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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. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

    PubMed

    Grigelioniene, Giedre; Geiberger, Stefan; Horemuzova, Eva; Moström, Eva; Jäntti, Nina; Neumeyer, Lo; Åström, Eva; Nordenskjöld, Magnus; Nordgren, Ann; Mäkitie, Outi

    2014-07-01

    Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) gene, encoding a Ca++-permeable, non-selective cation channel. The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long-term natural course remain inadequately characterized. The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals. The mutation has previously been detected in another family with autosomal dominant brachyolmia [Rock et al., 2008]. Review of hospital records and patient assessments indicated that clinical symptoms of brachyolmia became evident by school age with chronic pain in the spine and hips; radiographic changes were evident earlier. Growth was not affected during early childhood but deteriorated with age in some patients due to increasing spinal involvement. Affected individuals had a wide range of subjective symptoms with chronic pain in the extremities and the spine, and paresthesias. Our findings indicate that autosomal dominant brachyolmia may be associated with significant long-term morbidity, as seen in this family.

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

    PubMed

    Persson, Carina; Benzein, Eva; Årestedt, Kristofer

    2016-12-01

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

  4. Family nursing research for practice: the Swedish perspective.

    PubMed

    Saveman, Britt-Inger

    2010-02-01

    This article offers a synthesis of the significant developments and progress of family nursing in Sweden. A review was conducted to locate Swedish family nursing research produced over the past 10 years. CINAHL, Medline, and PubMed were the primary databases used to locate approximately 75 family nursing studies conducted in Sweden. The majority of the studies used descriptive methods with data collected from surveys and interviews involving nurses and family members either together or individually. Only a few of the studies examined family nursing interventions. This article also reports the results of a recent survey of Swedish nurses that examined how family nursing is used in practice. After 10 years of creating a strong foundation for family-focused nursing in Sweden, there is still a need for nurse researchers, educators, and administrators to collaborate in the implementation of family nursing to practice.

  5. 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…

  6. Family-centered developmentally supportive care: the Swedish example.

    PubMed

    Westrup, B

    2015-10-01

    The prematurely born infant is probably the most vulnerable patient in our hospitals due to the immaturity of all organ systems including the brain. Over recent years, the importance of neurodevelopmentally supportive care has been clarified. In addition, to provide the best possible treatment and environmental conditions for the vital functions of the infant to properly develop, we also must support the psychological processes of bonding and attachment between parents and their newborn infant, which is so crucial for long-term health and development. By integrating scientific findings from natural and behavioral science in multidisciplinary developmentally supportive intervention programs, recommendations for redesigning nurseries and integrating families have developed to meet these challenges. It not only is "baby- and family-friendly" but also has economic benefits and improves the long-term development of the child. The basis of family-centered developmentally supportive care interventions is the recognition that the newborn infant is a human being in his or her own right, and letting the caregivers be guided by the current needs of the individual infant and family. In this context, the Newborn Individualized Developmental Care and Assessment Program (NIDCAP) is unique since it is the only program designed to be implemented from the moment the infant is born. Different strategies can be used to support the nursing and medical teams to help the family become the primary caregivers of their own infants. Sweden has a long tradition of engaging parents in the actual care and of around-the-clock visiting hours. Nurseries have, or are remodeling to have, the facilities enabling parents to live in the units throughout the entire hospital stay. Skin-to-skin contact is widely implemented. In order to ensure that these strategies are in tune with the individual needs of the infant and the families, all major nurseries have trained NIDCAP professionals. Care and

  7. Detecting Large Copy Number Variants Using Exome Genotyping Arrays In a Large Swedish Schizophrenia Sample

    PubMed Central

    Szatkiewicz, Jin P.; Neale, Benjamin M.; O'Dushlaine, Colm; Fromer, Menachem; Goldstein, Jacqueline I.; Moran, Jennifer L.; Chambert, Kimberly; Kähler, Anna; Magnusson, Patrik KE; Hultman, Christina M.; Sklar, Pamela; Purcell, Shaun; McCarroll, Steven A.; Sullivan, Patrick F.

    2014-01-01

    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 9, 100 Swedish subjects (3, 962 cases with SCZ and 5, 138 controls) using both standard GWAS arrays and exome arrays. In comparison to CNVs detected using GWAS arrays, we observed high sensitivity and specificity for detecting genic CNVs ≥400 kb including known pathogentic 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

  8. The Swedish Family-Cancer Database 2009: prospects for histology-specific and immigrant studies.

    PubMed

    Hemminki, Kari; Ji, Jianguang; Brandt, Andreas; Mousavi, Seyed Mohsen; Sundquist, Jan

    2010-05-15

    The Swedish Family-Cancer Database comprises a total of 11.8 million individuals covering the Swedish population of the past 100 years. Version VIII of the Database is described in the present article. Cancer cases were retrieved from the Swedish Cancer Registry for the period 1958-2006, including more than 1 million first primary cancers. The number of familial cancers in offspring is 14,000 when a parent was diagnosed with a concordant (same) cancer and the number of concordant siblings was 6,000. From the year 1993 onwards histopathological data according to the SNOMED classification were used, which entails advantages for certain cancers, such as breast cancer. Even though the specific morphological classification only covers a limited number of years, it does cover most familial cancers in the offspring generation. The Database records the country of birth for each subject. A total of 1.79 million individuals were foreign born, Finns and other Scandinavians being the largest immigrant groups. The cancer incidence in the first-generation immigrants was compared to that in native Swedes using standardised incidence ratios (SIRs) to measure relative risk. The SIRs ranged widely between the immigrant groups, from 1.9-fold for myeloma to 25-fold for melanoma. The differences in SIRs were smaller in the second-generation immigrants. The usefulness and the possible applications of the Family-Cancer Database have increased with increasing numbers of cases, and the numerous applications have been described in some 300 publications. Familial cancer studies are in the stimulating interphase of the flourishing disciplines of genetics and epidemiology.

