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Sample records for large swedish family

  1. Swedish Family Policy.

    ERIC Educational Resources Information Center

    Herrstrom, Staffan

    1986-01-01

    Family policy remains one of the leading issues of Swedish domestic politics. All parties are agreed that families with children must be given a better deal in the wake of the economic crisis. But how is this to be done and how quickly can it be achieved? Is the expansion of day nursery facilities to be speeded up, or are parents to be given a…

  2. The Swedish Family: Problems, Programs and Prospects.

    ERIC Educational Resources Information Center

    Lindblom, Paul

    1986-01-01

    To clarify issues in the controversy in Sweden concerning the means and ends of family policy, this article analyzes the economic plight of Swedish families with children, elucidates the views of parents and politicians, discusses the changing role and status of women, and considers prospects for the future. Also discussed are work equality and…

  3. Beginning Swedish Individualized Program: Familjen (The Family).

    ERIC Educational Resources Information Center

    Thorstensson, Roland; And Others

    This volume, one of a series in an introductory course in Swedish languge and culture, is designed for use in secondary school programs stressing the development of audiolingual and basic skill concepts through individualized means of study. The course is divided into two stages: the introductory units establish the sound system and provide the…

  4. Homework as Serious Family Business: Power and Subjectivity in Negotiations about School Assignments in Swedish Families

    ERIC Educational Resources Information Center

    Forsberg, Lucas

    2007-01-01

    Most previous research on parental involvement in children's homework has focused on the pedagogical advantages or disadvantages of school assignments while neglecting the practice in its social context, family life. By studying parent-child homework negotiations in Swedish families, this paper examines how family members position themselves and…

  5. Cultural Adaptation of the Strengthening Families Programme to a Swedish Setting

    ERIC Educational Resources Information Center

    Skarstrand, Eva; Larsson, Jorgen; Andreasson, Sven

    2008-01-01

    Purpose: The purpose of this paper is to describe the adaptation and programme development of the Strengthening Families Programme to a Swedish setting. Design/methodology/approach: A descriptive approach was employed with a focus on the cultural adaptation and programme development. This included meetings with two reference groups, a telephone…

  6. Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample.

    PubMed

    Szatkiewicz, J P; Neale, B M; O'Dushlaine, C; Fromer, M; Goldstein, J I; Moran, J L; Chambert, K; Kähler, A; Magnusson, P K E; Hultman, C M; Sklar, P; Purcell, S; McCarroll, S A; Sullivan, P F

    2013-11-01

    Although copy number variants (CNVs) are important in genomic medicine, CNVs have not been systematically assessed for many complex traits. Several large rare CNVs increase risk for schizophrenia (SCZ) and autism and often demonstrate pleiotropic effects; however, their frequencies in the general population and other complex traits are unknown. Genotyping large numbers of samples is essential for progress. Large cohorts from many different diseases are being genotyped using exome-focused arrays designed to detect uncommon or rare protein-altering sequence variation. Although these arrays were not designed for CNV detection, the hybridization intensity data generated in each experiment could, in principle, be used for gene-focused CNV analysis. Our goal was to evaluate the extent to which CNVs can be detected using data from one particular exome array (the Illumina Human Exome Bead Chip). We genotyped 9100 Swedish subjects (3962 cases with SCZ and 5138 controls) using both standard genome-wide association study (GWAS) and exome arrays. In comparison with CNVs detected using GWAS arrays, we observed high sensitivity and specificity for detecting genic CNVs 400 kb including known pathogenic CNVs along with replicating the literature finding that cases with SCZ had greater enrichment for genic CNVs. Our data confirm the association of SCZ with 16p11.2 duplications and 22q11.2 deletions, and suggest a novel association with deletions at 11q12.2. Our results suggest the utility of exome-focused arrays in surveying large genic CNVs in very large samples; and thereby open the door for new opportunities such as conducting well-powered CNV assessment and comparisons between different diseases. The use of a single platform also minimizes potential confounding factors that could impact accurate detection. PMID:23938935

  7. Hereditary ring sideroblastic anaemia and Christmas disease in a Swedish family.

    PubMed

    Hast, R; Miale, T; Westin, J; Birgegård, G; Möller, E; Reizenstein, P; Teger-Nilsson, A C; Wetterberg, L

    1983-05-01

    The association of hereditary ring sideroblastic anaemia with Christmas disease in a Swedish family is described. We have studied the transmission of the sideroblastic trait, in relation to HLA groups and Christmas disease, and also evaluated the erythrocyte morphology, uroporphyrinogen-I-synthetase activity and S-ferritin for the detection of latent cases of ring sideroblastic anaemia. The proband had ring sideroblastic anaemia, Christmas disease and haemochromatosis. 3 cases of ring sideroblastic anaemia were found among the 12 family members studied. Using the factor IX deficiency as a marker of the X chromosome, it appeared that autosomal transmission of the sideroblastic trait was most likely. The sideroblastic trait did not seem to be linked to HLA-A3-alloantigen. Erythrocyte morphology was normal in all non-anaemic subjects. S-ferritin was found to be increased in all 3 cases of sideroblastic anaemia as well as in 1 non-anaemic relative. Erythrocyte uroporphyrinogen-I-synthetase was elevated in 10 of the 12 family members; those with sideroblastic anaemia had the highest values indicating that uroporphyrinogen-I-synthetase is of importance in the disturbed haem-synthesis of ring sideroblastic anaemia. This interpretation is supported by the positive correlation between S-ferritin values and the uroporphyrinogen-I-synthetase activity.

  8. Genomewide Scan for Affective Disorder Susceptibility Loci in Families of a Northern Swedish Isolated Population

    PubMed Central

    Venken, Tine; Claes, Stephan; Sluijs, Samuël; Paterson, Andrew D.; van Duijn, Cornelia; Adolfsson, Rolf; Del-Favero, Jurgen; Van Broeckhoven, Christine

    2005-01-01

    We analyzed nine multigenerational families with ascertained affective spectrum disorders in northern Sweden's geographically isolated population of Västerbotten. This northern Swedish population, which originated from a limited number of early settlers ∼8,000 years ago, is genetically more homogeneous than outbred populations. In a genomewide linkage analysis, we identified three chromosomal loci with multipoint LOD scores (MPLOD) ⩾2 at 9q31.1-q34.1 (MPLOD 3.24), 6q22.2-q24.2 (MPLOD 2.48), and 2q33-q36 (MPLOD 2.26) under a recessive affected-only model. Follow-up genotyping with application of a 2-cM density simple-tandem-repeat (STR) map confirmed linkage at 9q31.1-q34.1 (MPLOD 3.22), 6q23-q24 (MPLOD 3.25), and 2q33-q36 (MPLOD 2.2). In an initial analysis aimed at identification of the underlying susceptibility genes, we focused our attention on the 9q locus. We fine mapped this region at a 200-kb STR density, with the result of an MPLOD of 3.70. Genealogical studies showed that three families linked to chromosome 9q descended from common founder couples ∼10 generations ago. In this ∼10-generation pedigree, a common ancestral haplotype was inherited by the patients, which reduced the 9q candidate region to 1.6 Mb. Further, the shared haplotype was observed in 4.2% of patients with bipolar disorder with alternating episodes of depression and mania, but it was not observed in control individuals in a patient-control sample from the Västerbotten isolate. These results suggest a susceptibility locus on 9q31-q33 for affective disorder in this common ancestral region. PMID:15614721

  9. Allelic association but only weak evidence for linkage to the apolipoprotein E locus in late-onset Swedish Alzheimer families

    SciTech Connect

    Liu, L.; Forsell, C.; Lilius, L.

    1996-05-31

    An association between the {epsilon}4 allele of the apolipoprotein E gene (APOE) and late-onset Alzheimer`s disease (AD) was recently demonstrated. In order to confirm the association and to gauge the ability of standard genetic linkage methods to identify susceptibility genes, we investigated 15 Swedish late-onset AD families. We found an association of familial AD to the APOE {epsilon}4 allele (P = 0.01) but no indication of linkage to the APOE region using 2-point linkage analysis, and only weak evidence using the affected pedigree-member (APM) method. Our results confirm an APOE {epsilon}4 association with late-onset familial AD and indicate that susceptibility genes can easily be missed when using standard lod score and APM genetic linkage analysis. 19 refs., 1 fig., 4 tabs.

  10. Within-family environmental transmission of drug abuse: a Swedish national study.

    PubMed

    Kendler, Kenneth S; Ohlsson, Henrik; Sundquist, Kristina; Sundquist, Jan

    2013-02-01

    CONTEXT Drug abuse (DA) strongly runs in families. Does this result solely from genetic factors or does the family environment contribute? OBJECTIVE To determine the familial environmental contribution to the risk for DA. DESIGN Follow-up in 9 public databases (1961-2009) in siblings and spouses. SETTING Sweden. PARTICIPANTS A total of 137 199 sibling pairs and 7561 spousal pairs containing a proband with DA and matched control probands. MAIN OUTCOME MEASURES Drug abuse recorded in medical, legal, or pharmacy registry records. RESULTS In the best-fit model, which contained significant linear, quadratic, and cubic effects, among full sibling pairs containing a proband with DA, the relative risk for DA in the sibling declined from more than 6.0 for siblings born within 2 years of each other to less than 4.5 when born 10 years apart. Controlling for age differences in full sibling pairs, the hazard rate for DA in a sibling when the affected proband was older vs younger was 1.42 (95% CI, 1.31-1.54). In the best-fit model, which contained significant linear, quadratic, and cubic effects, among spousal pairs containing a proband with DA, the relative risk for DA in the spouse declined from more than 25.0 within 1 year of proband DA registration to 6.0 after 5 years. CONCLUSIONS Controlling for genetic effects by examining only full siblings, sibling resemblance for the risk for DA was significantly greater in pairs closer vs more distant in age. Older siblings more strongly transmitted the risk for DA to their younger siblings than vice versa. After one spouse is registered for DA, the other spouse has a large short-lived increase in DA risk. These results support strong familial environmental influences on DA at various life stages. A complete understanding of the familial transmission of DA will require knowledge of how genetic and familial environmental risk factors act and interact over development.

  11. Post mortem findings in sows and gilts euthanised or found dead in a large Swedish herd

    PubMed Central

    Engblom, Linda; Eliasson-Selling, Lena; Lundeheim, Nils; Belák, Katinka; Andersson, Kjell; Dalin, Anne-Marie

    2008-01-01

    Background The aim of this study was to get information on post mortem diagnoses of sows found dead or euthanised and to understand the diagnoses aetiology (causative background). Moreover, the study was to evaluate the association between the clinical symptoms observed on farm and post mortem findings. Methods A large Swedish herd was studied from January to September 2006. During the 32-week period 3.9% of the removed sows and gilts (old enough to be mated) were found dead, 12.0% were euthanised and the rest were sent to slaughter. Of 32 sows/gilts found dead 17 (53%) were post mortem examined, and of 98 sows euthanised 79 (81%) were examined. The 96 examined carcasses were after 70 sows and 26 gilts. The findings at examination were together with data from the herd monitoring program PigWin Sugg the base for the descriptive statistics presented. Results The average parity number at removal was 2.8 for those found dead and 2.1 for those euthanised. The highest number euthanised and found dead was in parity 0 (gilts). The main proportion of post mortem examinations was made on sows being in the period = 28 d of gestation at death (37.5%), followed by weaning to next service period (24.0%). Arthritis, with an incidence of 36.4% was the most common main finding of pathological-anatomical diagnosis (PAD). Of sows/gilts found dead were circulatory/cardiac failure (23.5%) and trauma related injuries (23.5%) most common PAD. The most commonly observed clinical symptom and reason for euthanasia of the sows/gilts was lameness. Notably, in 43% of the cases with PAD arthritis, the clinical symptoms suggested it being a fracture. Further one or more abscesses (38.5%) and teeth injuries (31.0%) were common findings when also incidental findings were included. Conclusion This post mortem study based on carcasses from sows/gilts found dead or euthanised showed that arthritis was a significant problem in the studied herd and that post mortem examination was important to get

  12. Time-for-Money Exchanges between Older and Younger Generations in Swedish Families

    ERIC Educational Resources Information Center

    Lennartsson, Carin; Silverstein, Merril; Fritzell, Johan

    2010-01-01

    Despite the maturation of welfare states, family solidarity continues to be strong and a growing body of research has shown that substantial financial transfers are passed from older to younger generations within the family. At the same time, family solidarity in terms of instrumental and social support is found to be mutual. This study examines…

  13. Health-related quality of life in Swedish pediatric burn patients and associations with burn and family characteristics.

    PubMed

    Sveen, J; Sjöberg, F; Öster, C

    2014-08-01

    Although many children with burns recover well and have a satisfying quality of life after the burn, some children do not adjust as well. Health-related quality of life (HRQoL) focuses on the impact health status has on quality of life. The aim of this study was to assess HRQoL with the American Burn Association/Shriners Hospitals for Children Burn Outcomes Questionnaire (BOQ) in a nationwide Swedish sample of children with burns 0.3-9.0 years after injury. Participants were parents (n=109) of children aged up to 18 years at the time of investigation who were treated at the Linköping or Uppsala Burn Center between 2000 and 2008. The majority of children did not have limitations in physical function and they did not seem to experience much pain. However, there were indications of psychosocial problems. Parents of preschool children reported most problems with the children's behavior and family disruption, whereas parents of children aged 5-18 years reported most problems with appearance and emotional health. There were mainly burn-related variables associated with suboptimal HRQoL in children aged 5-18 years, while family-related variables did not contribute as much.

  14. Genetic homogeneity in Sjoegren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins

    SciTech Connect

    Rogers, G.R.; Lee, M.; Compton, J.G.

    1995-11-01

    Sjoegren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Three United States families, three Egyptian families, and one Israeli Arab family were investigated for linkage of the SLS gene to a region of chromosome 17. Pairwise and multipoint linkage analysis with nine markers mapped the SLS gene to the same region of the genome as that reported in Swedish SLS pedigrees. Examination of recombinants by haplotype analysis showed that the gene lies in the region containing the markers D17S953, D17S805, D17S689, and D17S842. D17S805 is pericentromeric on 17p. Patients in two consanguineous Egyptian families were homozygous at the nine marker loci tested, and another patient from a third family was homozygous for eight of the nine, suggesting that within each of these families the region of chromosome 17 carrying the SLS gene is identical by descent. Linkage of the SLS gene to chromosome 17p in families of Arabic, mixed European, Native American, and Swedish descent provides evidence for a single SLS locus and should prove useful for diagnosis and carrier detection in worldwide cases. 25 refs., 4 figs., 1 tab.

  15. Strategies for Learning Experiences in Family Child Care: American and Swedish Perspectives

    ERIC Educational Resources Information Center

    Freeman, Ramona; Karlsson, Fil dr Malene

    2012-01-01

    The outlook for teaching and learning in the homes of family child care (also called "day care" and "child minding" [the latter term is used in the United Kingdom]) is both promising and precarious. The authors believe such programs hold potential for high-quality learning, yet they suffer from lack of recognition and support. Originally, family…

  16. Large Constituent Families Help Children Parse Compounds

    ERIC Educational Resources Information Center

    Krott, Andrea; Nicoladis, Elena

    2005-01-01

    The family size of the constituents of compound words, or the number of compounds sharing the constituents, has been shown to affect adults' access to compound words in the mental lexicon. The present study was designed to see if family size would affect children's segmentation of compounds. Twenty-five English-speaking children between 3;7 and…

  17. Health and social outcomes among children in low-income families and families receiving social assistance--a Swedish national cohort study.

    PubMed

    Ringbäck Weitoft, Gunilla; Hjern, Anders; Batljan, Ilija; Vinnerljung, Bo

    2008-01-01

    We examined health and social outcomes among children related to parental disposable income and receipt of social assistance. Swedish national registry data were used in a longitudinal design. We estimated relative risks and odds ratios for health and social outcomes in Poisson and logistic regressions among 1.2 million children between 1993 and 2002, and adjusted for factors that might affect the associations. Children in families receiving long-term social assistance showed considerably less satisfactory future prospects regarding health-related outcomes--all-cause mortality, suicide attempt, alcohol and drug misuse. Also, and to an even greater extent, the children experienced low educational attainment and social assistance in young adulthood compared with the rest of the population, and also in comparison with other low-income families. Low income was also associated with risk increases, but to a lesser extent. After taking into account the greater proportion of social-assistance recipients in low-income groups, attenuated risk increases remained only regarding future prospects of low education and social assistance. Regarding both low income and months receiving social assistance there was a gradient, at least in the age-adjusted analyses; there were greater risk increases among long-term recipients and among those with low incomes, and lower risk increases among short-term recipients and among those with high incomes. The results indicate that growing up in a family on long-term social assistance is a robust risk marker for compromised long-term development. A policy whereby children and parents receiving long-term assistance are offered access to evidence-based prevention programs in the areas of health, education and skills training appears to be important.

  18. Large bearings with incorporated gears, high stiffness, and precision for the Swedish Solar Telescope (SST) on La Palma

    NASA Astrophysics Data System (ADS)

    Hammerschlag, Robert H.; Bettonvil, Felix C. M.; Jägers, Aswin P. L.; Scharmer, Göran B.

    2006-06-01

    The 1-meter Swedish Solar Telescope (SST) obtains images of the solar surface with an unprecedented resolution of 0.1 arcsec. It consists of a relatively slender tower with on top only the vacuum turret for reflecting downward the solar beam and no protective dome. This is a favourable situation to get good local seeing. Just in the case of some wind, seeing is best for daytime observations, therefore the precision bearings and drives of the elevation- and azimuth axis of the turret have to be stiff against wind. This requires line contact between the meshing teeth of the large gear wheel and the pinion. High preload forces to achieve line contact are not allowed because of appearing stick-slip effects. To reduce the risk on stick-slip a special design of the teeth for high stiffness combined with low friction and smooth transition from one tooth to the next was made. Furthermore, extreme precision in the fabrication was pursued such that relatively small contact forces give already line contact. This required a special order of the successive fabrication steps of the combination of bearing and gear teeth. An additional problem was the relatively thin section of the bearings required for a compact turret construction, needed for best local seeing and minimum wind load. Solutions for all these problems will be discussed. For the large gears the exceptional good DIN quality class 4 for the pitch precision and straightness plus direction of the teeth faces was achieved.

  19. Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

    PubMed

    Einarsdottir, Elisabet; Svensson, Idor; Darki, Fahimeh; Peyrard-Janvid, Myriam; Lindvall, Jessica M; Ameur, Adam; Jacobsson, Christer; Klingberg, Torkel; Kere, Juha; Matsson, Hans

    2015-11-01

    Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. This mutation is novel, and predicted to be highly damaging for the function of the protein. 3D modelling suggested a distinct conformational change caused by the mutation. CEP63 is localised to the centrosome in eukaryotic cells and is required for maintaining normal centriole duplication and control of cell cycle progression. We found that a common polymorphism in the CEP63 gene had a significant association with brain white matter volume. The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. We hypothesise that CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated.

  20. Familial benign hypercalcaemia. Study of a large family.

    PubMed

    Menko, F H; Bijvoet, O L; Fronen, J L; Sandler, L M; Adami, S; O'Riordan, J L; Schopman, W; Heynen, G

    1983-01-01

    Twenty-seven hypercalcaemic subjects were identified in three generations of a family. There were no clinical complications of chronic hypercalcaemia, but five had had parathyroid surgery which was unsuccessful in four. Twenty of the twenty-seven subjects were compared with twenty-four normocalcaemic controls from the same family and the findings were also compared with those from forty patients with surgically proven primary hyperparathyroidism. The relation between the serum and urinary calcium levels was studied by means of an oral calcium loading test. The ratio of calcium clearance to creatinine clearance was normal in this family (but elevated in the patients with primary hyperparathyroidism) and the concentration of parathyroid hormone was normal, as was the total urinary excretion of cyclic AMP. Thus, there was no evidence of either suppressed or increased parathyroid activity in this familial condition. Basal urinary calcium excretion was normal under steady-state conditions indicating that the hypercalcaemia could not be attributed to either increased bone resorption or increased calcium absorption from the gut. In accordance with this, the serum levels of 1,25-dihydroxycholecalciferol were normal. The hypercalcaemia in this condition can be accounted for in full by an increase in renal tubular reabsorption of calcium, and thus differs from that of primary hyperparathyroidism in which there is increased production of calcium from gut and/or bone as well as an increase in renal tubular reabsorption of calcium. Although the serum phosphate and renal tubular reabsorption of phosphate were both low in patients with familial benign hypercalcaemia, they were not as low as in patients with the same degree of hypercalcaemia due to primary hyperparathyroidism. The changes in phosphate transport in familial benign hypercalcaemia could be explained as a secondary effect of the increased filtered load of calcium in the kidney. The tendency towards hypermagnesaemia in

  1. Does Population Density and Neighborhood Deprivation Predict Schizophrenia? A Nationwide Swedish Family-Based Study of 2.4 Million Individuals

    PubMed Central

    Sariaslan, Amir; Larsson, Henrik; D’Onofrio, Brian; Långström, Niklas; Fazel, Seena; Lichtenstein, Paul

    2015-01-01

    People living in densely populated and socially disorganized areas have higher rates of psychiatric morbidity, but the potential causal status of such factors is uncertain. We used nationwide Swedish longitudinal registry data to identify all children born 1967–1989 (n = 2361585), including separate datasets for all cousins (n = 1715059) and siblings (n = 1667894). The nature of the associations between population density and neighborhood deprivation and individual risk for a schizophrenia diagnosis was investigated while adjusting for unobserved familial risk factors (through cousin and sibling comparisons) and then compared with similar associations for depression. We generated familial pedigree structures using the Multi-Generation Registry and identified study participants with schizophrenia and depression using the National Patient Registry. Fixed-effects logistic regression models were used to study within-family estimates. Population density, measured as ln(population size/km2), at age 15 predicted subsequent schizophrenia in the population (OR = 1.10; 95% CI: 1.09; 1.11). Unobserved familial risk factors shared by cousins within extended families attenuated the association (1.06; 1.03; 1.10), and the link disappeared entirely within nuclear families (1.02; 0.97; 1.08). Similar results were found for neighborhood deprivation as predictor and for depression as outcome. Sensitivity tests demonstrated that timing and accumulation effects of the exposures (mean scores across birth, ages 1–5, 6–10, and 11–15 years) did not alter the findings. Excess risks of psychiatric morbidity, particularly schizophrenia, in densely populated and socioeconomically deprived Swedish neighborhoods appear, therefore, to result primarily from unobserved familial selection factors. Previous studies may have overemphasized the etiological importance of these environmental factors. PMID:25053652

  2. Does population density and neighborhood deprivation predict schizophrenia? A nationwide Swedish family-based study of 2.4 million individuals.

    PubMed

    Sariaslan, Amir; Larsson, Henrik; D'Onofrio, Brian; Långström, Niklas; Fazel, Seena; Lichtenstein, Paul

    2015-03-01

    People living in densely populated and socially disorganized areas have higher rates of psychiatric morbidity, but the potential causal status of such factors is uncertain. We used nationwide Swedish longitudinal registry data to identify all children born 1967-1989 (n = 2361585), including separate datasets for all cousins (n = 1715059) and siblings (n = 1667894). The nature of the associations between population density and neighborhood deprivation and individual risk for a schizophrenia diagnosis was investigated while adjusting for unobserved familial risk factors (through cousin and sibling comparisons) and then compared with similar associations for depression. We generated familial pedigree structures using the Multi-Generation Registry and identified study participants with schizophrenia and depression using the National Patient Registry. Fixed-effects logistic regression models were used to study within-family estimates. Population density, measured as ln(population size/km(2)), at age 15 predicted subsequent schizophrenia in the population (OR = 1.10; 95% CI: 1.09; 1.11). Unobserved familial risk factors shared by cousins within extended families attenuated the association (1.06; 1.03; 1.10), and the link disappeared entirely within nuclear families (1.02; 0.97; 1.08). Similar results were found for neighborhood deprivation as predictor and for depression as outcome. Sensitivity tests demonstrated that timing and accumulation effects of the exposures (mean scores across birth, ages 1-5, 6-10, and 11-15 years) did not alter the findings. Excess risks of psychiatric morbidity, particularly schizophrenia, in densely populated and socioeconomically deprived Swedish neighborhoods appear, therefore, to result primarily from unobserved familial selection factors. Previous studies may have overemphasized the etiological importance of these environmental factors.

  3. Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

    PubMed

    Frykholm, Carina; Klar, Joakim; Arnesson, Hanna; Rehnman, Anna-Carin; Lodahl, Marianne; Wedén, Ulla; Dahl, Niklas; Tranebjærg, Lisbeth; Rendtorff, Nanna D

    2015-05-25

    Linkage to an interval overlapping the DFNA10 locus on chromosome 6q22-23 was found through genome wide linkage analysis in a seven-generation Swedish family segregating postlingual, autosomal dominant nonsyndromic sensorineural hearing impairment. A novel heterozygous frame-shift mutation (c.579_580insTACC, p.(Asp194Tyrfs*52)) in EYA4 was identified that truncates the so-called variable region of the protein. The mutation is predicted to result in haploinsufficiency of the EYA4 product. No evidence for dilated cardiomyopathy was found in the family, contrasting to a previous family with a deletion resulting in a similar truncation in the variable region. A highly variable age of onset was seen in the mutation carriers. For assessment of the aetiology of this variability, clinical and audiometric data analyses were performed. The affected family members all had similar cross-sectional and longitudinal deterioration of pure tone average (PTA) once the process of hearing deterioration had started, and no gender, parent-of-origin or family branch differences on PTA could be found. Age at onset varied between the family branches. In summary, this is the ninth published genetically verified DFNA10 family. The results imply that unidentified factors, genetic or environmental, other than the EYA4 mutation, are of importance for the age at onset of DFNA10, and that mutation early in the variable region of the EYA4 protein can occur in the absence of dilated cardiomyopathy.

  4. Family environment and the malleability of cognitive ability: a Swedish national home-reared and adopted-away cosibling control study.

    PubMed

    Kendler, Kenneth S; Turkheimer, Eric; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-04-14

    Cognitive ability strongly aggregates in families, and prior twin and adoption studies have suggested that this is the result of both genetic and environmental factors. In this study, we used a powerful design--home-reared and adopted-away cosibling controls--to investigate the role of the rearing environment in cognitive ability. We identified, from a complete national Swedish sample of male-male siblings, 436 full-sibships in which at least one member was reared by one or more biological parents and the other by adoptive parents. IQ was measured at age 18-20 as part of the Swedish military service conscription examination. Parental educational level was rated on a 5-point scale. Controlling for clustering of offspring within biological families, the adopted siblings had an IQ 4.41 (SE = 0.75) points higher than their nonadopted siblings. Each additional unit of rearing parental education was associated with 1.71 (SE = 0.44) units of IQ. We replicated these results in 2,341 male-male half-sibships, in which, controlling for clustering within families, adoption was associated with a gain of IQ of 3.18 (SE = 0.34) points. Each additional unit of rearing parental education was associated with 1.94 (SE = 0.18) IQ units. Using full- and half-sibling sets matched for genetic background, we found replicated evidence that (i) rearing environment affects IQ measured in late adolescence, and (ii) a portion of the IQ of adopted siblings could be explained by the educational level of their adoptive parents.

  5. A large family characterised by nocturnal sudden death

    PubMed Central

    van den Berg, M.P.; Viersma, J.W.; Beaufort-Krol, G.C.M.; Bink-Boelkens, M.Th.E.; Bezzina, C.R.; Veldkamp, M.W.; Brouwer, J.; Haaksma, J.; van Tintelen, J.P.; van Langen, I.M.; Wouda, A.A.; Wilde, A.A.M.

    2002-01-01

    Background We recently identified a novel mutation in large family characterised by premature nocturnal sudden death. In the present paper we provide an overview of the findings in this family. Methods From 1958 onwards, when the first patient presented, we collected clinical data on as many family members as possible. After identification in 1998 of the underlying genetic disorder (SCN5A, 1795insD), genotyping was performed diagnostically. Results Since 1905 unexplained sudden death occurred in 26 family members, 17 of whom died during the night. Besides sudden death, symptomatology was rather limited; only six patients reported syncopal attacks. In one of them, a 13-year-old boy, asystolic episodes up to nine seconds were documented. Until now, the mutation has been found in 114 family members (57 males, 57 females). Carriers of the mutant gene exhibited bradycardia-dependent QT-prolongation, intrinsic sinus node dysfunction, generalised conduction abnormalities, a paucity of ventricular ectopy, and the Brugada sign. Cardiomyopathy or other structural abnormalities were not found in any of the carriers. Electrophysiological studies showed that mutant channels were characterised by markedly reduced INa amplitude, a positive shift of voltage-dependence of activation and a substantial negative shift of voltage-dependence of inactivation of INa. From 1978 onwards, a pacemaker for anti-brady pacing was implanted for prevention of sudden death. In patients in whom a prophylactic pacemaker was implanted no unexplained sudden death occurred, whereas 5 sudden deaths occurred in the group of patients who did not receive a pacemaker. Conclusion We have described a large family with a SCN5A-linked disorder (1795insD) with features of LQT3, Brugada syndrome and familial conduction system disease. Anti-brady pacing was successful in preventing sudden death. The mode of death is possibly bradycardic. ImagesFigure 5 PMID:25696119

  6. Atomoxetine improves patient and family coping in attention deficit/hyperactivity disorder: a randomized, double-blind, placebo-controlled study in Swedish children and adolescents.

    PubMed

    Svanborg, Pär; Thernlund, Gunilla; Gustafsson, Per A; Hägglöf, Bruno; Schacht, Alexander; Kadesjö, Björn

    2009-12-01

    This 10-week study assessed the efficacy of atomoxetine in combination with psychoeducation compared to placebo and psychoeducation in the improvement of Quality of Life in Swedish stimulant-naive children and adolescents with attention deficit/hyperactivity disorder. A total of 99 patients were treated with atomoxetine (49 patients) or placebo (50 patients) for 10 weeks and assessed regarding broader areas of functioning using the Quality of Life measures Child Health and Illness Profile-Child Edition (CHIP-CE), Family Strain Index [FSI; equivalent to the Family Burden of Illness Module used in the study], Appraisal of Stress in Child-Rearing (ASCR), Five to fifteen (FTF), "I think I am" ("Jag tycker jag är"), and Children's Depression Rating Scale-Revised (CDRS-R) before and after the active treatment phase. Simultaneously, the patients' parents participated in a 4-session psychoeducation program. A statistically significant difference in favor of atomoxetine was seen in the improvement from baseline to study endpoint for the CHIP-CE domains "Achievement" and "Risk avoidance", for the FSI total score, for the ASCR section (I) domain "Child as a burden", for all FTF domains except for "Language and Speech", and for the CDRS-R total score. No difference between treatment groups was observed in the patient-assessed evaluation of self-esteem using the "I think I am" scale. Atomoxetine combined with psychoeducation had a positive effect on various everyday coping abilities of the patients as well as their families during 10 weeks of treatment, whereas the patients' self-image and the parents' image of the climate in the family were not significantly improved. PMID:19466476

  7. Exploring the relationship between safety culture and reported dispensing errors in a large sample of Swedish community pharmacies

    PubMed Central

    2012-01-01

    Background The potential for unsafe acts to result in harm to patients is constant risks to be managed in any health care delivery system including pharmacies. The number of reported errors is influenced by a various elements including safety culture. The aim of this study is to investigate a possible relationship between reported dispensing errors and safety culture, taking into account demographic and pharmacy variables, in Swedish community pharmacies. Methods A cross-sectional study was performed, encompassing 546 (62.8%) of the 870 Swedish community pharmacies. All staff in the pharmacies on December 1st, 2007 were included in the study. To assess safety culture domains in the pharmacies, the Safety Attitudes Questionnaire (SAQ) was used. Numbers of dispensed prescription items as well as dispensing errors for each pharmacy across the first half year of 2008 were summarised. Intercorrelations among a number of variables including SAQ survey domains, general properties of the pharmacy, demographic characteristics, and dispensing errors were calculated. A negative binomial regression model was used to further examine the relationship between the variables and dispensing errors. Results The first analysis demonstrated a number of significant correlations between reported dispensing errors and the variables examined. Negative correlations were found with SAQ domains Teamwork Climate, Safety Climate, Job Satisfaction as well as mean age and response rates. Positive relationships were demonstrated with Stress Recognition (SAQ), number of employees, educational diversity, birth country diversity, education country diversity and number of dispensed prescription items. Variables displaying a significant relationship to errors in this analysis were included in the regression analysis. When controlling for demographic variables, only Stress Recognition, mean age, educational diversity and number of dispensed prescription items and employees, were still associated with

  8. "Doesn't Everyone Want That? It's Just a Given": Swedish Emerging Adults' Expectations on Future Parenthood and Work/Family Priorities

    ERIC Educational Resources Information Center

    Frisén, Ann; Carlsson, Johanna; Wängqvist, Maria

    2014-01-01

    This study investigated Swedish emerging adults' expectations on future parenthood through interviews with 124 Swedish emerging adults who were not yet parents. Thematic analysis showed that most participants were sure they wanted to become parents, but not right now. First, they wanted a stable financial situation, a romantic relationship,…

  9. Glycogenosis type VII (Tarui disease) in a Swedish family: Two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions

    SciTech Connect

    Nichols, R.C.; Exelbert, R.; Plotz, P.H.

    1996-07-01

    Phosphofructokinase (PFK) plays a major role in glycolysis. Human PFK is composed of three isoenzyme subunits (muscle [M], liver [L], and platelet [P]), which are encoded by different genes. Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. Several disease-causing mutations have been identified in the PFK-M gene in Japanese, Ashkenazi Jewish, Italian, French Canadian, and Swiss patients. We describe the genetic defect in a Swedish family with affected individuals in two generations. The patients are compound heterozygotes: two different mutations result in retention of intron 13 or intron 16 sequences into mRNA. A G1127A transition destroys the 5{prime} donor site of intron 13, resulting in a 155-nt retention of the intronic sequence. An a-to-g base change in intron 16 creates a new acceptor splice site, resulting in a 63-nt retention of intronic sequence. Both mutations are predicted to result in premature termination of translation. Some of the transcripts generated from the intron 16 mutated allele also contain intron 10 sequence unspliced. 34 refs., 6 figs.

  10. Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.

    PubMed

    Jacobson, Peter; Ukkola, Olavi; Rankinen, Tuomo; Snyder, Eric E; Leon, Arthur S; Rao, D C; Skinner, James S; Wilmore, Jack H; Lönn, Lars; Cowan, George S; Sjöström, Lars; Bouchard, Claude

    2002-10-01

    The prevalence of mutations within and in the flanking regions of the gene encoding the melanocortin 4 receptor was investigated in severely obese and normal-weight subjects from the Swedish Obese Subjects study, the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family study, and a Memphis cohort. A total of 433 white and 95 black subjects (94% females) were screened for mutations by direct sequencing. Three previously described missense variants and nine novel (three missense, six silent) variants were detected. None of them showed significant association with obesity or related phenotypes. In addition, two novel deletions were found in two heterozygous obese women: a -65_-64delTG mutation within the 5' noncoding region and a 171delC frameshift mutation predicted to result in a truncated nonfunctional receptor. No pathogenic mutations were found among obese blacks or nonobese controls. Furthermore, none of the null mutations found in other populations was present in this sample. In conclusion, our results do not support the prevailing notion that sequence variation in the melanocortin 4 receptor gene is a frequent cause of human obesity.

  11. Using the Swedish Model to Motivate the Development of Family/Ethnic Backgrounds as Educational Resources in American Schools.

    ERIC Educational Resources Information Center

    Wernick, Walter

    Educators rarely attempt to exploit the positive features of their students' family and ethnic backgrounds as helpful resources for instruction. Rather, they seek out students' individual differences only when problems arise. Thinking positively about the influences of particular features becomes lost in problem-centered efforts to maintain test…

  12. Airfoil family design for large offshore wind turbine blades

    NASA Astrophysics Data System (ADS)

    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

  13. Swedish views on selenium.

    PubMed

    Bruce, A

    1986-01-01

    For a long time selenium was known only for its toxic characteristics. During the last few decades selenium deficiency has been recognized as an important agricultural problem in Sweden. On average, grains and pastures only contain one tenth of the amount of selenium considered necessary to avoid symptoms of deficiency. However, the incidence of muscle degeneration among the animals has been low, probably due to imported animal feed. Since 1980 selenium has been added to animal feed, but only minor changes in the selenium content of Swedish food stuffs have been recorded. Some studies have shown that the average Swedish dietary intake of selenium is 10-70 micrograms/day. The lowest levels were found in vegan diets, based on locally-grown products. Swedish studies have found depressed glutathione peroxidase (GSH-Px) levels in patients with various skin disorders, including acne; myotonic dystrophy and rheumatic arthritis. Clinical trials with selenium supplementation have given positive results in some of these disorders as well as in some patients with disabling muscular and joint pains. Today there is a large sale of selenium tablets sometimes with additional vitamin E. The marketing of these tablets, however, is often based on unsubstantiated claims. PMID:3717875

  14. Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant

    PubMed Central

    Svensson, Anneli; Åström-Aneq, Meriam; Widlund, Kjerstin Ferm; Fluur, Christina; Green, Anna; Rehnberg, Malin; Gunnarsson, Cecilia

    2016-01-01

    In this study, the genotype-phenotype correlations in four unrelated families with a PKP2 c.2146-1G>C gene variant were studied. Our primary aim was to determine the carriers that fulfilled the arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnostic criteria of 2010. Our secondary aim was to investigate whether any specific clinical characteristics can be attributed to this particular gene variant. Index patients were assessed using next generation ARVC panel sequencing technique and their family members were assessed by Sanger sequencing targeted at the PKP2 c.2146-1G>C variant. The gene variant carriers were offered a clinical follow-up, with evaluation based on the patient’s history and a standard set of non-invasive testing. The PKP2 c.2146-1G>C gene variant was found in 23 of 41 patients who underwent the examination. Twelve of the 19 family members showed “possible ARVC”. One with “borderline ARVC” and the rest with “definite ARVC” demonstrated re-polarization disturbances, but arrhythmia was uncommon. A lethal event occurred in a 14-year-old boy. In the present study, no definitive genotype-phenotype correlations were found, where the majority of the family members carrying the PKP2 c.2146-1G>C gene variant were diagnosed with “possible ARVC”. These individuals should be offered a long-term follow-up since they are frequently symptomless but still at risk for insidious sudden cardiac death due to ventricular arrhythmia. PMID:27335691

  15. Paradigms in Swedish as a Second Language--Curricula for Primary School and Secondary School in Swedish as a Second Language

    ERIC Educational Resources Information Center

    Magnusson, Ulrika

    2013-01-01

    This article analyzes and compares the curricula of Swedish and Swedish as a second language for primary and secondary school. The school subject of Swedish as a second language is young, and its ideological foundation has not been debated to any large extent, in contrast to Swedish. This article analyzes the curricula of both subjects in terms of…

  16. Triparental Families: A New Genetic-Epidemiological Design Applied to Drug Abuse, Alcohol Use Disorders, and Criminal Behavior in a Swedish National Sample

    PubMed Central

    Kendler, Kenneth S.; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-01-01

    Objective The authors sought to clarify the sources of parent-offspring resemblance for drug abuse, alcohol use disorders, and criminal behavior, using a novel genetic-epidemiological design. Method Using national registries, the authors identified rates of drug abuse, alcohol use disorders, and criminal behavior in 41,360 Swedish individuals born between 1960 and 1990 and raised in triparental families comprising a biological mother who reared them, a “not-lived-with” biological father, and a stepfather. Results When each syndrome was examined individually, hazard rates for drug abuse in offspring of parents with drug abuse were highest for mothers (2.80, 95% CI=2.23–3.38), intermediate for not-lived-with fathers (2.45,95%CI=2.14–2.79), and lowest for stepfathers (1.99, 95% CI=1.55–2.56). The same pattern was seen for alcohol use disorders (2.23, 95% CI=1.93–2.58; 1.84, 95% CI=1.69–2.00; and 1.27, 95% CI=1.12–1.43) and criminal behavior (1.55, 95% CI=1.44–1.66; 1.46, 95%CI=1.40–1.52; and1.30, 95% CI=1.23–1.37). When all three syndromes were examined together, specificity of cross-generational transmission was highest for mothers, intermediate for not-lived-with fathers, and lowest for stepfathers. Analyses of intact families and other not-lived-with parents and stepparents showed similar cross-generation transmission for these syndromes in mothers and fathers, supporting the representativeness of results from triparental families. Conclusions A major strength of the triparental design is its inclusion, within a single family, of parents who provide, to a first approximation, their offspring with genes plus rearing, genes only, and rearing only. For drug abuse, alcohol use disorders, and criminal behavior, the results of this study suggest that parent-offspring transmission involves both genetic and environmental processes, with genetic factors being somewhat more important. These results should be interpreted in the context of the strengths

  17. Scavenger treatment of free radical injury in familial amyloidotic polyneuropathy: a study on Swedish transplanted and non-transplanted patients.

    PubMed

    Suhr, O B; Lång, K; Wikström, L; Anan, I; Ando, Y; El-Salhy, M; Holmgren, G; Tashima, K

    2001-02-01

    Since oxidative stress has been implicated in amyloid diseases, a study of scavenger treatment of hereditary transthyretin amyloidosis was undertaken on 23 familial amyloidotic polyneuropathy (FAP) patients. Nine patients had undergone a liver transplantation for the disease. Twenty patients completed the 6-month study period of scavenger treatment (vitamin C, 1 g, three times daily, vitamin E, 0.1 g, three times daily and acetylcysteine, 0.2 g three times daily). They were evaluated clinically and by immunohistochemical measurement of hydroxynonenal (HNE), a product of lipid peroxidation, in biopsy specimens. For non-transplanted patients, no improvement was found for HNE in relation to the amyloid content in biopsy specimens, whereas a tendency to a decreased amount was noted for transplanted patients. Clinically, no differences were found for non-transplanted patients, but an increased nutritional status, measured by a modified body mass index (mBMI) was noted for transplanted patients. In summary, scavenger treatment with the drugs and doses used in the present study appears to be unable to decrease lipid peroxidation in amyloid-rich tissue in non-transplanted FAP patients. For transplanted patients, lipid peroxidation tended to decrease, and the nutritional status measured by mBMI improved, even though the findings may be explained by liver transplantation alone, scavenger treatment may facilitate recovery after transplantation.

  18. KIC 8462852: Transit of a Large Comet Family

    NASA Astrophysics Data System (ADS)

    Bodman, Eva H. L.; Quillen, Alice

    2016-03-01

    We investigate the plausibility of a cometary source of the unusual transits observed in the KIC 8462852 light curve. A single comet of similar size to those in our solar system produces a transit depth of the order of 10-3 lasting less than a day which is much smaller and shorter than the largest dip observed (˜ 20% for ˜3 days), but a large, closely traveling cluster of comets can fit the observed depths and durations. We find that a series of large comet swarms, with all except one on the same orbit, provides a good fit for the KIC 8462852 data during Quarters 16 and 17, but does not explain the large dip observed during Quarter 8. However, the transit dips only loosely constrain the orbits and can be fit by swarms with periastrons differing by a factor of 10. To reach a transit depth of ˜0.2, the comets need to be in a close group of ˜30, if they are ˜100 km in radius or in a group of ˜300 if they are ˜10 km in radius. The total number of comets required to fit all of the dips is ˜70 ˜ 100 km or ˜700 ˜ 10 km comets. A single comet family from a tidally disrupted Ceres-sized progenitor or the start of a Late Heavy Bombardment period explains the last ˜60 days of the unusual KIC 8462852 light curve.

  19. A large family of filled skutterudites stabilized by electron count.

    PubMed

    Luo, Huixia; Krizan, Jason W; Muechler, Lukas; Haldolaarachchige, Neel; Klimczuk, Tomasz; Xie, Weiwei; Fuccillo, Michael K; Felser, Claudia; Cava, Robert J

    2015-01-01

    The Zintl concept is important in solid-state chemistry to explain how some compounds that combine electropositive and main group elements can be stable at formulas that at their simplest level do not make any sense. The electronegative elements in such compounds form a polyatomic electron-accepting molecule inside the solid, a 'polyanion', that fills its available energy states with electrons from the electropositive elements to obey fundamental electron-counting rules. Here we use this concept to discover a large family of filled skutterudites based on the group 9 transition metals Co, Rh, and Ir, the alkali, alkaline-earth, and rare-earth elements, and Sb4 polyanions. Forty-three new filled skutterudites are reported, with 63 compositional variations--results that can be extended to the synthesis of hundreds of additional new compounds. Many interesting electronic and magnetic properties can be expected in future studies of these new compounds. PMID:25744553

  20. Familial pattern of large vestibular aqueduct syndrome in a Chinese family

    PubMed Central

    Hazmi, Mohd; Ab Aziz, A.; Asma, A.

    2013-01-01

    Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss. PMID:27034633

  1. Mismatches in genetic markers in a large family study.

    PubMed Central

    Ashton, G C

    1980-01-01

    The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biological parent were used to determine the rate of undeclared nonparentage in 1,748 families in which conventional relationships were claimed. Two independent approaches gave consistent estimates, suggesting that approximately 2.3% of the 2,839 tested children from these families were probably the result of infidelity, concealed adoption, or another event. About two-thirds of the mismatches detected were probably due to properties of the techniques employed. PMID:6930820

  2. Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

    PubMed Central

    Carre, I; Johnston, B; Thomas, P; Morrison, P

    1999-01-01

    BACKGROUND—Familial hiatal hernia has only rarely been documented.
AIMS—To describe the pattern of inheritance of familial hiatal hernia within an affected family.
SUBJECTS—Thirty eight members of a family pedigree across five generations.
METHODS—All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia.
RESULTS—Twenty three of 38 family members had radiological evidence of a hiatal hernia. No individual with a hiatal hernia was born to unaffected parents. In one case direct male to male transmission was shown.
CONCLUSIONS—Familial inheritance of hiatal hernia does occur. Evidence of direct male to male transmission points to an autosomal dominant mode of inheritance.


Keywords: familial hiatal hernia; Barrett's oesophagus; autosomal dominant genetics PMID:10517898

  3. Expressing Communicative Intents in Estonian, Finnish, and Swedish Mother-Adolescent Interactions

    ERIC Educational Resources Information Center

    Tulviste, Tiia; Mizera, Luule; De Geer, Boel

    2004-01-01

    The present article focused on two types of communicative intent (directing behaviour vs. eliciting talk) expressed by mothers and teenagers during everyday family interactions in Estonian, Finnish, and Swedish mono- and bicultural families. Three monocultural groups consisted of 17 Estonian, 19 Swedish, and 18 Finnish families living in their…

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

    SciTech Connect

    Peiffer, A.; Leppert, M.; Wetering, B.J.M. van der

    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.

  5. FamAgg: an R package to evaluate familial aggregation of traits in large pedigrees

    PubMed Central

    Rainer, Johannes; Taliun, Daniel; D’Elia, Yuri; Pattaro, Cristian; Domingues, Francisco S.; Weichenberger, Christian X.

    2016-01-01

    Summary: Familial aggregation analysis is the first fundamental step to perform when assessing the extent of genetic background of a disease. However, there is a lack of software to analyze the familial clustering of complex phenotypes in very large pedigrees. Such pedigrees can be utilized to calculate measures that express trait aggregation on both the family and individual level, providing valuable directions in choosing families for detailed follow-up studies. We developed FamAgg, an open source R package that contains both established and novel methods to investigate familial aggregation of traits in large pedigrees. We demonstrate its use and interpretation by analyzing a publicly available cancer dataset with more than 20 000 participants distributed across approximately 400 families. Availability and implementation: The FamAgg package is freely available at the Bioconductor repository, http://www.bioconductor.org/packages/FamAgg. Contact: Christian.Weichenberger@eurac.edu Supplementary information: Supplementary data are available at Bioinformatics online. PMID:26803158

  6. Reports on Swedish Projects Relevant to the Study of Impromptu Speech: Talsyntax.

    ERIC Educational Resources Information Center

    Loman, Bengt

    The project Talsyntax (Syntax of Spoken Swedish), part of a large-scale study of modern Swedish language usage, examined the general characteristics and peculiarities of spoken Swedish. Three important aspects of the study are data collection, methodological results, and empirical results. The data collection effort has produced an archive of…

  7. A large family of anti‐activators accompanying XylS/AraC family regulatory proteins

    PubMed Central

    Yan, Michael B.; Tran, Minh; Wright, Nathan; Luzader, Deborah H.; Kendall, Melissa M.; Ruiz‐Perez, Fernando; Nataro, James P.

    2016-01-01

    Summary AraC Negative Regulators (ANR) suppress virulence genes by directly down‐regulating AraC/XylS members in Gram‐negative bacteria. In this study, we sought to investigate the distribution and molecular mechanisms of regulatory function for ANRs among different bacterial pathogens. We identified more than 200 ANRs distributed in diverse clinically important gram negative pathogens, including Vibrio spp., Salmonella spp., Shigella spp., Yersinia spp., Citrobacter spp., enterotoxigenic (ETEC) and enteroaggregative E. coli (EAEC), and members of the Pasteurellaceae. By employing a bacterial two hybrid system, pull down assays and surface plasmon resonance (SPR) analysis, we demonstrate that Aar (AggR‐activated regulator), a prototype member of the ANR family in EAEC, binds with high affinity to the central linker domain of AraC‐like member AggR. ANR‐AggR binding disrupted AggR dimerization and prevented AggR‐DNA binding. ANR homologs of Vibrio cholerae, Citrobacter rodentium, Salmonella enterica and ETEC were capable of complementing Aar activity by repressing aggR expression in EAEC strain 042. ANR homologs of ETEC and Vibrio cholerae bound to AggR as well as to other members of the AraC family, including Rns and ToxT. The predicted proteins of all ANR members exhibit three highly conserved predicted α‐helices. Site‐directed mutagenesis studies suggest that at least predicted α‐helices 2 and 3 are required for Aar activity. In sum, our data strongly suggest that members of the novel ANR family act by directly binding to their cognate AraC partners. PMID:27038276

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

    PubMed

    1993-11-01

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

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

    PubMed Central

    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.

    2014-01-01

    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. PMID:20882324

  10. The Swedish space programme

    NASA Astrophysics Data System (ADS)

    Helger, Arne

    The Swedish National Space Board (SNSB) under the Ministry of Industry is the central governmental agency responsible for the goverment-funded Swedish national and international space and remote sensing activities. The technical implementation is mainly contracted by the Board to the state-owned Swedish Space Corporation (SSC). International cooperation is a cornerstone in the Swedish space activities, absorbing more than 80% of the total national budget. Within ESA, Sweden participates in practically all infrastructure and applications programs. Basic research, mainly concentrated to the near earth space physics, microgravity and remote sensing are important elements in the Swedish space program. Sweden participates in the French Spot program. At Esrange, data reception, and satellite control, and tracking, telemetry command (TT&C) are performed for many international satellite projects. An SSC subsidiary, SATELLITBILD, is archiving, processing and distributing remote sensing data worldwide. The National Space Development Agency of Japan (NASDA) has established a portable TT&C station for JERS-1 at Esrange, Kiruna. A center for international research on the ozone problem has been established at Esrange and Kiruna. A new sounding rocket for 15 minutes of microgravity research, MAXUS, has been developed by SSC in cooperation with Germany. A national scientific satellite, FREJA, is planned to be launched late 1992.

  11. Internal organization of large protein families: relationship between the sequence, structure and function based clustering

    PubMed Central

    Cai, Xiao-hui; Jaroszewski, Lukasz; Wooley, John; Godzik, Adam

    2011-01-01

    The protein universe can be organized in families that group proteins sharing common ancestry. Such families display variable levels of structural and functional divergence, from homogenous families, where all members have the same function and very similar structure, to very divergent families, where large variations in function and structure are observed. For practical purposes of structure and function prediction, it would be beneficial to identify sub-groups of proteins with highly similar structures (iso-structural) and/or functions (iso-functional) within divergent protein families. We compared three algorithms in their ability to cluster large protein families and discuss whether any of these methods could reliably identify such iso-structural or iso-functional groups. We show that clustering using profile-sequence and profile-profile comparison methods closely reproduces clusters based on similarities between 3D structures or clusters of proteins with similar biological functions. In contrast, the still commonly used sequence-based methods with fixed thresholds result in vast overestimates of structural and functional diversity in protein families. As a result, these methods also overestimate the number of protein structures that have to be determined to fully characterize structural space of such families. The fact that one can build reliable models based on apparently distantly related templates is crucial for extracting maximal amount of information from new sequencing projects. PMID:21671455

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

    PubMed Central

    Zielinski, Julia; Kondrashov, Fyodor

    2016-01-01

    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. PMID:27248802

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

    PubMed

    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.

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

    PubMed Central

    Schiffer, Philipp H.; Gravemeyer, Jan; Rauscher, Martina; Wiehe, Thomas

    2016-01-01

    Gene duplication is an important mechanism of molecular evolution. It offers a fast track to modification, diversification, redundancy or rescue of gene function. However, duplication may also be neutral or (slightly) deleterious, and often ends in pseudo-geneisation. Here, we investigate the phylogenetic distribution of ultra large gene families on long and short evolutionary time scales. In particular, we focus on a family of NACHT-domain and leucine-rich-repeat-containing (NLR)-genes, which we previously found in large numbers to occupy one chromosome arm of the zebrafish genome. We were interested to see whether such a tight clustering is characteristic for ultra large gene families. Our data reconfirm that most gene family inflations are lineage-specific, but we can only identify very few gene clusters. Based on our observations we hypothesise that, beyond a certain size threshold, ultra large gene families continue to proliferate in a mechanism we term “run-away evolution”. This process might ultimately lead to the failure of genomic integrity and drive species to extinction. PMID:27509525

  15. Association between neighbourhood air pollution concentrations and dispensed medication for psychiatric disorders in a large longitudinal cohort of Swedish children and adolescents

    PubMed Central

    Bråbäck, Lennart; Åström, Daniel Oudin; Strömgren, Magnus; Forsberg, Bertil

    2016-01-01

    Objective To investigate associations between exposure to air pollution and child and adolescent mental health. Design Observational study. Setting Swedish National Register data on dispensed medications for a broad range of psychiatric disorders, including sedative medications, sleeping pills and antipsychotic medications, together with socioeconomic and demographic data and a national land use regression model for air pollution concentrations for NO2, PM10 and PM2.5. Participants The entire population under 18 years of age in 4 major counties. We excluded cohort members whose parents had dispensed a medication in the same medication group since the start date of the register. The cohort size was 552 221. Main outcome measures Cox proportional hazards models to estimate HRs and their 95% CIs for the outcomes, adjusted for individual-level and group-level characteristics. Results The average length of follow-up was 3.5 years, with an average number of events per 1000 cohort members of ∼21. The mean annual level of NO2 was 9.8 µg/m3. Children and adolescents living in areas with higher air pollution concentrations were more likely to have a dispensed medication for a psychiatric disorder during follow-up (HR=1.09, 95% CI 1.06 to 1.12, associated with a 10 µg/m3 increase in NO2). The association with NO2 was clearly present in 3 out of 4 counties in the study area; however, no statistically significant heterogeneity was detected. Conclusion There may be a link between exposure to air pollution and dispensed medications for certain psychiatric disorders in children and adolescents even at the relatively low levels of air pollution in the study regions. The findings should be corroborated by others. PMID:27259522

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

    PubMed

    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.

