    Berthiaume, Richard; Bauce, Eric; Hébert, Christian; Brodeur, Jacques

    2007-08-01

    The hemlock looper [Lambdina fiscellaria (Guenée)], a widespread and highly polyphagous Geometridae, is considered one of the most economically important defoliators of North American coniferous forests. Variations in the number of larval instars between geographic populations of this species have been previously reported in the literature. However, whether such developmental polymorphism occurs within a given population is unknown. In this study, we report the presence of both four and five larval instar individuals within a population of hemlock looper in Newfoundland when reared on balsam fir. For both sexes, the majority of individuals reared on balsam fir shoots went through four larval instars, but more than one third of the females (35.3%) went through five larval instars. Females with four larval instars developed faster and had smaller pupal weight than females with five larval instars. However, a growth-related index (weight gain per unit of time) was similar for the two ecotypes (four or five larval instars). No significant difference was observed between the two ecotypes in terms of reproductive capacity (fecundity and egg size). We also found significant differences in life history traits between males and females. Results indicate that developmental polymorphism, in this case, the variation in the number of larval instars, might provide some adaptive attributes that allowed exploitation of a broader ecological niche.

  20. Family structure and phylogenetic analysis of odorant receptor genes in the large yellow croaker (Larimichthys crocea

    Directory of Open Access Journals (Sweden)

    Zhu Peng

    2011-08-01

    Full Text Available Abstract Background Chemosensory receptors, which are all G-protein-coupled receptors (GPCRs, come in four types: odorant receptors (ORs, vomeronasal receptors, trace-amine associated receptors and formyl peptide receptor-like proteins. The ORs are the most important receptors for detecting a wide range of environmental chemicals in daily life. Most fish OR genes have been identified from genome databases following the completion of the genome sequencing projects of many fishes. However, it remains unclear whether these OR genes from the genome databases are actually expressed in the fish olfactory epithelium. Thus, it is necessary to clone the OR mRNAs directly from the olfactory epithelium and to examine their expression status. Results Eighty-nine full-length and 22 partial OR cDNA sequences were isolated from the olfactory epithelium of the large yellow croaker, Larimichthys crocea. Bayesian phylogenetic analysis classified the vertebrate OR genes into two types, with several clades within each type, and showed that the L. crocea OR genes of each type are more closely related to those of fugu, pufferfish and stickleback than they are to those of medaka, zebrafish and frog. The reconciled tree showed 178 duplications and 129 losses. The evolutionary relationships among OR genes in these fishes accords with their evolutionary history. The fish OR genes have experienced functional divergence, and the different clades of OR genes have evolved different functions. The result of real-time PCR shows that different clades of ORs have distinct expression levels. Conclusion We have shown about 100 OR genes to be expressed in the olfactory epithelial tissues of L. crocea. The OR genes of modern fishes duplicated from their common ancestor, and were expanded over evolutionary time. The OR genes of L. crocea are closely related to those of fugu, pufferfish and stickleback, which is consistent with its evolutionary position. The different expression

  1. Large plasmids of Escherichia coli and Salmonella encode highly diverse arrays of accessory genes on common replicon families.

    Science.gov (United States)

    Williams, Laura E; Wireman, Joy; Hilliard, Valda C; Summers, Anne O

    2013-01-01

    Plasmids are important in evolution and adaptation of host bacteria, yet we lack a comprehensive picture of their own natural variation. We used replicon typing and RFLP analysis to assess diversity and distribution of plasmids in the ECOR, SARA, SARB and SARC reference collections of Escherichia coli and Salmonella. Plasmids, especially large (≥30 kb) plasmids, are abundant in these collections. Host species and genotype clearly impact plasmid prevalence; plasmids are more abundant in ECOR than SAR, but, within ECOR, subgroup B2 strains have the fewest large plasmids. The majority of large plasmids have unique RFLP patterns, suggesting high variation, even within dominant replicon families IncF and IncI1. We found only four conserved plasmid types within ECOR, none of which are widely distributed. Within SAR, conserved plasmid types are primarily serovar-specific, including a pSLT-like plasmid in 13 Typhimurium strains. Conservation of pSLT contrasts with variability of other plasmids, suggesting evolution of serovar-specific virulence plasmids is distinct from that of most enterobacterial plasmids. We sequenced a conserved serovar Heidelberg plasmid but did not detect virulence or antibiotic resistance genes. Our data illustrate the high degree of natural variation in large plasmids of E. coli and Salmonella, even among plasmids sharing backbone genes.

  2. Distribution of bog and heath in a Newfoundland blanket bog complex: topographic limits on the hydrological processes governing blanket bog development

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    P. A. Graniero

    1999-01-01

    Full Text Available This research quantified the role of topography and hydrological processes within and, hence, the development of, blanket bogs. Topographic characteristics were derived from digital elevation models (DEMs developed for the surface and underlying substrate at three blanket bog sites on the southeastern lobe of the Avalon Peninsula, Newfoundland. A multinomial logit (MNL model of the probability of bog occurrence was constructed in terms of relevant topographic characteristics. The resulting model was then used to investigate the probabilistic boundary conditions of bog occurrence within the landscape. Under average curvatures for the sites studied, substrate slopes up to 0.065 favoured blanket bog development. However, steeper slopes could, theoretically, be occupied by blanked bog where water is concentrated by convergent curvatures or large contributing areas. Near community boundaries, bog and heath communities both occupied similar topographic conditions. Since these boundary locations are capable of supporting the hydrological conditions necessary for bog development, the heath is likely to be encroached upon by bog.

  3. A Study of Education, Out-Migration of Young Adults, and the Impact of Information and Communications Technologies on the Economies of Rural Communities in Newfoundland and Labrador [Avalon West School District

    Science.gov (United States)

    Brown, Jean; Handrigan, Rachel; Stone, Gordon; Downey, Sherman

    2002-01-01

    This research project is a study of education, out-migration of young adults, and the impact of Information and Communications Technologies (ICT) on the education and economies of rural communities in Newfoundland and Labrador. A qualitative study of Newfoundland and Labrador's rural schools were conducted from January to August 2001. This report…

  4. A large expansion of the HSFY gene family in cattle shows dispersion across Yq and testis-specific expression.

    Directory of Open Access Journals (Sweden)

    Christine K Hamilton

    Full Text Available Heat shock transcription factor, Y-linked (HSFY is a member of the heat shock transcriptional factor (HSF family that is found in multiple copies on the Y chromosome and conserved in a number of species. Its function still remains unknown but in humans it is thought to play a role in spermatogenesis. Through real time polymerase chain reaction (PCR analyses we determined that the HSFY family is largely expanded in cattle (∼70 copies compared with human (2 functional copies, 4 HSFY-similar copies. Unexpectedly, we found that it does not vary among individual bulls as a copy number variant (CNV. Using fluorescence in situ hybridization (FISH we found that the copies are dispersed along the long arm of the Y chromosome (Yq. HSFY expression in cattle appears restricted to the testis and its mRNA correlates positively with mRNA markers of spermatogonial and spermatocyte cells (UCHL1 and TRPC2, respectively which suggests that HSFY is expressed (at least in part in early germ cells.

  5. 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.

  6. The Crystal Structure of Bacteriophage HK97 gp6: Defining a Large Family of Head-Tail Connector Proteins

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli, Lia; Lam, Robert; Tuite, Ashleigh; Baker, Lindsay A; Sadowski, Paul D; Radford, Devon R; Rubinstein, John L; Battaile, Kevin P; Chirgadze, Nickolay; Maxwell, Karen L; Davidson, Alan R [UHN; (Toronto); (HWMRI)

    2011-11-23

    The final step in the morphogenesis of long-tailed double-stranded DNA bacteriophages is the joining of the DNA-filled head to the tail. The connector is a specialized structure of the head that serves as the interface for tail attachment and the point of egress for DNA from the head during infection. Here, we report the determination of a 2.1 Å crystal structure of gp6 of bacteriophage HK97. Through structural comparisons, functional studies, and bioinformatic analysis, gp6 has been determined to be a component of the connector of phage HK97 that is evolutionarily related to gp15, a well-characterized connector component of bacteriophage SPP1. Whereas the structure of gp15 was solved in a monomeric form, gp6 crystallized as an oligomeric ring with the dimensions expected for a connector protein. Although this ring is composed of 13 subunits, which does not match the symmetry of the connector within the phage, sequence conservation and modeling of this structure into the cryo-electron microscopy density of the SPP1 connector indicate that this oligomeric structure represents the arrangement of gp6 subunits within the mature phage particle. Through sequence searches and genomic position analysis, we determined that gp6 is a member of a large family of connector proteins that are present in long-tailed phages. We have also identified gp7 of HK97 as a homologue of gp16 of phage SPP1, which is the second component of the connector of this phage. These proteins are members of another large protein family involved in connector assembly.

  7. 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.

  8. Cenozoic Circulation History of the North Atlantic Ocean From Seismic Stratigraphy of the Newfoundland Ridge Drift Complex

    Science.gov (United States)

    Boyle, P. R.; Romans, B.; Norris, R. D.; Tucholke, B. E.; Swift, S. A.; Sexton, P. F.

    2014-12-01

    In the North Atlantic Ocean, contour-following bottom currents have eroded regional unconformities and deposited contourite drifts that exceed two km in thickness and extend for 100s of km. The character of deep-water masses that are conveyed through ocean basins by such currents influence global heat transfer and ocean-atmosphere partitioning of CO2. The Newfoundland Ridge Drift Complex lies directly under the modern Deep Western Boundary Current southeast of Newfoundland, close to the site of overturning in the northwest Atlantic Ocean and at the intersection of the warm Gulf Stream and cool Labrador surface currents. To the south are regions of the western North Atlantic basin that are influenced by southern- as well as northern-sourced bottom waters. Here, we document the evolution of North Atlantic deep-water circulation by seismic-stratigraphic analysis of the long-lived and areally extensive Newfoundland Ridge Drift Complex. IODP Expedition 342 boreholes provide age control on seismic units, allowing sedimentation patterns to be placed in a temporal framework. We find three major phases of sedimentation: pre-contourite drift (~115-50 Ma), active contourite drift (~50-2.6 Ma), and late-contourite drift (~2.6-0 Ma). Bottom-current-controlled deposition of terrigenous-rich sediment began at ~50 Ma, which correlates to the onset of a long-term global cooling trend. A further change in deep circulation near the Eocene-Oligocene transition (~30 Ma) is indicated by more focused drift sedimentation with greatly increased accumulation rates and stratal architecture dominated by mud waves. At ~2.6 Ma to present the axis of drift accumulation shifted markedly towards shallower water depths, corresponding with the onset of Northern Hemisphere ice sheets. We discuss how these reorganizations of deep circulation correlate with results of other North Atlantic seismic stratigraphic studies to the north and south.

  9. Lipid Classes and Fatty Acids in Ophryotrocha cyclops, a Dorvilleid from Newfoundland Aquaculture Sites.

    Science.gov (United States)

    Salvo, Flora; Dufour, Suzanne C; Hamoutene, Dounia; Parrish, Christopher C

    2015-01-01

    A new opportunistic annelid (Ophryotrocha cyclops) discovered on benthic substrates underneath finfish aquaculture sites in Newfoundland (NL) may be involved in the remediation of organic wastes. At those aquaculture sites, bacterial mats and O. cyclops often coexist and are used as indicators of organic enrichment. Little is known on the trophic strategies used by these annelids, including whether they might consume bacteria or other aquaculture-derived wastes. We studied the lipid and fatty acid composition of the annelids and their potential food sources (degraded flocculent organic matter, fresh fish pellets and bacterial mats) to investigate feeding relationships in these habitats and compared the lipid and fatty acid composition of annelids before and after starvation. Fish pellets were rich in lipids, mainly terrestrially derived C18 fatty acids (18:1ω9, 18:2ω6, 18:3ω3), while bacterial samples were mainly composed of ω7 fatty acids, and flocculent matter appeared to be a mixture of fresh and degrading fish pellets, feces and bacteria. Ophryotrocha cyclops did not appear to store excessive amounts of lipids (13%) but showed a high concentration of ω3 and ω6 fatty acids, as well as a high proportion of the main fatty acids contained in fresh fish pellets and bacterial mats. The dorvilleids and all potential food sources differed significantly in their lipid and fatty acid composition. Interestingly, while all food sources contained low proportions of 20:5ω3 and 20:2ω6, the annelids showed high concentrations of these two fatty acids, along with 20:4ω6. A starvation period of 13 days did not result in a major decrease in total lipid content; however, microscopic observations revealed that very few visible lipid droplets remained in the gut epithelium after three months of starvation. Ophryotrocha cyclops appears well adapted to extreme environments and may rely on lipid-rich organic matter for survival and dispersal in cold environments.

  10. Environmental effects monitoring at the Terra Nova offshore oil development (Newfoundland, Canada): Program design and overview

    Science.gov (United States)

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

    2014-12-01

    An environmental effects monitoring (EEM) program was developed by Suncor (formerly Petro-Canada) in 1997/98 to assess effects of the Terra Nova offshore oil and gas development on the receiving environment. The Terra Nova Field is located on the Grand Banks approximately 350 km southeast of Newfoundland (Canada), at approximately 100 m water depth. The EEM program was developed with guidance from experts in government, academia and elsewhere, and with input from the public. The EEM program proposed by Suncor was accepted by Canadian regulatory agencies and the program was implemented in 2000, 2001, 2002, 2004, 2006, 2008 and 2010, with pre-development sampling in 1997. The program continues to be implemented every two years. EEM includes an assessment of alterations in sediment quality through examination of changes in sediment chemistry, particle size, toxicity and benthic invertebrate community structure. A second component of the program examines potential effects on two species of commercial fishing interest: Iceland scallop (Chlamys islandica) and American plaice (Hippoglossoides platessoides). Chemical body burden for these two species is examined and taste tests are performed to assess the presence of taint in edible tissues. Effects on American plaice bioindicators are also examined. A final component of the program assesses potential effects of the Terra Nova development on water quality and examines water column chemistry, chlorophyll concentration and physical properties. The papers presented in this collection focus on effects of drill cuttings and drilling muds on the seafloor environment and, as such, report results on sediment quality and bioaccumulation of drilling mud components in Iceland scallop and American plaice. This paper provides information on drilling discharges, an overview of the physical oceanography at the Terra Nova Field, and an overview of the field program designed to assess environmental effects of drilling at Terra Nova.

  11. A coastal foodscape: examining the relationship between changing fisheries and community food security on the west coast of Newfoundland

    Directory of Open Access Journals (Sweden)

    Kristen N. Lowitt

    2014-09-01

    Full Text Available Fisheries make vital contributions to food security and food security is an important part of fisheries governance. However, there are relatively few in-depth studies examining the consequences of collapsed and changing fisheries for the food security of coastal communities. In this case study I use the concept of the coastal foodscape to look at the relationship between changing fisheries and community food security in the Bonne Bay region on the west coast of Newfoundland. I examine the social-ecological interactions that compose the local food system and their changing relationship to community food security, and point to directions for developing a more resilient and democratic food system.

  12. Early-middle Eocene transition in calcareous nannofossil assemblages at IODP Site U1410 (Southeast Newfoundland Ridge, NW Atlantic)

    Science.gov (United States)

    Cappelli, Carlotta; Agnini, Claudia; Yamamoto, Yuhji

    2017-04-01

    The early-middle Eocene interval documents the shift from the warmest greenhouse conditions occurred during the Early Eocene Climatic Optimum (EECO, 52-50 Ma) to the beginning of the cooling phase which led to the Oligocene icehouse regime. This important transition is well expressed as a reversal in the global oxygen and carbonate isotope trends (Zachos et al., 2001). Moreover, this interval was a time of remarkable transformation in the marine biosphere. Communities of calcareous nannoplankton, marine calcifying algae at the base of the oceans food chain, experienced transient and permanent profound changes. Calcareous nannofossil are regarded as remarkable tools both in biostratigraphy and paleoecology, with several taxa that show different responses to changes in physical parameters of surface waters. Here, we aim to document calcareous nannoplankton assemblage changes across the early-middle Eocene transition, in order to upset the biostratigraphic framework and to increase comprehension of how phytoplankton communities responded to paleoenvironmental changes at that time. The sedimentary successions recovered at IODP Site U1410 (Exp. 342; 41˚ 19.6987'N; 49˚ 10.1995'W, Norris et al., 2012) on the Southeast Newfoundland Ridge (NW Atlantic) offer an expanded record of the early-middle Eocene interval that is marked by an increase in accumulation rate related to sedimentation of clay-rich nannofossil oozes. Quantitative analysis of calcareous nannofossil assemblages was conducted, encompassing calcareous nannofossil Zones NP12 -NP15 or CNE4-CNE10 (Martini, 1971; Agnini et al., 2014). The study interval records the appearance and proliferation of Noelaerhabdaceae family (i.e, Reticulofenestra/Dictyococcites group), which can be considered one of the most significant shifts in the assemblage structure of the Paleogene. This change was probably favored by modifications in surface water chemistry. The middle Eocene clay-rich sediments contain well preserved

  13. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

    Science.gov (United States)

    Marshall, J D; Ludman, M D; Shea, S E; Salisbury, S R; Willi, S M; LaRoche, R G; Nishina, P M

    1997-12-12

    We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred. The phenotype includes early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In addition, hyperinsulinemia and hypertriglyceridemia with normal cholesterol levels were observed in most affected individuals tested. Non-insulin dependent diabetes mellitus and growth retardation appear to be age-related manifestations that occur post-adolescence. Younger affected children are not overtly hyperglycemic and are normal or above average height for age. Although the AS patients in kindred 1 presumably carry the same mutation, many manifestations of the disease are variable. For example, of the 8 children in the Acadian kindred, 4 have scoliosis, 2 have had infantile cardiomyopathy, 2 are hypothyroid, 1 has had hepatic dysfunction and is hypertensive, and 4 have developed asthma. Seven subjects described in this kindred exhibit developmental delay. One additional manifestation not described widely in the literature, advanced bone age, was observed in all subjects tested. The clinical data from this large Acadian kindred, together with information obtained from 4 additional AS patients in 3 unrelated kindreds, confirm and extend clinical observations previously described. In addition, the Acadian kindred with multiple affected individuals, probably arising from a common founder, should allow for identification of the chromosomal localization of a gene causing AS.

  14. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.

    Science.gov (United States)

    Whatley, Sharon D; Mason, Nicola G; Holme, S Alexander; Anstey, Alex V; Elder, George H; Badminton, Michael N

    2007-12-01

    Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria characterized by partial deficiency of ferrochelatase (FECH), accumulation of protoporphyrin IX in erythrocytes, skin, and liver, and acute photosensitivity. Genetic counseling in EPP requires identification of FECH mutations, but current sequencing-based procedures fail to detect mutations in about one in six families. We have used gene dosage analysis by quantitative PCR to identify large deletions of the FECH gene in 19 (58%) of 33 unrelated UK patients with EPP in whom mutations could not be detected by sequencing. Seven deletions were identified, six of which were previously unreported. Breakpoints were identified for six deletions (c.1-7887-IVS1+2425insTTCA; c.1-9629-IVS1+2437; IVS2-1987-IVS4+352del; c.768-IVS7+244del; IVS7+2784-IVS9+108del; IVS6+2350-TGA+95del). Five breakpoints were in intronic repeat sequences (AluSc, AluSq, AluSx, L1MC4). The remaining deletion (Del Ex3-4) is likely to be a large insertion-deletion. Combining quantitative PCR with routine sequencing increased the sensitivity of mutation detection in 189 unrelated UK patients with EPP from 83% (95% CI: 76-87%) to 93% (CI: 88-96%) (P=0.003). Our findings show that large deletions of the FECH gene are an important cause of EPP. Gene dosage analysis should be incorporated into routine procedures for mutation detection in EPP.

  15. Accuracy of genomic selection models in a large population of open-pollinated families in white spruce.

    Science.gov (United States)

    Beaulieu, J; Doerksen, T; Clément, S; MacKay, J; Bousquet, J

    2014-10-01

    Genomic selection (GS) is of interest in breeding because of its potential for predicting the genetic value of individuals and increasing genetic gains per unit of time. To date, very few studies have reported empirical results of GS potential in the context of large population sizes and long breeding cycles such as for boreal trees. In this study, we assessed the effectiveness of marker-aided selection in an undomesticated white spruce (Picea glauca (Moench) Voss) population of large effective size using a GS approach. A discovery population of 1694 trees representative of 214 open-pollinated families from 43 natural populations was phenotyped for 12 wood and growth traits and genotyped for 6385 single-nucleotide polymorphisms (SNPs) mined in 2660 gene sequences. GS models were built to predict estimated breeding values using all the available SNPs or SNP subsets of the largest absolute effects, and they were validated using various cross-validation schemes. The accuracy of genomic estimated breeding values (GEBVs) varied from 0.327 to 0.435 when the training and the validation data sets shared half-sibs that were on average 90% of the accuracies achieved through traditionally estimated breeding values. The trend was also the same for validation across sites. As expected, the accuracy of GEBVs obtained after cross-validation with individuals of unknown relatedness was lower with about half of the accuracy achieved when half-sibs were present. We showed that with the marker densities used in the current study, predictions with low to moderate accuracy could be obtained within a large undomesticated population of related individuals, potentially resulting in larger gains per unit of time with GS than with the traditional approach.

  16. 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.

  17. Isolation and Characterization of Plant-Pathogenic Streptomyces Species Associated with Common Scab-Infected Potato Tubers in Newfoundland.

    Science.gov (United States)

    Fyans, Joanna K; Bown, Luke; Bignell, Dawn R D

    2016-02-01

    Potato common scab (CS) is an economically important crop disease that is caused by several members of the genus Streptomyces. In this study, we characterized the plant-pathogenic Streptomyces spp. associated with CS-infected potato tubers harvested in Newfoundland, Canada. A total of 17 pathogenic Streptomyces isolates were recovered from potato scab lesions, of which eight were determined to be most similar to the known CS pathogen S. europaeiscabiei. All eight S. europaeiscabiei isolates were found to produce the thaxtomin A phytotoxin and to harbor the nec1 virulence gene, and most also carry the putative virulence gene tomA. The remaining isolates appear to be novel pathogenic species that do not produce thaxtomin A, and only two of these isolates were determined to harbor the nec1 or tomA genes. Of the non-thaxtomin-producing isolates, strain 11-1-2 was shown to exhibit a severe pathogenic phenotype against different plant hosts and to produce a novel, secreted phytotoxic substance. This is the first report documenting the plant-pathogenic Streptomyces spp. associated with CS disease in Newfoundland. Furthermore, our findings provide further evidence that phytotoxins other than thaxtomin A may also contribute to the development of CS by Streptomyces spp.

  18. Using family-based imputation in genome-wide association studies with large complex pedigrees: the Framingham Heart Study.

    Directory of Open Access Journals (Sweden)

    Ming-Huei Chen

    Full Text Available Imputation has been widely used in genome-wide association studies (GWAS to infer genotypes of un-genotyped variants based on the linkage disequilibrium in external reference panels such as the HapMap and 1000 Genomes. However, imputation has only rarely been performed based on family relationships to infer genotypes of un-genotyped individuals. Using 8998 Framingham Heart Study (FHS participants genotyped with Affymetrix 550K SNPs, we imputed genotypes of same set of SNPs for additional 3121 participants, most of whom were never genotyped due to lack of DNA sample. Prior to imputation, 122 pedigrees were too large to be handled by the imputation software Merlin. Therefore, we developed a novel pedigree splitting algorithm that can maximize the number of genotyped relatives for imputing each un-genotyped individual, while keeping new sub-pedigrees under a pre-specified size. In GWAS of four phenotypes available in FHS (Alzheimer disease, circulating levels of fibrinogen, high-density lipoprotein cholesterol, and uric acid, we compared results using genotyped individuals only with results using both genotyped and imputed individuals. We studied the impact of applying different imputation quality filtering thresholds on the association results and did not found a universal threshold that always resulted in a more significant p-value for previously identified loci. However most of these loci had a lower p-value when we only included imputed genotypes with with ≥60% SNP- and ≥50% person-specific imputation certainty. In summary, we developed a novel algorithm for splitting large pedigrees for imputation and found a plausible imputation quality filtering threshold based on FHS. Further examination may be required to generalize this threshold to other studies.

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

    Science.gov (United States)

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

    2006-06-01

    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 (Pjobs 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 (pgender 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 with allergen sampling data for male and female job areas showed a gender difference in median cumulative exposures (duration of exposure x level of exposures) for health assessment participants. Health assessment participants with estimated higher median cumulative exposures were more likely to receive a diagnosis of almost certain/highly probable OA and allergy. Semistructured interviews with 27 health assessment participants (24

  20. Large repayments of premium subsidies may be owed to the IRS if family income changes are not promptly reported.

    Science.gov (United States)

    Jacobs, Ken; Graham-Squire, Dave; Gould, Elise; Roby, Dylan

    2013-09-01

    Subsidies for health insurance premiums under the Affordable Care Act are refundable tax credits. They can be taken when taxes are filed or in advance, as reductions in monthly premiums that must be reconciled at tax filing. Recipients who take subsidies in advance will receive tax refunds if their subsidies were too small but will have to make repayments if their subsidies were too high. We analyzed predicted repayments and refunds for people receiving subsidies, using California as a case study. We found that many families could owe large repayments to the Internal Revenue Service at their next tax filing. If income changes were reported and credits adjusted in a timely manner throughout the tax year, the number of filers owing repayments would be reduced by 7-41 percent and the median size of repayments reduced by as much as 61 percent (depending on the level of changes reported and the method used to adjust the subsidy amounts). We recommend that the health insurance exchanges mandated by the Affordable Care Act educate consumers about how the subsidies work and the need to promptly report income changes. We also recommend that they provide tools and assistance to determine the amount of subsidies that enrollees should take in advance.

  1. Organic matter provenance, palaeoproductivity and bottom water anoxia during the Cenomanian/Turonian oceanic anoxic event in the Newfoundland Basin (northern proto North Atlantic Ocean)

    NARCIS (Netherlands)

    van Bentum, E.C.; Reichart, G.J.; Sinninghe Damsté, J.S.

    2012-01-01

    Free and sulfur-bound biomarkers in sediments deposited in the northern proto North Atlantic (Newfoundland Basin, ODP Site 1276) during the Cenomanian-Turonian oceanic anoxic event 2 (OAE-2) were studied. The delta C-13 records of phytane and lycopane confirmed the stratigraphic position of the posi

  2. Organic matter provenance, palaeoproductivity and bottom water anoxia during the Cenomanian/Turonian oceanic anoxic event in the Newfoundland Basin (northern proto North Atlantic Ocean)

    NARCIS (Netherlands)

    Bentum, E.C. van; Reichart, G.-J.; Sinninghe Damsté, J.S.

    2012-01-01

    Free and sulfur-bound biomarkers in sediments deposited in the northern proto North Atlantic (Newfoundland Basin, ODP Site 1276) during the Cenomanian-Turonian oceanic anoxic event 2 (OAE-2) were studied. The δ 13C records of phytane and lycopane confirmed the stratigraphic position of the positive

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

    NARCIS (Netherlands)

    Milting, Hendrik; Klauke, Baerbel; Christensen, Alex Hoerby; Muesebeck, Joerg; Walhorn, Volker; Grannemann, Soeren; Muennich, Tamara; Saric, Tomo; Rasmussen, Torsten Bloch; Jensen, Henrik Kjaerulf; Mogensen, Jens; Baecker, Carolin; Romaker, Elena; Laser, Kai Thorsten; Knyphausen, Edzard zu; 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

    2015-01-01

    Aims 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 TMEM4

  4. A modeling study of the impact of major storms on seabed shear stress and sediment transport on the Grand Banks of Newfoundland

    Science.gov (United States)

    Li, Michael Z.; Wu, Yongsheng; Han, Guoqi; Prescott, Robert H.; Tang, Charles C. L.

    2017-05-01

    Waves, current, and sediment transport processes in major storms on the Grand Banks of Newfoundland were simulated using integrated wave, three-dimensional tide and circulation, and combined-flow sediment transport models. While the tidal and nontidal currents are generally low and cause little sediment transport, storm-induced waves and currents enhance bed shear velocity by more than 5 times and cause significant sediment transport over the entire Grand Banks. The impact of storms on shear stress and transport strongly depends on water depths and the greatest impact occurs over the bathymetric highs on southeastern Grand Bank where the maximum shear velocity reaches 15 cm s-1 and the maximum transport rates are >5 kg m-1 s-1. The direction of sediment transport rotates clockwise progressively through nearly 360° during the passage of a storm. Although peak transport typically occurs on central and southeastern Grand Bank with a southeastward direction, the magnitude, direction, and timing of peak transport show strong spatial and temporal variability. The variability of the peak transport largely depends on the timing and relative intensity of the waves and the total bottom currents which in turn depends on the addition of the storm-induced and tidal currents. The calculation of the maximum transport potential suggests that sediments as coarse as small pebbles are mobile in water depths <80 m under 1:1 year storms and that medium sand is transported in water depths as deep as 200 m during major storms. Results of the sediment transport models corroborate the observed sediment erosion and accretion patterns.

  5. Gray-cheeked Thrush (Catharus minimus minimus distribution and habitat use in a montane forest landscape of western Newfoundland, Canada

    Directory of Open Access Journals (Sweden)

    Darroch M. Whitaker

    2015-12-01

    Full Text Available Once abundant, the Newfoundland Gray-cheeked Thrush (Catharus minimus minimus has declined by as much as 95% since 1975. Underlying cause(s of this population collapse are not known, although hypotheses include loss of winter habitat and the introduction of red squirrels (Tamiasciurus hudsonicus to Newfoundland. Uncertainties regarding habitat needs are also extensive, and these knowledge gaps are an impediment to conservation. We investigated neighborhood (i.e., within 115 m [4.1 ha] and landscape scale (i.e., within 1250 m [490.8 ha] habitat associations of Gray-cheeked Thrush in a 200-km² study area in the Long Range Mountains of western Newfoundland, where elevations range from 300-600 m and landcover was a matrix of old growth fir forest, 6- to 8-year-old clearcuts, coniferous scrub, bogs, and barrens. Thrushes were restricted to elevations above ~375 m, and occurrence was strongly positively related to elevation. Occurrence was also positively related to cover of tall scrub forest at the neighborhood scale, and at the landscape scale showed curvilinear relations with the proportion of both tall scrub and old growth forest that peaked with intermediate amounts of cover. Occurrence of thrushes was also highest when clearcuts made up 60%-70% of neighborhood landcover, but was negatively related to cover of clearcuts in the broader landscape. Finally, occurrence was highest in areas having 50% cover of partially harvested forest (strip cuts or row cuts at the neighborhood scale, but because this treatment was limited to one small portion of the study area, this finding may be spurious. Taken together, our results suggest selection for mixed habitats and sensitivity to both neighborhood and landscape-scale habitat. More research is needed on responses of thrushes to forestry, including use of older clearcuts, partially harvested stands, and precommercially thinned clearcuts. Finally, restriction of thrushes to higher elevations is consistent

  6. Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.