  9. Exclusion of linkage between the serotonin2 receptor and schizophrenia in a large Swedish kindred.

    PubMed

    Hallmayer, J; Kennedy, J L; Wetterberg, L; Sjögren, B; Kidd, K K; Cavalli-Sforza, L L

    1992-03-01

    Family, twin, and adoption studies suggest that genetic factors play an important role in the etiology of schizophrenia. Detection of single gene(s) involved in a higher susceptibility to a hereditary disease is possible with linkage analysis. The effects of serotonin2-receptor antagonists on symptoms of schizophrenia suggest that a mutation in the gene coding for this receptor subtype might be involved in the pathophysiology of this disease. Recently a copy DNA encoding the serotonin 5-HT2 receptor has been isolated and with a human 5-HT2 receptor copy DNA probe the HTR2 locus has been mapped to chromosome 13. Using multipoint linkage analysis between schizophrenia and genetic markers spanning the region of the HTR2 locus, we were able to exclude linkage between this candidate gene and schizophrenia in a Swedish kindred. Given this result, we conclude that the serotonin 5-HT2 receptor gene itself is not a major susceptibility gene for schizophrenia in this family.

  10. Reproductive health and reproductive freedom: maternal health care and family planning in the Swedish health system.

    PubMed

    Sundström-Feigenberg, K

    1988-01-01

    Health care for mothers and children has been a cornerstone of the Swedish system of health care for many years, starting in the 1930s, when a national network of maternal health centers offered a variety of free prenatal services. This paper describes modern maternal health services whose primary goal is preventive care. Instruments for attaining this goal are regular check-ups for early detection of problems and for maintenance of good health; social and psychological support to expectant parents; information and training to prepare parents for delivery and parenting; information and education about risk factors in the parents' local environment and in society in general. Details of how these programs were developed, delivered and evaluated are provided by the author, a former Senior Medical Officer at the National Board of Health and Welfare, responsible for maternal health care and family planning on a national level.

  11. 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.

  12. 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

  13. 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.

  14. Familial infantile cortical hyperostosis in a large Canadian family.

    PubMed Central

    Maclachlan, A. K.; Gerrard, J. W.; Houston, C. S.; Ives, E. J.

    1984-01-01

    Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity. Images Fig. 2 Fig. 3 PMID:6370402

  15. Environmental influences on familial resemblance for drug abuse in first-cousin pairs: a Swedish national study

    PubMed Central

    Kendler, K. S.; Ohlsson, H.; Sundquist, K.; Sundquist, J.

    2013-01-01

    Background Using three independent methods, prior studies in Swedish sibling pairs indicate that environmental factors contribute substantially to familial aggregation for drug abuse (DA). Could we replicate these results in cousin pairs? Method Using multiple Swedish public databases (1964–2011), we defined DA using medical, legal or pharmacy registry records and examined concordance in full cousin pairs as a function of age differences, younger–older relationships and geographical proximity while growing up. Results Replicating prior results in siblings, cousin pairs were significantly more similar in their history of DA if they were (i) closer versus more distant in age and (ii) grew up in high versus low geographical proximity to one another. Furthermore, controlling for background factors, having an older cousin with DA conveys a greater risk for DA than having a younger drug-abusing cousin. The greater transmission of DA from older to younger versus younger to older cousin was more prominent in pairs who grew up close to one another. In age difference and geographical proximity analyses, effects were consistently strongest in male–male cousin pairs. In analyses of older → younger versus younger → older transmission, effects were stronger in male–male and male–female than in female–female or female–male relative pairs. Conclusions In accord with prior results in siblings, environmental factors contribute substantially to the familial aggregation of DA in cousins and these effects are, in general, stronger in males than in females. PMID:23611305

  16. Reading problems and major mental disorders - co-occurrences and familial overlaps in a Swedish nationwide cohort.

    PubMed

    Cederlöf, Martin; Maughan, Barbara; Larsson, Henrik; D'Onofrio, Brian M; Plomin, Robert

    2017-03-21

    Reading problems often co-occur with ADHD and conduct disorder. However, the patterns of co-occurrence and familial overlap between reading problems and other psychiatric disorders have not been systematically explored. We conducted a register-based cohort study including 8719 individuals with reading problems and their siblings, along with matched comparison individuals. Conditional logistic regressions estimated risks for ADHD, autism, obsessive-compulsive disorder, anorexia nervosa, schizophrenia, bipolar disorder, depression, substance use disorder, and violent/non-violent criminality in individuals with reading problems and their siblings. Diagnoses of psychiatric disorders were physician-assigned and ascertained from the Swedish National Patient Register, and crime convictions from the Swedish National Crime Register. We found that individuals with reading problems had excess risks for all psychiatric disorders (except anorexia nervosa) and criminality, with risk ratios between 1.34 and 4.91. Siblings of individuals with reading problems showed excess risks for ADHD, autism, schizophrenia, bipolar disorder, depression, substance use disorder, and non-violent criminality, with risk ratios between 1.14 and 1.70. In summary, individuals with reading problems had increased risks of virtually all psychiatric disorders, and criminality. The origin of most of these overlaps was familial, in that siblings of individuals with reading problems also had elevated risks of ADHD, autism, schizophrenia, bipolar disorder, depression, substance use disorder, and non-violent criminality. These findings have implications for gene-searching efforts, and suggest that health care practitioners should be alert for signs of psychiatric disorders in families where reading problems exist.

  17. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa

    PubMed Central

    Abdulridha-Aboud, Wissam; Kjellström, Ulrika; Andréasson, Sten

    2016-01-01

    Purpose To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions These two families demonstrate the extreme inter- and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype. PMID:27212874

  18. 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…

  19. 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.

  20. 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.

  1. Child health care utilisation in families with young or single mothers in a Swedish county.

    PubMed

    Wallby, Thomas; Modin, Bitte; Hjern, Anders

    2013-03-01

    Young age and lone parenthood are risk factors for impaired health among mothers and their children. Due to the higher risks of negative influences on physical and mental health, young and single mothers should be of special concern to the Child Health Services (CHS). In the present study, we investigated consumption patterns of child health care services among young and single mothers in Uppsala County, Sweden to study whether they are reached by the universal CHS program and if selective or indicative measures were administered in daily CHS practice. Register data on CHS contacts and socio-demographic indicators were collected for 10692 infants, born in 1998-2006. Results show small differences in contact pattern and immunization status, between children of young versus older, and single versus cohabiting mothers. However, both young (RR 0.64) and single (RR 0.80) mothers had significantly lower rates of participation in parental group. The CHS were consequently successful in implementing the universal preventive child health programme for all families, including families with young or single mothers. There was no indication, however, of an established selective preventive strategy aimed at these high risk families. Programs for strengthening the support provided to vulnerable families by the CHS are needed.