  17. Attention Interchanges at Story-Time: A Case Study from a Deaf and Hearing Twin Pair Acquiring Swedish Sign Language in Their Deaf Family

    ERIC Educational Resources Information Center

    Cramer-Wolrath, Emelie

    2012-01-01

    This case study longitudinally analyzes and describes the changes of attentional expressions in interchanges between a pair of fraternal twins, 1 deaf and 1 hearing, from the age of 10-40 months, and their Deaf family members. The video-observed attentional expressions of initiating and reestablishing interchange were grouped in 5 functional…

  18. Common Origin of Four Diverse Families of Large Eukaryotic DNA Viruses

    PubMed Central

    Iyer, Lakshminarayan M.; Aravind, L.; Koonin, Eugene V.

    2001-01-01

    Comparative analysis of the protein sequences encoded in the genomes of three families of large DNA viruses that replicate, completely or partly, in the cytoplasm of eukaryotic cells (poxviruses, asfarviruses, and iridoviruses) and phycodnaviruses that replicate in the nucleus reveals 9 genes that are shared by all of these viruses and 22 more genes that are present in at least three of the four compared viral families. Although orthologous proteins from different viral families typically show weak sequence similarity, because of which some of them have not been identified previously, at least five of the conserved genes appear to be synapomorphies (shared derived characters) that unite these four viral families, to the exclusion of all other known viruses and cellular life forms. Cladistic analysis with the genes shared by at least two viral families as evolutionary characters supports the monophyly of poxviruses, asfarviruses, iridoviruses, and phycodnaviruses. The results of genome comparison allow a tentative reconstruction of the ancestral viral genome and suggest that the common ancestor of all of these viral families was a nucleocytoplasmic virus with an icosahedral capsid, which encoded complex systems for DNA replication and transcription, a redox protein involved in disulfide bond formation in virion membrane proteins, and probably inhibitors of apoptosis. The conservation of the disulfide-oxidoreductase, a major capsid protein, and two virion membrane proteins indicates that the odd-shaped virions of poxviruses have evolved from the more common icosahedral virion seen in asfarviruses, iridoviruses, and phycodnaviruses. PMID:11689653

  19. Genetic heterogeneity in psoriasis vulgaris based on linkage analyses of a large family material

    SciTech Connect

    Wahlstroem, J.; Swanbeck, G.; Inerot, A.

    1994-09-01

    Information on psoriasis among parents and siblings in 14,008 families has been collected. On the basis of this material, evidence for monogenetic autosomal recessive inheritance of psoriasis has recently been presented. Indications from more than one type of non-pustular psoriasis has been obtained from the population genetic data. Molecular genetic linkage analysis of psoriasis to a number of polymorphic genetic markers for a large number of families has been made. It is apparent that there is genetic heterogeneity in a psoriasis population with regard to psoriasis genes. Using the computer program Linkage 5.0 and a formula for heterogeneity, a lodscore over 3.0 for one locus has been obtained. This locus has further been confirmed by several other markers in the vicinity. The locus found is linked to slightly over half of the families, indicating that there are more genetically independent types of psoriasis. The age at onset of those families that are apparently linked to this locus have a slightly higher age at onset than those not linked to that locus but with a considerable overlap. In spite of close coverage of the whole chromosomes number 6 and 17, no linkage has been found in this regions. This indicates that neither the HLA region nor the region earlier found to be involved in one family with psoriasis are primarily involved in our families.

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

    PubMed Central

    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

  1. Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.

    PubMed

    Yu, Xinping; Shi, Wei; Cheng, Lulu; Wang, Yanfang; Chen, Ding; Hu, Xuting; Xu, Jinling; Xu, Limin; Wu, Yaming; Qu, Jia; Gu, Feng

    2016-01-01

    Retinitis pigmentosa (RP) is a genetically highly heterogeneous retinal disease and one of the leading causes of blindness in the world. Next-generation sequencing technology has enormous potential for determining the genetic etiology of RP. We sought to identify the underlying genetic defect in a 35-year-old male from an autosomal-dominant RP family with 14 affected individuals. By capturing next-generation sequencing (CNGS) of 144 genes associated with retinal diseases, we identified eight novel DNA variants; however, none of them cosegregated for all the members of the family. Further analysis of the CNGS data led to identification of a recurrent missense mutation (c.403C > T, p.R135W) in the rhodopsin (RHO) gene, which cosegregated with all affected individuals in the family and was not observed in any of the unaffected family members. The p.R135W mutation has a reference single nucleotide polymorphism (SNP) ID (rs104893775), and it appears to be responsible for the disease in this large family. This study highlights the importance of examining NGS data with reference SNP IDs. Thus, our study is important for data analysis of NGS-based clinical genetic diagnoses. PMID:26794436

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

    SciTech Connect

    Edwards, M.J.; Roberts, J.; Partington, M.W.; Colley, P.W.; Hollway, G.E.; Kozman, H.M.; Mulley, J.C.

    1994-10-15

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

  3. Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family.

    PubMed

    Cherkaoui Jaouad, I; El Alloussi, M; Laarabi, F Z; Bouhouche, A; Ameziane, R; Sefiani, A

    2013-08-01

    Dentin dysplasia is a rare autosomal dominant genetic disease characterized by defect of dentin development and the causal gene is DSPP (Dentin Sialophosphoprotein gene). We report in the present study a large Moroccan family in which dentin dysplasia is clearly transmitted as an autosomal recessive trait. Four males and females family members born from healthy consanguineous parents are carriers of the typical features of the dentin dysplasia type I. Polymorphic markers that span the DSPP gene, allowed us to show that this locus is not linked to dentin dysplasia in our family. We also excluded in our family the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth. This family represents, a new description of autosomal recessive pattern of inheritance of dentin dysplasia type I. Moreover, this form of dentin dysplasia is not allelic to the autosomal dominant dentin dysplasia and the genetic cause is to be discovered.

  4. A large multigene family codes for the polypeptides of the crystalline trichocyst matrix in Paramecium.

    PubMed Central

    Madeddu, L; Gautier, M C; Vayssié, L; Houari, A; Sperling, L

    1995-01-01

    The secretory granules (trichocysts) of Paramecium are characterized by a highly constrained shape that reflects the crystalline organization of their protein contents. Yet the crystalline trichocyst content is composed not of a single protein but of a family of related polypeptides that derive from a family of precursors by protein processing. In this paper we show that a multigene family, of unusually large size for a unicellular organism, codes for these proteins. The family is organized in subfamilies; each subfamily codes for proteins with different primary structures, but within the subfamilies several genes code for nearly identical proteins. For one subfamily, we have obtained direct evidence that the different members are coexpressed. The three subfamilies we have characterized are located on different macronuclear chromosomes. Typical 23-29 nucleotide Paramecium introns are found in one of the regions studied and the intron sequences are more variable than the surrounding coding sequences, providing gene-specific markers. We suggest that this multigene family may have evolved to assure a microheterogeneity of structural proteins necessary for morphogenesis of a complex secretory granule core with a constrained shape and dynamic properties: genetic analysis has shown that correct assembly of the crystalline core is necessary for trichocyst function. Images PMID:7579685

  5. Environmental Management at Swedish Universities

    ERIC Educational Resources Information Center

    Arvidsson, Karin

    2004-01-01

    Since 1996, all Swedish public authorities, which includes most universities, have been made responsible for contributing to the sustainable development of the society. Swedish universities are thus required to submit annual environmental reports about their policies, structures and actions. This study provides a review of the activities that…

  6. Genomic Selection For Bacterial Cold Water Disease Resistance In Rainbow Trout Reveals Large Within-Family Variation That Cannot Be Exploited In Traditional Family-based Selective Breeding

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Selective breeding is an effective strategy to improve resistance to specific pathogens, and thus has the potential to mitigate antibiotic use in aquaculture. Large family sizes of aquaculture species permits family-based selective breeding programs, but the need for specific-pathogen-free nucleus p...

  7. Injuries in Swedish skydiving

    PubMed Central

    Westman, Anton; Björnstig, Ulf

    2007-01-01

    Objective To create a basis for prevention of modern skydiving injuries. Design Descriptive epidemiological study. Setting National total material. Patients Data on all reported injury events (n = 257) in Swedish skydiving 1999–2003 (total 539 885 jumps) were retrieved from the Swedish Parachute Association. Non‐fatally injured skydivers were sent a questionnaire asking for event and injury details (response rate 89%), and supplementary hospital records were retrieved for the most serious injuries (n = 85). Human, equipment and environmental factors were assessed for risk. Main Outcome Measurements Frequency and severity of injuries. Results Incidence of non‐fatal injury events was 48 per 100 000 jumps. The lower extremities, spine and shoulders were important regions of injury. The most serious injuries were experienced by licensed skydivers, but students in training had a higher injury rate and more often left the sport because of the injury. Of two student‐training systems, one had an incidence less than half that of the other. Conclusions A basis for prevention was created, showing a potential for reduction of frequency and severity of injuries with training and technical interventions. PMID:17224436

  8. Swedish small satellites

    NASA Astrophysics Data System (ADS)

    Lundahl, K.; von Scheele, F.

    2004-11-01

    In 1986 the first Swedish small satellite VIKING was launched on the Ariane 1 rocket together with the French remote sensing satellite SPOT-1. This paper describes the development of Swedish small satellites in an international framework. The satellites have delivered excellent scientific data to a low cost by using e.g. streamlined project organisations, competitive procurement programs and piggy-back launch opportunities. The first micro satellite Astrid-1 was launched in January 1995 and was followed by the launch of Astrid-2 in December 1998. The capable Odin small satellite was launched in February 2001. SSC was also contracted for ESA's SMART-1 probe destined to the Moon. SMART-1, launched in September 2003, is used for both research and as a technology demonstrator for future projects. Future proposed projects include micro and small satellites for climate research as the Atmosphere and Climate Explorer Plus (ACE+), the Stratosphere-Troposphere Exchange And climate Monitor (STEAM) and PRISMA, a technology demonstrator for formation flying, new propulsion system and commercial development methods.

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

    PubMed

    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. PMID:19436536

  10. Towards identification of an epilepsy gene in a large family with idiopathic generalized epilepsy

    SciTech Connect

    Roussear, M.; Lopes-Cendes, I.; Berkovic, S.F.

    1994-09-01

    To identify the disease gene in a large, multiplex family segregating an autosomal dominant form of idiopathic generalized epilepsy (IGE). The IGEs have been recognized for several decades as being genetically determined. However, large pedigrees with a clear Mendelian inheritance are not commonly available. This, and the presence of locus heterogeneity have been obstacles to the identification of linkage in several IGE syndromes. We have identified a large IGE kindred with fifty-eight living individuals, including 26 affecteds, showing a clear autosomal dominant inheritance with incomplete penetrance. Forty-fur informative individuals, including 23 affecteds, were selected for the linkage studies. We have chosen 200 polymorphic microsatellite markers, about 20 cM apart, throughout the human autosomes as a genome-search linkage strategy. To date, 47 markers, representing 30% of the human genome, have been excluded for linkage in the Australian kindred. As our study progresses, we will report up-to-date results.

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

    PubMed

    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.

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

    PubMed Central

    Solis, DC; Burnichon, N; Timmers, HJLM; Raygada, MJ; Kozupa, A; Merino, MJ; Makey, D; Adams, KT; Venisse, A; Gimenez-Roqueplo, A-P; Pacak, K

    2016-01-01

    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. PMID:19389109

  13. Radiotherapy in implant-based immediate breast reconstruction: risk factors, surgical outcomes, and patient-reported outcome measures in a large Swedish multicenter cohort.

    PubMed

    Eriksson, Max; Anveden, Lotta; Celebioglu, Fuat; Dahlberg, Kristina; Meldahl, Ingrid; Lagergren, Jakob; Eriksen, Catharina; de Boniface, Jana

    2013-12-01

    The purpose of this large cohort study was to analyze the effects of prior and postoperative radiotherapy (RT) on surgical outcomes and patient-reported outcome measures (PROMs) in implant-based immediate breast reconstruction (IBR). All breast cancer patients (n = 725, of whom 29 had bilateral IBR) operated with implant-based IBR at four Stockholm hospitals from 2007 to 2011 were included. The median follow-up was 43 months. Three groups were compared: no RT (n = 386), prior RT (n = 64), and postoperative RT (n = 304). Outcomes were IBR failure (implant loss with or without secondary autologous reconstruction), unplanned reoperations, and PROMs, as measured by the BreastQ(®) questionnaire. IBR failure occurred in 22/386 (6 %) of non-irradiated cases, 16/64 (25 %) after prior and 45/304 (15 %) after postoperative RT (p < 0.001). Failure risk was higher after prior than postoperative RT (HR 9.28 vs. 3.08). Further risk factors were high BMI, less surgeon reconstructive experience, and postoperative infection, while the use of permanent implants lowered the risk of IBR failure. The estimated 5 years IBR failure rate was 10.4 % for non-irradiated, 28.2 % for previously and 25.2 % for postoperatively irradiated patients (p < 0.001). At least one unplanned reoperation occurred in 169/384 of non-irradiated (44 %), 42/64 (66 %) of previously, and 180/303 (59 %) of postoperatively irradiated breasts (p < 0.001). Further contributing factors were the use of one-stage expander and permanent implants, less surgeon reconstructive experience, and smoking. RT significantly impaired scores on all scales of the BreastQ(®). However, a clear majority of women in all groups would choose IBR again. Implant-based IBR remains a feasible option for women undergoing mastectomy as patient satisfaction levels are high. After prior RT, however, autologous alternatives should be considered.

  14. Generalized amyloid in a family of Swedish origin. A study of 426 family members in seven generations of a new kinship with neuropathy, nephropathy, and central nervous system involvement.

    PubMed

    Benson, M D; Cohen, A S

    1977-04-01

    We report a new kinship with systemic amyloid presenting as peripheral neuropathy in the fourth and fifth decades of life. A progressive sensory and motor loss starting in the lower extremities occurs from this disease, and there is subsequent renal, cardiac, gastrointestinal, ocular, and cutaneous involvement. Histologic studies show that amyloid deposition is mainly in connective tissue structures; there is an unusual infiltration of the meninges and central nervous system. Review of records of 426 family members in seven generations showed that this disease is inherited as an autosomal dominant. The absence of immunoglobulin disorders in two affected family members studied in depth suggests that this is not the primary type of amyloid in which the deposits are composed of fragments of immunoglobulin light chains. Similarly the absence of elevated levels of protein SAA (the serum precursor of secondary amyloid) suggests that this is not a secondary form of amyloid. PMID:192115

  15. Protocol design for large-scale cross-sectional studies of sexual abuse and associated factors in individual sports: feasibility study in Swedish athletics.

    PubMed

    Timpka, Toomas; Janson, Staffan; Jacobsson, Jenny; Ekberg, Joakim; Dahlström, Örjan; Kowalski, Jan; Bargoria, Victor; Mountjoy, Margo; Svedin, Carl G

    2015-03-01

    A research protocol for cross-sectional epidemiological studies of sexual abuse in athletics was designed and its feasibility evaluated.The definition of sexual abuse, ethical soundness of the protocol, reference populations and study of co-morbidity, and means for athlete-level data collection were in requirements analyses identified as particularly complex design issues.The feasibility evaluation showed a high non-participation rate (61%), but also that the large majority of participants found the study important and that questions were answered truthfully.Responding that partaking in the study was not personally gratifying was associated with training more hours.When implementing cross-sectional epidemiological studies of sexual abuse in athletics, it is necessary to promote and facilitate athlete participation. PMID:25729306

  16. Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy.

    PubMed

    Gambardella, A; Messina, D; Le Piane, E; Oliveri, R L; Annesi, G; Zappia, M; Andermann, E; Quattrone, A; Aguglia, U

    2000-02-01

    To further elucidate the inheritance pattern and range of phenotypic manifestations of benign familial temporal lobe epilepsy (FTLE), we report a large family recently identified in southern Italy. There were 8 patients (4 men), ranging in age from 31 to 68 years in three generations. One affected patient was deceased at the time of the study. Genealogical study strongly supported autosomal dominant inheritance with incomplete penetrance, as three unaffected individuals transmitted the disease. Clinical anticipation could not be assessed because of the ascertainment method. Male to male transmission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma, respectively. Migraine was overrepresented in this family. Onset of seizures ranged from 17 to 52 years (mean: 27 years). All patients had weekly simple partial seizures suggestive of temporal origin with vegetative or experiential phenomena. Very rare partial complex seizures occurred in 6/7 patients. One had two generalized nocturnal seizures as well. Two had previously been misdiagnosed as having gastritis or panic attacks, and one had not been diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures.

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

    PubMed

    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.

  18. Swedish nuclear waste efforts

    SciTech Connect

    Rydberg, J.

    1981-09-01

    After the introduction of a law prohibiting the start-up of any new nuclear power plant until the utility had shown that the waste produced by the plant could be taken care of in an absolutely safe way, the Swedish nuclear utilities in December 1976 embarked on the Nuclear Fuel Safety Project, which in November 1977 presented a first report, Handling of Spent Nuclear Fuel and Final Storage of Vitrified Waste (KBS-I), and in November 1978 a second report, Handling and Final Storage of Unreprocessed Spent Nuclear Fuel (KBS II). These summary reports were supported by 120 technical reports prepared by 450 experts. The project engaged 70 private and governmental institutions at a total cost of US $15 million. The KBS-I and KBS-II reports are summarized in this document, as are also continued waste research efforts carried out by KBS, SKBF, PRAV, ASEA and other Swedish organizations. The KBS reports describe all steps (except reprocessing) in handling chain from removal from a reactor of spent fuel elements until their radioactive waste products are finally disposed of, in canisters, in an underground granite depository. The KBS concept relies on engineered multibarrier systems in combination with final storage in thoroughly investigated stable geologic formations. This report also briefly describes other activities carried out by the nuclear industry, namely, the construction of a central storage facility for spent fuel elements (to be in operation by 1985), a repository for reactor waste (to be in operation by 1988), and an intermediate storage facility for vitrified high-level waste (to be in operation by 1990). The R and D activities are updated to September 1981.

  19. A large family of divergent Drosophila odorant-binding proteins expressed in gustatory and olfactory sensilla.

    PubMed

    Galindo, K; Smith, D P

    2001-11-01

    We identified a large family of putative odorant-binding protein (OBP) genes in the genome of Drosophila melanogaster. Some of these genes are present in large clusters in the genome. Most members are expressed in various taste organs, including gustatory sensilla in the labellum, the pharyngeal labral sense organ, dorsal and ventral cibarial organs, as well as taste bristles located on the wings and tarsi. Some of the gustatory OBPs are expressed exclusively in taste organs, but most are expressed in both olfactory and gustatory sensilla. Multiple binding proteins can be coexpressed in the same gustatory sensillum. Cells in the tarsi that express OBPs are required for normal chemosensation mediated through the leg, as ablation of these cells dramatically reduces the sensitivity of the proboscis extension reflex to sucrose. Finally, we show that OBP genes expressed in the pharyngeal taste sensilla are still expressed in the poxneuro genetic background while OBPs expressed in the labellum are not. These findings support a broad role for members of the OBP family in gustation and olfaction and suggest that poxneuro is required for cell fate determination of labellar but not pharyngeal taste organs. PMID:11729153

  20. Signals of supersymmetry with inaccessible first two families at the Large Hadron Collider

    SciTech Connect

    Desai, Nishita; Mukhopadhyaya, Biswarup

    2009-09-01

    We investigate the signals of supersymmetry in a scenario where only the third family squarks and sleptons can be produced at the Large Hadron Collider, in addition to the gluino, charginos, and neutralinos. The final states in such cases are marked by a multiplicity of top or bottom quarks. We study, in particular, the case when the top squark, bottom squark, and gluino masses are near the TeV scale due to which, the final state t's and b's are very energetic. We point out the difficulty in b tagging and identifying energetic tops and suggest several event selection criteria which allow the signals to remain significantly above the standard model background. We show that such scenarios with gluino mass up to 2 TeV can be successfully probed at the Large Hadron Collider. Information on tan{beta} can also be obtained by looking at associated Higgs production in the cascades of accompanying neutralinos. We also show that a combined analysis of event rates in the different channels and the effective mass distribution allows one to differentiate this scenario from the one where all three sfermion families are accessible.

  1. Prosody Intervention: A Single Subject Study of a Swedish Boy with Prosodic Problems

    ERIC Educational Resources Information Center

    Samuelsson, Christina

    2011-01-01

    Swedish has a complicated prosodic system, compared, for example, with English. A large proportion of Swedish children with language impairment (LI) have prosodic problems to some extent. There are few descriptions in the literature of prosody intervention, which means that clinicians must rely on their overall linguistic and therapeutic knowledge…

  2. The Swedish duty hour enigma

    PubMed Central

    2014-01-01

    Background The Swedish resident duty hour limit is regulated by Swedish and European legal frameworks. With a maximum average of 40 working hours per week, the Swedish duty hour regulation is one of the most restrictive in the world. At the same time, the effects of resident duty hour limits have been neither debated nor researched in the Swedish context. As a result, little is known about the Swedish conceptual framework for resident duty hours, their restriction, or their outcomes: we call this “the Swedish duty hour enigma.” This situation poses a further question: How do Swedish residents themselves construct a conceptual framework for duty hour restrictions? Methods A case study was conducted at Karolinska University Hospital, Stockholm – an urban, research-intensive hospital setting. Semi-structured interviews were carried out with 34 residents currently in training in 6 specialties. The empirical data analysis relied on theoretical propositions and was conducted thematically using a pattern-matching technique. The interview guide was based on four main topics: the perceived effect of duty hour restrictions on (1) patient care, (2) resident education, (3) resident well-being, and (4) research. Results The residents did not perceive the volume of duty hours to be the main determinant of success or failure in the four contextual domains of patient care, resident education, resident well-being, and research. Instead, they emphasized resident well-being and a desire for flexibility. Conclusions According to Swedish residents’ conceptual framework on duty hours, the amount of time spent on duty is not a proxy for the quality of resident training. Instead, flexibility, organization, and scheduling of duty hours are considered to be the factors that have the greatest influence on resident well-being, quality of learning, and opportunities to attain the competence needed for independent practice. PMID:25559074

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

    PubMed Central

    2013-01-01

    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 at the Δ12 position

  4. Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants

    PubMed Central

    Li, Xin; Battle, Alexis; Karczewski, Konrad J.; Zappala, Zach; Knowles, David A.; Smith, Kevin S.; Kukurba, Kim R.; Wu, Eric; Simon, Noah; Montgomery, Stephen B.

    2014-01-01

    Recent and rapid human population growth has led to an excess of rare genetic variants that are expected to contribute to an individual’s genetic burden of disease risk. To date, much of the focus has been on rare protein-coding variants, for which potential impact can be estimated from the genetic code, but determining the impact of rare noncoding variants has been more challenging. To improve our understanding of such variants, we combined high-quality genome sequencing and RNA sequencing data from a 17-individual, three-generation family to contrast expression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs) within this family to eQTLs and sQTLs within a population sample. Using this design, we found that eQTLs and sQTLs with large effects in the family were enriched with rare regulatory and splicing variants (minor allele frequency < 0.01). They were also more likely to influence essential genes and genes involved in complex disease. In addition, we tested the capacity of diverse noncoding annotation to predict the impact of rare noncoding variants. We found that distance to the transcription start site, evolutionary constraint, and epigenetic annotation were considerably more informative for predicting the impact of rare variants than for predicting the impact of common variants. These results highlight that rare noncoding variants are important contributors to individual gene-expression profiles and further demonstrate a significant capability for genomic annotation to predict the impact of rare noncoding variants. PMID:25192044

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

    PubMed

    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.

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

    PubMed

    Bringaud, Frédéric; Müller, Michaela; Cerqueira, Gustavo Coutinho; Smith, Martin; Rochette, Annie; El-Sayed, Najib M A; Papadopoulou, Barbara; Ghedin, Elodie

    2007-09-01

    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.

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

    PubMed

    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.

  8. Functional divergence of the glutathione S-transferase supergene family in Physcomitrella patens reveals complex patterns of large gene family evolution in land plants.

    PubMed

    Liu, Yan-Jing; Han, Xue-Min; Ren, Lin-Ling; Yang, Hai-Ling; Zeng, Qing-Yin

    2013-02-01

    Plant glutathione S-transferases (GSTs) are multifunctional proteins encoded by a large gene family that play major roles in the detoxification of xenobiotics and oxidative stress metabolism. To date, studies on the GST gene family have focused mainly on vascular plants (particularly agricultural plants). In contrast, little information is available on the molecular characteristics of this large gene family in nonvascular plants. In addition, the evolutionary patterns of this family in land plants remain unclear. In this study, we identified 37 GST genes from the whole genome of the moss Physcomitrella patens, a nonvascular representative of early land plants. The 37 P. patens GSTs were divided into 10 classes, including two new classes (hemerythrin and iota). However, no tau GSTs were identified, which represent the largest class among vascular plants. P. patens GST gene family members showed extensive functional divergence in their gene structures, gene expression responses to abiotic stressors, enzymatic characteristics, and the subcellular locations of the encoded proteins. A joint phylogenetic analysis of GSTs from P. patens and other higher vascular plants showed that different class GSTs had distinct duplication patterns during the evolution of land plants. By examining multiple characteristics, this study revealed complex patterns of evolutionary divergence among the GST gene family in land plants.

  9. Family Strengthening Writ Large: On becoming a Nation that Promotes Strong Families and Successful Youth. Policy Brief No. 24

    ERIC Educational Resources Information Center

    Online Submission, 2007

    2007-01-01

    Culture and systemic change are paramount to achieving significant and long-lasting gains in child and youth wellbeing and, in time, securing the future of our nation. This brief, based on a high-level synthesis of eight years of experience and research in place-based family strengthening, makes the case for a national transformation to a society…

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

    PubMed Central

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

    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 adapted for the Chinese population. Differences between the groups were tested for significance by the Student’s t-test; ANOVA was used to test continuous variables. The relationship between soft family environmental factors and BDI were tested by Pearson correlation analysis. Hierarchical linear regression analysis was conducted to model the effects of hard environmental factors and soft environmental factors on depression in university students. Results A total of 11.8% of students scored above the threshold of moderate depression(BDI≧14). Hard family environmental factors such as parent relationship, family economic status, level of parental literacy and non-intact family structure were associated with depressive symptoms. The soft family environmental factors—conflict and control—were positively associated with depression, while cohesion was negatively related to depressive symptom after controlling for other important associates of depression. Hierarchical regression analysis indicated that the soft family environment correlates more strongly with depression than the hard family environment. Conclusions Soft family environmental factors—especially cohesion, conflict and control—appeared to play an important role in the occurrence of depressive symptoms. These findings underline the significance of the family environment as a source of risk factors for depression among university students in China and suggest that family-based interventions and improvement are very

  11. Health and safety strategy in Swedish agriculture.

    PubMed

    Lundqvist, Peter; Svennefelt, Catharina Alwall

    2012-01-01

    In Sweden there is a joint focus on injury prevention in agriculture and this is coordinated through the Swedish Committee on Working Environment (LAMK). LAMK is a network working for a good, healthy and safe working environment in Swedish agriculture from the view of the enterprise with the humans in focus. It is a committee consisting of representatives of authorities, institutions, companies, research & education institutions and organisations referring to the green sector. Examples of on-going initiatives & partners are presented which are included in this mission against injuries in agriculture. It involves the Swedish Work Environment Authority,, the Federation of Swedish Farmers (LRF), the Swedish Institute of Agricultural and Environmental Engineering, Swedish University of Agricultural Sciences (SLU, the Federation of Swedish Forestry and Agricultural Employers (SLA) and the Swedish Municipal Worker's Union. PMID:22317540

  12. Love and sex in the Swedish media.

    PubMed

    Boethius, C G

    1986-01-01

    Attitudes toward teenage sexuality are markedly different in Sweden and the US. The more accepting attitude toward adolescent sexuality and the greater availability of family planning information and services may explain why Sweden has a lower adolescent pregnancy, abortion, and childbirth rate than the US. In contrast to the situation in the US, the Swedish mass media presents a realistic view of sexuality to the youth of the nation. It stresses the responsible use of contraception and the need to protect against sexually transmitted diseases in both its entertainment and educational shows. No commercials are aired on Swedish TV; therefore, Swedish youth are not exposed to the blatant and irresponsible image of sex frequently conveyed by commercials in the US. Moreover, in Sweden, parents accept the fact that their older teenagers will engage in sexual activity and help their children prepare for this activity. As a result, teenagers are reassured that their parents understand their feelings and emotions. These teenagers, in turn, are likely to accept their parents' advice about engaging in responsible sexual behavior. In contrast, in societies like the US, which are nonaccepting of adolescent sexual behavior, teenagers are likely to feel their parents and the larger society do not understand their feelings. These teenagers are likely to reject parental or societal advice on sexual matters. Sweden's accepting attitude toward adolescent sexuality is relatively recent. Prior to the 1960s, attitudes in Sweden were similar to those of present day American society. Eventually the government, the schools, and the parents recognized that they were creating a breach between the generations, and they gradually adopted a more realistic and accepting stance on sexual matters. By 1970, all Swedish children were receiving sex education in school. Television programing in sex education began in the 1960s. The broad distribution of printed sex education materials also began in

  13. Love and sex in the Swedish media.

    PubMed

    Boethius, C G

    1986-01-01

    Attitudes toward teenage sexuality are markedly different in Sweden and the US. The more accepting attitude toward adolescent sexuality and the greater availability of family planning information and services may explain why Sweden has a lower adolescent pregnancy, abortion, and childbirth rate than the US. In contrast to the situation in the US, the Swedish mass media presents a realistic view of sexuality to the youth of the nation. It stresses the responsible use of contraception and the need to protect against sexually transmitted diseases in both its entertainment and educational shows. No commercials are aired on Swedish TV; therefore, Swedish youth are not exposed to the blatant and irresponsible image of sex frequently conveyed by commercials in the US. Moreover, in Sweden, parents accept the fact that their older teenagers will engage in sexual activity and help their children prepare for this activity. As a result, teenagers are reassured that their parents understand their feelings and emotions. These teenagers, in turn, are likely to accept their parents' advice about engaging in responsible sexual behavior. In contrast, in societies like the US, which are nonaccepting of adolescent sexual behavior, teenagers are likely to feel their parents and the larger society do not understand their feelings. These teenagers are likely to reject parental or societal advice on sexual matters. Sweden's accepting attitude toward adolescent sexuality is relatively recent. Prior to the 1960s, attitudes in Sweden were similar to those of present day American society. Eventually the government, the schools, and the parents recognized that they were creating a breach between the generations, and they gradually adopted a more realistic and accepting stance on sexual matters. By 1970, all Swedish children were receiving sex education in school. Television programing in sex education began in the 1960s. The broad distribution of printed sex education materials also began in

  14. Work environment and production development in Swedish manufacturing industry.

    PubMed

    Johansson, Bo

    2010-01-01

    Swedish manufacturing industry has previous held a leading position regarding the development of attractive industrial work environments, but increasing market competition has changed the possibilities to maintain the position. The purpose of this literature study is therefore to describe and analyze how Swedish manufacturing industry manages work environment and production development in the new millennium. The description and analysis is based on recently reported Swedish research and development. The gathered picture of how production systems generally are developed in Sweden strongly contrasts against the idealized theoretical and legal view of how production systems should be developed. Even if some of the researchers' and authorities' ambitions and demands may seem unrealistically high today, there still is a very large potential for improving the processes and tools for designing production systems and work environment. PMID:20828493

  15. Work environment and production development in Swedish manufacturing industry.

    PubMed

    Johansson, Bo

    2010-01-01

    Swedish manufacturing industry has previous held a leading position regarding the development of attractive industrial work environments, but increasing market competition has changed the possibilities to maintain the position. The purpose of this literature study is therefore to describe and analyze how Swedish manufacturing industry manages work environment and production development in the new millennium. The description and analysis is based on recently reported Swedish research and development. The gathered picture of how production systems generally are developed in Sweden strongly contrasts against the idealized theoretical and legal view of how production systems should be developed. Even if some of the researchers' and authorities' ambitions and demands may seem unrealistically high today, there still is a very large potential for improving the processes and tools for designing production systems and work environment.

  16. Family.

    ERIC Educational Resources Information Center

    Hurst, Hunter, Ed.; And Others

    1985-01-01

    This document contains the fourth volume of "Today's Delinquent," an annual publication of the National Center for Juvenile Justice. This volume deals with the issue of the family and delinquency. "The Family and Delinquency" (LaMar T. Empey) systematically reviews and weighs the evidence to support prominent theories on the origins of…

  17. Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families.

    PubMed

    Kang, Peter; Mariapun, Shivaani; Phuah, Sze Yee; Lim, Linda Shushan; Liu, Jianjun; Yoon, Sook-Yee; Thong, Meow Keong; Mohd Taib, Nur Aishah; Yip, Cheng Har; Teo, Soo-Hwang

    2010-11-01

    Early studies of genetic predisposition due to the BRCA1 and BRCA2 genes have focused largely on sequence alterations, but it has now emerged that 4-28% of inherited mutations in the BRCA genes may be due to large genomic rearrangements of these genes. However, to date, there have been relatively few studies of large genomic rearrangements in Asian populations. We have conducted a full sequencing and large genomic rearrangement analysis (using Multiplex Ligation-dependent Probe Amplification, MLPA) of 324 breast cancer patients who were selected from a multi-ethnic hospital-based cohort on the basis of age of onset of breast cancer and/or family history. Three unrelated individuals were found to have large genomic rearrangements: 2 in BRCA1 and 1 in BRCA2, which accounts for 2/24 (8%) of the total mutations detected in BRCA1 and 1/23 (4%) of the mutations in BRCA2 detected in this cohort. Notably, the family history of the individuals with these mutations is largely unremarkable suggesting that family history alone is a poor predictor of mutation status in Asian families. In conclusion, this study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2. PMID:20617377

  18. Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families.

    PubMed

    Kang, Peter; Mariapun, Shivaani; Phuah, Sze Yee; Lim, Linda Shushan; Liu, Jianjun; Yoon, Sook-Yee; Thong, Meow Keong; Mohd Taib, Nur Aishah; Yip, Cheng Har; Teo, Soo-Hwang

    2010-11-01

    Early studies of genetic predisposition due to the BRCA1 and BRCA2 genes have focused largely on sequence alterations, but it has now emerged that 4-28% of inherited mutations in the BRCA genes may be due to large genomic rearrangements of these genes. However, to date, there have been relatively few studies of large genomic rearrangements in Asian populations. We have conducted a full sequencing and large genomic rearrangement analysis (using Multiplex Ligation-dependent Probe Amplification, MLPA) of 324 breast cancer patients who were selected from a multi-ethnic hospital-based cohort on the basis of age of onset of breast cancer and/or family history. Three unrelated individuals were found to have large genomic rearrangements: 2 in BRCA1 and 1 in BRCA2, which accounts for 2/24 (8%) of the total mutations detected in BRCA1 and 1/23 (4%) of the mutations in BRCA2 detected in this cohort. Notably, the family history of the individuals with these mutations is largely unremarkable suggesting that family history alone is a poor predictor of mutation status in Asian families. In conclusion, this study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2.

  19. Immigrant Children's Swedish--A New Variety?

    ERIC Educational Resources Information Center

    Kotsinas, Ulla-Britt

    1988-01-01

    Posits two hypotheses arising from the great immigration to Sweden and the immigrants' use and learning of Swedish: (1) Swedish as used by immigrant children may show certain features, related to a creolization process; and (2) the Swedish language may in future show signs of influence from the varieties used by persons with immigrant background.…

  20. From new genetics to everyday knowledge: Ideas about how genetic diseases are transmitted in two large Brazilian families

    NASA Astrophysics Data System (ADS)

    Santos, Silvana; Bizzo, Nelio

    2005-07-01

    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 with a neurodegenerative disorder, SPOAN syndrome (spastic paraplegia, optic atrophy and neuropathy), and 40 individuals of another family living with neurofibromatosis type 1 (NF1). The results indicate that families here studied have built narratives to explain the origin of genetic diseases, saying that an ancestor infected with syphilis gave rise to disorders and birthmarks transmitted to descendents.

  1. The Swedish Schools Inspectorate's View of Swedish Schools

    ERIC Educational Resources Information Center

    Lindström, Lisbeth; Perdahl, Solange

    2014-01-01

    The purpose of this article is to shed some light on and give some examples of how the Swedish schools have interpreted their mission of educating young people and preparing them for the role of active citizens. More specifically, we are interested in how the "good" or "aspirational" school is presented in the reports published…

  2. Complete complement deficiency in a large cohort of familial systemic lupus erythematosus

    PubMed Central

    Aggarwal, Rachna; Sestak, Andrea L; Souza, Anil D’; Dillon, Skyler P.; Namjou, Bahram; Scofield, R Hal

    2010-01-01

    Genetic complete deficiency of the early complement components such as C1, C2 and C4 commonly results in a monogenetic form of systemic lupus erythematosus (SLE). However, previous studies have examined groups of complete complement deficient subjects for SLE, while a familial SLE cohort has not been studied for deficiencies of complement. Thus, we undertook the present study to determine the frequency of hereditary complete complement deficiencies among families with two or more SLE patients. All SLE patients from 544 such families had CH50 determined. Medical records were examined for past CH50 values. There were 66 individuals in whom all available CH50 values were zero. All but four of these had an SLE-affected relative with a non-zero CH50; thus, these families did not have monogenic complement deficient related SLE. The four remaining SLE-affected subjects were in fact two sets of siblings in which 3 of the 4 SLE patients had onset of disease at <18 years of age. Both patients in one of these families had been determined to have C4 deficiency, while the other family had no clinical diagnosis of complement deficiency. In this second family, one of the SLE patients had had normal C4 and C3 values, indicating that either C1q or C2 deficiency was possible. Thus, only 2 of 544 SLE families had definite or possible complement deficiency; however, 1 of 7 families in which all SLE patients had pediatric onset and 2 of 85 families with at least 1 pediatric-onset SLE patent had complete complement deficiency. SLE is found commonly among families with hereditary complement deficiency but the reverse is not true. Complete complement deficiency is rare among families with two or more SLE patients, but is concentrated among families with onset of SLE prior to age 18. PMID:19910391

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

    PubMed

    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.

  4. Revisiting Myosin Families Through Large-scale Sequence Searches Leads to the Discovery of New Myosins

    PubMed Central

    Pasha, Shaik Naseer; Meenakshi, Iyer; Sowdhamini, Ramanathan

    2016-01-01

    Myosins are actin-based motor proteins involved in many cellular movements. It is interesting to study the evolutionary patterns and the functional attributes of various types of myosins. Computational search algorithms were performed to identify putative myosin members by phylogenetic analysis, sequence motifs, and coexisting domains. This study is aimed at understanding the distribution and the likely biological functions of myosins encoded in various taxa and available eukaryotic genomes. We report here a phylogenetic analysis of around 4,064 myosin motor domains, built entirely from complete or near-complete myosin repertoires incorporating many unclassified, uncharacterized sequences and new myosin classes, with emphasis on myosins from Fungi, Haptophyta, and other Stramenopiles, Alveolates, and Rhizaria (SAR). The identification of large classes of myosins in Oomycetes, Cellular slime molds, Choanoflagellates, Pelagophytes, Eustigmatophyceae, Fonticula, Eucoccidiorida, and Apicomplexans with novel myosin motif variants that are conserved and thus presumably functional extends our knowledge of this important family of motor proteins. This work provides insights into the distribution and probable function of myosins including newly identified myosin classes.

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

    PubMed

    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.

  6. Wiskott–Aldrich syndrome: review and report of a large family

    PubMed Central

    Stiehm, E. R.; McIntosh, R. M.

    1967-01-01

    Wiskott–Aldrich syndrome is a sex-linked recessive antibody-deficiency syndrome characterized by thrombocytopenia, eczema and increased susceptibility to infection. All forms of therapy are notably unsuccessful and these patients succumb in the first decade. Three cases of this syndrome are presented from a large family in which nine male infants have succumbed with manifestations of this disease. Two of the infants died at ages 10 months and 4 years respectively. A third child is alive at age 2. Serial quantitative immune globulin studies performed in two cases demonstrated markedly elevated γA, decreased γM and normal γG; levels of γM were initially normal but fell progressively as γA levels increased. The low levels of γM are probably a factor in their low or absent isoagglutinins, poor response to injected antigens, and increased susceptibility to infection; elevated γA levels may indicate immunologic unresponsiveness and/or a compensatory mechanism for the defect in γM synthesis. In two of these patients prolonged trials (17 and 23 months) of periodic plasma infusions (15 ml/kg at 6-week intervals), accompanied by γ-globulin injections (0·1 ml/kg) were undertaken. Although no remarkable effects on the platelets or their resistance to infection was noted, we feel that some benefit might have accrued and that further trails are indicated. PMID:4166240

  7. Revisiting Myosin Families Through Large-scale Sequence Searches Leads to the Discovery of New Myosins

    PubMed Central

    Pasha, Shaik Naseer; Meenakshi, Iyer; Sowdhamini, Ramanathan

    2016-01-01

    Myosins are actin-based motor proteins involved in many cellular movements. It is interesting to study the evolutionary patterns and the functional attributes of various types of myosins. Computational search algorithms were performed to identify putative myosin members by phylogenetic analysis, sequence motifs, and coexisting domains. This study is aimed at understanding the distribution and the likely biological functions of myosins encoded in various taxa and available eukaryotic genomes. We report here a phylogenetic analysis of around 4,064 myosin motor domains, built entirely from complete or near-complete myosin repertoires incorporating many unclassified, uncharacterized sequences and new myosin classes, with emphasis on myosins from Fungi, Haptophyta, and other Stramenopiles, Alveolates, and Rhizaria (SAR). The identification of large classes of myosins in Oomycetes, Cellular slime molds, Choanoflagellates, Pelagophytes, Eustigmatophyceae, Fonticula, Eucoccidiorida, and Apicomplexans with novel myosin motif variants that are conserved and thus presumably functional extends our knowledge of this important family of motor proteins. This work provides insights into the distribution and probable function of myosins including newly identified myosin classes. PMID:27597808

  8. Revisiting Myosin Families Through Large-scale Sequence Searches Leads to the Discovery of New Myosins.

    PubMed

    Pasha, Shaik Naseer; Meenakshi, Iyer; Sowdhamini, Ramanathan

    2016-01-01

    Myosins are actin-based motor proteins involved in many cellular movements. It is interesting to study the evolutionary patterns and the functional attributes of various types of myosins. Computational search algorithms were performed to identify putative myosin members by phylogenetic analysis, sequence motifs, and coexisting domains. This study is aimed at understanding the distribution and the likely biological functions of myosins encoded in various taxa and available eukaryotic genomes. We report here a phylogenetic analysis of around 4,064 myosin motor domains, built entirely from complete or near-complete myosin repertoires incorporating many unclassified, uncharacterized sequences and new myosin classes, with emphasis on myosins from Fungi, Haptophyta, and other Stramenopiles, Alveolates, and Rhizaria (SAR). The identification of large classes of myosins in Oomycetes, Cellular slime molds, Choanoflagellates, Pelagophytes, Eustigmatophyceae, Fonticula, Eucoccidiorida, and Apicomplexans with novel myosin motif variants that are conserved and thus presumably functional extends our knowledge of this important family of motor proteins. This work provides insights into the distribution and probable function of myosins including newly identified myosin classes. PMID:27597808

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

    PubMed

    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.

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

    PubMed

    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.

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

    PubMed

    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.

  12. New Swedish Cultural Environment Protection.

    ERIC Educational Resources Information Center

    Ministry of Education and Cultural Affairs, Stockholm (Sweden).

    Current Swedish cultural policy was laid down in 1974. It was decided that one of the aims of that policy must be to ensure that earlier periods of history would be preserved and brought to life. The Government Bill (Prop. 1987/88:104) on protection of the cultural environment is concerned with helping the general public understand that cultural…

  13. Toddlers' Life in Swedish Preschool

    ERIC Educational Resources Information Center

    Johansson, Eva; Emilson, Anette

    2010-01-01

    The purpose of this article is to point to some patterns dealt with in Swedish research with 1 to 3-year-old children in preschool. The analyses focus on questions posed, theoretical perspectives, methods and results. The results give a unique picture of how toddlers participate, interact and communicate while engaged in how to master various…

  14. Successful Principalship: The Swedish Case

    ERIC Educational Resources Information Center

    Hoog, Jonas; Johansson, Olof; Olofsson, Anders

    2005-01-01

    Purpose: This paper seeks to describe the Swedish compulsory school system and explore a hypothesis about the relationship between structure, culture and leadership as preconditions for successful principalship. Design/methodology/approach: On the basis of earlier research, argues that a principal's success depends on how he or she alters school…

  15. Swedish discovery: magnetic fines recovery

    SciTech Connect

    Hervol, J.D.

    1984-07-01

    A Swedish device, the Magnadisc, which recovers magnetite fines normally lost in tailings is described. The system was developed in the 1970s, but has reached the US only recently. Tests carried out by EPRI are reported and the results are presented. These indicate that the machine can recover a significant percentage of magnetite currently discharged in the tailings from magnetic drum separators.

  16. Familial pheochromocytoma, hypercalcemia, and von Hippel-Lindau disease. A ten year study of a large family.

    PubMed

    Atuk, N O; McDonald, T; Wood, T; Carpenter, J T; Walzak, M P; Donaldson, M; Gillenwater, J Y

    1979-05-01

    Long-term epidemiological and laboratory studies were carried out in a kindred with familial pheochromocytoma associated with von Hippel-Lindau disease. Thirteen members were affected by the syndrome and the trait appears to be transmitted in an autosomal dominant fashion. Of 13 patients, 7 had pheochromocytoma alone. Of the remaining six patients, one had pheochromocytoma combined with von Hippel-Lindau disease, four had pheochromocytoma with retinal disease only, and a single patient had a retinal lesion without pheochromocytoma. In four patients, pheochromocytoma antedated the development of retinal lesions. Ten members also had mild hypercalcemia without accompanying elevations of PTH in the 4 patients in whom this was determined. In all, hypercalcemia was corrected with removal of tumors, and no patient had a return of hypercalcemia in the absence of recurrent increases in urinary catecholamines. The clinical presentations in 12 patients varied markedly, as did their urinary excretion rates of norepinephrine, epinephrine and their metabolites. However, an analysis of the data revealed significant correlations not previously described between the urinary excretion of free catecholamines (norepinephrine plus epinephrine), blood pressure, the free catecholamine content of the tumor and the age of the patient. Urinary excretion of free norepinephrine plus epinephrine appear to be decreased with advancing age (p less than 0.001). Both systolic and diastolic blood pressures and the age of the patient were inversely correlated (p less than 0.01). A significant inverse relationship between the tumor content of free catecholamines and the age of the patients was, although to a lesser degree, also present (p less than 0.05). As a whole, the size of the tumors and their norepinephrine content were not correlated. We present a concept that, in familial pheochromocytoma, the metabolism of catecholamines is altered by the process of aging, and that this change modifies the

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

    PubMed Central

    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

  18. Overexpression of Swedish mutant APP in aged astrocytes attenuates excitatory synaptic transmission.

    PubMed

    Katsurabayashi, Shutaro; Kawano, Hiroyuki; Ii, Miyuki; Nakano, Sachiko; Tatsumi, Chihiro; Kubota, Kaori; Takasaki, Kotaro; Mishima, Kenichi; Fujiwara, Michihiro; Iwasaki, Katsunori

    2016-01-01

    Amyloid precursor protein (APP), a type I transmembrane protein, has different aspects, namely, performs essential physiological functions and produces β-amyloid peptide (Aβ). Overexpression of neuronal APP is responsible for synaptic dysfunction. In the central nervous system, astrocytes - a major glial cell type - have an important role in the regulation of synaptic transmission. Although APP is expressed in astrocytes, it remains unclear whether astrocytic overexpression of mutant APP affects synaptic transmission. In this study, the effect of astrocytic overexpression of a mutant APP on the excitatory synaptic transmission was investigated using coculture system of the transgenic (Tg) cortical astrocytes that express the human APP695 polypeptide with the double mutation K670N + M671L found in a large Swedish family with early onset Alzheimer's disease, and wild-type hippocampal neuron. Significant secretion of Aβ 1-40 and 1-42 was observed in cultured cortical astrocytes from the Tg2576 transgenic mouse that genetically overexpresses Swedish mutant APP. Under the condition, Tg astrocytes did not affect excitatory synaptic transmission of cocultured wild-type neurons. However, aged Tg astrocytes cultured for 9 weeks elicited a significant decrease in excitatory synaptic transmission in cocultured neurons. Moreover, a reduction in the number of readily releasable synaptic vesicles accompanied a decrease in the number of excitatory synapses in neurons cocultured with aged Tg astrocytes. These observations indicate that astrocytic expression of the mutant APP is involved in the downregulation of synaptic transmission with age. PMID:26733247

  19. Characterization of the p16 gene in the mouse: Evidence for a large gene family

    SciTech Connect

    Fountain, J.W.; Giendening, J.M.; Flores, J.F.

    1994-09-01

    The p16 gene product is an inhibitor of the cyclin-dependent kinase 4 (CDK4)/cyclin D complex. When uninhibited, the CDK4/cyclin D complex participates in the phosphorylation of the retinoblastoma (RB) protein and renders it inactive. Upon inactivation of the RB protein, transition from the G{sub 1} to the S phase of mitosis occurs and results in cellular proliferation. Thus, p16 is presumed to act as a negative regulator of cell growth by preventing the phosphorylation, and thereby subsequent inactivation, of RB by CDK4/cyclin D. Recently, the p16 gene (also known as the multiple tumor suppressor 1 (MTS1) gene) has been mapped to chromosome 9p21 and found to be deleted or mutated in a number of tumor cell lines. These findings support the role of p16 as a growth inhibitor or tumor suppressor gene and suggest that the mutation of this gene may have global implications in carcinogenesis. We have chosen to test the functional significance of p16 mutations in vivo through the generation of a mouse mutant for p16. In preparation for this undertaking, eight apparently independent (as judged by restriction enzyme digestion and differential hybridization) mouse genomic embryonic stem cell clones have been identified using exon 2 from the human p16 gene as a probe. The identification of these multiple nonoverlapping clones was not entirely surprising since the reduced stringency hybridization of a zoo blot with the same probe also revealed 10-15 positive EcoRI fragments in all species tested, including human, monkey, cow, dog, cat, rabbit, hamster, mouse, chicken and D. melanogaster. Taken together, these findings suggest that the p16 gene is a member of a large gene family. The location of these genomic clones, as well as their potential expression in the mouse, is currently under investigation.

  20. The Swedish Allsky Meteor Network: first results

    NASA Astrophysics Data System (ADS)

    Stempels, E.; Kero, E.

    2016-01-01

    The Swedish Allsky Meteor Network started operations with two cameras in early 2014 and has since grown steadily. Currently, seven stations are active and several more will come online in the near future. The network to a large degree relies on low-cost stations run by private individuals or small societies of amateur astronomers. Originally based on the Danish meteor network Stjerneskud, the central node of Uppsala University provides the network with the necessary infrastructure, such as a continually updated software distribution and automatic processing of data from all stations. Although covering a very large land mass with relatively low resources is challenging, there have up to now been several well-observed events, often in collaboration with observations from neighboring countries. We give a short overview of the network's current status, chosen technical solutions, and some results.

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

    ERIC Educational Resources Information Center

    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…

  2. Febrile convulsions in selected large families: a single-major-locus mode of inheritance?

    PubMed

    Maher, J; McLachlan, R S

    1997-02-01

    As part of a genetic linkage study of febrile convulsions, families with at least four members with the disorder were identified. By applying known principles of human inheritance, possible modes of transmission of febrile convulsions and factors which might impede progress in understanding their inheritance were analyzed. In eight families, 75 of 333 members had febrile convulsions. Inheritance of the disorder occurred in 43, 51, and 46% of children, siblings and all first-degree relatives of probands respectively. Vertical transmission occurred through three to four generations, including from male to male. In these families with multiple affected members, the findings support an autosomal dominant mode of inheritance of febrile convulsions.

  3. Achieving patient and family engagement through the implementation and evolution of advisory councils across a large health care system.

    PubMed

    Haycock, Camille; Wahl, Carol

    2013-01-01

    Over the past decade, hospitals and health care systems have responded to the call for increased patient engagement and person-centered care. Organizations across the country have developed models and tools to assist in the effort toward patient and family engagement in health care delivery. In addition, current literature and trends suggest that patient satisfaction and quality outcomes are improved when patients and families become partners in their own health care and the delivery of that care. However, to formalize a patient-centric structure and process across a large health care system that is aimed at patient and family engagement can be a daunting activity. Utilizing well-established tools, Catholic Health Initiatives was successful in implementing the structures to deploy the ideas of patients and families in multiple facilities and care settings across 19 states. Nursing leaderships, in partnership with patients and their families within this health care delivery system, were the key contributors to the implementation of formalized patient and family advisory councils in hospitals across the enterprise. PMID:23744470

  4. The impact of children on divorce risks of Swedish women.

    PubMed

    Andersson, G

    1997-06-01

    "The purpose of this paper is to study the impact of children on divorce risks in 1971-1994 for first-married Swedish women. This impact is examined using two measures of family composition, namely the number of children and the age of the youngest child, and we find an independent effect from each of these factors on the propensity to divorce. There is an additional impact of births prior to marriage on the subsequent divorce risk.... The general picture of Swedish divorce-risk trends shows a strong increase in 1974, mostly among childless women, in response to a reform of the divorce legislation. Since the beginning of the 1980s, the risks have increased steadily, mostly among mothers." (EXCERPT)

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

    PubMed Central

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

    2016-01-01

    These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR) functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, “Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study” (Raal et al., 2016) [1]. PMID:27182539

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

    PubMed Central

    Cevik, Betul; Aksoy, Durdane; Sahbaz, E. Irmak; Basak, A. Nazli

    2016-01-01

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

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

    PubMed

    Kurt, Semiha; Cevik, Betul; Aksoy, Durdane; Sahbaz, E Irmak; Gundogdu Eken, Aslı; Basak, A Nazli

    2016-01-01

    Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling. PMID:27668106

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

    PubMed Central

    Cevik, Betul; Aksoy, Durdane; Sahbaz, E. Irmak; Basak, A. Nazli

    2016-01-01

    Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling. PMID:27668106

  9. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.