    Directory of Open Access Journals (Sweden)

    Patrícia B S Celestino-Soper

    Full Text Available The etiology of conduction disturbances necessitating permanent pacemaker (PPM implantation is often unknown, although familial aggregation of PPM (faPPM suggests a possible genetic basis. We developed a pan-cardiovascular next generation sequencing (NGS panel to genetically characterize a selected cohort of faPPM.We designed and validated a custom NGS panel targeting the coding and splicing regions of 246 genes with involvement in cardiac pathogenicity. We enrolled 112 PPM patients and selected nine (8% with faPPM to be analyzed by NGS.Our NGS panel covers 95% of the intended target with an average of 229x read depth at a minimum of 15-fold depth, reaching a SNP true positive rate of 98%. The faPPM patients presented with isolated cardiac conduction disease (ICCD or sick sinus syndrome (SSS without overt structural heart disease or identifiable secondary etiology. Three patients (33.3% had heterozygous deleterious variants previously reported in autosomal dominant cardiac diseases including CCD: LDB3 (p.D117N and TRPM4 (p.G844D variants in patient 4; TRPM4 (p.G844D and ABCC9 (p.V734I variants in patient 6; and SCN5A (p.T220I and APOB (p.R3527Q variants in patient 7.FaPPM occurred in 8% of our PPM clinic population. The employment of massive parallel sequencing for a large selected panel of cardiovascular genes identified a high percentage (33.3% of the faPPM patients with deleterious variants previously reported in autosomal dominant cardiac diseases, suggesting that genetic variants may play a role in faPPM.

  7. 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

  8. 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

  9. Diagnostic performance of various QTc interval formulas in a large family with long QT syndrome type 3 : Bazett's formula not so bad after all

    NARCIS (Netherlands)

    Brouwer, J; van den Berg, MP; Grobbee, DE; Haaksma, J; Wilde, AAM

    2003-01-01

    Background: Recently, we identified a novel mutation of SCN5A (1795insD) in a large family with LQTS(3). The aim of this study was to assess whether the various proposed corrections of the QT interval to heart rate help to improve the identification of carriers of the mutant gene. Methods: The study

  10. 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

    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...

  11. A family of 'windmill'-like {Cu6Ln12} complexes exhibiting single-molecule magnetism behavior and large magnetic entropy changes.

    Science.gov (United States)

    Alexandropoulos, Dimitris I; Poole, Katye M; Cunha-Silva, Luis; Ahmad Sheikh, Javeed; Wernsdorfer, Wolfgang; Christou, George; Stamatatos, Theocharis C

    2017-03-31

    A family of nanosized {Cu6Ln12} clusters with a 'windmill'-like topology was prepared from the employment of 2,6-diacetylpyridine dioxime, in conjunction with bridging N3(-), in 3d/4f-metal chemistry; the octadecanuclear compounds exhibit single-molecule magnetism behavior and large magnetic entropy changes, depending on the 4f-metal ion present.

  12. Diagnostic performance of various QTc interval formulas in a large family with long QT syndrome type 3 : Bazett's formula not so bad after all

    NARCIS (Netherlands)

    Brouwer, J; van den Berg, MP; Grobbee, DE; Haaksma, J; Wilde, AAM

    2003-01-01

    Background: Recently, we identified a novel mutation of SCN5A (1795insD) in a large family with LQTS(3). The aim of this study was to assess whether the various proposed corrections of the QT interval to heart rate help to improve the identification of carriers of the mutant gene. Methods: The study

  13. The Politics of School Choice in Two Countries with Large Private-Dependent Sectors (Spain and Chile): Family Strategies, Collective Action and Lobbying

    Science.gov (United States)

    Rambla, Xavier; Valiente, Oscar; Frias, Carla

    2011-01-01

    In many countries choice of school is an increasing concern for families and governments. In Spain and Chile, it is also associated with a long-standing political cleavage on the regulation of large sectors of private-dependent schools. This article analyses both the micro- and the macro-politics of choice in these two countries, where low-status…

  14. 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 SN...

  15. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

    NARCIS (Netherlands)

    Van Den Berg, Maarten P.; Wilde, Arthur A. M.; Viersma, Jan Willem; Brouwer, Jan; Haaksma, Jaap; Van Der Hout, Annemieke H.; Stolte-Dijkstra, Irene; Bezzina, Connie R.; Van Langen, Irene M.; Beaufort-Krol, Gertie C. M.; Hein Cornel, J.A.N.; Crijns, Harry J. G. M.

    2001-01-01

    Introduction: We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this famil

  16. The Politics of School Choice in Two Countries with Large Private-Dependent Sectors (Spain and Chile): Family Strategies, Collective Action and Lobbying

    Science.gov (United States)

    Rambla, Xavier; Valiente, Oscar; Frias, Carla

    2011-01-01

    In many countries choice of school is an increasing concern for families and governments. In Spain and Chile, it is also associated with a long-standing political cleavage on the regulation of large sectors of private-dependent schools. This article analyses both the micro- and the macro-politics of choice in these two countries, where low-status…

  17. 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

  18. 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.

  19. 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.

  20. Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.

    Science.gov (United States)

    Summers, Kim M; Bokil, Nilesh J; Lu, Foong Teng; Low, Jiun Tsuen; Baisden, John M; Duffy, David; Radford, Dorothy J

    2010-03-01

    A large Australian family affected with long QT syndrome (LQTS) was studied. The medical characteristics of the 16 clinically affected members were consistent with LQT1. A previously identified mutation in KCNQ1 was found in 12 affected individuals and 1 unaffected infant but absent in 4 affected family members. A haplotype consisting of specific alleles for microsatellites flanking in KCNQ1 was associated with the mutation. This was absent from the four affected individuals without the mutation, who had three different haplotypes in this region, indicating that LQTS is unlikely to be segregating with KCNQ1 in these anomalous family members. A genome scan revealed 12 regions where all four of these individuals shared alleles. One region on chromosome 21 contained the KCNE1, KCNE2, KCNJ6, and KCNJ15 genes. A common variant of KCNE1 was segregating in the family but did not explain the anomalous cases. A candidate region on chromosome 7 contained the AKAP9 and KCND2 genes. A previously reported mutation in the N-terminal Yotiao region of AKAP9 was absent from the family. No evidence was found implicating any other known or suspected LQTS gene. This family shows that there remain unidentified genetic causes of LQTS which are clinically significant and highlights the difficulties associated with genetic testing in LQTS, since we cannot rule out risk in individuals who are negative for the known mutation in KCNQ1 without knowing the second disease locus.

  1. A novel presenilin 1 mutation (L174M) in a large Cuban family with early onset Alzheimer disease.

    NARCIS (Netherlands)

    B. Marcheco Teruel; J.J. Llibre Rodriguez; N. Gomez Viera; I. Borrajero Martinez; E.A.W.F.M. Severijnen (Lies-Anne); M. Joosse (Marijke); C.M. van Duijn (Cock); L. Heredero-Baute; P. Heutink (Peter); A.M. Bertoli Avella (Aida)

    2002-01-01

    textabstractWe studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic epi

  2. Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux

    NARCIS (Netherlands)

    Eerde, A.M. van; Koeleman, B.P.C.; Kamp, J.M. van de; Jong, T.P.V.M. de; Wijmenga, C.; Giltay, J.C.

    2007-01-01

    Vesico-ureteral reflux (VUR) is a major contributing factor to end-stage renal disease in paediatric patients. Primary VUR is a familial disorder, but little is known about its genetic causes. To investigate the involvement of 12 functional candidate genes and two reported loci in VUR, we performed

  3. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

    Science.gov (United States)

    Ouechtati, Farah; Merdassi, Ahlem; Bouyacoub, Yosra; Largueche, Leila; Derouiche, Kaouther; Ouragini, Houyem; Nouira, Sonia; Tiab, Leila; Baklouti, Karim; Rebai, Ahmed; Schorderet, Daniel F; Munier, Francis L; Zografos, Leonidas; Abdelhak, Sonia; El Matri, Leila

    2011-01-01

    Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family. Ophthalmic evaluation included a full clinical examination, color vision testing and electroretinography. Linkage analysis using microsatellite markers flanking CNGA3, CNGB3, GNAT2 and PDE6C genes was performed. Mutations were screened by direct sequencing. A total of 12 individuals were diagnosed with congenital complete achromatopsia. They are members of six nuclear consanguineous families belonging to the same large consanguineous family. Linkage analysis revealed linkage to GNAT2. Mutational screening of GNAT2 revealed three intronic variations c.119-69G>C, c.161+66A>T and c.875-31G>C that co-segregated with a novel mutation p.R313X. An identical GNAT2 haplotype segregating with this mutation was identified, indicating a founder mutation. All patients were homozygous for the p.R313X mutation. This is the first report of the clinical and genetic investigation of complete achromatopsia in North Africa and the largest family with recessive achromatopsia involving GNAT2; thus, providing a unique opportunity for genotype-phenotype correlation for this extremely rare condition.

  4. Assessing the Causality Factors in the Association between (Abdominal) Obesity and Physical Activity among the Newfoundland Population—A Mendelian Randomization Analysis

    OpenAIRE

    Frank Barning; Taraneh Abarin

    2016-01-01

    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...

  5. An evaluation of the metabolic syndrome in a large multi-ethnic study: the Family Blood Pressure Program

    OpenAIRE

    Quertermous Thomas; Hsiung Chao; Turner Stephen T; Mosley Thomas H; Weder Alan B; Rao DC; Kraja Aldi T; Cooper Richard; Curb J David; Province Michael A

    2005-01-01

    Abstract Background The Family Blood Pressure Program is an ongoing, NHLBI-sponsored, multi-center program to study the genetic determinants of high blood pressure. The goal of this particular study was to study patterns of metabolic syndrome (MetS) in four ethnic groups: African Americans, Caucasians, Hispanics, and Asians. Methods A major part of participants in three networks GENOA, HyperGEN and SAPPHIRe were recruited mainly through hypertensive probands. MetS was defined as a categorical...

  6. 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.

  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 related

  9. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.

    Science.gov (United States)

    Li, M; Yang, L J; Hua, H-K; Zhu, X-H; Dai, X-Y

    2009-01-01

    Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.

  10. Chlamydophila pneumoniae HflX belongs to an uncharacterized family of conserved GTPases and associates with the Escherichia coli 50S large ribosomal subunit.

    Science.gov (United States)

    Polkinghorne, Adam; Ziegler, Urs; González-Hernández, Yanela; Pospischil, Andreas; Timms, Peter; Vaughan, Lloyd

    2008-11-01

    Predicted members of the HflX subfamily of phosphate-binding-loop guanosine triphosphatases (GTPases) are widely distributed in the bacterial kingdom but remain virtually uncharacterized. In an attempt to understand mechanisms used for regulation of growth and development in the chlamydiae, obligate intracellular and developmentally complex bacteria, we have begun investigations into chlamydial GTPases; we report here what appears to be the first analysis of a HflX family GTPase using a predicted homologue from Chlamydophila pneumoniae. In agreement with phylogenetic predictions for members of this GTPase family, purified recombinant Cp. pneumoniae HflX was specific for guanine nucleotides and exhibited a slow intrinsic GTPase activity when incubated with [gamma-(32)P]GTP. Using HflX-specific monoclonal antibodies, HflX could be detected by Western blotting and high-resolution confocal microscopy throughout the vegetative growth cycle of Cp. pneumoniae and, at early time points, appeared to partly localize to the membrane. Ectopic expression of Cp. pneumoniae HflX in Escherichia coli revealed co-sedimentation of HflX with the E. coli 50S large ribosomal subunit. The results of this work open up some intriguing possibilities for the role of GTPases belonging to this previously uncharacterized family of bacterial GTPases. Ribosome association is a feature shared by other important conserved GTPase families and more detailed investigations will be required to delineate the role of HflX in bacterial ribosome function.

  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. Topological properties of large-scale structural brain networks in children with familial risk for reading difficulties.

    Science.gov (United States)

    Hosseini, S M Hadi; Black, Jessica M; Soriano, Teresa; Bugescu, Nicolle; Martinez, Rociel; Raman, Mira M; Kesler, Shelli R; Hoeft, Fumiko

    2013-05-01

    Developmental dyslexia is a neurobiological deficit characterized by persistent difficulty in learning to read in children and adults who otherwise possess normal intelligence. Functional and structural connectivity data suggest that developmental dyslexia could be a disconnection syndrome. However, whether abnormalities in connectivity exist in beginning readers at-risk for reading difficulties is unknown. Using graph-theoretical analysis, we investigated differences in global and regional topological properties of structural brain networks in 42 beginning readers with (FH+) and without (FH-) familial risk for reading difficulties. We constructed separate structural correlation networks based on measures of surface area and cortical thickness. Results revealed changes in topological properties in brain regions known to be abnormal in dyslexia (left supramarginal gyrus, left inferior frontal gyrus) in the FH+ group mainly in the network constructed from measures of cortical surface area. We also found alterations in topological properties in regions that are not often advertised as dyslexia but nonetheless play important role in reading (left posterior cingulate, hippocampus, and left precentral gyrus). To our knowledge, this is the first report of altered topological properties of structural correlation networks in children at risk for reading difficulty, and motivates future studies that examine the mechanisms underlying how these brain networks may mediate the influences of family history on reading outcome.

  13. 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.

  14. Selection and drift influence genetic differentiation of insular Canada lynx (Lynx canadensis) on Newfoundland and Cape Breton Island.

    Science.gov (United States)

    Prentice, Melanie B; Bowman, Jeff; Khidas, Kamal; Koen, Erin L; Row, Jeffrey R; Murray, Dennis L; Wilson, Paul J

    2017-05-01

    Island populations have long been important for understanding the dynamics and mechanisms of evolution in natural systems. While genetic drift is often strong on islands due to founder events and population bottlenecks, the strength of selection can also be strong enough to counteract the effects of drift. Here, we used several analyses to identify the roles of genetic drift and selection on genetic differentiation and diversity of Canada lynx (Lynx canadensis) across eastern Canada, including the islands of Cape Breton and Newfoundland. Specifically, we assessed whether we could identify a genetic component to the observed morphological differentiation that has been reported across insular and mainland lynx. We used a dinucleotide repeat within the promoter region of a functional gene that has been linked to mammalian body size, insulin-like growth factor-1 (IGF-1). We found high genetic differentiation at neutral molecular markers but convergence of allele frequencies at the IGF-1 locus. Thus, we showed that while genetic drift has influenced the observed genetic structure of lynx at neutral molecular markers, natural selection has also played a role in the observed patterns of genetic diversity at the IGF-1 locus of insular lynx.

  15. Geophysical fingerprints of hyper-extended, exhumed and embryonic oceanic domains: the example from the Iberia-Newfoundland rifted margins

    Science.gov (United States)

    Stanton, Natasha; Manatschal, Gianreto; Autin, Julia; Sauter, Daniel; Maia, Marcia; Viana, Adriano

    2016-09-01

    This study investigates the magnetic and gravity signatures and associated seismic character of hyper-extended, exhumed and embryonic oceanic domains along the conjugate Iberia-Newfoundland rifted margins. As these margins have been drilled down to basement along their distal parts, it is possible to explore and test different geophysical techniques and interpretations. The aims of this work are twofold: (1) to investigate the location and nature of the two main marginal boundaries—the necking zone and the J Anomaly, which define the limits of major domains; and (2) to map the lateral variations of gravity and magnetic signatures and their detailed correlation with seismic data, from the proximal margin until the first unequivocal oceanic magnetic anomaly (e.g. C34 Anomaly). The results point out that the J Anomaly corresponds to a first-order tectono-magmatic boundary, with a basement formed by polyphase magmatism. It marks the boundary between the exhumed mantle domain, with little magmatic additions, from a domain oceanwards that reveals comparable trends, frequencies and a general magnetic pattern at both sides of the Atlantic, suggesting a coeval evolution. We propose that the domain between the J and the C34 Anomalies was formed by an embryonic spreading system, with intermittent budgets of magma, similar to those observed at very slow spreading systems. The J Anomaly may thus correspond to the location of lithospheric breakup though its origin and the nature of the domain oceanwards remains to be constrained.

  16. A preliminary investigation into diet adequacy in senior residents of Newfoundland and Labrador, Canada: a cross-sectional study.

    Science.gov (United States)

    Yan, Jing; Liu, Lin; Roebothan, Barbara; Ryan, Ann; Chen, Zhi; Yi, Yanqing; Wang, Peizhong

    2014-04-02

    Adequate dietary intake is essential to maintain good health. This is particularly true for the elderly. This study investigated the dietary intakes of seniors residing in Newfoundland and Labrador (NL) and assessed the adequacy of nutrients which they consumed as food. Between November 2012 and January 2013, we recruited senior residents in NL, aged 65 years or older Participants were required to complete two questionnaires, one food-frequency questionnaire (FFQ) and one general health questionnaire (GHQ). Macro- and micro- nutrients in foods consumed were estimated using the Elizabeth Stewart Hands and Associations (ESHA) nutrient analysis software. The nutrient intakes were compared with appropriate components of the dietary reference intakes (DRIs) adopted by Health Canada to determine adequacy. Various descriptive statistical analyses were performed using SPSS. One hundred-and-eleven participants (69 females and 42 males) completed the surveys and were included in the analysis. A considerable portion of subjects were overweight (41.7%) or obese (25%), and had at least one chronic illness (86.5%). Many seniors studied did not meet the daily recommendations for dietary intakes of nutrients supported by Health Canada, notably vitamin E (84.7%) and vitamin D (68.5%). Our study also suggests that about 40% of participants consumed more dietary energy as fat than is recommended. The present study revealed an inadequate consumption of essential nutrients from foods in a noninstitutionalized senior population of NL.

  17. 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

    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...... a single polypeptide chain of 105 kDa (SDS-PAGE) and pI 4.3. Sequence analysis of tryptic fragments, prepared from 2-vinylpyridinylated LD and purified by RP-HPLC, identified short motifs recognized in b-strand 2, 3, and 5 characteristic of a catalytic (b/a)8-barrel domain of the a-amylase family...

  18. 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

    suspected to have JPS. RESULTS: By direct sequencing of the two genes, point mutations were identified in 30 patients (46% of typical JPS). Using MLPA, large genomic deletions were found in 14% of all patients with typical JPS (six deletions in SMAD4 and three deletions in BMPR1A). Mutation analysis...... polyposis, gastric cancer, and HHT was identified, which should have implications for counselling and surveillance. Histopathological results in hamartomatous polyposis syndromes must be critically interpreted. Udgivelsesdato: 2007-Nov...

  19. 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 ovarian...... cancer patients in whom a deleterious mutation in BRCA1 and BRCA2 was not detected by sequencing using the multiplex ligation-dependent probe amplification (MLPA) assay. We identified 15 patients with 7 different genomic rearrangements, including a BRCA1 exon 5-7 deletion with a novel breakpoint, a BRCA1...... exon 13 duplication, a BRCA1 exon 17-19 deletion, a BRCA1 exon 3-16 deletion, and a BRCA2 exon 20 deletion with a novel breakpoint as well as two novel BRCA1 exon 17-18 and BRCA1 exon 19 deletions. The large rearrangements in BRCA1 and BRCA2 accounted for 9.2% (15/163) of all BRCA1 and BRCA2 mutations...

  20. 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

    2010-01-01

    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. PMID:20585974

  1. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

    Directory of Open Access Journals (Sweden)

    Cockerham John

    2008-10-01

    Full Text Available Abstract Background Ellis-van Creveld (EvC syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC. The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance. Methods Because of the phenotypic overlap with EvC, microsatellite markers were used to test for linkage to the EVC/EVC2 locus. The results did not exclude linkage, so samples were sequenced for mutations. Results We identified a c.1868T>C mutation in EVC, which predicts p.L623P, and was homozygous in affected individuals. Conclusion We conclude that this EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical EvC. EVC mutation analysis should be considered in patients with cardiac and limb malformations, even if they do not manifest typical EvC syndrome.

  2. Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

    Science.gov (United States)

    Sparrow, Duncan B; Faqeih, Eissa Ali; Sallout, Bahauddin; Alswaid, Abdulrahman; Ababneh, Faroug; Al-Sayed, Moeenaldeen; Rukban, Hadeel; Eyaid, Wafaa M; Kageyama, Ryoichiro; Ellard, Sian; Turnpenny, Peter D; Dunwoodie, Sally L

    2013-09-01

    Spondylocostal dysotosis (SCD) is a rare developmental congenital abnormality of the axial skeleton. Mutation of genes in the Notch signaling pathway cause SCD types 1-5. Dextrocardia with situs inversus is a rare congenital malformation in which the thoracic and abdominal organs are mirror images of normal. Such laterality defects are associated with gene mutations in the Nodal signaling pathway or cilia assembly or function. We investigated two distantly related individuals with a rare combination of severe segmental defects of the vertebrae (SDV) and dextrocardia with situs inversus. We found that both individuals were homozygous for the same mutation in HES7, and that this mutation caused a significant reduction of HES7 protein function; HES7 mutation causes SCD4. Two other individuals with SDV from two unrelated families were found to be homozygous for the same mutation. Interestingly, although the penetrance of the vertebral defects was complete, only 3/7 had dextrocardia with situs inversus, suggesting randomization of left-right patterning. Two of the affected individuals presented with neural tube malformations including myelomeningocele, spina bifida occulta and/or Chiari II malformation. Such neural tube phenotypes are shared with the originally identified SCD4 patient, but have not been reported in the other forms of SCD. In conclusion, it appears that mutation of HES7 is uniquely associated with defects in vertebral, heart and neural tube formation, and this observation will help provide a discriminatory diagnostic guide in patients with SCD, as well as inform molecular genetic testing.

  3. The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis.

    Science.gov (United States)

    Kim, June-Bum; Kim, Sung-Jo; Kang, Sun-Yang; Yi, Jin Woong; Kim, Seung-Min

    2014-10-01

    Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium channel gene, SCN4A, have been found to be responsible for HOKPP; however, the mechanism that causes hypokalemia remains to be determined. The aim of this study was to improve the understanding of this mechanism by investigating the expression of calcium-activated potassium (KCa) channel genes in HOKPP patients. We measured the intracellular calcium concentration with fura-2-acetoxymethyl ester in skeletal muscle cells of HOKPP patients and healthy individuals. We examined the mRNA and protein expression of KCa channel genes (KCNMA1, KCNN1, KCNN2, KCNN3, and KCNN4) in both cell types. Patient cells exhibited higher cytosolic calcium levels than normal cells. Quantitative reverse transcription polymerase chain reaction analysis showed that the mRNA levels of the KCa channel genes did not significantly differ between patient and normal cells. However, western blot analysis showed that protein levels of the KCNMA1 gene, which encodes KCa1.1 channels (also called big potassium channels), were significantly lower in the membrane fraction and higher in the cytosolic fraction of patient cells than normal cells. When patient cells were exposed to 50 mM potassium buffer, which was used to induce depolarization, the altered subcellular distribution of BK channels remained unchanged. These findings suggest a novel mechanism for the development of hypokalemia and paralysis in HOKPP and demonstrate a connection between disease-associated mutations in calcium/sodium channels and pathogenic changes in nonmutant potassium channels.

  4. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

    Science.gov (United States)

    Aharoni, Sharon; Barwick, Katy E S; Straussberg, Rachel; Harlalka, Gaurav V; Nevo, Yoram; Chioza, Barry A; McEntagart, Meriel M; Mimouni-Bloch, Aviva; Weedon, Michael; Crosby, Andrew H

    2016-11-16

    CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation. An Illumina Human CytoSNP-12 array followed by whole exome sequence analysis was used to identify the disease associated gene mutation in a large consanguineous family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT-2) from which all but one affected member had straight hair. Here we report the identification of a novel GAN missense mutation underlying the CMT-2 phenotype observed in this family. Although milder forms of GAN, with and without the presence of kinky hair have been reported previously, a phenotype distinct from that was investigated in this study. All family members lacked common features of GAN, including ataxia, nystagmus, intellectual disability, seizures, and central nervous system involvement. Our findings broaden the spectrum of phenotypes associated with GAN mutations and emphasize a need to proceed with caution when providing families with diagnostic or prognostic information based on either clinical or genetic findings alone.

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

    Institute of Scientific and Technical Information of China (English)

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

    2011-01-01

    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.

  6. Molecular analysis of a large subtelomeric nucleotide-binding-site-leucine-rich-repeat family in two representative genotypes of the major gene pools of Phaseolus vulgaris.

    Science.gov (United States)

    Geffroy, Valérie; Macadré, Catherine; David, Perrine; Pedrosa-Harand, Andrea; Sévignac, Mireille; Dauga, Catherine; Langin, Thierry

    2009-02-01

    In common bean, the B4 disease resistance gene cluster is a complex cluster localized at the end of linkage group (LG) B4, containing at least three R specificities to the fungus Colletotrichum lindemuthianum. To investigate the evolution of this R cluster since the divergence of Andean and Mesoamerican gene pools, DNA sequences were characterized from two representative genotypes of the two major gene pools of common bean (BAT93: Mesoamerican; JaloEEP558: Andean). Sequences encoding 29 B4-CC nucleotide-binding-site-leucine-rich-repeat (B4-CNL) genes were determined-12 from JaloEEP558 and 17 from BAT93. Although sequence exchange events were identified, phylogenetic analyses revealed that they were not frequent enough to lead to homogenization of B4-CNL sequences within a haplotype. Genetic mapping based on pulsed-field gel electrophoresis separation confirmed that the B4-CNL family is a large family specific to one end of LG B4 and is present at two distinct blocks separated by 26 cM. Fluorescent in situ hybridization on meiotic pachytene chromosomes revealed that two B4-CNL blocks are located in the subtelomeric region of the short arm of chromosome 4 on both sides of a heterochromatic block (knob), suggesting that this peculiar genomic environment may favor the proliferation of a large R gene cluster.

  7. Molecular Analysis of a Large Subtelomeric Nucleotide-Binding-Site–Leucine-Rich-Repeat Family in Two Representative Genotypes of the Major Gene Pools of Phaseolus vulgaris

    Science.gov (United States)

    Geffroy, Valérie; Macadré, Catherine; David, Perrine; Pedrosa-Harand, Andrea; Sévignac, Mireille; Dauga, Catherine; Langin, Thierry

    2009-01-01

    In common bean, the B4 disease resistance (R) gene cluster is a complex cluster localized at the end of linkage group (LG) B4, containing at least three R specificities to the fungus Colletotrichum lindemuthianum. To investigate the evolution of this R cluster since the divergence of Andean and Mesoamerican gene pools, DNA sequences were characterized from two representative genotypes of the two major gene pools of common bean (BAT93: Mesoamerican; JaloEEP558: Andean). Sequences encoding 29 B4-CC nucleotide-binding-site–leucine-rich-repeat (B4-CNL) genes were determined—12 from JaloEEP558 and 17 from BAT93. Although sequence exchange events were identified, phylogenetic analyses revealed that they were not frequent enough to lead to homogenization of B4-CNL sequences within a haplotype. Genetic mapping based on pulsed-field gel electrophoresis separation confirmed that the B4-CNL family is a large family specific to one end of LG B4 and is present at two distinct blocks separated by 26 cM. Fluorescent in situ hybridization on meiotic pachytene chromosomes revealed that two B4-CNL blocks are located in the subtelomeric region of the short arm of chromosome 4 on both sides of a heterochromatic block (knob), suggesting that this peculiar genomic environment may favor the proliferation of a large R gene cluster. PMID:19087965

  8. An evaluation of the metabolic syndrome in a large multi-ethnic study: the Family Blood Pressure Program

    Directory of Open Access Journals (Sweden)

    Quertermous Thomas

    2005-08-01

    Full Text Available Abstract Background The Family Blood Pressure Program is an ongoing, NHLBI-sponsored, multi-center program to study the genetic determinants of high blood pressure. The goal of this particular study was to study patterns of metabolic syndrome (MetS in four ethnic groups: African Americans, Caucasians, Hispanics, and Asians. Methods A major part of participants in three networks GENOA, HyperGEN and SAPPHIRe were recruited mainly through hypertensive probands. MetS was defined as a categorical trait following the National Cholesterol Education Program definition (c-MetS. MetS was also characterized quantitatively through multivariate factor analyses (FA of 10 risk variables (q-MetS. Logistic regression and frequency tables were used for studying associations among traits. Results Using the NCEP definition, the Hispanic sample, which by design was enriched for type 2 diabetes (T2D, had a very high prevalence of MetS (73%. In contrast, its prevalence in Chinese was the lowest (17%. In African Americans and Hispanics, c-MetS was more prevalent in women than in men. Association of c-MetS with type 2 diabetes (T2D was prominent in the Hispanics and African Americans, less pronounced in the Whites and Japanese, (although still significant, and weakest in the Chinese sample. Using FA without rotation, we found that the main factor loaded obesity (OBS and blood pressure (BP in African Americans; OBS and insulin (INS in Hispanics, in Japanese, and in Whites; and OBS alone in Chinese. In Hispanics, Whites, and Japanese, BP loaded as a separate factor. Lipids in combination with INS also loaded in a separate factor. Using FA with Varimax rotation, 4 independent factors were identified: "Obesity-INS," "Blood pressure," "Lipids-INS," and "Central obesity." They explained about 60% of the variance present in the original risk variables. Conclusion MetS ethnic differences were identified. Ascertaining for hypertension or T2D increased the MetS prevalence in

  9. Structure, transport, and vertical coherence of the Gulf Stream from the Straits of Florida to the Southeast Newfoundland Ridge

    Science.gov (United States)

    Meinen, Christopher S.; Luther, Douglas S.