  2. 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.…

  3. Rett syndrome from a family perspective: The Swedish Rett Center survey.

    PubMed

    Larsson, Gunilla; Lindström, Britta; Engerström, Ingegerd Witt

    2005-11-01

    The aim of this study was to make a description of the early development in individuals with the diagnosis Rett syndrome using parents' information. Information received from 125 cases of Rett syndrome in Sweden in 1997 provided us with families' description of early development in gross motor function, fine motor function and communication/social interplay. Best abilities before regression were presented, 62% lost their best abilities, 22% kept them and 5% kept them with deterioration. Seventy-three percent learnt to walk, 20% stopped walking and 2% retrained walking. Concerning feeding, 69% learnt to feed themselves, 57% lost this ability, 7% retrained the ability and 5% learnt to feed after regression. Sixty-four percent were one year or younger when there was a deviation in development. Sixty answers reported the girl was late in developing functions while 35 reported sudden loss of reached abilities. Seventy-four percent developed a scoliosis and 83% reported other deformities; of these, deformities in feet were the most common. Postural control was poor since all but 15 girls/women learnt in different directions when sitting. Transitional movements were difficult to perform. In 80% of cases, the families were those who suspected early that something was wrong in the child's development. Because of this it is essential that medical staff is aware of the different ways RS develops in order to give families early appropriate support and a plan for intervention. Since there is not only loss of function in this group but also kept abilities, retrained abilities and abilities achieved after regression, more research has to be focused on management and treatment to help persons with Rett syndrome keep and develop abilities according to their individual resources.

  4. Reproductive toxicity of seafood contaminants: Prospective comparisons of Swedish east and west coast fishermen's families

    PubMed Central

    Axmon, Anna; Rylander, Lars; Rignell-Hydbom, Anna

    2008-01-01

    Cohorts comprising fishermen's families on the east coast of Sweden have been found to have a high consumption of contaminated fish as well as high body burdens of persistent organochlorine pollutants (POPs). Their west coast correspondents are socio-economically similar, but with considerably lower POP exposure since the fish caught on the west coast is far less contaminated. The rationale for this was that the cohorts residing on the east coast of Sweden have been found to have a high consumption of contaminated fish as well as high body burdens of POPs, whereas their west coast correspondents are socio-economically similar, but with considerably lower POP exposure since the fish caught on the west coast is far less contaminated. Among the reproductive outcomes investigated are included both male and female parameters, as well as couple fertility and effects on the fetus. A range of exposure measures, including both questionnaire assessments of fish consumption and biomarkers, have been used. The most consistent findings of the studies are those related to the fetus, where a decreased birth weight was found across all measures of exposure, which is in agreement with studies from other populations. Some markers for male reproduction function, i.e. sperm motility, sperm chromatin integrity, and Y:X chromosome ratio, were associated with POP exposure, whereas others, such as sperm concentration and semen volume, were not. With respect to couple fertility and female reproductive parameters, no support was given for associations with POP exposure. Although some associations may have been affected by beneficial effects of essential nutrients in seafood, the overall findings are meaningful in the context of reproductive toxicity and support the usefulness of the epidemiological design. PMID:18507855

  5. 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…

  6. 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.

  7. Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.

    PubMed

    Wong, F K; Gustafsson, B

    2000-04-01

    The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.

  8. 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.

  9. Little Brother Joins the Large Family

    NASA Astrophysics Data System (ADS)

    2006-12-01

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

  10. Swedish Orienteers: A Survey Study.

    ERIC Educational Resources Information Center

    Ottosson, Torgny

    1995-01-01

    A survey questionnaire was sent to 1,200 members of Swedish orienteering clubs. Some common beliefs about orienteers were verified. Respondents identifying themselves as active orienteers were often well educated and in the upper middle class, had a healthy lifestyle, and tended to participate as families. (Author/TD)

  11. Long term mental health outcomes of Finnish children evacuated to Swedish families during the second world war and their non-evacuated siblings: cohort study

    PubMed Central

    Betancourt, Theresa S; Gilman, Stephen E

    2015-01-01

    Objectives To compare the risks of admission to hospital for any type of psychiatric disorder and for four specific psychiatric disorders among adults who as children were evacuated to Swedish foster families during the second world war and their non-evacuated siblings, and to evaluate whether these risks differ between the sexes. Design Cohort study. Setting National child evacuation scheme in Finland during the second world war. Participants Children born in Finland between 1933 and 1944 who were later included in a 10% sample of the 1950 Finnish census ascertained in 1997 (n=45 463; women: n=22 021; men: n=23 442). Evacuees in the sample were identified from war time government records. Main outcome measure Adults admitted to hospital for psychiatric disorders recorded between 1971 and 2011 in the Finnish hospital discharge register. Methods We used Cox proportional hazards models to estimate the association between evacuation to temporary foster care in Sweden during the second world war and admission to hospital for a psychiatric disorder between ages 38 and 78 years. Fixed effects methods were employed to control for all unobserved social and genetic characteristics shared among siblings. Results Among men and women combined, the risk of admission to hospital for a psychiatric disorder did not differ between Finnish adults evacuated to Swedish foster families and their non-evacuated siblings (hazard ratio 0.89, 95% confidence interval 0.64 to 1.26). Evidence suggested a lower risk of admission for any mental disorder (0.67, 0.44 to 1.03) among evacuated men, whereas for women there was no association between evacuation and the overall risk of admission for a psychiatric disorder (1.21, 0.80 to 1.83). When admissions for individual psychiatric disorders were analyzed, evacuated girls were significantly more likely than their non-evacuated sisters to be admitted to hospital for a mood disorder as an adult (2.19, 1.10 to 4.33). Conclusions The Finnish

  12. 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…

  13. Blueprints in Sweden. Symptom load in Swedish adolescents in studies of Functional Family Therapy (FFT), Multisystemic Therapy (MST) and Multidimensional Treatment Foster Care (MTFC).