    PubMed

    Grewal, Prabhjit K; McLaughlan, Jennifer M; Moore, Christopher J; Browning, Claudia A; Hewitt, Jane E

    2005-10-01

    The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gene Large. Mutations in the human homolog (LARGE) have been described in a form of congenital muscular dystrophy (MDC1D). Other genes (POMT1, POMGnT1, fukutin, and FKRP) that encode known or putative glycosylation enzymes are also causally associated with human congenital muscular dystrophies. All these diseases are associated with hypoglycosylation of the membrane protein alpha-dystroglycan (alpha-DG) and consequent loss of extracellular ligand binding. Hence, they are termed dystroglycanopathies. A paralogous gene for LARGE (LARGE2 or GYLTL1B) may also have a role in DG glycosylation. Using database interrogation and reverse-transcriptase polymerase chain reaction (RT-PCR), we identified vertebrate orthologs of each of these LARGE genes in many vertebrates, including human, mouse, dog, chicken, zebrafish, and pufferfish. However, within invertebrate genomes, we were able to identify only single homologs. We suggest that vertebrate LARGE orthologs be referred to as LARGE1. RT-PCR, dot-blot, and northern analysis indicated that LARGE2 has a more restricted tissue-expression profile than LARGE1. Using epitope-tagged proteins, we show that both LARGE1 and LARGE2 localize to the Golgi apparatus. The high similarity between the LARGE paralogs suggests that LARGE2 may also act on DG. Overexpression of LARGE2 in mouse C2C12 myoblasts results in increased glycosylation of alpha-DG accompanied by an increase in laminin binding. Thus, there may be functional redundancy between LARGE1 and LARGE2. Consistent with this idea, we show that alpha-DG is still fully glycosylated in kidney (a tissue that expresses a high level of LARGE2 mRNA) of Large(myd) mutant mice. PMID:15958417

  10. On the genetics of mandibular prognathism: analysis of large European noble families.

    PubMed Central

    Wolff, G; Wienker, T F; Sander, H

    1993-01-01

    Mandibular prognathism is assumed to be a polygenic trait in the vast majority of cases. In a few families, this phenotype and perhaps a syndrome with a broader spectrum of facial anomalies seems to be determined by a single dominant gene of very low frequency (McKusick No *176700). The phenotype is known to have occurred independently in several European noble families. We constructed a pedigree comprising 13 of these families with 409 members in 23 generations in which mandibular prognathism has been segregating. Obviously, the presumed dominant gene is not fully penetrant in the heterozygous state. Pedigree analysis using the Elston-Stewart algorithm yields a maximum likelihood estimate (MLE) of p = 0.955 (SE 0.038) of the penetrance parameter. Images PMID:8445614

  11. IHF study tour: a lesson in Swedish.

    PubMed

    Hands, D

    1980-08-01

    The International Health Federation paid its first visit to Sweden in June. The study tour, which involved 35 people from 15 countries, spent ten days studying Swedish health care with the particular brief--'Co-ordinating health services within a region". Here David Hands, assistant director, Kings Fund Centre, describes the tour which was organised by the Swedish Hospital Association and the Swedish Planning and Rationalisation Institute in conjunction with the National Board for Health and Welfare, and the Federation of Swedish County Councils.

  12. Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons

    PubMed Central

    Pages, S; Caux, V; Stoppa-Lyonnet, D; Tosi, M

    2001-01-01

    41 breast cancer or breast-ovarian cancer families, including 12 families with at least one affected first-degree male relative, were screened for mutations in the BRCA2 gene. Mutations had not been found in the BRCA1 gene of these families. Chemical cleavage of Mismatch was used to identify nucleotide changes within large PCR products (average size 1.2 kb) that carried strand-specific fluorescent end-labels. 15 amplicons were sufficient to scan 18 exons, including the large exon 11. The remaining 9 small exons were examined by Denaturing Gradient Gel Electrophoresis. The high sensitivity of this approach was documented by the detection, in these 41 patients, of all 9 exonic single nucleotide polymorphisms reported with heterozygosity >0.1. Truncating BRCA2 mutations were found in 7 of the 41 families. 3 of them were in the group of 12 families comprising cases of male breast cancer. Since the methods used here have no bias for particular types of mutations, these data confirm the high proportion of frameshifts among mutations in BRCA2. However, relevant single nucleotide substitutions were also found: one resulting in a stop codon and another one, present in a male patient, was the previously reported change Asp2723His, that affects a highly conserved region of the BRCA2 protein. This study indicates a BRCA2 contribution of 10% (95% CI 2.5–17.5) to our original cohort of 59 breast-ovarian cancer families, whereas the contribution of BRCA1 had been estimated at 46% (95% CI 33–59). © 2001 Cancer Research Campaign http://www.bjcancer.com PMID:11207042

  13. [Multiple endocrine neoplasia type 1: genetic study of a large family].

    PubMed

    Orellana, C; Palasí, R; Martínez, F; Ponce, J L; Gil Sanz, J; Sancho Fornos, S; Prieto, F

    1999-03-01

    Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disorder characterised by the predisposition of the cells from parathyroid glands, endocrine pancreas and adenohypophysis to develop neoplasms. We report the genetic study of an extended family with at least 8 affected patients and 10 putative carriers of a mutation in MEN-1 gene. One intragenic (Asp418 GAC-->GAT), and five flanking markers were characterised in the family by PCR amplification and polyachrylamide gel electrophoresis. Association of the disease to MEN-1 gene was confirmed for this family: all the affected members show a haplotype in common. Three patients at risk were diagnosed as non-carriers, since they have not inherited that haplotype. The remaining seven members, presymptomatic carriers, are included in a follow-up protocol. The genetic study of families segregating MEN-1 syndrome are useful in avoiding indiscriminate follow-up determinations to those members who have not received the genetic predisposition to develop any of the manifestations of the syndrome. Segregation analysis with linked markers is useful, under certain circumstances, to perform such type of studies. PMID:10207847

  14. Histone Recognition and Large-Scale Structural Analysis of the Human Bromodomain Family

    PubMed Central

    Filippakopoulos, Panagis; Picaud, Sarah; Mangos, Maria; Keates, Tracy; Lambert, Jean-Philippe; Barsyte-Lovejoy, Dalia; Felletar, Ildiko; Volkmer, Rudolf; Müller, Susanne; Pawson, Tony; Gingras, Anne-Claude; Arrowsmith, Cheryl H.; Knapp, Stefan

    2012-01-01

    Summary Bromodomains (BRDs) are protein interaction modules that specifically recognize ε-N-lysine acetylation motifs, a key event in the reading process of epigenetic marks. The 61 BRDs in the human genome cluster into eight families based on structure/sequence similarity. Here, we present 29 high-resolution crystal structures, covering all BRD families. Comprehensive crossfamily structural analysis identifies conserved and family-specific structural features that are necessary for specific acetylation-dependent substrate recognition. Screening of more than 30 representative BRDs against systematic histone-peptide arrays identifies new BRD substrates and reveals a strong influence of flanking posttranslational modifications, such as acetylation and phosphorylation, suggesting that BRDs recognize combinations of marks rather than singly acetylated sequences. We further uncovered a structural mechanism for the simultaneous binding and recognition of diverse diacetyl-containing peptides by BRD4. These data provide a foundation for structure-based drug design of specific inhibitors for this emerging target family. PMID:22464331

  15. Evolution of a large, conserved, and syntenic gene family in insects.

    PubMed

    Shah, Neethu; Dorer, Douglas R; Moriyama, Etsuko N; Christensen, Alan C

    2012-02-01

    The Osiris gene family, first described in Drosophila melanogaster, is clustered in the genomes of all Drosophila species sequenced to date. In D. melanogaster, it explains the enigmatic phenomenon of the triplo-lethal and haploinsufficient locus Tpl. The synteny of Osiris genes in flies is well conserved, and it is one of the largest syntenic blocks in the Drosophila group. By examining the genome sequences of other insects in a wide range of taxonomic orders, we show here that the gene family is well-conserved and syntenic not only in the diptera but across the holometabolous and hemimetabolous insects. Osiris gene homologs have also been found in the expressed sequence tag sequences of various other insects but are absent from all groups that are not insects, including crustacea and arachnids. It is clear that the gene family evolved by gene duplication and neofunctionalization very soon after the divergence of the insects from other arthropods but before the divergence of the insects from one another and that the sequences and synteny have been maintained by selection ever since.

  16. Dividing the Large Glycoside Hydrolase Family 43 into Subfamilies: a Motivation for Detailed Enzyme Characterization

    PubMed Central

    Mewis, Keith; Lombard, Vincent

    2016-01-01

    The rapid rise in DNA sequencing has led to an expansion in the number of glycoside hydrolase (GH) families. The GH43 family currently contains α-l-arabinofuranosidase, β-d-xylosidase, α-l-arabinanase, and β-d-galactosidase enzymes for the debranching and degradation of hemicellulose and pectin polymers. Many studies have revealed finer details about members of GH43 that necessitate the division of GH43 into subfamilies, as was done previously for the GH5 and GH13 families. The work presented here is a robust subfamily classification that assigns over 91% of all complete GH43 domains into 37 subfamilies that correlate with conserved sequence residues and results of biochemical assays and structural studies. Furthermore, cooccurrence analysis of these subfamilies and other functional modules revealed strong associations between some GH43 subfamilies and CBM6 and CBM13 domains. Cooccurrence analysis also revealed the presence of proteins containing up to three GH43 domains and belonging to different subfamilies, suggesting significant functional differences for each subfamily. Overall, the subfamily analysis suggests that the GH43 enzymes probably display a hitherto underestimated variety of subtle specificity features that are not apparent when the enzymes are assayed with simple synthetic substrates, such as pNP-glycosides. PMID:26729713

  17. The Bacterial Intimins and Invasins: A Large and Novel Family of Secreted Proteins

    PubMed Central

    Tsai, Jennifer C.; Yen, Ming-Ren; Castillo, Rostislav; Leyton, Denisse L.; Henderson, Ian R.; Saier, Milton H.

    2010-01-01

    Background Gram-negative bacteria have developed a limited repertoire of solutions for secreting proteins from the cytoplasmic compartment to the exterior of the cell. Amongst the spectrum of secreted proteins are the intimins and invasins (the Int/Inv family; TC# 1.B.54) which are characterized by an N-terminal β-barrel domain and a C-terminal surface localized passenger domain. Despite the important role played by members of this family in diseases mediated by several species of the Enterobacteriaceae, there has been little appreciation for the distribution and diversity of these proteins amongst Gram-negative bacteria. Furthermore, there is little understanding of the molecular events governing secretion of these proteins to the extracellular milieu. Principal Findings In silico approaches were used to analyze the domain organization and diversity of members of this secretion family. Proteins belonging to this family are predominantly associated with organisms from the γ-proteobacteria. Whilst proteins from the Chlamydia, γ-, β- and ε-proteobacteria possess β-barrel domains and passenger domains of various sizes, Int/Inv proteins from the α-proteobacteria, cyanobacteria and chlorobi possess only the predicted β-barrel domains. Phylogenetic analyses revealed that with few exceptions these proteins cluster according to organismal type, indicating that divergence occurred contemporaneously with speciation, and that horizontal transfer was limited. Clustering patterns of the β-barrel domains correlate well with those of the full-length proteins although the passenger domains do so with much less consistency. The modular subdomain design of the passenger domains suggests that subdomain duplication and deletion have occurred with high frequency over evolutionary time. However, all repeated subdomains are found in tandem, suggesting that subdomain shuffling occurred rarely if at all. Topological predictions for the β-barrel domains are presented. Conclusion

  18. The Rose Coloured Wave in Swedish Pedagogy

    ERIC Educational Resources Information Center

    Callewaert, Staf; Kallos, Daniel

    1976-01-01

    A new trend in Swedish pedagogical research is described and its effect on Swedish society is measured. The research is described as a middle-class phenomenon, which is non-scientific and ideological in character. The author concludes that researchers should also engage in pedagogical research of a more traditional and theoretical nature.…

  19. English and Swedish in CLIL Student Texts

    ERIC Educational Resources Information Center

    Falk, Maria Lim

    2015-01-01

    This study investigates Swedish students' ability to produce the discourse of the subject history, in a situation where they had to demonstrate historical knowledge in written explanations, and where both English and Swedish are involved. The students attend a content and language integrated learning (CLIL) programme at the upper secondary school…

  20. Care of the Dying: A Swedish Perspective

    ERIC Educational Resources Information Center

    Feigenberg, Loma; Fulton, Robert

    1977-01-01

    This article illustrates various aspects of terminal care, and shows that rules and norms for such care do not exist today. The authors advocate the formulation of an aim for humane treatment of dying patients, and its application in a manner appropriate to Swedish medical concepts and Swedish conditions. (Author)

  1. Injuries in Swedish elite basketball.

    PubMed

    Colliander, E; Eriksson, E; Herkel, M; Sköld, P

    1986-02-01

    All Swedish male and female elite basketball players were interviewed concerning their injuries during 1981/1982. Fifty-eight percent of the male and 62% of the female players reported injuries. The injury frequency was 2.5 injuries/1,000 activity-hours in male and 2.85 injuries/1,000 hours of activity in female players. This corresponds to 8.6 injuries/male team/season and 7.5 injuries/female team/season. An ankle twist was the most common injury (52%) while a knee injury was involved in 18%. Prophylactic orthoses for knee and ankle are suggested.

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

    PubMed Central

    Miano, Maria Giuseppina; Laperuta, Carmela; Chiurazzi, Pietro; D'Urso, Michele; Ursini, Matilde Valeria

    2007-01-01

    Background The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 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 (<40). The coexistence within the same family of two dysfunctional ovarian conditions, one FMR1-related and one not FMR1-related, suggests that the complexity of familial POF conditions is larger than expected. 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. PMID:17428316

  3. SLE like syndrome and functional deficiency of C1q in members of a large family.

    PubMed

    Hannema, A J; Kluin-Nelemans, J C; Hack, C E; Eerenberg-Belmer, A J; Mallée, C; van Helden, H P

    1984-01-01

    Two sisters and a brother from one family are described whose sera were deficient in haemolytic complement function. This defect was restored by addition of purified C1q. In their sera, C1q like material was found, whereas C1r and C1s were normal or increased in concentration, as were the other complement components tested. All three had suffered from glomerulonephritis during childhood. A renal biopsy in the brother recently disclosed a membranous glomerulopathy stage 1; otherwise, he is apparently healthy. In both sisters, a systemic lupus erythematosus like disease became manifest at the age of 20 and 23, respectively, resulting in the death of one of them. In the serum of these three family members, the C1q like material was antigenically deficient compared with normal C1q and had, on sucrose gradient analysis, a molecular weight of approximately 65,000 daltons. It did not bind to C1r and C1s. Binding of the dysfunctional C1q to aggregated human gammaglobulin could be demonstrated. On double immunodiffusion analysis, the abnormal C1q was identical with reduced and alkylated C1q. The possible structure of the abnormal C1q molecule is discussed.

  4. Expressing communicative intents in Estonian, Finnish, and Swedish mother-adolescent interactions.

    PubMed

    Tulviste, Tiia; Mizera, Luule; De Geer, Boel

    2004-11-01

    The present article focused on two types of communicative intent (directing behaviour vs. eliciting talk) expressed by mothers and teenagers during everyday family interactions in Estonian, Finnish, and Swedish mono- and bicultural families. Three monocultural groups consisted of 17 Estonian, 19 Swedish, and 18 Finnish families living in their country of origin; two bicultural and bilingual groups consisted of 18 Estonian and 18 Finnish families residing in Sweden. All the children were between 9;o and 13;0. The results revealed that the Estonian monocultural mothers were highly directive and direct: issuing behavioural directives most frequently and using the highest proportion of imperatives among all samples. Contrary to our expectations, the mothers who tended to be more concerned with controlling their children's behaviour also elicited conversation more frequently from teenagers by using a larger number of information requests. These requests seemed to serve as another form of attempted control over adolescents' behaviour--their communicative behaviour. The Swedish monocultural children were more active in controlling their mothers' behaviour than their counterparts, possibly illustrating the Swedish value of generational equality. PMID:15658746

  5. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus

    SciTech Connect

    Belal, S.; Ben Hamida, C.; Hentati, F.; Ben Hamida, M. ); Panayides, K.; Ioannou, P.; MIddleton, L.T. ); Sirugo, G.; Koenig, S.; Mandel, J.L ); Beckmann, J. )

    1992-12-01

    Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. The authors present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Freidreich ataxia gene and which should orient the search in the D9S5 region. 16 refs., 1 fig., 1 tab.

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  8. Avoiding the pitfalls of adaptive management implementation in Swedish silviculture.

    PubMed

    Rist, Lucy; Felton, Adam; Mårald, Erland; Samuelsson, Lars; Lundmark, Tomas; Rosvall, Ola

    2016-02-01

    There is a growing demand for alternatives to Sweden's current dominant silvicultural system, driven by a desire to raise biomass production, meet environmental goals and mitigate climate change. However, moving towards diversified forest management that deviates from well established silvicultural practices carries many uncertainties and risks. Adaptive management is often suggested as an effective means of managing in the context of such complexities. Yet there has been scepticism over its appropriateness in cases characterised by large spatial extents, extended temporal scales and complex land ownership-characteristics typical of Swedish forestry. Drawing on published research, including a new paradigm for adaptive management, we indicate how common pitfalls can be avoided during implementation. We indicate the investment, infrastructure, and considerations necessary to benefit from adaptive management. In doing so, we show how this approach could offer a pragmatic operational model for managing the uncertainties, risks and obstacles associated with new silvicultural systems and the challenges facing Swedish forestry. PMID:26744049

  9. Avoiding the pitfalls of adaptive management implementation in Swedish silviculture.

    PubMed

    Rist, Lucy; Felton, Adam; Mårald, Erland; Samuelsson, Lars; Lundmark, Tomas; Rosvall, Ola

    2016-02-01

    There is a growing demand for alternatives to Sweden's current dominant silvicultural system, driven by a desire to raise biomass production, meet environmental goals and mitigate climate change. However, moving towards diversified forest management that deviates from well established silvicultural practices carries many uncertainties and risks. Adaptive management is often suggested as an effective means of managing in the context of such complexities. Yet there has been scepticism over its appropriateness in cases characterised by large spatial extents, extended temporal scales and complex land ownership-characteristics typical of Swedish forestry. Drawing on published research, including a new paradigm for adaptive management, we indicate how common pitfalls can be avoided during implementation. We indicate the investment, infrastructure, and considerations necessary to benefit from adaptive management. In doing so, we show how this approach could offer a pragmatic operational model for managing the uncertainties, risks and obstacles associated with new silvicultural systems and the challenges facing Swedish forestry.

  10. Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis

    PubMed Central

    Daly, Sarah B.; Shah, Hitesh; O'Sullivan, James; Anderson, Beverley; Bhaskar, Sanjeev; Williams, Simon; Al-Sheqaih, Nada; Mueed Bidchol, Abdul; Banka, Siddharth; Newman, William G.; Girisha, Katta M.

    2014-01-01

    Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by congenital contractures of the distal limb joints without a neuromuscular disease. Mutations in at least 8 different genes have been shown to cause DA. Here, we report a 4-generation Indian family with 18 affected members presenting variable features of camptodactyly, brachydactyly, syndactyly, decreased flexion palmar creases, ulnar deviation of the hands, sandal gaps and club feet. We undertook exome sequencing of 3 distantly related affected individuals. Bioinformatics filtering revealed a known pathogenic missense mutation c.188G>A (p.Arg63His) in TNNT3 in all 3 affected individuals that segregated with the phenotype. The affected individuals exhibit significant phenotypic variability. This study demonstrates the value of exome sequencing helping to define the causative variant in genetically heterogeneous disorders. PMID:25337069

  11. Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

    PubMed Central

    Mistry, Vanisha; Bockett, Nicholas A.; Levine, Adam P.; Mirza, Muddassar M.; Hunt, Karen A.; Ciclitira, Paul J.; Hummerich, Holger; Neuhausen, Susan L.; Simpson, Michael A.; Plagnol, Vincent; van Heel, David A.

    2015-01-01

    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. PMID:25635822

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

    PubMed

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

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

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

    PubMed

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

    The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome. PMID:12032571

  14. [Computerized family reconstitution on a large data-base: the SOREP system].

    PubMed

    Bouchard, G; Roy, R; Casgrain, B

    1986-01-01

    This article outlines a new system for computerized family reconstitution. It has been developed in the last 10 years by a multidisciplinary team of Quebec researchers belonging to the Inter-University Research Center on Populations (SOREP). Basically, this system is characterized by 1) an attempt to computerize as much as possible every step involved in the process of reconstitution, 2) a set of tools devised for identifying and measuring all forms and degrees of similarity between names and surnames, 3) a technique to process cases of ambiguous links, 4) a set of programs used to assess the quality of the data and the strength of the links created, and 5) an attempt to maximize the performance of the linkage work in terms of both efficiency and accuracy. The system has been designed to support several kinds of analyses, from social history and demography to population genetics. The paper contains a brief overview of the current state of research in the field record linkage, an introduction to the Saguenay population register, and a description of the system itself which has utilized sucessfully in the last year on the 660,000 Saguenay parish records, covering the period 1842-1971.

  15. A large family of Dscam genes with tandemly arrayed 5' cassettes in Chelicerata.

    PubMed

    Yue, Yuan; Meng, Yijun; Ma, Hongru; Hou, Shouqing; Cao, Guozheng; Hong, Weiling; Shi, Yang; Guo, Pengjuan; Liu, Baoping; Shi, Feng; Yang, Yun; Jin, Yongfeng

    2016-01-01

    Drosophila Dscam1 (Down Syndrome Cell Adhesion Molecules) and vertebrate clustered protocadherins (Pcdhs) are two classic examples of the extraordinary isoform diversity from a single genomic locus. Dscam1 encodes 38,016 distinct isoforms via mutually exclusive splicing in D. melanogaster, while the vertebrate clustered Pcdhs utilize alternative promoters to generate isoform diversity. Here we reveal a shortened Dscam gene family with tandemly arrayed 5' cassettes in Chelicerata. These cassette repeats generally comprise two or four exons, corresponding to variable Immunoglobulin 7 (Ig7) or Ig7-8 domains of Drosophila Dscam1. Furthermore, extraordinary isoform diversity has been generated through a combination of alternating promoter and alternative splicing. These sDscams have a high sequence similarity with Drosophila Dscam1, and share striking organizational resemblance to the 5' variable regions of vertebrate clustered Pcdhs. Hence, our findings have important implications for understanding the functional similarities between Drosophila Dscam1 and vertebrate Pcdhs, and may provide further mechanistic insights into the regulation of isoform diversity. PMID:27080167

  16. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

    PubMed

    Vogel, Markus; Velleuer, Eunike; Schmidt-Jiménez, Leon F; Mayatepek, Ertan; Borkhardt, Arndt; Alawi, Malik; Kutsche, Kerstin; Kortüm, Fanny

    2016-07-01

    Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2). The only known causative gene for HCFP is HOXB1 (17q21; HCFP3), encoding a homeodomain-containing transcription factor of the HOX gene family, which are master regulators of early developmental processes. The previously reported HOXB1 mutations change arginine 207 to another residue in the homeodomain and alter binding capacity of HOXB1 for transcriptional co-regulators and DNA. We performed whole exome sequencing in HCFP-affected individuals of a large consanguineous Moroccan family. The homozygous nonsense variant c.66C>G/p.(Tyr22*) in HOXB1 was identified in the four patients with HCFP and ear malformations, while healthy family members carried the mutation in the heterozygous state. This is the first disease-associated HOXB1 mutation with a likely loss-of-function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator. © 2016 Wiley Periodicals, Inc. PMID:27144914

  17. A large plant beta-tubulin family with minimal C-terminal variation but differences in expression.

    PubMed

    Jost, Wolfgang; Baur, Armin; Nick, Peter; Reski, Ralf; Gorr, Gilbert

    2004-09-29

    Tubulins, as the major structural component of microtubules (MT), are highly conserved throughout the entire eukaryotic kingdom. They consist of alpha/beta heterodimers. Both monomers, at least in multicellular organisms, are encoded by gene families. In higher plants up to eight beta-tubulin isotypes, mostly differing in their very C-termini, have been described. These variable beta-tubulin C-termini have been discussed in the context of functional microtubule diversity. However, in plants, in contrast to vertebrates, functional isotype specificity remains yet to be demonstrated. Unlike higher plants, unicellular green algae in general do not exhibit isotypic variations. The moss Physcomitrella patens is a phylogenetic intermediate between higher plants and green algae. We isolated six beta-tubulin genes from Physcomitrella, named PpTub1 to 6. We show that the exon/intron structure, with the exception of one additional intron in PpTub6, is identical with that of higher plants, and that some members of the family are differentially expressed. Moreover, we find that all Physcomitrella isotypes are highly conserved and, most strikingly, are almost identical within their C-terminal amino acids (aa). This evolutionary ancient and large beta-tubulin gene family without significant isotypic sequence variation points to a role of differential regulation in the evolution of plant tubulin isotypes. PMID:15556303

  18. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

    PubMed

    Vogel, Markus; Velleuer, Eunike; Schmidt-Jiménez, Leon F; Mayatepek, Ertan; Borkhardt, Arndt; Alawi, Malik; Kutsche, Kerstin; Kortüm, Fanny

    2016-07-01

    Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2). The only known causative gene for HCFP is HOXB1 (17q21; HCFP3), encoding a homeodomain-containing transcription factor of the HOX gene family, which are master regulators of early developmental processes. The previously reported HOXB1 mutations change arginine 207 to another residue in the homeodomain and alter binding capacity of HOXB1 for transcriptional co-regulators and DNA. We performed whole exome sequencing in HCFP-affected individuals of a large consanguineous Moroccan family. The homozygous nonsense variant c.66C>G/p.(Tyr22*) in HOXB1 was identified in the four patients with HCFP and ear malformations, while healthy family members carried the mutation in the heterozygous state. This is the first disease-associated HOXB1 mutation with a likely loss-of-function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator. © 2016 Wiley Periodicals, Inc.

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

    SciTech Connect

    Shashi, V.; Golden, W.L.; Allinson, P.S.

    1996-06-01

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

  20. A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

    PubMed

    Saglar, Emel; Deniz, Ferhat; Erdem, Beril; Karaduman, Tugce; Yönem, Arif; Cagiltay, Eylem; Mergen, Hatice

    2014-05-01

    X-linked nephrogenic diabetes insipidus (NDI) is a rare hereditary disease caused by mutations in arginine vasopressin type 2 receptor (AVPR2) and characterized by the production of large amounts of urine and an inability to concentrate urine in response to the antidiuretic hormone vasopressin. We have identified a novel 388 bp deletion starting in intron 1 and ending in exon 2 in the AVPR2 gene in a patient with NDI and in his family. We have revealed that this mutation is a de novo mutation for the mother of the proband patient. Prospective clinical data were collected for all family members. The water deprivation test confirmed the diagnosis of diabetes insipidus. The patient has severe symptoms like deep polyuria nocturia, polydipsia, and fatigue. He was given arginine vasopressin treatment while he was a child. However, he could not get well due to his nephrogenic type of illness. Both of his nephews have the same complains in addition to failure to grow. We have sequenced all exons and intron-exon boundaries of the AVPR2 gene of all family members. The analyses of bioinformatics and comparative genomics of the deletion were done via considering the DNA level damage. AVPR2 gene mutation results in the absence of the three transmembrane domains, two extracellular domains, and one cytoplasmic domain. Three-dimensional protein structure prediction was shown. We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities.

  1. Swedish women and new technology.

    PubMed

    Westlander, G; Magnusson, B

    1988-01-01

    This paper provides information and analysis on the overall situation of women in Sweden with regard to computer based new technology. It is based on a survey of computer use in Sweden, carried out in June 1984 by Statistics Sweden. The aim of the study was to ascertain the knowledge base and experience with computers of the Swedish population. In order to study whether sex differences exist a special analysis of the data was carried out. Women are involved in new technology in Sweden to a very great extent, however, there is male dominance in both the initiation and development of the technology. This may be as much reflective of general male and female roles in the workplace as of the nature of new technology itself. PMID:3239085

  2. Dengue fever among Swedish tourists.

    PubMed

    Wittesjö, B; Eitrem, R; Niklasson, B

    1993-01-01

    Serologically confirmed cases of dengue fever among Swedish tourists were studied retrospectively. Dengue fever was found to be the most commonly diagnosed imported arbovirus disease in Sweden during the period December 1989-November 1990. 24 cases were diagnosed. The geographical epidemiology showed that 17/23 who answered a questionnaire were infected in Thailand, most often during spring and early summer. 17 patients were admitted to hospital. All patients had high fever. Other common symptoms were myalgia, headache, fatigue/prostration and erythema. All patients but 1 with a long-standing ataxia recovered without sequelae. Low white blood cell and platelet counts were registered in all sampled patients. Depressed sodium levels and elevated liver enzymes were seen regularly. Dengue virus type 1 was isolated from 2 patients who suffered from dengue haemorrhagic fever grade II in the course of their primary dengue virus infection.

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

    SciTech Connect

    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.

  4. The Swedish Speech Interpretation Service: an exploratory study of a new communication support provided to people with aphasia.

    PubMed

    Larsson, Inger; Thorén-Jönsson, Anna-Lisa

    2007-12-01

    Until recently, people with complex communication needs have had no access to professional interpreters. The Swedish Speech Interpretation Service (SSIS) is attempting to address this problem. This qualitative study reports on how 12 persons with aphasia experienced the services of a professional interpreter from the SSIS. The results are presented in two themes: (a) The purpose of using an interpreter, which addresses issues relating to autonomy, privacy, and burden on family members; and (b) perceptions of quality of service, which addresses issues relating to the skills and professionalism of and accessibility to interpreters. Results highlight the ongoing need for the SSIS and its importance to the participants. The professional interpreter as an augmentative and alternative communication (AAC) "tool" that could be used to enhance the participation of people with aphasia in the community-at-large, is also discussed; as is whether relatives and other non-professionals or professional interpreters should interpret for people with aphasia.

  5. The Swedish Speech Interpretation Service: an exploratory study of a new communication support provided to people with aphasia.

    PubMed

    Larsson, Inger; Thorén-Jönsson, Anna-Lisa

    2007-01-01

    Until recently, people with complex communication needs have had no access to professional interpreters. The Swedish Speech Interpretation Service (SSIS) is attempting to address this problem. This qualitative study reports on how 12 persons with aphasia experienced the services of a professional interpreter from the SSIS. The results are presented in two themes: (a) The purpose of using an interpreter, which addresses issues relating to autonomy, privacy, and burden on family members; and (b) perceptions of quality of service, which addresses issues relating to the skills and professionalism of and accessibility to interpreters. Results highlight the ongoing need for the SSIS and its importance to the participants. The professional interpreter as an augmentative and alternative communication (AAC) "tool" that could be used to enhance the participation of people with aphasia in the community-at large, is also discussed; as is whether relatives and other non-professionals or professional interpreters should interpret for people with aphasia.

  6. The nuclear issue in Swedish schools.

    PubMed

    Bergström, A

    1992-01-01

    Sweden is almost unique in that its government through its foreign office gave financial support to a carefully thought out proposal from Svenska Läkare Mot Kärnvapen (Swedish Physicians against Nuclear Weapons) for a youth education project on the nuclear issue. The Swedish Board of Education has agreed to provide: 1. In-service training for teachers on current affairs; 2. Up-to-date teaching resources and materials, such as the booklet, Facts and Reflections on Nuclear Weapons; 3. A curriculum stating that education on nuclear and other environment issues should not be a special subject but should be involved in many school activities-for example the learning of foreign languages, biology, physics, science and even physical education. The Board's recommendations have been sent to every Swedish school, together with the booklet, but each school decides for itself whether or not to implement them. However, some teachers do some education on the nuclear issue in most Swedish schools.

  7. Suicide rate among former Swedish peacekeeping personnel.

    PubMed

    Michel, Per-Olof; Lundin, Tom; Larsson, Gerry

    2007-03-01

    Increased suicide rates for military personnel suffering from post-traumatic stress disorders have been reported in various countries. Although it is known that some peacekeepers are exposed to potentially traumatic events and are thus at risk of suffering from post-traumatic stress reactions, only a few studies have examined suicide rates in this group. Therefore, the aim of this study was to investigate the suicide rate among former Swedish peacekeeping personnel. We compared 39,768 former Swedish peacekeepers to the general population in the National General Population Registry and the Cause-of-Death Registry. A lower number of suicides was found among former Swedish peacekeepers than in the general population. In conclusion, Swedish personnel serving in international peace-keeping operations do not show a higher suicide rate than the general population. Unique problems associated with this research area are discussed. PMID:17436772

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

    PubMed Central

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

    2016-01-01

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

  9. Lipid transfer particle from the silkworm, Bombyx mori, is a novel member of the apoB/large lipid transfer protein family[S

    PubMed Central

    Yokoyama, Hiroshi; Yokoyama, Takeru; Yuasa, Masashi; Fujimoto, Hirofumi; Sakudoh, Takashi; Honda, Naoko; Fugo, Hajime; Tsuchida, Kozo

    2013-01-01

    Lipid transfer particle (LTP) is a high-molecular-weight, very high-density lipoprotein known to catalyze the transfer of lipids between a variety of lipoproteins, including both insects and vertebrates. Studying the biosynthesis and regulation pathways of LTP in detail has not been possible due to a lack of information regarding the apoproteins. Here, we sequenced the cDNA and deduced amino acid sequences for three apoproteins of LTP from the silkworm (Bombyx mori). The three subunit proteins of the LTP are coded by two genes, apoLTP-II/I and apoLTP-III. ApoLTP-I and apoLTP-II are predicted to be generated by posttranslational cleavage of the precursor protein, apoLTP-II/I. Clusters of amphipathic secondary structure within apoLTP-II/I are similar to Homo sapiens apolipoprotein B (apoB) and insect lipophorins. The apoLTP-II/I gene is a novel member of the apoB/large lipid transfer protein gene family. ApoLTP-III has a putative conserved juvenile hormone-binding protein superfamily domain. Expression of apoLTP-II/I and apoLTP-III genes was synchronized and both genes were primarily expressed in the fat body at the stage corresponding to increased lipid transport needs. We are now in a position to study in detail the physiological role of LTP and its biosynthesis and assembly. PMID:23812557

  10. A global assessment of a large monocot family highlights the need for group-specific analyses of invasiveness

    PubMed Central

    Moodley, Desika; Procheş, Şerban; Wilson, John R. U.

    2016-01-01

    Significant progress has been made in understanding biological invasions recently, and one of the key findings is that the determinants of naturalization and invasion success vary from group to group. Here, we explore this variation for one of the largest plant families in the world, the Araceae. This group provides an excellent opportunity for identifying determinants of invasiveness in herbaceous plants, since it is one of the families most popular with horticulturalists, with species occupying various habitats and comprising many different life forms. We first developed a checklist of 3494 species of Araceae using online databases and literature sources. We aimed to determine whether invasiveness across the introduction–naturalization–invasion continuum is associated to particular traits within the family, and whether analyses focussed on specific life forms can reveal any mechanistic correlates. Boosted regression tree models were based on species invasion statuses as the response variables, and traits associated with human use, biological characteristics and distribution as the explanatory variables. The models indicate that biological traits such as plant life form and pollinator type are consistently strong correlates of invasiveness. Additionally, large-scale correlates such as the number of native floristic regions and number of introduced regions are also influential at particular stages in the invasion continuum. We used these traits to build a phenogram showing groups defined by the similarity of characters. We identified nine groups that have a greater tendency to invasiveness (including Alocasia, the Lemnoideae and Epipremnum). From this, we propose a list of species that are not currently invasive for which we would recommend a precautionary approach to be taken. The successful management of plant invasions will depend on understanding such context-dependent effects across taxonomic groups, and across the different stages of the invasion process

  11. A global assessment of a large monocot family highlights the need for group-specific analyses of invasiveness.

    PubMed

    Moodley, Desika; Procheş, Şerban; Wilson, John R U

    2016-01-01

    Significant progress has been made in understanding biological invasions recently, and one of the key findings is that the determinants of naturalization and invasion success vary from group to group. Here, we explore this variation for one of the largest plant families in the world, the Araceae. This group provides an excellent opportunity for identifying determinants of invasiveness in herbaceous plants, since it is one of the families most popular with horticulturalists, with species occupying various habitats and comprising many different life forms. We first developed a checklist of 3494 species of Araceae using online databases and literature sources. We aimed to determine whether invasiveness across the introduction-naturalization-invasion continuum is associated to particular traits within the family, and whether analyses focussed on specific life forms can reveal any mechanistic correlates. Boosted regression tree models were based on species invasion statuses as the response variables, and traits associated with human use, biological characteristics and distribution as the explanatory variables. The models indicate that biological traits such as plant life form and pollinator type are consistently strong correlates of invasiveness. Additionally, large-scale correlates such as the number of native floristic regions and number of introduced regions are also influential at particular stages in the invasion continuum. We used these traits to build a phenogram showing groups defined by the similarity of characters. We identified nine groups that have a greater tendency to invasiveness (includingAlocasia, the Lemnoideae andEpipremnum). From this, we propose a list of species that are not currently invasive for which we would recommend a precautionary approach to be taken. The successful management of plant invasions will depend on understanding such context-dependent effects across taxonomic groups, and across the different stages of the invasion process.

  12. The in vitro toxicology of Swedish snus

    PubMed Central

    Coggins, Christopher R. E.; Ballantyne, Mark; Curvall, Margareta; Rutqvist, Lars-Erik

    2012-01-01

    Three commercial brands of Swedish snus (SWS), an experimental SWS, and the 2S3 reference moist snuff were each tested in four in vitro toxicology assays. These assays were: Salmonella reverse mutation, mouse lymphoma, in vitro micronucleus, and cytotoxicity. Water extractions of each of the 5 products were tested using several different concentrations; the experimental SWS was also extracted using dimethyl sulfoxide (DMSO). Extraction procedures were verified by nicotine determinations. Results for SWS in the mutagenicity assays were broadly negative: there were occasional positive responses, but these were effectively at the highest concentration only (concentrations well above those suggested by regulatory guidelines), and were often associated with cytotoxicity. The 2S3 reference was unequivocally positive in one of the three conditions of the micronucleus assay (MNA), at the highest concentration only. Positive controls produced the expected responses in each assay. The SWS data are contrasted with data reported for combusted tobacco in the form of cigarettes, where strongly positive responses have been routinely reported for mutagenicity and cytotoxicity. These negative findings in a laboratory setting concur with the large amount of epidemiological data from Sweden, data showing that SWS are associated with considerably lower carcinogenic potential when compared with cigarettes. PMID:22400986

  13. Radiological protection of the environment from the Swedish point of view.

    PubMed

    Hohm, Lars-Erik; Hubbard, Lynn; Larsson, Carl-Magnus; Sundell-Bergman, Synnöve

    2002-09-01

    The current system of radiological protection is aimed at protecting human health, and largely neglects both the effects of radiation on the environment and the managerial aspects of environmental protection. The Swedish Radiation Protection Act was revised in 1988 and includes environmental protection as one of its aims. In practice, little guidance had been given in the regulations based on the Act until 1998, when the Swedish Radiation Protection Authority (SSI) formulated environmental aims in its regulations concerning protection of human health and the environment in connection to the final management of spent nuclear fuel and waste. These regulations focus on protection of biodiversity and biological resources, based on ecosystem characterisation. In a broader perspective, the Swedish Parliament established 15 national environmental quality objectives in 1999, covering all aspects of protecting the environment, including the effects of radiation. This paper reviews the background for radiological protection of the environment from both an international and a Swedish perspective, describing the aims and current activities in establishing a system for assessing environmental effects and their consequences that can be used in decision-making. Such activities are largely a result of the European Union research project FASSET (Framework for Assessment of Environmental Impact), carried out under the 5th Framework Programme of the Union. This work is complemented at the Swedish national level by government support to initiate a national environmental monitoring and assessment programme for characterising the radiation environment, which will provide the foundation for decision-making. PMID:12375787

  14. Improved white spruce (Picea glauca) genome assemblies and annotation of large gene families of conifer terpenoid and phenolic defense metabolism.

    PubMed

    Warren, René L; Keeling, Christopher I; Yuen, Macaire Man Saint; Raymond, Anthony; Taylor, Greg A; Vandervalk, Benjamin P; Mohamadi, Hamid; Paulino, Daniel; Chiu, Readman; Jackman, Shaun D; Robertson, Gordon; Yang, Chen; Boyle, Brian; Hoffmann, Margarete; Weigel, Detlef; Nelson, David R; Ritland, Carol; Isabel, Nathalie; Jaquish, Barry; Yanchuk, Alvin; Bousquet, Jean; Jones, Steven J M; MacKay, John; Birol, Inanc; Bohlmann, Joerg

    2015-07-01

    White spruce (Picea glauca), a gymnosperm tree, has been established as one of the models for conifer genomics. We describe the draft genome assemblies of two white spruce genotypes, PG29 and WS77111, innovative tools for the assembly of very large genomes, and the conifer genomics resources developed in this process. The two white spruce genotypes originate from distant geographic regions of western (PG29) and eastern (WS77111) North America, and represent elite trees in two Canadian tree-breeding programs. We present an update (V3 and V4) for a previously reported PG29 V2 draft genome assembly and introduce a second white spruce genome assembly for genotype WS77111. Assemblies of the PG29 and WS77111 genomes confirm the reconstructed white spruce genome size in the 20 Gbp range, and show broad synteny. Using the PG29 V3 assembly and additional white spruce genomics and transcriptomics resources, we performed MAKER-P annotation and meticulous expert annotation of very large gene families of conifer defense metabolism, the terpene synthases and cytochrome P450s. We also comprehensively annotated the white spruce mevalonate, methylerythritol phosphate and phenylpropanoid pathways. These analyses highlighted the large extent of gene and pseudogene duplications in a conifer genome, in particular for genes of secondary (i.e. specialized) metabolism, and the potential for gain and loss of function for defense and adaptation. PMID:26017574

  15. Improved white spruce (Picea glauca) genome assemblies and annotation of large gene families of conifer terpenoid and phenolic defense metabolism.

    PubMed

    Warren, René L; Keeling, Christopher I; Yuen, Macaire Man Saint; Raymond, Anthony; Taylor, Greg A; Vandervalk, Benjamin P; Mohamadi, Hamid; Paulino, Daniel; Chiu, Readman; Jackman, Shaun D; Robertson, Gordon; Yang, Chen; Boyle, Brian; Hoffmann, Margarete; Weigel, Detlef; Nelson, David R; Ritland, Carol; Isabel, Nathalie; Jaquish, Barry; Yanchuk, Alvin; Bousquet, Jean; Jones, Steven J M; MacKay, John; Birol, Inanc; Bohlmann, Joerg

    2015-07-01

    White spruce (Picea glauca), a gymnosperm tree, has been established as one of the models for conifer genomics. We describe the draft genome assemblies of two white spruce genotypes, PG29 and WS77111, innovative tools for the assembly of very large genomes, and the conifer genomics resources developed in this process. The two white spruce genotypes originate from distant geographic regions of western (PG29) and eastern (WS77111) North America, and represent elite trees in two Canadian tree-breeding programs. We present an update (V3 and V4) for a previously reported PG29 V2 draft genome assembly and introduce a second white spruce genome assembly for genotype WS77111. Assemblies of the PG29 and WS77111 genomes confirm the reconstructed white spruce genome size in the 20 Gbp range, and show broad synteny. Using the PG29 V3 assembly and additional white spruce genomics and transcriptomics resources, we performed MAKER-P annotation and meticulous expert annotation of very large gene families of conifer defense metabolism, the terpene synthases and cytochrome P450s. We also comprehensively annotated the white spruce mevalonate, methylerythritol phosphate and phenylpropanoid pathways. These analyses highlighted the large extent of gene and pseudogene duplications in a conifer genome, in particular for genes of secondary (i.e. specialized) metabolism, and the potential for gain and loss of function for defense and adaptation.

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

    PubMed

    Santiago, Araceli E; Ruiz-Perez, Fernando; Jo, Noah Y; Vijayakumar, Vidhya; Gong, Mei Q; Nataro, James P

    2014-05-01

    We have reported that transcription of a hypothetical small open reading frame (orf60) in enteroaggregative E. coli (EAEC) strain 042 is impaired after mutation of aggR, which encodes a global virulence activator. We have also reported that the cryptic orf60 locus was linked to protection against EAEC diarrhea in two epidemiologic studies. Here, we report that the orf60 product acts as a negative regulator of aggR itself. The orf60 protein product lacks homology to known repressors, but displays 44-100% similarity to at least fifty previously undescribed small (<10 kDa) hypothetical proteins found in many gram negative pathogen genomes. Expression of orf60 homologs from enterotoxigenic E. coli (ETEC) repressed the expression of the AraC-transcriptional ETEC regulator CfaD/Rns and its regulon in ETEC strain H10407. Complementation in trans of EAEC 042orf60 by orf60 homologs from ETEC and the mouse pathogen Citrobacter rodentium resulted in dramatic suppression of aggR. A C. rodentium orf60 homolog mutant showed increased levels of activator RegA and increased colonization of the adult mouse. We propose the name Aar (AggR-activated regulator) for the clinically and epidemiologically important orf60 product in EAEC, and postulate the existence of a large family of homologs among pathogenic Enterobacteriaceae and Pasteurellaceae. We propose the name ANR (AraC Negative Regulators) for this family. PMID:24875828

  17. A Large Family of Antivirulence Regulators Modulates the Effects of Transcriptional Activators in Gram-negative Pathogenic Bacteria

    PubMed Central

    Santiago, Araceli E.; Ruiz-Perez, Fernando; Jo, Noah Y.; Vijayakumar, Vidhya; Gong, Mei Q.; Nataro, James P.

    2014-01-01

    We have reported that transcription of a hypothetical small open reading frame (orf60) in enteroaggregative E. coli (EAEC) strain 042 is impaired after mutation of aggR, which encodes a global virulence activator. We have also reported that the cryptic orf60 locus was linked to protection against EAEC diarrhea in two epidemiologic studies. Here, we report that the orf60 product acts as a negative regulator of aggR itself. The orf60 protein product lacks homology to known repressors, but displays 44–100% similarity to at least fifty previously undescribed small (<10 kDa) hypothetical proteins found in many gram negative pathogen genomes. Expression of orf60 homologs from enterotoxigenic E. coli (ETEC) repressed the expression of the AraC-transcriptional ETEC regulator CfaD/Rns and its regulon in ETEC strain H10407. Complementation in trans of EAEC 042orf60 by orf60 homologs from ETEC and the mouse pathogen Citrobacter rodentium resulted in dramatic suppression of aggR. A C. rodentium orf60 homolog mutant showed increased levels of activator RegA and increased colonization of the adult mouse. We propose the name Aar (AggR-activated regulator) for the clinically and epidemiologically important orf60 product in EAEC, and postulate the existence of a large family of homologs among pathogenic Enterobacteriaceae and Pasteurellaceae. We propose the name ANR (AraC Negative Regulators) for this family. PMID:24875828

  18. New Family of Quantum Spin Hall Insulators in Two-dimensional Transition-Metal Halide with Large Nontrivial Band Gaps.

    PubMed

    Zhou, Liujiang; Kou, Liangzhi; Sun, Yan; Felser, Claudia; Hu, Feiming; Shan, Guangcun; Smith, Sean C; Yan, Binghai; Frauenheim, Thomas

    2015-12-01

    Topological insulators (TIs) are promising for achieving dissipationless transport devices due to the robust gapless states inside the insulating bulk gap. However, currently realized two-dimensional (2D) TIs, quantum spin Hall (QSH) insulators, suffer from ultrahigh vacuum and extremely low temperature. Thus, seeking for desirable QSH insulators with high feasibility of experimental preparation and large nontrivial gap is of great importance for wide applications in spintronics. On the basis of the first-principles calculations, we predict a novel family of 2D QSH insulators in transition-metal halide MX (M = Zr, Hf; X = Cl, Br, and I) monolayers, especially, which is the first case based on transition-metal halide-based QSH insulators. MX family has the large nontrivial gaps of 0.12-0.4 eV, comparable with bismuth (111) bilayer (0.2 eV), stanene (0.3 eV), and larger than ZrTe5 (0.1 eV) monolayers and graphene-based sandwiched heterstructures (30-70 meV). Their corresponding 3D bulk materials are weak topological insulators from stacking QSH layers, and some of bulk compounds have already been synthesized in experiment. The mechanism for 2D QSH effect in this system originates from a novel d-d band inversion, significantly different from conventional band inversion between s-p, p-p, or d-p orbitals. The realization of pure layered MX monolayers may be prepared by exfoliation from their 3D bulk phases, thus holding great promise for nanoscale device applications and stimulating further efforts on transition metal-based QSH materials.

  19. The exceptionally large genome of Hendra virus: support for creation of a new genus within the family Paramyxoviridae.

    PubMed

    Wang, L F; Yu, M; Hansson, E; Pritchard, L I; Shiell, B; Michalski, W P; Eaton, B T

    2000-11-01

    An outbreak of acute respiratory disease in Hendra, a suburb of Brisbane, Australia, in September 1994 resulted in the deaths of 14 racing horses and a horse trainer. The causative agent was a new member of the family Paramyxoviridae. The virus was originally called Equine morbillivirus but was renamed Hendra virus (HeV) when molecular characterization highlighted differences between it and members of the genus Morbillivirus. Less than 5 years later, the closely related Nipah virus (NiV) emerged in Malaysia, spread rapidly through the pig population, and caused the deaths of over 100 people. We report the characterization of the HeV L gene and protein, the genome termini, and gene boundary sequences, thus completing the HeV genome sequence. In the highly conserved region of the L protein, the HeV sequence GDNE differs from the GDNQ found in almost all other nonsegmented negative-strand (NNS) RNA viruses. HeV has an absolutely conserved intergenic trinucleotide sequence, 3'-GAA-5', and highly conserved transcription initiation and termination sequences similar to those of respiroviruses and morbilliviruses. The large genome size (18,234 nucleotides), the unique complementary genome terminal sequences of HeV, and the limited homology with other members of the Paramyxoviridae suggest that HeV, together with NiV, should be classified in a new genus in this family. The large genome of HeV also fills a gap in the spectrum of genome sizes observed with NNS RNA virus genomes. As such, it provides a further piece in the puzzle of NNS RNA virus evolution.

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

    SciTech Connect

    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

    2010-08-17

    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 {angstrom} 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.

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

    SciTech Connect

    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

    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.

  2. Birth order and physical fitness in early adulthood: evidence from Swedish military conscription data.

    PubMed

    Barclay, Kieron; Myrskylä, Mikko

    2014-12-01

    Physical fitness at young adult ages is an important determinant of physical health, cognitive ability, and mortality. However, few studies have addressed the relationship between early life conditions and physical fitness in adulthood. An important potential factor influencing physical fitness is birth order, which prior studies associate with several early- and later-life outcomes such as height and mortality. This is the first study to analyse the association between birth order and physical fitness in late adolescence. We use military conscription data on 218,873 Swedish males born between 1965 and 1977. Physical fitness is measured by a test of maximal working capacity, a measure of cardiovascular fitness closely related to V02max. We use linear regression with sibling fixed effects, meaning a within-family comparison, to eliminate the confounding influence of unobserved factors that vary between siblings. To understand the mechanism we further analyse whether the association between birth order and physical fitness varies by sibship size, parental socioeconomic status, birth cohort or length of the birth interval. We find a strong, negative and monotonic relationship between birth order and physical fitness. For example, third-born children have a maximal working capacity approximately 0.1 (p < 0.000) standard deviations lower than first-born children. The association exists both in small (3 or less children) and large families (4 or more children), in high and low socioeconomic status families, and amongst cohorts born in the 1960s and the 1970s. While in the whole population the birth order effect does not depend on the length of the birth intervals, in two-child families a longer birth interval strengthens the advantage of the first-born. Our results illustrate the importance of birth order for physical fitness, and suggest that the first-born advantage already arises in late adolescence. PMID:25462615

  3. Lack of Evidence for Increased Genetic Loading for Autism among Families of Affected Females: A Replication from Family History Data in Two Large Samples

    ERIC Educational Resources Information Center

    Goin-Kochel, Robin P.; Abbacchi, Anna; Constantino, John N.

    2007-01-01

    Both the broad and narrow phenotypes of autism have been consistently observed in family members of affected individuals. Additionally, autism spectrum disorders (ASDs) present four times more often in males than in females, for reasons that are currently unknown. In this study, we examined whether there were differences in familial loading of ASD…

  4. Voice handicap index in Swedish.

    PubMed

    Ohlsson, Ann-Christine; Dotevall, Hans

    2009-01-01

    The objective of this study was to evaluate a Swedish version of the voice handicap index questionnaire (Sw-VHI). A total of 57 adult, dysphonic patients and 15 healthy controls completed the Sw-VHI and rated the degree of vocal fatigue and hoarseness on visual analogue scales. A perceptual voice evaluation was also performed. Test-retest reliability was analyzed in 38 subjects without voice complaints. Sw-VHI distinguished between dysphonic subjects and controls (P<0.001). The internal consistency (Cronbach's alpha > 0.84) and test-retest reliability (intraclass correlation coefficient >0.75) were good. Only moderate or weak correlations were found between Sw-VHI and the subjective and perceptual voice ratings. The data indicate that a difference above 13 points for the total Sw-VHI score and above 6 points for the Sw-VHI subscales is significant for an individual when comparing two different occasions. In conclusion, the Sw-VHI appears to be a robust instrument for assessment of the psycho-social impact of a voice disorder. However, Sw-VHI seems to, at least partly, capture different aspects of voice function to the subjective voice ratings and the perceptual voice evaluation.

  5. Tractor accidents in Swedish traffic.

    PubMed

    Pinzke, Stefan; Nilsson, Kerstin; Lundqvist, Peter

    2012-01-01

    The objective of this study is to reach a better understanding of accidents on Swedish roads involving tractors and to suggest ways of preventing them. In an earlier study we analyzed police-reported fatal accidents and accidents that led to physical injuries from 1992 to 2005. During each year of this period, tractors were involved in 128 traffic accidents on average, an average of 7 people were killed, 44 sustained serious injuries, and 143 sustained slight injuries. The number of fatalities in these tractor accidents was about 1.3% of all deaths in traffic accidents in Sweden. Cars were most often involved in the tractor accidents (58%) and 15% were single vehicle accidents. The mean age of the tractor driver involved was 39.8 years and young drivers (15-24 years) were overrepresented (30%). We are now increasing the data collected with the years 2006-2010 in order to study the changes in the number of accidents. Special attention will be given to the younger drivers and to single vehicle accidents. Based on the results we aim to develop suggestions for reducing road accidents, e.g. including measures for making farm vehicles more visible and improvement of the training provided at driving schools. PMID:22317543

  6. Swedish recommendations on recreational diving and diabetes mellitus.

    PubMed

    Jendle, Johan; Adolfsson, Peter; Ornhagen, Hans

    2012-12-01

    Divers from many countries travel to explore various diving sites worldwide. In 2005, the Divers Alert Network (DAN) wrote guidelines for recreational diving and diabetes mellitus, but there is no up-to-date consensus or adoption of international guidelines on diabetes and diving. There are also large differences between the regulations in different countries. This is potentially both a medical and an insurance problem for a diver with diabetes. We present the current Swedish recommendations for recreational divers with Type 1 diabetes mellitus.