    2016-06-01

    Data from three independent and extensive field programs in the Straits of Florida, the Mid-Atlantic Bight, and near the Southeast Newfoundland Ridge are reanalyzed and compared with results from other historical studies to highlight the downstream evolution of several characteristics of the Gulf Stream's mean flow and variability. The three locations represent distinct dynamical regimes: a tightly confined jet in a channel; a freely meandering jet; and a topographically controlled jet on a boundary. Despite these differing dynamical regimes, the Gulf Stream in these areas exhibits many similarities. There are also anticipated and important differences, such as the loss of the warm core of the current by 42°N and the decrease in the cross-frontal gradient of potential vorticity as the current flows northward. As the Gulf Stream evolves it undergoes major changes in transport, both in magnitude and structure. The rate of inflow up to 60°W and outflow thereafter are generally uniform, but do exhibit some remarkable short-scale variations. As the Gulf Stream flows northward the vertical coherence of the flow changes, with the Florida Current and North Atlantic Current segments of the Gulf Stream exhibiting distinct upper and deep flows that are incoherent, while in the Mid-Atlantic Bight the Gulf Stream exhibits flows in three layers each of which tends to be incoherent with the other layers at most periods. These coherence characteristics are exhibited in both Eulerian and stream coordinates. The observed lack of vertical coherence indicates that great caution must be exercised in interpreting proxies for Gulf Stream structure and flow from vertically-limited or remote observations.

  10. Unsupervised Wishart Classfication of Wetlands in Newfoundland, Canada Using Polsar Data Based on Fisher Linear Discriminant Analysis

    Science.gov (United States)

    Mohammadimanesh, F.; Salehi, B.; Mahdianpari, M.; Homayouni, S.

    2016-06-01

    Polarimetric Synthetic Aperture Radar (PolSAR) imagery is a complex multi-dimensional dataset, which is an important source of information for various natural resources and environmental classification and monitoring applications. PolSAR imagery produces valuable information by observing scattering mechanisms from different natural and man-made objects. Land cover mapping using PolSAR data classification is one of the most important applications of SAR remote sensing earth observations, which have gained increasing attention in the recent years. However, one of the most challenging aspects of classification is selecting features with maximum discrimination capability. To address this challenge, a statistical approach based on the Fisher Linear Discriminant Analysis (FLDA) and the incorporation of physical interpretation of PolSAR data into classification is proposed in this paper. After pre-processing of PolSAR data, including the speckle reduction, the H/α classification is used in order to classify the basic scattering mechanisms. Then, a new method for feature weighting, based on the fusion of FLDA and physical interpretation, is implemented. This method proves to increase the classification accuracy as well as increasing between-class discrimination in the final Wishart classification. The proposed method was applied to a full polarimetric C-band RADARSAT-2 data set from Avalon area, Newfoundland and Labrador, Canada. This imagery has been acquired in June 2015, and covers various types of wetlands including bogs, fens, marshes and shallow water. The results were compared with the standard Wishart classification, and an improvement of about 20% was achieved in the overall accuracy. This method provides an opportunity for operational wetland classification in northern latitude with high accuracy using only SAR polarimetric data.

  11. UNSUPERVISED WISHART CLASSFICATION OF WETLANDS IN NEWFOUNDLAND, CANADA USING POLSAR DATA BASED ON FISHER LINEAR DISCRIMINANT ANALYSIS

    Directory of Open Access Journals (Sweden)

    F. Mohammadimanesh

    2016-06-01

    Full Text Available Polarimetric Synthetic Aperture Radar (PolSAR imagery is a complex multi-dimensional dataset, which is an important source of information for various natural resources and environmental classification and monitoring applications. PolSAR imagery produces valuable information by observing scattering mechanisms from different natural and man-made objects. Land cover mapping using PolSAR data classification is one of the most important applications of SAR remote sensing earth observations, which have gained increasing attention in the recent years. However, one of the most challenging aspects of classification is selecting features with maximum discrimination capability. To address this challenge, a statistical approach based on the Fisher Linear Discriminant Analysis (FLDA and the incorporation of physical interpretation of PolSAR data into classification is proposed in this paper. After pre-processing of PolSAR data, including the speckle reduction, the H/α classification is used in order to classify the basic scattering mechanisms. Then, a new method for feature weighting, based on the fusion of FLDA and physical interpretation, is implemented. This method proves to increase the classification accuracy as well as increasing between-class discrimination in the final Wishart classification. The proposed method was applied to a full polarimetric C-band RADARSAT-2 data set from Avalon area, Newfoundland and Labrador, Canada. This imagery has been acquired in June 2015, and covers various types of wetlands including bogs, fens, marshes and shallow water. The results were compared with the standard Wishart classification, and an improvement of about 20% was achieved in the overall accuracy. This method provides an opportunity for operational wetland classification in northern latitude with high accuracy using only SAR polarimetric data.

  12. Anomalous Heat Flow and Basement Depth in the Newfoundland Basin Ocean-Continent Transiton Compared With the Iberia Abyssal Plain Conjugate

    Science.gov (United States)

    Louden, K.; Lau, H.

    2004-05-01

    A total of 30 new heat flow stations were taken in the Newfoundland Basin, in conjunction with seismic reflection and refraction profiles of the SCREECH and MARIPROBE programs, in order to constrain its lithospheric thermal structure. This was the first use of a new heat flow probe that allows high resolution sampling from up to 48 thermistors over a 4-6-m long sensor string, although only 24 sensors were used for these measurements. Data were taken at three multi-penetration sites: HF1 (12 stations) on oceanic crust seaward of magnetic anomaly M0 along Line 1 (SE of Flemish Cap); and HF2 (12 stations) and HF3 (8 stations) on Line 3 (NW of the Newfoundland Seamounts) on thin oceanic crust landward of the J-anomaly (HF2) and on thin continental crust within the ocean-continent transition (HF3). Temperature gradients are linear at all sites except within the uppermost 1 m at site HF2, where there is evidence for recent variations in bottom water temperature. Average thermal conductivity is very uniform at 0.88±0.8 W/m-K (HF1 and HF2) and 0.85±0.4 W/m-K (HF3). Mean heat flow values are similar at HF1 (57.5±2.1 mW/m2) and HF3 (58.4±2.7 mW/m2) and lower at HF2 (49.5±1.0 mW/m2). Values of heat flow versus sediment-corrected basement depth are consistent with the lithospheric thermal model GDH1 of Stein and Stein (1992) and the expected age at HF2 (130 Ma), but they are 20-50 my younger than expected for HF1 and HF3. In comparison to plots of heat flow and basement depth for the Iberia Abyssal Plain, the Newfoundland Basin shows a significant anomaly in both basement depth (~500-800 m shallower) and heat flow (5-18 mW/m2 higher). The heat flow results indicate that differences in basement depth between these conjugate basins are compensated by significant differences in lithospheric thermal structure and not by differences in shallow crustal structure. The recent discovery of lower Albian diabase sills beneath the Newfoundland Basin at ODP Site 1276, might indicate

  13. Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene.

    Science.gov (United States)

    Verstreken, M; Declau, F; Wuyts, F L; D'Haese, P; Van Camp, G; Fransen, E; Van den Hauwe, L; Buyle, S; Smets, R E; Feenstra, L; Van der Stappen, A; Van de Heyning, P H

    2001-11-01

    To report the clinical, auditory, and vestibular characteristics of a nonsyndromic otovestibular dysfunction in a large Belgian family caused by a missense mutation of the DFNA9 gene: COCH. Retrospective study of the clinical, audiologic, and vestibular data of 60 genetically affected cases. Tertiary referral center. All members of a Belgian kindred who carry the genetic (P51S) defect linked to the inherited hearing and vestibular impairment. Diagnostic otologic, audiometric, and vestibular analysis and imaging. Pure tone audiometry, supraliminary audiometry. and vestibular investigation. The autosomal dominant inherited impairment was characterized by peripheral degeneration of the inner ear, leading to total deafness and bilateral vestibular areflexia. The genetically affected persons of a Belgian family shared a progressive sensorineural hearing loss starting between the third and sixth decade. Vestibular symptoms started at about the same age as the hearing loss. The vestibular symptoms consisted of instability in darkness, a tendency to fall sideways, light-headiness, a drunken feeling, and attacks of vertigo. Most of the patients reported tinnitus, and half of them reported pressure in the ears. Clinically, 9 of the 60 patients met the criteria for definite Ménière's disease, and another 13 and 17 patients met the criteria for probable or possible Ménière's disease, respectively. All 9 were older than the age of 35, but only 1 was older than 55 years, so more than 30% of the patients were between 35 and 55 years old. A specific pattern could be recognized in the evolution of the otovestibular impairment. Under the age of 35 years, almost all the affected family members had normal hearing, whereas above the age of 55 years, the hearing loss was at least moderate, and vestibular hypofunction occurred. In between, there was a transition period of two to three decades, when deterioration of the cochleovestibular function occurred, with a temporary audiometric

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

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    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.

  15. Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.

    Science.gov (United States)

    Al-Owain, M; Wakil, S; Shareef, F; Al-Fatani, A; Hamadah, E; Haider, M; Al-Hindi, H; Awaji, A; Khalifa, O; Baz, B; Ramadhan, R; Meyer, B

    2011-07-01

    Desmoplakin is an important cytoskeletal linker for the function of the desmosomes. Linking desmoplakin to certain types of cardiocutaneous syndromes has been a hot topic recently. Skin fragility-woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). We report five members from a large family with skin fragility-woolly hair syndrome. The index is a 14-year-old girl with palmoplantar keratoderma, woolly hair, variable alopecia, dystrophic nails, and excessive blistering to trivial mechanical trauma. No cardiac symptoms were reported. Although formal cardiac examination was not feasible, the echocardiographic evaluation of the other two affected younger siblings was normal. Homozygosity mapping and linkage analysis revealed a high LOD score region in the short arm of chromosome 6 that harbors the DSP. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all affected members, and the parents were heterozygous. This is the report of the third case/family of the skin fragility-woolly hair syndrome in the literature. We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy. The complexity of the desmoplakin and its variable presentations warrant introducing the term 'desmoplakinopathies' to describe all the phenotypes related to defects in the desmoplakin.

  16. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.

    Science.gov (United States)

    Eytan, O; Sarig, O; Israeli, S; Mevorah, B; Basel-Vanagaite, L; Sprecher, E

    2014-03-01

    Palmoplantar keratoderma punctata (PPKP) is a heterogeneous group of disorders characterized by hyperkeratotic papules occurring over the palms and soles during adolescence. PPKP type 1, also known as PPKP Buschke-Fischer-Brauer type, was recently found to result from mutations in the AAGAB gene, encoding the p34 protein. PPKP type 1 is usually not associated with extracutaneous features. To investigate a large family in which PPKP1 was present in association with congenital dysplasia of the hip (CDH). A combination of direct sequencing of candidate genes and reverse-transcription PCR was used to identify the molecular basis underlying the clinical features displayed by the patients. Direct sequencing showed a novel intronic mutation in AAGAB, which was found to cosegregate with PPKP and CDH throughout the family. The mutation was found to result in aberrant RNA splicing, leading to exon 4 skipping. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. © 2013 British Association of Dermatologists.

  17. ProfileGrids as a new visual representation of large multiple sequence alignments: a case study of the RecA protein family

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    Abajian Aaron C

    2008-12-01

    Full Text Available Abstract Background Multiple sequence alignments are a fundamental tool for the comparative analysis of proteins and nucleic acids. However, large data sets are no longer manageable for visualization and investigation using the traditional stacked sequence alignment representation. Results We introduce ProfileGrids that represent a multiple sequence alignment as a matrix color-coded according to the residue frequency occurring at each column position. JProfileGrid is a Java application for computing and analyzing ProfileGrids. A dynamic interaction with the alignment information is achieved by changing the ProfileGrid color scheme, by extracting sequence subsets at selected residues of interest, and by relating alignment information to residue physical properties. Conserved family motifs can be identified by the overlay of similarity plot calculations on a ProfileGrid. Figures suitable for publication can be generated from the saved spreadsheet output of the colored matrices as well as by the export of conservation information for use in the PyMOL molecular visualization program. We demonstrate the utility of ProfileGrids on 300 bacterial homologs of the RecA family – a universally conserved protein involved in DNA recombination and repair. Careful attention was paid to curating the collected RecA sequences since ProfileGrids allow the easy identification of rare residues in an alignment. We relate the RecA alignment sequence conservation to the following three topics: the recently identified DNA binding residues, the unexplored MAW motif, and a unique Bacillus subtilis RecA homolog sequence feature. Conclusion ProfileGrids allow large protein families to be visualized more effectively than the traditional stacked sequence alignment form. This new graphical representation facilitates the determination of the sequence conservation at residue positions of interest, enables the examination of structural patterns by using residue physical

  18. The vertebrate makorin ubiquitin ligase gene family has been shaped by large-scale duplication and retroposition from an ancestral gonad-specific, maternal-effect gene

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    Volff Jean-Nicolas

    2010-12-01

    Full Text Available Abstract Background Members of the makorin (mkrn gene family encode RING/C3H zinc finger proteins with U3 ubiquitin ligase activity. Although these proteins have been described in a variety of eukaryotes such as plants, fungi, invertebrates and vertebrates including human, almost nothing is known about their structural and functional evolution. Results Via partial sequencing of a testis cDNA library from the poeciliid fish Xiphophorus maculatus, we have identified a new member of the makorin gene family, that we called mkrn4. In addition to the already described mkrn1 and mkrn2, mkrn4 is the third example of a makorin gene present in both tetrapods and ray-finned fish. However, this gene was not detected in mouse and rat, suggesting its loss in the lineage leading to rodent murids. Mkrn2 and mkrn4 are located in large ancient duplicated regions in tetrapod and fish genomes, suggesting the possible involvement of ancestral vertebrate-specific genome duplication in the formation of these genes. Intriguingly, many mkrn1 and mkrn2 intronless retrocopies have been detected in mammals but not in other vertebrates, most of them corresponding to pseudogenes. The nature and number of zinc fingers were found to be conserved in Mkrn1 and Mkrn2 but much more variable in Mkrn4, with lineage-specific differences. RT-qPCR analysis demonstrated a highly gonad-biased expression pattern for makorin genes in medaka and zebrafish (ray-finned fishes and amphibians, but a strong relaxation of this specificity in birds and mammals. All three mkrn genes were maternally expressed before zygotic genome activation in both medaka and zebrafish early embryos. Conclusion Our analysis demonstrates that the makorin gene family has evolved through large-scale duplication and subsequent lineage-specific retroposition-mediated duplications in vertebrates. From the three major vertebrate mkrn genes, mkrn4 shows the highest evolutionary dynamics, with lineage-specific loss of zinc

  19. Infectious, atopic and inflammatory diseases, childhood adversities and familial aggregation are independently associated with the risk for mental disorders: Results from a large Swiss epidemiological study.

    Science.gov (United States)

    Ajdacic-Gross, Vladeta; Aleksandrowicz, Aleksandra; Rodgers, Stephanie; Mutsch, Margot; Tesic, Anja; Müller, Mario; Kawohl, Wolfram; Rössler, Wulf; Seifritz, Erich; Castelao, Enrique; Strippoli, Marie-Pierre F; Vandeleur, Caroline; von Känel, Roland; Paolicelli, Rosa; Landolt, Markus A; Witthauer, Cornelia; Lieb, Roselind; Preisig, Martin

    2016-12-22

    To examine the associations between mental disorders and infectious, atopic, inflammatory diseases while adjusting for other risk factors. We used data from PsyCoLaus, a large Swiss Population Cohort Study (n = 3720; age range 35-66). Lifetime diagnoses of mental disorders were grouped into the following categories: Neurodevelopmental, anxiety (early and late onset), mood and substance disorders. They were regressed on infectious, atopic and other inflammatory diseases adjusting for sex, educational level, familial aggregation, childhood adversities and traumatic experiences in childhood. A multivariate logistic regression was applied to each group of disorders. In a complementary analysis interactions with sex were introduced via nested effects. Associations with infectious, atopic and other chronic inflammatory diseases were observable together with consistent effects of childhood adversities and familial aggregation, and less consistent effects of trauma in each group of mental disorders. Streptococcal infections were associated with neurodevelopmental disorders (men), and measles/mumps/rubella-infections with early and late anxiety disorders (women). Gastric inflammatory diseases took effect in mood disorders (both sexes) and in early disorders (men). Similarly, irritable bowel syndrome was prominent in a sex-specific way in mood disorders in women, and, moreover, was associated with early and late anxiety disorders. Atopic diseases were associated with late anxiety disorders. Acne (associations with mood disorders in men) and psoriasis (associations with early anxiety disorders in men and mood disorders in women) contributed sex-specific results. Urinary tract infections were associated with mood disorders and, in addition, in a sex-specific way with late anxiety disorders (men), and neurodevelopmental and early anxiety disorders (women). Infectious, atopic and inflammatory diseases are important risk factors for all groups of mental disorders. The sexual

  20. A Single Nucleotide Variant in HNF-1β is associated with Ma¬turity-Onset Diabetes of the Young in a Large Chinese Family

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    Peng ZHOU

    2016-02-01

    Full Text Available Background: Maturity-onset diabetes of the young (MODY is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported. Methods: To help the overall understanding of MODY-related pathologic mutations, we studied a large MODY family found in 2012, in Shandong, China, which contained 9 patients over 3 generations.DNA was extracted from the periphery blood samples of (i 9 affected members, (ii 17 unaffected members, and (iii 1000 healthy controls. Three pooled samples were obtained by mixing equal quantity ofDNA of each individual within the each group. Totally 400 microsatellite markers across the whole genome were genotyped by capillary electrophoresis. The known MODY-related gene near the identified marker was sequenced to look for putative risk variants.Results: Allelic frequency of marker D17S798 on chromosome 17q11.2 were significantly different (P<0.001 between the affected vs. unaffected members and the affected vs. healthy controls, but not between the unaffected members vs. healthy controls. MODY5-related gene, hepatocyte nuclear factor-1β (HNF-1β on 17q12 near D17S798 became the candidate gene. A single nucleotide variant (SNV of C77T in the non-coding area of exon 1 of HNF-1β was found to be related to MODY5. Conclusion: This novel SNV of HNF-1β contributes to the diabetes development in the family through regulating gene expression most likely. The findings help presymptomatic diagnosis, and imply that mutations in the non-coding areas, as well as in the exons, play roles in the etiology of MODY. Keywords: Maturity-onset diabetes of the young (MODY, Maturity-onset diabetes of the young type 5 (MODY5, Hepatic nuclear factor 1 beta (HNF1β

  1. Crizotinib (PF-2341066) induces apoptosis due to downregulation of pSTAT3 and BCL-2 family proteins in NPM-ALK(+) anaplastic large cell lymphoma.

    Science.gov (United States)

    Hamedani, Farid Saei; Cinar, Munevver; Mo, Zhicheng; Cervania, Melissa A; Amin, Hesham M; Alkan, Serhan

    2014-04-01

    Nucleophosmin-anaplastic lymphoma kinase (NPM-ALK) is an aberrant fusion gene product with tyrosine kinase activity and is expressed in substantial subset of anaplastic large cell lymphomas (ALCL). It has been shown that NPM-ALK binds to and activates signal transducer and activator of transcription 3 (STAT3). Although NPM-ALK(+) ALCL overall shows a better prognosis, there is a sub-group of patients who relapses and is resistant to conventional chemotherapeutic regimens. NPM-ALK is a potential target for small molecule kinase inhibitors. Crizotinib (PF-2341066) is a small, orally bioavailable molecule that inhibits growth of tumors with ALK activity as shown in a subgroup of non-small lung cancer patients with EML4-ALK expression. In this study, we have investigated the in vitro effects of Crizotinib in ALCL cell line with NPM-ALK fusion. Crizotinib induced marked downregulation of STAT3 phosphorylation, which was associated with significant apoptotic cell death. Apoptosis induction was attributed to caspase-3 cleavage and marked downregulation of the Bcl-2 family of proteins including MCL-1. These findings implicate that Crizotinib has excellent potential to treat patients with NPM-ALK(+) ALCL through induction of apoptotic cell death and downregulation of major oncogenic proteins in this aggressive lymphoma.

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

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    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.

  3. Comparative analysis of P450 signature motifs EXXR and CXG in the large and diverse kingdom of fungi: identification of evolutionarily conserved amino acid patterns characteristic of P450 family.

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    Khajamohiddin Syed

    Full Text Available Cytochrome P450 monooxygenases (P450s are heme-thiolate proteins distributed across the biological kingdoms. P450s are catalytically versatile and play key roles in organisms primary and secondary metabolism. Identification of P450s across the biological kingdoms depends largely on the identification of two P450 signature motifs, EXXR and CXG, in the protein sequence. Once a putative protein has been identified as P450, it will be assigned to a family and subfamily based on the criteria that P450s within a family share more than 40% homology and members of subfamilies share more than 55% homology. However, to date, no evidence has been presented that can distinguish members of a P450 family. Here, for the first time we report the identification of EXXR- and CXG-motifs-based amino acid patterns that are characteristic of the P450 family. Analysis of P450 signature motifs in the under-explored fungal P450s from four different phyla, ascomycota, basidiomycota, zygomycota and chytridiomycota, indicated that the EXXR motif is highly variable and the CXG motif is somewhat variable. The amino acids threonine and leucine are preferred as second and third amino acids in the EXXR motif and proline and glycine are preferred as second and third amino acids in the CXG motif in fungal P450s. Analysis of 67 P450 families from biological kingdoms such as plants, animals, bacteria and fungi showed conservation of a set of amino acid patterns characteristic of a particular P450 family in EXXR and CXG motifs. This suggests that during the divergence of P450 families from a common ancestor these amino acids patterns evolve and are retained in each P450 family as a signature of that family. The role of amino acid patterns characteristic of a P450 family in the structural and/or functional aspects of members of the P450 family is a topic for future research.

  4. Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation.

    Science.gov (United States)

    Pelzer, N; Blom, D E; Stam, A H; Vijfhuizen, L S; Hageman, Atm; van Vliet, J A; Ferrari, M D; van den Maagdenberg, Amjm; Haan, J; Terwindt, G M

    2017-07-01

    Background Familial hemiplegic migraine (FHM) is a rare monogenic migraine subtype characterised by attacks associated with transient motor weakness. Clinical information is mainly based on reports of small families with only short follow-up. Here, we document a prospective 15-year follow-up of an extended family with FHM type 2. Patients and methods After diagnosing FHM in a patient with severe attacks associated with coma and fever, we identified eight more family members with FHM and one with possible FHM. All family members were prospectively followed for 15 years. In total 13 clinically affected and 21 clinically non-affected family members were genetically tested and repeatedly investigated. Results A novel p.Arg348Pro ATP1A2 mutation was found in 14 family members: 12 with clinical FHM, one with psychomotor retardation and possible FHM, and one without FHM features. In 9/12 (75%) family members with genetically confirmed FHM, attacks were severe, long-lasting, and often associated with impaired consciousness and fever. Such attacks were frequently misdiagnosed and treated as viral meningitis or stroke. Epilepsy was reported in three family members with FHM and in the one with psychomotor retardation and possible FHM. Ataxia was not observed. Conclusion FHM should be considered in patients with recurrent coma and fever.

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

    Energy Technology Data Exchange (ETDEWEB)

    Blenkinsopp, S.; Sergy, G. [Environment Canada, Dartmouth, NS (Canada). Conservation and Protection; Doe, K.; Wohlgeschaffen, G. [Environment Canada, Dartmouth, NS (Canada). Conservation and Protection; Li, K.; Fingas, M [Environment Canada, Ottawa, ON (Canada). Emergencies Science Div.

    1997-10-01

    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.

  6. Distribution and diversity of tunicates utilizing eelgrass as substrate in the western North Atlantic between 39° and 47° north latitude (New Jersey to Newfoundland)

    Science.gov (United States)

    Carman, M R; Colarusso, Phillip D; Nelson, Eric P; Grunden, David W; Wong, Melisa C; McKenzie, Cynthia; Matheson, Kyle; Davidson, Jeffrey G.; Fox, Sophia; Neckles, Hilary A.; Bayley, Holly; Schott, Stephen; Dijkstra, Jennifer A; Stewart-Clark, Sarah

    2016-01-01

    Seagrass meadows are ecologically important habitats that are declining globally at an accelerating rate due to natural and anthropogenic stressors. Their decline is a serious concern as this habitat provides many ecosystem services. Eelgrass (Zostera marina) is the dominant seagrass species in the western North Atlantic. It has recently been established that invasive tunicate species possibly threaten the health of eelgrass beds. Colonization of eelgrass leaves by tunicates can inhibit eelgrass growth and may cause shoot mortality. To document the distribution and diversity of tunicate species that attach to eelgrass in the western North Atlantic, we surveyed twenty-one eelgrass sites from New Jersey to Newfoundland. Eight species of tunicates were found to be colonizing eelgrass, of which 6 are considered invasive. Botrylloides violaceus and Botryllus schlosseri were most commonly attached to eelgrass, with B. schlosseri having the largest latitudinal range of any species. Tunicate faunas attached to eelgrass were less diverse north of Gloucester, Massachusetts, where individual survey sites exhibited two species at most and only 4 of the 8 species observed in this study. Percent tunicate cover on eelgrass tended to fall within the 1–25 range, with occasional coverage up to >75–100. Density of eelgrass was highly variable among sites, ranging from <1 to 820 shoots/m². The solitary tunicate Ciona intestinalis was only found on eelgrass at the highest latitude sampled, in Newfoundland, where it is a new invader. The tunicates observed in this study, both solitary and colonial, are viable when attached to eelgrass and pose a potential threat to overgrow and weaken seagrass shoots and reduce the sustainability of seagrass meadows.

  7. Medical history, lifestyle, family history, and occupational risk factors for diffuse large B-cell lymphoma: the InterLymph Non-Hodgkin Lymphoma Subtypes Project.

    Science.gov (United States)

    Cerhan, James R; Kricker, Anne; Paltiel, Ora; Flowers, Christopher R; Wang, Sophia S; Monnereau, Alain; Blair, Aaron; Dal Maso, Luigino; Kane, Eleanor V; Nieters, Alexandra; Foran, James M; Miligi, Lucia; Clavel, Jacqueline; Bernstein, Leslie; Rothman, Nathaniel; Slager, Susan L; Sampson, Joshua N; Morton, Lindsay M; Skibola, Christine F

    2014-08-01

    Although risk factors for diffuse large B-cell lymphoma (DLBCL) have been suggested, their independent effects, modification by sex, and association with anatomical sites are largely unknown. In a pooled analysis of 4667 cases and 22639 controls from 19 studies, we used stepwise logistic regression to identify the most parsimonious multivariate models for DLBCL overall, by sex, and for selected anatomical sites. DLBCL was associated with B-cell activating autoimmune diseases (odds ratio [OR] = 2.36, 95% confidence interval [CI] = 1.80 to 3.09), hepatitis C virus seropositivity (OR = 2.02, 95% CI = 1.47 to 2.76), family history of non-Hodgkin lymphoma (OR = 1.95, 95% CI = 1.54 to 2.47), higher young adult body mass index (OR = 1.58, 95% CI = 1.12 to 2.23, for 35+ vs 18.5 to 22.4 kg/m(2)), higher recreational sun exposure (OR = 0.78, 95% CI = 0.69 to 0.89), any atopic disorder (OR = 0.82, 95% CI = 0.76 to 0.89), and higher socioeconomic status (OR = 0.86, 95% CI = 0.79 to 0.94). Additional risk factors for women were occupation as field crop/vegetable farm worker (OR = 1.78, 95% CI = 1.22 to 2.60), hairdresser (OR = 1.65, 95% CI = 1.12 to 2.41), and seamstress/embroider (OR = 1.49, 95% CI = 1.13 to 1.97), low adult body mass index (OR = 0.46, 95% CI = 0.29 to 0.74, for therapy started age at least 50 years (OR = 0.68, 95% CI = 0.52 to 0.88), and oral contraceptive use before 1970 (OR = 0.78, 95% CI = 0.62 to 1.00); and for men were occupation as material handling equipment operator (OR = 1.58, 95% CI = 1.02 to 2.44), lifetime alcohol consumption (OR = 0.57, 95% CI = 0.44 to 0.75, for >400 kg vs nondrinker), and previous blood transfusion (OR = 0.69, 95% CI = 0.57 to 0.83). Autoimmune disease, atopy, and family history of non-Hodgkin lymphoma showed similar associations across selected anatomical sites, whereas smoking was associated with central nervous system, testicular and cutaneous DLBCLs; inflammatory bowel disease was associated with gastrointestinal DLBCL; and

  8. Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.

    Science.gov (United States)

    Gianfrancesco, Fernando; Rendina, Domenico; Merlotti, Daniela; Esposito, Teresa; Amyere, Mustapha; Formicola, Daniela; Muscariello, Riccardo; De Filippo, Gianpaolo; Strazzullo, Pasquale; Nuti, Ranuccio; Vikkula, Mikka; Gennari, Luigi

    2013-02-01

    Neoplastic degeneration represents a rare but serious complication of Paget's disease of bone (PDB). Although osteosarcomas have been described in up to 1% of PDB cases, giant cell tumors are less frequent and mainly occur in patients with polyostotic disease. We recently characterized a large pedigree with 14 affected members of whom four developed giant cell tumors at pagetic sites. The high number of affected subjects across multiple generations allowed us to better characterize the clinical phenotype and look for possible susceptibility loci. Of interest, all the affected members had polyostotic PDB, but subjects developing giant cell tumors showed an increased disease severity with a reduced clinical response to bisphosphonate treatment and an increased prevalence of bone pain, deformities, and fractures. Together with an increased occurrence of common pagetic complications, affected patients of this pedigree also evidenced a fivefold higher prevalence of coronary artery disease with respect to either the unaffected family members or a comparative cohort of 150 unrelated PDB cases from the same geographical area. This association was further enhanced in the four cases with PDB and giant cell tumors, all of them developing coronary artery disease before 60 years of age. Despite the early onset and the severe phenotype, PDB patients from this pedigree were negative for the presence of SQSTM1 or TNFRSF11A mutations, previously associated with enhanced disease severity. Genome-wide linkage analysis identified six possible candidate regions on chromosomes 1, 5, 6, 8, 10, and 20. Because the chromosome 8 and 10 loci were next to the TNFRSF11B and OPTN genes, we extended the genetic screening to these two genes, but we failed to identify any causative mutation at both the genomic and transcription level, suggesting that a different genetic defect is associated with PDB and potentially giant cell tumor of bone in this pedigree. Copyright © 2013 American Society for

  9. 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)

  10. Decreased high-density lipoprotein (HDL) particle size, prebeta-, and large HDL subspecies concentration in Finnish low-HDL families: relationship with intima-media thickness.