    PubMed

    Gustle, Lars-Henry; Hansson, Kjell; Sundell, Knut; Lundh, Lars-Gunnar; Löfholm, Cecilia Andrée

    2007-01-01

    The purpose of the present study was to compare symptom load in youth groups treated with three Swedish Blueprint programmes - Functional Family Therapy (FFT), Multisystemic Therapy (MST) and Multidimensional Treatment Foster Care (MTFC) - to see if symptom load matches the intensity of the treatment model as expected. These youth groups were also compared with in- and outpatients from child and adolescent psychiatry, and a normal comparison group. In addition, we compared the symptom load of their mothers. Symptom load was measured by the Achenbach System of Empirically Based Assessment (ASEBA) in the adolescents, and by the Symptom Checklist 90 in their mothers. The results showed that youth in the MST and MTFC studies had a higher symptom load than in the FFT study, and the same pattern of results was found in their mothers. It is concluded that there seems to be a reasonable correspondence between the offered resources and the symptom load among youth and parents; treatment methods with higher intensity have been offered to youth with higher symptom load. The correlation between internalized and externalized symptoms was high in all study groups. The MST and MTFC groups had an equally high total symptom load as the psychiatric inpatient sample.

  14. 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.

  15. 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…

  16. 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

  17. 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

  18. Family History of Education Predicts Eating Disorders across Multiple Generations among 2 Million Swedish Males and Females

    PubMed Central

    Goodman, Anna; Heshmati, Amy; Koupil, Ilona

    2014-01-01

    Purpose To investigate which facets of parent and grandparent socio-economic position (SEP) are associated with eating disorders (ED), and how this varies by ED subtype and over time. Methods Total-population cohort study of 1,040,165 females and 1,098,188 males born 1973–1998 in Sweden, and followed for inpatient or outpatient ED diagnoses until 2010. Proportional hazards models estimated associations with parental education, income and social class, and with grandparental education and income. Results 15,747 females and 1051 males in our sample received an ED diagnosis, with rates increasing in both sexes over time. ED incidence in females was independently predicted by greater educational level among the father, mother and maternal grandparents, but parent social class and parental income showed little or no independent effect. The associations with education were equally strong for anorexia nervosa, bulimia nervosa and ED not-otherwise-specified, and had increased over time. Among males, an apparently similar pattern was seen with respect to anorexia nervosa, but non-anorexia ED showed no association with parental education and an inverse association with parental income. Conclusions Family history of education predicts ED in gender- and disorder-specific ways, and in females the effect is observed across multiple generations. Particularly given that these effects may have grown stronger in more recent cohorts, these findings highlight the need for further research to clarify the underlying mechanisms and identify promising targets for prevention. Speculatively, one such mechanism may involve greater internal and external demands for academic success in highly educated families. PMID:25162402

  19. 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

  20. Social capital in relation to depression, musculoskeletal pain, and psychosomatic symptoms: a cross-sectional study of a large population-based cohort of Swedish adolescents

    PubMed Central

    2010-01-01

    Background Social capital has lately received much attention in health research. The present study investigated whether two measures of subjective social capital were related to psychosomatic symptoms, musculoskeletal pain, and depression in a large population of Swedish adolescents. Methods A total of 7757 13-18 year old students anonymously completed the Survey of Adolescent Life in Vestmanland 2008 which included questions on sociodemographic background, neighbourhood social capital, general social trust, and ill health. Results Low neighbourhood social capital and low general social trust were associated with higher rates of psychosomatic symptoms, musculoskeletal pain, and depression. Individuals with low general social trust had more than three times increased odds of being depressed, three times increased odds of having many psychosomatic symptoms, and double the odds of having many symptoms of musculoskeletal pain. Conclusions The findings make an important contribution to the social capital - health debate by demonstrating relations between social capital factors and self-reported ill health in a young population. PMID:21092130

  1. 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

  2. Mortality among Swedish Journalists.

    ERIC Educational Resources Information Center

    Furhoff, Anna-Karin; Furhoff, Lars

    1987-01-01

    Charts the various environmental factors that might influence the mortality rate of Swedish journalists. Concludes that, although there may be a slightly higher death rate among Swedish journalists in the 50-59 age group, the death rate for journalists is the same as for the population in general. (MM)

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

    NASA Technical Reports Server (NTRS)

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

    1995-01-01

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

  4. 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…

  5. 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

  6. Large family of quantum weak coin-flipping protocols

    SciTech Connect

    Mochon, Carlos

    2005-08-15

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

  7. Sentence intonation in Swedish.

    PubMed

    Gårding, E

    1979-01-01

    In 'A Prosodic Typology for Swedish Dialects' (Nordic Prosody 1978), BRUCE and GARDING proposed a schema for generating fundamental frequency patterns of statements in four Swedish dialects. Dialectal variation was obtained by timing word accents and sentence accent differently in a common frame expressing statement intonation. In addition to presenting the method, this paper also shows how it can be applied to two different interrogative frames, one for yes/no questions with non-inverted word order and one for inverted order.

  8. 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…

  9. 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.

  10. Risk of Gastrointestinal Cancers among Patients with Appendectomy: A Large-Scale Swedish Register-Based Cohort Study during 1970-2009

    PubMed Central

    Song, Huan; Abnet, Christian C.; Andrén-Sandberg, Åke; Chaturvedi, Anil K.; Ye, Weimin