  7. The Analysis Portal and the Swedish LifeWatch e-infrastructure for biodiversity research

    PubMed Central

    Käck, Martin; Karlsson, Björn; Kindvall, Oskar

    2016-01-01

    Abstract Background During the last years, more and more online portals were generated and are now available for ecologists to run advanced models with extensive data sets. Some examples are the Biodiversity Virtual e-Laboratory (BioVel) Portal (https://portal.biovel.eu) for ecological niche modelling and the Mobyle SNAP Workbench (https://snap.hpc.ncsu.edu) for evolutionary and population genetics analysis. Such portals have the main goal to facilitate the run of advanced models, through access to large-capacity computers or servers. In this study, we present the Analysis Portal (www.analysisportal.se), which is a part of the Swedish LifeWatch e-infrastructure for biodiversity research that combines a variety of Swedish web services to perform different kinds of dataprocessing. New information For the first time, the Swedish Analysis Portal for integrated analysis of species occurrence data is described in detail. It was launched in 2013 and today, over 60 Million Swedish species observation records can be assessed, visualized and analyzed via the portal. Datasets can be assembled using sophisticated filtering tools, and combined with environmental and climatic data from a wide range of providers. Different validation tools, for example the official Swedish taxon concept database Dyntaxa, ensure high data quality. Results can be downloaded in different formats as maps, tables, diagrams and reports. PMID:27099553

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

    PubMed Central

    Aretz, S; Stienen, D; Uhlhaas, S; Stolte, M; Entius, M M; Loff, S; Back, W; Kaufmann, A; Keller, K‐M; Blaas, S H; Siebert, R; Vogt, S; Spranger, S; Holinski‐Feder, E; Sunde, L; Propping, P; Friedl, W

    2007-01-01

    Background In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. Methods Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical criteria for JPS (typical JPS) and 15 were 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 of the PTEN gene in the remaining 41 mutation negative cases uncovered a point mutation in two patients (5%). SMAD4 mutation carriers had a significantly higher frequency of gastric polyposis (73%) than did patients with BMPR1A mutations (8%) (p<0.001); all seven cases of gastric cancer occurred in families with SMAD4 mutations. SMAD4 mutation carriers with gastric polyps were significantly older at gastroscopy than those without (p<0.001). In 22% of the 23 unrelated SMAD4 mutation carriers, hereditary hemorrhagic telangiectasia (HHT) was also diagnosed clinically. The documented histologic findings encompassed a wide distribution of different polyp types, comparable with that described in hereditary mixed polyposis syndromes (HMPS). Conclusions Screening for large deletions raised the mutation detection rate to 60% in the 65 patients with typical JPS. A strong genotype‐phenotype correlation for gastric 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. PMID:17873119

  9. Swedish consumers' cognitive approaches to nutrition claims and health claims

    PubMed Central

    Svederberg, Eva; Wendin, Karin

    2011-01-01

    Introduction and Aim Studies show frequent use of nutrition claims and health claims in consumers' choice of food products. The aim of the present study was to investigate how consumers' thoughts about these claims and food products are affected by various types of food-related experiences. Material and Methods The data collection comprised 30 individual interviews among Swedish consumers aged 25 to 64 years. Results The results indicated that participants who expressed special concern for their own and their families' health were eager to find out the meaning of concepts and statements made. A lack of understanding and lack of credibility of concepts and expressions often caused suspicion of the product. However, in some cases this was counterbalanced by confidence in manufacturers, retailers, and/or the Swedish food legislation. Discussion and Conclusion To achieve effective written communication of food products' health-conducive properties on food labels, there is a need to consider the importance many consumers attach to understanding the meaning of concepts and expressions used and the importance of credibility in certain expressions. Consumers' varying cognitive approaches are suggested as a basis for pre-tests of nutrition claims and health claims. PMID:21448438

  10. Redistributive effects of Swedish health care finance.

    PubMed

    Gerdtham, U G; Sundberg, G

    1998-01-01

    This paper investigates the redistributive effects of the Swedish health care financing system in 1980 and 1990 for four different financial sources: county council taxes, payroll taxes, direct payments and state grants. The redistributive effects are decomposed into vertical, horizontal and 'reranking' segments for each of the four financial sources. The data used are based on probability samples of the Swedish population, from the Level of Living Survey (LNU) from 1981 and 1991. The paper concludes that the Swedish health care financing system is weakly progressive, although direct payments are regressive. There is some horizontal inequity and 'reranking', which mainly comes from the county council taxes, since those tax rates vary for each county council. The implication is that, to some extent, people with equal incomes are treated unequally.

  11. Cause for Concern or Moral Panic? The Prospects of the Swedish Mods in Retrospect

    ERIC Educational Resources Information Center

    Alm, Susanne; Nilsson, Anders

    2011-01-01

    The Swedish mods of the 1960s frightened the parental generation like few other youth cultures. Was the concern justified--was the mod culture a hotbed of social maladjustment? Or would the mods come to live conventional lives to the same extent as their peers? We present analyses from a large longitudinal study allowing for a follow-up of…

  12. Governing by Partnerships: Dilemmas in Swedish Education Policy at the Turn of the Millennium

    ERIC Educational Resources Information Center

    Dahlstedt, Magnus

    2009-01-01

    In recent years, governing through partnerships has become more and more common and is today reflected in a range of policy areas. In the following article, governing through partnerships is analysed in Swedish education policy around the turn of the millennium, where the notion of partnership has had a large impact. Using as its point of…

  13. Paradoxes of Solidarity: Democracy and Colonial Legacies in Swedish Popular Education

    ERIC Educational Resources Information Center

    Dahlstedt, Magnus; Nordvall, Henrik

    2011-01-01

    Over the years, there have been several attempts to spread the "Swedish model" of popular education, that is, study circles and folk high schools, to countries in other parts of the world. In this article, the authors analyze the large-scale project of establishing folk development colleges in Tanzania in the 1970s and 1980s, by emphasizing the…

  14. Comparison of Topic Organization in Finnish, Swedish-Finnish, and Swedish Family Discourse

    ERIC Educational Resources Information Center

    Tryggvason, Marja-Terttu

    2004-01-01

    The purpose of this study was to examine whether there are cultural differences in topic organization and role-related topic control in dinner conversations; such differences may function as a means for socialization into communicative styles. The research was designed as a comparative study of two geographically close but linguistically very…

  15. Integration of ethnic food into Swedish food rituals. The cultural fitness of tacos.

    PubMed

    Solér, Cecilia; Plazas, Maite Creixell

    2012-06-01

    This paper explores the meaning of the Mexican dish tacos for Swedish consumers. As such, this study examines the relationship between ethnic food and food culture in light of contemporary changing food rituals. The results reveal that the Swedish food ritual of Friday dinner can be enacted through eating tacos. Friday dinner is a point in time and space at which family members gather, after a busy week following divergent schedules that keep them from eating together, and to which children's food preferences are central. Tacos fulfil all the requirements for a quick-to-cook yet social dish that enables hardworking but time-constrained families to eat together. The much-debated informal and fragmented character of food consumption in contemporary society is accommodated in the taco meal.

  16. The Genetic Structure of the Swedish Population

    PubMed Central

    Humphreys, Keith; Grankvist, Alexander; Leu, Monica; Hall, Per; Liu, Jianjun; Ripatti, Samuli; Rehnström, Karola; Groop, Leif; Klareskog, Lars; Ding, Bo; Grönberg, Henrik; Xu, Jianfeng; Pedersen, Nancy L.; Lichtenstein, Paul; Mattingsdal, Morten; Andreassen, Ole A.; O'Dushlaine, Colm; Purcell, Shaun M.; Sklar, Pamela; Sullivan, Patrick F.; Hultman, Christina M.; Palmgren, Juni; Magnusson, Patrik K. E.

    2011-01-01

    Patterns of genetic diversity have previously been shown to mirror geography on a global scale and within continents and individual countries. Using genome-wide SNP data on 5174 Swedes with extensive geographical coverage, we analyzed the genetic structure of the Swedish population. We observed strong differences between the far northern counties and the remaining counties. The population of Dalarna county, in north middle Sweden, which borders southern Norway, also appears to differ markedly from other counties, possibly due to this county having more individuals with remote Finnish or Norwegian ancestry than other counties. An analysis of genetic differentiation (based on pairwise Fst) indicated that the population of Sweden's southernmost counties are genetically closer to the HapMap CEU samples of Northern European ancestry than to the populations of Sweden's northernmost counties. In a comparison of extended homozygous segments, we detected a clear divide between southern and northern Sweden with small differences between the southern counties and considerably more segments in northern Sweden. Both the increased degree of homozygosity in the north and the large genetic differences between the south and the north may have arisen due to a small population in the north and the vast geographical distances between towns and villages in the north, in contrast to the more densely settled southern parts of Sweden. Our findings have implications for future genome-wide association studies (GWAS) with respect to the matching of cases and controls and the need for within-county matching. We have shown that genetic differences within a single country may be substantial, even when viewed on a European scale. Thus, population stratification needs to be accounted for, even within a country like Sweden, which is often perceived to be relatively homogenous and a favourable resource for genetic mapping, otherwise inferences based on genetic data may lead to false conclusions

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

    PubMed

    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.

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

    PubMed

    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. PMID:24019357

  19. Ambassadors of the Swedish Nation: National Images in the Teaching of the Swedish Lecturers in Germany 1918-1945

    ERIC Educational Resources Information Center

    Åkerlund, Andreas

    2015-01-01

    This article analyses the teaching of Swedish language lecturers active in Germany during the first half of the twentieth century. It shows the centrality of literature and literary constructions and analyses images of Swedishness and the Swedish nation present in the teaching material of that time in relation to the national image present in…

  20. The assassination of the Swedish Minister for Foreign Affairs.

    PubMed

    Unsgaard, Edvard; Meloy, J Reid

    2011-03-01

    On September 10, 2003, Anna Lindh, the Swedish Minister for Foreign Affairs, was assassinated. The offender, a 24-year-old man, was a socially isolated, culturally and familially dislocated, yet academically quite competent young man who became enthralled with the habitual criminality of some of his relatives and their associates, and then psychiatrically decompensated in his early twenties. He had a history of serious violence before the crime, including the gross assault with a knife of his alcoholic and abusive father when he was 17, stalking, and extortion. At least a year prior to the assassination, he confided to a friend his desire to attack someone famous in front of many people. A definitive motive for the crime was not possible to establish. This was an act of intended, yet opportunistic violence toward a national political figure. The dynamics of the case are placed in the context of other attacks on Western European and U.S. politicians.

  1. Leisure, Government and Governance: A Swedish Perspective

    ERIC Educational Resources Information Center

    Lindstrom, Lisbeth

    2011-01-01

    The leisure sector has witnessed a tremendous expansion since 1960. The purpose of this article is to analyse the decisions and goals of Swedish government policy during the period 1962 to 2005. The empirical analysis covers government Propositions and governmental investigations. The fields covered are sports, culture, exercise, tourism and…

  2. Training Entrepreneurship at Universities: A Swedish Case.

    ERIC Educational Resources Information Center

    Klofsten, Magnus

    2000-01-01

    The Entrepreneurship and New Business Development Program trains Swedish individuals in the startup of technology- or knowledge-based enterprises. Built on the characteristics of entrepreneurial behavior, the program features a holistic outlook, a network of established entrepreneurs, mentoring, a mix of theory and practice, and focus on the…

  3. Evaluation of Swedish Youth Labor Market Programs.

    ERIC Educational Resources Information Center

    Larsson, Laura

    2003-01-01

    Nonparametric matching was used to estimate the effects of two Swedish youth employment programs: youth practice (subsidized work experience, n=1,657) and labor market training (n=606). Results indicate either zero or negative effects on earnings, employment probability, or probability of entering an education program in the short term. Youth…

  4. Mathematics and Didactic Contract in Swedish Preschools

    ERIC Educational Resources Information Center

    Delacour, Laurence

    2016-01-01

    The purpose of this article is to study and analyse how a teacher implements an outdoor realistic problem situation for children aged 4-5 in a Swedish preschool. By an "outdoor realistic problem situation", I mean a situation initiated by a teacher in which children come into contact with mathematical concepts and in which the outside…

  5. ADULT EDUCATION AND SWEDISH POLITICAL LEADERSHIP.

    ERIC Educational Resources Information Center

    ERICKSON, HERMAN

    IN AN ATTEMPT TO EVALUATE THE INFLUENCE OF ADULT EDUCATION ON SWEDISH POLITICAL LEADERSHIP AND ON SOCIAL AND ECONOMIC PROGRESS IN A DEMOCRATIC SOCIETY, INFORMATION WAS GATHERED ON THE EDUCATION OF POLITICAL AND LABOR LEADERS. AMONG MEMBERS OF PARLIAMENT, 66 PERCENT OF THE TOTAL, 79 PERCENT OF THE SOCIAL DEMOCRATS, 87 PERCENT OF AGRARIANS, 41…

  6. New Trends in Swedish Educational Research

    ERIC Educational Resources Information Center

    Englund, Tomas

    2006-01-01

    What new tendencies can be made out in Swedish educational research in the last three decades? Briefly, the following developments are described: In the 1970s, a long-prevailing emphasis on quantitative research was challenged by a number of different qualitative methods. Traditional sociology of education, meanwhile, was challenged by the new…

  7. Science communication and the Swedish acrylamide "alarm".

    PubMed

    Lofstedt, Ragnar E

    2003-01-01

    On April 24, 2002 the Swedish National Food Administration along with a group of researchers at the University of Stockholm raised an alarm regarding potential health risks associated with eating fried and baked foods such as potatoes and bread. Scientists had found high levels of acrylamide (up to 500 times more acrylamide than that allowed in drinking water by the World Health Organisation), a substance widely believed to cause cancer, in cooked high starch foods. The outcomes of this "alarm" were immediate. In Sweden sales of chips fell by 30-50 percent over a 3-day period following the press conference, and share prices among several fried food manufacturers fell substantially, as stock analysts were fearful that consumption of fried foods would decrease significantly. Four days after the press conference, however, consumers began eating fried food as normal and a number of researchers and journalists in Sweden and elsewhere took the view that the alarm had been both exaggerated and ill placed. In this study, I evaluate the science communication process associated with the scare, based on a content analysis of a select group of Swedish broad sheets from just previous to the April 2002 press conference to the present time (December 2002). In addition, the study is based on interviews with the various Swedish regulators involved in the process itself (in particular at the Swedish National Food Administration) as well as with the scientists responsible for the study at Stockholm University and relevant journalists and politicians.

  8. The Widening Gap--A Swedish Perspective

    ERIC Educational Resources Information Center

    Brandell, Gerd; Hemmi, Kristi; Thunberg, Hans

    2008-01-01

    Transition problems from secondary to tertiary level in mathematics have been a recurrent issue in Sweden. This paper summarises the development during the last decades. Results from two recent research studies that illuminate the transition problem are presented. The first one, based on empirical data from a major Swedish technical university,…

  9. Are Boys Discriminated in Swedish High Schools?

    ERIC Educational Resources Information Center

    Hinnerich, Bjorn Tyrefors; Hoglin, Erik; Johannesson, Magnus

    2011-01-01

    Girls typically have higher grades than boys in school and recent research suggests that part of this gender difference may be due to discrimination of boys in grading. We rigorously test this in a field experiment where a random sample of the same tests in the Swedish language is subject to blind and non-blind grading. The non-blind test score is…

  10. Measuring Syntactic Complexity in Spontaneous Spoken Swedish

    ERIC Educational Resources Information Center

    Roll, Mikael; Frid, Johan; Horne, Merle

    2007-01-01

    Hesitation disfluencies after phonetically prominent stranded function words are thought to reflect the cognitive coding of complex structures. Speech fragments following the Swedish function word "att" "that" were analyzed syntactically, and divided into two groups: one with "att" in disfluent contexts, and the other with "att" in fluent…

  11. Survey of Foreigners' Pronunciation Problems in Swedish.

    ERIC Educational Resources Information Center

    Bannert, Robert

    This paper reports results of an analysis of pronunciation problems and error patterns in the recorded speech of 38 immigrants to Sweden. The recordings, of both spontaneous and elicited speech in Swedish, were taken from an archival collection. The native-language groups studied include British English, Spanish, Polish, Finnish, Greek, Persian,…

  12. Mapping of a possible X-linked form of familial developmental dysphasia (FDD) in a single large pedigree

    SciTech Connect

    Dunne, P.W.; Doody, R.S.; Epstein, H.F.

    1994-09-01

    Children diagnosed with developmental dysphasia develop speech very late without exhibiting sensory or motor dysfunction, and when they do begin to speak their grammar is abnormal. A large three-generation British pedigree was recently identified in which 16 out of 30 members were diagnosed as dysphasic. Assuming a dominant mode of inheritance with homogeneous phenotypic expression and complete penetrance among affected members, we showed by simulation analysis that this pedigree has the power to detect linkage to marker loci with an average maximum LOD score of 3.67 at {theta}=0.1. Given the absence of male-to-male transmission and a ratio of female to male affecteds (10/6) in this pedigree within the expected range for an X-linked dominant mode of inheritance, we decided to begin a genome-wide linkage analysis with microsatellite markers on the human X chromosome. Fifteen individuals (10 affected) from three generations were genotyped with 35 polymorphic STS`s (Research Genetics) which were approximately uniformly distributed along the X chromosome. Two-point linkage was assessed using the MLINK and ILINK programs from the LINKAGE package. Markers DXS1223, DXS987, DXS996 and DXS1060 on Xp22 showed consistent linkage to the disease locus with a maximum LOD score of 0.86 at a distance of 22 cM for DXS1060. If further analysis with additional markers and additional family members confirms X-linkage, such a localization would provide support for Lehrke`s hypothesis for X-linkage of major intellectual traits including verbal functioning.

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

    PubMed Central

    Steiner, Hillel A.; Uradu, Andrea; Lynnes, Ty C.; Groh, William J.; Miller, John M.; Lin, Hai; Gao, Hongyu; Wang, Zhiping; Liu, Yunlong; Chen, Peng-Sheng; Vatta, Matteo

    2015-01-01

    Background 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. Materials and Methods 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. Results 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. Conclusion 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. PMID:26636822

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

    PubMed

    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

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

    PubMed

    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

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

    PubMed Central

    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

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

    ERIC Educational Resources Information Center

    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…

  18. Removal of estrogenicity in Swedish municipal sewage treatment plants.

    PubMed

    Svenson, Anders; Allard, Ann Sofie; Ek, Mats

    2003-11-01

    The human estrogen receptor alpha-test, hosted in a yeast strain, was used to quantify estrogenicity in three-week composite samples of untreated and treated effluents from 20 Swedish municipal sewage treatment plants. The treatment plants were selected to represent different treatment processes regarding chemical precipitation and microbial procedures. The discharge from Swedish domestic sewage treatment plants contained estrogenic compounds corresponding to <0.1-15 ng estradiol equivalents/L. Low levels of estrogenic activity were also found in a river receiving municipal effluents, 3.5-35 km downstream the outlet from a sewage treatment works. The range of estrogenicity in untreated, raw sewage effluents was found to be 1-30 ng estradiol equivalents/L. Generally, wastewater treatment reduced the estrogenicity and extended biological treatment was most effective in its removal. Activated sludge treatment tended to be more effective than trickling filters, whereas chemical precipitation using iron or aluminium salts without biological treatment showed little effectivity. The study showed that treatment methods in current use are able to eliminate or largely reduce estrogenicity in domestic wastewater. PMID:14511714

  19. Nonword repetition--a clinical marker for specific language impairment in Swedish associated with parents' language-related problems.

    PubMed

    Kalnak, Nelli; Peyrard-Janvid, Myriam; Forssberg, Hans; Sahlén, Birgitta

    2014-01-01

    First, we explore the performance of nonword repetition (NWR) in children with specific language impairment (SLI) and typically developing children (TD) in order to investigate the accuracy of NWR as a clinical marker for SLI in Swedish-speaking school-age children. Second, we examine the relationship between NWR, family aggregation, and parental level of education in children with SLI. A sample of 61 children with SLI, and 86 children with TD, aged 8-12 years, were administered an NWR test. Family aggregation, measured as the prevalence of language and/or literacy problems (LLP) in parents of the children with SLI, was based on family history interviews. The sensitivity and specificity of nonword repetition was analyzed in a binary logistic regression, cut-off values were established with ROC curves, and positive and negative likelihood ratios reported. Results from the present study show that NWR distinguishes well between Swedish-speaking school-children with and without SLI. We found 90.2% sensitivity and 97.7% specificity at a cut-off level of -2 standard deviations for binary scoring of nonwords. Differences between the SLI and TD groups showed large effect sizes for the two scoring measures binary (d = 2.11) and percent correct consonants (PCC) (d = 1.79). The children with SLI were split into two subgroups: those with no parents affected with LLP (n = 12), and those with one or both parents affected (n = 49). The subgroup consisting of affected parents had a significantly lower score on NWR binary (p = .037), and there was a great difference between the subgroups (d = 0.7). When compared to the TD group, the difference from the subgroup with affected parents was almost one standard deviation larger (d = 2.47) than the difference from the TD to the subgroup consisting of non-affected parents (d = 1.57). Our study calls for further exploration of the complex interaction between family aggregation, language input, and phenotypes

  20. Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.

    PubMed Central

    Lester, D H; Inglehearn, C F; Bashir, R; Ackford, H; Esakowitz, L; Jay, M; Bird, A C; Wright, A F; Papiha, S S; Bhattacharya, S S

    1990-01-01

    Recently Dryja and his co-workers observed a mutation in the 23d codon of the rhodopsin gene in a proportion of autosomal dominant retinitis pigmentosa (ADRP) patients. Linkage analysis with a rhodopsin-linked probe C17 (D3S47) was carried out in two large British ADRP families, one with diffuse-type (D-type) RP and the other with regional-type (R-type) RP. Significantly positive lod scores (lod score maximum [Zmax] = +5.58 at recombination fraction [theta] = .0) were obtained between C17 and our D-type ADRP family showing complete penetrance. Sequence and oligonucleotide analysis has, however, shown that no point mutation at the 23d codon exists in affected individuals in our complete-penetrance pedigree, indicating that another rhodopsin mutation is probably responsible for ADRP in this family. Significantly negative lod scores (Z less than -2 at theta = .045) were, however, obtained between C17 and our R-type family which showed incomplete penetrance. Previous results presented by this laboratory also showed no linkage between C17 and another large British R-type ADRP family with incomplete penetrance. This confirms genetic heterogeneity. Some types of ADRP are being caused by different mutations in the rhodopsin locus (3q21-24) or another tightly linked gene in this region, while other types of ADRP are the result of mutations elsewhere in the genome. Images Figure 2 Figure 3 Figure 4 PMID:2393026

  1. Comparison and significance of auroral studies during the Swedish and Russian bilateral expedition to Spitsbergen in 1899-1900

    NASA Astrophysics Data System (ADS)

    Chernouss, S.; Sandahl, I.

    2008-05-01

    Results of measurements and visual observations of aurora at Spitsbergen, carried out by the joint Swedish-Russian expedition during 1899-1900, are described. Auroral observations took place during the great bilateral Arc-of-Meridian expedition, which was patronized by the Swedish Royal Family and the Russian Imperial Family. The Russian-Swedish Arc-of-Meridian measurements were closely coordinated but auroral measurements from the two sites in the Spitsbergen Archipelago were almost independent of each other. The basic auroral data for our presentation are reports of the Russian astronomer Josef Sykora and the Swedish geophysicist Jonas Westman. Both scientists used similar types of photo cameras and spectrographs, which were the best at that time and were made in Potsdam by Toepfer. Detailed descriptions of the optical devices and the system of spectral calibration are presented. A Toepfer spectrograph, possibly the one used by Westman, is still kept at IRF in Kiruna. We present a comparative analysis of auroral data from the Russian and Swedish stations on three themes: visual observations of aurora, describing features of auroral forms and giving us statistical data on aurora occurrence and the heights of aurora, photos of aurora, and auroral spectra. It is shown that the observations contain enough data to construct an auroral oval and to determine the heights of aurora. The expedition obtained the first photographic observations of the aurora in the Arctic. The auroral spectra demonstrate a high spectral resolution and show not only the main auroral emissions in the blue-green spectral range but also some weak emissions in the violet and ultraviolet region. All data are interpreted from a modern point of view. The Russian-Swedish 1899-1900 expedition carried out the first complex auroral investigations in the Arctic using optical instruments and presented well documented data and new results.

  2. Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations.

    PubMed

    Tillmar, Andreas O; Coble, Michael D; Wallerström, Thomas; Holmlund, Gunilla

    2010-03-01

    In order to promote mitochondrial DNA (mtDNA) testing in Sweden we have typed 296 Swedish males, which will serve as a Swedish mtDNA frequency database. The tested males were taken from seven geographically different regions representing the contemporary Swedish population. The complete mtDNA control region was typed and the Swedish population was shown to have high haplotype diversity with a random match probability of 0.5%. Almost 47% of the tested samples belonged to haplogroup H and further haplogroup comparison with worldwide populations clustered the Swedish mtDNA data together with other European populations. AMOVA analysis of the seven Swedish subregions displayed no significant maternal substructure in Sweden (F (ST) = 0.002). Our conclusion from this study is that the typed Swedish individuals serve as good representatives for a Swedish forensic mtDNA database. Some caution should, however, be taken for individuals from the northernmost part of Sweden (provinces of Norrbotten and Lapland) due to specific demographic conditions. Furthermore, our analysis of a small sample set of a Swedish Saami population confirmed earlier findings that the Swedish Saami population is an outlier among European populations.

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

    PubMed

    Rudkjøbing, Laura Aviaja; Eiberg, Hans; Mikkelsen, Hanne Birte; Binderup, Marie Louise Mølgaard; Bisgaard, Marie Luise

    2015-09-01

    Hereditary colorectal cancer accounts for approximately 30% of all colorectal cancers, but currently only 5% of these families can be explained by highly penetrant, inherited mutations. In the remaining 25% it is not possible to perform a gene test to identify the family members who would benefit from prophylactic screening. Consequently, all family members are asked to follow a screening program. The purpose of this study was to localize a new gene which causes colorectal cancer. We performed a linkage analysis using data from a SNP6.0 chip in one large family with 12 affected family members. We extended the linkage analysis with microsatellites (STS) and single nucleotide polymorphisms (SNP's) and looked for the loss of heterozygosity in tumour tissue. Furthermore, we performed the exome sequencing of one family member and we sequenced candidate genes by use of direct sequencing. Major rearrangements were excluded after karyotyping. The linkage analysis with SNP6 data revealed three candidate areas, on chromosome 2, 6 and 11 respectively, with a LOD score close to two and no negative LOD scores. After extended linkage analysis, the area on chromosome 6 was excluded, leaving areas on chromosome 2 and chromosome 11 with the highest possible LOD scores of 2.6. Two other studies have identified 11q24 as a candidate area for colorectal cancer susceptibility and this area is supported by our results. PMID:25724759

  4. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.

    PubMed

    James, Paul A; Sawyer, Sarah; Boyle, Samantha; Young, Mary-Anne; Kovalenko, Serguei; Doherty, Rebecca; McKinley, Joanne; Alsop, Kathryn; Beshay, Victoria; Harris, Marion; Fox, Stephen; Lindeman, Geoffrey J; Mitchell, Gillian

    2015-06-01

    Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred hereditary breast and ovarian cancer (HBOC) families. Data from some series suggest LGRs represent particularly penetrant mutations. 1,034 index cases from HBOC families underwent comprehensive BRCA1 and BRCA2 mutation testing, including screening for LGRs. The personal and family history of 254 identified mutation carriers were compared based on mutation type. Thirty-six LGRs were detected; 32/122 (26%) BRCA1 and 4/132 (3%) BRCA2 mutations. High risk features (bilateral breast cancer, diagnosis <40 years, ovarian cancer, male breast cancer) were more commonly associated with an LGR than a non-LGR mutation (p = 0.008), In families with a BRCA1 LGR the mean age of breast cancer diagnosis was younger than in families with a non-LGR BRCA1 mutation (42.5 vs. 46.1 years, p = 0.007). Across the entire group of mutation positive families the number of relatives affected by breast or ovarian cancer was increased [LGR 3.7 vs. non- LGR 2.8 per family, p value (adjusted for genotype) = 0.047]. Excluding index cases, the odds ratio for breast cancer in BRCA1 families with an LGR was 1.42 (95% CI 1.24-1.63) and for ovarian cancer 1.66 (95% CI 1.10-2.49). The increased cancer risk was reflected in significantly higher risk assessments by mutation prediction tools. LGRs are associated with higher cancer risks. If validated, LGRs could be included in cancer risk prediction tools to improve personalised cancer risk prediction estimates and may guide cost-minimising mutation screening strategies in some healthcare settings.

  5. Providing maternal and child health-family planning services to a large rural population: results of the Bohol Project, Philippines.

    PubMed Central

    Williamson, N E; Parado, J P; Maturan, E G

    1983-01-01

    The Bohol Project (1975-1979) sought to improve maternal and child health and to increase the use of family planning among a rural Philippine population of 400,000. Research indicated that maternal and child health (MCH) services did become more available during the Project period and coverage of the priority populations improved. Family planning (FP) use, particularly of less effective methods, increased and fertility declined although some change could have been expected even without the Project. Deaths due to neonatal tetanus were almost eliminated by mortality rates did not decline for a number of reasons, including the fact that services were probably not tailored closely enough to local health problems, especially respiratory diseases. The Project showed that it was possible to increase health and family planning services by using low-cost strategies (such as setting up community drug stores) and by employing paramedical workers, in this case, midwives. Preventive MCH-FP services were not overwhelmed by curative services as had been feared. Perhaps the most significant contributions of the Project were the lessons learned about delivering health and family planning services and conducting evaluation research. In general, if developing countries could maintain well-evaluated field laboratories for working out health and family planning delivery approaches before going nationwide, it is likely that time and money would be saved in the long run. PMID:6848001

  6. Swedish nuclear dilemma: Energy and the environment

    SciTech Connect

    Nordhaus, W.D.

    1997-01-01

    One of the things that makes life both very frustrating and also very interesting is that accomplishing one objective frequently means backpedaling on another. Since economics is the study of tradeoffs, this means that there is generally plenty for economists to do. William Nordhaus is one of the best economists anywhere, and he has written a wonderful book about the tradeoffs faced by one country--Sweden--if and as it acts on a decision its citizens made in 1980 to phase out the use of nuclear power there. The author adds that this decision has been reaffirmed by the Swedish Parliament on several occasions since the 1980 referendum, though with some elusive qualifications. What will be both the environmental and also the economic implications of a Swedish phaseout of the use of nuclear power to generate electricity there. These are the two issues Nordhaus addresses in this book.

  7. Research on Swedish earthquakes 1980 - 1981

    NASA Astrophysics Data System (ADS)

    Slunga, R.

    1982-11-01

    The research on Swedish earthquakes, recorded December 1979-1981 by the digital seismic network in Southern Sweden operated by National Defence Research Institute (FOA) is reported. The high-quality earthquake data produced by this network allows source inversion of all recorded earthquakes. A method based on both first-motion polarities and spectral amplitudes is presented. Besides the fault-plane solution and the seismic moment, also corner frequencies, fault dimensions, stress drops, and peak slip displacements are determined for 53 Swedish earthquakes. Epicentral ground motion is studied and a relation for a two-parametric scaling (seismic moment and stress drop) of the earthquake is proposed and applied to the bedrock peak accelerations. An NW-SE horizontal compression is indicated by the source mechanisms. Quite often, surface topographic lineaments are consistent with the fault-plane solutions. The frequency, epicentral and depth distribution, and peak accelerations are in agreement with previous studies on seismic risk.

  8. Managing parental groups during early childhood: New challenges faced by Swedish child health-care nurses.

    PubMed

    Lefèvre, Åsa; Pia, Lundqvist; Eva, Drevenhorn; Inger, Hallström

    2015-09-01

    The purpose of this study was to describe child health centre (CHC) nurses' views of managing parental groups during early childhood. All 311 CHC nurses working within the Swedish CHC system in one county were asked to complete a web-based questionnaire. Findings showed that although the CHC nurses were experienced, several found group leadership challenging and difficult. The need for specialized groups for young parents, single parents and parents whose first language was not Swedish was identified by 57% of the nurses. The CHC nurses found the participation of fathers in their parental groups to be low (an estimate of 10-20%), and 30% of the nurses made special efforts to make the fathers participate. Education in group dynamics and group leadership can strengthen CHC nurses in managing parental groups. It is recommended that specialized parental groups are organized by a few family centres so CHC nurses can develop their skill in managing such groups.

  9. Burnout among foreign-born and native Swedish women: a longitudinal study.

    PubMed

    Sundin, Örjan; Soares, Joaquim; Grossi, Georgio; Macassa, Gloria

    2011-11-01

    The authors of this study addressed burnout experiences (generally defined as chronic depletion of an individual's energetic resources') over time in relation to other factors (e.g., distress, sleep difficulties, job demands, etc.) among foreign-born women and Swedish native women living in Stockholm. The study design was a longitudinal panel survey with two waves one year apart. In the first wave, 3,616 of 6,000 randomly selected women took part, and 2,300 of the initial 3,616 women also participated in the second wave; 427 were foreign-born women, and 1,873 were Swedish native women. Baseline/emerging distress, emerging sleep difficulties, worsening general social support, job demands at baseline/escalating during the assessment period, emerging unemployment, constraints in social support at work, and sustained/emerging financial strain were associated with future burnout, regardless of background. More foreign-born women than Swedish native women reported burnout, with these differences maintained at one-year follow-up. The factors related to burnout were largely the same in both groups, but smoking and cardiovascular disease were related to burnout only among foreign-born women. Younger age, job demands, and working hours were associated with burnout among Swedish native women. The authors found that the women had concurrent problems such as burnout, distress, and sleep problems, but foreign background was not independently related to burnout.

  10. Swedish perspective. [Bulk power transactions and pricing

    SciTech Connect

    Larsson, S.

    1994-12-01

    In line with the worldwide trend in many developed countries, the power industry in Sweden is subject to a reformation in the direction of deregulation and increased competition. In late May 1994, the Swedish Parliament passed the new Electricity Act, which is to be instrumental from Jan. 1995. This paper discusses the new legislation, general tariff structures, national grid tariff structure, operational implications, and harmonizing rules.

  11. Four themes in recent Swedish bioethics debates.

    PubMed

    Helgesson, Gert; Eriksson, Stefan

    2011-07-01

    A wide variety of bioethical themes have recently been debated and researched in Sweden, including genetic screening, HPV vaccination strategies, end-of-life care, injustices and priority setting in healthcare, dual-use research, and the never-ending story of scientific fraud. Also, there are some new events related to Swedish biobanking that might be of general interest. Here we will concentrate on four themes: end-of-life care, dual-use research, scientific fraud, and biobanking. PMID:21676328

  12. Parental Participation and Retention in an Alcohol Preventive Family-Focused Programme

    ERIC Educational Resources Information Center

    Skarstrand, Eva; Branstrom, Richard; Sundell, Knut; Kallmen, Hakan; Andreassen, Sven

    2009-01-01

    Purpose: The purpose of this paper is to examine factors predicting parental participation and retention in a Swedish version of the Strengthening Families Programme (SFP). Design/methodology/approach: This study is based on data from a randomised controlled trial to evaluate the effects of the Swedish version of the SFP. The sample involves 441…

  13. Association between Secondary and Primary Sjögren's Syndrome in a Large Collection of Lupus Families

    PubMed Central

    Aggarwal, Rachna; Anaya, Juan-Manuel; Koelsch, Kristi A.; Kurien, Biji T.; Scofield, R. Hal

    2015-01-01

    Objective. Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) share clinical and immunogenetic features and may occur together. We undertook this study to determine the risk of primary SS among SLE-unaffected relatives of SLE patients and whether or not primary and secondary SS tended to occur in the same families. Methods. We collected clinical and serological data on 2694 SLE patients, 7390 SLE-unaffected relatives of the SLE patients, and 1470 matched controls. Results. Of the 2694 subjects with SLE, 548 had secondary SS, while 71 of their 7390 SLE-unaffected relatives had primary SS. None of the 1470 controls had SS as defined herein (p = 5 × 10−5 compared to SLE-unaffected relatives). Of the 71 SLE-unaffected relatives with primary SS, 18 (25.3%) had an SLE-affected family member with secondary SS, while only 530 of the 7319 (7.2%) SLE-unaffected relatives without SS did so (p = 1 × 10−8). Conclusion. Among families identified for the presence of SLE, primary and secondary SS tend to occur within the same families. These results highlight the commonalities between these two forms of SS, which in fact correspond to the same disease. PMID:26246904

  14. Swedish scientists take acid-rain research to developing nations

    SciTech Connect

    Abate, T.

    1995-12-01

    In the realm of acid-rain research, Sweden looms large on the world stage. It is the country where scientists first proved more than 30 years ago that airborne chemicals could and did cross international boundaries to acidify lakes and forests far from where the pollution was generated. Now, Swedish scientists are leading an international effort to map acid-rain patterns in the developing countries of Asia, where new industrial activity seems to be recreating problems that European and North American policy makers have already taken steps to solve. Topics covered in this article include acid rain on the rise in Asia; visualizing and validating the data; funding as the key to steady research.

  15. Silencing of voices in a Swedish science classroom

    NASA Astrophysics Data System (ADS)

    Ramos de Robles, S. Lizette

    2016-09-01

    From a sociocultural perspective, I discuss data from a Swedish science classroom presented in María Gómez's article "Student Explanations of their Science Teachers' Assessments, Grading Practices, and How they learn Science". In this discussion, I focus on the need to change existing conceptions of assessment in the teaching and learning of science. Next, I talk about the importance of taking into consideration the dialectic between agency and passivity as filters in order to understand what student silence may signify in science classes as well as in relation to their perceptions of assessment. I conclude with the importance of the teacher's role in developing formative assessment, along with the challenges in developing assessments which transform science education into a relevant field of knowledge for both students and society at large.

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

    PubMed Central

    2013-01-01

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

  17. Clinical variability of the cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in two siblings of a large family showing the same mutation

    PubMed Central

    Vyshka, Gentian; Kruja, Jera

    2013-01-01

    A 44-year-old Albanian male was consulted and diagnosed with dementia. His magnetic resonance imaging suggested diffuse white matter changes. The suspicion of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was raised, and a genetic analysis confirmed such a suspicion through uncovering a pathogenic mutation at the level of exon 4 (c.475C>T) of chromosome 19. The patient came from a large family of 13 children, all of whom underwent clinical, genetic, and imaging examination. The pathogenic mutation was found present only in his eldest sister (50 years old), and she presented also very suggestive signs of CADASIL in her respective imaging study, but without any clinically significant counterpart. All other siblings were free from clinical and radiological signs of the disorder. Our opinion was that we were dealing with a mutation showing a very low level of penetrance, with only two siblings affected in a large Albanian family with 13 children. PMID:24124395

  18. Total care for juvenile diabetics--a Swedish experiment.

    PubMed

    Larsson, Y

    1983-01-01

    A Swedish Study Group for Childhood Diabetes has recently prepared a national treatment and care programme for diabetes in children and adolescents, which is briefly presented in this paper. The programme is based on the working hypothesis that long-term vascular and neurological complications - still the most serious threats to the well-being and survival of juvenile diabetics - may be prevented by continuously maintaining a normal or near-normal blood glucose level. Four levels (I--IV) of metabolic control are being defined, of which level I is the optimal goal and level II acceptable, while levels III and IV are regarded as inadequate. To achieve a satisfactory therapeutic result great efforts are required by both patients and the diabetic health teams at the pediatric clinics. In addition to insulin, diet and exercise, great emphasis should be laid on home-monitoring of blood glucose and glycosuria, on patient education and on psychological support both to the children and to their families. The therapeutic team should understand the psychological problems which frequently occur in diabetic families and be able to guide them through the different stages of the disease until the patients reach psychosocial maturity. The programme thus aims at providing a total - biological, functional, emotional and social - care for diabetic children and adolescents, and at thereby improving their quality of life on a long-term basis.

  19. Combining comparative sequence and genomic data to ascertain phylogenetic relationships and explore the evolution of the large GDSL-lipase family in land plants.

    PubMed

    Volokita, Micha; Rosilio-Brami, Tamar; Rivkin, Natalia; Zik, Moriyah

    2011-01-01

    The GDSL-lipase gene family is a very large subfamily within the supergene family of SGNH esterases, defined by the distinct GDSL amino acid motif and several highly conserved domains. Plants retain a large number of GDSL-lipases indicating that they have acquired important functions. Yet, in planta functions have been demonstrated for only a few GDSL-lipases from diverse species. Considering that orthologs often retain equivalent functions, we determined the phylogenetic relationships between GDSL-lipases from genome-sequenced species representing bryophytes, gymnosperms, monocots, and eudicots. An unrooted phylogenetic tree was constructed from the amino acid sequences of 604 GDSL-lipases from seven species. The topology of the tree depicts two major and one minor subfamily. This division is also supported by the unique gene structure of each subfamily. Because GDSL-lipase genes of all species are present in each of the three subfamilies, we conclude that the last common ancestor of the land plants already possessed at least one ancestral GDSL-lipase gene of each subfamily. Combined gene structure and synteny analyses revealed events of segmental duplications, gene transposition, and gene degeneration in the evolution of the GDSL-lipase gene family. Furthermore, these analyses showed that independent events of intron gain and loss also contributed to the extant repertoire of the GDSL-lipase gene family. Our findings suggest that underlying many of the intron losses was a spliceosomal-mediated mechanism followed by gene conversion. Sorting the phylogenetic relationships among the members of the GDSL-lipase gene family, as depicted by the tree and supported by synteny analyses, provides a framework for extrapolation of demonstrated functional data to GDSL-lipases, whose function is yet unknown. Furthermore, function(s) associated with specific lineage(s)-enriched branches may reveal correlations between acquired and/or lost functions and speciation.

  20. Cumulative effects in Swedish EIA practice - difficulties and obstacles

    SciTech Connect

    Waernbaeck, Antoienette Hilding-Rydevik, Tuija

    2009-02-15

    The importance of considering cumulative effects (CE) in the context of environmental assessment is manifested in the EU regulations. The demands on the contents of Environmental Impact Assessment (EIA) and Strategic Environmental Assessment (SEA) documents explicitly ask for CE to be described. In Swedish environmental assessment documents CE are rarely described or included. The aim of this paper is to look into the reasons behind this fact in the Swedish context. The paper describes and analyse how actors implementing the EIA and SEA legislation in Sweden perceive the current situation in relation to the legislative demands and the inclusion of cumulative effects. Through semi-structured interviews the following questions have been explored: Is the phenomenon of CE discussed and included in the EIA/SEA process? What do the actors include in and what is their knowledge of the term and concept of CE? Which difficulties and obstacles do these actors experience and what possibilities for inclusion of CE do they see in the EIA/SEA process? A large number of obstacles and hindrances emerged from the interviews conducted. It can be concluded from the analysis that the will to act does seem to exist. A lack of knowledge in respect of how to include cumulative effects and a lack of clear regulations concerning how this should be done seem to be perceived as the main obstacles. The knowledge of the term and the phenomenon is furthermore quite narrow and not all encompassing. They experience that there is a lack of procedures in place. They also seem to lack knowledge of methods in relation to how to actually work, in practice, with CE and how to include CE in the EIA/SEA process. It can be stated that the existence of this poor picture in relation to practice concerning CE in the context of impact assessment mirrors the existing and so far rather vague demands in respect of the inclusion and assessment of CE in Swedish EIA and SEA legislation, regulations, guidelines and

  1. A Family-Wide RT-PCR Assay for Detection of Paramyxoviruses and Application to a Large-Scale Surveillance Study

    PubMed Central

    van Boheemen, Sander; Bestebroer, Theo M.; Verhagen, Josanne H.; Osterhaus, Albert D. M. E.; Pas, Suzan D.; Herfst, Sander; Fouchier, Ron A. M.

    2012-01-01

    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. PMID:22496880

  2. Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

    PubMed Central

    2014-01-01

    Background Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken. Methods We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population. Results We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci. Conclusions Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The

  3. Further Evidence that Pediatric-Onset Bipolar Disorder Comorbid with ADHD Represents a Distinct Subtype: Results from a Large Controlled Family Study

    PubMed Central

    Biederman, Joseph; Faraone, Stephen V.; Petty, Carter; Martelon, MaryKate; Woodworth, K. Yvonne; Wozniak, Janet

    2012-01-01

    We used familial risk analysis to clarify the diagnostic comorbidity between pediatric BP-I disorder and ADHD, testing the hypothesis that pediatric BP-I disorder comorbid with ADHD represents a distinct subtype. Structured diagnostic interviews were used to obtain DSM-IV psychiatric diagnoses on first-degree relatives (n=726) of referred children and adolescents satisfying diagnostic criteria for BP-I disorder (n=239). For comparison, diagnostic information on the first-degree relatives (N=511) of non-bipolar ADHD children (N=162) and the first degree relatives (N=411) of control children (N=136) with neither ADHD nor BP-I disorder were examined. BP-I disorder and ADHD in probands bred true irrespective of the comorbidity with the other disorder. We also found that the comorbid condition of BP-I disorder plus ADHD also bred true in families, and the two disorders co-segregated among relatives. This large familial risk analysis provides compelling evidence that pediatric BP-I disorder comorbid with ADHD represents a distinct familial subtype. PMID:22979994

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

    PubMed

    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.

  5. Swedish Chemists and Discovery of the Elements

    NASA Astrophysics Data System (ADS)

    Thomsen, Volker

    1996-10-01

    All of the elements not already known from antiquity were discovered in Europe and North America. So which country ranks number one on the discovery list? The question occurred to me while leafing through reference 1 in search of thermodynamic data on silicon. Never having seen such a tabulation, I wondered if it might prove useful in teaching. The question has a sports-related flavor that will appeal to many students. Personally, I picked England or Germany for #1. The actual result is surprising. The ranking considering only up to atomic number 103 is as follows: Note: Where two or more independent discoveries have been made, each country is credited. In the "others" category Austria and Denmark each has two discoveries. The remaining countries, with one each, are Finland, Italy, Mexico, Poland, Romania, Russia, and Spain. The high place for the USA is primarily due to the work done at Berkeley and Los Alamos on the transuranics. Without these discoveries, the US would have tied with Switzerland at three elements. Perhaps the most interesting aspect of this tabulation is that Swedish chemists have discovered the most elements. Four chemists alone account for twelve of the 20 discoveries: Baron Jöns Jakob Berzelius (1779-1848) is credited with four elements. His pupil, friend, and assistant, Carl Gustav Mosander (1797-1858) discovered three. P. T. Cleve also found three elements and Karl Wilhelm Scheele (1742-1786) discovered two. Biographical research on the Swedish chemists is a suitable assignment at the introductory level. Reasons for the predominance of Swedish chemists presents a challenging student research topic in the history of chemistry. Another interesting question at the introductory level is, transuranics aside, who discovered the most elements? At the more advanced level the question becomes, why? Literature Cited: 1. Emsley, J. The Elements; Clarendon: Oxford, 1989.

  6. Lingual Electromyography Related to Tongue Movements in Swedish Vowel Production.

    ERIC Educational Resources Information Center

    Hirose, Hajime; And Others

    1979-01-01

    In order to investigate the articulatory dynamics of the tongue in the production of Swedish vowels, electromyographic (EMG) and X-ray microbeam studies were performed on a native Swedish subject. The EMG signals were used to obtain average indication of the muscle activity of the tongue as a function of time. (NCR)

  7. National Curriculum Assessment in England--A Swedish Perspective

    ERIC Educational Resources Information Center

    Wikstrom, Christina

    2009-01-01

    In this commentary, the author discusses some of the issues she finds interesting from a Swedish perspective, and also makes some comparisons between the systems. The English and Swedish education and assessment systems have some fundamental differences, but also similarities. Some are becoming even more evident after learning about the…

  8. The Position of the Deaf in the Swedish Labor Market

    ERIC Educational Resources Information Center

    Rydberg, Emelie; Gellerstedt, Lotta Coniavitis; Danermark, Berth

    2010-01-01

    The position of deaf people in the Swedish labor market is described and analyzed. A population of 2,144 people born from 1941 to 1980 who attended special education programs for the deaf was compared to 100,000 randomly chosen individuals from the total Swedish population born during the same period. Data on these individuals consisted of…

  9. The Influence of Swedish on the English of Finnish Learners.

    ERIC Educational Resources Information Center

    Ringbom, Hakan

    A study of the effects of learning Swedish as a third language on the previously-learned English of native Finnish-speaking students examined 10,000 English-language school-leaving examinations of Finnish students for possible examples of Swedish influence in vocabulary, grammar, and word order. The examinations were those graded by a native…

  10. ICT Use among 13-Year-Old Swedish Children

    ERIC Educational Resources Information Center

    Samuelsson, Ulli

    2010-01-01

    Swedish children have grown up in a digital culture, but have internalized information and communication technology (ICT) in different ways and gained most of their knowledge by peer-based learning. The aim of this study is to give an empirical understanding of patterns of ICT use among Swedish children. The data are collected through a survey…

  11. Preschool Education and Day Care for Swedish Children.

    ERIC Educational Resources Information Center

    Mueller, Jeanne

    A comprehensive study of the types of care provided for Swedish children is presented. The point is made that the three major frameworks which support the Swedish philosophy of early childhood education are those of Arnold Gesell, Jean Piaget, and Erik H. Erikson. From all three sources, preschool teachers learn the concept of epigenesis, the…

  12. Parental Expectations of the Swedish Municipal School of Arts

    ERIC Educational Resources Information Center

    Lilliedahl, Jonathan; Georgii-Hemming, Eva

    2009-01-01

    This article draws on a study designed to analyse parental expectations of the Swedish municipal school of arts (hereafter MSA) (in Swedish: kommunal musik- och kulturskola). The study is based on in-depth interviews conducted and informed by grounded theory. Although parental expectations are scarcely uniform, the study reveals a hope that the…

  13. Capacity Building for School Gardening: A Swedish Case Study

    ERIC Educational Resources Information Center

    Akerblom, Petter

    2005-01-01

    This article reflects on experiences from Swedish research on school gardening and greening school grounds. A process-orientated case study in two Swedish cities is discussed, based on future workshops as a platform for situated capacity building in interaction between stakeholders in the in-school context and stakeholders from outside the local…

  14. Swedish Immersion in the Early Years in Finland

    ERIC Educational Resources Information Center

    Björklund, Siv; Mård-Miettinen, Karita; Savijärvi, Marjo

    2014-01-01

    Immersion education in Finland is a one-way (monolingual) early total Swedish programme for Finnish-speaking students. This immersion provision is offered at kindergarten level (ages 3-5), at preschool (age 6) and at primary levels (grades 1-9). Here, a brief synthesis of Finnish research studies on the early years in Swedish immersion is first…

  15. Imperatives for "Right" Educational Choices in Swedish Educational Policy

    ERIC Educational Resources Information Center

    Puaca, Goran

    2014-01-01

    The present article is based on a critical semiotic investigation of the Swedish Long-Term Survey on economic development. It aims to examine how recent Swedish policy trends bring specific economic, political and social processes together to form a system of meaning for both motivation and regulation over individuals' educational choices.…

  16. Swedish Support to Non-Formal Adult Education Programmes.

    ERIC Educational Resources Information Center

    Swedish International Development Authority (SIDA).

    This document presents an overview of support for economic development provided by the Swedish government to a variety of nonformal adult education programs in developing nations (mostly in Africa). The four sections of the report provide details of the following: (1) scope, objectives, and methods of Swedish development cooperation; (2) the…

  17. Swedish dairy farmers' perceptions of animal-related injuries.

    PubMed

    Lindahl, Cecilia; Lundqvist, Peter; Norberg, Annika Lindahl

    2012-01-01

    Animal-related injuries are among the most common occupational injuries in agriculture. Despite the large number of documented animal-related injuries in dairy farming, the issue has received relatively limited attention in the scientific literature. The farmers' own perspectives and views on risks and safety during livestock handling and what they think are effective ways of preventing injuries are valuable for the future design of effective interventions. This paper presents results from a qualitative study with the aim to investigate Swedish dairy farmers' own experience of animal-related occupational injuries, as well as their perceptions of and attitudes towards them, including risk and safety issues, and prevention measures. A total of 12 dairy farmers with loose housing systems participated in the study. Data collection was conducted by means of semistructured in-depth interviews. Three main themes with an impact on risks and safety when handling cattle were identified: the handler, the cattle, and the facilities. They all interact with each other, influencing the potential risks of any work task. Most of the farmers believed that a majority of the injuries can be prevented, but there are always some incidents that are impossible to foresee. In conclusion, this study indicates that Swedish dairy farmers are aware of the dangers from working with cattle. However, even though safety is acknowledged by the farmers as an important and relevant issue, in the end safety is often forgotten or not prioritized. One concern is that farmers are willing to take calculated risks to save money or time. In situations where they work alone with high stress levels and under economic distress, safety issues are easily given low priority. PMID:22994638

  18. Prenatal Phthalate Exposures and Anogenital Distance in Swedish Boys

    PubMed Central

    Carlstedt, Fredrik; Jönsson, Bo AG.; Lindh, Christian H.; Jensen, Tina K.; Bodin, Anna; Jonsson, Carin; Janson, Staffan; Swan, Shanna H.