    Science.gov (United States)

    Watanabe, Hiroshi; Söderlund, Sanni; Soro-Paavonen, Aino; Hiukka, Anne; Leinonen, Eeva; Alagona, Corradina; Salonen, Riitta; Tuomainen, Tomi-Pekka; Ehnholm, Christian; Jauhiainen, Matti; Taskinen, Marja-Riitta

    2006-04-01

    High-density lipoprotein (HDL) cholesterol correlates inversely with the risk of coronary heart disease (CHD). The precise antiatherogenic mechanisms of HDL subspecies are not thoroughly elucidated. We studied the relationship between carotid intima-media thickness (IMT) and HDL subspecies distribution in Finnish families with low HDL cholesterol and premature CHD. Altogether, 148 members of Finnish low-HDL families and 133 healthy control subjects participated in our study. HDL particle size was significantly smaller in affected family members (HDL family members and control subjects (9.1+/-0.04 nm versus 9.5+/-0.05 nm, Pfamily members. Mean IMT was significantly higher in the affected family members than in the control subjects (0.85+/-0.01 mm versus 0.79+/-0.01 mm; Ppressure, and prebeta-HDL were significant independent determinants of mean IMT. The decreased levels of HDL2b and prebeta-HDL reflect the potentially efflux-deficient HDL subspecies profile in the affected low-HDL family members. Decreased HDL particle size caused by the decrease of plasma concentration of HDL2b and decreased prebeta-HDL levels correlate with increased IMT.

  11. Large-scale bioinformatic analysis of the regulation of the disease resistance NBS gene family by microRNAs in Poaceae.

    Science.gov (United States)

    Habachi-Houimli, Yosra; Khalfallah, Yosra; Makni, Hanem; Makni, Mohamed; Bouktila, Dhia

    2016-01-01

    In the present study, we have screened 71, 713, 525, 119 and 241 mature miRNA variants from Hordeum vulgare, Oryza sativa, Brachypodium distachyon, Triticum aestivum, and Sorghum bicolor, respectively, and classified them with respect to their conservation status and expression levels. These Poaceae non-redundant miRNA species (1,669) were distributed over a total of 625 MIR families, among which only 54 were conserved across two or more plant species, confirming the relatively recent evolutionary differentiation of miRNAs in grasses. On the other hand, we have used 257 H. vulgare, 286T. aestivum, 119 B. distachyon, 269 O. sativa, and 139 S. bicolor NBS domains, which were either mined directly from the annotated proteomes, or predicted from whole genome sequence assemblies. The hybridization potential between miRNAs and their putative NBS genes targets was analyzed, revealing that at least 454 NBS genes from all five Poaceae were potentially regulated by 265 distinct miRNA species, most of them expressed in leaves and predominantly co-expressed in additional tissues. Based on gene ontology, we could assign these probable miRNA target genes to 16 functional groups, among which three conferring resistance to bacteria (Rpm1, Xa1 and Rps2), and 13 groups of resistance to fungi (Rpp8,13, Rp3, Tsn1, Lr10, Rps1-k-1, Pm3, Rpg5, and MLA1,6,10,12,13). The results of the present analysis provide a large-scale platform for a better understanding of biological control strategies of disease resistance genes in Poaceae, and will serve as an important starting point for enhancing crop disease resistance improvement by means of transgenic lines with artificial miRNAs. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  12. Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.

    Science.gov (United States)

    Hinderhofer, Katrin; Fischer, Christine; Pfarr, Nicole; Szamalek-Hoegel, Justyna; Lichtblau, Mona; Nagel, Christian; Egenlauf, Benjamin; Ehlken, Nicola; Grünig, Ekkehard

    2014-01-01

    Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can lead to hereditary pulmonary arterial hypertension (HPAH) and are detected in more than 80% of cases with familial aggregation of the disease. Factors determining disease penetrance are largely unknown. A mean clinical follow-up of 12 years was accomplished in 46 family members including echocardiography, stress-Dopplerechocardiography and genetic analysis of TGF-β pathway genes. Right heart catheterization and RNA-analysis was performed in members with pathological findings. Manifest HPAH was diagnosed in 8 members, 4 were already deceased, two died during the follow-up, two are still alive. Normal pulmonary artery systolic pressure at rest but hypertensive response to exercise has been identified in 19 family members. Analysis of BMPR2 transcripts revealed aberrant splicing due to an insertion of an intronic Alu element adjacent to exon 6. All HPAH patients and 12 further asymptomatic family members carried this insertion. During follow-up two family members carrying hypertensive response and the Alu insertion developed manifest HPAH. This is the first report of an intronic BMPR2 mutation due to an Alu element insertion causing HPAH in a large family which has been confirmed on RNA-level. Only those members that carried both hypertensive response and the mutation developed manifest HPAH during follow-up. Our findings highlight the importance of including further methods such as RNA analysis into the molecular genetic diagnostic of PAH patients. They suggest that at least in some families hypertensive response may be an additional risk factor for disease manifestation and penetrance.

  13. Identification of a New Intronic BMPR2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-Up of 12 Years

    Science.gov (United States)

    Pfarr, Nicole; Szamalek-Hoegel, Justyna; Lichtblau, Mona; Nagel, Christian; Egenlauf, Benjamin; Ehlken, Nicola; Grünig, Ekkehard

    2014-01-01

    Background Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can lead to hereditary pulmonary arterial hypertension (HPAH) and are detected in more than 80% of cases with familial aggregation of the disease. Factors determining disease penetrance are largely unknown. Methods A mean clinical follow-up of 12 years was accomplished in 46 family members including echocardiography, stress-Dopplerechocardiography and genetic analysis of TGF-β pathway genes. Right heart catheterization and RNA-analysis was performed in members with pathological findings. Results Manifest HPAH was diagnosed in 8 members, 4 were already deceased, two died during the follow-up, two are still alive. Normal pulmonary artery systolic pressure at rest but hypertensive response to exercise has been identified in 19 family members. Analysis of BMPR2 transcripts revealed aberrant splicing due to an insertion of an intronic Alu element adjacent to exon 6. All HPAH patients and 12 further asymptomatic family members carried this insertion. During follow-up two family members carrying hypertensive response and the Alu insertion developed manifest HPAH. Conclusion This is the first report of an intronic BMPR2 mutation due to an Alu element insertion causing HPAH in a large family which has been confirmed on RNA-level. Only those members that carried both hypertensive response and the mutation developed manifest HPAH during follow-up. Our findings highlight the importance of including further methods such as RNA analysis into the molecular genetic diagnostic of PAH patients. They suggest that at least in some families hypertensive response may be an additional risk factor for disease manifestation and penetrance. PMID:24621962

  14. Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.

    Directory of Open Access Journals (Sweden)

    Katrin Hinderhofer

    Full Text Available BACKGROUND: Mutations in the bone morphogenetic protein receptor 2 (BMPR2 gene can lead to hereditary pulmonary arterial hypertension (HPAH and are detected in more than 80% of cases with familial aggregation of the disease. Factors determining disease penetrance are largely unknown. METHODS: A mean clinical follow-up of 12 years was accomplished in 46 family members including echocardiography, stress-Dopplerechocardiography and genetic analysis of TGF-β pathway genes. Right heart catheterization and RNA-analysis was performed in members with pathological findings. RESULTS: Manifest HPAH was diagnosed in 8 members, 4 were already deceased, two died during the follow-up, two are still alive. Normal pulmonary artery systolic pressure at rest but hypertensive response to exercise has been identified in 19 family members. Analysis of BMPR2 transcripts revealed aberrant splicing due to an insertion of an intronic Alu element adjacent to exon 6. All HPAH patients and 12 further asymptomatic family members carried this insertion. During follow-up two family members carrying hypertensive response and the Alu insertion developed manifest HPAH. CONCLUSION: This is the first report of an intronic BMPR2 mutation due to an Alu element insertion causing HPAH in a large family which has been confirmed on RNA-level. Only those members that carried both hypertensive response and the mutation developed manifest HPAH during follow-up. Our findings highlight the importance of including further methods such as RNA analysis into the molecular genetic diagnostic of PAH patients. They suggest that at least in some families hypertensive response may be an additional risk factor for disease manifestation and penetrance.

  15. Insight into the late Holocene sea-level changes in the NW Atlantic from a paraglacial beach-ridge plain south of Newfoundland

    Science.gov (United States)

    Billy, Julie; Robin, Nicolas; Hein, Christopher J.; Certain, Raphaël; FitzGerald, Duncan M.

    2015-11-01

    Constructional sedimentary features can provide insight into past changes in relative sea-level (RSL) in regions where traditional bio-stratigraphic markers are absent. The paraglacial beach-ridge plain at Miquelon-Langlade, located 50 km south of Newfoundland, is an example of a well-preserved regressive barrier. Initiation of this plain correlates with a decrease in the rate of RSL rise (from + 4.4 mm/yr to ~ 1.3 mm/yr) at around 3000 years ago. It developed under conditions of normal regression during a period of slow RSL rise (RTK-GPS) and chronologic (optically stimulated luminescence, OSL) data provide a detailed understanding of the constructional history of the plain. The well-defined contact between coarse-grained, wave-built facies and overlying aeolian deposits is used to demonstrate the dominant influences of RSL change in the development of the barrier system and produce a RSL curve over the period of its formation. A net increase of 2.4 m in the surface elevation of wave-built facies is observed across the plain, corresponding to the increase in mean sea-level during its formation. Coupled with OSL dates, trends in elevation of the wave-built facies across the plain are used to reconstruct the relative sea-level history during this period. Acknowledging the uncertainties inherent in the method applied in this study, three distinct periods of sea-level rise can be distinguished: (1) an increase from 2.4 to 1 m below modern MSL between 2400 and 1500 years (average rate of + 1.3 mm/yr); (2) relatively stable or slowly rising RSL (<+ 0.2 mm/yr) from 1400 to 700 years; and (3) a rise of ca. 0.7 m during the past 700 years (+ 1.1 mm/yr). This study not only produces the first RSL reconstruction for the Saint-Pierre-et-Miquelon archipelago but also provides: (i) additional details of RSL changes in a region exhibiting great spatial variations in RSL histories (Newfoundland); (ii) field confirmation that wave-built/aeolian stratigraphic contacts in beach

  16. On the ecology of Calanus finmarchicus in the Subarctic North Atlantic: A comparison of population dynamics and environmental conditions in areas of the Labrador Sea-Labrador/Newfoundland Shelf and Norwegian Sea Atlantic and Coastal Waters

    Science.gov (United States)

    Head, Erica J. H.; Melle, Webjørn; Pepin, Pierre; Bagøien, Espen; Broms, Cecilie

    2013-07-01

    The Norwegian Sea is generally warmer than the Labrador Sea because it is influenced more by Atlantic Water inflows from the south, whereas the latter receives relatively larger inputs of Arctic Water from the north. Despite its more northerly location, the spring bloom generally starts earlier in the Norwegian Sea. Within each of the two seas, however, there are regional and interannual differences in temperature and the timing of the spring bloom. The responses of Calanus finmarchicus populations to these differences in environmental conditions include differences in physical characteristics (e.g. female size), physiological rates (egg production rates) and seasonal cycles of abundance. Females are generally larger in the Labrador Sea and have higher egg production rates for a given chlorophyll concentration than do those in the Norwegian Sea. Within and among areas in both seas, as temperatures increase and spring blooms tend to occur earlier, C. finmarchicus start to reproduce earlier, the new generation develops faster, and in some areas a second generation ensues. In areas where near surface temperatures are relatively high in summer and/or where phytoplankton growth rates are relatively low in summer or autumn, reproduction and development cease, and C. finmarchicus desert the surface layers for their overwintering depths. This occurs in the Norwegian Sea in summer and in the central Labrador Sea in autumn. By contrast, in areas where near surface temperatures remain cool in summer and where phytoplankton growth persists through the autumn, reproduction and development can continue through summer and autumn, probably until winter vertical mixing prevents phytoplankton growth. This occurs on the southern Newfoundland Shelf. Even in areas where the growth season is prolonged, however, a proportion of the first generation, and probably subsequent generations, descends to overwinter. If the size of the overwintering population is used as an index of net

  17. Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family

    NARCIS (Netherlands)

    Foncke, E.M.J.; Cath, D.; Zwinderman, K.; Smit, J.; Schmand, B.; Tijssen, M.

    2009-01-01

    AB Background: Myoclonus-dystonia (M-D) is a movement disorder frequently caused by mutations in the epsilon-sarcoglycan gene (SGCE, DYT11). In several M-D families, psychiatric symptoms accompanying the motor symptoms have been reported, but a shared genetic etiology remains unclear. Objective: To

  18. 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 ...

  19. 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,…

  20. Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

    NARCIS (Netherlands)

    Brohet, Richard M.; Velthuizen, Maria E.; Hogervorst, Frans B. L.; Meijers-Heijboer, Hanne E. J.; Seynaeve, Caroline; Collee, Margriet J.; Verhoef, Senno; Ausems, Margreet G. E. M.; Hoogerbrugge, Nicoline; van Asperen, Christi J.; Garcia, Encarna Gomez; Menko, Fred; Oosterwijk, Jan C.; Devilee, Peter; van't Veer, Laura J.; van Leeuwen, Flora E.; Easton, Douglas F.; Rookus, Matti A.; Antoniou, Antonis C.

    2014-01-01

    Background BRCA1 or BRCA2 mutations confer increased risks of breast and ovarian cancer, but risks have been found to vary across studies and populations. Methods We ascertained pedigree data of 582 BRCA1 and 176 BRCA2 families and studied the variation in breast and ovarian cancer risks using a mod

  1. 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,…

  2. 大户带动型产业化组织模式研究%The Mode and Governance Mechanism of Large-farm-family-led Industrialized Management Organization

    Institute of Scientific and Technical Information of China (English)

    徐静; 万俊毅

    2013-01-01

    With the development of China’s rural economy, large-farm-family-led industrial organization as a new agricultural management organization shows great potential for development, and plays an important role in the development of agriculture and rural areas as well as increases farmers’ income in rural areas. The development of Chinese rural marginal culture promotes the large-family-led industrial organization. Being affected by Chinese rural acquaintance society, the trades among large-farm-family-led industrial organizations and farmers as well as other economic organizations tend to emphasize on the relational governance mechanism. Due to the limitations of this type of organization and the relational governance mechanism, the development of this kind of organization is restricted greatly. In recent years, the large-farm-family-led industrial organization tends to fuse with other economic organizations, and with the development of family farms, the prospects of large-farm-family-led industrial organization is worthy of more attention.%随着中国农村经济的发展,农业专业大户作为一种新型的农业经营主体彰显出巨大的发展潜力,在农业增效、农村增富、农民增收中发挥着重要作用。中国农村缘文化的发展推动大户以三种不同的方式产生,并推动大户带动型产业化组织的不断发展。大户带动型产业化组织受其自身局限性的影响,其发展受到极大限制。近年来,大户型产业化组织出现与其他经济组织融合的倾向,并随着家庭农场的兴起,大户带动型产业化组织的发展前景越来越值得关注。

  3. 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)

    2014-01-01

    Purpose Stigma towards people with mental illness is believed to be widespread in low and middle income countries. Methods 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. Results 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 < 0.001); while family members, unexpectedly, showed far weaker personal preferences for direct personal relationships with people with mental illness than all three other groups (p < 0.001). Conclusion Both psychiatrists and nurses showed greater support for social integration and biopsychosocial understandings of mental illness than the lay public, most likely because of their training and experience, while family members showed the least positive attitudes towards direct personal relationships with people with mental illness. These findings suggest support for a more extensive, formal system of care that gives family members some distance from the problems of their relatives and support in their care. PMID:25053975

  4. Aglaopheniid hydroids (Cnidaria: Hydrozoa: Aglaopheniidae) from bathyal waters of the Flemish Cap, Flemish Pass, and Grand Banks of Newfoundland (NW Atlantic) .

    Science.gov (United States)

    Altuna, Alvaro; Murillo, Francisco J; Calder, Dale R

    2013-11-22

    Five species of aglaopheniid hydroids (Aglaophenopsis cornuta, Cladocarpus diana, C. formosus, C. integer, and Nematocarpus ramuliferus) were collected from the Flemish Cap, Flemish Pass, and Grand Banks of Newfoundland during surveys with bottom trawls, rock dredges, and scallop gear. All are infrequently reported species, with C. diana being discovered for the first time since its original description from Iceland. We document here the southernmost collections of C. diana and N. ramuliferus, both previously unknown in the western Atlantic. Each of the five species is described and illustrated based on fertile material, a key is provided for their identification, and bathymetric distributions are noted. Known depth ranges are extended for A. cornuta, C. diana, and C. integer. Aglaophenopsis and Nematocarpus are recognized as genera distinct from the polyphyletic Cladocarpus, based on the unique structure of the phylactocarp in the former, and the existence of appendages with nematothecae (ramuli) on almost all thecate internodes of hydrocladia in the latter. These appendages occur even in the absence of gonothecae, and are here considered defensive structures that protect the hydranths. In differing from typical phylactocarps, we accept the contention that they are characters of generic value.

  5. Interaction between alcohol drinking and obesity in relation to colorectal cancer risk: a case-control study in Newfoundland and Labrador, Canada

    Directory of Open Access Journals (Sweden)

    Zhao Jinhui

    2012-02-01

    Full Text Available Abstract Background While substantive epidemiological literature suggests that alcohol drinking and obesity are potential risk factors of colorectal cancer (CRC, the possible interaction between the two has not been adequately explored. We used a case-control study to examine if alcohol drinking is associated with an increased risk of CRC and if such risk differs in people with and without obesity. Methods Newly diagnosed CRC cases were identified between 1999 and 2003 in Newfoundland and Labrador (NL. Cases were frequency-matched by age and sex with controls selected using random digit dialing. Cases (702 and controls (717 completed self-administered questionnaires assessing health and lifestyle variables. Estimates of alcohol intake included types of beverage, years of drinking, and average number of alcohol drinks per day. Odds ratios were estimated to investigate the associations of alcohol independently and when stratified by obesity status on the risk of CRC. Results Among obese participants (BMI ≥ 30, alcohol was associated with higher risk of CRC (OR: 2.2; 95% CI: 1.2-4.0 relative to the non-alcohol category. Among obese individuals, 3 or more different types of drinks were associated with a 3.4-fold higher risk of CRC relative to non-drinkers. The risk of CRC also increased with drinking years and drinks daily among obese participants. However, no increased risk was observed in people without obesity. Conclusion The effect of alcohol of drinking on CRC seems to be modified by obesity.

  6. Melanin-concentrating hormone receptor 1 polymorphisms are associated with components of energy balance in the Complex Diseases in the Newfoundland Population: Environment and Genetics (CODING) study.

    Science.gov (United States)

    Fontaine-Bisson, Bénédicte; Thorburn, James; Gregory, Anne; Zhang, Hongwei; Sun, Guang

    2014-02-01

    The melanin-concentrating hormone receptor 1 (MCHR1) is a G protein-coupled receptor that regulates energy balance and body composition in animal models. Inconsistent effects of MCHR1 polymorphisms on energy homeostasis in humans may partly be attributable to environmental factors. We examined the effect of 4 single nucleotide polymorphisms (rs133073, rs133074, rs9611386, and rs882111) in the MCHR1 gene on body composition as well as energy-related lifestyle factors (diet and physical activity). We also examined the effect of gene-lifestyle interactions on body composition. A total of 1153 participants (248 men and 905 women) from the cross-sectional Complex Diseases in the Newfoundland Population: Environment and Genetics (CODING) study were genotyped by using probe-based chemistry validated assays. Diet and physical activity were estimated by using validated frequency questionnaires, and body composition was assessed by using dual-energy X-ray absorptiometry. Three polymorphisms (rs9611386, rs882111, and rs133073) were associated with differences in body-composition measurements (all P energy intakes (P = 0.02). A similar interaction was shown with rs882111 (P = 0.02). Interactions were also observed between each of these polymorphisms (rs9611386, rs882111, and rs133073) and physical activity score on body-composition measurements (all P gene are associated with differences in body composition and interact with physiologic and energy-related lifestyle factors.

  7. Protein phosphatase 2B (PP2B, calcineurin) in Paramecium: partial characterization reveals that two members of the unusually large catalytic subunit family have distinct roles in calcium-dependent processes.

    Science.gov (United States)

    Fraga, D; Sehring, I M; Kissmehl, R; Reiss, M; Gaines, R; Hinrichsen, R; Plattner, H

    2010-07-01

    We characterized the calcineurin (CaN) gene family, including the subunits CaNA and CaNB, based upon sequence information obtained from the Paramecium genome project. Paramecium tetraurelia has seven subfamilies of the catalytic CaNA subunit and one subfamily of the regulatory CaNB subunit, with each subfamily having two members of considerable identity on the amino acid level (>or=55% between subfamilies, >or=94% within CaNA subfamilies, and full identity in the CaNB subfamily). Within CaNA subfamily members, the catalytic domain and the CaNB binding region are highly conserved and molecular modeling revealed a three-dimensional structure almost identical to a human ortholog. At 14 members, the size of the CaNA family is unprecedented, and we hypothesized that the different CaNA subfamily members were not strictly redundant and that at least some fulfill different roles in the cell. This was tested by selecting two phylogenetically distinct members of this large family for posttranscriptional silencing by RNA interference. The two targets resulted in differing effects in exocytosis, calcium dynamics, and backward swimming behavior that supported our hypothesis that the large, highly conserved CaNA family members are not strictly redundant and that at least two members have evolved diverse but overlapping functions. In sum, the occurrence of CaN in Paramecium spp., although disputed in the past, has been established on a molecular level. Its role in exocytosis and ciliary beat regulation in a protozoan, as well as in more complex organisms, suggests that these roles for CaN were acquired early in the evolution of this protein family.

  8. Protein Phosphatase 2B (PP2B, Calcineurin) in Paramecium: Partial Characterization Reveals That Two Members of the Unusually Large Catalytic Subunit Family Have Distinct Roles in Calcium-Dependent Processes▿‡

    Science.gov (United States)

    Fraga, D.; Sehring, I. M.; Kissmehl, R.; Reiss, M.; Gaines, R.; Hinrichsen, R.; Plattner, H.

    2010-01-01

    We characterized the calcineurin (CaN) gene family, including the subunits CaNA and CaNB, based upon sequence information obtained from the Paramecium genome project. Paramecium tetraurelia has seven subfamilies of the catalytic CaNA subunit and one subfamily of the regulatory CaNB subunit, with each subfamily having two members of considerable identity on the amino acid level (≥55% between subfamilies, ≥94% within CaNA subfamilies, and full identity in the CaNB subfamily). Within CaNA subfamily members, the catalytic domain and the CaNB binding region are highly conserved and molecular modeling revealed a three-dimensional structure almost identical to a human ortholog. At 14 members, the size of the CaNA family is unprecedented, and we hypothesized that the different CaNA subfamily members were not strictly redundant and that at least some fulfill different roles in the cell. This was tested by selecting two phylogenetically distinct members of this large family for posttranscriptional silencing by RNA interference. The two targets resulted in differing effects in exocytosis, calcium dynamics, and backward swimming behavior that supported our hypothesis that the large, highly conserved CaNA family members are not strictly redundant and that at least two members have evolved diverse but overlapping functions. In sum, the occurrence of CaN in Paramecium spp., although disputed in the past, has been established on a molecular level. Its role in exocytosis and ciliary beat regulation in a protozoan, as well as in more complex organisms, suggests that these roles for CaN were acquired early in the evolution of this protein family. PMID:20435698

  9. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

    Science.gov (United States)

    Barros, José; Damásio, Joana; Tuna, Assunção; Alves, Ivânia; Silveira, Isabel; Pereira-Monteiro, José; Sequeiros, Jorge; Alonso, Isabel; Sousa, Alda; Coutinho, Paula

    2013-02-01

    To document and discuss the broad phenotypic variability in a Portuguese family with cerebellar ataxia, hemiplegic migraine, and related syndromes caused by missense mutation c.1748 (p.R583Q) in the CACNA1A gene. Observational 12-year follow-up study. Community and hospital care. Sixteen patients in a 4-generation family were identified in 1998 in a population-based survey. The follow-up revealed 28 patients (25 of whom were observed) and 32 unaffected relatives with an a priori risk of 50%. Four major phenotypes (migraine with multiple auras, transient focal neurological deficits without headache, coma triggered by minor head trauma, and slowly progressive cerebellar ataxia) were present in various combinations. The initial manifestation was ataxia in 16 patients and a transient episode in 12 patients. Eighteen patients did not have migraine, and 11 showed only ataxia. The c.1748 (p.R583Q) mutation in CACNA1A was confirmed in all 23 of the patients who were tested but was not found in any of the 27 adult relatives. The CACNA1A CAG repeat expansion was excluded. A unique missense mutation in the CACNA1A gene, which exhibits a very high penetrance and expressivity, may present a phenotypic spectrum that is broader than current descriptions. Single-gene disorders can behave as complex traits, which reinforces the importance of genetic modifiers in the tightly regulated function of P/Q-type calcium channels. The clinical spectrum of missense mutation CACNA1A -related disorders is much broader than strictly familial hemiplegic migraine.

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

    Directory of Open Access Journals (Sweden)

    Das Arpita

    2005-05-01

    Full Text Available Abstract Background 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. Results 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. Conclusion A combination of empirical sequencing and retrieval of unannotated Genome Survey Sequence database entries was successfully used to construct a full-length representative of

  11. 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.

  12. [Familial hypercholesterolemia].

    Science.gov (United States)

    Turpin, G; Bruckert, E

    1999-12-01

    Familial hypercholesterolemia is characterized by a high plasma LDL-cholesterol level. The low-density particles are the end-product of the triglyceride-rich particles, i.e. VLDL, synthetized by the liver. These triglyceride-rich particles are subsequently transformed into intermediate density lipoprotein by the lipoprotein lipase and LDL after further triglyceride hydrolysis by the hepatic lipase. The LDL particles are taken up in all cells by the mean of the LDL receptor. A large body of evidence (including experimental, clinical, epidemiological data as well as the results of large trial with lipid lowering drugs) has accumulated to establish that these particles are one of the major causative factor of atherosclerosis and its complications. Two different mechanisms may be at work in the familial hypercholesterolemia: a mutation in the LDL receptor or a single mutation in the apolipoprotein B100. Specific therapeutic intervention should be undertaken to decrease the risk to develop cardiovascular disease, mainly coronary heart disease. The therapeutic intervention includes both a diet low in saturated fatty acids and cholesterol and statins which are now the first line therapy. Fibrates are proposed to those who do not tolerate statins and LDL-apheresis is associated to statin in the rare homozygous familial hypercholesterolemia.

  13. Younger Dryas and Holocene oceanography of the western Labrador Sea region based on foraminifera and sediment proxies from Placentia Bay, Newfoundland

    Science.gov (United States)

    Sheldon, Christina; Pearce, Christof; Seidenkrantz, Marit-Solveig; Kuijpers, Antoon; Reynisson, Njáll F.; Zilmer Christensen, Eva; Juncker Hansen, Mette

    2014-05-01

    Benthic foraminiferal assemblages and geochemical analyses from three marine sediment cores from Placentia Bay on the southwest coast of Newfoundland captured the evolving surface and subsurface environment of the eastern Labrador Sea during the late glacial and Holocene. The area, which is today located in the boundary zone between the Arctic Labrador current and the warm Gulf Stream in the eastern margin of the Labrador Sea was during the early part of the Younger Dryas (13.0-12.3 cal. kyr BP) dominated by cold, Arctic conditions and heavy sea-ice cover linked to a strong Polar Water component of the Inner Labrador Current. In the later part of the Younger Dryas (12.3-11.5 kyr BP) the influence of the Labrador Current (LC) became less pronounced resulting in more unstable conditions with varying sea-ice cover and increased influence of Gulf Stream water, presumably linked to an increased strength of the Atlantic Meridional Overturning Circulation (AMOC). The earliest Holocene (11.5-10.4 kyr BP) saw slightly warmer subsurface conditions in Placentia Bay and increased productivity, presumably caused by a decreased southward transport of Polar Water via the LC. The onset of a strong AMOC caused the northward movement of the frontal zone between the Subpolar Gyre and the North Atlantic Subtropical Gyre in the western North Atlantic region to closer proximity to the southern coast of Newfoundland compared to previously. From ca. 10.4-9.65 kyr BP increased bottom-current speeds and the presence of species often found in connection to oceanic fronts, suggest a further strengthening of the AMOC causing inflow of Atlantic-source water into Placentia Bay. This tendency was further strengthened at 9.65-7.3 kyr BP, which saw a relatively strong inflow of Atlantic-source Gulf Stream water into Placentia Bay, evidenced by high frequencies of Cassidulina neoteretis. This inflow of Atlantic was however temporarily halted around 8.2 kyr BP, when a short-lived, extreme peak in

  14. Phylogenetic analysis and possible function of bro-like genes, a multigene family widespread among large double-stranded DNA viruses of invertebrates and bacteria.