    2016-01-01

    Background Removal of the appendix might induce physiological changes in the gastrointestinal tract, and subsequently play a role in carcinogenesis. Therefore, we conducted a nationwide register-based cohort study in Sweden to investigate whether appendectomy is associated with altered risks of gastrointestinal cancers. Methods A population-based cohort study was conducted using the Swedish national registries, including 480,382 eligible patients followed during the period of 1970–2009 for the occurrence of site-specific gastrointestinal cancer (esophageal/gastric/colon/rectal cancer). Outcome and censoring information was collected by linkage to health and demography registers. We examined the incidence of appendectomy in Sweden using data from 1987–2009. We also calculated standardized incidence ratios (SIRs) with 95% confidence intervals (CIs) to estimate the relative gastrointestinal cancer risk through comparison to the general population. Results We noted an overall decrease in the age-standardized incidence of appendectomy among the entire Swedish population from 189.3 to 105.6 per 100,000 individuals between 1987 and 2009. Grouped by different discharge diagnosis, acute appendicitis, incidental appendectomy, and entirely negative appendectomy continuously decreased over the study period, while the perforation ratio (18%–23%) stayed relatively constant. Compared to the general population, no excess cancer risk was observed for gastrointestinal cancers under study with the exception of a marginally elevated risk for esophageal adenocarcinoma (SIR 1.32, 95% CI 1.09–1.58). Conclusions In Sweden, the incidence of appendectomy and acute appendicitis has decreased during 1987–2009. No excess gastrointestinal cancer risks were observed among these appendectomized patients, with the possible exception of esophageal adenocarcinoma. PMID:26959234

  11. 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.

  12. Predominant discourses in Swedish nursing.

    PubMed

    Dahlborg-Lyckhage, Elisabeth; Pilhammar-Anderson, Ewa

    2009-05-01

    The aim of this study was to elucidate the predominant discourse in the field of Swedish nursing in 2000, 25 years after nursing was introduced as an academic discipline in Sweden. The method used was content analysis and deconstructive analysis of discourses. Laws, statutes, regulations, and examination requirements, including official reports, recruitment campaigns, and media coverage, were analyzed. The findings uncovered competing discourses striving to gain hegemony. In the public sector, official requirements competed against the media fixation on gender stereotypes and the realities of local recruitment campaigns. Media has a major role in disseminating prevailing conceptions and conventions pertaining to the nursing profession. As a result, decision makers, students, patients, and family members could get lower expectations of the professional competence of nursing practitioners than would otherwise have been the case in the absence of media exposure.

  13. Fertility Related Attitudes of Minority Mothers with Large and Small Families.

    ERIC Educational Resources Information Center

    Linn, Margaret W.; And Others

    The relationship between certain attitudes and the levels of fertility in five cultural groups was explored in this study. The group studied were blacks, Cubans, American Indians, migrant Chicanos, and white Protestants. Mothers, aged 35-45, with one or two children (small family) or five children (large family) were compared. Attitudes measured…

  14. A large family of anti-activators accompanying XylS/AraC family regulatory proteins.

    PubMed

    Santiago, Araceli E; Yan, Michael B; Tran, Minh; Wright, Nathan; Luzader, Deborah H; Kendall, Melissa M; Ruiz-Perez, Fernando; Nataro, James P

    2016-07-01

    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.

  15. 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

  16. 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

  17. The Trp64Arg mutation of the beta3 adrenergic receptor gene has no effect on obesity phenotypes in the Québec Family Study and Swedish Obese Subjects cohorts.

    PubMed Central

    Gagnon, J; Mauriège, P; Roy, S; Sjöström, D; Chagnon, Y C; Dionne, F T; Oppert, J M; Pérusse, L; Sjöström, L; Bouchard, C

    1996-01-01

    The beta adrenergic system plays a key role in regulating energy balance through the stimulation of both thermogenesis and lipid mobilization in brown and white adipose tissues in human and various animal models. Recent studies have suggested that a missense Trp64Arg mutation in the beta3 adrenergic receptor (ADRB3) gene was involved in obesity and insulin resistance. We have investigated the effect of this mutation on obesity-related phenotypes in two cohorts: the Québec Family Study (QFS) and the Swedish Obese Subjects (SOS). In QFS, no association was found between this mutation and body mass index (BMI), body fat including abdominal visceral fat, resting metabolic rate, various diabetes and cardiovascular risk factors, and changes in body weight and body fat over a 12-yr period. With the exception of RMR (P = 0.04), no evidence of linkage was detected between the mutation and phenotypes of QFS based on sib-pair data. In SOS, the frequency of the Trp64Arg allele was not significantly different between nonobese and obese female subjects and no association was found between the mutation and body weight gain over time. These findings do not support the view that there is an association between the Trp64Arg mutation in the ADRB3 gene and obesity. PMID:8903328

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

    PubMed

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

    2010-12-01

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

  19. 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…

  20. Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

    PubMed Central

    Hiltunen, T; Kiuru, S; Hongell, V; Heliö, T; Palo, J; Peltonen, L

    1991-01-01

    Familial amyloidosis of Finnish type (FAF) is one of the familial amyloidotic polyneuropathy (FAP) syndromes, a group of inherited disorders characterized by extracellular accumulation of amyloid and by clinical symptoms and signs of polyneuropathy. FAF, an autosomal dominant trait, belongs to those rare monogenic disorders which occur with increased frequency in the Finnish population: only single FAF cases have been reported from other populations. In most types of FAP syndromes the accumulating protein is a transthyretin variant. However, recent evidence has suggested that the amyloid peptides in FAF are related to gelsolin, an actin modulating protein. The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin. In this study allele-specific oligonucleotides were used to analyze three large FAF families with multiple affected individuals as well as healthy family members. We found the corresponding G-A mutation in nucleotide 654 of the plasma gelsolin gene to cosegregate with the disease. The result was confirmed by sequencing and strongly suggests that the mutation has caused all the FAF cases of these families. Since the disease is clustered in restricted areas on the southern coast of Finland, this mutation most probably causes the majority, if not all, of FAF cases in Finland. Images Figure 2 PMID:1652889

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

    PubMed

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

    2011-08-01

    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.

  2. Greek immigrant children in southern Sweden in comparison with Greek and Swedish children. I. General living conditions.

    PubMed

    Neiderud, J

    1989-01-01

    Greek immigrant children belonging to the second generation of immigrants in Sweden have been compared with Swedish children and Greek children in Greece regarding general living conditions. Interviews were performed in the homes of all participants. The parents in the two Greek groups had the lowest educational level. The yearly salary of immigrant families was similar to that of the Swedish families. Immigrant and Swedish parents worked outside their homes to the same extent, Greek immigrant mothers fulltime, Swedish mothers mostly part time. For economical reasons the immigrant parents looked after their children within the family while the Swedish families almost always utilized community day care facilities. The immigrant families had fewer children than the Swedish and Greek rural families and their dwellings were smaller. Corporal punishment was a common method of upbringing in Greece and among the immigrants. The immigrant families had extremely few contacts with Swedish families. A majority of the immigrant families were unsure about their future in Sweden, whether or not to stay. In conclusion, the Greek immigrant group in many respects had adapted to Swedish customs but they had also at the same time retained much of the Greek cultural characteristics.