    2014-01-01

    Background: Phthalates are used as plasticizers in soft polyvinyl chloride (PVC) and in a large number of consumer products. Because of reported health risks, diisononyl phthalate (DiNP) has been introduced as a replacement for di(2-ethylhexyl) phthalate (DEHP) in soft PVC. This raises concerns because animal data suggest that DiNP may have antiandrogenic properties similar to those of DEHP. The anogenital distance (AGD)—the distance from the anus to the genitals—has been used to assess reproductive toxicity. Objective: The objective of this study was to examine the associations between prenatal phthalate exposure and AGD in Swedish infants. Methods: AGD was measured in 196 boys at 21 months of age, and first-trimester urine was analyzed for 10 phthalate metabolites of DEP (diethyl phthalate), DBP (dibutyl phthalate), DEHP, BBzP (benzylbutyl phthalate), as well as DiNP and creatinine. Data on covariates were collected by questionnaires. Results: The most significant associations were found between the shorter of two AGD measures (anoscrotal distance; AGDas) and DiNP metabolites and strongest for oh-MMeOP [mono-(4-methyl-7-hydroxyloctyl) phthalate] and oxo-MMeOP [mono-(2-ethyl-5-oxohexyl) phthalate]. However, the AGDas reduction was small (4%) in relation to more than an interquartile range increase in DiNP exposure. Conclusions: These findings call into question the safety of substituting DiNP for DEHP in soft PVC, particularly because a shorter male AGD has been shown to relate to male genital birth defects in children and impaired reproductive function in adult males and the fact that human levels of DiNP are increasing globally. Citation: Bornehag CG, Carlstedt F, Jönsson BA, Lindh CH, Jensen TK, Bodin A, Jonsson C, Janson S, Swan SH. 2015. Prenatal phthalate exposures and anogenital distance in Swedish boys. Environ Health Perspect 123:101–107; http://dx.doi.org/10.1289/ehp.1408163 PMID:25353625

  19. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

    PubMed Central

    Pathak, Anand; Seipel, Katja; Pemov, Alexander; Dewan, Ramita; Brown, Christina; Ravichandran, Sarangan; Luke, Brian T.; Malasky, Michael; Suman, Shalabh; Yeager, Meredith; Gatti, Richard A.; Caporaso, Neil E.; Mulvihill, John J.; Goldin, Lynn R.; Pabst, Thomas; McMaster, Mary L.; Stewart, Douglas R.

    2016-01-01

    Familial acute myeloid leukemia is rare and linked to germline mutations in RUNX1, GATA2 or CCAAT/enhancer binding protein-α (CEBPA). We re-evaluated a large family with acute myeloid leukemia originally seen at NIH in 1969. We used whole exome sequencing to study this family, and conducted in silico bioinformatics analysis, protein structural modeling and laboratory experiments to assess the impact of the identified CEBPA Q311P mutation. Unlike most previously identified germline mutations in CEBPA, which were N-terminal frameshift mutations, we identified a novel Q311P variant that was located in the C-terminal bZip domain of C/EBPα. Protein structural modeling suggested that the Q311P mutation alters the ability of the CEBPA dimer to bind DNA. Electrophoretic mobility shift assays showed that the Q311P mu-tant had attenuated binding to DNA, as predicted by the protein modeling. Consistent with these findings, we found that the Q311P mutation has reduced transactivation, consistent with a loss-of-function mutation. From 45 years of follow up, we observed incomplete penetrance (46%) of CEBPA Q311P. This study of a large multi-generational pedigree reveals that a germline mutation in the C-terminal bZip domain can alter the ability of C/EBP-α to bind DNA and reduces transactivation, leading to acute myeloid leukemia. PMID:26721895

  20. The gender understanding of Swedish children.

    PubMed

    McConaghy, M J

    1980-01-01

    Due to variation across cultures in children's access to information about the nature of gender, there may be cross-cultural differences in the development of children's gender understanding. However, that development has previously been studied in American children exclusively. This paper reports a study of the gender understanding of children aged 4 to 8 in Sweden, where access to gender information is greater than in the United States. The Swedish children were found to be advanced relative to the previously-studied American children both in development of understanding of genital differences and in development of understanding of the genital basis of gender. Sex differences and referent effects are discussed.

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

    PubMed Central

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

    2013-01-01

    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 graphtheoretical 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. PMID:23333415

  2. Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21

    SciTech Connect

    Smith, S.A.; Holik, P.; Stevens, J.

    1996-01-15

    The discs-large family is a collection of proteins that have a common structural organization and are thought to be involved in signal transduction and mediating protein-protein interactions at the cytoplasmic surface of the cell membrane. The defining member of this group of proteins is the gene product of the Drosophila lethal (1) discs large (dlg) 1 locus, which was originally identified by the analysis of recessive lethal mutants. Germline mutations in dlg result in loss of apical-basolateral polarity, disruption of normal cell-cell adhesion, and neoplastic overgrowth of the imaginal disc epithelium. We have isolated and characterized a novel human gene, DLG3, that encodes a new member of the discs-large family of proteins. The putative DLG3 gene product has a molecular weight of 66 kDa and contains a discs-large homologous region, an src oncogene homology motif 3, and a domain with homology to guanylate kinase. The DLG3 gene is located on chromosome 17, in the same segment, 17q12-q21, as the related gene, DLG2. The products of the DLG2 and DLG3 genes show 36% identity and 58% similarity to each other, and both show nearly 60% sequence similarity to p55, an erythroid phosphoprotein that is a component of the red cell membrane. We suggest that p55, DLG2, and DLG3 are closely related members of a gene family, whose protein products have a common structural organization and probably a similar function. 25 refs., 3 figs.

  3. Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.

    PubMed

    Pandey, Nishtha; Xavier, Dennis F; Chatterjee, Arunima; Mani, Ram-Shankar; Hiremagalore, Ravi; Tharakan, Ajith; Rajashekhar, B; Anand, Anuranjan

    2016-01-01

    Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity.

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

    PubMed Central

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

    2014-01-01

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

  5. Prevalence of familial hypercholesterolemia: a meta-analysis of six large, observational, population-based studies in Poland

    PubMed Central

    Szafraniec, Krystyna; Polak, Maciej; Drygas, Wojciech; Piotrowski, Walerian; Zdrojewski, Tomasz; Jankowski, Piotr

    2016-01-01

    Introduction Familial hypercholesterolemia (FH) is a severely underdiagnosed and undertreated genetic disorder. Little is known about regional variation in the prevalence of FH, and information for Central and Eastern Europe (CEE) is scarce. This paper assesses the prevalence of FH and related cardiovascular disease (CVD) risk factors in Poland. Material and methods We performed a meta-analysis of six population-based studies in Poland. The FH was assessed using the Dutch Lipids Clinics Network (DLCN) criteria. The categories “definite” (> 8 points) and “probable” (6–8 points) were combined into “potential FH”. Combined estimates of proportions across studies were pooled by meta-analysis with a random effects model. Results A total of 37,889 persons aged 20–79 years were included in the analysis. The distribution of DLCN scores was skewed, and there were only 7 cases of definite FH. Prevalence of potential FH was 404/100,000 people (95% CI = 277–531/100,000). Familial hypercholesterolemia was more prevalent in women than in men, and the prevalence was the highest in the age group 45–54 years in men and 55–64 years in women. After adjustment for age and sex, compared to participants with normal cholesterol, persons with potential FH had twice the prevalence of hypertension (p < 0.01); smoking was more prevalent by about 80% (p < 0.01) and hypertriglyceridemia was nine times more frequent (p < 0.001). There was no difference in the prevalence of low high-density lipoprotein (HDL)-cholesterol or diabetes. Conclusions We believe that our study might facilitate the planning of a strategy to manage the disease at a population level, i.e. to develop a national strategy for the detection, diagnosis, and treatment of FH. PMID:27478447

  6. Making Early Modern Medicine: Reproducing Swedish Bitters.

    PubMed

    Ahnfelt, Nils-Otto; Fors, Hjalmar

    2016-05-01

    Historians of science and medicine have rarely applied themselves to reproducing the experiments and practices of medicine and pharmacy. This paper delineates our efforts to reproduce "Swedish Bitters," an early modern composite medicine in wide European use from the 1730s to the present. In its original formulation, it was made from seven medicinal simples: aloe, rhubarb, saffron, myrrh, gentian, zedoary and agarikon. These were mixed in alcohol together with some theriac, a composite medicine of classical origin. The paper delineates the compositional history of Swedish Bitters and the medical rationale underlying its composition. It also describes how we go about to reproduce the medicine in a laboratory using early modern pharmaceutical methods, and analyse it using contemporary methods of pharmaceutical chemistry. Our aim is twofold: first, to show how reproducing medicines may provide a path towards a deeper understanding of the role of sensual and practical knowledge in the wider context of early modern medical culture; and second, how it may yield interesting results from the point of view of contemporary pharmaceutical science.

  7. Caries, Periodontal Disease, Supernumerary Teeth and Other Dental Disorders in Swedish Wild Boar (Sus scrofa).

    PubMed

    Malmsten, A; Dalin, A-M; Pettersson, A

    2015-07-01

    Between January and December 2013, the dental and periodontal health of 99 Swedish wild boars (Sus scrofa) was investigated. Sampling occurred in conjunction with routine hunting at six large estates in the southern and middle parts of Sweden. All six of the estates use supplemental feeding. The weight of the animals, their sex and their dates of death were noted. Age was estimated using tooth eruption and tooth replacement patterns. The oral cavity was inspected and abnormalities were recorded on a dental chart modified for wild boars. The findings included supernumerary teeth, absence of teeth, mild class II malocclusion, severe tooth wear, periodontitis, calculus, caries, tooth fractures and the presence of enamel defects. Swedish wild boars suffer from different dental lesions and the impact of supplemental feeding on dental and periodontal health is still to be investigated.

  8. Benefits negotiation: three Swedish hospitals pursuit of potential electronic health record benefits.

    PubMed

    Jeansson, John S

    2013-01-01

    At the very heart of Swedish healthcare digitalisation are large investments in electronic health records (EHRs). These integrated information systems (ISs) carry promises of great benefits and value for organisations. However, realising IS benefits and value has, in general, proven to be a challenging task, and as organisations strive to formalise their realisation efforts a misconception of rationality threatens to emerge. This misconception manifests itself when the formality of analysis threatens to underrate the impact of social processes in deciding which potential benefits to pursue. This paper suggests that these decisions are the result of a social process of negotiation. The purpose of this paper is to observe three benefits analysis projects of three Swedish hospitals to better understand the character and management of proposed benefits negotiations. Findings depict several different categories of benefits negotiations, as well as key factors to consider during the benefits negotiation process. PMID:24191344

  9. Caries, Periodontal Disease, Supernumerary Teeth and Other Dental Disorders in Swedish Wild Boar (Sus scrofa).

    PubMed

    Malmsten, A; Dalin, A-M; Pettersson, A

    2015-07-01

    Between January and December 2013, the dental and periodontal health of 99 Swedish wild boars (Sus scrofa) was investigated. Sampling occurred in conjunction with routine hunting at six large estates in the southern and middle parts of Sweden. All six of the estates use supplemental feeding. The weight of the animals, their sex and their dates of death were noted. Age was estimated using tooth eruption and tooth replacement patterns. The oral cavity was inspected and abnormalities were recorded on a dental chart modified for wild boars. The findings included supernumerary teeth, absence of teeth, mild class II malocclusion, severe tooth wear, periodontitis, calculus, caries, tooth fractures and the presence of enamel defects. Swedish wild boars suffer from different dental lesions and the impact of supplemental feeding on dental and periodontal health is still to be investigated. PMID:25979683

  10. Outcomes of Family Group Conferencing in Sweden

    ERIC Educational Resources Information Center

    Sundell, Knut; Vinnerljung, Bo

    2004-01-01

    Objective: Between 1995 and 1997, the Swedish Association of Local Authorities implemented Family Group Conferences (FGC) in 10 local authorities throughout Sweden. This study reports on client outcomes of this implementation. Method: 97 children involved in 66 FGCs between November 1996 and October 1997 were compared with 142 children from a…

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

    PubMed

    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.

  12. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.

    PubMed

    Giaglis, S; Papadopoulos, V; Kambas, K; Doumas, M; Tsironidou, V; Rafail, S; Kartalis, G; Speletas, M; Ritis, K

    2007-05-01

    Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting bouts of fever and serositis and caused by altered pyrin due to mutated MEFV gene. FMF is common in the Mediterranean Basin populations, although with varying genetic patterns. The spectrum and clinical significance of MEFV alterations in Greece has yet not been elucidated. The aim of this study was to analyze the spectrum of MEFV alterations in FMF patients and healthy individuals in Greece. A cohort of 152 Greek FMF patients along with 140 Greek healthy controls was enrolled. Non-isotopic RNase cleavage assay (NIRCA) and sequencing allowed mutational and haplotypic analysis of the entire coding sequence of MEFV. The ARLEQUIN 2.0, DNASP 4.0 and PHYLIP software were used for population genetics analysis. Among patients, 127 (83.6%) carried at least one known mutation. The most common mutations identified were M694V (38.1%), M680I (19.7%), V726A (12.2%), E148Q (10.9%) and E230K (6.1%). The total carrier rate among healthy individuals was 0.7%. The presence of R202Q homozygosity in 12 of the remaining 25 MEFV negative FMF patients might be considered as disease related in Greeks. Population genetics analysis revealed that Greeks rely closer to the eastern rather than western populations of the Mediterranean Basin. PMID:17489852

  13. Excess mortality among Swedish chimney sweeps.

    PubMed Central

    Gustavsson, P; Gustavsson, A; Hogstedt, C

    1987-01-01

    In a cohort study of 5464 union organised Swedish chimney sweeps employed at any time between 1918 and 1980 mortality was studied from 1951 to 1982 with national statistics used as a reference. Follow up was possible for 98.6% of the individuals: 717 deaths were observed against 540 expected. There was an increased mortality from coronary heart disease, respiratory diseases, and several types of malignant tumours. Lung cancer mortality was significantly increased and positively correlated to the number of years employed. A fivefold risk increase for oesophageal cancer and liver cancer was found. The increased mortality could be attributed to exposure to combustion products in the work environment but not to smoking habits. PMID:3689705

  14. Herbert Olivecrona: founder of Swedish neurosurgery.

    PubMed

    Ljunggren, B

    1993-01-01

    Herbert Olivecrona (1891-1980) singlehandedly founded Swedish neurosurgery. At the International Congress in Neurology in Bern in August, 1931, Harvey Cushing invited the cream of the world's medical society to a private banquet. Among the 28 specially invited guests was Herbert Olivecrona. At 40 years old, Olivecrona took his seat with pioneers such as Otfrid Foerster, Percival Bailey, Hugh Cairns, Geoffrey Jefferson, and Sir Charles Sherrington. This suggests that Cushing was impressed by the Swedish aristocrat's didactic deeds when he visited the Serafimer Hospital in Stockholm 2 years earlier. During the mid-1920's, the radiologist Erik Lysholm greatly improved the technique of ventriculography and, challenged by Olivecrona, his diagnostic neuroradiology became of superior quality. In the early 1930's, utilizing technical innovations of his own, Lysholm became a master at demonstrating and localizing posterior fossa tumors, which Olivecrona then operated on. Olivecrona's clinic became the mecca to which many scholars, thirsting for more knowledge, went on a pilgrimage. The international reputation of the clinic was founded, not on epoch-making discoveries, but by the resolute and practical application of methods already launched elsewhere and the exemplary organization that Olivecrona had established in collaboration with Lysholm. In spite of hardships and primitive working conditions, the clinic at the Serafimer Hospital gradually developed into the ideal prototype for a modern neurosurgical department. Olivecrona trained many colorful personalities who later were to lay the foundation for neurosurgery in their home countries; these included Wilhelm Tönnis of Germany, Edvard Busch of Denmark, and Aarno Snellman of Finland. Olivecrona was a true pioneer who made major contributions in practically all fields of conventional neurosurgery.

  15. A Swedish national adoption study of criminality

    PubMed Central

    Kendler, K. S.; Lönn, S. Larsson; Morris, N. A.; Sundquist, J.; Långström, N.; Sundquist, K.

    2014-01-01

    Background To clarify the role of genetic and environmental factors in criminal behavior (CB), we examined all CB and violent and non-violent subtypes (VCB and NVCB, respectively) in a Swedish national sample of adoptees and their relatives. Method CB was defined by a conviction in the Swedish Crime Register with standard definitions for VCB and NVCB subtypes. We examined adoptees born 1950–1991 (n=18070) and their biological (n=79206) and adoptive (n=47311) relatives. Results The risk for all CB was significantly elevated in the adopted-away offspring of biological parents of which at least one had CB [odds ratio (OR) 1.5, 95% confidence interval (CI) 1.4–1.6] and in the biological full and half-siblings of CB adoptees (OR 1.4, 95% CI 1.2–1.6 and OR 1.3, 95% CI 1.2–1.3, respectively). A genetic risk index (including biological parental/sibling history of CB and alcohol abuse) and an environmental risk index (including adoptive parental and sibling CB and a history of adoptive parental divorce, death, and medical illness) both strongly predicted probability of CB. These genetic and environmental risk indices acted additively on adoptee risk for CB. Moderate specificity was seen in the transmission of genetic risk for VCB and NVCB between biological parents and siblings and adoptees. Conclusions CB is etiologically complex and influenced by a range of genetic risk factors including a specific liability to CB and a vulnerability to broader externalizing behaviors, and by features of the adoptive environment including parental CB, divorce and death. Genetic risk factors for VCB and NVCB may be at least partially distinct. PMID:24180693

  16. Modeling recovery of Swedish ecosystems from acidification.

    PubMed

    Sverdrup, Harald; Martinson, Liisa; Alveteg, Mattias; Moldan, Filip; Kronnäs, Veronika; Munthe, John

    2005-02-01

    Dynamic models complement existing time series of observations and static critical load calculations by simulating past and future development of chemistry in forest and lake ecosystems. They are used for dynamic assessment of the acidification and to produce target load functions, that describe what combinations of nitrogen and sulfur emission reductions are needed to achieve a chemical or biological criterion in a given target year. The Swedish approach has been to apply the dynamic acidification models MAGIC, to 133 lakes unaffected by agriculture and SAFE, to 645 productive forest sites. While the long-term goal is to protect 95% of the area, implementation of the Gothenburg protocol will protect approximately 75% of forest soils in the long term. After 2030, recovery will be very slow and involve only a limited geographical area. If there had been no emission reductions after 1980, 87% of the forest area would have unwanted soil status in the long term. In 1990, approximately 17% of all Swedish lakes unaffected by agriculture received an acidifying deposition above critical load. This fraction will decrease to 10% in 2010 after implementation of the Gothenburg protocol. The acidified lakes of Sweden will recover faster than the soils. According to the MAGIC model the median pre-industrial ANC of 107 microeq L(-1) in acid sensitive lakes decreased to about 60 microeq L(-1) at the peak of the acidification (1975-1990) and increases to 80 microeq L(-1) by 2010. Further increases were small, only 2 microeq L(-1) between 2010 and 2040. Protecting 95% of the lakes will require further emission reductions below the Gothenburg protocol levels. More than 7000 lakes are limed regularly in Sweden and it is unlikely that this practice can be discontinued in the near future without adverse effects on lake chemistry and biology.

  17. Photoproduction of dissolved inorganic carbon in Swedish lakes

    NASA Astrophysics Data System (ADS)

    Koehler, B.; Landelius, T.; Tranvik, L. J.

    2012-04-01

    A substantial fraction of the dissolved organic carbon (DOC) in inland waters is mineralized to dissolved inorganic carbon (DIC) during passage towards the sea. Both microbial and photochemical mineralization have a share but there is currently no landscape-scale estimate of the contribution of photomineralization to total lake carbon dioxide emissions, restricting our understanding of inland-water C cycling. We use 1) DOC absorbance spectra measured during autumn 2009 in water samples from 1074 lakes distributed across Sweden, 2) light attenuation coefficients estimated based on correlations with absorption coefficients as established from literature data, 3) cloud-corrected, below-water-surface downwelling scalar irradiance spectra derived by modeling radiative transfer in the atmosphere and transmission into the water and 4) an apparent quantum yield spectrum determined in a humic lake, to calculate spectra of DIC photoproduction from 280 to 600 nm and from the water surface down to the mean lake depths. For each lake, we calculate DIC photoproduction rates on a daily base and integrate to obtain yearly flux estimates. Preliminary model results calculated for July 2009 show that, even though water color differed largely (25%- and 75%-quantiles of specific UV absorption coefficients at 254 nm (SUV A254) of 6.4 and 9.6 L mg C-1 m-1, respectively), depth-integrated DIC photoproduction rates showed a relatively small variation with a 25%-quantile of 12.0 and a 75%-quantile of 13.1 mg C m-2 day-1. These rather similar DIC photoproduction rates are explained by their different depth distributions: The brownest lake with a SUV A254 of 12.9 L mg C-1 m-1 had large surface DIC photoproduction rates of 887.9 mg C m-3 day-1 but photons were quickly attenuated with depth, with DIC photoproduction rates falling below 1 mg C m-3 day-1 already at ¯ 0.2 m depth (depth-integrated rate of 14.2 mg C m-2 day-1). The clearest lake with a SUV A254 of 1.4 L mg C-1 m-1 had nearly 100

  18. Facing the future: The Swedish Air Force, 1990-2005

    SciTech Connect

    Bitzinger, R.A.

    1993-01-01

    The report examines (1) the current and future state of the Swedish Air Force (SwAF) as it embarks on a major modernization program and (2) the implications that this has or may have both for Swedish defense and for Western security interests. It discusses overall Swedish security policy and defense doctrine and the role that the SwAF plays in Swedish neutrality; the current structure and missions of the SwAF operations, plans, and programs; and the likely impact that future SwAF force structure developments may have on regional security. The study should be of interest to individuals and organizations concerned with Nordic and northern European security issues, with the future of European air forces and aerospace programs, and with NATO planning in response to the evolving security environment in Europe.

  19. Swedish Research and Debate About Bilingualism. A Critical Review of the Swedish Research and Debate about Bilingualism and Bilingual Education in Sweden from an International Perspective.

    ERIC Educational Resources Information Center

    Paulston, Christina Bratt

    Swedish research and opinion on bilingualism, language policy, and bilingual education in Sweden is reviewed. The Swedish debate on language planning and bilingual education revolves around two perspectives: structural-functional theory and conflict theory. Swedish research consists primarily of statistical and descriptive studies rather than…

  20. "Swedishness" as a Norm for Learners of English in Swedish Schools: A Study of National and Local Objectives and Criteria in Compulsory Schools

    ERIC Educational Resources Information Center

    Tholin, Jörgen

    2014-01-01

    This paper examines whether the Swedish steering documents for English-language education are ethnically biased, that is, whether Swedish culture and language or "Swedishness" are used as norms when teaching and assessing students. To examine whether such bias exists, the central curricula and syllabi from 1994 and 2000, as well as local…

  1. The ATL gene family from Arabidopsis thaliana and Oryza sativa comprises a large number of putative ubiquitin ligases of the RING-H2 type.

    PubMed

    Serrano, Mario; Parra, Socorro; Alcaraz, Luis D; Guzmán, Plinio

    2006-04-01

    Ubiquitin ligases play an important regulatory role in the control of protein degradation processes via the ubiquitin/26S proteasome pathway in eukaryotes. These enzymes participate in substrate specification and mediate the transfer of ubiquitin to target proteins. A large number of ubiquitin ligases are predicted in the eukaryotes whose genomes have been sequenced; in Arabidopsis thaliana more than 1300 genes are thought to encode ubiquitin ligases. At least three classes of ubiquitin ligases are present in Arabidopsis, one of which comprises about 470 RING zinc-finger domain proteins. Within this class we have characterized the ATL family that encodes a RING-H2 finger. We identified 80 members of this family in A. thaliana and 121 in Oryza sativa. About 60% of the rice ATLs are clustered with A. thaliana ATLs, and in many cases the gene products showed sequence similarities beyond the ATL's conserved features, suggesting that they could be orthologous genes. Ninety percent of the ATLs are intronless genes, suggesting that the structure of the basic ATL protein may have evolved as a functional module. We carried out a survey of T-DNA insertions in 30% of the Arabidopsis ATL genes and screened for possible phenotypes. Four of these genes are likely to be essential for viability, since homozygous plants for the T-DNA insertion were not recovered. One of them, ATL8, is mainly expressed in young siliques, suggesting a role during embryogenesis. We also recovered a line carrying a T-DNA insertion in ATL43 that showed an ABA-insensitive phenotype, suggesting a role of this gene in the ABA response. The organization of ATLs in Arabidopsis and rice in this study will be a valuable comprehensive guide for this multigene family.

  2. A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

    PubMed Central

    Maslen, C; Babcock, D; Raghunath, M; Steinmann, B

    1997-01-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome. Genetic-linkage analysis has implicated the fibrillin-2 gene (FBN2) as the CCA locus. Mutation analysis of two isolated CCA patients revealed missense mutations, indicating that defects in FBN2 may be responsible for this disorder. However, cosegregation of a mutant allele with the disease phenotype has not yet been established. We have investigated the primary cause of CCA in a large well-characterized kindred with five generations comprising 18 affected individuals. Previous studies demonstrated linkage of this family's CCA phenotype to FBN2. Mutation analysis of cDNA derived from the proband and her affected brother, using a nonisotopic RNase cleavage assay, revealed the partial skipping of exon 31. Approximately 25% mutant transcript is produced, which is apparently sufficient to cause a CCA phenotype. Sequence analysis of genomic DNA revealed an unusual base composition for intron 30 and identified the mutation, a g-26t transversion, in the vicinity of the splicing branch-point site in intron 30. Genomic DNA from 30 additional family members, both affected and unaffected, then was analyzed for the mutation. The results clearly demonstrate cosegregation of the branch-point mutation with the CCA phenotype. This is the first report of a CCA mutation in a multiplex family, unequivocally establishing that mutation in FBN2 are responsible for the CCA phenotype. In addition, branch-point mutations only very rarely have been associated with human disease, suggesting that the unusual composition of this intron influences splicing stability. Images Figure 2ab Figure 2c Figure 3ab Figure 3c Figure 4 Figure 6 Figure 7 PMID:9199560

  3. A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred.

    PubMed

    Jimenez-Zepeda, Victor H; Bahlis, Nizar J; Gilbertson, Janet; Rendell, Nigel; Porcari, Riccardo; Lachmann, Helen J; Gillmore, Julian D; Hawkins, Philip N; Rowczenio, Dorota M

    2015-03-01

    Hereditary transthyretin (ATTR) amyloidosis is caused by inheritance of an abnormal TTR gene in an autosomal dominant fashion. In its native state, TTR is a homotetramer consisting of four identical polypeptides. Mutations in the TTR gene contribute to destabilization and dissociation of the TTR tetramer, enabling abnormally folded monomers to self-assemble as amyloid fibrils. Currently, over 120 TTR variants have been described, with varying geographic distributions, degrees of amyloidogenicity and organ involvement. We report here a large Irish family with familial amyloid polyneuropathy (FAP), consisting of multiple affected generations, caused by a novel TTR mutation; p.H110D (H90D). The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) that the amyloid fibrils were composed of TTR, in conjunction with a typical FAP phenotype, indicates that the novel TTR mutation was the cause of amyloidosis. We used a molecular visualization tool PyMOL to analyze the effect of the p.H110D (H90D) replacement on the stability of the TTR molecule. Our data suggest that the loss of two hydrogen bonds and the presence of an additional negative charge in the core of a cluster of acidic residues significantly perturb the tetramer stability and likely contribute to the pathogenic role of this variant. PMID:25430583

  4. A Large Family of AvrLm6-like Genes in the Apple and Pear Scab Pathogens, Venturia inaequalis and Venturia pirina

    PubMed Central

    Shiller, Jason; Van de Wouw, Angela P.; Taranto, Adam P.; Bowen, Joanna K.; Dubois, David; Robinson, Andrew; Deng, Cecilia H.; Plummer, Kim M.

    2015-01-01

    Venturia inaequalis and V. pirina are Dothideomycete fungi that cause apple scab and pear scab disease, respectively. Whole genome sequencing of V. inaequalis and V. pirina isolates has revealed predicted proteins with sequence similarity to AvrLm6, a Leptosphaeria maculans effector that triggers a resistance response in Brassica napus and B. juncea carrying the resistance gene, Rlm6. AvrLm6-like genes are present as large families (>15 members) in all sequenced strains of V. inaequalis and V. pirina, while in L. maculans, only AvrLm6 and a single paralog have been identified. The Venturia AvrLm6-like genes are located in gene-poor regions of the genomes, and mostly in close proximity to transposable elements, which may explain the expansion of these gene families. An AvrLm6-like gene from V. inaequalis with the highest sequence identity to AvrLm6 was unable to trigger a resistance response in Rlm6-carrying B. juncea. RNA-seq and qRT-PCR gene expression analyses, of in planta- and in vitro-grown V. inaequalis, has revealed that many of the AvrLm6-like genes are expressed during infection. An AvrLm6 homolog from V. inaequalis that is up-regulated during infection was shown (using an eYFP-fusion protein construct) to be localized to the sub-cuticular stroma during biotrophic infection of apple hypocotyls. PMID:26635823

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

    PubMed

    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. PMID:20738328

  6. A Large Family of AvrLm6-like Genes in the Apple and Pear Scab Pathogens, Venturia inaequalis and Venturia pirina.

    PubMed

    Shiller, Jason; Van de Wouw, Angela P; Taranto, Adam P; Bowen, Joanna K; Dubois, David; Robinson, Andrew; Deng, Cecilia H; Plummer, Kim M

    2015-01-01

    Venturia inaequalis and V. pirina are Dothideomycete fungi that cause apple scab and pear scab disease, respectively. Whole genome sequencing of V. inaequalis and V. pirina isolates has revealed predicted proteins with sequence similarity to AvrLm6, a Leptosphaeria maculans effector that triggers a resistance response in Brassica napus and B. juncea carrying the resistance gene, Rlm6. AvrLm6-like genes are present as large families (>15 members) in all sequenced strains of V. inaequalis and V. pirina, while in L. maculans, only AvrLm6 and a single paralog have been identified. The Venturia AvrLm6-like genes are located in gene-poor regions of the genomes, and mostly in close proximity to transposable elements, which may explain the expansion of these gene families. An AvrLm6-like gene from V. inaequalis with the highest sequence identity to AvrLm6 was unable to trigger a resistance response in Rlm6-carrying B. juncea. RNA-seq and qRT-PCR gene expression analyses, of in planta- and in vitro-grown V. inaequalis, has revealed that many of the AvrLm6-like genes are expressed during infection. An AvrLm6 homolog from V. inaequalis that is up-regulated during infection was shown (using an eYFP-fusion protein construct) to be localized to the sub-cuticular stroma during biotrophic infection of apple hypocotyls. PMID:26635823

  7. How School Nurses Experience Their Work with Schoolchildren Who Have Mental Illness – A Qualitative Study in a Swedish Context

    PubMed Central

    Dina, Fikrije; Pajalic, Zada

    2014-01-01

    Background: Reports from research have shown that mental illness has increased dramatically in recent years and is currently one of the biggest problems among Swedish children and adolescents. Aim: The aim of this study was to describe how Swedish school nurses experience their work with schoolchildren who have mental illness Method: Data were gained by individual interviews with school nurses (n = 10) and were analyzed by using manifest qualitative content analysis. Results: The results of the study showed that school nurses used various tools when working with schoolchildren who have mental illness. The working tools were regular health talks, motivational interviewing, individual counseling, family counseling, creating trust, and affirming the child’s confidence. Conclusion: Results of the study demonstrate the need for further research on schoolchildren’s experience of getting help and support from the school nurse. PMID:24999138

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

    PubMed

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

    2011-04-01

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

  9. Mortality and incidence of cancer among Swedish gas workers.

    PubMed Central

    Gustavsson, P; Reuterwall, C

    1990-01-01

    The mortality and incidence of cancer was studied among 295 workers at a Swedish gas production company. All men employed for at least one year between 1965 and 1972 were included in the study. The follow up period for mortality was 1966 to 1986, and the incidence of cancer was followed up from 1966 to 1983. Expected numbers of deaths were based on local death rates among occupationally active men, the expected numbers of cancer were based on national statistics. The total mortality was increased, mainly due to an excess of deaths from circulatory diseases. The excess was larger after long follow up and after long employment periods. Two cases of cancer in the nose and nasal sinuses were found; there was no excess of lung cancer. Smoking habits were investigated for a subset of the cohort and did not differ from the average for men in large cities. The findings are discussed in relation to other studies of soot and combustion exposed workers. PMID:2328224

  10. The rise, decline, and future of the Swedish left.

    PubMed

    Lindberg, Ingemar; Agren, Gunnar; Hogstedt, Christer

    2011-01-01

    Swedish voters' support for the labor movement has decreased from about 50 percent to less than 40 percent in recent decades, with a resulting loss of the majority in parliament. Over the same period, capitalism has undergone profound changes--transfer of production across borders, the huge growth and ultra-rapid movement of financial capital, and subordination of social welfare to the interests of profit. A new phase in the development of capitalism can be detected: from welfare capitalism to financial capitalism. Large parts of the public sector have been privatized by both conservative and labor governments, even while retaining public funding. The social gaps grow, and a new line of conflict is emerging in the values and interests that should govern care-taking, schools, and living conditions. The labor movement's ideological and scientific analyses have taken a backseat to liberal-conservative think tanks. An effective response to financial capitalism, transnational production chains, and European integration will require trade union and political actions across national borders to strengthen the power resources in the hands of the majority of the population, so as to counter the increasingly destructive powers of capitalism.

  11. Toxicity and detoxification of Swedish detergents and softener products.

    PubMed

    Pettersson, A; Adamsson, M; Dave, G

    2000-11-01

    Detergents and softeners are used in large quantities and some of their ingredients are highly toxic to aquatic organisms. In the present study the acute toxicity to Daphnia magna was determined for 26 detergents and five softener Swedish products. Only one of the detergents had a 48-h EC50 > 100 mg/l. The 48-h EC50 for the other 25 detergents ranged from 4 to 85 mg/l. The 48-h EC50 for the five softeners ranged from 15 to 166 mg/l. Detoxification tests, with and without inoculum of sewage organisms, showed that all tested products were detoxified to some extent after 16 days and that the rate of detoxification was considerably higher with addition of sewage organisms. Toxicity to D. magna of the detergents and softeners, and the biotic detoxification rate was correlated with the concentration of surfactants used in formulating the products (more surfactants increased toxicity and a slower rate of detoxification). These results emphasize the importance of biological purification of domestic wastewater containing detergents and a suggested development of less toxic and more easily degradable surfactants.

  12. Survey of young patients with polio and a foreign background at a Swedish post-polio outpatient clinic.

    PubMed

    Werhagen, Lars; Borg, Kristian

    2016-10-01

    Nowadays, polio survivors aged under 60 years are non-native Swedes which pose new aspects and challenges to a post-polio outpatient clinic. To analyze the medical data, walking aids, occupational, and family situation in non-native polio survivors aged less than 60 years at a Swedish post-polio outpatient clinic. Retrospective data analysis. Data were retrieved from medical records at the post-polio outpatient clinic. Actual age, age at acute polio infection, walking capacity, pain, concomitant diseases, working and family situation, and ethnical origin were analyzed. Data are presented in numbers and percentage. 153 patients were included. Mean age was 45 (17-60) years, and mean age at acute polio infection was 2 (0-12) years. Paresis of the lower extremities was the most common disability. 10 % were wheelchair dependent. Pain occurred in 70 % with a mean intensity of 55 measured with the visual analog scale. Hypertension was the most common concomitant disease. Half of the polio survivors were working at least part time, and roughly half were singles. Data were comparable with data earlier published in Swedish native polio survivors. Non-native polio survivors aged under 60 years showed similarities in age at acute polio infection, paresis, prevalence, and intensity of pain when compared with native Swedish polio survivors. They were, however, younger, and were less often working and married/cohabitants than native Swedish polio survivors. The results of this study underline the importance of social and vocational rehabilitation tailoring rehabilitation suitable for polio survivors with a foreign background. PMID:27299427

  13. Gender effects in familial cancer.

    PubMed

    Hemminki, Kari; Li, Xinjun

    2002-11-10

    Very limited data are available on sex ratios in familial cancer. Such data would be valuable in the assessment of sex chromosome effects and of interactions between background and familial rates. We used the nationwide Swedish Family-Cancer Database on 10.2 million individuals and over 1 million neoplasms to analyze familial risks for male and female offspring by paternal and maternal concordant cancer. Sex ratios for familial cancer were derived for cancer at 15 sites shared by men and women. At 14 sites the sex ratio (male/female) for familial relative risk ranged between 0.78 and 1.41, with no evidence of sex preference, suggesting that sex chromosomes do not contribute to a noticeable extent to familial risks. Furthermore, in cancers where the background incidence varied extensively by sex, such as bladder cancer (sex ratio 2.82) and nonthyroid endocrine tumors (0.65), the familial effect was proportionate to the background incidence and the familial sex ratio was close to unity. In thyroid cancer, the familial sex ratio was 2.48 (1.54-3.98) and the background incidence ratio was 0.31. This was the first evidence of an inverse sex ratio in primary cancer, i.e., higher familial risk in the gender of low background risk. The high familial ratio, 2.85 (95% CI: 1.35-6.03), was due to thyroid adenocarcinoma, encompassing both papillary and follicular types.

  14. Novel hepatitis E like virus found in Swedish moose.

    PubMed

    Lin, Jay; Norder, Heléne; Uhlhorn, Henrik; Belák, Sándor; Widén, Frederik

    2014-03-01

    A novel virus was detected in a sample collected from a Swedish moose (Alces alces). The virus was suggested as a member of the Hepeviridae family, although it was found to be highly divergent from the known four genotypes (gt1-4) of hepatitis E virus (HEV). Moose are regularly hunted for consumption in the whole of Scandinavia. Thus, the finding of this virus may be important from several aspects: (a) as a new diverged HEV in a new animal species, and (b) potential unexplored HEV transmission pathways for human infections. Considering these aspects, we have started the molecular characterization of this virus. A 5.1 kb amplicon was sequenced, and corresponded to the partial ORF1, followed by complete ORF2, ORF3 and poly(A) sequence. In comparison with existing HEVs, the moose HEV genome showed a general nucleotide sequence similarity of 37-63% and an extensively divergent putative ORF3 sequence. The junction region between the ORFs was also highly divergent; however, two putative secondary stem-loop structures were retained when compared to gt1-4, but with altered structural appearance. In the phylogenetic analysis, the moose HEV deviated and formed its own branch between the gt1-4 and other divergent animal HEVs. The characterization of this highly divergent genome provides important information regarding the diversity of HEV infecting various mammalian species. However, further studies are needed to investigate its prevalence in the moose populations and possibly in other host species, including the risk for human infection.

  15. The Swedish Interplanetary Society (1950-1969) and the formation of IAF and IAA

    NASA Astrophysics Data System (ADS)

    Ingemar Skoog, A.

    2011-06-01

    With a growing interest for rocket technology and space travel after WW II a number of new "space societies" were formed in the period 1948-1951 in addition to the ones already existing in Germany, the UK and the US since before WW II. Soon came the need for a common international platform for exchange of information and experience, and the concept of an international federation of astronautical societies emerged. Sweden was one of the 8 countries to sign the original declaration to create an International Astronautical Federation on October 2, 1950 in Paris at the 1st International Astronautical Congress. The Swedish Society for Space Research (Svenska Sällskapet för Rymdforskning) was formed a few days after the historical event in Paris. The name was soon to be changed to the Swedish Interplanetary Society (Svenska Interplanetariska Sällskapet, SIS). Sweden was one of the 10 countries to sign the IAF foundation in 1951 in London and in the following year the first Constitution of IAF in Stuttgart. The SIS quickly grow to a membership of several hundred persons and its membership in IAF promoted an intensive exchange of journals, and the annual participation at the IAC gave growth to start study projects on spacecraft and sounding rockets, and the publication of astronautical journals in Swedish. In 1957 the first Swede was elected vice-president of IAF. Not too long after the IAF foundation the idea of an international body of distinguished individuals emerged, in addition to the body of "member societies" (IAF). Upon the initiative of Theodor von Karman, Eugen Sänger and Andrew Haley the IAF council approval of an International Academy of Astronautical was given on August 15, 1960 during the 11th IAC in Stockholm. This IAC in Stockholm gave a large publicity to space research and astronautics in Sweden, and put the activities of the SIS in the focus of the general public. This paper presents the Swedish involvement in the foundation of IAF and IAA. It also

  16. Personality disorders in a Swedish peacekeeping unit.

    PubMed

    Michel, Per-Olof; Lundin, Tom; Larsson, Gerry

    2005-01-01

    There is a lack of knowledge about the incidence of personality disorders and their consequences among peacekeepers. Moreover, most studies are follow-up studies in which, if at all, personality traits are screened for after the soldiers have left their service abroad. The aim of this paper was to study personality disorders in a longitudinal perspective. The method used was to screen the personnel in a Swedish mechanized battalion serving in Bosnia from March until October 1996 on four occasions: before deployment, immediately after deployment, 6 months after deployment and 1 year after deployment. Serving in the battalion were 724 individuals of whom 516 took part in the survey. The screening instrument used was the DSM-IV and ICD-10 Personality Questionnaire (DIP-Q). The result shows that the rate of personality disorders were on the same level, or a little bit lower, than in the general population. Moreover, personality disorders were related to impaired general mental health and to reported traumatic experiences. Personality disorders also seemed to contribute to poor mental health 1 year after returning home from a mission abroad. The implications of these results for the future selection of peacekeepers are discussed. PMID:16195111

  17. Evolution of the 14-3-3 protein family: does the large number of isoforms in multicellular organisms reflect functional specificity?

    PubMed

    Rosenquist, M; Sehnke, P; Ferl, R J; Sommarin, M; Larsson, C

    2000-11-01

    14-3-3 proteins constitute a family of eukaryotic proteins that are key regulators of a large number of processes ranging from mitosis to apoptosis. 14-3-3s function as dimers and bind to particular motifs in their target proteins. To date, 14-3-3s have been implicated in regulation or stabilization of more than 35 different proteins. This number is probably only a fraction of the number of proteins that 14-3-3s bind to, as reports of new target proteins have become more frequent. An examination of 14-3-3 entries in the public databases reveals 153 isoforms, including alleloforms, reported in 48 different species. The number of isoforms range from 2, in the unicellular organism Saccharomyces cerevisiae, to 12 in the multicellular organism Arabidopsis thaliana. A phylogenetic analysis reveals that there are four major evolutionary lineages: Viridiplantae (plants), Fungi, Alveolata, and Metazoa (animals). A close examination of the aligned amino acid sequences identifies conserved amino acid residues and regions of importance for monomer stabilization, dimer formation, target protein binding, and the nuclear export function. Given the fact that 53% of the protein is conserved, including all amino acid residues in the target binding groove of the 14-3-3 monomer, one might expect little to no isoform specificity for target protein binding. However, using surface plasmon resonance we show that there are large differences in affinity between nine 14-3-3 isoforms of A. thaliana and a target peptide representing a novel binding motif present in the C terminus of the plant plasma membrane H(+)ATPase. Thus, our data suggest that one reason for the large number of isoforms found in multicellular organisms is isoform-specific functions. PMID:11080367

  18. A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family

    PubMed Central

    ZHOU, Peng; WEI, Ran; GUO, Zhenkui; ZHU, Haining; CAMPBELL, Desmond; LI, Qi; XU, Xiaoqun; WANG, Junfu; LUAN, Meng; CHEN, Xing; CHEN, Gang

    2016-01-01

    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 of DNA 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. PMID:27114981

  19. A Swedish validation of the Berlin Numeracy Test.

    PubMed

    Lindskog, Marcus; Kerimi, Neda; Winman, Anders; Juslin, Peter

    2015-04-01

    Recent research has highlighted the importance of considering an individual's level of numeracy, that is their numerical abilities, in a vast variety of judgment and decision making tasks. To accurately evaluate the influence of numeracy requires good and valid measures of the construct. In the present study we validate a Swedish version of the Berlin Numeracy Test (Cokely, Galesic, Schulz, Ghazal & Garcia-Retamero, 2012). The validation was carried out on both a student sample and a sample representative of the Swedish population. The Swedish BNT showed sound psychometrical properties in both samples. Further, in both samples the BNT had satisfactory convergent and discriminant validity when correlating with other measures of numeracy, while not being significantly related to measures of personality. With respect to predictive validity the results indicated divergent patterns in the two samples. In the student sample, participants scoring highest on the BNT outperformed those in the other three levels, which did not differ in performance. In contrast, in the population sample participants scoring lowest on the BNT performed worse than those in the other three levels, which did not differ in performance. Taken together, however, the results suggest that the Swedish version of the BNT should be considered a valid measure of numeracy in both Swedish student and population representative samples. PMID:25581209

  20. The narcissistic personality inventory: applicability in a Swedish population sample.

    PubMed

    Kansi, Juliska

    2003-12-01

    A Swedish translation of the 40-item Narcissistic Personality Inventory (NPI) was mailed to 410 participants, aged 21-61 years, randomly sampled from the Swedish general population. The participation rate was 62%. The applicability of a previously published seven-factor structure (Raskin & Terry) and a four-factor structure (Emmons) was investigated. The factor structure found in the present in the Swedish sample corresponded better with Emmons's version. Therefore the four-factor structure was chosen. Because the correspondence to Emmons's factor structure was not perfect, a revised NPI for Swedish use was constructed. The total scale score is usually used, although the Swedish NPI includes four subscales: Leadership/Power, Exhibitionism/Self-admiration. Superiority/Arrogance, and Uniqueness/Entitlement. For the total scale, the internal consistency (Cronbach's alpha) was 0.80 and the test-retest correlation was 0.93. The total scale score correlated with self-esteem as well as the interpersonal style and emotional aspects of psychopathy, supporting the validity of the scale.

  1. Summary of epidemiologic studies of lung cancer and radon in Swedish homes

    SciTech Connect

    Swedjemark, G.A.; Desai, G.

    1992-12-31

    Several epidemiologic studies of lung cancer and radon exposure in Swedish homes have been published, and an extensive study is currently being conducted over the whole country. Described is a short summary of the Swedish studies.

  2. Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

    PubMed Central

    Lindahl, Katarina; Åström, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre; Malmgren, Barbro; Ljunggren, Östen; Kindmark, Andreas

    2015-01-01

    Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype–phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here, detailed clinical phenotypes were recorded, and the COL1A1 and COL1A2 genes were analyzed in 164 Swedish OI families (223 individuals). Averages for bone mineral density (BMD), height and yearly fracture rate were calculated and related to OI and mutation type. N-terminal helical mutations in both the α1- and α2-chains were associated with the absence of dentinogenesis imperfecta (P<0.0001 vs 0.0049), while only those in the α1-chain were associated with blue sclera (P=0.0110). Comparing glycine with serine substitutions, α1-alterations were associated with more severe phenotype (P=0.0031). Individuals with type I OI caused by qualitative vs quantitative mutations were shorter (P<0.0001), but did not differ considering fractures or BMD. The children in this cohort were estimated to represent >95% of the complete Swedish pediatric OI population. The prevalence of OI types I, III, and IV was 5.16, 0.89, and 1.35/100 000, respectively (7.40/100 000 overall), corresponding to what has been estimated but not unequivocally proven in any population. Collagen I mutation analysis was performed in the family of 97% of known cases, with causative mutations found in 87%. Qualitative mutations caused 32% of OI type I. The data reported here may be helpful to predict phenotype, and describes for the first time the genetic epidemiology in >95% of an entire OI population. PMID:25944380

  3. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

    PubMed

    Lindahl, Katarina; Åström, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre; Malmgren, Barbro; Ljunggren, Östen; Kindmark, Andreas

    2015-08-01

    Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype-phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here, detailed clinical phenotypes were recorded, and the COL1A1 and COL1A2 genes were analyzed in 164 Swedish OI families (223 individuals). Averages for bone mineral density (BMD), height and yearly fracture rate were calculated and related to OI and mutation type. N-terminal helical mutations in both the α1- and α2-chains were associated with the absence of dentinogenesis imperfecta (P<0.0001 vs 0.0049), while only those in the α1-chain were associated with blue sclera (P=0.0110). Comparing glycine with serine substitutions, α1-alterations were associated with more severe phenotype (P=0.0031). Individuals with type I OI caused by qualitative vs quantitative mutations were shorter (P<0.0001), but did not differ considering fractures or BMD. The children in this cohort were estimated to represent >95% of the complete Swedish pediatric OI population. The prevalence of OI types I, III, and IV was 5.16, 0.89, and 1.35/100 000, respectively (7.40/100 000 overall), corresponding to what has been estimated but not unequivocally proven in any population. Collagen I mutation analysis was performed in the family of 97% of known cases, with causative mutations found in 87%. Qualitative mutations caused 32% of OI type I. The data reported here may be helpful to predict phenotype, and describes for the first time the genetic epidemiology in >95% of an entire OI population.

  4. The factor structure of the Maslach Burnout Inventory in two Swedish human service organizations.

    PubMed

    Söderfeldt, M; Söderfeldt, B; Warg, L E; Ohlson, C G

    1996-12-01

    The Maslach Burnout Inventory, MBI, is a well established measure of burnout. Its validity outside the USA is, however, uncertain. The aim of the present study was therefore to apply the MBI on personnel in two Swedish human service organizations, comparing factor solutions and scoring norms to the original results. The population consisted of 5730 employees in the Social Insurance Organization (SIO) and the Individual and Family Care section (IFC) of the social welfare agencies. Principal components analysis, principal axes and alpha factor analyses were performed, all with varimax rotation. The suggested three factor solution showed to be remarkably stable irrespective of type of analysis. Score levels were somewhat lower on two subscales in the Swedish population. The conclusion is that the psychometric properties of the MBI seem to be very satisfactory and stable, at least in comparison between Sweden and USA. It is suggested that the dimensionality of MBI is rather invariant, but that the score levels covary with national, cultural, or professional contexts within the human services.

  5. Incidence of pyometra in Swedish insured cats.

    PubMed

    Hagman, Ragnvi; Ström Holst, Bodil; Möller, Lotta; Egenvall, Agneta

    2014-07-01

    Pyometra is a clinically relevant problem in intact female cats and dogs. The etiology is similar in both animal species, with the disease caused by bacterial infection of a progesterone-sensitized uterus. Here, we studied pyometra in cats with the aim to describe the incidence and probability of developing pyometra based on age and breed. The data used were reimbursed claims for veterinary care insurance or life insurance claims or both in cats insured in a Swedish insurance database from 1999 to 2006. The mean incidence rate (IR) for pyometra was about 17 cats per 10,000 cat years at risk (CYAR). Cats with pyometra were diagnosed at a median age of 4 years and a significant breed effect was observed. The breed with the highest IR (433 cats per 10,000 CYAR) was the Sphynx, and other breeds with IR over 60 cats per 10,000 CYAR were Siberian cat, Ocicat, Korat, Siamese, Ragdoll, Maine coon, and Bengal. Pyometra was more commonly diagnosed with increasing age, with a marked increase in cats older than 7 years. The mean case fatality rate in all cats was 5.7%, which is slightly higher than corresponding reports in dogs of 3% to 4%. Geographical location (urban or rural) did not affect the risk of developing the disease. The present study provides information of incidence and probability of developing pyometra based on age, breed, and urban or rural geographical location. These data may be useful for designing cat breeding programs in high-risk breeds and for future studies of the genetic background of the disease. PMID:24726694

  6. Sun exposure and sunburn among Swedish toddlers.

    PubMed

    Bränström, Richard; Kristjansson, Sveinbjörn; Dal, Henrik; Rodvall, Ylva

    2006-07-01

    Skin cancer is an emerging public health problem in Sweden. Even though the most important preventable risk factor for the development of skin cancer--sun exposure--is known, the incidence of skin cancer is still increasing. Studies have showed an association between increased risk of skin cancer and sunburn early in life. The aim of the present paper was to examine the frequency of sun exposure, sunburn and use of sun protective measures among an urban sample of Swedish toddlers. In March 2003, the parents of 4000 randomly selected children born between September 2001 and August 2002 were contacted by mail, and asked to fill out an enclosed questionnaire. The questionnaire concerned their own and their one-year-old child's sun exposure and sunburn history, and a few questions about knowledge, attitudes and protective activities were also included. One fifth of the children had been severely sunburnt at least once. Thirty-six percent of all children had been abroad on vacation to a sunny resort. More knowledge among parents increased the likelihood that the child was properly protected when in the sun, and parents own time in the sun was positively related to child's time in the sun. Being of the opinion that children look healthier when tanned was also positively associated with child sunburn. Thirty-five percent of all parents spent two hours or more in the sun during peak hours (11a.m. - 3p.m.) on a typical work-free day in the summer, and almost 10% of all parents had their children exposed to the sun for two hours or more during peak hours. We conclude that children in Sweden seem to get exposed to extensive sun exposure very early in life. Information and increased knowledge among parents to young children seems to be a potential way of increasing sun protection behaviour and decrease sun exposure among very young children.

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

    PubMed

    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.

  8. Large, larger, largest--a family of cluster-based tantalum copper aluminides with giant unit cells. II. The cluster structure.

    PubMed

    Conrad, Matthias; Harbrecht, Bernd; Weber, Thomas; Jung, Daniel Y; Steurer, Walter

    2009-06-01

    This is the second of two papers, where we discuss the cluster structures 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 A3 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. The structures can be described as packings of clusters such as fullerenes, dodecahedra, pentagonal bifrusta and Friauf polyhedra. A characteristic feature of the two larger structures are nets of hexagonal bipyramidal Ta clusters (h.b.p.). The extremely short distance of 2.536-2.562 A between their apical Ta atoms indicates unusually strong bonding. The large h.b.p. nets are sandwiched between slabs of Friauf polyhedra resembling the structure of the mu phase. PMID:19461141

  9. Swedish Art Song: A Singer's Handbook to Diction and Repertoire

    ERIC Educational Resources Information Center

    Hersey, Anna Christine

    2012-01-01

    This essay is a guide to Swedish lyric diction for American singers. An overview of the linguistic traits and basic grammar of the Swedish language prepares the reader for a detailed description of Swedish phonemes and their occurrence in the language. Differences in pronunciation conventions as they pertain to classical singing, particularly the…

  10. Follow - on activities to the Swedish severe accident mitigation program

    SciTech Connect

    Lowenhielm, G.; Espefalt, R. ); Soderman, E. )

    1992-01-01

    Due to the government requirements severe accident mitigating measures were implemented at Barseback nuclear power plant in 1985 and at the other Swedish nuclear power plants in 1988. For the latter plants these measures included protection against early containment impairment, highly redundant containment spray and filtered venting of the containment. Accident management strategies and corresponding documents were developed to counteract a severe accident situation. This document describes accident management strategies at Swedish nuclear power plants and our ongoing program for further development of the accident management program. Also ongoing research concerning phenomenological issues, such as direct containment heating, hydrogen deflagration and corium coolability is presented.

  11. X: a case study of a Swedish neo-Nzi and his reintegration into Swedish society.

    PubMed

    Stern, Jessica Eve

    2014-01-01

    This article provides a case study of a Swedish neo-Nazi and the reintegration program being provided to him. During an extensive interview that took place over two days, he told a researcher that he was interested in having a violent adventure, and that he was drawn to Nazi symbols and history more than their creed. In comparison with ordinary crime, terrorist crime is quite rare, and access to detailed case studies is rarer still, making the development of a prospective risk-assessment instrument extremely difficult. Researchers' "thick descriptions" of their encounters with terrorists can help us to develop putative risk factors which can then be tested against controls. The article concludes by arguing that just as there is no single pathway into or out of terrorism, there can be no single reintegration program. A series of thick descriptions is a first step toward understanding what leads individuals into and out of terrorism.