    Science.gov (United States)

    Bideshi, Dennis K; Renault, Sylvaine; Stasiak, Karine; Federici, Brian A; Bigot, Yves

    2003-09-01

    Baculovirus repeated open reading frame (bro) genes and their relatives constitute a multigene family, typically with multiple copies per genome, known to occur among certain insect dsDNA viruses and bacteriophages. Little is known about the evolutionary history and function of the proteins encoded by these genes. Here we have shown that bro and bro-like (bro-l) genes occur among viruses of two additional invertebrate viral families, Ascoviridae and Iridoviridae, and in prokaryotic class II transposons. Analysis of over 100 sequences showed that the N-terminal region, consisting of two subdomains, is the most conserved region and contains a DNA-binding motif that has been characterized previously. Phylogenetic analysis indicated that these proteins are distributed among eight groups, Groups 1-7 consisting of invertebrate virus proteins and Group 8 of proteins in bacteriophages and bacterial transposons. No bro genes were identified in databases of invertebrate or vertebrate genomes, vertebrate viruses and transposons, nor in prokaryotic genomes, except in prophages or transposons of the latter. The phylogenetic relationship between bro genes suggests that they have resulted from recombination of viral genomes that allowed the duplication and loss of genes, but also the acquisition of genes by horizontal transfer over evolutionary time. In addition, the maintenance and diversity of bro-l genes in different types of invertebrate dsDNA viruses, but not in vertebrate viruses, suggests that these proteins play an important role in invertebrate virus biology. Experiments with the unique orf2 bro gene of Autographa californica multicapsid nucleopolyhedrovirus showed that it is not required for replication, but may enhance replication during the occlusion phase of reproduction.

  15. A Comprehensive Catalog of Human KRAB-associated Zinc Finger Genes: Insights into the Evolutionary History of a Large Family of Transcriptional Repressors

    Energy Technology Data Exchange (ETDEWEB)

    Huntley, S; Baggott, D M; Hamilton, A T; Tran-Gyamfi, M; Yang, S; Kim, J; Gordon, L; Branscomb, E; Stubbs, L

    2005-09-30

    Krueppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotic species. In mammals, most ZNF proteins comprise a single class of transcriptional repressors in which a chromatin interaction domain, called the Krueppel-associated box (KRAB) is attached to a tandem array of DNA-binding zinc-finger motifs. KRAB-ZNF loci are specific to tetrapod vertebrates, but have expanded dramatically in numbers through repeated rounds of segmental duplication to create a gene family with hundreds of members in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the human genome for key motifs and used them to construct and manually curate gene models. The resulting KRAB-ZNF gene catalog includes 326 known genes, 243 of which were structurally corrected by manual annotation, and 97 novel KRAB-ZNF genes; this single family therefore comprises 20% of all predicted human transcription factor genes. Many of the genes are alternatively spliced, yielding a total of 743 distinct predicted proteins. Although many human KRAB-ZNF genes are conserved in mammals, at least 136 and potentially more than 200 genes of this type are primate-specific including many recent segmental duplicates. KRAB-ZNF genes are active in a wide variety of human tissues suggesting roles in many key biological processes, but most member genes remain completely uncharacterized. Because of their sheer numbers, wide-ranging tissue-specific expression patterns, and remarkable evolutionary divergence we predict that KRAB-ZNF transcription factors have played critical roles in crafting many aspects of human biology, including both deeply conserved and primate-specific traits.

  16. 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

    in two expert laboratories did not identify a confirmatory mutation, presenting a diagnostic dilemma. A renal biopsy proved diagnostic and renewed efforts to detect an a-Gal A mutation. Subsequent gene dosage analyses identified a large a-Gal A deletion confirming her heterozygosity, and she was started...

  17. 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

    in two expert laboratories did not identify a confirmatory mutation, presenting a diagnostic dilemma. A renal biopsy proved diagnostic and renewed efforts to detect an a-Gal A mutation. Subsequent gene dosage analyses identified a large a-Gal A deletion confirming her heterozygosity, and she was started...

  18. The Cretaceous/Paleogene (K-Pg) boundary at the J Anomaly Ridge, Newfoundland (IODP Expedition 342, Hole U1403B)

    Science.gov (United States)

    Loroch, Dominik; Deutsch, Alexander; Berndt, Jasper; Bornemann, André

    2016-07-01

    We present results of an in-situ geochemical study using laser-ablation inductively coupled plasma-mass spectrometry (LA-ICP-MS) analyses along a ~4.3 cm long section across the K-Pg event bed, drilled during IODP Expedition 342 at J Anomaly Ridge south of St. John's, Newfoundland. This section comprises the Maastrichtian with a sharp boundary to the graded, between 1.5 and 1.8 cm thick ejecta layer with totally altered impact glass spherules, which in turn is topped by Danian sediments. The porous and clayey material required elaborate preparation in order to yield reliable data. The ejecta bed shows a highly variable depletion in rare earth elements that even results in strongly subchondritic concentrations. The Ce/Ce* varies strongly (0.81-34), Ni/Cr ranges from 0.38 to 2.79. The maximum platinum group elements (PGE) concentrations are located in one LA-spot exactly at the basis of the ejecta layer; they amount (in μg g-1) to 0.35 (Rh), 1.64 (Pd), 2.79 (Pt), and 0.86 (Au). The Nb/Ta ratio increases in the Ma from ~10 to 35.9 toward the ejecta horizon, which itself has higher Nb, Ta, Zr, and Hf concentrations than the background sedimentation, combined with low Nb/Ta (~5-10), and low Zr/Hf (~20-30). The overall result is that alteration processes changed totally the original geochemical characteristics of this K-Pg spherule bed. To explain the exorbitant element mobility at distances of hundreds of μm, we discuss a combination of mostly reducing redox processes and interaction with organic compounds. This study demonstrates the high potential of in-situ analyses with high spatial resolution at complex geological materials. Moreover, our results indicate that some caution is necessary in determining the projectile type in impactites via PGE ratios.

  19. 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...

  20. 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...

  1. Family Life

    Science.gov (United States)

    ... With Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , ... your outlook on the future. Friends and adult family members The effects of cancer on your relationships ...

  2. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

    Science.gov (United States)

    Delague, Valérie; Bareil, Corinne; Bouvagnet, Patrice; Salem, Nabiha; Chouery, Eliane; Loiselet, Jacques; Mégarbané, André; Claustres, Mireille

    2002-03-01

    Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

  3. Family size effects: a review.

    Science.gov (United States)

    Wagner, M E; Schubert, H J; Schubert, D S

    1985-03-01

    Larger families are more frequent with early marriage and rapid birth of the first child. In larger families, child rearing becomes more rule ridden, less individualized, with corporal punishment and less investment of resources. Smaller families tend to result in higher IQ, academic achievement, and occupational performance. Large families produce more delinquents and alcoholics. Perinatal morbidity and mortality rates are higher in large families as birth weights decrease. Mothers of large families are at higher risk of several physical diseases. Common methodological errors are indicated and exemplary studies are described.

  4. Infectious, atopic and inflammatory diseases, childhood adversities and familial aggregation are independently associated with the risk for mental disorders: Results from a large Swiss epidemiological study

    OpenAIRE

    Ajdacic-Gross, V.; A. Aleksandrowicz; Rodgers, S; Mutsch, M.; Tesic, A.; Müller, M.; Kawohl, W.; Rössler, W.; Seifritz, E; CASTELAO, E.; Strippoli, M.F.; Vandeleur, C.; von Känel, R.; Paolicelli, R.; Landolt, M A

    2016-01-01

    AIM: To examine the associations between mental disorders and infectious, atopic, inflammatory diseases while adjusting for other risk factors. METhODS: We used data from PsyCoLaus, a large Swiss Population Cohort Study (n = 3720; age range 35-66). Lifetime diagnoses of mental disorders were grouped into the following categories: Neurodevelopmental, anxiety (early and late onset), mood and substance disorders. They were regressed on infectious, atopic and other inflammatory diseases adjust...

  5. 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

  6. Influence of a positive family history of both type 2 diabetes and PCOS on metabolic and endocrine parameters in a large cohort of PCOS women.

    Science.gov (United States)

    Lerchbaum, Elisabeth; Schwetz, Verena; Giuliani, Albrecht; Obermayer-Pietsch, Barbara

    2014-05-01

    There is evidence suggesting a strong genetic background of polycystic ovary syndrome (PCOS). We aim to study the metabolic and endocrine characteristics of PCOS women with and without a family history (FHx) of type 2 diabetes mellitus (T2DM) and PCOS. Cross-sectional study. We analysed the association of T2DM FHx and PCOS FHx with metabolic and endocrine parameters in 714 PCOS women. A positive FHx of T2DM and PCOS were prevalent in 36.8 and 21.4% of PCOS women respectively. We found an independent association of T2DM FHx with central fat accumulation, obesity, prediabetes, metabolic syndrome (MS), insulin resistance, low HDL and elevated blood pressure (P<0.05 for all). PCOS FHx was independently associated with prediabetes (P<0.05). We observed an independent association of PCOS FHx with clinical and biochemical hyperandrogenism (P<0.05 for all), whereas there was no independent association of T2DM FHx with hyperandrogenism. PCOS women with a positive FHx of both T2DM and PCOS had an adverse metabolic and endocrine profile including a linear increase in risk of obesity, central fat accumulation, MS, prediabetes and low HDL (P<0.05 for all). Our findings suggest that the assessment of FHx might allow risk stratification of PCOS women, which is important considering the high prevalence of PCOS.

  7. Large, larger, largest--a family of cluster-based tantalum copper aluminides with giant unit cells. I. Structure solution and refinement.

    Science.gov (United States)

    Weber, Thomas; Dshemuchadse, Julia; Kobas, Miroslav; Conrad, Matthias; Harbrecht, Bernd; Steurer, Walter

    2009-06-01

    This is the first of two parts, where we report the structure determination of a novel family of cluster-based intermetallic phases of unprecedented complexity: cF444-Al(63.6)Ta(36.4) (AT-19), a = 19.1663 (1) A, V = 7040 A3, cF(5928-x)-Al(56.6)Cu(3.9)Ta(39.5), x = 20 (ACT-45), a = 45.376 (1) A, V = 93,428 A(3) and cF(23,256-x)-Al(55.4)Cu(5.4)Ta(39.1), x = 122 (ACT-71), a = 71.490 (4) A, V = 365,372 A3. The space group is F43m in all three cases. These cluster-based structures are closely related to the class of Frank-Kasper phases. It is remarkable that all three structures show the same average structure that resembles the cubic Laves phase.

  8. Reading Comprehension in a Large Cohort of French First Graders from Low Socio-Economic Status Families: A 7-Month Longitudinal Study

    Science.gov (United States)

    Gentaz, Edouard; Sprenger-Charolles, Liliane; Theurel, Anne; Colé, Pascale

    2013-01-01

    Background The literature suggests that a complex relationship exists between the three main skills involved in reading comprehension (decoding, listening comprehension and vocabulary) and that this relationship depends on at least three other factors orthographic transparency, children’s grade level and socioeconomic status (SES). This study investigated the relative contribution of the predictors of reading comprehension in a longitudinal design (from beginning to end of the first grade) in 394 French children from low SES families. Methodology/Principal findings Reading comprehension was measured at the end of the first grade using two tasks one with short utterances and one with a medium length narrative text. Accuracy in listening comprehension and vocabulary, and fluency of decoding skills, were measured at the beginning and end of the first grade. Accuracy in decoding skills was measured only at the beginning. Regression analyses showed that listening comprehension and decoding skills (accuracy and fluency) always significantly predicted reading comprehension. The contribution of decoding was greater when reading comprehension was assessed via the task using short utterances. Between the two assessments, the contribution of vocabulary, and of decoding skills especially, increased, while that of listening comprehension remained unchanged. Conclusion/Significance These results challenge the ‘simple view of reading’. They also have educational implications, since they show that it is possible to assess decoding and reading comprehension very early on in an orthography (i.e., French), which is less deep than the English one even in low SES children. These assessments, associated with those of listening comprehension and vocabulary, may allow early identification of children at risk for reading difficulty, and to set up early remedial training, which is the most effective, for them. PMID:24250802

  9. Reading comprehension in a large cohort of French first graders from low socio-economic status families: a 7-month longitudinal study.

    Science.gov (United States)

    Gentaz, Edouard; Sprenger-Charolles, Liliane; Theurel, Anne; Colé, Pascale

    2013-01-01

    The literature suggests that a complex relationship exists between the three main skills involved in reading comprehension (decoding, listening comprehension and vocabulary) and that this relationship depends on at least three other factors orthographic transparency, children's grade level and socioeconomic status (SES). This study investigated the relative contribution of the predictors of reading comprehension in a longitudinal design (from beginning to end of the first grade) in 394 French children from low SES families. Reading comprehension was measured at the end of the first grade using two tasks one with short utterances and one with a medium length narrative text. Accuracy in listening comprehension and vocabulary, and fluency of decoding skills, were measured at the beginning and end of the first grade. Accuracy in decoding skills was measured only at the beginning. Regression analyses showed that listening comprehension and decoding skills (accuracy and fluency) always significantly predicted reading comprehension. The contribution of decoding was greater when reading comprehension was assessed via the task using short utterances. Between the two assessments, the contribution of vocabulary, and of decoding skills especially, increased, while that of listening comprehension remained unchanged. These results challenge the 'simple view of reading'. They also have educational implications, since they show that it is possible to assess decoding and reading comprehension very early on in an orthography (i.e., French), which is less deep than the English one even in low SES children. These assessments, associated with those of listening comprehension and vocabulary, may allow early identification of children at risk for reading difficulty, and to set up early remedial training, which is the most effective, for them.

  10. Reading comprehension in a large cohort of French first graders from low socio-economic status families: a 7-month longitudinal study.

    Directory of Open Access Journals (Sweden)

    Edouard Gentaz

    Full Text Available BACKGROUND: The literature suggests that a complex relationship exists between the three main skills involved in reading comprehension (decoding, listening comprehension and vocabulary and that this relationship depends on at least three other factors orthographic transparency, children's grade level and socioeconomic status (SES. This study investigated the relative contribution of the predictors of reading comprehension in a longitudinal design (from beginning to end of the first grade in 394 French children from low SES families. METHODOLOGY/PRINCIPAL FINDINGS: Reading comprehension was measured at the end of the first grade using two tasks one with short utterances and one with a medium length narrative text. Accuracy in listening comprehension and vocabulary, and fluency of decoding skills, were measured at the beginning and end of the first grade. Accuracy in decoding skills was measured only at the beginning. Regression analyses showed that listening comprehension and decoding skills (accuracy and fluency always significantly predicted reading comprehension. The contribution of decoding was greater when reading comprehension was assessed via the task using short utterances. Between the two assessments, the contribution of vocabulary, and of decoding skills especially, increased, while that of listening comprehension remained unchanged. CONCLUSION/SIGNIFICANCE: These results challenge the 'simple view of reading'. They also have educational implications, since they show that it is possible to assess decoding and reading comprehension very early on in an orthography (i.e., French, which is less deep than the English one even in low SES children. These assessments, associated with those of listening comprehension and vocabulary, may allow early identification of children at risk for reading difficulty, and to set up early remedial training, which is the most effective, for them.

  11. 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.

  12. Sugar beet contains a large CONSTANS-LIKE gene family including a CO homologue that is independent of the early-bolting (B) gene locus.

    Science.gov (United States)

    Chia, T Y P; Müller, A; Jung, C; Mutasa-Göttgens, E S

    2008-01-01

    Floral transition in the obligate long-day (LD) plant sugar beet (Beta vulgaris ssp. vulgaris) is tightly linked to the B gene, a dominant early-bolting quantitative trait locus, the expression of which is positively regulated by LD photoperiod. Thus, photoperiod regulators like CONSTANS (CO) and CONSTANS-LIKE (COL) genes identified in many LD and short-day (SD)-responsive plants have long been considered constituents and/or candidates for the B gene. Until now, the photoperiod response pathway of sugar beet (a Caryophyllid), diverged from the Rosids and Asterids has not been identified. Here, evidence supporting the existence of a COL gene family is provided and the presence of Group I, II, and III COL genes in sugar beet, as characterized by different zinc-finger (B-box) and CCT (CO, CO-like, TOC) domains is demonstrated. BvCOL1 is identified as a close-homologue of Group 1a (AtCO, AtCOL1, AtCOL2) COL genes, hence a good candidate for flowering time control and it is shown that it maps to chromosome II but distant from the B gene locus. The late-flowering phenotype of A. thaliana co-2 mutants was rescued by over-expression of BvCOL1 thereby suggesting functional equivalence with AtCO, and it is shown that BvCOL1 interacts appropriately with the endogenous downstream genes, AtFT and AtSOC1 in the transgenic plants. Curiously, BvCOL1 has a dawn-phased diurnal pattern of transcription, mimicking that of AtCOL1 and AtCOL2 while contrasting with AtCO. Taken together, these data suggest that BvCOL1 plays an important role in the photoperiod response of sugar beet.

  13. 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

  14. Histology and Mucous Histochemistry of the Integument and Body Wall of a Marine Polychaete Worm, Ophryotrocha n. sp. (Annelida: Dorvilleidae Associated with Steelhead Trout Cage Sites on the South Coast of Newfoundland

    Directory of Open Access Journals (Sweden)

    H. M. Murray

    2012-01-01

    Full Text Available Histology and mucous histochemistry of the integument and body wall of a marine polychaete worm, Ophryotrocha n. sp. (Annelida: Dorvilleidae associated with Steelhead trout cage sites on the south coast of Newfoundland. A new species of polychaete (Ophryotrocha n. sp. (Annelida: Dorvilleidae was identified from sediment below Steelhead trout cages on the south coast of Newfoundland, Canada. The organisms were observed to produce a network of mucus in which groups of individuals would reside. Questions regarding the nature and cellular source of the mucus were addressed in this study. Samples of worms were taken from below cages and transported to the laboratory where individuals were fixed for histological study of the cuticle and associated mucus histochemistry. The body wall was organized into segments with an outer cuticle that stained strongly for acid mucopolysaccharides. The epidermis was thin and supported by loose fibrous connective tissue layers. Channels separating individual segments were lined with cells staining positive for Alcian blue. Mucoid cellular secretions appeared thick and viscous, strongly staining with Alcian blue and Periodic Acid Schiff Reagent. It was noted that lateral channels were connected via a second channel running through the anterior/posterior axis. The role of mucus secretion is discussed.

  15. 大间隔生育现象的成因及对家庭生活影响的案例分析%Case Analysis of Large Childbearing Interval and the Influences on Families

    Institute of Scientific and Technical Information of China (English)

    陈寅欢

    2015-01-01

    大间隔生育现象以人口的自然生育间隔为基础,在现代社会的诸多社会因素的影响下,越来越受到学界的重视。本文根据在某省农村H地区进行的27个个案访谈,发现了大间隔生育现象主要发生在父母于1965到1975年间出生的家庭,且大间隔生育的产生受到经济条件改善、农村养老缺乏保障、独生子女亲属支持网薄弱、邻里家庭生育选择带动、“以大带小”养育方式减轻负担、性别偏好推动、情感需求需要得到满足7方面的作用。同时,大间隔生育会加重家庭预期经济压力、对父母和一孩与二孩的关系产生双向的影响。%The large interval of childbearing becomes more and more popular research topics in China’s population studies. The individual interviews of 27 families in H area show that the parents with large childbearing interval were born between 1965 and 1975. The causes for large interval childbearing are affected by 7 types of reasons such as economy condition improvement, deficiency of social security in the rural, too weak kin-support network for single child, the influence of neighborhood, the advantage of taking care of the small children by the big, sex preference, emotion support. The large interval of childbearing aggravates the expected economic pressure of family and bring about mutual impacts on the relationship among the parents, the first child and the second child in the family.

  16. KSF of family business

    OpenAIRE

    Boroš, Petr

    2014-01-01

    Family business is a business in which family members have a large stake in ownership and also a deciding vote on business operation. This thesis deals with what makes the family businesses thriving. The research is conducted using the Good to Great framework by Jim Collins. Based mainly on quantitative and qualitative survey of 8 Czech companies of various fields and sizes, it was discovered that there are some links between the companies' success. These findings yield a set of recommendatio...

  17. 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 INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: In this study, associations of the MTHFR Glu429Ala polymorphism with OS and the ERCC5 His46His polymorphism with DFS were identified in two colorectal

  18. 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

  19. Family Therapy

    Science.gov (United States)

    ... may be credentialed by the American Association for Marriage and Family Therapy (AAMFT). Family therapy is often short term. ... challenging situations in a more effective way. References Marriage and family therapists: The friendly mental health professionals. American Association ...

  20. Familial hypertriglyceridemia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000397.htm Familial hypertriglyceridemia To use the sharing features on this page, please enable JavaScript. Familial hypertriglyceridemia is a common disorder passed down through families. ...

  1. Family Meals

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Family Meals KidsHealth > For Parents > Family Meals Print A ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  2. 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 ...

  3. 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 ...

  4. 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.

  5. Synthesis, structure, and magnetism of a family of heterometallic {Cu2Ln7} and {Cu4Ln12} (Ln = Gd, Tb, and Dy) complexes: the Gd analogues exhibiting a large magnetocaloric effect.

    Science.gov (United States)

    Langley, Stuart K; Moubaraki, Boujemaa; Tomasi, Corrado; Evangelisti, Marco; Brechin, Euan K; Murray, Keith S

    2014-12-15

    The syntheses, structures, and magnetic properties of two heterometallic Cu(II)-Ln(III) (Ln(III) = Gd, Tb, and Dy) families, utilizing triethanolamine and carboxylate ligands, are reported. The first structural motif displays a nonanuclear {Cu(II)2Ln(III)7} metallic core, while the second reveals a hexadecanuclear {Cu(II)4Ln(III)12} core. The differing nuclearities of the two families stem from the choice of carboxylic acid used in the synthesis. Magnetic studies show that the most impressive features are displayed by the {Cu(II)2Gd(III)7} and {Cu(II)4Gd(III)12} complexes, which display a large magnetocaloric effect, with entropy changes -ΔSm = 34.6 and 33.0 J kg(-1) K(-1) at T = 2.7 and 2.9 K, respectively, for a 9 T applied field change. It is also found that the {Cu(II)4Dy(III)12} complex displays single-molecule magnet behavior, with an anisotropy barrier to magnetization reversal of 10.1 K.

  6. Putting the "family" back into family therapy.

    Science.gov (United States)

    Breunlin, Douglas C; Jacobsen, Elizabeth

    2014-09-01

    In this article, we examine the field of family therapy by drawing a distinction between two forms of practice: Whole Family Therapy (WFT), defined as treating the whole family, and Relational Family Therapy (RFT), defined as working with a subsystem of the family or an individual while retaining a systemic lens. Our thesis is that the practice of WFT has been in decline for some time and steps must be taken to keep it from becoming a defunct practice. We consider the trajectory of WFT and RFT throughout the development of family therapy through reference to the people, the literature, training, and practice patterns associated with family therapy. We remind the reader of the many benefits of WFT and suggest that today WFT is likely to be practiced in conjunction with RFT and individual therapy. Since training of family therapists today is largely located in degree-granting programs, we identify constraints to including WFT in such programs. We conclude by offering suggestions that can enhance a program's ability to train students in WFT. © 2014 FPI, Inc.

  7. 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…

  8. 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…

  9. Maternally inherited hypertension is associated with mitochondrial DNA point mutation in a large Chinese family%线粒体DNA点突变有关的中国大家族母系遗传性高血压研究

    Institute of Scientific and Technical Information of China (English)

    孙俊芳; 高进辽; 李宗斌; 蓝云峰; 杨洁; 李泱; 刘昱圻

    2013-01-01

    Objective To investigate the clinical and genetic characteristics of a large Chinese family with maternally inherited hypertension. Methods The mitochondrial DNA point mutation was detected by sequence analysis in 1865 patients with essential hypertension. Then the families were followed up, and the clinical data were collected for statistical analysis. Results The morbidity of hypertension in the maternal members was up to 55.6%, while that of the non-maternal members was only 15.6% (P 0.05). Conclusion The morbidity of hypertension is higher in maternal members than in non-maternal members. Genetic analysis shows that it is a family with maternally inherited hypertension, which may be related with mitochondrial DNA point mutation. Our findings suggest that mitochondrial DNA mutation may be associated with maternally inherited hypertension, and play an important role in the incidence of hypertension.%目的 研究具有母系遗传性特点的原发性高血压中国大家系临床与遗传学特点.方法 对入选的1865例原发性高血压患者进行线粒体DNA测序分析,发现线粒体DNA点突变,对其进行家系随访,收集该家系成员临床资料进行分析,分析其遗传学特点.结果 该家系中母系成员高血压患病率高达55.6%,非母系成员高血压患病率15.6%(P0.05);结论该家系母系成员高血压发病率明显高于非母系成员,该家系符母系遗传特点,高血压发病与线粒体DNA突变有关,提示线粒体DNA突变可能与母系遗传性高血压发病有关,在高血压发病中发挥重要作用.

  10. 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.

  11. 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.

  12. Familial dermographism.

    Science.gov (United States)

    Jedele, K B; Michels, V V

    1991-05-01

    Urticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias, dermographism, is a localized urticarial response to stroking or scratching of the skin and has not been reported previously to be familial. A four-generation family with dermographism, probably inherited as an autosomal dominant trait, is presented along with a discussion of sporadic dermographism and other types of familial physical urticarias.

  13. 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.

  14. Development and characterisation of 20 microsatellite loci isolated from the large bent-wing bat, Miniopterus schreibersii (Chiroptera: Miniopteridae) and their cross-taxa utility in the family Miniopteridae.

    Science.gov (United States)

    Wood, Rebecca; Weyeneth, Nicole; Appleton, Belinda

    2011-07-01

    The large bent-wing bat, Miniopterus schreibersii (Kuhl 1819), has a long history of taxonomic uncertainty and many populations are known to be in a state of decline. Microsatellite loci were developed for the taxonomic and population genetic assessment of the Australian complex of this species. Of the 33 primer sets designed for this research, seven (21%) were deemed suitably polymorphic for population-level analyses of the Australian taxa, with five (71%) of these loci revealing moderate to high levels of polymorphism (PIC = 0.56 to 0.91). The cross-taxa utility of the M. schreibersii microsatellite markers was assessed in the microbat (Chiroptera) family Miniopteridae. Sub-species and species covering the Miniopteridae's global distribution (with the exception of the Middle East) were selected, numbering 25 taxa in total. Amplification was successful for 26 loci, of which 20 (77%) were polymorphic. High cross-taxa utility of markers was observed with amplification achieved for all taxa for between four (20%) and 20 (100%) loci, and polymorphism was considered moderate to high (PIC = 0.47-0.91) for 12 (60%) of these loci. The high cross-taxa utility of the microsatellites reported herein reveal versatile and cost-effective molecular markers, contributing an important genetic resource for the research and conservation of Miniopteridae species worldwide.

  15. The Family Saprospiraceae

    DEFF Research Database (Denmark)

    McIlroy, Simon Jon; Nielsen, Per Halkjær

    2014-01-01

    The Saprospiraceae, a family within the order Sphingobacteriales and the phylum Bacteroidetes, embrace the genera Saprospira, Lewinella, Haliscomenobacter, Aureispira, ‘‘Rubidimonas,’’ and ‘‘Portibacter.’’ The composition of the family, and delineation of genera and species, is largely defined...... associated with predation of other bacteria and algae. Family members are likely important in the breakdown of complex organic compounds in the environment. Such a role is at least demonstrated in situ for activated sludge wastewater treatment systems where these organisms are frequently observed...

  16. Ethnic family structure.

    Science.gov (United States)

    Mcdonald, P

    1989-04-01

    Using information from large-scale statistical collections and elaborations from ethnographic studies, this paper examines the underlying social processes and structures of migrant families in Australia. Migrants in Australia are often confronted by family values and behavior which run counter to their own. For some migrants, particularly those from the United Kingdom and Western European countries, there is little conflict as Australian family values and behavior approximate their own; the feminine conception of the family is not foreign to them. On the other hand, migrants from Mediterranean countries and from Asia are likely to face a clash between the masculine conception of the family and the dominant feminine conception they find in Australia. Economic structure also often forces an accommodation to the feminine conception of the family. For example, migrant women in Australia are heavily involved in the work force outside the family circle, and, in the main, have relatively low fertility. Age at marriage is increasing and many single women of migrant origin are being educated at the tertiary level and are working before marriage. These changes necessarily expose women and youths to the dominant social values and increase their economic independence, thus disrupting the conventional male family authority. There is evidence of a degree of accommodation to Australian patterns of behavior in migrant groups more inclined to a masculine conception of the family. In other areas, however, which are less directly related to economic pressure, migrant values have been far less accommodating. There is still a high level of endogamy, the 1st birth occurs soon after marriage, divorce rates are low, and the aged are very likely to live with their children. Large migrant groups have been able to maintain these patterns of behavior through the formation of ethnic substructures that form their principal social environment. In the longer term, however, their children are

  17. 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....

  18. My Family

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Everyone has a family.We live in it and feel very warm.There are three persons in my family,my mother,father and I.We live together very happily and there are many interesting stories about my family. My father is a hard-working man.He works as a doctor.He always tries his best to help every,patient and make patients comfortable.But sonetimes he works so hard

  19. 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....

  20. 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 ikke...... 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....

  1. A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

    Directory of Open Access Journals (Sweden)

    Torrezan Giovana

    2012-07-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is a hereditary colorectal cancer syndrome caused by a loss of function of the APC gene. Large deletions in APC are a common cause of FAP; despite the existence of a variety of gene dosage detection methodologies, most are labor intensive and time and resource consuming. Methods We describe a new duplex qPCR method for gene dosage analysis based on the coamplification of a target and a reference gene in a SYBR Green reaction, followed by a comparison of the ratio between the target and the reference peaks of the melting curve for the test (patient and control samples. The reliability of the described duplex qPCR was validated for several genes (APC, HPRT1, ATM, PTEN and BRCA1. Results Using this novel gene dosage method, we have identified an APC gene deletion in a FAP patient undergoing genetic testing. Comparative genomic hybridization based on microarrays (aCGH was used to confirm and map the extent of the deletion, revealing a 5.2 MB rearrangement (5q21.3-q22.3 encompassing the entire APC and 19 additional genes. Conclusion The novel assay accurately detected losses and gains of one copy of the target sequences, representing a reliable and flexible alternative to other gene dosage techniques. In addition, we described a FAP patient harboring a gross deletion at 5q21.3-q22.3 with an unusual phenotype of the absence of mental impairment and dysmorphic features.