  3. Marfan syndrome in a large family: response of family members to a screening programme.

    PubMed

    Bridges, A B; Faed, M; Boxer, M; Gray, J R; Bundy, C; Murray, A

    1992-02-01

    Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome attended for both questionnaires. All patients claimed to be satisfied with the way they were informed of the results of screening; 41% of patients were more worried about their health and 48% were more worried about the future after diagnosis. Apart from 50% of the smokers reducing or stopping their intake of cigarettes there were only very minor changes in lifestyle over the first month despite the increased level of expressed anxiety. If a definitive screening test was available, 96% of patients claimed they would have chosen it, 45% felt it would have an influence on their future plans, and 78% would choose to use a method of prenatal diagnosis for Marfan syndrome if it were available.

  4. 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

  5. Biomarkers Associated with Clinical Phenotypes of Hand Osteoarthritis in a Large Multigenerational Family: the CARRIAGE Family Study

    PubMed Central

    Chen, Hsiang-Cheng; Shah, Svati; Stabler, Thomas V; Li, Yi-Ju; Kraus, Virginia Byers

    2012-01-01

    Objective To evaluate biological markers as potential quantitative traits of clinical osteoarthritis (OA) in a large multigenerational family in the Carolinas of the U.S. known as the CARRIAGE family. Methods During a series of three family reunions over 6 years, we ascertained 365 family members. We performed clinical hand examinations (n=287), and obtained sera (n=278) for seven OA-related biomarkers (PIIANP, CPII, C2C, COMP, HA, hs-CRP and glycated serum protein). Three hand OA definitions were evaluated - clinical ACR and GOGO criteria, and any single hand joint involvement. Non-hand OA was defined as a negative hand examination for OA but varying prevalence of joint symptoms; the control group was defined as having neither symptoms nor evidence for clinical hand OA. Results Mean ln HA, ln COMP, and ln hs-CRP were significantly higher in the hand OA group, compared with the non-hand OA or control group. Adjusted for age and sex, mean ln PIIANP (a collagen II synthesis marker) was significantly lower in the hand OA group compared with the other groups. Among those without clinical hand OA, Glycated serum protein was associated with hand joint symptoms. Conclusions This is the first report, to our knowledge, showing an association of OA biomarkers and hand OA based on physical examination alone. Analyses using these biomarkers as quantitative traits could reveal novel genetic loci and facilitate exploration of the genetic susceptibility to OA. PMID:18291686

  6. 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.

  7. 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

  8. 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.

  9. 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…

  10. 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

  11. Large genomic deletions inactivate the BRCA2 gene in breast cancer families

    PubMed Central

    Agata, S; Dalla, P; Callegaro, M; Scaini, M; Menin, C; Ghiotto, C; Nicoletto, O; Zavagno, G; Chieco-Bianchi, L; D'Andrea, E; Montagna, M

    2005-01-01

    Background: BRCA1 and BRCA2 are the two major genes responsible for the breast and ovarian cancers that cluster in families with a genetically determined predisposition. However, regardless of the mutation detection method employed, the percentage of families without identifiable alterations of these genes exceeds 50%, even when applying stringent criteria for family selection. A small but significant increase in mutation detection rate has resulted from the discovery of large genomic alterations in BRCA1. A few studies have addressed the question of whether BRCA2 might be inactivated by the same kinds of alteration, but most were either done on a relatively small number of samples or employed cumbersome mutation detection methods of variable sensitivity. Objective: To analyse 121 highly selected families using the recently available BRCA2 multiplex ligation dependent probe amplification (MLPA) technique. Results: Three different large genomic deletions were identified and confirmed by analysis of the mutant transcript and genomic characterisation of the breakpoints. Conclusions: Contrary to initial suggestions, the presence of BRCA2 genomic rearrangements is worth investigating in high risk breast or ovarian cancer families. PMID:16199546

  12. Structural, functional, and evolutionary analysis of the unusually large stilbene synthase gene family in grapevine.

    PubMed

    Parage, Claire; Tavares, Raquel; Réty, Stéphane; Baltenweck-Guyot, Raymonde; Poutaraud, Anne; Renault, Lauriane; Heintz, Dimitri; Lugan, Raphaël; Marais, Gabriel A B; Aubourg, Sébastien; Hugueney, Philippe

    2012-11-01

    Stilbenes are a small family of phenylpropanoids produced in a number of unrelated plant species, including grapevine (Vitis vinifera). In addition to their participation in defense mechanisms in plants, stilbenes, such as resveratrol, display important pharmacological properties and are postulated to be involved in the health benefits associated with a moderate consumption of red wine. Stilbene synthases (STSs), which catalyze the biosynthesis of the stilbene backbone, seem to have evolved from chalcone synthases (CHSs) several times independently in stilbene-producing plants. STS genes usually form small families of two to five closely related paralogs. By contrast, the sequence of grapevine reference genome (cv PN40024) has revealed an unusually large STS gene family. Here, we combine molecular evolution and structural and functional analyses to investigate further the high number of STS genes in grapevine. Our reannotation of the STS and CHS gene families yielded 48 STS genes, including at least 32 potentially functional ones. Functional characterization of nine genes representing most of the STS gene family diversity clearly indicated that these genes do encode for proteins with STS activity. Evolutionary analysis of the STS gene family revealed that both STS and CHS evolution are dominated by purifying selection, with no evidence for strong selection for new functions among STS genes. However, we found a few sites under different selection pressures in CHS and STS sequences, whose potential functional consequences are discussed using a structural model of a typical STS from grapevine that we developed.

  13. 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.