  12. X: a case study of a Swedish neo-Nzi and his reintegration into Swedish society.

    PubMed

    Stern, Jessica Eve

    2014-01-01

    This article provides a case study of a Swedish neo-Nazi and the reintegration program being provided to him. During an extensive interview that took place over two days, he told a researcher that he was interested in having a violent adventure, and that he was drawn to Nazi symbols and history more than their creed. In comparison with ordinary crime, terrorist crime is quite rare, and access to detailed case studies is rarer still, making the development of a prospective risk-assessment instrument extremely difficult. Researchers' "thick descriptions" of their encounters with terrorists can help us to develop putative risk factors which can then be tested against controls. The article concludes by arguing that just as there is no single pathway into or out of terrorism, there can be no single reintegration program. A series of thick descriptions is a first step toward understanding what leads individuals into and out of terrorism. PMID:24711284

  13. FAMILY CECIDOMYIIDAE.

    PubMed

    Maia, Valéria Cid

    2016-01-01

    This large family is poorly known in Colombia, where only 44 species have been recorded in 20 genera. All of them are included in Cecidomyiinae, which is the most diverse subfamily of gall midges in number of species and feeding habits, including phytophagous, predaceous and fungivorous species. Most of them are galler. The other subfamilies have never been recorded in this country.

  14. FAMILY CECIDOMYIIDAE.

    PubMed

    Maia, Valéria Cid

    2016-01-01

    This large family is poorly known in Colombia, where only 44 species have been recorded in 20 genera. All of them are included in Cecidomyiinae, which is the most diverse subfamily of gall midges in number of species and feeding habits, including phytophagous, predaceous and fungivorous species. Most of them are galler. The other subfamilies have never been recorded in this country. PMID:27395254

  15. Effectiveness of Implant Therapy Analyzed in a Swedish Population

    PubMed Central

    Derks, J.; Håkansson, J.; Wennström, J.L.; Tomasi, C.; Larsson, M.; Berglundh, T.

    2015-01-01

    Treatment outcomes in implant dentistry have been mainly assessed as implant survival rates in small, selected patient groups of specialist or university clinical settings. This study reports on loss of dental implants assessed in a large and randomly selected patient sample. The results were aimed at representing evaluation of effectiveness of implant dentistry. Using the national data register of the Swedish Social Insurance Agency, 4,716 patients were randomly selected. All had been provided with implant-supported restorative therapy in 2003. Patient files of 2,765 patients (11,311 implants) were collected from more than 800 clinicians. Information on patients, treatment procedures, and outcomes related to the implant-supported restorative therapy was extracted from the files. In total, 596 of the 2,765 subjects, provided with 2,367 implants, attended a clinical examination 9 y after therapy. Implant loss that occurred prior to connection of the supraconstruction was scored as an early implant loss, while later occurring loss was considered late implant loss. Early implant loss occurred in 4.4% of patients (1.4% of implants), while 4.2% of the patients who were examined 9 y after therapy presented with late implant loss (2.0% of implants). Overall, 7.6% of the patients had lost at least 1 implant. Multilevel analysis revealed higher odds ratios for early implant loss among smokers and patients with an initial diagnosis of periodontitis. Implants shorter than 10 mm and representing certain brands also showed higher odds ratios for early implant loss. Implant brand also influenced late implant loss. Implant loss is not an uncommon event, and patient and implant characteristics influence outcomes (ClinicalTrials.gov NCT01825772). PMID:25503901

  16. Human KZNF Gene Catalog - A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors

    DOE Data Explorer

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

    Kruppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotes. KRAB-ZNF proteins, in which a potent repressor domain is attached to a tandem array of DNA-binding zinc-finger motifs, are specific to tetrapod vertebrates and represent the largest class of ZNF proteins in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the genome sequence for key motifs and then constructed and manually curated gene models incorporating those sequences. The resulting gene catalog contains 423 KRAB-ZNF protein-coding loci, yielding alternative transcripts that altogether predict at least 742 structurally distinct proteins. Active rounds of segmental duplication, involving single genes or larger regions and including both tandem and distributed duplication events, have driven the expansion of this mammalian gene family. Comparisons between the human genes and ZNF loci mined from the draft mouse, dog, and chimpanzee genomes not only identified 103 KRAB-ZNF genes that are conserved in mammals but also highlighted a substantial level of lineage-specific change; at least 136 KRAB-ZNF coding genes are primate specific, including many recent duplicates. KRAB-ZNF genes are widely expressed and clustered genes are typically not coregulated, indicating that paralogs have evolved to fill roles in many different biological processes. To facilitate further study, we have developed a Web-based public resource with access to gene models, sequences, and other data, including visualization tools to provide genomic context and interaction with other public data sets. [This abstract was copied from: S Huntley, DM Baggott, AT Hamilton, M Tran-Gyamfi, S Yang, J Kim, L Gordon, E Branscomb, and L Stubbs. 2006. A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors, Genome Research 16(5):669 - 677] The website provides the

  17. Widespread waterborne pollution in central Swedish lakes and the Baltic Sea from pre-industrial mining and metallurgy.

    PubMed

    Bindler, Richard; Renberg, Ingemar; Rydberg, Johan; Andrén, Thomas

    2009-07-01

    Metal pollution is viewed as a modern problem that began in the 19th century and accelerated through the 20th century; however, in many parts of the globe this view is wrong. Here, we studied past waterborne metal pollution in lake sediments from the Bergslagen region in central Sweden, one of many historically important mining regions in Europe. With a focus on lead (including isotopes), we trace mining impacts from a local scale, through a 120-km-long river system draining into Mälaren--Sweden's third largest lake, and finally also the Baltic Sea. Comparison of sediment and peat records shows that pollution from Swedish mining was largely waterborne and that atmospheric deposition was dominated by long-range transport from other regions. Swedish ore lead is detectable from the 10th century, but the greatest impact occurred during the 16th-18th centuries with improvements occurring over recent centuries, i.e., historical pollution > modern industrial pollution.

  18. Creating egalitarian families among the adult children of Turkish- and Polish-origin immigrants in Sweden.

    PubMed

    Goldscheider, Fran; Goldscheider, Calvin; Bernhardt, Eva M

    2011-01-01

    This article analyzes the factors shaping egalitarian family relationships among those with two Swedish-born parents and those with at least one parent born in Poland or Turkey. We ask: (1) What factors affect sharing domestic tasks and do they also shape the division of child care responsibilities? (2) Do these effects differ, depending on the extent of exposure to Swedish life? We analyze data from a longitudinal survey conducted between 1999 and 2003. Holding egalitarian work–family attitudes affects actual sharing of housework, but much more for those growing up in more socially integrated than in less integrated families.

  19. Psychosocial functioning in a group of Swedish adults with Asperger syndrome or high-functioning autism.

    PubMed

    Engström, I; Ekström, L; Emilsson, B

    2003-03-01

    This study reports on psychosocial functioning in Swedish adults with Asperger syndrome (AS) or high-functioning autism (HFA). A systematically selected sample of patients and relatives was interviewed concerning their psychosocial situation. The majority was living independently. All persons but one were unemployed. None was married and none had children. Only a few had some kind of partner. Most persons needed a high level of public and/or private support. The overall adjustment was rated good in 12 percent, fair in 75 percent and poor in 12 percent. Adult persons with AS/HFA have extensive need for support from their families and/or society. This information is important in order to provide adequate interventions that are in accordance with the expressed needs of the individuals themselves.

  20. Perceptions of risk, dilemmas of policy: nuclear fallout in Swedish Lapland.

    PubMed

    Beach, H

    1990-01-01

    This paper concerns risk perceptions of Swedish Saami reindeer herders in conjunction with the Chernobyl nuclear disaster. Focus is also placed upon their experiences of damage and their efforts to deal with these problems. Data relating to these social aspects of the Chernobyl event come from interviews with members of Saami herding families. The initial governmental policy of establishing a simple contamination limit for the marketability of all foodstuffs was beset with shortcomings. I propose that all contaminated foods should be labeled with contamination specifications along a fully graded scale. In addition, there should be consumer education and recommendations for the entire population, not just one segment. An absolutely necessary step in the construction of valid policies is the health calibration of low-dose radiation. Without such knowledge, any marketability limit is suspect. With such knowledge, policy can be firmly based on human health.

  1. Family Formation and Men's and Women's Attainment of Workplace Authority

    ERIC Educational Resources Information Center

    Bygren, Magnus; Gahler, Michael

    2012-01-01

    Using Swedish panel data, we assess whether the gender gap in supervisory authority has changed during the period 1968-2000, and investigate to what extent the gap can be attributed to gender-specific consequences of family formation. The results indicate that the gap has narrowed modestly during the period, and that the life-event of parenthood…

  2. Medical History, Lifestyle, Family History, and Occupational Risk Factors for Diffuse Large B-Cell Lymphoma: The InterLymph Non-Hodgkin Lymphoma Subtypes Project

    PubMed Central

    Kricker, Anne; Paltiel, Ora; Flowers, Christopher R.; Wang, Sophia S.; Monnereau, Alain; Blair, Aaron; Maso, Luigino Dal; 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.

    2014-01-01

    Background 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. Methods 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. Results 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/m2), 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 <18.5 vs 18.5 to 22.4 kg/m2), hormone replacement 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 >400kg 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

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

    PubMed

    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.

  4. The Discovery of the Social Life of Swedish Schoolchildren

    ERIC Educational Resources Information Center

    Larsson, Anna

    2012-01-01

    This article demonstrates the "discovery of the social life of schoolchildren" by showing how an interest for children's peer relations emerged in a Swedish educational and medial context. Drawing on historical and sociological childhood studies, the article analyses the concept of schoolchildren's social life in the 1950s, 1960s and 1970s in…

  5. Non-Native Speakers Learning Swedish Together in Virtual Interaction

    ERIC Educational Resources Information Center

    Bergman, Hilkka; Tedremaa-Levorato, Kristiina

    2013-01-01

    This paper aims to give an overview of a cooperation project launched three years ago, under which students who study Swedish at two universities across the Baltic Sea have a chance to complete a part of relevant courses in their study programmes together in an online course. The primary goals of joint studying are: to encourage students from…

  6. A Perspective on Diversity, Equality and Equity in Swedish Schools

    ERIC Educational Resources Information Center

    Johansson, Olof; Davis, Anna; Geijer, Luule

    2007-01-01

    This study presents policy and theory as they apply to diversity, equality and equity in Swedish social and educational policy. All education in Sweden should, according to the curriculum (Lpo 94, 1994, p. 5) be of equivalent value, irrespective of where in the country it is provided and education should be adapted to each pupil's circumstances…

  7. Parental Governmentality: Involving "Immigrant Parents" in Swedish Schools

    ERIC Educational Resources Information Center

    Dahlstedt, Magnus

    2009-01-01

    In Sweden, calls for partnership between state institutions and local communities punctuate discussions of a number of areas of public policy. In this article, the discourse of partnership is analyzed in recent developments in Swedish educational policy, and particularly the involvement of "immigrant parents" as partners collaborating with the…

  8. Institutional Response to the Swedish Model of Quality Assurance.

    ERIC Educational Resources Information Center

    Nilsson, Karl-Axel; Wahlen, Staffan

    2000-01-01

    Evaluates the Swedish model of quality assurance of higher education by examining the response of institutions to 27 quality audits and 19 follow-up interviews. Discusses the relationship between top-down and bottom-up approaches to internal quality assurance and suggests that, with growing professionalization, more limited result-oriented audits…

  9. Swedish Behavioural Science Research Reports, 1981/1982. (Beteendevetenskapliga Rapporter).

    ERIC Educational Resources Information Center

    Jungskar, Marianne, Ed.

    The 1981-1982 annual abstract publication on Swedish behavioral science research reports is presented. The collection of data was completed on May 15, 1982. The reports are grouped in categories according to Psychological Abstracts and EUDISED Thesaurus (multilingual thesaurus for information processing in the field of education). The ERIC…

  10. Swedish Behavioural Science Research Reports, 1980/81. (Beteendevetenskapliga Rapporter).

    ERIC Educational Resources Information Center

    National Library for Psychology and Education, Stockholm (Sweden).

    The 1980-81 annual abstract publication on Swedish behavioral science research reports is presented. The collection of data was completed on May 1, 1981. The more than 300 reports are grouped in categories according to Psychological Abstracts and EUDISED Thesaurus (multilingual thesaurus for information processing in the field of education). The…

  11. Swedish Behavioural Science Research Reports. Beteendevetenskapliga Rapporter, 1982/1983.

    ERIC Educational Resources Information Center

    Jungskar, Marianne, Ed.

    This is the 1982-83 version of an annual catalogue of abstracts of the research reports published by the institutes of psychology and education in universities and teacher training colleges in Sweden. The abstracts are in English. (Abstracts of both English and Swedish papers are included.) The reports are grouped into the following broad subjects…

  12. Mentally disordered criminal offenders in the Swedish criminal system.

    PubMed

    Svennerlind, Christer; Nilsson, Thomas; Kerekes, Nóra; Andiné, Peter; Lagerkvist, Margareta; Forsman, Anders; Anckarsäter, Henrik; Malmgren, Helge

    2010-01-01

    Historically, the Swedish criminal justice system conformed to other Western penal law systems, exempting severely mentally disordered offenders considered to be unaccountable. However, in 1965 Sweden enforced a radical penal law abolishing exceptions based on unaccountability. Mentally disordered offenders have since then been subjected to various forms of sanctions motivated by the offender's need for care and aimed at general prevention. Until 2008, a prison sentence was not allowed for offenders found to have committed a crime under the influence of a severe mental disorder, leaving forensic psychiatric care the most common sanction in this group. Such offenders are nevertheless held criminally responsible, liable for damages, and encumbered with a criminal record. In most cases, such offenders must not be discharged without the approval of an administrative court. Two essentially modern principles may be discerned behind the "Swedish model": first, an attempted abolishment of moral responsibility, omitting concepts such as guilt, accountability, atonement, and retribution, and, second, the integration of psychiatric care into the societal reaction and control systems. The model has been much criticized, and several governmental committees have suggested a re-introduction of a system involving the concept of accountability. This review describes the Swedish special criminal justice provisions on mentally disordered offenders including the legislative changes in 1965 along with current proposals to return to a pre-1965 system, presents current Swedish forensic psychiatric practice and research, and discusses some of the ethical, political, and metaphysical presumptions that underlie the current system.

  13. Swedish Educational Policy and Reforms--Intention versus Reality.

    ERIC Educational Resources Information Center

    Odin, Bjorn

    1987-01-01

    Swedish school reform since the 1970s has involved a shift in policy and underlying values throughout the entire implementation process. Educational reform has broken into loosely connected fragments with relevant reform makers at all educational levels. Despite a newly decentralized process, observed changes are not really structural. Includes…

  14. Effective Mathematics Teaching in Finnish and Swedish Teacher Education Discourses

    ERIC Educational Resources Information Center

    Hemmi, Kirsti; Ryve, Andreas

    2015-01-01

    This article explores effective mathematics teaching as constructed in Finnish and Swedish teacher educators' discourses. Based on interview data from teacher educators as well as data from feedback discussions between teacher educators and prospective teachers in Sweden and Finland, the analysis shows that several aspects of the recent…

  15. Arts Education in Swedish Teacher Training--What's at Stake?

    ERIC Educational Resources Information Center

    Lindgren, Monica; Ericsson, Claes

    2011-01-01

    Swedish teacher education has undergone several reforms in recent decades aimed at incorporating teacher education into the university setting and strengthening the teaching profession. In view of earlier research that has shown how arts education in schools is ruled by dominant knowledge ideologies, the purpose of the project is to critically…

  16. Swedish Preschool Leadership--Supportive of Music or Not?

    ERIC Educational Resources Information Center

    Ehrlin, Anna

    2015-01-01

    This study uses observations and interviews to investigate how the leadership at three Swedish preschools in Sweden has impacted the didactic choices made. Two of these preschools use music as a tool for stimulating language and social development, while the third preschool serves as a comparison. The inspiration that the leadership has brought to…

  17. Swedish Schools and Gender Equality in the 1970s

    ERIC Educational Resources Information Center

    Hedlin, Maria

    2013-01-01

    In Sweden, as in many countries before Sweden, boys' academic achievements are getting considerable attention as the big gender issue. The Swedish gender equality policy that was put on the agenda in the 1970s is now associated with extreme discussions. This study aims to explore how gender equality was discussed in the 1970s, in connection with…

  18. Students with Reading Difficulties/Dyslexia: A Longitudinal Swedish Example

    ERIC Educational Resources Information Center

    Mattson, Eva Heimdahl; Fischbein, Siv; Roll-Pettersson, Lise

    2010-01-01

    The aim of this study was to investigate the longitudinal development of students having difficulties with reading and their decoding ability in Swedish compulsory school. Another aim was to relate this to the experiences of educational activities expressed by students and parents. The decoding ability was assessed by a word chain test given at…

  19. Personal and Ethnic Identity in Swedish Adolescents and Emerging Adults

    ERIC Educational Resources Information Center

    Ferrer-Wreder, Laura; Trost, Kari; Lorente, Carolyn Cass; Mansoory, Shahram

    2012-01-01

    The chapter describes empirical evidence about identity development in Swedish adolescents and emerging adults and highlights cultural and contextual influences that may be specific to coming of age in Sweden. Broad trends in identity options are evident in the lives of many youth living in Sweden. Although research on identity and diversity is in…

  20. Swedish approaches to radiation protection at nuclear power stations

    SciTech Connect

    Knapp, P.; Miller, D.W.

    1996-06-01

    This paper compares Swedish health physics programs at nuclear power plants to U.S. programs. Analysis of the Swedish programs includes examination of health physics staff training, size and longevity. Health physics practices are discussed, especially practices during refueling outages. The paper is based on site visits to Ringhals and Oskarshamn by U.S. radiation protection managers in October, 1995, under the sponsorship of the North American Regional Technical Center, ISOE, NEA/IAEA. The reactor vessel decontamination at Oskarshamn 1 BWR is discussed including good health physics practices and radiological results. Ringhals unique management organization is discussed with respect to health physics division of responsibilities and differences between in-plant and on-site health physics groups. Analytical results of failed fuel events at Ringhals is also presented including the observed occurrence of cobalt knock-off. Finally, trends in Swedish plants collective doses are summarized. Comprehensive Swedish studies of potential collective doses over the next 20 years are discussed including management options related to dose reduction options.

  1. An Individual Educational Investment Account: A Swedish Proposal.

    ERIC Educational Resources Information Center

    Eliasson, Gunnar

    1994-01-01

    For mature industrialized nations to meet the challenge of shifting to a high value added technology base, excellence in three areas is needed: (1) education, (2) labor market performance, and (3) social insurance. A Swedish proposal that would allow individuals to take responsibility for their own future is the individual educational investment…

  2. Implementing Test Enhanced Learning: Swedish Teacher Students' Perception of Quizzing

    ERIC Educational Resources Information Center

    Nyroos, Mikaela; Schéle, Ingrid; Wiklund-Hörnqvist, Carola

    2016-01-01

    Given previous findings on test enhanced learning, the present study examined the implementation of this practice in terms of quizzing, during the progress of a course. After completing the university course, 88 Swedish teacher students were asked to answer an adapted Retrieval Practice and Test Anxiety Survey. The results showed that students…

  3. Management by Objectives: The Swedish Experience in Upper Secondary Schools

    ERIC Educational Resources Information Center

    Lindberg, Erik; Wilson, Timothy L.

    2011-01-01

    Purpose: This paper seeks to explore how managing by objectives (MBO) has been adopted in Swedish schools and to reflect on some of the consequences in a longitudinal study. Results relate to whether introduction has increased student performance and whether it works as a tool for the principals to create more effective schools.…

  4. Resisting Focalisation, Gaining Empathy: Swedish Teenagers Read Irish Fiction

    ERIC Educational Resources Information Center

    Fjällström, Eva; Kokkola, Lydia

    2015-01-01

    Resisting the will to empathise with a focalised character is assumed to be difficult for young readers, yet empirical evidence on how they actually respond is limited. This paper combines recent insights gleaned from cognitive literary studies with a small-scale empirical study of thirty-five Swedish adolescents reading an Irish short story in…

  5. Managing Questions: Data from Second Language Learners of Swedish.

    ERIC Educational Resources Information Center

    Butler-Wall, Brita

    This research deals with a series of preliminary studies of the management of questions by second language learners of Swedish. Question management here refers to the ability to produce an utterance which successfully elicits a response from an interlocutor, and the ability to determine correctly when a response is required. The three exploratory…

  6. Economic valuation for sustainable development in the Swedish coastal zone.

    PubMed

    Söderqvist, Tore; Eggert, Håkan; Olsson, Björn; Soutukorva, Asa

    2005-03-01

    The Swedish coastal zone is a scene of conflicting interests about various goods and services provided by nature. Open-access conditions and the public nature of many services increase the difficulty in resolving these conflicts. "Sustainability" is a vague but widely accepted guideline for finding reasonable trade-offs between different interests. The UN view of sustainable development suggests that coastal zone management should aim at a sustainable ecological, economic, and social-cultural development. Looking closer at economic sustainability, it is observed that economic analyses about whether changes in society imply a gain or a loss should take into account the economic value of the environment. Methods used for making such economic valuation in the context of the Swedish coastal zone are briefly reviewed. It is noted that the property rights context matters for the results of a valuation study. This general background is followed by a concise presentation of the design and results of four valuation studies on Swedish coastal zone issues. One study is on the economic value of an improved bathing water quality in the Stockholm archipelago. The other studies are a travel cost study about the economic value of improved recreational fisheries in the Stockholm archipelago, a replacement cost study on the value of restoring habitats for sea trout, and a choice experiment study on the economic value of improved water quality along the Swedish westcoast.

  7. Career Interruptions and Subsequent Earnings: A Reexamination Using Swedish Data.

    ERIC Educational Resources Information Center

    Albrecht, James W.; Edin, Per-Anders; Sundstrom, Marianne; Vroman, Susan B.

    1999-01-01

    Cross-sectional and panel estimations of Swedish data reveal that different types of career interruptions have different effects on wages, varying by gender. Therefore, human capital depreciation does not entirely account for the negative effect of career interruptions on subsequent wages. (SK)

  8. Efficiency in Swedish Public Education: Competition and Voter Monitoring

    ERIC Educational Resources Information Center

    Waldo, Staffan

    2007-01-01

    Sweden reformed public education in 1991-1993. A system with private school competition was introduced and the production of public education was decentralized from central to local government. One of the aims with this reform was to increase efficiency in the production of education. In this paper, efficiency in Swedish public education is…

  9. Swedish Lower Secondary School Teachers' Perceptions and Experiences Regarding Homework

    ERIC Educational Resources Information Center

    Gu, Limin; Kristoffersson, Margaretha

    2015-01-01

    This study investigates homework in Swedish lower secondary schools: teachers' perceptions and experiences about it and their understanding of its potentials and challenges for students' learning and development. Data collected through an online survey (N = 201) mixed standardized questions and open questions. Descriptive statistics and…

  10. English as a Transcultural Language in Swedish Policy and Practice

    ERIC Educational Resources Information Center

    Hult, Francis M.

    2012-01-01

    The globalization of English in Sweden is examined as it takes shape in educational policy and practice. Following in the tradition of a "new wave" of language policy and planning research that emphasizes connections between policy and how it is interpreted by local stakeholders, this investigation focuses on textual data from Swedish national…

  11. LANDSAT language at our reach. First Swedish satellite. Civilization detectors

    NASA Technical Reports Server (NTRS)

    Wayne, D. L.; Bravo, V.

    1981-01-01

    Information on the use of LANDSAT data by Argentina is presented. Details on a Swedish satellite to be completed in 1984 and to be called VIKING are reported. Attempts to contact other civilizations in space by the use of radiotelescopes are discussed.

  12. Swedish experiences in implementing national and international safeguards

    SciTech Connect

    Nilsson, A. ); Elborn, M. ); Grahn, P. )

    1991-01-01

    This paper reports that international safeguards have been applied in Sweden since the early 70s. Experiences have been achieved from exclusive bilateral and trilateral control followed by NPT safeguards in 1975. The Swedish State System for accountancy and Control (SSAC) includes all regulations that follows from prevailing obligations regarding the peaceful uses of nuclear material. The system has been developed in cooperation between the national authority, the Swedish Nuclear Power Inspectorate (SKI) and the Swedish nuclear industry. The paper presents experiences from the practical implementation of the SSAC and the IAEA safeguards system, gained by the SKI and the nuclear industry, respectively. Joint approaches and solutions to some significant safeguards issues are presented. The cooperation between the nuclear industry and the authority in R and D activities, in particular with respect to the Swedish Support Program is highlighted, e.g. the use of nuclear facilities in development or training tasks. some of the difficulties encountered with the system are also touched upon.

  13. Economic valuation for sustainable development in the Swedish coastal zone.

    PubMed

    Söderqvist, Tore; Eggert, Håkan; Olsson, Björn; Soutukorva, Asa

    2005-03-01

    The Swedish coastal zone is a scene of conflicting interests about various goods and services provided by nature. Open-access conditions and the public nature of many services increase the difficulty in resolving these conflicts. "Sustainability" is a vague but widely accepted guideline for finding reasonable trade-offs between different interests. The UN view of sustainable development suggests that coastal zone management should aim at a sustainable ecological, economic, and social-cultural development. Looking closer at economic sustainability, it is observed that economic analyses about whether changes in society imply a gain or a loss should take into account the economic value of the environment. Methods used for making such economic valuation in the context of the Swedish coastal zone are briefly reviewed. It is noted that the property rights context matters for the results of a valuation study. This general background is followed by a concise presentation of the design and results of four valuation studies on Swedish coastal zone issues. One study is on the economic value of an improved bathing water quality in the Stockholm archipelago. The other studies are a travel cost study about the economic value of improved recreational fisheries in the Stockholm archipelago, a replacement cost study on the value of restoring habitats for sea trout, and a choice experiment study on the economic value of improved water quality along the Swedish westcoast. PMID:15865316

  14. Working with Gender Pedagogics at 14 Swedish Preschools

    ERIC Educational Resources Information Center

    Sandstrom, Margareta; Stier, Jonas; Sandberg, Anette

    2013-01-01

    In Sweden, gender pedagogics has been on the political agenda the last decade. Consequently, gender matters have been given much attention in Swedish preschools, and specialized pedagogues have also been trained to counteract socially constructed gender distinctions. Therefore, we have explored the enactment of gender pedagogics. We asked 17…

  15. Architects of Their Own Future? Swedish Career Guidance Policies

    ERIC Educational Resources Information Center

    Lundahl, Lisbeth; Nilsson, Goran

    2009-01-01

    Few studies have researched career guidance and information policies, particularly at the regional and local level. This article analyses Sweden's national governance of career guidance in schools from 1950 to 2007, and governance at the local level in today's highly decentralised Swedish educational system. The analysis is based on national…

  16. Social Status and Sociopolitical Ideology among Swedish Youth.

    ERIC Educational Resources Information Center

    Sidanius, Jim; And Others

    1983-01-01

    Among Swedish youth, (1) higher social status was associated with more conservative political party preferences and greater capitalist orientation, punitiveness, support of social inequality, and racism; (2) economic inequality and social conservatism emerged as discriminators of social class categories; and (3) Lipset's theory that working class…

  17. Narrative Skills in Swedish Children with Language Impairment

    ERIC Educational Resources Information Center

    Reuterskiold, Christina; Hansson, Kristina; Sahlen, Birgitta

    2011-01-01

    This study investigated the development of narrative skills in Swedish children with language impairment between age 5 and age 10. Seventeen children with LI and two control groups of age peers with typical development participated in a picture elicited story telling task. Analyses included measures of story content, cohesion and grammar. Our…

  18. A Swedish Mutual Support Society of Problem Gamblers

    ERIC Educational Resources Information Center

    Binde, Per

    2012-01-01

    Mutual support societies for problem gamblers have existed in Sweden for 20 years. They have helped more people with gambling problems than any other institution inside or outside the Swedish health care system. This paper outlines the background of these societies and describes the meetings of one of them. Data come from interviews with members…

  19. Genetic analysis of age-at-onset traits based on case-control family data.

    PubMed

    Yip, Benjamin H; Moger, Tron Anders; Pawitan, Yudi

    2010-12-30

    Family studies are a useful alternative to twin studies for disentangling genetic and environmental effects on human diseases. However, although age-at-onset traits are often of interest, family-based quantitative genetic analysis of such data is still not commonly used. One reason is that we need multiple random components to capture the genetic and environmental contributions, so it becomes hard to use the existing frailty models for correlated survival data. In this paper we consider the alternative accelerated failure-time models with random effects. The method allows both left truncation and right censoring, and it can deal with an arbitrary family structure and multiple random components. For estimation we use the h-likelihood procedure, which avoids the integration of the random effects in the marginal likelihood approach. To deal with large cohort data, we propose a case-control scheme, where we ascertain all families with at least two events and a subsample of control families. A pseudo-h-likelihood approach is used to analyse the ascertained data. We study the performance of the method using simulated data, and provide an illustration with analysis of melanoma in the Swedish population.

  20. Family carers. 1: Difficulties and levels of support in Sweden.

    PubMed

    Lundh, U

    Sweden has a well developed welfare system and until fairly recently the needs of family carers have received limited attention. However, there is now a growing acceptance of the need to provide better and more sensitive support services. Using questionnaires validated in the UK and translated into Swedish, this series of four articles considers the difficulties, satisfactions and coping mechanisms of a sample of Swedish carers, identifying the implications of the results for the design and delivery of healthcare interventions. This article focuses on carers' perceived difficulties and their satisfaction with existing levels of help.

  1. Environmental Management in Swedish Higher Education: Directives, Driving Forces, Hindrances, Environmental Aspects and Environmental Co-Ordinators in Swedish Universities

    ERIC Educational Resources Information Center

    Sammalisto, Kaisu; Arvidsson, Karin

    2005-01-01

    Purpose: This study of environment management systems implementation in Swedish universities contributes to the dialogue about the role of management systems as tools in developing sustainability in higher education. Design/methodology/approach: The empirical study is based on Government directives that make environmental management systems…

  2. A collective theory of happiness: words related to the word "happiness" in Swedish online newspapers.

    PubMed

    Garcia, Danilo; Sikström, Sverker

    2013-06-01

    It may be suggested that the representation of happiness in online media is collective in nature because it is a picture of happiness communicated by relatively few individuals to the masses. The present study is based on articles published in Swedish daily online newspapers in 2010; the data corpus comprises 1.5 million words. We investigated which words were most (un)common in articles containing the word "happiness" as compared with articles not containing this word. The results show that words related to people (by use of all relevant pronouns: you/me and us/them); important others (e.g., grandmother, mother); the Swedish royal wedding (e.g., Prince Daniel, Princess Victoria); and the FIFA World Cup (e.g., Zlatan, Argentina, Drogba) were highly recurrent in articles containing the word happiness. In contrast, words related to objects, such as money (e.g., millions, billions), bestselling gadgets (e.g., iPad, iPhone), and companies (e.g., Google, Windows), were predictive of contexts not recurrent with the word happiness. The results presented here are in accordance with findings in the happiness literature showing that relationships, not material things, are what make people happy. We suggest that our findings mirror a collective theory of happiness, that is, a shared picture or agreement, among members of a community, concerning what makes people happy. The fact that this representation is made public on such a large scale makes it collective in nature.

  3. Consumer preferences for over-the-counter drug retailers in the reregulated Swedish pharmacy market.

    PubMed

    Håkonsen, Helle; Sundell, Karolina Andersson; Martinsson, Johan; Hedenrud, Tove

    2016-03-01

    Following a large regulatory reform in 2009, which ended the state's pharmacy monopoly, non-pharmacy retailers in Sweden today sell certain over-the-counter (OTC) drugs. The aim of this study was to investigate consumer preferences regarding OTC drug retailers and the reasons for choosing a pharmacy versus non-pharmacy retailer. We conducted a web survey aimed at Swedish adults. Out of a stratified sample of 4058 persons, 2594 agreed to take part (48% women; mean age: 50.3 years). Questions related to OTC drug use, retailer choice and factors affecting the participants' preferences for OTC drug retailers. Logistic regression was conducted to analyse OTC drug use and reasons for retailer choice in relation to sex, age and education. Nine in ten participants reported OTC drug use in the 6 months prior to the study. For their last OTC purchase, 76% had gone to a pharmacy, 20% to a grocery shop and 4% to a convenience store, gas station or online. Geographic proximity, opening hours and product range were reported as the most important factors in retailer choice. Counselling by trained staff was important to 57% of participants. The end of the state's pharmacy monopoly and the increase in number of pharmacies seem to have impacted more on Swedish consumers' purchase behaviours compared with the deregulation of OTC drug sales. PMID:26861972

  4. Determination of fossil carbon content in Swedish waste fuel by four different methods.

    PubMed

    Jones, Frida C; Blomqvist, Evalena W; Bisaillon, Mattias; Lindberg, Daniel K; Hupa, Mikko

    2013-10-01

    This study aimed to determine the content of fossil carbon in waste combusted in Sweden by using four different methods at seven geographically spread combustion plants. In total, the measurement campaign included 42 solid samples, 21 flue gas samples, 3 sorting analyses and 2 investigations using the balance method. The fossil carbon content in the solid samples and in the flue gas samples was determined using (14)C-analysis. From the analyses it was concluded that about a third of the carbon in mixed Swedish waste (municipal solid waste and industrial waste collected at Swedish industry sites) is fossil. The two other methods (the balance method and calculations from sorting analyses), based on assumptions and calculations, gave similar results in the plants in which they were used. Furthermore, the results indicate that the difference between samples containing as much as 80% industrial waste and samples consisting of solely municipal solid waste was not as large as expected. Besides investigating the fossil content of the waste, the project was also established to investigate the usability of various methods. However, it is difficult to directly compare the different methods used in this project because besides the estimation of emitted fossil carbon the methods provide other information, which is valuable to the plant owner. Therefore, the choice of method can also be controlled by factors other than direct determination of the fossil fuel emissions when considering implementation in the combustion plants.

  5. Design of a Prototype Differential Die-Away Instrument Proposed for Swedish Spent Nuclear Fuel Characterization

    NASA Astrophysics Data System (ADS)

    Martinik, Tomas; Henzl, Vladimir; Grape, Sophie; Jansson, Peter; Swinhoe, Martyn T.; Goodsell, Alison V.; Tobin, Stephen J.

    2016-06-01

    As part of the United States (US) Department of Energy's Next Generation Safeguards Initiative Spent Fuel (NGSI-SF) project, the traditional Differential Die-Away (DDA) method that was originally developed for waste drum assay has been investigated and modified to provide a novel application to characterize or verify spent nuclear fuel (SNF). Following the promising, yet largely theoretical and simulation based, research of physics aspects of the DDA technique applied to SNF assay during the early stages of the NGSI-SF project, the most recent effort has been focused on the practical aspects of developing the first fully functional and deployable DDA prototype instrument for spent fuel. As a result of the collaboration among US research institutions and Sweden, the opportunity to test the newly proposed instrument's performance with commercial grade SNF at the Swedish Interim Storage Facility (Clab) emerged. Therefore the design of this instrument prototype has to accommodate the requirements of the Swedish regulator as well as specific engineering constrains given by the unique industrial environment. Within this paper, we identify key components of the DDA based instrument and we present methodology for evaluation and the results of a selection of the most relevant design parameters in order to optimize the performance for a given application, i.e. test-deployment, including assay of 50 preselected spent nuclear fuel assemblies of both pressurized (PWR) as well as boiling (BWR) water reactor type.

  6. Assessment of past exposure to man-made vitreous fibers in the Swedish prefabricated house industry.

    PubMed

    Plato, N; Gustavsson, P; Krantz, S

    1997-10-01

    Large quantities of man-made vitreous fibers (MMVF) are handled in the Swedish prefabricated wooden house industry. The present study is part of a program to investigate mortality, cancer incidence, and current as well as previous exposure to MMVF among workers in the Swedish prefabricated wooden house industry. Since measurements of historical fiber exposure levels are lacking, these were calculated by the application of a matrix of multipliers to recently measured MMVF levels. The multipliers represented changes over time in production rate, technical properties of the fibers, manual handling vs. automation, and ventilation control. The multipliers were based on a similar matrix, developed for the MMVF-manufacturing industry, which was modified to reflect the conditions in the wooden house industry. The model was developed for the highest-exposed job title in the study, insulators. One hundred and twenty samples of airborne fiber were taken in 11 plants to reflect current exposure levels. The highest mean fiber exposure level for insulators was assessed as 0.18 f/ml (geometric mean), which occurred during the mid-1970s, compared to 0.10 f/ml at the end of the 1980s and the early 1960s. Changes in production rate, improved ventilation control, and the surface area of the total amount of MMVF sheets handled per insulator were the most important variables of the model. No increased risk of lung cancer was found in the present industry. PMID:9258388

  7. Assessment of past exposure to man-made vitreous fibers in the Swedish prefabricated house industry.

    PubMed

    Plato, N; Gustavsson, P; Krantz, S

    1997-10-01

    Large quantities of man-made vitreous fibers (MMVF) are handled in the Swedish prefabricated wooden house industry. The present study is part of a program to investigate mortality, cancer incidence, and current as well as previous exposure to MMVF among workers in the Swedish prefabricated wooden house industry. Since measurements of historical fiber exposure levels are lacking, these were calculated by the application of a matrix of multipliers to recently measured MMVF levels. The multipliers represented changes over time in production rate, technical properties of the fibers, manual handling vs. automation, and ventilation control. The multipliers were based on a similar matrix, developed for the MMVF-manufacturing industry, which was modified to reflect the conditions in the wooden house industry. The model was developed for the highest-exposed job title in the study, insulators. One hundred and twenty samples of airborne fiber were taken in 11 plants to reflect current exposure levels. The highest mean fiber exposure level for insulators was assessed as 0.18 f/ml (geometric mean), which occurred during the mid-1970s, compared to 0.10 f/ml at the end of the 1980s and the early 1960s. Changes in production rate, improved ventilation control, and the surface area of the total amount of MMVF sheets handled per insulator were the most important variables of the model. No increased risk of lung cancer was found in the present industry.

  8. A collective theory of happiness: words related to the word "happiness" in Swedish online newspapers.

    PubMed

    Garcia, Danilo; Sikström, Sverker

    2013-06-01

    It may be suggested that the representation of happiness in online media is collective in nature because it is a picture of happiness communicated by relatively few individuals to the masses. The present study is based on articles published in Swedish daily online newspapers in 2010; the data corpus comprises 1.5 million words. We investigated which words were most (un)common in articles containing the word "happiness" as compared with articles not containing this word. The results show that words related to people (by use of all relevant pronouns: you/me and us/them); important others (e.g., grandmother, mother); the Swedish royal wedding (e.g., Prince Daniel, Princess Victoria); and the FIFA World Cup (e.g., Zlatan, Argentina, Drogba) were highly recurrent in articles containing the word happiness. In contrast, words related to objects, such as money (e.g., millions, billions), bestselling gadgets (e.g., iPad, iPhone), and companies (e.g., Google, Windows), were predictive of contexts not recurrent with the word happiness. The results presented here are in accordance with findings in the happiness literature showing that relationships, not material things, are what make people happy. We suggest that our findings mirror a collective theory of happiness, that is, a shared picture or agreement, among members of a community, concerning what makes people happy. The fact that this representation is made public on such a large scale makes it collective in nature. PMID:23621718

  9. The Central Asiatic (Tibet, Xinjiang, Pamir) petrological collections of Sven Hedin (1865 1952) — Swedish explorer and adventurer

    NASA Astrophysics Data System (ADS)

    Weinberg, Roberto F.; Green, Owen R.

    2002-02-01

    During a 42 year period (1893-1935), the Swedish explorer Sven Hedin led and co-ordinated four expeditions to remote and inhospitable parts of Central Asia (Tibet, Xinjiang, Pamir). Along with collaborators he collected a diverse collection of just under 3100 petrological specimens. Petrographic examples of high pressure metamorphic blueschists, mantle peridotites and serpentinites, granitoids, K-rich alkaline lavas, mylonites, and a range of clastic and fossil rich carbonate sedimentary rocks are present. This collection is a major asset for scientists studying the history of continental collision between India and Asia, and the uplift of the Tibetan plateau. A spreadsheet listing all the samples collected during Hedin's first three expeditions into Tibet (commencing 1893, 1899, 1906) includes a brief description and location of each specimen, with additional information on the availability of thin sections. Samples are cross-referenced with the geographical position of Hedin's campsites indicated on maps published with his extensive reports. Most samples, and a number of thin sections, are available for loan from the Swedish Museum of Natural History, Stockholm. We also describe a smaller collection of specimens and thin sections from Hedin's fourth (1927-35, Sino-Swedish) expedition, currently housed at the Institute of Earth Sciences, Uppsala University. Hedin's career as an explorer, highlighting the geological significance of his work and the reasons that it has remained largely ignored by the majority of Himalayan and Central Asian researchers for so many years, is outlined.

  10. Autosomal dominant Kufs` disease: Clinical heterogeneity in nine families, and exclusion of linkage to CLN1 and CLN3 markers in a large American kindred

    SciTech Connect

    Andermann, F.; Andermann, E.; Carpenter, S.

    1994-09-01

    Most forms of neuronal ceroid lipofuscinosis (NCL) are autosomal recessive, and three genes have already been mapped: the infantile form (CLN 1); the juvenile form (CLN 3); and the early juvenile variant (CLN 5) on chromosomes 1, 16 and 13, respectively. Kufs` disease or adolescent-adult onset NCL is usually inherited as an autosomal recessive trait, and presents as three distinct clinical syndromes: progressive myoclonus epilepsy (PME) with onset in the early teens or around age 30; and onset of dementia with motor disability in the 30s. We have studied three families originating from different parts of the USA manifesting dominantly inherited Kufs` disease. Granular osmophilic deposits (GROD) were found in brain, but storage in skin was not an obligatory feature. Six dominantly inherited PME families have been ascertained from three different regions of Spain. No storage was found in skin or muscle in any of these families. The mean age of onset in the American families is earlier, the clinical manifestations more severe, and the progression much more rapid that in the Spanish families. These findings would suggest the possibility of genetic heterogeneity involving two or more loci, or different mutations at the same gene locus. Genetic linkage studies have been carried out in a six-generation New Jersey family in an attempt to characterize the gene(s) responsible for this disorder. The infantile NCL locus on chromosome 1p (CLN1) and the juvenile NCL locus on chromosome 16p (CLN 3) have been excluded in this family. Further clinical, pathological and molecular genetic studies should lead to the clarification of the diagnostic approaches in this disorder.

  11. Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: Implications for genetic testing

    PubMed Central

    Papp, Janos; Kovacs, Marietta E; Olah, Edith

    2007-01-01

    AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds were tested for mutations using conformation sensitive gel electrophoreses, direct sequencing and also screening for genomic rearrangements applying multiplex ligation-dependent probe amplification (MLPA). RESULTS: Eighteen germline mutations (50%) were identified, 9 in MLH1 and 9 in MSH2. Sixteen of these sequence alterations were considered pathogenic, the remaining two were non-conservative missense alterations occurring at highly conserved functional motifs. The majority of the definite pathogenic mutations (81%, 13/16) were found in families fulfilling the stringent Amsterdam I/II criteria, including three rearrangements revealed by MLPA (two in MSH2 and one in MLH1). However, in three out of sixteen HNPCC-suspected families (19%), a disease-causing alteration could be revealed. Furthermore, nine mutations described here are novel, and none of the sequence changes were found in more than one family. CONCLUSION: Our study describes for the first time the prevalence and spectrum of germline mismatch repair gene mutations in Hungarian HNPCC and suspected-HNPCC families. The results presented here suggest that clinical selection criteria should be relaxed and detection of genomic rearrangements should be included in genetic screening in this population. PMID:17569143

  12. Further Evidence for Robust Familiality of Pediatric Bipolar-I Disorder: Results from a Very Large Controlled Family Study of Pediatric Bipolar-I Disorder and a Meta-Analysis

    PubMed Central

    Wozniak, Janet; Faraone, Stephen V.; Martelon, MaryKate; McKillop, Hannah N.; Biederman, Joseph

    2013-01-01

    Objective To determine the risk for BP-I disorder in first-degree relatives of children with DSM-IV bipolar-I disorder (BP-I) via meta-analysis and expanded controlled study. Data Sources and Extraction Meta-Analysis We searched the Pubmed database for scientific articles published in the world literature in the English language through 2011. The key words searched were: bipolar disorder, first-degree relatives, family study, control. All online abstracts were reviewed and relevant full manuscripts were collected and reviewed. Citations were also examined for other potential relevant articles. We included only controlled family studies that examined rates of bipolar-I disorder in all first-degree relatives (parents and siblings) of pediatric bipolar-I probands and included only studies that had age and sex matched controls. Family history studies were excluded. Also excluded were studies that were not in English, did not report the rates of all first-degree relatives, and reported only bipolar spectrum rates. We also excluded family studies that included only adult probands. We conducted a meta-analysis of the five controlled family studies of pediatric BP-I probands that met our search criteria using the random effects model of DerSimonian and Laird. Method Family Study We greatly expanded our previous sample of DSM-IV BP-I probands using structured diagnostic interviews. Our new study included 239 children satisfying full with DSM-IV diagnostic criteria for BP-I (n=726 first-degree relatives), 162 ADHD (without BP-I) probands (n=511 first-degree relatives), and 136 healthy control (without ADHD or BP-I) probands (n=411 first-degree relatives). We used the Kaplan-Meier cumulative failure function to calculate survival curves and cumulative, lifetime risk in relatives. Cox proportional hazard models were used to calculate the risk of BP-I in relatives. Results The pooled odds ratio for BP-I disorder in relatives was estimated to be 6.96 (95% Confidence Interval (CI

  13. Incidence of hand eczema in female Swedish hairdressers

    PubMed Central

    Lind, Marie‐Louise; Albin, Maria; Brisman, Jonas; Diab, Kerstin Kronholm; Lillienberg, Linnéa; Mikoczy, Zoli; Nielsen, Jörn; Rylander, Lars; Torén, Kjell; Meding, Birgitta

    2007-01-01

    Objective To estimate the occurrence of hand eczema in hairdressers in Sweden. Methods The occurrence of hand eczema was estimated in a Swedish longitudinal retrospective cohort study including all female graduates from vocational schools for hairdressers from 1970 to 1995. A stratified sample from the general population acted as controls. A self‐administered questionnaire including questions on the occurrence of hand eczema, skin atopy, working periods and number of hair treatments performed per week was sent to the participants. Incidence rate ratios (IRRs) of hand eczema were estimated. Results The incidence rate of hand eczema in hairdressers was 23.8 cases/1000 person‐years, whereas in hairdressers who were aged <25 years it was 37.1/1000 person‐years. The corresponding IRR for hairdressers compared with controls was 2.5 (95% confidence interval (CI) 2.2 to 2.8), and that for younger hairdressers was 3.1 (95% CI 2.6 to 3.5). The mean age at onset of hand eczema was 21.6 years for hairdressers and 21.2 years for controls. The 1‐year prevalence of hand eczema was 18.0% for hairdressers and 12.1% for controls. A large number of hair treatments involving exposure to skin irritants and sensitisers were reported. The incidence rate of hand eczema was higher among individuals with a history of childhood eczema, both for hairdressers and for controls, giving an (age‐adjusted) IRR of 1.9 and 2.2, respectively. The attributable fraction of hand eczema from skin atopy was 9.6%. A synergistic effect of skin atopy and hairdressing was found on the occurrence of hand eczema. The relative excess risk due to interaction was 1.21 (95% CI 0.21 to 2.21; p = 0.01). Conclusion Hairdressers are highly exposed to skin‐damaging substances. The self‐reported incidence of hand eczema was substantially higher in female hairdressers than in controls from the general population and than that found previously in register‐based studies. For many individuals, onset

  14. The structure and stratigraphy of the sedimentary succession in the Swedish sector of the Baltic Basin: New insights from vintage 2D marine seismic data

    NASA Astrophysics Data System (ADS)

    Sopher, Daniel; Erlström, Mikael; Bell, Nicholas; Juhlin, Christopher

    2016-04-01

    We present five interpreted regional seismic profiles, describing the full sedimentary sequence across the Swedish sector of the Baltic Sea. The data for the study are part of an extensive and largely unpublished 2D seismic dataset acquired between 1970 and 1990 by the Swedish Oil Prospecting Company (OPAB). The Baltic Basin is an intracratonic basin located in northern Europe. Most of the Swedish sector of the basin constitutes the NW flank of a broad synclinal depression, the Baltic Basin. In the SW of the Swedish sector lies the Hanö Bay Basin, formed by subsidence associated with inversion of the Tornquist Zone during the Late Cretaceous. The geological history presented here is broadly consistent with previously published works. We observe an area between the Hanö Bay and the Baltic Basin where the Palaeozoic strata has been affected by transpression and subsequent inversion, associated with the Tornquist Zone during the late Carboniferous-Early Permian and Late Cretaceous, respectively. We propose that the Christiansø High was a structural low during the Late Jurassic, which was later inverted in the Late Cretaceous. We suggest that a fan shaped feature in the seismic data, adjacent to the Christiansø Fault within the Hanö Bay Basin, represents rapidly deposited, coarse-grained sediments eroded from the inverted Christiansø High during the Late Cretaceous. We identify a number of faults within the deeper part of the Baltic Basin, which we also interpret to be transpressional in nature, formed during the Caledonian Orogeny in the Late Silurian-Early Devonian. East of Gotland a number of sedimentary structures consisting of Silurian carbonate reefs and Ordovician carbonate mounds, as well as a large Quaternary glacial feature are observed. Finally, we use the seismic interpretation to infer the structural and stratigraphic history of the Baltic and Hanö Bay basins within the Swedish sector.

  15. Possibility to implement invasive species control in Swedish forests.

    PubMed

    Pettersson, Maria; Strömberg, Caroline; Keskitalo, E Carina H

    2016-02-01

    Invasive alien species constitute an increasing risk to forestry, as indeed to natural systems in general. This study reviews the legislative framework governing invasive species in the EU and Sweden, drawing upon both a legal analysis and interviews with main national level agencies responsible for implementing this framework. The study concludes that EU and Sweden are limited in how well they can act on invasive species, in particular because of the weak interpretation of the precautionary principle in the World Trade Organisation and Sanitary and Phytosanitary agreements. In the Swedish case, this interpretation also conflicts with the stronger interpretation of the precautionary principle under the Swedish Environmental Code, which could in itself provide for stronger possibilities to act on invasive species.

  16. Cancer risks in Swedish Lapps who breed reindeer

    SciTech Connect

    Wiklund, K.; Holm, L.E.; Eklund, G. )

    1990-12-01

    Cancer risks during the period 1961-1984 were studied in a cohort of 2,034 Swedish reindeer-breeding Lapps, a unique group whose culture and life-style differ considerably from those in the rest of the Swedish population. A total of 100 cases of cancer were observed versus 163 expected. Statistically significantly decreased risks were found for cancers of the colon, respiratory organs, female breast, male genital organs, and kidneys, and for malignant lymphomas. The stomach was the only site with a significantly increased risk. Reindeer-breeding Lapps have ingested fallout products via the lichen-reindeer-man food chain since the 1950s. However, no increased risk was found for the cancer sites considered to be most sensitive to radiation.

  17. Dengue fever in returned Swedish travelers from Thailand.

    PubMed

    Tuiskunen, Anne; Hjertqvist, Marika; Vene, Sirkka; Lundkvist, Ake

    2011-01-01

    The dengue viruses (DENV) are endemic in the tropical and sub-tropical countries and cause the most common arthropod-borne viral disease in humans. Travelers visiting endemic areas may both acquire and spread DENV infections, and this is the reason why prevention of mosquito bites is of crucial importance. Dengue fever (DF) has become the most common cause for tropical fever in Swedish tourists. Swedish data from 1995 to 2010 show that the number of DF cases has increased since the beginning of 2000; partly due to improved diagnostics based on IgM detection, and partly due to an increase in the number of tourists traveling to, and between, endemic areas. Young adults aged 20-29 are mostly affected, and epidemiological data indicate increased incidence rates from 2008 onwards. Our data pose a call for attention when traveling to DENV endemic areas as well as an increased awareness among physicians when treating returning travelers.

  18. Possibility to implement invasive species control in Swedish forests.

    PubMed

    Pettersson, Maria; Strömberg, Caroline; Keskitalo, E Carina H

    2016-02-01

    Invasive alien species constitute an increasing risk to forestry, as indeed to natural systems in general. This study reviews the legislative framework governing invasive species in the EU and Sweden, drawing upon both a legal analysis and interviews with main national level agencies responsible for implementing this framework. The study concludes that EU and Sweden are limited in how well they can act on invasive species, in particular because of the weak interpretation of the precautionary principle in the World Trade Organisation and Sanitary and Phytosanitary agreements. In the Swedish case, this interpretation also conflicts with the stronger interpretation of the precautionary principle under the Swedish Environmental Code, which could in itself provide for stronger possibilities to act on invasive species. PMID:26744055

  19. [Charlotte Yhlén--the first Swedish woman becoming a medical doctor. She had to move from Sweden to work as a physician].

    PubMed

    Bro, Tomas

    Charlotte Yhlén (1839-1919) was the first Swedish woman with medical education. New research has shed light on this forgotten pioneer. Charlotte was born in a Southern Sweden in a family without academical tradition. In her youth she got inspired by the woman emancipation movement. At an age of 28 she emigrated to the USA and studied at the Woman's Medical College of Pennsylvania. Her student thesis dealt with glaucoma. After graduation, Charlotte applied for work in Sweden but got rejected. Therefore, she moved back to the USA to work at Woman's Hospital of Philadelphia and later with a private practice as a general practitioner. In 1874, she married a Norwegian engineer and the couple got two children. Her husband's successful company Tinius Olsen Company was probably the reason why she gave up her medical career in her 50s. The article describes the conditions for love and work for the first Swedish women with academical education.