  2. Small Families

    Science.gov (United States)

    ... easier for both parents to combine careers with family life. The general stress level is lower because there often are fewer ... can help replace the missing ties. For many families, religious congregational ... such as youth and neighborhood activity centers also can fulfill these ...

  3. FAMILY PLATYSTOMATIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli

    2016-06-14

    Platystomatidae (Signal Flies) are one of the largest families of Tephritoidea, with about 1200 species and four subfamilies, worldwide distributed. However, Platystomatidae are not well represented in the New World, and in the Neotropical Region only four genera and 26 species, belonging to Platystomatinae, are recorded. The family is a group understudied in Colombia and only one species is recorded to the country.

  4. 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...

  5. Family Disruptions

    Science.gov (United States)

    ... stay angry, or avoid fights altogether? Your children model themselves on you. Departures and Returns Do you or your spouse frequently travel on business? These can be disruptive times for your child and for the family ...

  6. Familial hypercholesterolemia

    Science.gov (United States)

    ... hypercholesterolemia or early heart attacks High level of LDL cholesterol in either or both parents People from families ... called fibroblasts to see how the body absorbs LDL cholesterol Genetic test for the defect associated with this ...

  7. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    OBJECTIVES: To relate illness and family factors to emotional and behavioural problems in school-age children (7–14 years old) of parents with acquired brain injury and their healthy spouses. PARTICIPANTS, MATERIALS/METHODS: Members of 35 families in which a parent had been diagnosed with acquired...... 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

  8. Recent incidence of type 1 diabetes mellitus in children 0–14 years in Newfoundland and Labrador, Canada climbs to over 45/100,000: a retrospective time trend study

    Directory of Open Access Journals (Sweden)

    Newhook Leigh A

    2012-11-01

    Full Text Available Abstract Background To study and update the provincial incidence of type 1 diabetes mellitus (T1DM in Newfoundland and Labrador (NL, a province of Canada with a very high incidence previously reported in 2006, and one of the highest incidences reported worldwide. This is a retrospective time trend study of the incidence of T1DM, in children aged 0–14 years from 1987–2010 inclusive. Findings Over the study period 931 children aged 0–14 years were diagnosed with T1DM. The incidence of T1DM in this population over the period 1987 – 2010 inclusive was 37.7 per 100,000 per year (95% CI 35. 3, 40.2 The incidence from 2007–2010 was 49.9 per 100,000 per year (95% CI 42.2, 57.6. The incidence over this 24 year period increased by a factor of 1.03 per 100,000 per year. Conclusion NL has one of the highest incidences of T1DM reported worldwide. Potential reasons for the very high incidence could be related to the unique genetic background of the population, northern latitude and vitamin D insufficiency, low breastfeeding rates, and high rates of cesarean section.

  9. Male Knowledge, Attitudes, and Family

    African Journals Online (AJOL)

    Path-analytic decompositions of the effects of predictor variables show that éducation has the largest direct and total effects on .... theory also emphasises the value of large families ..... Consequently, there is the need to achieve a goal.

  10. Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness%母系遗传耳聋大家系的线粒体基因组全序列分析

    Institute of Scientific and Technical Information of China (English)

    张海军; 徐春宏; 张艺飓; 赵苏瑛; 单云峰; 耿雪侠; 单祥年

    2005-01-01

    Objective To ascertain whether other variations coexist with 1555(A→G) mutation in the mitochondrial DNA and may aggravate the severity of hearing loss or increase the penetrance of 1555(A→G) mutation in a large family with maternally inherited nonsyndromic deafness in Huaiyin, Jiangsu province. Methods PCR-restriction fragment length polymorphism (PCR-RFLP) was used to screen both the nt1555 and the nt7445 of the mitochondrial DNA from 27 maternal members in the core family; and then the mitochondrial genomes from two maternal members, and the 12S rRNA genes MTRNR1 and tRNA-Ser(UCN) gene MTTS1 from the others, were amplified by PCR-RFLP and were sequenced. Results 1555(A→G) mutation in the mitochondrial DNA was reverified to be one of the major factors which cause maternally inherited nonsyndromic deafness and the cosegregation of 955-960(insC) and 1555(A→G) was present in this family. Moreover,7449 (insG), a novel homoplasmic mutation in the tRNA-Ser(UCN) gene, was found to co-exist with 1555(A→G) mutation in two maternal members. Conclusion The cosegregation of 955-960(insC) and 1555(A→G) implies that 955-960(insC) may synergistically cause hearing loss in the presence of an 1555(A→G) mutation,serving as an aggravating factor to enhance the sensitivity to aminoglycosides, and may sometimes increase the penetrance of 1555(A→G) mutation.%目的在江苏淮阴一母系遗传非综合征型耳聋大家系中,寻找线粒体基因组上可能影响1555(A→G)突变表型的其他位点突变. 方法采用聚合酶链反应-限制性片段长度多态性分析 (PCR-restriction fragment length polymorphism, PCR-RFLP) 和测序技术,检测了核心分支家系中27名母系成员的线粒体DNA上1555位点和7445位点的碱基变化,进而对该家系2名母系成员的线粒体全基因组和其他25名母系成员线粒体12S rRNA基因 MTRNR1和tRNA-Ser(UCN)基因 MTTS1进行了全长测序. 结果再次证明了1555(A→G)突变是该家系成员

  11. Families in the Military

    Science.gov (United States)

    ... Contents Facts For Families Guide - View by Topic Chinese Facts for Families Guide Facts For Families Guide - Search Spanish Facts for Families Guide Facts for Families - Vietnamese Military Families No. 88; updated March 2017 Global conflict ...

  12. Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.

    Science.gov (United States)

    Falchetti, Alberto; Di Stefano, Marco; Marini, Francesca; Ortolani, Sergio; Ulivieri, Massimo Fabio; Bergui, Simona; Masi, Laura; Cepollaro, Chiara; Benucci, Maurizio; Di Munno, Ombretta; Rossini, Maurizio; Adami, Silvano; Del Puente, Antonio; Isaia, Giancarlo; Torricelli, Francesca; Brandi, Maria Luisa

    2009-01-01

    Families affected by Paget's disease of bone frequently harbor mutations in the SQSTM1/p62 gene. In this multicentric study we collected 345 sporadic and 12 familial PDB cases throughout Italy, identifying 12 different mutations, 5 of which are newly reported and 3, D335E, A381V, and Y383X, external to the UBA domain. Subjects with truncating mutations, E396X, showed a significantly younger age at clinical diagnosis, while the Y383X subjects had a higher average number of affected skeletal sites. All the mutants exhibited the CGTG-H2 haplotype. In two pairs and one triad of unrelated Italian PDB families from different Italian regions, we detected a common SQSTM1/p62 mutation for each P392L, M404V, and G425R group. Since the CGTG-H2 haplotype frequency was also high in normal subjects, and genetic influence due to migratory fluxes of different ethnic groups exists in the Italian population, to refine the search for a more geographically specific founder effect, we extended the haplotype analysis in these families using polymorphic microsatellite repeat markers, within and flanking the SQSTM1/p62 locus, from chromosome 5q35, other than the exon 6 and 3'UTR polymorphisms. All mutant carriers from two of the three M404V families and from the G425R families exhibited common extended chromosome 5q35 haplotypes, IT01 and IT02, respectively, which may be reflecting influences of past migrations. This may be helpful in estimating the true rate of de novo mutations. We confirm the data on the existence of both a mutational hotspot at the UBA domain of SQSTM1/p62 and a founder effect in the PDB population.

  13. Family Literacy

    Directory of Open Access Journals (Sweden)

    Livija Knaflič

    1999-12-01

    Full Text Available Research in child and adult literacy demonstrates that the achievement and the level of literacy that children attain at school is connected with the social and cultural characteristics and the level of literacy of the child's family. This intergenerational transfer of the level of literacy has motivated the search for different ways of improving the level of literacy.The concept of family literacy is based on the assumption that a higher level of parent literacy means that the children may achieve the same, and it also offers better schooling prospects. Family literacy programmes help fami­lies to develop different activities, in­cluding reading and writing skills, both in their community and in everyday life.

  14. 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,...

  15. Evaluating noninvasive genetic sampling techniques to estimate large carnivore abundance.

    Science.gov (United States)

    Mumma, Matthew A; Zieminski, Chris; Fuller, Todd K; Mahoney, Shane P; Waits, Lisette P

    2015-09-01

    Monitoring large carnivores is difficult because of intrinsically low densities and can be dangerous if physical capture is required. Noninvasive genetic sampling (NGS) is a safe and cost-effective alternative to physical capture. We evaluated the utility of two NGS methods (scat detection dogs and hair sampling) to obtain genetic samples for abundance estimation of coyotes, black bears and Canada lynx in three areas of Newfoundland, Canada. We calculated abundance estimates using program capwire, compared sampling costs, and the cost/sample for each method relative to species and study site, and performed simulations to determine the sampling intensity necessary to achieve abundance estimates with coefficients of variation (CV) of sampling was effective for both coyotes and bears and hair snags effectively sampled bears in two of three study sites. Rub pads were ineffective in sampling coyotes and lynx. The precision of abundance estimates was dependent upon the number of captures/individual. Our simulations suggested that ~3.4 captures/individual will result in a sampling was more cost-effective for sampling multiple species, but suggest that hair sampling may be less expensive at study sites with limited road access for bears. Given the dependence of sampling scheme on species and study site, the optimal sampling scheme is likely to be study-specific warranting pilot studies in most circumstances. © 2015 John Wiley & Sons Ltd.

  16. Different risk of deep vein thrombosis and pulmonary embolism in carriers with factor V Leiden compared with non-carriers, but not in other thrombophilic defects. Results from a large retrospective family cohort study

    NARCIS (Netherlands)

    Makelburg, Anja B. U.; Veeger, Nic J. G. M.; Middeldorp, Saskia; Hamulyak, Karly; Prins, Martin H.; Buller, Harry R.; Lijfering, Willem M.

    2010-01-01

    The term factor V Leiden (FVL) paradox is used to describe the different risk of deep vein thrombosis and pulmonary embolism that has been found in carriers of FVL. In a thrombophilic family-cohort, we estimated differences in absolute risks of deep vein thrombosis and pulmonary embolism for various

  17. 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...

  18. Family Circle

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Foster care is conducive to giving orphaned children a better life For most children living in orphanages, having a real home is just a pipe dream. Although they may be well looked after, receive a good education and proper nutrition, the love and care that come from being part of a real family just aren't there.

  19. My Family

    Institute of Scientific and Technical Information of China (English)

    刘才来

    2002-01-01

    There are four people in my family. They are grandma, father,mother and I. Now we all live in Wuhan. They are from different places. My grandma comes from Sichuan. She likes hot(辣4的) meat very much. She doesn't like bread or noodles at all. She likes vegetables a little. My father is from Guang Zhou.

  20. My Family

    Institute of Scientific and Technical Information of China (English)

    李梅

    2012-01-01

    There are four people in my family--my parents, my brother and I. My name is Li Mei. I'm fifteen years old. I am of medium height and build. I like English very much. It's very interesting. I can play the piano very well. It makes me feel very happy.

  1. Finding Family

    Institute of Scientific and Technical Information of China (English)

    LIU YUNYUN

    2010-01-01

    @@ It took 14 years--and just two min-utes-for an adopted Chinese girl to find her biological family. July 21 this year marked the first anniversary of Haley Butler's finding of her biological parents in Maanshan in east China's Anhui Province.

  2. FAMILY RICHARDIIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli; Ale-Rocha, Rosaly

    2016-06-14

    Richardiidae are a family of "acalyptrate" Diptera represented by ca. 180 species distributed in the New World, mostly in the Neotropical region. The species that occur in Colombia have received little attention from taxonomists, and the great majority of them are known only from their type localities. Currently, 14 genera and 23 species are known to occur in the country.

  3. 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....

  4. Finding Family

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Discovering her birth parents was an exciting adventure for a 15-year-old girl It took 14 years-and just two minutes-for an adopted Chinese girl to find her biological family.July 21 this year marked the first

  5. 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...

  6. 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....

  7. Family planning Indonesia.

    Science.gov (United States)

    Singarimbun, M

    1968-06-01

    The growth of family planning activities in Indonesia in the Postwar period is traced; and future prospects for family planning are assessed. Transmigration projects initiated by the Dutch and supported by President Sukarno after Indonesian independence as a means of decreasing population pressure on the island of Java, are identified as the only official response to the population problem until 1965. In the face of the government's opposition to the idea of birth control as a population control measure, the activities of the Indonesian Planned Parenthood Association (IPPA) after its founding in 1957 were limited to advising mothers on spacing of their children for health reasons. Statements made in support of a national family planning program by government officials at a 1967 IPPA Congress and on other occasions are noted. The major components of an approved national family planning program to start in 1969 are described. However, the government's policy as of late 1967 and early 1968 is characterized as one of mainly benevolent encouragement and help to voluntary organizations. The chief impediment to family planning in Indonesia is said to be a lack of motivation and the force of traditional values that favor large families. On the positive side are: 1) Studies showing considerable interest in birth control by the rural population; 2) A long history of traditional birth control practices; 3) The absence of outright opposition by religious groups to the principle of family planning. However, financial costs, the need for the training of personnel, and a general unawareness of the magnitude of the task lying ahead constitute other formidable obstacles.

  8. Familial pituitary adenomas.

    Science.gov (United States)

    Vandeva, S; Vasilev, V; Vroonen, L; Naves, L; Jaffrain-Rea, M-L; Daly, A F; Zacharieva, S; Beckers, A

    2010-12-01

    Pituitary adenomas are benign intracranial neoplasms that present a major clinical concern because of hormonal overproduction or compression symptoms of adjacent structures. Most arise in a sporadic setting with a small percentage developing as a part of familial syndromes such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and the recently described familial isolated pituitary adenomas (FIPA) and MEN-4. While the genetic alterations responsible for the formation of sporadic adenomas remain largely unknown, considerable advances have been made in defining culprit genes in these familial syndromes. Mutations in MEN1 and PRKAR1A genes are found in the majority of MEN1 and CNC patients, respectively. About 15% of FIPA kindreds present with mutations of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Mutations in the CDKN1B gene, encoding p27(Kip)¹ were identified in MEN4 cases. Familial tumours appear to differ from their sporadic counterparts not only in genetic basis but also in clinical characteristics. Evidence suggests that, especially in MEN1 and FIPA, they are more aggressive and affect patients at younger age, therefore justifying the importance of early diagnosis. In this review, we summarize the genetic and clinical characteristics of these familial pituitary adenomas.

  9. Family focused nursing education

    Directory of Open Access Journals (Sweden)

    R. A. E. Thompson

    1993-05-01

    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. 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.

  11. The case of the missing Ceres family

    Science.gov (United States)

    Rivkin, Andrew S.; Asphaug, Erik; Bottke, William F.

    2014-11-01

    Ceres is unusual among large (>250 km) asteroids in lacking a dynamical family. We explore possible explanations, noting that its particularly large size and the ubiquity of families associated with other large asteroids makes avoidance of a sufficiently-sized collision by chance exceedingly unlikely. Current models of Ceres' thermal history and interior structure favor a differentiated object with an icy near-surface covered by an ∼0.1-1 km lag deposit, which could result in a collisional family of diverse, predominately icy bodies. We predict that sublimation of an icy Ceres family would occur on timescales of hundreds of millions of years, much shorter than the history of the Solar System. Sublimation on a Ceres family body would be aided by a low non-ice fraction and a high average temperature, both of which would inhibit lag deposit development. Because there seems to be no likely mechanism for removing a rocky Ceres family, and because the formation of a Ceres family of some kind seems nearly statistically inevitable, the lack of a Ceres family is indirect but independent evidence for Ceres' differentiation. All of the other large asteroids lacking dynamical families (704 Interamnia, 52 Europa, and 65 Cybele) have spectral properties similar to Ceres, or otherwise suggesting ice at their surfaces. While other large asteroids with similar spectral properties do have families (24 Themis, 10 Hygiea, 31 Euphrosyne), their families are not well understood, particularly Hygiea.

  12. Learning about Familial Hypercholesterolemia

    Science.gov (United States)

    ... terms used on this page Learning About Familial Hypercholesterolemia What is familial hypercholesterolemia? What are the symptoms ... Additional Resources About Familial Hypercholesterolemia What is familial hypercholesterolemia? Familial hypercholesterolemia is an inherited condition that causes ...

  13. Natural Family Planning

    Science.gov (United States)

    ... Sex and Birth Control Birth Control Natural Family Planning Natural Family Planning Birth ControlPrevention and WellnessSex and Birth Control Share Natural Family Planning Natural Family PlanningWhat is natural family planning?Natural ...

  14. [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

  15. Large deviations

    CERN Document Server

    Hollander, Frank den

    2008-01-01

    This book is an introduction to the theory and applications of large deviations, a branch of probability theory that describes the probability of rare events in terms of variational problems. By focusing the theory, in Part A of the book, on random sequences, the author succeeds in conveying the main ideas behind large deviations without a need for technicalities, thus providing a concise and accessible entry to this challenging and captivating subject. The selection of modern applications, described in Part B of the book, offers a good sample of what large deviation theory is able to achieve

  16. My family

    Institute of Scientific and Technical Information of China (English)

    陈君怡

    2011-01-01

    I have a happy fam_ly.Lookthis is my family photo.This is mydad.He often wears a pair Ofglasses(戴着一副眼镜I_This ismy mum.She is very pretty.Sheloves me very much.The little girlin a red blouse is me.I’m smiling(微笑).I love my family.

  17. The clinical features and genetic diagnosis in a large olivopontocerebellar atrophy type 1 family%橄榄桥脑小脑萎缩一家系的临床和遗传学研究

    Institute of Scientific and Technical Information of China (English)

    郭洪; 史树贵; 白云; 陈康宁; 傅勇; 胡华梅; 王凯

    2010-01-01

    Objective To make clinical and genetic diagnosis of members within a family with an autosomal dominant olivopontocerebellar atrophy, and to analyze the relationship between clinical features and genotype. Methods Pedigree analysis, the neurological examination, accessory test like brain MRI, and the molecular genetic analysis of the coding region of SCA1(spinocerebellar ataxia type 1)、SCA3 、SCA7 、SCA12 and DRPLA(dentatorubral and palliodoluysian atrophy). Results The family manifested an autosomal dominant inheritance. In the two typical patients, brain MRI showed remarkable atrophy on cerebellum、brain stem and pons varolii. The CAG lengths of SCA3 、SCA7、SCA12 and DRPLA were normal in all family members. CAG repeat sizes of SCA1 ranged from 29 to 37 repeats in 10 healthy controls and 4 unaffected family members, whereas in the two patients, Ⅳ3 and Ⅳ7, the mutated allele were 53 and 67 respectively. The daughter of Ⅳ3 was diagnosed as presymptomatic SCA1 patient, due to the fact that she carries the mutated allele 57. Conclusion This family was genetically and clinically diagnosed to be autosomal dominant SCA1. The clinical features of SCA1 are heterogeneous, so genetic diagnosis is very important.%目的 对一个常染色体显性遗传橄榄桥脑小脑萎缩(olivopontocerebellar atrophy,OPCA)家系进行临床诊断,探讨其临床特点并明确其基因诊断.方法 完成家系调查,对包括先证者在内的家系成员进行神经科体检,行头部核磁共振(magnetic resonance imaging,MRI)等辅助检查,并进行基因诊断.结果 该家系呈常染色体显性遗传,其中两例成员有明显异常临床表现,家族史调查显示另有9例有相似临床表现的成员已去世,头部MRI示小脑、脑干以及桥脑萎缩明显.结合家族史、临床表现以及MRI检查结果,其诊断符合橄榄桥脑小脑萎缩.对所有家系成员进行致病基因分析发现,脊髓小脑共济失调2型(spinocerebellar ataxia type 2

  18. Segregation of a latent high adiposity phenotype in families with a history of type 2 diabetes mellitus implicates rare obesity-susceptibility genetic variants with large effects in diabetes-related obesity.

    Directory of Open Access Journals (Sweden)

    Arthur B Jenkins

    Full Text Available BACKGROUND: We recently reported significantly greater weight gain in non-diabetic healthy subjects with a 1(st degree family history (FH+ of type 2 diabetes mellitus (T2DM than in a matched control group without such history (FH- during voluntary overfeeding, implying co-inheritance of susceptibilities to T2DM and obesity. We have estimated the extent and mode of inheritance of susceptibility to increased adiposity in FH+. METHODS: Normoglycaemic participants were categorised either FH+ (≥1 1(st degree relative with T2DM, 50 F/30 M, age 45 ± 14 (SD yr or FH- (71F/51M, age 43 ± 14 yr. Log-transformed anthropometric measurements (height, hip and waist circumferences and lean, bone and fat mass (Dual Energy X-ray Absorptiometry data were analysed by rotated Factor Analysis. The age- and gender-adjusted distributions of indices of adiposity in FH+ were assessed by fits to a bimodal model and by relative risk ratios (RR, FH+/FH- and interpreted in a purely genetic model of FH effects. RESULTS: The two orthogonal factors extracted, interpretable as Frame and Adiposity accounted for 80% of the variance in the input data. FH+ was associated with significantly higher Adiposity scores (p<0.01 without affecting Frame scores. Adiposity scores in FH+ conformed to a bimodal normal distribution, consistent with dominant expression of major susceptibility genes with 59% (95% CI 40%, 74% of individuals under the higher mode. Calculated risk allele frequencies were 0.09 (0.02, 0.23 in FH-, 0.36 (0.22, 0.48 in FH+ and 0.62 (0.36, 0.88 in unobserved T2DM-affected family members. CONCLUSIONS: The segregation of Adiposity in T2DM-affected families is consistent with dominant expression of rare risk variants with major effects, which are expressed in over half of FH+ and which can account for most T2DM-associated obesity in our population. The calculated risk allele frequency in FH- suggests that rare genetic variants could also account for a substantial fraction

  19. Familial reactive perforating collagenosis

    Directory of Open Access Journals (Sweden)

    Bhat Yasmeen

    2009-01-01

    Full Text Available Background: Reactive perforating collagenosis (RPC is one of the rare forms of transepidermal elimination in which genetically altered collagen is extruded from the epidermis. This disease usually starts in early childhood as asymptomatic umbilicated papules on extremities, and the lesions become more conspicuous with age. Aims: The objective of our study was to determine the clinico-pathological features of RPC and the response to various treatment modalities. Methods: Ten patients of RPC, belonging to five different families, were studied clinically. Various laboratory investigations were carried out and diagnosis was made by histopathology of the lesions. Patients were given various topical and oral treatments. Results: RPC is familial in most cases without any definite inheritance pattern. It begins in childhood and the lesions are usually recurrent and become profuse and large with age. Systemic diseases have no role in the onset of lesions. Conclusion: Oral and topical retinoids in combination with emollients is the best treatment option.

  20. 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.

  1. Roles within the Family

    Science.gov (United States)

    ... Life Listen Español Text Size Email Print Share Roles Within the Family Page Content Article Body Families ... family unit, and which rights, privileges, obligations, and roles are assigned to each family member. In most ...

  2. Integrating Family Resilience and Family Stress Theory.

    Science.gov (United States)

    Patterson, Joan M.

    2002-01-01

    The construct, family resilience, is defined differently by practitioners and researchers. This study tries to clarify the concept of family resilience. The foundation is family stress and coping theory, particularly the stress models that emphasize adaptation processes in families exposed to major adversities. (JDM)

  3. Different risk of deep vein thrombosis and pulmonary embolism in carriers with factor V Leiden compared with non-carriers, but not in other thrombophilic defects. Results from a large retrospective family cohort study

    Science.gov (United States)

    Mäkelburg, Anja B.U.; Veeger, Nic J.G.M.; Middeldorp, Saskia; Hamulyák, Karly; Prins, Martin H.; Büller, Harry R.; Lijfering, Willem M.

    2010-01-01

    The term factor V Leiden (FVL) paradox is used to describe the different risk of deep vein thrombosis and pulmonary embolism that has been found in carriers of FVL. In a thrombophilic family-cohort, we estimated differences in absolute risks of deep vein thrombosis and pulmonary embolism for various thrombophilic defects. Of 2,054 relatives, 1,131 were female, 41 had pulmonary embolism and 126 deep vein thrombosis. Annual incidence for deep vein thrombosis in non-carriers of FVL was 0.19% (95%CI, 0.16–0.23), and 0.41% (95%CI, 0.28–0.58) in carriers; relative risk (RR) 2.1 (95%CI, 1.4–3.2). For pulmonary embolism these incidences were similar in carriers and non-carriers 0.07%, respectively; RR 1.0 (95% CI, 0.4–2.5). When co-inheritance of other thrombophilic defects was excluded the RR for deep vein thrombosis in FVL carriers was 7.0 (95%CI, 2.3–21.7) compared to non-carriers and 2.8 (95%CI, 0.5–14.4) for pulmonary embolism. For other thrombophilic defects no such effect was observed. Thus the FVL paradox was confirmed in our study. However, a similar paradox in carriers of other thrombophilic defects was not observed. PMID:20007142

  4. The laminin family.

    Science.gov (United States)

    Aumailley, Monique

    2013-01-01

    Laminins are large molecular weight glycoproteins constituted by the assembly of three disulfide-linked polypeptides, the α, β and γ chains. The human genome encodes 11 genetically distinct laminin chains. Structurally, laminin chains differ by the number, size and organization of a few constitutive domains, endowing the various members of the laminin family with common and unique important functions. In particular, laminins are indispensable building blocks for cellular networks physically bridging the intracellular and extracellular compartments and relaying signals critical for cellular behavior, and for extracellular polymers determining the architecture and the physiology of basement membranes.

  5. Fourth Lepton Family is Natural in Technicolor

    DEFF Research Database (Denmark)

    T. Frandsen, Mads; Masina, Isabella; Sannino, Francesco

    2010-01-01

    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.......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...

  6. Large N

    CERN Document Server

    Hooft, G

    2002-01-01

    In the first part of this lecture, the 1/N expansion technique is illustrated for the case of the large-N sigma model. In large-N gauge theories, the 1/N expansion is tantamount to sorting the Feynman diagrams according to their degree of planarity, that is, the minimal genus of the plane onto which the diagram can be mapped without any crossings. This holds both for the usual perturbative expansion with respect to powers of {tilde g}^2=g^2 N, as well as for the expansion of lattice theories in positive powers of 1/{tilde g}^2. If there were no renormalization effects, the tilde g expansion would have a finite radius of convergence. The zero-dimensional theory can be used for counting planar diagrams. It can be solved explicitly, so that the generating function for the number of diagrams with given 3-vertices and 4-vertices, can be derived exactly. This can be done for various kinds of Feynman diagrams. We end with some remarks about planar renormalization.

  7. Family dinner and adolescent overweight.

    Science.gov (United States)

    Taveras, Elsie M; Rifas-Shiman, Sheryl L; Berkey, Catherine S; Rockett, Helaine R H; Field, Alison E; Frazier, A Lindsay; Colditz, Graham A; Gillman, Matthew W

    2005-05-01

    The purpose of this study was to examine both cross-sectional and longitudinal associations between frequency of family dinner and overweight status in a large sample of 9- to 14-year-old children. We studied a cohort of 7784 girls and 6647 boys, 9 to 14 years of age at baseline in 1996, participating in the Growing Up Today Study. From annual mailed surveys, we calculated BMI from self-reported height and weight and assessed frequency of family dinner over the previous year. We defined "overweight" as age- and sex-specific BMI >85th percentile. We performed multiple logistic regression analyses; the longitudinal analyses assessed the association of previous year family dinner consumption with 1-year incidence of becoming overweight, using prospective data from 1996 through 1999. At baseline in 1996, 16% of participants had family dinner "never or some days," 40% on "most days," and 44% "every day." Across these categories, overweight prevalence for girls was 19.4%, 16.6%, and 16.7% and for boys was 24.6%, 23.3%, and 22.7%, respectively. In cross-sectional analyses, adjusting for potential confounders, the odds of being overweight was 0.85 [95% confidence interval (CI): 0.76, 0.96] among children who ate family dinner on "most days" or "every day" compared with those who ate family dinner "never or some days." In longitudinal multivariate models, the odds ratios between previous year frequency of eating family dinner and 1-year incidence of becoming overweight were 0.95 (95% CI: 0.78, 1.16) and 1.04 (95% CI: 0.85, 1.27) for children who ate family dinner on "most days" and "every day," respectively, compared with those who ate family dinner "never or some days." The frequency of eating family dinner was inversely associated with overweight prevalence at baseline but not with likelihood of becoming overweight in longitudinal analyses.

  8. Large even order character sums

    CERN Document Server

    Goldmakher, Leo

    2012-01-01

    A classical theorem of Paley asserts the existence of an infinite family of quadratic characters whose character sums become exceptionally large. In this paper, we establish an analogous result for characters of any fixed even order. Previously our bounds were only known under the assumption of the Generalized Riemann Hypothesis.

  9. 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.

  10. Psychoanalysis: a dysfunctional family?

    Science.gov (United States)

    Grosskurth, P

    1998-01-01

    The discussion opens with an account of the author's mother's bizarre family in which a strong, charismatic grandmother maintained absolute control over her large family by encouraging a neurotic dependence in them through daily reports of their complaints. Getting interested in psychoanalysis in an effort to understand the dynamics of this dysfunctional family, the author, a biographer, turned to the study of Melanie Klein, becoming entranced by her ideas. Her research also revealed how Klein had discouraged her followers from developing ideas that diverged in any way from her own. Her portrait of the pioneer analyst provoked intense indignation. A similar pattern of absolute loyalty to his person and theories was to be found in Freud's Secret Committee, formed primarily as a means of getting rid of Jung who had been showing disturbing signs of independence. When Ferenczi and Rank began to pursue independent lines of enquiry in their work, they too were though to be undermining the foundations of classical psychoanalysis. Finally, the author concludes that though there have been sorry incidents in psychoanalysis, we should be mature enough to accept both the contributions of the early pioneers and the realizations that new ideas must be permitted to evolve.