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

    PubMed Central

    2010-01-01

    Background Five DNA regions, namely, rbcL, matK, ITS, ITS2, and psbA-trnH, have been recommended as primary DNA barcodes for plants. Studies evaluating these regions for species identification in the large plant taxon, which includes a large number of closely related species, have rarely been reported. Results The feasibility of using the five proposed DNA regions was tested for discriminating plant species within Asteraceae, the largest family of flowering plants. Among these markers, ITS2 was the most useful in terms of universality, sequence variation, and identification capability in the Asteraceae family. The species discriminating power of ITS2 was also explored in a large pool of 3,490 Asteraceae sequences that represent 2,315 species belonging to 494 different genera. The result shows that ITS2 correctly identified 76.4% and 97.4% of plant samples at the species and genus levels, respectively. In addition, ITS2 displayed a variable ability to discriminate related species within different genera. Conclusions ITS2 is the best DNA barcode for the Asteraceae family. This approach significantly broadens the application of DNA barcoding to resolve classification problems in the family Asteraceae at the genera and species levels. PMID:20977734

  15. 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.

  16. The CHAP domain: a large family of amidases including GSP amidase and peptidoglycan hydrolases.

    PubMed

    Bateman, Alex; Rawlings, Neil D

    2003-05-01

    Cleavage of peptidoglycan plays an important role in bacterial cell division, cell growth and cell lysis. Here, we reveal that several known peptidoglycan amidases fall into a family, which includes many proteins of previously unknown function. The family includes two different peptidoglycan cleavage activities: L-muramoyl-L-alanine amidase and D-alanyl-glycyl endopeptidase activity. The family includes the amidase portion of the bifunctional glutathionylspermidine synthase/amidase enzyme from bacteria and pathogenic trypanosomes. The glutathionylspermidine synthase is thought to be a key component of the alternative pathway in trypanosomes for protection from oxygen-radical damage and has been proposed as a potential drug target. The CHAP (cysteine, histidine-dependent amidohydrolases/peptidases) domain is often found in association with other domains that cleave peptidoglycan. The large number of multifunctional hydrolases suggests that they might act in a cooperative manner to cleave specialized substrates.

  17. Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects

    PubMed Central

    Accordi, Elen Dias; Xekouki, Paraskevi; Azevedo, Bruna; de Alexandre, Rodrigo Bertollo; Frasson, Carla; Gantzel, Siliane Marie; Papadakis, Georgios Z.; Angelousi, Anna; Stratakis, Constantine A.; Sotomaior, Vanessa Santos; Faucz, Fabio R.

    2016-01-01

    Background Thyroid cancer is the most common endocrine gland malignancy. Advances in understanding the genetic basis for thyroid cancer revealed the potential involvement of several genes in the formation of thyroid tumors. Mutations in the gene coding for succinate dehydrogenase subtype B (SDHB) have been implicated in papillary thyroid cancer (PTC). Succinate dehydrogenase (SDH) is a heterotetrameric protein composed of four subunits, SDHA, SDHB, SDHC, and SDHD, and participates in both the electron transport chain and the tricarboxylic acid cycle. The aim of the study was to evaluate the association between variants in the SDHA, SDHB, SDHC, and SDHD genes and familiar PTC in a large Brazilian family. Method Four patients with PTC, 1 patient with PTC and gastrointestinal stromal tumor (GIST), 1 patient with GIST, and their relatives - several of them with different thyroid problems - from a large Brazilian family were screened for genetic variations of SDHx genes with the use of polymerase chain reaction-single-stranded conformational polymorphism and direct sequencing. Results Only one rare variation in SDHA was found in some of the family members, but not segregating with the disease. No other genetic variants of these genes were detected in the family members that presented with PTC and/or GIST. Conclusion Familiar PTC and a GIST were not associated with SDHx mutations; additional genetic defects, yet unknown, may be responsible for the development of tumor. PMID:27493882

  18. 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

  19. 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

    2016-01-22

    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.

  20. 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.

  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. Protocol Design for Large-Scale Cross-Sectional Studies of Sexual Abuse and Associated Factors in Individual Sports: Feasibility Study in Swedish Athletics

    PubMed Central

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

    2015-01-01

    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

  3. 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.

  4. Genome-scale phylogenetic function annotation of large and diverse protein families.

    PubMed

    Engelhardt, Barbara E; Jordan, Michael I; Srouji, John R; Brenner, Steven E

    2011-11-01

    The Statistical Inference of Function Through Evolutionary Relationships (SIFTER) framework uses a statistical graphical model that applies phylogenetic principles to automate precise protein function prediction. Here we present a revised approach (SIFTER version 2.0) that enables annotations on a genomic scale. SIFTER 2.0 produces equivalently precise predictions compared to the earlier version on a carefully studied family and on a collection of 100 protein families. We have added an approximation method to SIFTER 2.0 and show a 500-fold improvement in speed with minimal impact on prediction results in the functionally diverse sulfotransferase protein family. On the Nudix protein family, previously inaccessible to the SIFTER framework because of the 66 possible molecular functions, SIFTER achieved 47.4% accuracy on experimental data (where BLAST achieved 34.0%). Finally, we used SIFTER to annotate all of the Schizosaccharomyces pombe proteins with experimental functional characterizations, based on annotations from proteins in 46 fungal genomes. SIFTER precisely predicted molecular function for 45.5% of the characterized proteins in this genome, as compared with four current function prediction methods that precisely predicted function for 62.6%, 30.6%, 6.0%, and 5.7% of these proteins. We use both precision-recall curves and ROC analyses to compare these genome-scale predictions across the different methods and to assess performance on different types of applications. SIFTER 2.0 is capable of predicting protein molecular function for large and functionally diverse protein families using an approximate statistical model, enabling phylogenetics-based protein function prediction for genome-wide analyses. The code for SIFTER and protein family data are available at http://sifter.berkeley.edu.

  5. 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...

  6. 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.