  20. Sleep disturbances among Swedish soldiers after military service abroad

    PubMed Central

    Pettersson, Karolina; Saers, Johannes; Lindberg, Eva; Janson, Christer

    2016-01-01

    Aims Since 1956, more than 100,000 Swedish soldiers have served abroad on various international missions. The aim of this paper was to determine whether there was a connection between military service abroad and sleep disorders among Swedish soldiers. Methods The prevalence of sleep disturbances among 1,080 veterans from Kosovo and Afghanistan was compared with almost 27,000 Swedes from a general population sample, using propensity score matching and logistic regression. The sleep disturbances studied were habitual snoring, difficulty inducing sleep (DIS), difficulty maintaining sleep (DMS), early morning awakenings (EMA), and excessive daytime sleepiness (EDS). Insomnia was defined as having at least one of DIS, DMS, or EMA. The covariates used in the matching and adjustments were age, gender, smoking habits, BMI, education, ever having had asthma, moist snuff, and exercise habits. Results The veterans had a significantly lower prevalence of insomnia (26.2% versus 30.4%) and EDS (22.7% versus 29.4%) compared with a matched group from the reference population, using propensity score matching. Analyses with logistic regression showed that belonging to the military population was related to a lower risk of having DMS (adjusted OR (95% CI) 0.77 (0.64–0.91)), insomnia (OR 0.82 (0.71–0.95)), and EDS (OR 0.74 (0.63–0.86)), whereas no significant difference was found for snoring, DIS, and EMA. Conclusion Swedish veterans have fewer problems with insomnia and daytime sleepiness than the general Swedish population. The explanation of our findings may be the selection processes involved in becoming a soldier and when sampling personnel for military assignments abroad. PMID:26959327

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

    ERIC Educational Resources Information Center

    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. The Quality of Teachers' Interactive Conversations with Preschool Children from Low-Income Families during Small-Group and Large-Group Activities

    ERIC Educational Resources Information Center

    Chen, Jennifer J.; de Groot Kim, Sonja

    2014-01-01

    This study examined the quality of preschool teachers' interactive conversations with three- and four-year-olds in two Head Start classrooms serving children from low-income families in the United States. Over a period of 20?weeks, 10 bi-weekly observations of conversations (totaling 15?h per classroom) were conducted in one small-group (Play…

  3. Harm perception among Swedish daily smokers regarding nicotine, NRT-products and Swedish Snus

    PubMed Central

    2010-01-01

    Background In Sweden NRT-products and Snus, are easily available and used as smoking cessation aids. However, most quit attempts are made without any cessation aids. The limited use of these products as cessation aids may be influenced by the way smokers perceive the harmfulness of NRT-products and Snus compared to smoking. The present study examines these perceptions and their association with perceptions of the harmfulness of nicotine itself. Methods The study is based on the Swedish part of a two-nation web-based survey of daily smokers in Sweden (n = 1016) and Norway (n = 1000). Questionnaire items addressed perceptions of NRT-products' and Snus' harmfulness and nicotine's part of the health risks of smoking. Data analyses included cross-tabulations and logistic regressions. Results A majority, 59% of the answers to the question about harmfulness of NRT-products, and 75% of the answers about harmfulness of Snus, were inconsistent with the scientific evidence by demonstrating exaggerated perceptions of harmfulness. The strongest predictor of consistent answers was the perception of the harmfulness of nicotine. There were also significant associations with own experience of successful use of the products in question. Overall the perceptions of the harmfulness of nicotine were considerably exaggerated. This pattern was more pronounced among women than men. Prevailing misperceptions may be related to the way that different tobacco and nicotine products are presented in the media and other publicly available information sources. Conclusions Public information about smoking and health should be expanded to include objective and unambiguous information regarding nicotine's part in the harmfulness of smoking and the harmfulness of different nicotine-containing products compared to smoking. This is essential in order to preclude that misperceptions regarding these matters could discourage smokers from adopting effective cessation practices with use of nicotine

  4. The Central Relationship Questionnaire (CRQ): Psychometric Properties in a Swedish Sample and Cross-Cultural Studies

    PubMed Central

    Weinryb, Robert M.; Barber, Jacques P.; Foltz, Carol; Göransson, Sara G. M.; Gustavsson, J. Petter

    2000-01-01

    The Core Conflictual Relationship Theme (CCRT) method is one of the most widely used and tested instruments developed within a psychoanalytic context for assessing central relationship patterns or characteristic patterns of relating to others. The Swedish version of the Central Relationship Questionnaire (CRQ), a recently developed self-report instrument based on the CCRT, was tested in a sample of Swedish psychology students (31 men, 60 women) and compared with responses of Swedish outpatients (15 men, 15 women) and North American students (49 men, 49 women). The subscales of the Swedish CRQ showed acceptable internal consistency and correlated with each other in a predictable fashion, displaying a pattern of intercorrelations similar to the English version. The CRQ showed meaningful patterns of correspondence with self-reported interpersonal problems as well as meaningful differences between the Swedish students and Swedish outpatients, indicating preliminary convergent and divergent validity. PMID:11069133

  5. Swedish hunters' safety behaviour and experience of firearm incidents.

    PubMed

    Junuzovic, Mensura; Midlöv, Patrik; Lönn, Sara Larsson; Eriksson, Anders

    2013-11-01

    Since any firearm injury is potentially lethal, it is of great interest to prevent firearm incidents. This study investigated such incidents during hunting and Swedish hunters' safety behaviour. A 48-item questionnaire was posted to a random sample of 1000 members of the Swedish Association for Hunting and Wildlife Management. The questions considered demographics, hunting experience/hunting habits/safety behaviour/attitudes and experience of careless weapon handling, hunters' weapons and safety behaviour relating to weapons, health status, firearm incidents and their preventability, and personal comments on the questionnaire. The response rate was almost 50%. The mean age of the responders was 54 years; 5% were females. Almost none (1%) reported hunting under the influence of alcohol. Young age and male sex were positively associated with risk behaviour, although the presence of multiple risk behaviours in the same responder was not common. A very high degree of compliance with Swedish laws regarding weapon storage was reported. One-quarter of the responders had witnessed a firearm incident caused by another hunter, which in most situations did not result in human injury or death. An unsafetied weapon was the most common reported "cause" of these incidents. Experience of a firearm incident was not uncommon and the majority of the responders considered the incident in question to be preventable. This study provides a picture of the possible risk behaviour among hunters and the results suggest that future prevention work should target safer weapon handling. PMID:24018010

  6. Solidarity in Swedish welfare--standing the test of time?

    PubMed

    Bergmark, A

    2000-01-01

    Swedish welfare has for decades served as a role model for universalistic welfare. When the economic recession hit Swedish economy in the beginning of the 1990s, a period of more than 50 years of continuous expansion and reforms in the welfare sector came to an end. Summing up the past decade, we can see that the economic downturn enforced rationing measures in most parts of the welfare state, although most of this took place in the beginning of the decade. Today, most of the retrenchment has stopped and in some areas we can see tendencies of restoration--but more so in financial benefits than in the caring sectors. In the article this process is discussed as a process of reallocation where general principles of solidarity become manifest. Various levels of decision making are discussed within the context of socio-political action. Current transitions in Swedish health care are described with respect to coverage rates, content, marketization and distribution. Basic principles of distribution are highlighted in order to analyse the meaning of social solidarity in a concrete allocative setting. The significance of popular opinion--it's shifts and determinants--is also considered. The article concludes with a discussion of how the (once salient) features of universalism in welfare and health care provision have been affected by the developments in the past decade in Sweden.

  7. Portrayals of lobotomy in American and Swedish media.

    PubMed

    Ogren, Kenneth

    2013-01-01

    Psychosurgery has a long history dating back to the 1880s when Gottlieb Burckhardt performed focal cerebral cortical excisions on the brains of six patients diagnosed with schizophrenia. His operations were vividly contested by the medical community of the time. In 1936, when Walter J. Freeman and James W. Watts performed their initial prefrontal lobotomies in the United States, they were met with some professional opposition from superintendents, who would not provide them with patients for the operation. However, Freeman and Watts managed to cope well with the opponents. In newspapers and magazines, the curiosity for lobotomy was obvious. Freeman was instrumental in the way he promoted lobotomy, and he evoked the interest of the press and the journalists for this new surgical treatment on mental illness, something that he regarded as a medico-historical breakthrough. In this chapter, the portrayal of lobotomy in American and Swedish newspapers and magazines is explored and analyzed. How did journalists write about lobotomy for the public in the years spanning 1936 to 1959, a period in which the American and Swedish presses appeared inclined to describe the positive effects of lobotomy, while neglecting the negative and fatal consequences of the operation. There are not only similarities but also interesting differences between the Swedish and the American articles depicting lobotomy. The media can be a powerful factor in the construction of "facts," which can significantly affect decisions made by people about their health issues.

  8. Swedish hunters' safety behaviour and experience of firearm incidents.

    PubMed

    Junuzovic, Mensura; Midlöv, Patrik; Lönn, Sara Larsson; Eriksson, Anders

    2013-11-01

    Since any firearm injury is potentially lethal, it is of great interest to prevent firearm incidents. This study investigated such incidents during hunting and Swedish hunters' safety behaviour. A 48-item questionnaire was posted to a random sample of 1000 members of the Swedish Association for Hunting and Wildlife Management. The questions considered demographics, hunting experience/hunting habits/safety behaviour/attitudes and experience of careless weapon handling, hunters' weapons and safety behaviour relating to weapons, health status, firearm incidents and their preventability, and personal comments on the questionnaire. The response rate was almost 50%. The mean age of the responders was 54 years; 5% were females. Almost none (1%) reported hunting under the influence of alcohol. Young age and male sex were positively associated with risk behaviour, although the presence of multiple risk behaviours in the same responder was not common. A very high degree of compliance with Swedish laws regarding weapon storage was reported. One-quarter of the responders had witnessed a firearm incident caused by another hunter, which in most situations did not result in human injury or death. An unsafetied weapon was the most common reported "cause" of these incidents. Experience of a firearm incident was not uncommon and the majority of the responders considered the incident in question to be preventable. This study provides a picture of the possible risk behaviour among hunters and the results suggest that future prevention work should target safer weapon handling.

  9. Intended validation in the Swedish program for spent nuclear fuel

    SciTech Connect

    Cronhjort, B.; Sheng, G.

    1996-12-01

    In September 1992, for the third time, the Swedish Nuclear Fuel and Waste Management Company (SKB) presented its triennial R&D program, as stipulated by the Swedish Act on Nuclear Activities with amendments, e.g. SFS 1995:875. The program, entitled Programme for Research, Development, Demonstration and Other Measures, was carefully reviewed by some forty various national organizations, and universities, as well as by national authorities. In December 1993, the Government decided amongst other things, to ask SKB to develop a validation strategy for models related to the safety assessment of the intended disposal system. Thus, SKB has supplemented its RD&D-Programme 92, and the program with supplement has been reviewed anew by the Swedish Nuclear Power Inspectorate (SKI), and by the National Council for Nuclear Waste (KASAM). SKB has commented upon the reviews. The final Government decision became available on May 18, 1995. In making no comments on SKB`s offered strategy, the Government would seem to reflect tacit approval. The purpose of this paper is to summarize the intended validation strategy. The deliberations related to SKB`s developing the strategy were presented by the authors in a companion paper. In conclusion, the authors relate SKB`s intended strategy to some recent independent research on validation of general system models.

  10. Managing Swedish forestry's impact on mercury in fish: Defining the impact and mitigation measures.

    PubMed

    Eklöf, Karin; Lidskog, Rolf; Bishop, Kevin

    2016-02-01

    Inputs of anthropogenic mercury (Hg) to the environment have led to accumulation of Hg in terrestrial and aquatic ecosystems, contributing to fish Hg concentrations well above the European Union standards in large parts of Fennoscandia. Forestry operations have been reported to increase the concentrations and loads of Hg to surface waters by mobilizing Hg from the soil. This summary of available forestry effect studies reveals considerable variation in treatment effects on total Hg (THg) and methylmercury (MeHg) at different sites, varying from no effect up to manifold concentration increases, especially for the bioavailable MeHg fraction. Since Hg biomagnification depends on trophic structures, forestry impacts on nutrient flows will also influence the Hg in fish. From this, we conclude that recommendations for best management practices in Swedish forestry operations are appropriate from the perspective of mercury contamination. However, the complexity of defining effective policies needs to be recognized. PMID:26744051

  11. Managing Swedish forestry's impact on mercury in fish: Defining the impact and mitigation measures.

    PubMed

    Eklöf, Karin; Lidskog, Rolf; Bishop, Kevin

    2016-02-01

    Inputs of anthropogenic mercury (Hg) to the environment have led to accumulation of Hg in terrestrial and aquatic ecosystems, contributing to fish Hg concentrations well above the European Union standards in large parts of Fennoscandia. Forestry operations have been reported to increase the concentrations and loads of Hg to surface waters by mobilizing Hg from the soil. This summary of available forestry effect studies reveals considerable variation in treatment effects on total Hg (THg) and methylmercury (MeHg) at different sites, varying from no effect up to manifold concentration increases, especially for the bioavailable MeHg fraction. Since Hg biomagnification depends on trophic structures, forestry impacts on nutrient flows will also influence the Hg in fish. From this, we conclude that recommendations for best management practices in Swedish forestry operations are appropriate from the perspective of mercury contamination. However, the complexity of defining effective policies needs to be recognized.

  12. Frequent users of pornography. A population based epidemiological study of Swedish male adolescents.

    PubMed

    Svedin, Carl Göran; Akerman, Ingrid; Priebe, Gisela

    2011-08-01

    Frequent use of pornography has not been sufficiently studied before. In a Swedish survey 2015 male students aged 18 years participated. A group of frequent users of pornography (N = 200, 10.5%) were studied with respect to background and psychosocial correlates. The frequent users had a more positive attitude to pornography, were more often "turned on" viewing pornography and viewed more often advanced forms of pornography. Frequent use was also associated with many problem behaviours. A multiple logistic regression analysis showed that frequent users of pornography were more likely to be living in a large city, consuming alcohol more often, having greater sexual desire and had more often sold sex than other boys of the same age. High frequent viewing of pornography may be seen as a problematic behaviour that needs more attention from both parents and teachers and also to be addressed in clinical interviews.

  13. The role of emigration and migration in Swedish industrialization.

    PubMed

    Karlstrom, U

    1982-10-01

    It is possible, within a general equilibrium framework, to reveal some of the important mechansims in the rather complicated interplay among the variables causing demoeconomic development. The model for this study is a computable general equilibrium model within the tradition of multisectoral growth models and is designed to fit Swedish prewar development and to enable counterfactual analysis. The model is reviewed briefly followed by comments on the database, estimation procedure and validation; displays of some comparative static experiments; and an evaluation of the capability of the model in replicating Swedish demoeconomic development between 1871-90 before examining the counterfactual simulations which address the role of external and internal migration in Swedish industrialization. There are at least 2 reasons for carrying out comparative static experiments: by undertaking parameter changes and exploring the equilibrium effect on the model, further insights will be realized concerning the behavior of the model and its validity; and some of the comparative static experiments are interesting from the point of view of policy analysis because they reveal the static, total effect on the economy of changes in some variables discussed by 19th century Swedish politicians. The experiments are organized into 2 groups: rural and population experiments. The base run simulation from 1871-90 indicates that the model captures the essential factors of the demoeconomic development of Sweden. The model's ability to replicate historical trends in some of the crucial variables permits use of the base simulation as a reference point when undertaking counterfactual simulations. The 1st simulation evaluates the effects of emigration on the Swedish economy; the remaining 2 simulations assess the importance of rural to urban migration. The model indicates that without emigration real rural wages would have been 1.8% lower in 1880 and 10.0% lower in 1890. Urban wages would have been

  14. The role of emigration and migration in Swedish industrialization.

    PubMed

    Karlstrom, U

    1982-10-01

    It is possible, within a general equilibrium framework, to reveal some of the important mechansims in the rather complicated interplay among the variables causing demoeconomic development. The model for this study is a computable general equilibrium model within the tradition of multisectoral growth models and is designed to fit Swedish prewar development and to enable counterfactual analysis. The model is reviewed briefly followed by comments on the database, estimation procedure and validation; displays of some comparative static experiments; and an evaluation of the capability of the model in replicating Swedish demoeconomic development between 1871-90 before examining the counterfactual simulations which address the role of external and internal migration in Swedish industrialization. There are at least 2 reasons for carrying out comparative static experiments: by undertaking parameter changes and exploring the equilibrium effect on the model, further insights will be realized concerning the behavior of the model and its validity; and some of the comparative static experiments are interesting from the point of view of policy analysis because they reveal the static, total effect on the economy of changes in some variables discussed by 19th century Swedish politicians. The experiments are organized into 2 groups: rural and population experiments. The base run simulation from 1871-90 indicates that the model captures the essential factors of the demoeconomic development of Sweden. The model's ability to replicate historical trends in some of the crucial variables permits use of the base simulation as a reference point when undertaking counterfactual simulations. The 1st simulation evaluates the effects of emigration on the Swedish economy; the remaining 2 simulations assess the importance of rural to urban migration. The model indicates that without emigration real rural wages would have been 1.8% lower in 1880 and 10.0% lower in 1890. Urban wages would have been

  15. Sexual child abuse in a defined Swedish area 1993-97: a population-based survey.

    PubMed

    Carlstedt, A; Forsman, A; Soderstrom, H

    2001-10-01

    Attempting to avoid some of the most common methodological problems involved in research on sexual child abuse, we collected data on crimes, perpetrators, and sanctions in all convicted cases of sexual child abuse in a defined population during a 5-year period. This approach provided amply documented and ascertained cases with precise definitions and descriptions of the crimes involved, no clinical referral bias, and minimal dependence on memory effects. The results are valid for the small proportion of cases that lead to conviction in the context of Swedish legislation. Structured data were collected from the court dossiers in all cases of sexual crimes against minors (less than 15 years of age) tried and sentenced at the courts in the Västra Götaland region of Sweden between 1993 and 1997. The total number of 496 sentences for sexual crimes during the study period included 203 cases of sexual child abuse (40.8%) with 283 victims and 196 perpetrators, all men. Girls were victims in 85% of the cases, boys in 12%, and boys as well as girls in 3%. Sexual penetration had occurred in 54.5% of cases and the total proportion of hands-on crimes was 83%. Most perpetrators, 72%, were well known to the child. The most severe offenses took place within the family. A wide range of acts were classified as sexual child abuse, but most common was sexual penetration of a female child by her biological father or a family friend. PMID:11501297

  16. Risk factors for displaced abomasum or ketosis in Swedish dairy herds.

    PubMed

    Stengärde, L; Hultgren, J; Tråvén, M; Holtenius, K; Emanuelson, U

    2012-03-01

    Risk factors associated with high or low long-term incidence of displaced abomasum (DA) or clinical ketosis were studied in 60 Swedish dairy herds, using multivariable logistic regression modelling. Forty high-incidence herds were included as cases and 20 low-incidence herds as controls. Incidence rates were calculated based on veterinary records of clinical diagnoses. During the 3-year period preceding the herd classification, herds with a high incidence had a disease incidence of DA or clinical ketosis above the 3rd quartile in a national database for disease recordings. Control herds had no cows with DA or clinical ketosis. All herds were visited during the housing period and herdsmen were interviewed about management routines, housing, feeding, milk yield, and herd health. Target groups were heifers in late gestation, dry cows, and cows in early lactation. Univariable logistic regression was used to screen for factors associated with being a high-incidence herd. A multivariable logistic regression model was built using stepwise regression. A higher maximum daily milk yield in multiparous cows and a large herd size (p=0.054 and p=0.066, respectively) tended to be associated with being a high-incidence herd. Not cleaning the heifer feeding platform daily increased the odds of having a high-incidence herd twelvefold (p<0.01). Keeping cows in only one group in the dry period increased the odds of having a high incidence herd eightfold (p=0.03). Herd size was confounded with housing system. Housing system was therefore added to the final logistic regression model. In conclusion, a large herd size, a high maximum daily milk yield, keeping dry cows in one group, and not cleaning the feeding platform daily appear to be important risk factors for a high incidence of DA or clinical ketosis in Swedish dairy herds. These results confirm the importance of housing, management and feeding in the prevention of metabolic disorders in dairy cows around parturition and in early

  17. Coffee Consumption and Risk of Fracture in the Cohort of Swedish Men (COSM)

    PubMed Central

    Hallström, Helena; Wolk, Alicja; Glynn, Anders; Michaëlsson, Karl; Byberg, Liisa

    2014-01-01

    Background Recent research in a large cohort of women showed that coffee consumption is not associated with increased risk of fracture. Whether this is the case also among men is less clear. Methods In the Cohort of Swedish Men (COSM) study, 42,978 men aged 45–79 years old at baseline in 1997 answered a self-administered food frequency questionnaire covering coffee consumption and a medical and lifestyle questionnaire covering potential confounders. Our main outcomes first fracture at any site and first hip fracture were collected from the National Patient Registry in Sweden. The association between coffee consumption and fracture risk was investigated using Cox’s proportional hazards regression. Results During a mean follow-up of 11.2 years, 5,066 men had a first fracture at any site and of these, 1,186 (23%) were hip fractures. There was no association between increasing coffee consumption (per 200 ml) and rate of any fracture (hazard ratio [HR] 1.00; 95% confidence interval [CI] 0.99–1.02) or hip fracture (HR 1.02; 95% CI 0.99–1.06) after adjustment for potential confounders. For men consuming ≥4 cups of coffee/day compared to those consuming <1 cup of coffee/day, HR for any type of fracture was 0.91 (95% CI 0.80–1.02) and for hip fracture: 0.89 (95% CI 0.70–1.14). Conclusions High coffee consumption was not associated with an increased risk of fractures in this large cohort of Swedish men. PMID:24830750

  18. Reproductive history and post-reproductive mortality: A sibling comparison analysis using Swedish register data.

    PubMed

    Barclay, Kieron; Keenan, Katherine; Grundy, Emily; Kolk, Martin; Myrskylä, Mikko

    2016-04-01

    A growing body of evidence suggests that reproductive history influences post-reproductive mortality. A potential explanation for this association is confounding by socioeconomic status in the family of origin, as socioeconomic status is related to both fertility behaviours and to long-term health. We examine the relationship between age at first birth, completed parity, and post-reproductive mortality and address the potential confounding role of family of origin. We use Swedish population register data for men and women born 1932-1960, and examine both all-cause and cause-specific mortality. The contributions of our study are the use of a sibling comparison design that minimizes residual confounding from shared family background characteristics and assessment of cause-specific mortality that can shed light on the mechanisms linking reproductive history to mortality. Our results were entirely consistent with previous research on this topic, with teenage first time parents having higher mortality, and the relationship between parity and mortality following a U-shaped pattern where childless men and women and those with five or more children had the highest mortality. These results indicate that selection into specific fertility behaviours based upon socioeconomic status and experiences within the family of origin does not explain the relationship between reproductive history and post-reproductive mortality. Additional analyses where we adjust for other lifecourse factors such as educational attainment, attained socioeconomic status, and post-reproductive marital history do not change the results. Our results add an important new level of robustness to the findings on reproductive history and mortality by showing that the association is robust to confounding by factors shared by siblings. However it is still uncertain whether reproductive history causally influences health, or whether other confounding factors such as childhood health or risk-taking propensity could

  19. Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

    PubMed Central

    Brusnický, J; van Heerden, K M; de Jong, G; Cronjé, A S; Retief, A E

    1986-01-01

    Partial monosomy 10q25.2----qter, detected in a newborn baby with multiple congenital abnormalities, was found to be derived from a balanced maternal translocation t(6;10)(q27;q25.2). The pedigree of six generations of the family is presented. In an extensive cytogenetic study of this family, the chromosome complements of 57 subjects, potentially capable of carrying some form of this translocation, were analysed. A total of 14 male carriers (four obligatory) and 14 female carriers (three obligatory) of this translocation was found. Partial trisomy 10q25.2----qter, associated with severe mental retardation, occurred in nine cases, eight males and one female. Two of these eight males were detected prenatally and subsequently therapeutically aborted. The phenotypes of the family members with partial trisomy 10q25.2----qter are compared to each other and to those reported in publications. No further cases of partial monosomy 10q25.2----qter were encountered. A review of published reports of partial monosomy and partial trisomy 10qter is given. The apparent absence of infertility, the occurrence of many first trimester miscarriages, and the marked sex ratio are discussed. Images PMID:3783620

  20. FAMILY BOMBYLIIDAE.

    PubMed

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-01-01

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world. PMID:27395279

  1. Screening of Two ADH4 Variations in a Swedish Cluster Headache Case–Control Material

    PubMed Central

    Fourier, Carmen; Ran, Caroline; Steinberg, Anna; Sjöstrand, Christina; Waldenlind, Elisabet

    2016-01-01

    Background Cluster headache (CH) is a severe neurovascular disorder and an increasing amount of evidence points to a genetic contribution to this disease. When CH was first described, it was observed that alcohol may precipitate an attack during the active phase of the disease. The alcohol dehydrogenase 4 (ADH4) gene encodes an enzyme which contributes to the metabolization of alcohol and is, therefore, an interesting candidate gene for CH. Two Italian groups have reported association of the single nucleotide polymorphism (SNP) rs1126671 located in the ADH4 gene with an increased risk of CH in Italy. In addition, one of the groups found an association between the ADH4 SNP rs1800759 and CH. Objective To perform a replication study on the ADH4 SNPs rs1126671 and rs1800759 in a large homogeneous Swedish case–control cohort in order to further investigate the possible contribution of ADH4 to CH. Methods A total of 390 unrelated patients diagnosed with CH and 389 controls representing a general Swedish population were recruited to the study. DNA samples from patients and controls were genotyped for the two ADH4 SNPs rs1126671 and rs1800759 using quantitative real‐time polymerase chain reaction. Statistical analyses of genotype, allele and haplotype frequencies for the two SNPs were performed and compared between patients and controls. Results For rs1126671, the minor allele frequency (A allele) was 32.8% (n = 254) in controls compared with 31.9% (n = 249) in CH patients. The minor allele frequency (A allele) of rs1800759 was 42.3% (n = 324) in controls and 41.9% (n = 327) in CH patients. Statistical analysis showed no significant differences in allele as well as in genotype or haplotype frequencies between the patient and control group for either SNP. This was also seen after stratifying the patient group for experiencing alcohol as a trigger factor. Conclusions The data did not support an association of the ADH4 SNPs rs1126671 and rs1800759 with CH

  2. Cumulative health risk assessment of 17 perfluoroalkylated and polyfluoroalkylated substances (PFASs) in the Swedish population.

    PubMed

    Borg, Daniel; Lund, Bert-Ove; Lindquist, Nils-Gunnar; Håkansson, Helen

    2013-09-01

    Humans are simultaneously exposed to a multitude of chemicals. Human health risk assessment of chemicals is, however, normally performed on single substances, which may underestimate the total risk, thus bringing a need for reliable methods to assess the risk of combined exposure to multiple chemicals. Per- and polyfluoroalkylated substances (PFASs) is a large group of chemicals that has emerged as global environmental contaminants. In the Swedish population, 17 PFASs have been measured, of which the vast majority lacks human health risk assessment information. The objective of this study was to for the first time perform a cumulative health risk assessment of the 17 PFASs measured in the Swedish population, individually and in combination, using the Hazard Index (HI) approach. Swedish biomonitoring data (blood/serum concentrations of PFASs) were used and two study populations identified: 1) the general population exposed indirectly via the environment and 2) occupationally exposed professional ski waxers. Hazard data used were publicly available toxicity data for hepatotoxicity and reproductive toxicity as well as other more sensitive toxic effects. The results showed that PFASs concentrations were in the low ng/ml serum range in the general population, reaching high ng/ml and low μg/ml serum concentrations in the occupationally exposed. For those congeners lacking toxicity data with regard to hepatotoxicity and reproductive toxicity read-across extrapolations was performed. Other effects at lower dose levels were observed for some well-studied congeners. The risk characterization showed no concern for hepatotoxicity or reproductive toxicity in the general population except in a subpopulation eating PFOS-contaminated fish, illustrating that high local exposure may be of concern. For the occupationally exposed there was concern for hepatotoxicity by PFOA and all congeners in combination as well as for reproductive toxicity by all congeners in combination, thus a

  3. High use of complementary and alternative medicine among a large cohort of women with a family history of breast cancer: the Sister Study.

    PubMed

    Greenlee, Heather; Sardo Molmenti, Christine L; Falci, Laura; Ulmer, Ross; Deming-Halverson, Sandra; DeRoo, Lisa A; Sandler, Dale P

    2016-04-01

    Use of complementary and alternative medicine (CAM) is high among U.S. women, yet information is limited on use among women at increased breast cancer risk. We analyzed CAM use among women with a family history of breast cancer. CAM use was analyzed among women enrolled 2003-2009 in the Sister Study cohort. Eligible women were aged 35-74, U.S. or Puerto Rican residents, no personal history of breast cancer, and had ≥1 sister with breast cancer. Baseline data on CAM use in the past year were available for 49,734 women. Logistic regression models examined the association between CAM use and Gail Model breast cancer risk score. Results were compared to female participants in the 2007 National Health Interview Survey (n = 7965). Among Sister Study participants, there was high use of vitamin/mineral supplements (79 %), mind-body practices (41 %), manipulative/body-based practices (32 %), and botanicals (23 %). Overall use was higher than the U.S. female population. No association was observed between familial breast cancer risk and CAM use. Black women were more likely to use spirituality/meditation-based CAM modalities, while non-Hispanic white and Asian women were high users of dietary supplements. In a cohort of women with increased breast cancer risk due to family history, CAM use is higher than women in the general U.S. population and is associated with race/ethnicity. Use was not associated with breast cancer risk. Given the high prevalence of CAM use among women at risk for breast caner, research on the effectiveness of CAM use for disease prevention is needed.

  4. Does Sex Moderate the Clinical Correlates of Pediatric Bipolar-I Disorder? Results from a Large Controlled Family-Genetic Study

    PubMed Central

    Wozniak, Janet; Biederman, Joseph; Martelon, MaryKate; Hernandez, Mariely; Woodworth, K. Yvonne; Faraone, Stephen V.

    2013-01-01

    Background Since little is known as to whether sex differences affect the clinical presentation of pediatric BP-I disorder, it is an area of high clinical, scientific and public health relevance. Methods Subjects are 239 BP-I probands (65 female probands, 174 male probands) and their 726 first-degree relatives, and 136 non-bipolar, non-ADHD control probands (37 female probands, 99 male probands) and their 411 first-degree relatives matched for age and sex. We modeled the psychiatric and cognitive outcomes as a function of BP-I status, sex, and the BP-I status-gender interaction. Results BP-I disorder was equally familial in both sexes. With the exception of duration of mania (shorter in females) and number of depressive episodes (more in females), there were no other meaningful differences between the sexes in clinical correlates of BP-I disorder. With the exception of a significant sex effect for panic disorder and a trend for substance use disorders (p=0.05) with female probands being at a higher risk than male probands, patterns of comorbidity were similar between the sexes. Despite the similarities, boys with BP-I disorder received more intensive and costly academic services than girls with the same disorder. Limitations Since we studied children referred to a family study of bipolar disorder, our findings may not generalize to clinic settings. Conclusions We found more similarities than differences between the sexes in the personal and familial correlates of BP-I disorder. Clinicians should consider bipolar disorder in the differential diagnosis of both boys and girls afflicted with symptoms suggestive of this disorder. PMID:23485112

  5. High use of complementary and alternative medicine among a large cohort of women with a family history of breast cancer: the Sister Study.

    PubMed

    Greenlee, Heather; Sardo Molmenti, Christine L; Falci, Laura; Ulmer, Ross; Deming-Halverson, Sandra; DeRoo, Lisa A; Sandler, Dale P

    2016-04-01

    Use of complementary and alternative medicine (CAM) is high among U.S. women, yet information is limited on use among women at increased breast cancer risk. We analyzed CAM use among women with a family history of breast cancer. CAM use was analyzed among women enrolled 2003-2009 in the Sister Study cohort. Eligible women were aged 35-74, U.S. or Puerto Rican residents, no personal history of breast cancer, and had ≥1 sister with breast cancer. Baseline data on CAM use in the past year were available for 49,734 women. Logistic regression models examined the association between CAM use and Gail Model breast cancer risk score. Results were compared to female participants in the 2007 National Health Interview Survey (n = 7965). Among Sister Study participants, there was high use of vitamin/mineral supplements (79 %), mind-body practices (41 %), manipulative/body-based practices (32 %), and botanicals (23 %). Overall use was higher than the U.S. female population. No association was observed between familial breast cancer risk and CAM use. Black women were more likely to use spirituality/meditation-based CAM modalities, while non-Hispanic white and Asian women were high users of dietary supplements. In a cohort of women with increased breast cancer risk due to family history, CAM use is higher than women in the general U.S. population and is associated with race/ethnicity. Use was not associated with breast cancer risk. Given the high prevalence of CAM use among women at risk for breast caner, research on the effectiveness of CAM use for disease prevention is needed. PMID:27017506

  6. Incidence and familial risk of pleural mesothelioma in Sweden: a national cohort study.

    PubMed

    Ji, Jianguang; Sundquist, Jan; Sundquist, Kristina

    2016-09-01

    Familial clustering of pleural mesothelioma was reported previously, but none of the reports quantified the familial risk of mesothelioma or the association with other cancers. The contributions of shared environmental or genetic factors to the aggregation of mesothelioma were unknown.We used a number of Swedish registers, including the Swedish Multigeneration Register and the Swedish Cancer Register, to examine the familial risk of mesothelioma in offspring. Standardised incidence ratios (SIRs) were used to calculate the risk. Age standardised incidence rates of mesothelioma were calculated from the Swedish Cancer Registry.The incidence of mesothelioma reached its peak rate in 2000 and decreased thereafter. Risk of mesothelioma was significantly increased when parents or siblings were diagnosed with mesothelioma, with SIRs of 3.88 (95% CI 1.01-10.04) and 12.37 (95% CI 5.89-22.84), respectively. Mesothelioma was associated with kidney (SIR 2.13, 95% CI 1.16-3.59) and bladder cancers (SIR 2.09, 95% CI 1.32-3.14) in siblings. No association was found between spouses.Family history of mesothelioma, including both parental and sibling history, is an important risk factor for mesothelioma. Shared genetic factors may contribute to the observed familial clustering of mesothelioma, but the contribution of shared environmental factors could not be neglected. The association with kidney and bladder cancers calls for further study to explore the underlying mechanisms. PMID:27174879

  7. A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family.

    PubMed

    Sexton, A; Rawlings, L; McKavanagh, G; Simons, K; Winship, I

    2015-12-01

    We present a case where a variant of uncertain significance in the von Hippel Lindau syndrome gene (VHL) was identified in a proband with haemangioblastoma, and in a second degree relative with phaeochromocytoma. Initial uncertainty due to the unclear nature of the variant created psychosocial challenges for this family, in which four other genetic conditions were also present. Subsequent RNA studies confirmed this as a novel pathogenic mutation affecting splicing of exon 2. A third relative has since been diagnosed with haemangioblastoma. We suggest that this mutation possibly has reduced penetrance as there was no history of haemangioblastoma, renal tumours (apart from small cysts) or other VHL tumours among five mutation positive and seven untested adult relatives at 50 % risk of the VHL mutation (average age 46 years, range 18-70 years). This case presents a novel VHL splicing mutation and highlights the psychosocial and medical value of additional laboratory studies on uncertain variants for individuals, their families and for the health professionals providing advice and counseling. PMID:26323595

  8. Familial myeloproliferative disease.

    PubMed

    Gilbert, H S

    1998-12-01

    The occurrence of one or more myeloproliferative disease (MPD) syndromes in 42 families is described. MPD appeared in a single generation in 10 families, two generations in 30 families and three generations in two families. In contrast to sparse case reports of familial polycythaemia vera, familial essential thrombocythaemia, or familial agnogenic myeloid metaplasia, in which all the involved members presented with the same MPD, 21 of the 42 families in the present series had members who presented with different MPD variants. The occurrence of multiple disease phenotypes in 'MPD families' is entirely consistent with the accepted theory of MPD as a disease arising from clonal expansion of a pluripotential haematopoietic precursor cell (PHPC) that retains its pluripotentiality and produces an array of inter-related syndromes, each named for the predominant haematic cell type involved in the proliferation. Changes in disease phenotype during the course of MPD and 'hybrid' phenotypes at the time of diagnosis are common. This report challenges the previously accepted belief that PV and other MPD variants are sporadic and randomly-occurring, and that familial occurrence of MPD is rare. The ability to identify 'MPD families' by surveying a large population of patients with MPD through the Internet, as was done in this study, and heightened awareness of familial occurrence and its phenotypic heterogeneity, should facilitate further characterization of the mode of inheritance in familial MPD and the nature of the gene mutations responsible for the dysregulation of haematopoiesis.

  9. Victimization, polyvictimization, and health in Swedish adolescents

    PubMed Central

    Aho, Nikolas; Proczkowska-Björklund, Marie; Svedin, Carl Göran

    2016-01-01

    The main objective of this article was to study the relationship between the different areas of victimization (eg, sexual victimization) and psychological symptoms, taking into account the full range of victimization domains. The final aim was to contribute further evidence regarding the bias that studies that focus on just one area of victimization may be introduced into our psychological knowledge. The sample included 5,960 second-year high school students in Sweden with a mean age of 17.3 years (range =16–20 years, standard deviation =0.652), of which 49.6% were females and 50.4% males. The Juvenile Victimization Questionnaire and the Trauma Symptom Checklist for Children were used to assess victimization and psychological problems separately. The results show that a majority of adolescents have been victimized, females reported more total events and more sexual victimization and childhood maltreatment, and males were more often victims of conventional crime. The majority of victimization domains as well as the sheer number of events (polyvictimization [PV]) proved to be harmful to adolescent health, affecting females more than males. PV explained part of the health effect and had an impact on its own and in relation to each domain. This suggests the possibility that PV to a large degree explains trauma symptoms. In order to understand the psychological effects of trauma, clinicians and researchers should take into account the whole range of possible types of victimization. PMID:27616895

  10. Victimization, polyvictimization, and health in Swedish adolescents.

    PubMed

    Aho, Nikolas; Proczkowska-Björklund, Marie; Svedin, Carl Göran

    2016-01-01

    The main objective of this article was to study the relationship between the different areas of victimization (eg, sexual victimization) and psychological symptoms, taking into account the full range of victimization domains. The final aim was to contribute further evidence regarding the bias that studies that focus on just one area of victimization may be introduced into our psychological knowledge. The sample included 5,960 second-year high school students in Sweden with a mean age of 17.3 years (range =16-20 years, standard deviation =0.652), of which 49.6% were females and 50.4% males. The Juvenile Victimization Questionnaire and the Trauma Symptom Checklist for Children were used to assess victimization and psychological problems separately. The results show that a majority of adolescents have been victimized, females reported more total events and more sexual victimization and childhood maltreatment, and males were more often victims of conventional crime. The majority of victimization domains as well as the sheer number of events (polyvictimization [PV]) proved to be harmful to adolescent health, affecting females more than males. PV explained part of the health effect and had an impact on its own and in relation to each domain. This suggests the possibility that PV to a large degree explains trauma symptoms. In order to understand the psychological effects of trauma, clinicians and researchers should take into account the whole range of possible types of victimization. PMID:27616895

  11. Victimization, polyvictimization, and health in Swedish adolescents

    PubMed Central

    Aho, Nikolas; Proczkowska-Björklund, Marie; Svedin, Carl Göran

    2016-01-01

    The main objective of this article was to study the relationship between the different areas of victimization (eg, sexual victimization) and psychological symptoms, taking into account the full range of victimization domains. The final aim was to contribute further evidence regarding the bias that studies that focus on just one area of victimization may be introduced into our psychological knowledge. The sample included 5,960 second-year high school students in Sweden with a mean age of 17.3 years (range =16–20 years, standard deviation =0.652), of which 49.6% were females and 50.4% males. The Juvenile Victimization Questionnaire and the Trauma Symptom Checklist for Children were used to assess victimization and psychological problems separately. The results show that a majority of adolescents have been victimized, females reported more total events and more sexual victimization and childhood maltreatment, and males were more often victims of conventional crime. The majority of victimization domains as well as the sheer number of events (polyvictimization [PV]) proved to be harmful to adolescent health, affecting females more than males. PV explained part of the health effect and had an impact on its own and in relation to each domain. This suggests the possibility that PV to a large degree explains trauma symptoms. In order to understand the psychological effects of trauma, clinicians and researchers should take into account the whole range of possible types of victimization.

  12. IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

    PubMed Central

    Einarsdottir, Elisabet; Koskinen, Lotta LE; Dukes, Emma; Kainu, Kati; Suomela, Sari; Lappalainen, Maarit; Ziberna, Fabiana; Korponay-Szabo, Ilma R; Kurppa, Kalle; Kaukinen, Katri; Ádány, Róza; Pocsai, Zsuzsa; Széles, György; Färkkilä, Martti; Turunen, Ulla; Halme, Leena; Paavola-Sakki, Paulina; Not, Tarcisio; Vatta, Serena; Ventura, Alessandro; Löfberg, Robert; Torkvist, Leif; Bresso, Francesca; Halfvarson, Jonas; Mäki, Markku; Kontula, Kimmo; Saarialho-Kere, Ulpu; Kere, Juha; D'Amato, Mauro; Saavalainen, Päivi

    2009-01-01

    Background Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases. Methods We studied association of single-nucleotide variants in IL23R with IBD in Swedish patients, in both Crohn's disease (CD) and ulcerative colitis (UC) subsets. The same genetic variants were also studied in Finnish patients with psoriasis or celiac disease, and in Hungarian and Italian patients with celiac disease. Results Association of IL23R with IBD was replicated in our Swedish patients, and linkage and association of the IL23R region with psoriasis was found in the Finnish population. The IL23R region was also linked to celiac disease in Finnish families, but no association of IL23R variants with celiac disease was found in the Finnish, Hungarian or Italian samples. Conclusion Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. It is also the first study to report linkage and association of the IL23R region with psoriasis in the Finnish population. Importantly, this is the first report of linkage of the IL23R region to celiac disease, a chronic inflammatory condition in which IL23R has not been previously implicated. PMID:19175939

  13. The Swedish Program has Entered the Site Selection Phase

    SciTech Connect

    Nygards, P.; Hedman, T.; Eng, T.; Olsson, O.

    2003-02-25

    Facilities for intermediate storage of spent fuel and HLW and for final disposal of ILW and LLW together with a system for sea transportation have been in operation in Sweden for more then 15 years. To complete the ''back end system'' the remaining parts are to build facilities for encapsulation and final storage of spent fuel and HLW. The Swedish reference method for final disposal of spent fuel, KBS-3, is to encapsulate the fuel elements in copper canisters and dispose them in a deep geological repository. The Swedish program up to 2001 was focused on the establishment of general acceptance of the reference method for final storage and SKB's selection of candidate sites for a deep geological repository. In the end of year 2000 SKB presented a report as a base for a Government decision about the siting process. This report gave the background for the selection of three candidate sites. It also presented the program for geological surveys of the candidate sites as well as the background for the choice of the method for final disposal of spent nuclear fuel and HLW. In the end of 2001 the Swedish government endorsed the plan for the site selection phase and stated that the KBS-3 design of the repository shall be used as the planning base for the work. Permissions were also granted for the fieldwork from the municipalities of Forsmark and Oskarshamn where the candidate sites are located. Site investigations on these two sites started during 2002. The technical development and demonstration of the KBS 3-method is ongoing at the Dspv Hard Rock Laboratory and the Canister Laboratory. The goal for the coming five years period is to select the site for the repository and apply for licenses to construct and operate the facilities for encapsulation and final storage of spent fuel. The encapsulation plant and the repository are planned to be in operation around year 2015.

  14. Towards a model for integrative medicine in Swedish primary care

    PubMed Central

    Sundberg, Tobias; Halpin, Jeremy; Warenmark, Anders; Falkenberg, Torkel

    2007-01-01

    Background Collaboration between providers of conventional care and complementary therapies (CTs) has gained in popularity but there is a lack of conceptualised models for delivering such care, i.e. integrative medicine (IM). The aim of this paper is to describe some key findings relevant to the development and implementation of a proposed model for IM adapted to Swedish primary care. Methods Investigative procedures involved research group and key informant meetings with multiple stakeholders including general practitioners, CT providers, medical specialists, primary care administrators and county council representatives. Data collection included meeting notes which were fed back within the research group and used as ongoing working documents. Data analysis was made by immersion/crystallisation and research group consensus. Results were categorised within a public health systems framework of structures, processes and outcomes. Results The outcome was an IM model that aimed for a patient-centered, interdisciplinary, non-hierarchical mix of conventional and complementary medical solutions to individual case management of patients with pain in the lower back and/or neck. The IM model case management adhered to standard clinical practice including active partnership between a gate-keeping general practitioner, collaborating with a team of CT providers in a consensus case conference model of care. CTs with an emerging evidence base included Swedish massage therapy, manual therapy/naprapathy, shiatsu, acupuncture and qigong. Conclusion Despite identified barriers such as no formal recognition of CT professions in Sweden, it was possible to develop a model for IM adapted to Swedish primary care. The IM model calls for testing and refinement in a pragmatic randomised controlled trial to explore its clinical effectiveness. PMID:17623105

  15. First report from the Swedish National Forensic Psychiatric Register (SNFPR).

    PubMed

    Degl' Innocenti, Alessio; Hassing, Linda B; Lindqvist, Ann-Sophie; Andersson, Hans; Eriksson, Lars; Hanson, Frances Hagelbäck; Möller, Nina; Nilsson, Thomas; Hofvander, Björn; Anckarsäter, Henrik

    2014-01-01

    To the best of our knowledge, the present register is the only nationwide forensic psychiatric patient register in the world. The aim of this article is to describe the content of the Swedish National Forensic Psychiatric Register (SNFPR) for Swedish forensic patients for the year 2010. The subjects are individuals who, in connection with prosecution due to criminal acts, have been sentenced to compulsory forensic psychiatric treatment in Sweden. The results show that in 2010, 1476 Swedish forensic patients were assessed in the SNFPR; 1251 (85%) were males and 225 (15%) were females. Almost 60% of the patients had a diagnosis of schizophrenia, with a significantly higher frequency among males than females. As many as 70% of the patients had a previous history of outpatient psychiatric treatment before becoming a forensic psychiatric patient, with a mean age at first contact with psychiatric care of about 20 years old for both sexes. More than 63% of the patients had a history of addiction, with a higher proportion of males than females. Furthermore, as many as 38% of all patients committed crimes while under the influence of alcohol and/or illicit drugs. This was more often the case for men than for women. Both male and female patients were primarily sentenced for crimes related to life and death (e.g., murder, assault). However, there were more females than males in treatment for general dangerous crimes (e.g., arson), whereas men were more often prosecuted for crimes related to sex. In 2010, as many as 70% of all forensic patients in Sweden had a prior sentence for a criminal act, and males were prosecuted significantly more often than females. The most commonly prescribed pharmaceuticals for both genders were antipsychotics, although more women than men were prescribed other pharmaceuticals, such as antidepressants, antiepileptics, and anxiolytics. The result from the present study might give clinicians an opportunity to reflect upon and challenge their

  16. Between Control and Resistance: Planning and Evaluation Texts in the Swedish Preschool

    ERIC Educational Resources Information Center

    Lofdahl, Annica; Perez Prieto, Hector

    2009-01-01

    This article contains results from a study based on locally produced planning and evaluation texts from 10 preschool settings in a Swedish middle-sized town. The texts were mainly from 1999 to 2005, a period during which Swedish preschools were implementing their first curriculum and were subject to several changes including decentralisation,…

  17. From Formulation to Realisation: The Process of Swedish Reform in Advanced Vocational Education

    ERIC Educational Resources Information Center

    Lindell, Mats

    2006-01-01

    Purpose: This study aims to consider the complexities of planning and implementation of a reform in the Swedish system of higher vocational education and training (VET). The study object of this article is the Swedish reform with advanced vocational education (AVE). The two main questions the study aims to address are: "What are the main driving…

  18. Further Education and Training in Swedish Working Life: A Discussion of Trends and Issues.

    ERIC Educational Resources Information Center

    Tuijnman, Albert

    Written mainly for a non-Swedish audience, this document has a twofold purpose: (1) to examine how and to what extent the further education and training of the labor force is both presently and prospectively dealt with in collective bargaining agreements and other workplace negotiation processes in the Swedish labor market; and (2) to examine the…

  19. The Psychometric Properties of the Swedish Version of the EB Process Assessment Scale

    ERIC Educational Resources Information Center

    Nyström, Siv; Åhsberg, Elizabeth

    2016-01-01

    Objective: This study examines whether the psychometric properties of the short version of the Evidence-Based Practice Process Assessment Scale (EBPPAS) remain satisfactory when translated and transferred to the context of Swedish welfare services. Method: The Swedish version of EBPPAS was tested on a sample of community-based professionals in…

  20. How Are Notions of Childcare Similar or Different among American, Chinese, Japanese and Swedish Teachers?

    ERIC Educational Resources Information Center

    Izumi-Taylor, Satomi; Lee, Yu-Yuan; Franceschini, Louis

    2011-01-01

    The purpose of this study was to examine similarities and differences in the perceptions of childcare among American, Chinese, Japanese and Swedish early childhood teachers. Participants consisted of 78 American teachers, 156 Chinese teachers, 158 Japanese teachers, and 157 Swedish teachers. The results of quantitative analysis revealed that these…

  1. The Rock Band Context as Discursive Governance in Music Education in Swedish Schools

    ERIC Educational Resources Information Center

    Lindgren, Monica; Ericsson, Claes

    2010-01-01

    In this article, based on the results of a larger research project funded by the Swedish Research Council (Ericsson and Lindgren 2010), the authors discuss and problematize the rock band context in music education in Swedish compulsory schools in relation to governance and knowledge formation. The empirical material on which the study is based…

  2. Together? On Childcare as a Meeting Place in a Swedish City.

    ERIC Educational Resources Information Center

    Perez Prieto, Hector; Sahlstrom, Fritjof; Calander, Finn; Karlsson, Marie; Heikkila, Mia

    2003-01-01

    Studied parent's choice of preschool facility in a Swedish city to illustrate social and cultural changes in Swedish society. Findings from a survey completed by 1,584 mothers show that parents' use of the right to choose a preschool facility is economically, socially, and culturally segregated, although patterns of choice are not a simple effect…

  3. Democracy Lessons in Market-Oriented Schools: The Case of Swedish Upper Secondary Education

    ERIC Educational Resources Information Center

    Lundahl, Lisbeth; Olson, Maria

    2013-01-01

    Based on recent ethnographic research, this article explores young people's opportunities of formal and informal democracy learning and expressions of such learning in the highly market-influenced Swedish upper secondary education. With its ambitious democracy-fostering goals and far-reaching marketisation, Swedish education constitutes an…

  4. Entrepreneurial Learning in Swedish Preschools: Possibilities for and Constraints on Children's Active Participation

    ERIC Educational Resources Information Center

    Insulander, Eva; Ehrlin, Anna; Sandberg, Anette

    2015-01-01

    The website of the Swedish National Agency for Education states that preschools are to promote entrepreneurial learning. Many Swedish preschools, therefore, have started to work consciously with entrepreneurial learning as a way of fostering pupils' creativity and ability to make their own decisions. This article investigates whether and how…

  5. Swedish or English? Migrants' Experiences of the Exchangeability of Language Resources

    ERIC Educational Resources Information Center

    Henry, Alastair

    2016-01-01

    Patterns of transmigration emerging as a consequence of globalization are creating new and complex markets for communicative resources in which languages and language varieties are differently valued. In a Swedish context, where lingua franca English can facilitate communication but where monolingual norms prevail and Swedish is positioned as the…

  6. Gender and Technology in Free Play in Swedish Early Childhood Education

    ERIC Educational Resources Information Center

    Hallström, Jonas; Elvstrand, Helene; Hellberg, Kristina

    2015-01-01

    In the new Swedish curriculum for the preschool (2010) technology education is emphasized as one of the most significant pedagogical areas to work with. The aim of this article is to investigate how girls and boys explore and learn technology as well as how their teachers frame this in free play in two Swedish preschools. The study is inspired by…

  7. The Swedish Principal: Leadership Style, Decision-Making Style, and Motivation Profile

    ERIC Educational Resources Information Center

    Hansson, Per H.; Andersen, Jon Aarum

    2007-01-01

    The Swedish schools have been under pressure for change for several decades. How leaders behave can be of vital importance in times of change. The principal is responsible for both the educational program and for the school budget. Two hundred Swedish principals (male and female) responded to questionnaires concerning their leadership style,…

  8. Cultivating Swedishness? Examples of Imagined Kinship during the First Half of the 20th Century

    ERIC Educational Resources Information Center

    Thomasson, Adrian

    2015-01-01

    Different representations of "Swedishness," as expressions of altered kinds of imagined kinship in the Swedish educational system during the first half of the 20th century, are discussed. It is argued that even though the curriculum changed, from a more religious one focusing on fostering loyalty and moral commitment to "God, the…

  9. Individual and Flexible: Working Conditions in the Practice of Swedish Distance-Based Teacher Education

    ERIC Educational Resources Information Center

    Lindberg, J. Ola; Olofsson, Anders D.