  11. Family and family therapy in Russia.

    Science.gov (United States)

    Bebtschuk, Marina; Smirnova, Daria; Khayretdinov, Oleg

    2012-04-01

    This article represents the information about family and family therapy in the context of culture, traditions and contemporary changes of social situations in Russia. The legislation of family rights are mentioned within items about marriage and family in the Constitution, Civil Code and Family Code of the Russian Federation which has changed during recent years. The definition of family and description of family structure are given through the prism of the current demographic situation, dynamics of statistics of marriage and divorce rates, mental disorders, disabilities and such phenomena as social abandonment. The actual curriculum, teaching of family therapy and its disadvantages, system of continuous education, supervision and initiatives of the Institute of Integrative Family Therapy in improvement of preparing of specialists who can provide qualified psychosocial assistance for the family according to the actual needs of society are noted. The directions of state and private practice of family counselling and therapy both for psychiatric patients and medical patients, for adults and children in a family systemic approach are highlighted with an indication of the spectrum of techniques and methods used by Russian professionals. The main obstacles and perspectives of development of family therapy in Russia are summarized.

  12. Fiscal austerity, unemployment and family firms

    OpenAIRE

    Munkacsi, Zsuzsa

    2015-01-01

    I calculate unemployment multipliers of fiscal consolidation policies in a standard, closed-economy New Keynesian framework with search and matching frictions, and, as an innovation, in the presence of sectoral heterogeneity. Family and non-family firms behave differently in the labor market and are differently managed. This latter assumption is modeled by the inclusion of intangible capital in the family sector. The model is calibrated to match European data on countries with a large percent...

  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. Family Reading Night

    Science.gov (United States)

    Hutchins, Darcy; Greenfeld, Marsha; Epstein, Joyce

    2007-01-01

    This book offers clear and practical guidelines to help engage families in student success. It shows families how to conduct a successful Family Reading Night at their school. Family Night themes include Scary Stories, Books We Love, Reading Olympics, Dr. Seuss, and other themes. Family reading nights invite parents to come to school with their…

  15. Family Factors in Small Family Business Growth

    National Research Council Canada - National Science Library

    Jim Cater; Marilyn Young

    2016-01-01

    .... We suggest that while all three patterns of small family business growth may lead to individual company success and sustainability, businesses with units in multiple trade areas may be most adept at managing the six family factors.

  16. Family members' influence on family meal vegetable choices.

    Science.gov (United States)

    Wenrich, Tionni R; Brown, J Lynne; Miller-Day, Michelle; Kelley, Kevin J; Lengerich, Eugene J

    2010-01-01

    Characterize the process of family vegetable selection (especially cruciferous, deep orange, and dark green leafy vegetables); demonstrate the usefulness of Exchange Theory (how family norms and experiences interact with rewards and costs) for interpreting the data. Eight focus groups, 2 with each segment (men/women vegetable likers/dislikers based on a screening form). Participants completed a vegetable intake form. Rural Appalachian Pennsylvania. Sixty-one low-income, married/cohabiting men (n = 28) and women (n = 33). Thematic analysis within Exchange Theory framework for qualitative data. Descriptive analysis, t tests and chi-square tests for quantitative data. Exchange Theory proved useful for understanding that regardless of sex or vegetable liker/disliker status, meal preparers see more costs than rewards to serving vegetables. Experience plus expectations of food preparer role and of deference to family member preferences supported a family norm of serving only vegetables acceptable to everyone. Emphasized vegetables are largely ignored because of unfamiliarity; family norms prevented experimentation and learning through exposure. Interventions to increase vegetable consumption of this audience could (1) alter family norms about vegetables served, (2) change perceptions of experiences, (3) reduce social and personal costs of serving vegetables, and (4) increase tangible and social rewards of serving vegetables. Copyright 2010 Society for Nutrition Education. Published by Elsevier Inc. All rights reserved.

  17. New Images of Children, Families, and America.

    Science.gov (United States)

    Bronfenbrenner, Urie

    1981-01-01

    Deals with the changing patterns of child rearing and family lifestyles in the United States and the significance of these changes for the development of children, families, and society at large. Four "preposterous proposals" describe current conditions for child development and include recommendations for public action. (JJD)

  18. Familial Aggregation and Childhood Blood Pressure

    NARCIS (Netherlands)

    Wang, Xiaoling; Xu, Xiaojing; Su, Shaoyong; Snieder, Harold

    2015-01-01

    There is growing concern about elevated blood pressure (BP) in children. The evidence for familial aggregation of childhood BP is substantial. Twin studies have shown that a large part of the familial aggregation of childhood BP is due to genes. The first part of this review provides the latest prog

  19. Familial Aggregation and Childhood Blood Pressure

    NARCIS (Netherlands)

    Wang, Xiaoling; Xu, Xiaojing; Su, Shaoyong; Snieder, Harold

    There is growing concern about elevated blood pressure (BP) in children. The evidence for familial aggregation of childhood BP is substantial. Twin studies have shown that a large part of the familial aggregation of childhood BP is due to genes. The first part of this review provides the latest

  20. Consuming Family Dinner Time

    National Research Council Canada - National Science Library

    Kelli Gutierrez; Linda Price; Eric Arnould

    2008-01-01

      Our study examines whether and how family dinners are embedded in the centrifugal and centripetal dynamics of everyday family life, the diversity of meanings they have for families and the intentions...

  1. Family Adjustment to Aphasia

    Science.gov (United States)

    ... Public / Speech, Language and Swallowing / Disorders and Diseases Family Adjustment to Aphasia Richard S. was a senior manager ... It also presents a great challenge to the family. There may be tension among family members and ...

  2. 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 ...

  3. 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 ...

  4. 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.

  5. Branding a family business

    OpenAIRE

    Pohjola, Matti

    2016-01-01

    This master’s thesis main object was to understand better the very little researched topic: branding a family business. The main aim was to seek the values used behind family business that are the family values used in the brand and how the branding has been implemented in a family company. A qualitative method was chosen for this research for an interpretative analysis of the subject. Five family companies were chosen for the interviews. All these family companies are known Fi...

  6. Family Health History and Diabetes

    Science.gov (United States)

    ... Diabetes Diabetes Risk Test Family Health History Quiz Family Health History Quiz Family health history is an ... health problems. Four Questions You Should Ask Your Family About Diabetes & Family Health History Knowing your family ...

  7. 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.

  8. 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.

  9. Family psychology and family therapy in Japan.

    Science.gov (United States)

    Kameguchi, K; Murphy-Shigematsu, S

    2001-01-01

    The development of family psychology and family therapy in Japan has occurred mostly since the 1980s. This development was originally activated by the major social issue in contemporary Japan of school refusal, in which more than 127,000 children either overtly refuse to or claim that they cannot go to school. From a family perspective, this problem is analyzed as it relates to the confusion that children experience from unbalanced and unclear boundaries in family relations or "membranes." An approach to family therapy that adapts systems theory and integrates a clay sculpting medium has been developed to work with Japanese families confronting this problem. The design and implementation of preventative family psychology programs applied at the community level are also an important part of the future development in these fields.

  10. Large shareholders and accounting research

    Institute of Scientific and Technical Information of China (English)

    Ole-Kristian; Hope

    2013-01-01

    Large shareholders are a potentially very important element of firms’ corporate governance system. Whereas analytical research is typically vague on who these large shareholders are, in practice there are important variations in the types of large owners(and the different types of large owners could play very different governance roles). After briefly reviewing the standard agency cost arguments, in this article I emphasize the heterogeneity of concentrated ownership and in particular focus on the roles of families, institutions, governments, and employee ownership. I also discuss the role of large shareholders in private(i.e., unlisted) firms, where ownership tends to be more concentrated than in publicly traded firms. Finally, I briefly discuss variations in ownership structures across selected countries.

  11. 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.

  12. [The press and family planning].

    Science.gov (United States)

    Abraham De D'ornellas, R

    1987-01-01

    The treatment in the press of family planning hinges on two fundamental factors: the taboo of the leftist groups and the taboo of the Catholic Church, whose head is against abortion under any circumstances. Leftist views insinuate that family planning is the genocidal plan of North American imperialists against the Third World and, in particular, against Latin America. This genocidal plan is supposed to subject poor populations to international schemes. In the press family planning is often treated in a sanctimonious fashion, lumping it together with topics like pornography, sex, and violence. In 1983 the daily newspaper Expreso published a supplement running every week for almost three months about the issue of population, which dealt fairly extensively with such topics as population and housing, education, employment, and urban proliferation, as well as responsible parenthood and child survival. In addition, there was a detailed description of contraceptive methods. In October 1986 another surprising thing happened: the President of Peru talked about the topic of family planning, which at the time was an act of courage. Since then much has changed; the whole world is interested in family planning and certain aspects of population. Since October 1986 more has been published in this domain than during the preceding 20 years. In contrast, the Church reacted differently to this issue: after some initial caution, the conference of Peruvian bishops attacked all methods of modern contraceptives and private institutions of family planning. The information boom in family planning will certainly continue. At the moment this flood of articles and editorials about the issue is an expression of the anxiety of families related to uncontrolled reproduction and the fear of overpopulation in large cities devoid of minimal services.

  13. Family assessment in the medical setting.

    Science.gov (United States)

    Keitner, Gabor I

    2012-01-01

    Acute and chronic illness exists in a social context. A biopsychosocial assessment should include an evaluation of the patient's social situation, the nature of the patient's interpersonal connections, and his/her family's functioning. Families can influence health by direct biological pathways, health behavior pathways, and psychophysiological pathways. There are a large number of family-based risks factors as well as many protective relational factors that influence the onset and course of illness. A family assessment is the first step in determining both the need for further intervention and the specific areas of family life that might need to be addressed. A family assessment provides information about the social substrate for the evolution of the presenting complaint as well as information to better understand the patient's problems. There are many ways to assess families, and there are a variety of family assessment instruments to help with the assessments. Clinician will be best served by becoming familiar and comfortable with at least one assessment model that is consistent, structured, and evaluates a wide range of family functions. Such an assessment can be incorporated into routine clinical care. A good family assessment can be therapeutic in and of itself even if the decision is made that no further family intervention is indicated. Copyright © 2012 S. Karger AG, Basel.

  14. 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.

  15. Cross-Sperner families

    CERN Document Server

    Gerbner, Dániel; Palmer, Cory; Patkós, Balázs; Szécsi, Vajk

    2011-01-01

    A pair of families $(\\cF,\\cG)$ is said to be \\emph{cross-Sperner} if there exists no pair of sets $F \\in \\cF, G \\in \\cG$ with $F \\subseteq G$ or $G \\subseteq F$. There are two ways to measure the size of the pair $(\\cF,\\cG)$: with the sum $|\\cF|+|\\cG|$ or with the product $|\\cF|\\cdot |\\cG|$. We show that if $\\cF, \\cG \\subseteq 2^{[n]}$, then $|\\cF||\\cG| \\le 2^{2n-4}$ and $|\\cF|+|\\cG|$ is maximal if $\\cF$ or $\\cG$ consists of exactly one set of size $\\lceil n/2 \\rceil$ provided the size of the ground set $n$ is large enough and both $\\cF$ and $\\cG$ are non-empty.

  16. 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) F

  17. 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…

  18. 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) F

  19. 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

  20. Leber’s Inherited Optic Neuropathy: A Large Family

    Directory of Open Access Journals (Sweden)

    Taylan Pekoz

    2012-04-01

    Full Text Available Leber's hereditary optic neuropathy characterized by loss of central vision is often seen in men and a maternally inherited disease. Here, admitted to our clinic with complaints of unilateral visual loss was diagnosed as Leber's hereditary optic neuropathy which was confirmed by the presence of a mutation at 3460G>A position. [Cukurova Med J 2012; 37(2.000: 121-124

  1. Joint-multiple family linkage analysis predicts within-family variation better than single-family analysis of the maize nested association mapping population.

    Science.gov (United States)

    Ogut, F; Bian, Y; Bradbury, P J; Holland, J B

    2015-06-01

    Quantitative trait locus (QTL) mapping has been used to dissect the genetic architecture of complex traits and predict phenotypes for marker-assisted selection. Many QTL mapping studies in plants have been limited to one biparental family population. Joint analysis of multiple biparental families offers an alternative approach to QTL mapping with a wider scope of inference. Joint-multiple population analysis should have higher power to detect QTL shared among multiple families, but may have lower power to detect rare QTL. We compared prediction ability of single-family and joint-family QTL analysis methods with fivefold cross-validation for 6 diverse traits using the maize nested association mapping population, which comprises 25 biparental recombinant inbred families. Joint-family QTL analysis had higher mean prediction abilities than single-family QTL analysis for all traits at most significance thresholds, and was always better at more stringent significance thresholds. Most robust QTL (detected in >50% of data samples) were restricted to one family and were often not detected at high frequency by joint-family analysis, implying substantial genetic heterogeneity among families for complex traits in maize. The superior predictive ability of joint-family QTL models despite important genetic differences among families suggests that joint-family models capture sufficient smaller effect QTL that are shared across families to compensate for missing some rare large-effect QTL.

  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. 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)

  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. 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…

  6. Genetic heterogeneity of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Joutel, A.; Ducros, A.; Vahedi, K. [Faculte de Medecine Necker-Enfants Malades, Paris (France)] [and others

    1994-09-01

    Familial hemiplegic migraine (FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of a transient hemiplegia during the aura. We previously mapped the affected gene to the short arm of chromosome 19, within a 30 cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on 2 large FHM pedigrees did not show evidence of heterogeneity, despite their clinical differences due to the presence in one family of a cerebellar ataxia and a nystagmus. Herein we report linkage data on 9 additional FHM families including 2 other ones with cerebellar ataxia. Analysis was conducted with a set of 7 markers spanning the D19S216-D19S215 interval. Two point and multipoint lodscores analysis as well as HOMOG testing provided significant evidence for genetic heterogenity. Strong evidence of linkage was obtained in 3 families and absence of linkage in 6 families. Thus within the 11 families so far tested, 5 were linked, including those with an associated cerebellar ataxia. We could not find any clinical difference between the {open_quotes}pure{close_quotes} FHM families whether or not they were linked. This study also allowed us to establish that the most likely location of the gene is a 12 cM interval bracketed by D19S413 and D19S226. One of the unlinked family was large enough to conduct genetic mapping of the affected gene. Data will be presented at the meeting.

  7. A Pathogenesis Analysis of SLC26A4 Gene Mutations in 3 Families Associated with Large Vestibular Aqueduct Syndrome%3个大前庭水管综合征家系的SLC26A4致病位点分析

    Institute of Scientific and Technical Information of China (English)

    王淑娟; 梁鹏飞; 王剑; 陈阳; 查定军; 邱建华

    2015-01-01

    目的:分析大前庭水管综合征(large vestibular aqueduct syndrome,LVAS)患者家系的SLC26A4基因突变方式并确定其是否致病。方法采集3个特殊LVAS家系的血样,测序分析SLC26A4基因型。采用在线软件SIFT、Polyphen-2预测这3个家系中所携带的罕见突变方式的致病性,利用排除法证明c.2343+69C>A的非致病性。结果共检出5种突变方式,其中4种为致病性基因突变。先证者基因型为IVS7-2A>G/c.1594A>C,IVS7-2A>G/c.1327G>C,IVS7-2A>G/c.1667A>G,均为LVAS。基因型为c.1594A>C/2343+69C>A,c.1327G>C/c.2343+69C>A,c.1667A>G/c.2343+69C>A的受检者听力正常。结论 SLC26A4基因c.2343+69C>A突变方式是非致病的基因多态;3个家系先证者的父母再次妊娠出现聋儿的风险为25%。%Objective To sequence and analyze the pathogenesis of the mutation of SLC26A4 gene in 3 families of LVAS.Methods Blood samples and clinical data of 3 families of LVAS were collected. A pathogenesis analysis was conducted on the rare genemutation in the families using online software. Using a process of elimination to prove that c.2343+69C>A is benign.Results We detected five SLC26A4 gene mutations from 3 families, and confirmed that four mutations out of them are pathogenic.The genotypes of IVS7-2A>G/c.1594A>C, IVS7-2A>G/c.1327G>C, IVS7-2A>G/c.1667A>G are the probands. The genotypes of c.1594A>C/c.2343+69C>A,c.1327G>C/c.2343+69C>A, c.1667A>G/c.2343+69C>A case have normal hearing.Conclusion According to our results, SLC26A4 c.2343+69C>A is not likely to be a pathogenic mutation.If the parents of any proband of these three families want to rebirth, the newborn might have 25 percent chance to be with EVAS as the proband.

  8. 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.

  9. 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

  10. 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.

  11. Choosing a Family Doctor

    Science.gov (United States)

    ... nav nav, .header-9#header-section #main-nav, #overlay-menu nav, #mobile-menu, #one-page-nav li . ... editorial staff Home Your Health Resources Doctor Visit Preparation Choosing a Family Doctor Choosing a Family Doctor ...

  12. 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......Families of mutually dependent classes that may be accessed polymor- phically provide an advanced tool for separation of concerns, in that it enables client code to use a group of instances of related classes safely without depending on the exact classes involved. However, class families which...... 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....

  13. Familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000408.htm Familial lipoprotein lipase deficiency To use the sharing features on this page, please enable JavaScript. Familial lipoprotein lipase deficiency is a group of rare genetic ...

  14. Familial Mediterranean fever

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000363.htm Familial Mediterranean fever To use the sharing features on this page, please enable JavaScript. Familial Mediterranean fever (FMF) is a rare disorder passed down through ...

  15. Importance of Family Routines

    Science.gov (United States)

    ... Structure Your Child's Nighttime Routine . Weekends: Weekends are good times for family togetherness. You might go grocery shopping as a family, visit museums and zoos, do chores​ that everyone participates in, go on ...

  16. Assessing postpartum family functioning.

    Science.gov (United States)

    Midmer, D; Talbot, Y

    1988-09-01

    The birth of a child requires adaptation and reorganization within the family system in order to accommodate the new family member and to allow the family to continue in its psychosocial development. Knowledge of the normative and transitional changes required at this stage of family life will enhance family practitioners' understanding of some of the common concerns and complaints related to them by various family members during the postpartum period. The Family FIRO model represents a helpful conceptual framework to increase the family physician's understanding of the issues of inclusion, control, and intimacy that are highlighted during the transition to parenthood. The authors briefly present this model and discuss its application to postpartum adjustment and its implications for health-care professionals.

  17. Family Practice Consultation.

    African Journals Online (AJOL)

    gauge the patients' opin:on on the family doctors' role regardirg prayer ... family practice consultation arc presented. ... patients' expectation of prayer and ..... New developments and frequently asked questions covering - high and low BMI, ...

  18. MSUD Family Support Group

    Science.gov (United States)

    ... Group The MSUD Family Support Group is a non-profit 501 (c)(3) organization for those with MSUD ... Family Support Group is a 501(c)(3) non-profit organization with no paid staff. Funds are needed ...

  19. National Military Family Association

    Science.gov (United States)

    ... 931.6632 info@MilitaryFamily.org © 2016 - 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 ...

  20. Familial Episodic Amaurosis

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-08-01

    Full Text Available A family with a stereotyped unilateral or bilateral transient visual loss, that recurred many times daily and was associated with childhood epilepsy and familial hemiplegic migraine, is reported from University Hospitals, Geneva, Switzerland.

  1. 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...

  2. Family Caregiver Alliance

    Science.gov (United States)

    ... on your schedule. Look for our launch soon! FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... County Smart Patients Caregivers Community In partnership with Family Caregiver Alliance Learn more Caregiver Research Veterans suffer ...

  3. Genetic heterogeneity of familial hemiplegic migraine

    Energy Technology Data Exchange (ETDEWEB)

    Joutel, A.; Ducros, A.; Delrieu, O.; Maziaceck, J.; Tournier-Lasserve, E. [INSERUM U25, Paris (France); Vahedi, K. [INSERUM U25, Paris (France)]|[Hopital St. Antoine (France); Bousser, M.G. [Hopital St. Antoine, Paris (France); Ponsot, G. [Hopital St. Vincent de Paul, Paris (France); Gouttiere, F. [Hopital Necker-Enfants Malades, Paris (France); Labauge, P. [Clinique Neurologique du C.H. et U. Montpellier-Nimes (France); Mancini, J. [Hopital de la Timone, Marseille (France)] [and others

    1994-12-01

    Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was >.95 in the first two families and <.01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.

  4. Family and Enterprise

    OpenAIRE

    Fletcher, Denise Elaine

    2006-01-01

    This chapter provides a review of the different approaches that have been utilised to examine the link between family and enterprise. Definitional issues are addressed, as are rationalist and ‘systems’ ways of evaluating the relationship between family and enterprise. Criticism is made of the effects of rationalist thinking on studies of family businesses which have tended to create duality and polarity in our understanding of the family-enterprise relationship. It is argued that a developm...

  5. 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....

  6. 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....

  7. 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.

  8. 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

  9. 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

  10. Does the Gap in Family-Friendly Policies Drive the Family Gap?

    DEFF Research Database (Denmark)

    Nielsen, Helena Skyt; Simonsen, Marianne; Verner, Mette

    2004-01-01

    Segregation of the labour market into a family-friendly and a non-family-friendly sector implies that women self-select into sectors depending on institutional constraints, preferences for family-friendly working conditions and expected wage differences. We take this sector dimension into account...... and find a severe penalty after birth-related leave in the non-familyfriendly sector, so that women who would be affected by this penalty self-select into the family-friendly sector. The penalty is a combination of a large human-capital depreciation effect, a child penalty and no recovery....

  11. Strengths of Remarried Families.

    Science.gov (United States)

    Knaub, Patricia Kain; And Others

    1984-01-01

    Focuses on remarried families' (N=80) perceptions of family strengths, marital satisfaction, and adjustment to the remarried situation. Results indicated that although most would like to make some changes, scores on the measurements used were high. A supportive environment was the most important predictor of family strength and success. (JAC)

  12. Family systems and fertility

    NARCIS (Netherlands)

    Moenkediek, Bastian

    2016-01-01

    This thesis studies the role of regional family organization principles, so called family systems, for explaining fertility behaviours in different parts of Europe. Studying family systems and its impact on fertility is important, because many aspects of societal life, such as the organization of we

  13. Families in Transition.

    Science.gov (United States)

    Britton, Patti O., Ed.; McGee, Michael, Ed.

    1987-01-01

    This issue of "Emphasis" deals with families in transition, providing some model programs for the new family and some historical perspectives on how families have developed over time. Articles include: (1) "Nostalgia on the Right" (Nancy Theriot); (2) "Heart to Heart" (Nancy Harrington-MacLennan); (3) "The Media Get the Message" (Janet Alyn); (4)…

  14. Books in the Family.

    Science.gov (United States)

    Swinger, Alice K.

    1989-01-01

    Opportunities for parents to encourage reading in the family are noted and ways to enhance the reading experience are discussed, including writing letters to book characters, singing combined with reading aloud, supplementing school subjects with enjoyable reading, sharing books at family gatherings, and using family experiences for book…

  15. Single Mothers "Do" Family

    Science.gov (United States)

    Nelson, Margaret K.

    2006-01-01

    This paper explores how single mothers both incorporate others into family life (e.g., when they ask others to care for their children) and simultaneously "do families" in a manner that holds out a vision of a "traditional" family structure. Drawing on research with White, rural single mothers, the author explores the manner in which these women…

  16. Understanding families in India: a reflection of societal changes

    Directory of Open Access Journals (Sweden)

    Reeta Sonawat

    Full Text Available Literature on family studies in India has grown to a large extent in the last two decades, although such studies are scattered. This article presents socio-demographic data on families in India aiming to provide bases for analyzing research, particularly in the area of family development. Indian families are classified as patrilineal and matrilineal according to the lineage or descent by father or mother. The family structure is conceptualized as the configuration of role, power, and status and relationships in the family which depends upon the families socio-economic background, family pattern, and extent of urbanization. Marriage practices are emphasized covering subjects such as marriage patterns, selection of marriage partner, age at marriage, age at consummation of marriage, marriage rituals, financial exchanges and divorce. In spite of urbanization and industrialization in the contemporary Indian society, the family institution continues to play a central role in the lives of people.

  17. Familial aggregation and childhood blood pressure.

    Science.gov (United States)

    Wang, Xiaoling; Xu, Xiaojing; Su, Shaoyong; Snieder, Harold

    2015-01-01

    There is growing concern about elevated blood pressure (BP) in children. The evidence for familial aggregation of childhood BP is substantial. Twin studies have shown that a large part of the familial aggregation of childhood BP is due to genes. The first part of this review provides the latest progress in gene finding for childhood BP, focusing on the combined effects of multiple loci identified from the genome-wide association studies on adult BP. We further review the evidence on the contribution of the genetic components of other family risk factors to the familial aggregation of childhood BP including obesity, birth weight, sleep quality, sodium intake, parental smoking, and socioeconomic status. At the end, we emphasize the promise of using genomic-relatedness-matrix restricted maximum likelihood (GREML) analysis, a method that uses genome-wide data from unrelated individuals, in answering a number of unsolved questions in the familial aggregation of childhood BP.

  18. Phylogenetics and Computational Biology of Multigene Families

    Science.gov (United States)

    Liò, Pietro; Brilli, Matteo; Fani, Renato

    This chapter introduces the study of the major evolutionary forces operating in large gene families. The reconstruction of duplication history and phylogenetic analysis provide an interpretative framework of the evolution of multigene families. We present here two case studies, the first coming from Eukaryotes (chemokine receptors) and the second from Prokaryotes (TIM barrel proteins), showing how functional and structural constraints have shaped gene duplication events.

  19. Corporate reputation and the family business

    OpenAIRE

    Wielsma, Albertha

    2015-01-01

    Corporate reputation is a largely neglected topic in the family firm literature. That neglect is surprising because corporate reputation is found to be an important source of competitive advantage and can therefore be an explanatory factor for firm performance and behaviour. The purpose of this chapter is to contribute to the field of family business by demonstrating the potential of the reputation research in this field. The chapter first introduces the corporate reputation construct and how...

  20. Family traditions and generations.

    Science.gov (United States)

    Schneiderman, Gerald; Barrera, Maru

    2009-01-01

    Currently, traditional family values that have been passed down through generations appear to be at risk. This has significant implications for the stability and health of individuals, families, and communities. This article explores selected issues related to intergenerational transmission of family values and cultural beliefs, with particular reference to Western culture and values that are rooted in Jewish and Christian traditions. It also examines family values and parenting styles as they influence the developing perspective of children and the family's adaptation to a changing world.

  1. Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma%一个表皮松解性掌跖角化症家系KRT9基因的突变研究及产前诊断

    Institute of Scientific and Technical Information of China (English)

    刘宁; 史惠蓉; 孔祥东; 吴庆华; 江淼

    2014-01-01

    Objective To analyze potential mutation in keration 9 (KRT9)gene in a large Chinese family with epidermolytic palmoplantar keratoderma (EPPK) and to perform prenatal diagnosis on the fetus at 10th gestational week.Methods Peripheral venous blood samples were obtained from 5 affected and 8 unaffected individuals of the family.Fifty unrelated healthy individuals were also recruited as controls.PCR was used to amplify exons 1 and 6 of KRT9 gene,and the products were sequenced directly.After the mutation was confirmed,prenatal diagnosis was performed on the fetus during the first trimester of pregnancy.Results A heterozygous missense mutation c.482A>G in the KRT9 gene,which has led to substitution of Asparaginate by Serine at codon 161 (p.N161S),was detected in all patients but not in other individuals of the family and the 50 healthy controls.The fetus was found to have carried the p.N161S mutation too.Following selected abortion,analysis of fetal tissue was consistent with prenatal diagnosis.Conclusion The missense mutation c.482A>G (p.N161S),which has been shown previously to cause EPPK,is found in the KRT9 gene of patients in this family.Gene mutation analysis for prenatal diagnosis is efficient to facilitate detection of affected fetus in time.%目的 确定一个中国汉族表皮松解性掌跖角化症(epidermolytic palmoplantar keratoderma,EPPK)大家系角蛋白9(keration 9,KRT9)基因的突变情况,并对该家系中已孕10周的胎儿进行产前诊断.方法 收集该家系5例患者、8名表型正常的个体和50名无亲缘关系的健康个体的外周血标本,并抽取胎儿的绒毛标本.采用PCR扩增KRT9基因的第1和第6外显子,对PCR产物进行双向测序检测基因突变.致病突变确定后,进一步行产前诊断.结果 在该家系5例患者中均检测出了KRT9基因第1外显子c.482A>G的点突变,该突变导致第161位的天冬酰胺被丝氨酸替代(p.N161S),家系中表型正常人和50名正常对照者均未

  2. Asteroid family ages

    CERN Document Server

    Spoto, Federica; Knezevic, Zoran

    2015-01-01

    A new family classification, based on a catalog of proper elements with $\\sim 384,000$ numbered asteroids and on new methods is available. For the $45$ dynamical families with $>250$ members identified in this classification, we present an attempt to obtain statistically significant ages: we succeeded in computing ages for $37$ collisional families. We used a rigorous method, including a least squares fit of the two sides of a V-shape plot in the proper semimajor axis, inverse diameter plane to determine the corresponding slopes, an advanced error model for the uncertainties of asteroid diameters, an iterative outlier rejection scheme and quality control. The best available Yarkovsky measurement was used to estimate a calibration of the Yarkovsky effect for each family. The results are presented separately for the families originated in fragmentation or cratering events, for the young, compact families and for the truncated, one-sided families. For all the computed ages the corresponding uncertainties are pro...

  3. 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...

  4. 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...

  5. Insecurity, family dynamic and health behavior

    DEFF Research Database (Denmark)

    Ditlevsen, Kia

    2015-01-01

    . In the cross disciplinary field of obesity research, where biomedical world views and large scale quantitative analyzes are dominating, the sociology of health and illness have an important role to play in attempts to understand how structural conditions affect individual and family-level health behavior...... as a recurrent pattern in their life conditions and how it affects family health behavior in relation to weight management. Further, it will theoretically conceptualize the empirical examples of insecurity, using Bauman’s exploration of security, and discuss ways to sociologically grasp why insecurity...... facilitates obesity at family level....

  6. Working mothers: Family-work conflict, job performance and family/work variables

    Directory of Open Access Journals (Sweden)

    Cynthia J Patel

    2006-02-01

    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.

  7. Family violence and psychiatric disorder.

    Science.gov (United States)

    Bland, R; Orn, H

    1986-03-01

    The relationship between family violence and psychiatric disorders was examined using standardized diagnostic interviews of 1200 randomly selected residents of a large Canadian city. The results showed that higher than expected proportions of those exhibiting violent behavior had a psychiatric diagnosis and the rate of violent behaviors in those with diagnoses (54.4%) significantly (p less than .0001) exceeds the rate in the remainder of the sample (15.5%). Particularly high rates of violence are found in those where alcoholism is combined with antisocial personality disorder and/or recurrent depression (80-93%). Also at high risk for violence are those who have made suicide attempts (over 50%) and those who have been arrested for non-traffic offences (two-thirds). These data suggest that psychiatric disorders have a strong relationship to violent behavior, and are not in agreement with the predominantly sociological explanations of family violence.

  8. Familial aspects of male homosexuality.

    Science.gov (United States)

    Dawood, K; Pillard, R C; Horvath, C; Revelle, W; Bailey, J M

    2000-04-01

    Research has generally supported the existence of familial-genetic factors for male sexual orientation, but has not shed much light on the specific nature of those influences. Gay men with gay brothers provide the opportunity to examine several hypotheses. Sixty-six men, representing 37 gay male sibling pairs, completed questionnaires assessing behavior on various measures including childhood and adult gender nonconformity, timing of awareness of homosexual feelings, self-acceptance, and the quality of family relationships. Consistent with prior findings using twins, gay brothers were similar in their degree of childhood gender non-conformity, suggesting that this variable may distinguish etiologically (e.g., genetically) heterogeneous subtypes. The large majority of gay men with brothers knew about their own homosexual feelings before they learned about their brothers' homosexual feelings, suggesting that discovery of brothers' homosexuality is not an important cause of male homosexuality.

  9. 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.

  10. 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.

  11. 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 o

  12. 24 CFR 982.515 - Family share: Family responsibility.

    Science.gov (United States)

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner is...

  13. Opening Doors: Understanding School and Family Influences on Family Involvement

    Science.gov (United States)

    Carlisle, Erin; Stanley, Lindsey; Kemple, Kristen Mary

    2005-01-01

    Family involvement in schooling can benefit young children, teachers, and families. Family involvement in schools can be influenced by both school-related and family-related factors. School-related factors include teachers' attitudes toward families, and school and teacher expectations. Family-related factors include ethnicity, prior school…

  14. 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 o

  15. 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

  16. 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.

  17. 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.

  18. Family dynamics and family psychotherapy of psychosomatic.

    Science.gov (United States)

    Wirsching, M; Stierlin, H

    1979-01-01

    Family therapy of psychosomatic disorders is oftern difficult and comparable to the therapy of psychotic patients. Nonetheless, the results published today by authors such as Minuchin and Selvini and our own experiences are promising indeed. We have found that what seemed to be a deep-rooted psychic structure changed rapidly and enduringly if the relationship field changed. Amelioration of symptoms is in many cases easily attained if they are understood in their function within a relational system. Also, we regard the system or family approach as a chance for medical practice. The general practioner who usually deals with family systems has, in our view, an ideal position to bring about change if he uses his authority and trust properly. He has to obtain a positive, not pathology-oriented view and should use family and social resources in spite of engaging in an often fruitless and endless contact with the designated patient, which only serves to maintain and even to increase the homeostatic lock of the family system.

  19. Family needs of critically ill patients in the emergency department.

    Science.gov (United States)

    Hsiao, Ping-Ru; Redley, Bernice; Hsiao, Ya-Chu; Lin, Chun-Chih; Han, Chin-Yen; Lin, Hung-Ru

    2017-01-01

    Family members' experience a range of physiological, psychological and emotional impacts when accompanying a critically ill relative in the emergency department. Family needs are influenced by their culture and the context of care, and accurate clinician understanding of these needs is essential for patient- and family-centered care delivery. The aim of this study was to describe the needs of Taiwanese family members accompanying critically ill patients in the emergency department while waiting for an inpatient bed and compare these to the perceptions of emergency nurses. A prospective cross-sectional survey was conducted in a large medical center in Taiwan. Data were collected from 150 family members and 150 emergency nurses who completed a Chinese version of the Critical Care Family Needs Inventory. Family members ranked needs related to 'communication with family members,' as most important, followed by 'family member participation in emergency department care', 'family member support' and 'organizational comfort'; rankings were similar to those of emergency nurses. Compared to nurses, family members reported higher scores for the importance of needs related to 'communication with family members' and 'family members' participation in emergency department care'. Family members place greater importance than emergency nurses on the need for effective communication. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Culture, survival, and family size.

    Science.gov (United States)

    1984-03-02

    Judith Jacobson, senior researcher at the Worldwatch Institute which analyzes economic and social issues, states that people have large families for about as many reasons as there are different cultures. The reasons include carrying on the family name, show of "macho" by the father, or force of habit, i.e., doing what their poverty stricken families and neighbors have always done. These traditions did not simply develop by chance. Throughout history, a high death rate coincided with the high birthrate. If a couple wanted 2 or 3 children, they had several more, assuming -- often correctly -- that at least a few of their children would die of any number of diseases. In addition there were and continue to be economic reasons for big families. Working children add to thefamily income, and they are a kind of pension plan, looked to for support during old age. Thus, the desire for big families is deeply rooted in many cultures. At present, in less developed nations, medicines and pesticides have eradicated many diseases and increased life expectancy. Infant mortality has dropped markedly in the last 25 years, but there has not been a matching drop in birthrates, especially in rural areas. The result is that poor nations' populations are growing about twice as fast as needed to replace those dying. The result in some rural areas has been hunger and even starvation. Rural people and their problems are often easier to ignore than the unrest of city dwellers. Many governments provide jobs and keep food prices low in cities where political opposition is more likely to start. This urban rural gap tends to widen as population grows. Low wages for the poorest rural residents drop when there are more available workers for the same amount of land. This creates another dimension of the population problem -- migration to the cities and to foreign countries.

  1. Familial pituitary tumor syndromes.

    Science.gov (United States)

    Elston, Marianne S; McDonald, Kerrie L; Clifton-Bligh, Roderick J; Robinson, Bruce G

    2009-08-01

    The vast majority of pituitary tumors are benign and occur sporadically; however, they can still result in significant morbidity and even premature mortality through mass effects and hormone dysfunction. The etiology of sporadic tumors is still poorly understood; by contrast, advances have been made in our understanding of familial pituitary adenoma syndromes in the past decade. Currently, four genes are known to be associated with familial pituitary tumor syndromes: MEN1, CDKN1B, PRKAR1A and AIP. The first three genes are associated with a variety of extrapituitary pathologies, for example, primary hyperparathyroidism with multiple endocrine neoplasia type 1, which might aid identification of these syndromes. By contrast, AIP mutations seem to occur in the setting of isolated familial pituitary adenomas, particularly of the growth-hormone-secreting subtype. Awareness and identification of familial pituitary tumor syndromes is important because of potential associated pathologies and important implications for family members. Here, we review the current knowledge of familial pituitary tumor syndromes.

  2. 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.

  3. Family in contemporary society

    OpenAIRE

    Rabije Murati

    2016-01-01

    The family is part of social change and, as such changes and transform into steps with modern trends of society. Family function in a given society is structured according to the overall changes that occur in all areas of social life, not neglecting family life. The contemporary conditions impose requirements that must be met to move forward with the times that follow. In particular, should highlight the social changes that are related to the growth and advancement of the educational and prof...

  4. Assessing family resources: validation of the Swedish version of the Family Hardiness Index.

    Science.gov (United States)

    Persson, Carina; Benzein, Eva; Årestedt, Kristofer

    2016-12-01

    All families face normative transitions. Some are perceived as stressful and calls for family resources to maintain or restore family well-being. In times of illness, families also need to develop strengths and capabilities to enhance family well-being. The way these are developed is related to family hardiness. Family hardiness is thus seen as a family resource, and the Family Hardiness Index (FHI) was developed to measure family stress resistance and adaptation resources. The index was not available in Swedish and no extensive international psychometric evaluation was found. Therefore, the aim was to translate and validate the Swedish version of the FHI. The study was approved by a Regional Ethical Review Board. Data from 174 Swedish participants, family members to persons with cognitive dysfunctions (n = 95) and nursing students (n = 79) were included. Family members were enrolled in outpatient clinics in primary care and rehabilitation, and nursing students at a nursing school. Psychometric properties were evaluated through calculations of missing data, distributions of item and scale scores, item correlations, Cronbach's alpha, confirmatory factor analyses and correlations with theoretically related constructs. Sample scores had acceptable data quality, internal consistency for the FHI total scale was satisfactory (α = 0.86), and construct validity was supported. Our findings cast some doubt on the intended interpretation since confirmatory factor analyses showed that a modified four-subscale version, excluding one subscale, showed best fit. The Control subscale lacked important psychometric properties in terms of homogeneity, internal consistency and construct validity. The sample size was probably sufficiently large for the factor analyses, but the subgroup analyses should be treated with caution. The conclusion is that the Swedish version of the FHI is a promising scale for assessing family hardiness, but more solid evidence for the factor structure in

  5. On the oldest asteroid families in the main belt

    CERN Document Server

    Carruba, V; Aljbaae, S; Domingos, R C; Huaman, M

    2016-01-01

    Asteroid families are groups of minor bodies produced by high-velocity collisions. After the initial dispersions of the parent bodies fragments, their orbits evolve because of several gravitational and non-gravitational effects,such as diffusion in mean-motion resonances, Yarkovsky and YORP effects, close encounters of collisions, etc. The subsequent dynamical evolution of asteroid family members may cause some of the original fragments to travel beyond the conventional limits of the asteroid family. Eventually, the whole family will dynamically disperse and no longer be recognizable. A natural question that may arise concerns the timescales for dispersion of large families. In particular, what is the oldest still recognizable family in the main belt? Are there any families that may date from the late stages of the Late Heavy Bombardment and that could provide clues on our understanding of the primitive Solar System? In this work, we investigate the dynamical stability of seven of the allegedly oldest familie...

  6. A Review of Childrearing in African American Single Mother Families: The Relevance of a Coparenting Framework

    Science.gov (United States)

    Jones, Deborah J.; Zalot, Alecia A.; Foster, Sarah E.; Sterrett, Emma; Chester, Charlene

    2007-01-01

    Clinical research on African American single mother families has focused largely on mother-child dyads, with relatively less empirical attention to the roles of other adults or family members who often assist with childrearing. This narrow definition of "family" fails to take into account the extended family networks which often provide support…

  7. The Hoffmeister asteroid family

    Science.gov (United States)

    Carruba, V.; Novaković, B.; Aljbaae, S.

    2017-03-01

    The Hoffmeister family is a C-type group located in the central main belt. Dynamically, it is important because of its interaction with the ν1C nodal secular resonance with Ceres, which significantly increases the dispersion in inclination of family members at a lower semimajor axis. As an effect, the distribution of inclination values of the Hoffmeister family at a semimajor axis lower than its centre is significantly leptokurtic, and this can be used to set constraints on the terminal ejection velocity field of the family at the time it was produced. By performing an analysis of the time behaviour of the kurtosis of the vW component of the ejection velocity field [γ2(vW)], as obtained from Gauss' equations, for different fictitious Hoffmeister families with different values of the ejection velocity field, we were able to exclude that the Hoffmeister family should be older than 335 Myr. Constraints from the currently observed inclination distribution of the Hoffmeister family suggest that its terminal ejection velocity parameter VEJ should be lower than 25 m s-1. Results of a Yarko-YORP Monte Carlo method to family dating, combined with other constraints from inclinations and γ2(vW), indicate that the Hoffmeister family should be 220^{+60}_{-40} Myr old, with an ejection parameter VEJ = 20 ± 5 m s-1.

  8. Family in contemporary society

    Directory of Open Access Journals (Sweden)

    Rabije Murati

    2016-01-01

    Full Text Available The family is part of social change and, as such changes and transform into steps with modern trends of society. Family function in a given society is structured according to the overall changes that occur in all areas of social life, not neglecting family life. The contemporary conditions impose requirements that must be met to move forward with the times that follow. In particular, should highlight the social changes that are related to the growth and advancement of the educational and professional standards, which will increase the overall impact on the family and its function. If you're looking for full responsibility of parents in the upbringing of children then it is necessary to see the conditions in which the family lives. For normal education and the rights of children with special meaning the number of members in the (quantity family. The tendency to a higher standard of economic life, a small number of children in the family and it is more than obvious that fewer family members or less have greater opportunity for parents to pay more attention to their children. One of the main roles of family, no matter where they are located in the city, village, developed or developing countries, by all means participate, intermediates and transfers the moral, social and other values in modern life.

  9. Saturating Sperner families

    CERN Document Server

    Gerbner, Dániel; Lemons, Nathan; Pálvölgyi, Dömötör; Palmer, Cory; Patkós, Balázs

    2011-01-01

    A family $\\cF \\subseteq 2^{[n]}$ saturates the monotone decreasing property $\\cP$ if $\\cF$ satisfies $\\cP$ and one cannot add any set to $\\cF$ such that property $\\cP$ is still satisfied by the resulting family. We address the problem of finding the minimum size of a family saturating the $k$-Sperner property and the minimum size of a family that saturates the Sperner property and that consists only of $l$-sets and $(l+1)$-sets.

  10. 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....

  11. Newfoundland and Labrador hydro dam safety management system : case study Long Pond Reservoir dam safety review[Includes the CSCE forum on professional practice and career development : 1. international engineering mechanics and materials specialty conference : 1. international/3. coastal, estuarine and offshore engineering specialty conference : 2. international/8. construction specialty conference

    Energy Technology Data Exchange (ETDEWEB)

    Poole, G. [Newfoundland and Labrador Hydro, St. John' s, NL (Canada); Woolgar, R. [Hatch Ltd., St. John' s, NL (Canada)

    2009-07-01

    Newfoundland and Labrador Hydro (Hydro) has an active Dam Safety Management (DSM) as part of its overall commitment to safety. The DSM is managed through Hydro's Engineering Department to ensure that all dams and hydraulic structures are operated and maintained in a safe manner to minimize risk to the public. Key elements of the program include employing a Dyke Board of Consultants to inspect structures annually, maintaining a dam inventory record, and surveillance, maintenance, and monitoring plans. The DSM program has recently been updated to include Dam Safety Reviews (DSR) in accordance with the Canadian Dam Association (CDA) Dam Safety Guidelines. A DSR is a systematic review and evaluation of all aspects of design, construction, operation, maintenance, processes, and other systems affecting a dam's safety. A DSR evaluates all components of the dams and hydraulic structures such dams, spillways, foundations, abutments, reservoir, and tailraces. In 2008, Hydro employed Hatch to conduct a DSR for Long Pond Reservoir that will form the basis of additional reviews to be completed in the future on other systems. The DSR showed that Hydro has an excellent DSM and the dams on Long Pond Reservoir are in compliance with the 2007 CDA Guidelines. 1 fig.

  12. A glacial systems model configured for large ensemble analysis of Antarctic deglaciation

    Directory of Open Access Journals (Sweden)

    R. Briggs

    2013-04-01

    Full Text Available This article describes the Memorial University of Newfoundland/Penn State University (MUN/PSU glacial systems model (GSM that has been developed specifically for large-ensemble data-constrained analysis of past Antarctic Ice Sheet evolution. Our approach emphasizes the introduction of a large set of model parameters to explicitly account for the uncertainties inherent in the modelling of such a complex system. At the core of the GSM is a 3-D thermo-mechanically coupled ice sheet model that solves both the shallow ice and shallow shelf approximations. This enables the different stress regimes of ice sheet, ice shelves, and ice streams to be represented. The grounding line is modelled through an analytical sub-grid flux parametrization. To this dynamical core the following have been added: a heavily parametrized basal drag component; a visco-elastic isostatic adjustment solver; a diverse set of climate forcings (to remove any reliance on any single method; tidewater and ice shelf calving functionality; and a new physically-motivated empirically-derived sub-shelf melt (SSM component. To assess the accuracy of the latter, we compare predicted SSM values against a compilation of published observations. Within parametric and observational uncertainties, computed SSM for the present day ice sheet is in accord with observations for all but the Filchner ice shelf. The GSM has 31 ensemble parameters that are varied to account (in part for the uncertainty in the ice-physics, the climate forcing, and the ice-ocean interaction. We document the parameters and parametric sensitivity of the model to motivate the choice of ensemble parameters in a quest to approximately bound reality (within the limits of 31 parameters.

  13. Indigenous families' use of a tertiary children's hospital in Australia.

    Science.gov (United States)

    Munns, Ailsa; Shields, Linda

    2013-09-01

    There has been little research into Australian Indigenous families' use of a tertiary paediatric hospital in Western Australia. Scrutiny of existing scientific literature and the reports of government and non-governmental organisations from 1995 onwards did not identify clear referral pathways, health-seeking behaviours or preferences of Indigenous families for a culturally safe hospital model. Family-centred care requires an understanding of how Indigenous children and families arrive at a health service, and the cultural and practical implications of large distances and of leaving other family members behind.

  14. Communication in family businesses : Relationships between family and non-family managers

    OpenAIRE

    Grytsaieva, Tetiana; Strandberg, Johan

    2016-01-01

    Problem: Family firms often comprise of a complex web of relationships between family and non-family managers that are active within the business. Family enterprises are also known for their closed communication and decision-making practices. It often occurs that families do not include non-family managers into important business-related discussions and do not consult their decisions with managers from outside of the family. At the same time, research in the area of family business defines th...

  15. Una mutación en el gen PARK2 causa enfermedad de Parkinson juvenil en una extensa familia colombiana Mutation c.255delA in the PARK2 gene as cause of juvenile Parkinson´s disease in a large Colombian family

    Directory of Open Access Journals (Sweden)

    Nicolas Pineda Trujillo

    2009-05-01

    -pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin;}

    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.

    family: ";Times New Roman";,";serif";;" lang="EN-US">Molecular evaluation included typing of microsatellites (SSTRs and direct sequencing of the exons of the gene.

    family: ";Times New Roman";,";serif";;" lang="EN-US">Our findings showed the presence, in a homozygous manner, of the mutation c.255delA, at exon 2 of PARK2. In addition, it was possible to identify a haplotype carried by both parents, and present in a homozygous manner in the affected children. A high rate of recombinants was observed in the analysed

  16. The evolution of mammalian gene families.

    Directory of Open Access Journals (Sweden)

    Jeffery P Demuth

    Full Text Available Gene families are groups of homologous genes that are likely to have highly similar functions. Differences in family size due to lineage-specific gene duplication and gene loss may provide clues to the evolutionary forces that have shaped mammalian genomes. Here we analyze the gene families contained within the whole genomes of human, chimpanzee, mouse, rat, and dog. In total we find that more than half of the 9,990 families present in the mammalian common ancestor have either expanded or contracted along at least one lineage. Additionally, we find that a large number of families are completely lost from one or more mammalian genomes, and a similar number of gene families have arisen subsequent to the mammalian common ancestor. Along the lineage leading to modern humans we infer the gain of 689 genes and the loss of 86 genes since the split from chimpanzees, including changes likely driven by adaptive natural selection. Our results imply that humans and chimpanzees differ by at least 6% (1,418 of 22,000 genes in their complement of genes, which stands in stark contrast to the oft-cited 1.5% difference between orthologous nucleotide sequences. This genomic "revolving door" of gene gain and loss represents a large number of genetic differences separating humans from our closest relatives.

  17. The Rafita asteroid family

    Science.gov (United States)

    Aljbaae, S.; Carruba, V.; Masiero, J. R.; Domingos, R. C.; Huaman, M.

    2017-01-01

    The Rafita asteroid family is an S-type group located in the middle main belt, on the right side of the 3J:-1A mean-motion resonance. The proximity of this resonance to the family left side in semi-major axis caused many former family members to be lost. As a consequence, the family shape in the (a, 1/D) domain is quite asymmetrical, with a preponderance of objects on the right side of the distribution. The Rafita family is also characterized by a leptokurtic distribution in inclination, which allows the use of methods of family age estimation recently introduced for other leptokurtic families such as Astrid, Hansa, Gallia, and Barcelona. In this work we propose a new method based on the behavior of an asymmetry coefficient function of the distribution in the (a, 1/D) plane to date incomplete asteroid families such as Rafita. By monitoring the time behavior of this coefficient for asteroids simulating the initial conditions at the time of the family formation, we were able to estimate that the Rafita family should have an age of 490 ± 200 Myr, in good agreement with results from independent methods such as Monte Carlo simulations of Yarkovsky and Yorp dynamical induced evolution and the time behaviour of the kurtosis of the sin (i) distribution. Asteroids from the Rafita family can reach orbits similar to 8% of the currently known near Earth objects. ≃1% of the simulated objects are present in NEO-space during the final 10 Myr of the simulation, and thus would be comparable to objects in the present-day NEO population.

  18. Influence of family dynamics on burden among family caregivers in aging Japan.

    Science.gov (United States)

    Kusaba, Tesshu; Sato, Kotaro; Fukuma, Shingo; Yamada, Yukari; Matsui, Yoshinori; Matsuda, Satoshi; Ando, Takashi; Sakushima, Ken; Fukuhara, Shunichi

    2016-10-01

    Long-term care for the elderly is largely shouldered by their family, representing a serious burden in a hyper-aging society. However, although family dynamics are known to play an important role in such care, the influence of caring for the elderly on burden among caregiving family members is poorly understood. To examine the influence of family dynamics on burden experienced by family caregivers. We conducted a cross-sectional study at six primary care clinics, involving 199 caregivers of adult care receivers who need long-term care. Participants were divided into three groups based on tertile of Index of Family Dynamics for Long-term Care (IF-Long score), where higher scores imply poorer relationships between care receivers and caregiving family: best, family dynamics strongly influences burden experienced by caregiving family members, regardless of the care receiver's degree of cognitive impairment. These results underscore the importance of evaluating relationships between care receivers and their caregivers when discussing a care regimen for care receivers. © The Author 2016. Published by Oxford University Press.

  19. Closure Issues with Families.

    Science.gov (United States)

    Craig, Steven E.; Bischof, Gary H.

    Closure of the counseling relationship constitutes both an ending and a beginning. Although closure signifies the ending of the present counseling relationship, many family counselors conceptualize closure as the start of a working relationship between counselor and family that may be summoned in future times of crisis or during a difficult life…

  20. Selecting Family Interventions.

    Science.gov (United States)

    Watts, Richard E.

    Just as counseling approaches designed for individuals have their theory-specific techniques, family counseling approaches also have theory-specific interventions and strategies. Whatever presenting problem the family brings to counseling, one or more of four essential components (communication, problem solving, roles and boundaries) is typically…

  1. Assessment of Troubled Families.

    Science.gov (United States)

    Combs-Orme, Terri; Thomas, Katherine H.

    1997-01-01

    Tests the utility of four standardized instruments used in assessing 105 families that sought services in a juvenile corrections setting for their teenage children. Results demonstrate that parents and adolescents can complete standardized assessment instruments and that the information provided can help in understanding distressed families. (RJM)

  2. Family Reunion Health Guide

    Science.gov (United States)

    ... be a sign of kidney disease. Encourage your family to keep their blood pressure at or below the number set by their ... Share NKDEP brochures about diabetes and high blood pressure. Encourage family members to take the information with them when ...

  3. Privacy in the family

    NARCIS (Netherlands)

    Newell, Bryce; Metoyer, Cheryl A.; Moore, Adam D.

    2015-01-01

    Popular access to increasingly sophisticated forms of electronic surveillance technologies has altered the dynamics of family relationships. Monitoring, mediated and facilitated by practices of both covert and overt electronic surveillance, has changed the nature of privacy within the family. In thi

  4. Narrative Family Therapy.

    Science.gov (United States)

    Walsh, William M.; Keenan, Robert

    1997-01-01

    States that narrative family therapy is informed by social constructionism and postmodern worldviews, and is a relatively significant departure from mainstream psychotherapy. Discusses the use of narrative family therapy. Uses the story of Adam and Eve in the Garden of Eden as an example. (MKA)

  5. Marriage or Family Therapy.

    Science.gov (United States)

    Haley, Jay

    1984-01-01

    Reviews the differences between family therapy and marriage counseling in terms of professional organization, theory, and practice. Suggests that training in marriage therapy does not appear adequate for family therapy. The goal of the therapy field should be more consensus in theory and a single profession of therapists. (JAC)

  6. Family Report 2011

    NARCIS (Netherlands)

    Freek Bucx

    2011-01-01

    Original title: Gezinsrapport 2011. Between 2007 and 2010 the Netherlands had its first ever Minister for Youth and Family. The position of the family in modern society is a subject of considerable debate, not just at political and policy level, but also in society itself. Voices are frequently hea

  7. Familie og arv

    DEFF Research Database (Denmark)

    Nielsen, Linda

    1995-01-01

    Familie og arv, familie, arv, børn, ægteskab, ægtefælle, skilsmisse, formuefællesskab, forældremyndighed, fælleseje, særråden, særeje, død, uskiftet bo, underholdspligt, samliv, tvangsarv, deling...

  8. Golden Matrix Families

    Science.gov (United States)

    Fontaine, Anne; Hurley, Susan

    2011-01-01

    This student research project explores the properties of a family of matrices of zeros and ones that arises from the study of the diagonal lengths in a regular polygon. There is one family for each n greater than 2. A series of exercises guides the student to discover the eigenvalues and eigenvectors of the matrices, which leads in turn to…

  9. Internationalization of Family Businesses

    DEFF Research Database (Denmark)

    Boyd, Britta; Hollensen, Svend; Goto, Toshio

    2010-01-01

    -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...

  10. America's Family Time Famine.

    Science.gov (United States)

    Mattox, Jr., William R.

    1990-01-01

    Parents spend increasingly less time with their children because of the pressures of dual careers and single parenthood. Economic pressures and social values have affected sharing of family time. Studies show both parents and children consider spending time together the most important element in improving family life. (BC)

  11. Marriage or Family Therapy.

    Science.gov (United States)

    Haley, Jay

    1984-01-01

    Reviews the differences between family therapy and marriage counseling in terms of professional organization, theory, and practice. Suggests that training in marriage therapy does not appear adequate for family therapy. The goal of the therapy field should be more consensus in theory and a single profession of therapists. (JAC)

  12. The Family Victivallaceae

    NARCIS (Netherlands)

    Plugge, C.M.; Zoetendal, E.G.

    2014-01-01

    The family Victivallaceae is a member of the order Victivallales and holds only two cultured representatives: Victivallis vadensis strain CelloT and the uncharacterized strain NML 080035. They are Gram-negative, nonmotile, and anaerobic. Within the family as well as the order, cloned 16S rRNA gene s

  13. The family Cyclobacteriaceae

    Digital Repository Service at National Institute of Oceanography (India)

    AnilKumar, P.; Srinivas, T.N.R.

    , Rhodonellum, and Shivajiella Phylogenetic analysis based on 16S rRNA gene sequences clearly clustered all the genera into the family Cyclobacteriaceae Members of the family are known to have a wide range of morphological properties like cell shape, size...

  14. Why the Family?

    NARCIS (Netherlands)

    Ferracioli, L.

    2015-01-01

    Among the most pressing philosophical questions occupying those interested in the ethics of the family is why should parents, as opposed to charity workers or state officials, raise children? In their recent Family Values, Brighouse and Swift have further articulated and strengthen their own

  15. 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…

  16. Asteroid families, dynamics and astrometry

    Science.gov (United States)

    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.

  17. Geometrical families of mechanically stable granular packings

    Science.gov (United States)

    Gao, Guo-Jie; Blawzdziewicz, Jerzy; O'Hern, Corey S.

    2009-12-01

    We enumerate and classify nearly all of the possible mechanically stable (MS) packings of bidipserse mixtures of frictionless disks in small sheared systems. We find that MS packings form continuous geometrical families, where each family is defined by its particular network of particle contacts. We also monitor the dynamics of MS packings along geometrical families by applying quasistatic simple shear strain at zero pressure. For small numbers of particles (N16 , we observe an increase in the period and random splittings of the trajectories caused by bifurcations in configuration space. We argue that the ratio of the splitting and contraction rates in large systems will determine the distribution of MS-packing geometrical families visited in steady state. This work is part of our long-term research program to develop a master-equation formalism to describe macroscopic slowly driven granular systems in terms of collections of small subsystems.

  18. Familial malignant melanoma

    Energy Technology Data Exchange (ETDEWEB)

    Kopf, A.W.; Hellman, L.J.; Rogers, G.S.; Gross, D.F.; Rigel, D.S.; Friedman, R.J.; Levenstein, M.; Brown, J.; Golomb, F.M.; Roses, D.F.; Gumport, S.L.

    1986-10-10

    Characteristics associated with familial compared with nonfamilial malignant melanoma were assessed. These data were obtained from consecutive prospectively completed questionnaires on 1169 cases of cutaneous malignant melanoma. Of these, 69 patients indicated a positive family history for this cancer. Among the various clinical and histological variables compared, those that significantly correlated with the familial occurrence of malignant melanoma include younger age at first diagnosis, smaller diameter of the lesion, lower Clark level, decreased frequency of nonmelanoma skin cancer, and reduced prevalence of noncutaneous cancer. Increased awareness of malignant melanoma among family members could account for some of these observations. Identification of the familial variety of malignant melanoma has practical implications concerning early detection and prompt intervention.

  19. 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......, with the advent of next-generation sequencing, a small number of new high-penetrance genes have recently been uncovered. This approach has identified the lineage-specific oncogene MITF as a susceptibility gene both in melanoma families and in the general population, as well as the discovery of telomere...... maintenance as a key pathway underlying melanoma predisposition. Given these rapid recent advances, this approach seems likely to continue to pay dividends. Here, we review the currently known familial melanoma genes, providing evidence that most additionally confer risk to other cancers, indicating...

  20. 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...