    2006-01-01

    This article reports on the working conditions within Swedish ICT-supported distance-based teacher education. Data collected from teacher trainees are analyzed and discussed in relation to Swedish governmental policies concerning teacher education and distance education and theories emphasizing the importance of social aspects of education. The…

  10. Introducing National Tests in Swedish Primary Education: Implications for Test Anxiety

    ERIC Educational Resources Information Center

    Nyroos, Mikaela; Wiklund-Hornqvist, Carola

    2011-01-01

    Introduction: The Swedish government has decided to introduce national tests in primary education. Swedish pupils in general have few tests and a recognised possible adverse effect of testing is test anxiety among pupils, which may have a negative impact on examination performance. However, there has been little research on effects of testing on…

  11. Class-Size Effects on Adolescents' Mental Health and Well-Being in Swedish Schools

    ERIC Educational Resources Information Center

    Jakobsson, Niklas; Persson, Mattias; Svensson, Mikael

    2013-01-01

    This paper analyzes whether class size has an effect on the prevalence of mental health problems and well-being among adolescents in Swedish schools. We use cross-sectional data collected in year 2008 covering 2755 Swedish adolescents in ninth grade from 40 schools and 159 classes. We utilize different econometric approaches to address potential…

  12. Teachers' Access to and Use of ICT: An Indicator of Growing Inequity in Swedish Schools

    ERIC Educational Resources Information Center

    Thunman, Elin; Persson, Marcus

    2013-01-01

    In light of how the knowledge society may give rise to new forms of inequity in schools, the purpose of this article is to examine the stratification of Swedish schoolteachers' access to and use of ICT. The empirical data consist of a nationwide survey conducted in 2010, involving 6000 Swedish teachers in all grades (except pre-school and…

  13. First Language Paradigms in Conflict: Hidden Dialogue in Swedish Curricula 1962-2011

    ERIC Educational Resources Information Center

    Hellberg, Staffan

    2012-01-01

    Seven successive curricula for Swedish in the Swedish primary school are investigated using a linguistic method that traces its origin to the Russian literary theorist, Michail Bakhtin. The amount of dialogicity, viewed as the room given to different paradigms to argue against each other, is shown to decrease from the earlier curricula to the…

  14. Education, Labour Market and Human Capital Models: Swedish Experiences and Theoretical Analyses.

    ERIC Educational Resources Information Center

    Sohlman, Asa

    An empirical study concerning development of the Swedish educational system from a labor market point of view, and a theoretical study on human capital models are discussed. In "Education and Labour Market; The Swedish Experience 1900-1975," attention is directed to the following concerns: the official educational policy regarding education and…

  15. Environmental Influence on Language Acquisition: Comparing Second and Foreign Language Acquisition of Swedish

    ERIC Educational Resources Information Center

    Hakansson, Gisela; Norrby, Catrin

    2010-01-01

    This article explores the influence of the learning environment on the second language acquisition of Swedish. Data were collected longitudinally over 1 year from 35 university students studying Swedish in Malmo, Sweden, and in Melbourne, Australia. Three areas were investigated: grammar, pragmatics, and lexicon. The development of grammar was…

  16. A Critical Mapping of Practice-Based Research as Evidenced by Swedish Architectural Theses

    ERIC Educational Resources Information Center

    Buchler, Daniela; Biggs, Michael A. R.; Stahl, Lars-Henrik

    2011-01-01

    This article presents an investigation that was funded by the Swedish Institute into the role of creative practice in architectural research as evidenced in Swedish doctoral theses. The sample was mapped and analysed in terms of clusters of interest, approaches, cultures of knowledge and uses of creative practice. This allowed the identification…

  17. English Proficiency and Attitude Formation in a Merged Corporation with a Swedish-English Profile

    ERIC Educational Resources Information Center

    Mobarg, Mats

    2012-01-01

    This study investigates the relationship between proficiency in English and language-related attitudes among Swedish professionals at the English-speaking AstraZeneca R&D site in Molndal, Sweden. AstraZeneca is the result of a merger between a Swedish and a British pharmaceutical company, and the aim of the study is to see to what extent their…

  18. The Politics of Teacher Professionalism: Intraprofessional Boundary Work in Swedish Teacher Union Policy

    ERIC Educational Resources Information Center

    Lilja, Peter

    2014-01-01

    Taking the latest reform of Swedish teacher education as a point of departure, the aim of this article is to analyse the way Swedish teacher unions construct a knowledge base for teaching as a strategy of professionalisation. The analysis shows that the unions construct such a knowledge base from opposing points of departure. Their professional…

  19. Keeping It Local: Evidence for Positive Selection in Swedish Arabidopsis thaliana

    PubMed Central

    Huber, Christian D.; Nordborg, Magnus; Hermisson, Joachim; Hellmann, Ines

    2014-01-01

    Detecting positive selection in species with heterogeneous habitats and complex demography is notoriously difficult and prone to statistical biases. The model plant Arabidopsis thaliana exemplifies this problem: In spite of the large amounts of data, little evidence for classic selective sweeps has been found. Moreover, many aspects of the demography are unclear, which makes it hard to judge whether the few signals are indeed signs of selection, or false positives caused by demographic events. Here, we focus on Swedish A. thaliana and we find that the demography can be approximated as a two-population model. Careful analysis of the data shows that such a two island model is characterized by a very old split time that significantly predates the last glacial maximum followed by secondary contact with strong migration. We evaluate selection based on this demography and find that this secondary contact model strongly affects the power to detect sweeps. Moreover, it affects the power differently for northern Sweden (more false positives) as compared with southern Sweden (more false negatives). However, even when the demographic history is accounted for, sweep signals in northern Sweden are stronger than in southern Sweden, with little or no positional overlap. Further simulations including the complex demography and selection confirm that this is not compatible with global selection acting on both populations, and thus can be taken as evidence for local selection within subpopulations of Swedish A. thaliana. This study demonstrates the necessity of combining demographic analyses and sweep scans for the detection of selection, particularly when selection acts predominantly local. PMID:25158800

  20. Changes in sobriety in the Swedish population over three decades: age, period or cohort effects?

    PubMed Central

    Ahacic, Kozma; Kennison, Robert F; Kåreholt, Ingemar

    2012-01-01

    Aims This study aimed to examine age, cohort and period trends in alcohol abstinence. Design Two surveys, the Level of Living Survey collected in 1968, 1974, 1981, 1990 and 2000, and the Swedish Panel Study of the Oldest Old (SWEOLD) collected in 1992 and 2002, were studied with graphical depictions of cross-sectional and longitudinal data presented over time and over age. Cross-sectional 10-year age group differences, time-lag differences between waves and within-cohort differences between waves for 10-year birth cohorts were examined. Logistic regression models were applied to confirm the observed patterns. Setting The samples were representative of the Swedish population. Participants Participants ranged in age from 18 to 75 (n = 5000 per wave), and 77+ at later waves (n = 500). Measurements Alcohol abstinence was determined by asking ‘Do you ever drink wine, beer, or spirits?’, where a ‘no’ response indicated abstinence. Findings Decreases in abstinence rates were observed from 1968 to 2000/02. While cross-sectional analysis indicated increased abstinence with advancing age, the longitudinal analysis suggested otherwise. Inspection of cohort differences revealed little change within cohorts and large differences between cohorts; abstinence rates declined in later-born cohorts up to the 1940s birth cohorts; stability was observed in cohorts born since the 1940s. Logistic regression models indicated that neither age nor period were significant (P > 0.05) predictors of abstinence when cohort (P < 0.001) was included. Conclusion Decreasing proportions of total alcohol abstainers in Sweden from 1968 to 2000 appear to be attributable primarily to decreases in successive cohorts rather than drinkers becoming abstainers. PMID:22008293

  1. Sleep duration and activity levels in Estonian and Swedish children and adolescents.

    PubMed

    Ortega, Francisco B; Ruiz, Jonatan R; Labayen, Idoia; Kwak, Lydia; Harro, Jaanus; Oja, Leila; Veidebaum, Toomas; Sjöström, Michael

    2011-10-01

    We aimed to examine the associations of sleep duration with time spent on sedentary, moderate and vigorous activities in children and adolescents. The sample consisted of 2,241 (53.5% girls) Estonian and Swedish children (9-10 years) and adolescents (15-16 years), from the European Youth Heart Study, in 1998-1999. Sleep duration was calculated by the difference between self-reported bedtime and time for getting up on a normal weekday. Sedentary time/physical activity was measured by accelerometry (valid data on 1,462 participants). Adolescents had lower odds than children, and Swedish higher odds than Estonian, of meeting the sleep recommendations (>9 h) (OR = 0.22, 95% CI 0.17-0.27; and 1.32, 1.07-1.61, respectively). Participants sleeping longer than 10 h spent more time on physical activities (all intensities) and less time on sedentary activities than those sleeping shorter durations (all P < 0.001). The associations with physical activity became non-significant after additional adjustment for age or sexual maturation (Tanner stages), whereas the associations with sedentary time became borderline significant (P = 0.09/0.03, for age and Tanner, respectively). In conclusion, these results do not suggest a link between sleep durations and activity in a relatively large sample of children and adolescents from two European countries. Consequently, the common assumption that physical activity is a mediator in the relationship between short sleep durations and obesity is not supported by our findings.

  2. Quartz and dust exposure in Swedish iron foundries.

    PubMed

    Andersson, Lena; Bryngelsson, Ing-Liss; Ohlson, Carl-Göran; Nayström, Peter; Lilja, Bengt-Gunnar; Westberg, Håkan

    2009-01-01

    Exposure to respirable quartz continues to be a major concern in the Swedish iron foundry industry. Recommendations for reducing the European occupational exposure limit (EU-OEL) to 0.05 mg/m3 and the corresponding ACGIH(R) threshold limit value (ACGIH-TLV) to 0.025 mg/m3 prompted this exposure survey. Occupational exposure to respirable dust and respirable quartz were determined in 11 Swedish iron foundries, representing different sizes of industrial operation and different manufacturing techniques. In total, 436 respirable dust and 435 respirable quartz exposure measurements associated with all job titles were carried out and are presented as time-weighted averages. Our sampling strategy enabled us to evaluate the use of respirators in certain jobs, thus determining actual exposure. In addition, measurements using real-time dust monitors were made for high exposure jobs. For respirable quartz, 23% of all the measurements exceeded the EU-OEL, and 56% exceeded the ACGIH-TLV. The overall geometric mean (GM) for the quartz levels was 0.028 mg/m3, ranging from 0.003 to 2.1 mg/m3. Fettler and furnace and ladle repair operatives were exposed to the highest levels of both respirable dust (GM = 0.69 and 1.2 mg/m3; range 0.076-31 and 0.25-9.3 mg/m3 and respirable quartz (GM = 0.041 and 0.052 mg/m3; range 0.004-2.1 and 0.0098-0.83 mg/m3. Fettlers often used respirators and their actual quartz exposure was lower (range 0.003-0.21 mg/m3, but in some cases it still exceeded the Swedish OEL (0.1 mg/m3. For furnace and ladle repair operatives, the actual quartz exposure did not exceed the OEL (range 0.003-0.08 mg/m3, but most respirators provided insufficient protection, i.e., factors less than 200. In summary, measurements in Swedish iron foundries revealed high exposures to respirable quartz, in particular for fettlers and furnace and ladle repair workers. The suggested EU-OEL and the ACGIH-TLV were exceeded in, respectively, 23% and 56% of all measurements regardless of the

  3. The Swedish system for compensation of patient injuries.

    PubMed

    Johansson, Henry

    2010-05-01

    Since 1975 Sweden has had a patient insurance system to compensate patients for health-related injuries. The system was initially based on a voluntary patient insurance solution, but in 1997 it was replaced by the Patient Insurance Act. The current Act covers both physical and mental injuries. Although about 9,000-10,000 cases are processed in Sweden annually, compensation is paid in barely half of these cases. In the Swedish patient injury claim processing system, the Patient Claims Panel is the authority that plays an important role in ensuring fair and consistent application of the Act.

  4. The Swedish Regional Climate Modelling Programme, SWECLIM: a review.

    PubMed

    Rummukainen, Markku; Bergström, Sten; Persson, Gunn; Rodhe, Johan; Tjernström, Michael

    2004-06-01

    The Swedish Regional Climate Modelling Programme, SWECLIM, was a 6.5-year national research network for regional climate modeling, regional climate change projections and hydrological impact assessment and information to a wide range of stakeholders. Most of the program activities focussed on the regional climate system of Northern Europe. This led to the establishment of an advanced, coupled atmosphere-ocean-hydrology regional climate model system, a suite of regional climate change projections and progress on relevant data and process studies. These were, in turn, used for information and educational purposes, as a starting point for impact analyses on different societal sectors and provided contributions also to international climate research. PMID:15264594

  5. Outbreak of Salmonella Thompson infection in a Swedish dairy herd.

    PubMed

    Sternberg, S; Johnsson, A; Aspan, A; Bergström, K; Kallay, T B; Szanto, E

    2008-11-15

    Salmonella Typhimurium was isolated from a faecal sample from a cow in a Swedish dairy herd after calving. When investigations were undertaken in the herd, Salmonella Thompson was isolated from heifers on a separate pasture, and when these heifers were brought into the herd S Thompson spread rapidly. Control strategies managed to rid the herd of the S Typhimurium infection and the prevalence of S Thompson was at first substantially reduced. There was a rapid increase in its prevalence when the animals were let out to pasture and this development eventually led to the depopulation of the entire herd. PMID:19011246

  6. Swedish Solar Telescope - Short summary of instrumentation and observation techniques

    NASA Astrophysics Data System (ADS)

    Scharmer, Goran; Lofdahl, Mats

    A short summary of the design concepts of the Swedish Solar Telescope at La Palma is given along with the most important parts of the instrumentation and observing techniques. The experience from using high-speed read-out CCDs for solar observations is also discussed. The advantages of this data acquisition system are that it allows real-time frame selection for achieving high spatial resolution, that several cameras can be slaved by one seeing monitor, and that bursts of digital images can be recorded for full spatial coverage of small parts of active regions.

  7. Revisiting causal neighborhood effects on individual ischemic heart disease risk: a quasi-experimental multilevel analysis among Swedish siblings.

    PubMed

    Merlo, Juan; Ohlsson, Henrik; Chaix, Basile; Lichtenstein, Paul; Kawachi, Ichiro; Subramanian, S V

    2013-01-01

    Neighborhood socioeconomic disadvantage is associated to increased individual risk of ischemic heart disease (IHD). However, the value of this association for causal inference is uncertain. Moreover, neighborhoods are often defined by available administrative boundaries without evaluating in which degree these boundaries embrace a relevant socio-geographical context that condition individual differences in IHD risk. Therefore, we performed an analysis of variance, and also compared the associations obtained by conventional multilevel analyses and by quasi-experimental family-based design that provides stronger evidence for causal inference. Linking the Swedish Multi-Generation Register to several other national registers, we analyzed 184,931 families embracing 415,540 full brothers 45-64 years old in 2004, and residing in 8408 small-area market statistics (SAMS) considered as "neighborhoods" in our study. We investigated the association between low neighborhood income (categorized in groups by deciles) and IHD risk in the next four years. We distinguished between family mean and intrafamilial-centered low neighborhood income, which allowed us to investigate both unrelated individuals from different families and full brothers within families. We applied multilevel logistic regression techniques to obtain odds ratios (OR), variance partition coefficients (VPC) and 95% credible intervals (CI). In unrelated individuals a decile unit increase of low neighborhood income increased individual IHD risk (OR = 1.04, 95% CI: 1.03-1.07). In the intrafamilial analysis this association was reduced (OR = 1.02, 95% CI: 1.02-1.04). Low neighborhood income seems associated with IHD risk in middle-aged men. However, despite the family-based design, we cannot exclude residual confounding by genetic and non-shared environmental factors. Besides, the low neighborhood level VPC = 1.5% suggest that the SAMS are a rather inappropriate construct of the socio-geographic context that

  8. A School for Everyone?: The Swedish School System's Struggles to Reconcile Societal Goals with School and Classroom Practices

    ERIC Educational Resources Information Center

    O'Brien, Leigh M.

    2007-01-01

    In this article, the author discusses her investigations into the connection between the values of Swedish society and Swedish classroom practices by way of the early childhood special education system. She describes Swedish educational policies and the challenges surrounding moving from policy to practice, and also uncovers themes regarding…

  9. Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.

    PubMed

    Protasova, Maria S; Grigorenko, Anastasia P; Tyazhelova, Tatiana V; Andreeva, Tatiana V; Reshetov, Denis A; Gusev, Fedor E; Laptenko, Alexander E; Kuznetsova, Irina L; Goltsov, Andrey Y; Klyushnikov, Sergey A; Illarioshkin, Sergey N; Rogaev, Evgeny I

    2016-04-01

    X-linked congenital cerebellar ataxia is a heterogeneous nonprogressive neurodevelopmental disorder with onset in early childhood. We searched for a genetic cause of this condition, previously reported in a Buryat pedigree of Mongolian ancestry from southeastern Russia. Using whole-genome sequencing on Illumina HiSeq 2000 platform, we found a missense mutation in the ABCB7 (ABC-binding cassette transporter B7) gene, encoding a mitochondrial transporter, involved in heme synthesis and previously associated with sideroblastic anemia and ataxia. The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. Moreover, in these affected men we also found the genetic defects in two other genes closely linked to ABCB7 on chromosome X: a deletion of a genomic region harboring the second exon of copper-transporter gene (ATP7A) and a complete deletion of PGAM4 (phosphoglycerate mutase family member 4) retrogene located in the intronic region of the ATP7A gene. Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers. The role of the PGAM4 gene has been previously implicated in human reproduction, but our data indicate that its complete loss does not disrupt male fertility. Our finding links cerebellar pathology to the genetic defect in ABCB7 and ATP7A structural variant inherited as X-linked trait, and further reveals the genetic heterogeneity of X-linked cerebellar disorders.

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

    SciTech Connect

    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.

  11. The Swedish Deep Drilling Program - an emerging scientific drilling program and new infrastructure.

    NASA Astrophysics Data System (ADS)

    Lorenz, Henning; Juhlin, Christopher

    2010-05-01

    Scientific drilling projects imply numerous aspects that are difficult to handle for individual research groups. Therefore, about three years ago a joint effort was launched in the Swedish geoscientific community to establish a national program for scientific drilling, the Swedish Deep Drilling Program (SDDP). Soon afterwards, several working groups established drilling proposals with Nordic and, also, international participation. With this serious interest in scientific drilling SDDP was able to successfully promote the Swedish membership in ICDP which commenced in 2008. Two SDDP projects achieved workshop grants from the International Continental Scientific Drilling Program (ICDP) in 2009. In the same year the Swedish Research Council decided to support an application for a truck-mounted drill rig - a big success for the SDDP working group. Scientific Drilling infrastructure: SDDP envisages a mobile platform that is capable of core drilling to at least 2500 m depth. The procurement will be made during 2010 and first operations are planned for 2011. This drill rig is primarily intended for use in the SDDP drilling projects, but will be rented out to other scientific drilling projects or even commercial enterprises in the remaining time to cover maintenance and future upgrade costs. SDDP's drill rig will be unique in Europe and complementary to the deep drilling InnovaRig of the GFZ German Research Centre for Geosciences. Until now, drilling to 2000 - 3000 m implied the use of a full-sized drill rig like the InnovaRig or the mobilization of a core drill rig from another continent. This gap will now be filled by Sweden's upcoming scientific drilling infrastructure. Drilling projects and proposals: Presently, SDDP serves six projects: "Collisional Orogeny in the Scandinavian Caledonides" (COSC; ICDP workshop spring 2010), the "Postglacial Fault Drilling Project" (PFDP; ICDP workshop autumn 2010), a "Deep Rock Laboratory" (DRL), "Palaeoproterozoic Mineralized Volcanic

  12. 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.

    PubMed

    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.

  13. [Men and family planning].

    PubMed

    Vieira, J G

    1993-01-01

    Family planning programs since their beginnings have focused exclusively on women. The importance of male participation in family planning has not been recognized. Today's society demands greater understanding and empathy between spouses, if they are to meet the new and difficult challenges of modern life. Incorporation of men into family planning programs is needed because of the deteriorating live conditions of a large segment of the population and the accelerating decomposition of social structures. Persuading men to participate in family planning should strengthen the couple and increase the probability that decisions about family size will be responsible. Strategies should be designed to interest men in family planning and increase their awareness of their role in fathering happy children who enter the world in more just and humane conditions. Such strategies must combat sex role socialization that begins in infancy. The assignment of responsibility for family planning to the woman excludes men from what should be a fundamental role.

  14. Family Meals

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy 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 ...

  15. Family Arguments

    MedlinePlus

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

  16. Family History

    MedlinePlus

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

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

    PubMed Central

    2009-01-01

    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 functional studies and provide

  18. Health information, an area for competition in Swedish pharmacies

    PubMed Central

    Larsson, Elin C.; Viberg, Nina; Vernby, Åsa; Nordmark, Johanna; Stålsby-Lundborg, Cecilia

    2008-01-01

    Objective To investigate the views and expectations of a selected group of customers regarding health information in Swedish pharmacies. Methods A repeated cross sectional, questionnaire study carried out in 2004 and 2005. Customers buying calcium products answered questions on osteoporosis and general questions on health promotion and information. Results Respondents had a positive attitude towards receiving health information from the pharmacies and towards the pharmacies’ future role in health promotion. However, only 30% of the respondents expected to get information on general health issues from the pharmacy. In spite of this, 76% (2004) and 72% (2005) of the respondents believed that the pharmacies could influence people’s willingness to improve their health. Conclusion There is a gap between the respondents’ positive attitudes towards the Swedish pharmacies and their low expectations as regards the pharmacies’ ability to provide health information. In the light of the upcoming change to the state monopoly on medicine sales, this gap could be an important area for competition between the actors in the new situation for medicine sales in Sweden. PMID:25157284

  19. Properties of Swedish posttraumatic stress measures after a disaster.

    PubMed

    Arnberg, Filip K; Michel, Per-Olof; Johannesson, Kerstin Bergh

    2014-05-01

    This study evaluated the properties of Swedish versions of self-report measures of posttraumatic stress disorder (PTSD), with emphasis on the Impact of Event Scale-Revised (IES-R). Survey data from adult survivors 1, 3, and 6 years after the 2004 Indian Ocean tsunami (n=1506) included the IES-R (from which the IES-6 was derived) and the 12-item General Health Questionnaire (GHQ-12). The PTSD Checklist (PCL) was included in one survey. A structured clinical interview was performed after 6 years (n=142). Factor analyses of the IES-R and PCL indicated that a dysphoric-arousal model provided good fit invariant across assessments. Both measures were accurate in excluding PTSD while all measures provided poorer positive predictive values. The IES-R, but not the IES-6 and GHQ-12, evidenced stability across assessments. In conclusion, the Swedish IES-R and PCL are sound measures of chronic PTSD, and the findings illustrate important temporal aspects of PTSD assessment.

  20. Experiences of Injuries and Injury Reporting among Swedish Skydivers

    PubMed Central

    Jong, Mats; Westman, Anton; Saveman, Britt-Inger

    2014-01-01

    The objective was to illuminate the experience of injuries and the process of injury reporting within the Swedish skydiving culture. Data contained narrative interviews that were subsequently analyzed with content analysis. Seventeen respondents (22–44 years) were recruited at three skydiving drop zones in Sweden. In the results injury events related to the full phase of a skydive were described. Risk of injury is individually viewed as an integrated element of the recreational activity counterbalanced by its recreational value. The human factor of inadequate judgment such as miscalculation and distraction dominates the descriptions as causes of injuries. Organization and leadership act as facilitators or constrainers for reporting incidents and injuries. On the basis of this study it is interpreted that safety work and incident reporting in Swedish skydiving may be influenced more by local drop zone culture than the national association regulations. Formal and informal hierarchical structures among skydivers seem to decide how skydiving is practiced, rules are enforced, and injuries are reported. We suggest that initial training and continuing education need to be changed from the current top-down to a bottom-up perspective, where the individual skydiver learns to see the positive implications of safety work and injury reporting. PMID:26464887

  1. Psychometric properties of the Swedish version of the Resilience Scale.

    PubMed

    Lundman, Berit; Strandberg, Gunilla; Eisemann, Martin; Gustafson, Yngve; Brulin, Christine

    2007-06-01

    The aim of this study was to investigate resilience in relation to age and gender, and to elucidate the underlying structure of the Swedish version of the Resilience Scale (RS). The RS, originally created by Wagnild and Young is a 25 items scale of Lickert type with possible scores ranges from 25 to 175, the higher the score, the stronger resilience. A standardized procedure was used for translation. The analysis was based on 1719 participants, 1248 women and 471 men, from eight different samples, aged from 19 to 103 years. We found that the participants estimated their resilience as relatively high. There was a significant relationship between age and resilience, for every year RS score increased with 0.134 units. There was no relation between gender and resilience. From a factor analyses five factors emerged, equanimity, meaningfulness, perseverance, existential aloneness and self-reliance reflecting the five dimensions described by Wagnild and Young. We concluded that the resilience is related to age, the older, the stronger resilience. Five underlying dimensions was identified, which can be seen as reflection of the theoretical assumptions behind the RS scale. The RS scale seems applicable to a Swedish population. PMID:17559442

  2. Risk of malignant lymphoma in Swedish agricultural and forestry workers.

    PubMed Central

    Wiklund, K; Lindefors, B M; Holm, L E

    1988-01-01

    The risk of malignant lymphoma after possible exposure to phenoxy acid herbicides was studied in 354,620 Swedish men who, according to a national census in 1960, were employed in agriculture or forestry. The cohort was divided into subcohorts according to assumed exposure and compared with 1,725,645 Swedish men having other economic activities. All were followed up in the Cancer-Environment Register between 1961 and 1979. Non-Hodgkin lymphoma was found in 861 men in the study cohort. The relative risk was not significantly increased in any subcohort, did not differ significantly between the subcohorts, and showed no time related increase in the total cohort or any subcohort. Hodgkin's disease was found in 355 men in the study cohort. Relative risks significantly higher than unity were found among fur farming and silviculture workers where the relative risks were 4.45 and 2.26, respectively. All five cases in the former group were engaged in mink farming. A time related rising trend in relative risk was found in the silviculture subcohort. Elsewhere the relative risk did not diverge from unity and no time related trend was discernible. PMID:3342183

  3. Risk Gambling and Personality: Results from a Representative Swedish Sample.

    PubMed

    Sundqvist, Kristina; Wennberg, Peter

    2015-12-01

    The association between personality and gambling has been explored previously. However, few studies are based on representative populations. This study aimed at examining the association between risk gambling and personality in a representative Swedish population. A random Swedish sample (N = 19,530) was screened for risk gambling using the Lie/Bet questionnaire. The study sample (N = 257) consisted of those screening positive on Lie/Bet and completing a postal questionnaire about gambling and personality (measured with the NODS-PERC and the HP5i respectively). Risk gambling was positively correlated with Negative Affectivity (a facet of Neuroticism) and Impulsivity (an inversely related facet of Conscientiousness), but all associations were weak. When taking age and gender into account, there were no differences in personality across game preference groups, though preferred game correlated with level of risk gambling. Risk gamblers scored lower than the population norm data with respect to Negative Affectivity, but risk gambling men scored higher on Impulsivity. The association between risk gambling and personality found in previous studies was corroborated in this study using a representative sample. We conclude that risk and problem gamblers should not be treated as a homogeneous group, and prevention and treatment interventions should be adapted according to differences in personality, preferred type of game and the risk potential of the games.

  4. Familial cancer among consecutive uterine cancer patients in Sweden

    PubMed Central

    2014-01-01

    Background Uterine cancer (UC) represents 5.1% of all female malignancies in Sweden. Accumulation of UC in families occurs in around 5% of cases. We wanted to identify any familial association between UC and other selected cancers and to study the frequency of Lynch,Cowden and cancer syndromes among consecutive UC patients in Sweden. Methods 481 UC patients were included. Information on the cancer diagnoses of their relatives (first- (FDRs) and second-degree (SDRs) relatives and first cousins) was obtained. The relative frequencies of different cancers among relatives were compared to those in the Swedish general cancer population in 1970 and 2010. Families that fulfilled the criteria for hereditary cancer syndromes were tested for mutations in the causative genes. Families with at least one case of UC in addition to the index patient were compared to families with no additional cases to investigate possible characteristics of putative hereditary cancer syndromes. Results There was an increased prevalence of UC in our study population compared to the Swedish general cancer population in 1970 and 2010 (6% vs. 4% and 3%, respectively). Seven families had Lynch Syndrome according to the Amsterdam II criteria. No families fulfilled the criteria for Cowden syndrome. In total 13% of index patients had at least one relative with UC and these families tended to have more cases of early onset cancer among family members. In addition, 16% of index patients were diagnosed with at least one other cancer. No families fulfilled the criteria for Cowden syndrome. Conclusion We showed a familial clustering of UC among relatives of our index patients. Of the seven families with mutation-verified Lynch Syndrome, only one had been previously diagnosed, highlighting the need to increase gynecologists’ awareness of the importance of taking family history. Our data on multiple cancers and young age of onset in families with uterine cancer is compatible with the existence of additional

  5. Families living with chronic illness: beliefs about illness, family, and health care.

    PubMed

    Årestedt, Liselott; Benzein, Eva; Persson, Carina

    2015-05-01

    Beliefs can be described as the lenses through which we view the world. With emerging illness, beliefs about the illness experience become important for nurses to understand to enhance well-being and healing. The aim of this study was to illuminate illness beliefs of families living with chronic illness. A qualitative design was chosen, including repeated narrative research interviews with seven Swedish families living with chronic illness. Hermeneutic analysis was used to interpret the transcribed family interviews. The result described beliefs in families, both within and across families. Both core beliefs and secondary beliefs about illness, family, and health care were revealed. Illness beliefs have importance for how families respond to and manage situations that arise from their encounters with illness. Nurses have to make space for and listen to families' stories of illness to become aware of what beliefs may support and encourage family well-being and healing. The Illness Beliefs Model provides a touchstone whereby nurses can distinguish both individual and shared beliefs within families living with chronic illness and provide ideas for family intervention if needed.

  6. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

    PubMed

    Khan, Muzammil A; Rupp, Verena M; Orpinell, Meritxell; Hussain, Muhammad S; Altmüller, Janine; Steinmetz, Michel O; Enzinger, Christian; Thiele, Holger; Höhne, Wolfgang; Nürnberg, Gudrun; Baig, Shahid M; Ansar, Muhammad; Nürnberg, Peter; Vincent, John B; Speicher, Michael R; Gönczy, Pierre; Windpassinger, Christian

    2014-11-15

    Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By homozygosity mapping including three affected individuals from a consanguineous MCPH family from Pakistan, we delineated a critical region of 18.53 Mb on Chromosome 1p21.3-1p13.1. This region contains the gene encoding HsSAS-6, a centrosomal protein primordial for seeding the formation of new centrioles during the cell cycle. Both next-generation and Sanger sequencing revealed a homozygous c.185T>C missense mutation in the HsSAS-6 gene, resulting in a p.Ile62Thr substitution within a highly conserved region of the PISA domain of HsSAS-6. This variant is neither present in any single-nucleotide polymorphism or exome sequencing databases nor in a Pakistani control cohort. Experiments in tissue culture cells revealed that the Ile62Thr mutant of HsSAS-6 is substantially less efficient than the wild-type protein in sustaining centriole formation. Together, our findings demonstrate a dramatic impact of the mutation p.Ile62Thr on HsSAS-6 function and add this component to the list of genes mutated in primary microcephaly.

  7. Quantitative Multiplexed Analysis of ErbB Family Co-expression for Primary Breast Cancer Prognosis in a Large Retrospective Cohort

    PubMed Central

    Giltnane, Jennifer M.; Moeder, Christopher B.; Camp, Robert L.; Rimm, David L.

    2009-01-01

    Background Assessment of outcome using a single prognostic or predictive marker is the current basis of targeted therapy, but is inherently limited by its simplicity. Multiplexing has provided better classification but only been done quantitatively using RNA or DNA. Automated quantitative analysis (AQUA) is a new technology that allows quantitative in situ assessment of protein expression. We hypothesize that multiplexed quantitative measurement of ErbB receptor family proteins may allow better prediction of outcome. Methods We quantitatively assessed the expression of six proteins in four subcellular compartments in 676 patients using breast carcinoma tissue microarrays (TMA). Then using Cox proportional hazards modeling and unsupervised hierarchical clustering, we assessed the prognostic value of the expression singly and multiplexed. Results EGFR, HER-2 and HER-3 expression were associated with decreased survival. Multivariate analysis showed high HER-2 and HER-3 expression maintained independence as prognostic markers. Hierarchical clustering of expression data defined a small class enriched for HER-2 expression with 40% 10 year survival, compared to 55% using conventional methods. Clustering also revealed a similarly poor-prognostic subgroup co-expressing EGFR and HER-3 (but low for ER, PR and HER-2) with a 42% 10 year survival. Conclusions This work shows that the combined analysis of protein expression improved prognostic classification and that multiplexed models were superior to any single marker-based method for prediction of 10-year survival. These methods illustrate a protein-based, multiplexed approach that could more accurately identify patients for targeted therapies. PMID:19330842

  8. Families in the Military

    MedlinePlus

    ... have led to deployment of large numbers of military personnel (active duty, Reserves, National Guard). As a result ... worries and plans for the future. Let your child know that the family member is making a ...

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

    PubMed

    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.

  10. Obsessive–compulsive symptoms in a large population-based twin-family sample are predicted by clinically based polygenic scores and by genome-wide SNPs

    PubMed Central

    den Braber, A; Zilhão, N R; Fedko, I O; Hottenga, J-J; Pool, R; Smit, D J A; Cath, D C; Boomsma, D I

    2016-01-01

    Variation in obsessive–compulsive symptoms (OCS) has a heritable basis, with genetic association studies starting to yield the first suggestive findings. We contribute to insights into the genetic basis of OCS by performing an extensive series of genetic analyses in a homogeneous, population-based sample from the Netherlands. First, phenotypic and genetic longitudinal correlations over a 6-year period were estimated by modeling OCS data from twins and siblings. Second, polygenic risk scores (PRS) for 6931 subjects with genotype and OCS data were calculated based on meta-analysis results from IOCDF-GC, to investigate their predictive value. Third, the contribution of measured single nucleotide polymorphisms (SNPs) to the heritability was estimated using random-effects modeling. Last, we performed an exploratory genome-wide association study (GWAS) of OCS, testing for SNP- and for gene-based associations. Stability in OCS (test–retest correlation 0.63) was mainly explained by genetic stability. The PRS based on clinical samples predicted OCS in our population-based twin-family sample. SNP-based heritability was estimated at 14%. GWAS revealed one SNP (rs8100480), located within the MEF2BNB gene, associated with OCS (P=2.56 × 10−8). Additional gene-based testing resulted in four significantly associated genes, which are located in the same chromosomal region on chromosome 19p13.11: MEF2BNB, RFXANK, MEF2BNB-MEF2B and MEF2B. Thus, common genetic variants explained a significant proportion of OCS trait variation. Genes significantly associated with OCS are expressed in the brain and involved in development and control of immune system functions (RFXANK) and regulation of gene expression of muscle-specific genes (MEF2BNB). MEF2BNB also showed a suggestive association with OCD in an independent case–control study, suggesting a role for this gene in the development of OCS. PMID:26859814

  11. Obsessive-compulsive symptoms in a large population-based twin-family sample are predicted by clinically based polygenic scores and by genome-wide SNPs.

    PubMed

    den Braber, A; Zilhão, N R; Fedko, I O; Hottenga, J-J; Pool, R; Smit, D J A; Cath, D C; Boomsma, D I

    2016-01-01

    Variation in obsessive-compulsive symptoms (OCS) has a heritable basis, with genetic association studies starting to yield the first suggestive findings. We contribute to insights into the genetic basis of OCS by performing an extensive series of genetic analyses in a homogeneous, population-based sample from the Netherlands. First, phenotypic and genetic longitudinal correlations over a 6-year period were estimated by modeling OCS data from twins and siblings. Second, polygenic risk scores (PRS) for 6931 subjects with genotype and OCS data were calculated based on meta-analysis results from IOCDF-GC, to investigate their predictive value. Third, the contribution of measured single nucleotide polymorphisms (SNPs) to the heritability was estimated using random-effects modeling. Last, we performed an exploratory genome-wide association study (GWAS) of OCS, testing for SNP- and for gene-based associations. Stability in OCS (test-retest correlation 0.63) was mainly explained by genetic stability. The PRS based on clinical samples predicted OCS in our population-based twin-family sample. SNP-based heritability was estimated at 14%. GWAS revealed one SNP (rs8100480), located within the MEF2BNB gene, associated with OCS (P=2.56 × 10(-8)). Additional gene-based testing resulted in four significantly associated genes, which are located in the same chromosomal region on chromosome 19p13.11: MEF2BNB, RFXANK, MEF2BNB-MEF2B and MEF2B. Thus, common genetic variants explained a significant proportion of OCS trait variation. Genes significantly associated with OCS are expressed in the brain and involved in development and control of immune system functions (RFXANK) and regulation of gene expression of muscle-specific genes (MEF2BNB). MEF2BNB also showed a suggestive association with OCD in an independent case-control study, suggesting a role for this gene in the development of OCS. PMID:26859814

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

    PubMed Central

    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. PMID:18495636

  13. A comprehensive catalog of human KRAB-associated zinc finger genes: insights into the evolutionary history of a large family of transcriptional repressors.

    PubMed

    Huntley, Stuart; Baggott, Daniel M; Hamilton, Aaron T; Tran-Gyamfi, Mary; Yang, Shan; Kim, Joomyeong; Gordon, Laurie; Branscomb, Elbert; Stubbs, Lisa

    2006-05-01

    Krüppel-type zinc finger (ZNF) motifs are prevalent components of transcription factor proteins in all eukaryotes. KRAB-ZNF proteins, in which a potent repressor domain is attached to a tandem array of DNA-binding zinc-finger motifs, are specific to tetrapod vertebrates and represent the largest class of ZNF proteins in mammals. To define the full repertoire of human KRAB-ZNF proteins, we searched the genome sequence for key motifs and then constructed and manually curated gene models incorporating those sequences. The resulting gene catalog contains 423 KRAB-ZNF protein-coding loci, yielding alternative transcripts that altogether predict at least 742 structurally distinct proteins. Active rounds of segmental duplication, involving single genes or larger regions and including both tandem and distributed duplication events, have driven the expansion of this mammalian gene family. Comparisons between the human genes and ZNF loci mined from the draft mouse, dog, and chimpanzee genomes not only identified 103 KRAB-ZNF genes that are conserved in mammals but also highlighted a substantial level of lineage-specific change; at least 136 KRAB-ZNF coding genes are primate specific, including many recent duplicates. KRAB-ZNF genes are widely expressed and clustered genes are typically not coregulated, indicating that paralogs have evolved to fill roles in many different biological processes. To facilitate further study, we have developed a Web-based public resource with access to gene models, sequences, and other data, including visualization tools to provide genomic context and interaction with other public data sets.

  14. Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.

    PubMed Central

    Curtis, A; Richardson, R J; Boohene, J; Jackson, A; Nelson, R; Bhattacharya, S S

    1993-01-01

    The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investigated and shown to be homozygous for the mutation S549N (G-->A). Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene. Images PMID:7680378

  15. Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

    PubMed Central

    Li, Xuefu; Zhong, Bomeng; Han, Weitian; Zhao, Ning; Liu, Wei; Sui, Yu; Wang, Yawen; Lu, Yongping; Wang, Hong; Li, Jianxin; Jiang, Miao

    2015-01-01

    Distal arthrogryposes (DAs) are a group of disorders that mainly involve the distal parts of the limbs and at least ten different DAs have been described to date. DAs are mostly described as autosomal dominant disorders with variable expressivity and incomplete penetrance, but recently autosomal recessive pattern was reported in distal arthrogryposis type 5D. Mutations in the contractile genes are found in about 50% of all DA patients. Of these genes, mutations in the gene encoding myosin binding protein C slow MYBPC1 were recently identified in two families with distal arthrogryposis type 1B. Here, we described two large Chinese families with autosomal dominant distal arthrogryposis type 2(DA2) with incomplete penetrance and variable expressivity. Some unique overextension contractures of the lower limbs and some distinctive facial features were present in our DA2 pedigrees. We performed follow-up DNA sequencing after linkage mapping and first identified two novel MYBPC1 mutations (c.1075G>A [p.E359K] and c.956C>T [p.P319L]) responsible for these Chinese DA2 families of which one introduced by germline mosacism. Each mutation was found to cosegregate with the DA2 phenotype in each family but not in population controls. Both substitutions occur within C2 immunoglobulin domain, which together with C1 and the M motif constitute the binding site for the S2 subfragment of myosin. Our results expand the phenotypic spectrum of MYBPC1-related arthrogryposis multiplex congenita (AMC). We also proposed the possible molecular mechanisms that may underlie the pathogenesis of DA2 myopathy associated with these two substitutions in MYBPC1. PMID:25679999

  16. Stability and Change in Sustainability of Daily Routines and Social Networks in Families of Children with Profound Intellectual and Multiple Disabilities

    ERIC Educational Resources Information Center

    Wilder, Jenny; Granlund, Mats

    2015-01-01

    Background: Children with profound intellectual and multiple disabilities (PIMD) demand intense family accommodations from birth and onwards. This study used an exploratory and qualitative study design to investigate stability and change in sustainability of daily routines and social networks of Swedish families of children with PIMD. Materials…

  17. 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.)

    PubMed Central

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

    2015-01-01

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

  18. 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.).

    PubMed

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

    2015-01-01

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

  19. 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.).

    PubMed

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

    2015-01-01

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

  20. Family Privilege

    ERIC Educational Resources Information Center

    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…

  1. Family Literacy.

    ERIC Educational Resources Information Center

    Washington, Charles W., Ed.

    1996-01-01

    This newsletter theme issue focuses on the impact of learning disabilities within families, specifically families with low literacy skills. It explores the effectiveness of family literacy programs, examines the connection between the field of family literacy and learning disabilities (LD), and offers suggestions on how to work with students with…

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

    PubMed

    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.

  3. Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe

    SciTech Connect

    Grasso, M.; Perroni, L.; Dagna-Bricarelli, F.

    1996-08-09

    This report complements a series of clinical, cytogenetical, and psychological studies previously reported on a large Sardinian pedigree segregating for premutations and full mutations associated with the Martin-Bell syndrome (MBS). Using the StB12.3 probe, we report now the molecular classification of all of the critical members of the pedigree. These molecular findings are evaluated against the variable phenotypic manifestations of the disease in the course of a six-generation segregation of an MBS premutation allegedly present in a common female progenitor of 14 MBS male patients and 9 female MBS heterozygotes seen in the last two generations. The nature and stepwise progression of MBS-premutations toward the fully manifested Martin-Bell syndrome and the possibility of reverse mutational events toward the normal allele are discussed with respect to the application of the presently available diagnostic tools in genetic counseling. 12 refs., 1 fig.

  4. Asteroid families

    NASA Technical Reports Server (NTRS)

    Williams, James G.

    1991-01-01

    More than 100 asteroid families are presented in Williams. Several examples of cratering events are known including family numbers 150, 162, 169, and 189. These are recognizable as many small fragments adjacent to and to one side (in three dimensions) of a much larger cratered body. Family numbers 138 and 140 are adjacent in proper element space. In population they are an intermediate step between the long recognizable families and the more frequent less populated families. Family number 164 is the fifth most populous family in the belt. All members are faint and nothing is known of the physical properties.

  5. Market reforms in Swedish health care: normative reorientation and welfare state sustainability.

    PubMed

    Bergmark, Ake

    2008-06-01

    Although the impact of market reforms in Swedish health care stands out as not very far-reaching in an international comparison, it represents a route away from the features and basic values normally associated with the Swedish or Scandinavian model. Summarizing the development over the last decades, we may identify signs of sustainability as well as change. Popular support for public provision and a robust institutional structure make far-reaching alterations of existing structures less feasible, although most visible changes this far-incremental though they may be-represent a change in which the normative foundations of the Swedish model are challenged.

  6. Market reforms in Swedish health care: normative reorientation and welfare state sustainability.

    PubMed

    Bergmark, Ake

    2008-06-01

    Although the impact of market reforms in Swedish health care stands out as not very far-reaching in an international comparison, it represents a route away from the features and basic values normally associated with the Swedish or Scandinavian model. Summarizing the development over the last decades, we may identify signs of sustainability as well as change. Popular support for public provision and a robust institutional structure make far-reaching alterations of existing structures less feasible, although most visible changes this far-incremental though they may be-represent a change in which the normative foundations of the Swedish model are challenged. PMID:18567905

  7. KAMEDO--a Swedish Disaster Medicine Study organization.

    PubMed

    Kulling, P E; Lorin, H

    1999-01-01

    Kamedo is a Swedish Disaster Medicine study organization that sends observers to disaster areas anywhere in the world to study recent events, collect useful information, and identify problems relative to the practice of Disaster Medicine. The results of these investigations are published in the KAMEDO Reports, and the English versions will be published in Prehospital and Disaster Medicine. Three of the recent reports follow: 1) KAMEDO Report 69: Ebolus Virus Epidemic in Zaire, 1995; 2) KAMEDO Report 70: The German Rescue and Emergency Organizations: a) Industrial Chemical Fire, Memmingen, Germany 23 January 1997; b) Fire at the Düsseldorf Airport, 01 April 1996; and c) Bus Accident on the Autobahn in Rosenheim, Germany; and 3) Terrorist Attack with Sarin, 20 March 1995. In addition, a catalog listing all of the KAMEDO Reports available in English is provided.

  8. Eyewitness testimony: tracing the beliefs of Swedish legal professionals.

    PubMed

    Granhag, Pär Anders; Strömwall, Leif A; Hartwig, Maria

    2005-01-01

    This paper examines beliefs held by Swedish legal professionals about eyewitness testimony. In a survey including questions about 13 key issues of eyewitness testimony, three groups were investigated: police officers (n = 104), prosecutors (n = 158), and judges (n = 251). The response rate was 74%. Examples of findings are that the beliefs were in line with scientific findings concerning the weapon focus effect, but were not in line for simultaneous vs. sequential lineups. Between-group differences were found for seven items. Judges were much more sceptical than police officers about the reliability and completeness of children's testimonies. The groups seldom agreed about one answer alternative, and they reported not being up to date about scientific research on eyewitness testimony. The results suggest that some important research findings have reached those working on the field. However, they hold many wrongful beliefs about eyewitness testimony, beliefs that might compromise the accuracy of legal decisions. PMID:16170786

  9. Modeling past and future acidification of Swedish lakes.

    PubMed

    Moldan, Filip; Cosby, Bernard J; Wright, Richard F

    2013-09-01

    Decades of acid deposition have caused acidification of lakes in Sweden. Here we use data for 3000 lakes to run the acidification model MAGIC and estimate historical and future acidification. The results indicate that beginning in about 1920 a progressively larger number of lakes in Sweden fell into the category of "not naturally acidified" (∆pH > 0.4). The peak in acidification was reached about 1985; since then many lakes have recovered in response to lower levels of acid deposition. Further recovery from acidification will occur by the year 2030 given implementation of agreed legislation for emissions of sulphur (S) and nitrogen (N) in Europe. But the number of catchments with soils being depleted in base cations will increase slightly. MAGIC-reconstructed history of acidification of lakes in Sweden agrees well with information on fish populations. Future acidification of Swedish lakes can be influenced by climate change as well as changes in forest harvest practices. PMID:23288615

  10. Ergonomic initiatives for machine operators by the Swedish logging industry.

    PubMed

    Synwoldt, Uwe; Gellerstedt, Sten

    2003-03-01

    In 1994, the Swedish Work Environment Authority (SWEA) considered to regulate the amount of working hours in a logging machine in order to force an increased use of job rotation. Occupational neck and shoulder disorders had been threatening machine operators' health ever since the late 1970s. Representatives of the logging industry argued that detailed regulations would not solve the problem. SWEA agreed to shelve the matter for 2 years and industry promised to take necessary measures. In 1996, the Labour Inspectorate investigated the industry's ergonomic initiatives. They found that awareness in combating health problems had increased. However, there was a gap between awareness and the ability to carry out improvements. In 1999, SWEA decided not to regulate working hours but strongly recommended the work teams to use job rotation. A minor follow-up in the year 2000 found work teams with both high production and low health risk, but also more specialised teams.

  11. Development and validation of Swedish classical and modern sexism scales.

    PubMed

    Ekehammar, B; Akrami, N; Araya, T

    2000-12-01

    In two studies we develop and validate a Classical--overt or direct--and a Modern--covert or subtle--Sexism Scale concerning attitudes toward women, for a Swedish (Scandinavian) context. Further, we examine whether these two forms of prejudice are distinguishable. Confirmatory factor analyses showed that, although highly correlated, classical and modern sexism are distinguishable. The construct validations showed that men had higher means on modern and classical sexism scores than women, and that our scales were related to other constructs as expected. In a third study, we analyzed the knowledge and the content of cultural stereotypes about women. There were no differences in the knowledge of cultural stereotypes between men and women or between high- and low-sexist individuals. The findings are discussed in relation to previous international studies that examine people's modern and/or classical sexism.

  12. Modeling past and future acidification of Swedish lakes.

    PubMed

    Moldan, Filip; Cosby, Bernard J; Wright, Richard F

    2013-09-01

    Decades of acid deposition have caused acidification of lakes in Sweden. Here we use data for 3000 lakes to run the acidification model MAGIC and estimate historical and future acidification. The results indicate that beginning in about 1920 a progressively larger number of lakes in Sweden fell into the category of "not naturally acidified" (∆pH > 0.4). The peak in acidification was reached about 1985; since then many lakes have recovered in response to lower levels of acid deposition. Further recovery from acidification will occur by the year 2030 given implementation of agreed legislation for emissions of sulphur (S) and nitrogen (N) in Europe. But the number of catchments with soils being depleted in base cations will increase slightly. MAGIC-reconstructed history of acidification of lakes in Sweden agrees well with information on fish populations. Future acidification of Swedish lakes can be influenced by climate change as well as changes in forest harvest practices.

  13. Natural organic matter properties in Swedish agricultural streams

    NASA Astrophysics Data System (ADS)

    Bieroza, Magdalena; Kyllmar, Katarina; Bergström, Lars; Köhler, Stephan

    2016-04-01

    We have analysed natural organic matter (NOM) properties in 18 agricultural streams in Sweden covering a broad range of environmental (climate, soil type), land use and water quality (nutrient and concentrations, pH, alkalinity) characteristics. Stream water samples collected every two weeks within an ongoing Swedish Monitoring Programme for Agriculture have been analysed for total/dissolved organic carbon, absorbance and fluorescence spectroscopy. A number of quantitative and qualitative spectroscopic parameters was calculated to help to distinguish between terrestrially-derived, refractory organic material and autochthonous, labile material indicative of biogeochemical transformations of terrestrial NOM and recent biological production. The study provides insights into organic matter properties and carbon budgets in agricultural streams and improves understanding of how agricultural catchments transform natural and anthropogenic fluxes of organic matter and nutrients to signals observed in receiving waters.

  14. Retirement options under the Swedish national pension system.

    PubMed

    Packard, M D

    1982-11-01

    This article reviews the retirement options available to Swedes aged 60 to 64 under their national pension system. Summaries of the various options are followed by an analysis of the relative attractiveness of each option using hypothetical 60-year-old workers with varying characteristics. The proportion of 60- to 64-year-old Swedes selecting each option corresponds closely to the relative attractiveness orderings computed for these hypothetical workers. Sweden has a unique pension alternative called the partial pension program that allows workers aged 60-64 to reduce their hours of work to within prescribed limits and receive a pension equal to half the earnings they lost. The Swedish experience with this popular pension is described in some detail.

  15. Challenges in assessing biological recovery from acidification in Swedish lakes.

    PubMed

    Holmgren, Kerstin

    2014-01-01

    Since the 1980s, Swedish lakes have in general become less acidified. Assessment of biological recovery is, however, hampered by poor pre-acidification data, confounding effects of climate change, and few lakes with annual sampling of fish and other organisms. Only three critically acidified, but non-limed, lakes had two decades of fish monitoring. The lakes had not yet recovered to pre-industrial chemical targets. Fish had low species richness compared to other organism groups. Roach (Rutilus rutilus) and/or European perch (Perca fluviatilis) were the dominant fish species, and the acid-sensitive roach had been lost from one of the lakes. Calcium decreased, possibly approaching pre-acidification concentrations, but exceeded minimum levels needed to sustain some Daphnia species. High or increasing levels of total organic carbon, likely due to reduced acidification and climate change, might influence the biological communities in unexpected ways, for example, facilitating more frequent occurrence of the invasive algae Gonyostomum semen.

  16. Taking Advantage of the "Big Mo"—Momentum in Everyday English and Swedish and in Physics Teaching

    NASA Astrophysics Data System (ADS)

    Haglund, Jesper; Jeppsson, Fredrik; Ahrenberg, Lars

    2015-06-01

    Science education research suggests that our everyday intuitions of motion and interaction of physical objects fit well with how physicists use the term "momentum". Corpus linguistics provides an easily accessible approach to study language in different domains, including everyday language. Analysis of language samples from English text corpora reveals a trend of increasing metaphorical use of "momentum" in non-science domains, and through conceptual metaphor analysis, we show that the use of the word in everyday language, as opposed to for instance "force", is largely adequate from a physics point of view. In addition, "momentum" has recently been borrowed into Swedish as a metaphor in domains such as sports, politics and finance, with meanings similar to those in physics. As an implication for educational practice, we find support for the suggestion to introduce the term "momentum" to English-speaking pupils at an earlier age than what is typically done in the educational system today, thereby capitalising on their intuitions and experiences of everyday language. For Swedish-speaking pupils, and possibly also relevant to other languages, the parallel between "momentum" and the corresponding physics term in the students' mother tongue could be made explicit..

  17. On the Relationship Between Domain-Specific Creative Achievement and Sexual Orientation in Swedish Twins.

    PubMed

    Mosing, Miriam A; Verweij, Karin J H; Abé, Christoph; de Manzano, Örjan; Ullén, Fredrik

    2016-10-01

    Despite the commonly held belief that homosexual males and females are more creative compared to heterosexuals, empirical studies on homosexuality and its relationship to creativity have been sparse, often with questionable methodology and very small sample sizes, reporting mixed findings. No study till date has explored the associations described above in a large population-based and genetically informative sample. Here, we examined such potential associations between sexual orientation and creative achievement in several different domains (music, writing, dance, visual arts, science, invention, and theater) using a large cohort of 4494 Swedish twins (of which 7.5 % were not exclusively heterosexual). Data were analyzed for the sexes separately as well as pooled. Results showed significant associations between sexual orientation and two of the creative domains-theater and writing-with non-heterosexuals being more creative in these domains. In all other domains, no significant differences were found between the non-heterosexual and heterosexual groups. Findings from co-twin control analyses suggested that the significant associations may not be causal in nature (i.e., homosexual orientation leads to higher creativity) but due to shared liability. However, we lacked power to differentiate between shared genetic and shared environmental influences. Results and potential implications are discussed critically. PMID:26969321

  18. Evaluation of behavioral problems after prenatal dexamethasone treatment in Swedish adolescents at risk of CAH.

    PubMed

    Wallensteen, Lena; Zimmermann, Marius; Sandberg, Malin Thomsen; Gezelius, Anton; Nordenström, Anna; Hirvikoski, Tatja; Lajic, Svetlana

    2016-09-01

    Prenatal dexamethasone (DEX) treatment in congenital adrenal hyperplasia (CAH) is effective in reducing virilization in affected girls, but other lasting effects are largely unknown. Here, we explore potential side effects of the treatment that will eventually help to make risk benefit analyses of the treatment. Therefore, we investigated the long-term effects of such prenatal DEX treatment on behavioral problems and temperament in children aged 7-17years. Standardized parent-completed questionnaires were used to evaluate adaptive functioning, behavioral and emotional problems (using CBCL), social anxiety (SPAI-C-P), and temperament (EAS). Self-reports were used to assess the children's own perception of social anxiety (SASC-R). The study compared 34 DEX-treated children and adolescents who were treated during the first trimester of fetal life and do not have CAH with 66 untreated controls from the Swedish population. No statistically significant differences were found between groups, suggesting that healthy children who were treated with DEX during early fetal life seem to be well adjusted without major behavioral or emotional problems as assessed by their parents. Moreover, self-reported social anxiety was not increased in DEX-exposed children and adolescents. In fact, the control group scored higher on items assessing anxiety in new, social situations. Nevertheless, for some of these comparisons, non-significant moderate to large effect sizes were observed, implying that the null findings should be interpreted with caution and require studies on larger, internationally combined cohorts. PMID:27373757

  19. Muslim Families and Family Therapy.

    ERIC Educational Resources Information Center

    Daneshpour, Manijeh

    1998-01-01

    Examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The differences in value systems are the Muslim families' preferences for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Suggests that directions for change for Muslims need to…

  20. Cancer, Families, and Family Counselors.

    ERIC Educational Resources Information Center

    Duffy, Maureen; Gillig, Scott

    2003-01-01

    Examines the role of the family counselor in working with cancer patients and their families. Suggests ways in which the family counselor can work proactively with families in the area of cancer prevention and helping them cope more effectively with its impact on their lives. Uses a clinical case example to illustrate intervention with cancer…