  7. Electron counting and a large family of two-dimensional semiconductors

    NASA Astrophysics Data System (ADS)

    Miao, Maosheng; Botana, Jorge; Zurek, Eva; Liu, Jingyao; Yang, Wen

    Two-dimensional semiconductors (2DSC) are currently the focus of many studies, thanks to their novel and superior transport properties that may greatly influence future electronic devices. The potential applications of 2DSCs range from low-dimensional electronics, topological insulators and vallytronics all the way to novel photolysis. However, compared with the conventional semiconductors that are comprised of main group elements and cover a large range of band gaps and lattice constants, the choice of 2D materials is very limited. In this work, we propose and demonstrate a large family of 2DSCs, all adopting the same structure and consisting of only main group elements. Using advanced density functional calculations, we demonstrate the attainability of these materials, and show that they cover a large range of lattice constants, band gaps and band edge states, making them good candidate materials for heterojunctions. This family of two dimensional materials may be instrumental in the fabrication of 2DSC devices that may rival the currently employed 3D semiconductors.

  8. Religious support, motives for having large families, and psychological functioning among religious Jewish mothers.

    PubMed

    Bjorck, Jeffery P; Lazar, Aryeh

    2011-03-01

    The effects of religious support, maternal motivations for having large families, and their interactions on psychological functioning were assessed in a sample of 79 religious Israeli Jewish mothers of six or more children. Religious support from religious leaders, community, and G-d--as well as faith-focused maternal motivation--were all positively related to adaptive psychological functioning. In contrast, self-focused maternal motivation was negatively related to adaptive functioning. Moreover, religious support and maternal motivation were both related to psychological functioning even after controlling for social support. Finally, several significant interactions between religious support and maternal motivation emerged and are also discussed.

  9. 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

  10. QuickProbs 2: Towards rapid construction of high-quality alignments of large protein families

    PubMed Central

    Gudyś, Adam; Deorowicz, Sebastian

    2017-01-01

    The ever-increasing size of sequence databases caused by the development of high throughput sequencing, poses to multiple alignment algorithms one of the greatest challenges yet. As we show, well-established techniques employed for increasing alignment quality, i.e., refinement and consistency, are ineffective when large protein families are investigated. We present QuickProbs 2, an algorithm for multiple sequence alignment. Based on probabilistic models, equipped with novel column-oriented refinement and selective consistency, it offers outstanding accuracy. When analysing hundreds of sequences, Quick-Probs 2 is noticeably better than ClustalΩ and MAFFT, the previous leaders for processing numerous protein families. In the case of smaller sets, for which consistency-based methods are the best performing, QuickProbs 2 is also superior to the competitors. Due to low computational requirements of selective consistency and utilization of massively parallel architectures, presented algorithm has similar execution times to ClustalΩ, and is orders of magnitude faster than full consistency approaches, like MSAProbs or PicXAA. All these make QuickProbs 2 an excellent tool for aligning families ranging from few, to hundreds of proteins. PMID:28139687

  11. 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.…

  12. Swedish Theatre in the United States.

    ERIC Educational Resources Information Center

    Harvey, Anne-Charlotte Hanes

    The Swedish ethnic theatre in the United States flourished and provided a vigorous cultural expression among Swedish immigrants for over five decades beginning in San Francisco in 1863. Swedes in Chicago alone produced between 9 and 24 plays per season from 1888 to 1915. All over the United States, Swedish settlements had their own Swedish…

  13. Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

    PubMed

    Sobrido, M J; Fernández, J M; Fontoira, E; Pérez-Sousa, C; Cabello, A; Castro, M; Teijeira, S; Alvarez, S; Mederer, S; Rivas, E; Seijo-Martínez, M; Navarro, C

    2005-07-01

    Congenital fibre type disproportion (CFTD) is considered a non-progressive or slowly progressive muscle disease with relative smallness of type 1 fibres on pathological examination. Although generally benign, CFTD has a variable natural course and severe progression has been observed in some patients. The pathogenesis of the disorder is unknown and many authors consider CFTD a syndrome with multiple aetiologies rather than a separate clinical entity. A positive family history has been reported in about 40% of cases, but the inheritance pattern is not clear. Both autosomal recessive and dominant modes of inheritance have been suggested. The present paper describes a large, multigenerational kindred that has an inherited myopathy fulfilling the histological criteria of CFTD, with autosomal dominant transmission and high penetrance. The clinical picture, remarkably similar in all affected family members, started in early infancy with mild limb muscle weakness. There was slow progression of symptoms into adulthood, with moderate to severe, mainly proximal, muscle weakness without loss of ambulation. Muscle biopsy from two affected individuals demonstrated predominance of small type 1 muscle fibres without other significant findings. Nerve conduction studies were normal and needle electromyography showed a myopathic pattern. MRI examination performed on three patients from successive generations showed involvement of proximal limb and paraspinal muscles. The clinical and pathological homogeneity in the present family, together with the lack of additional histological abnormalities after decades of disease progression in two affected individuals, supports this being a distinct myopathy with fibre type disproportion. Whether the disease in this family can be regarded as a form of the congenital myopathy known as CFTD or rather a unique condition sharing histological features with CFTD needs further investigation. This is, to our knowledge, the largest kindred with muscle

  14. Clinical presentation and mutation analysis of VHL disease in a large Chinese family.

    PubMed

    Zhang, Qing; Li, De-Ling; Kang, Peng; Ji, Nan; Yang, Jun; Liu, Wei-Ming; Zhang, Li-Wei; Jia, Gui-Jun

    2015-11-01

    Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited neoplastic disorder characterized by marked phenotypic variability and age-dependent penetrance. This disease is caused by germline mutations in the VHL tumor suppressor gene. Systematic physical examinations, imaging assessments and molecular genetic tests for the VHL gene were performed in a large Chinese VHL family. The examined Chinese VHL family, which has 25 members from four generations, including 7 diagnosed VHL patients and 2 asymptomatic mutation carriers. The average ages of first onset for generations I, II, and III were 37, 30 and 16, respectively. The male:female ratio among VHL patients was 6:1. Molecular genetic investigations detected the c.433C>T [p.Q145X] nonsense mutation in the VHL gene. Molecular modeling of the VHL-ElonginC- ElonginB-HIF-1α complex predicted that the p.Q145X mutation markedly alters the L7 loop structure of the β-domain of the VHL protein (pVHL), destabilizes the VHL-HIF-1αcomplex, and induces the truncation of pVHL. We speculate that the p.Q145X nonsense mutation leads to relatively obvious familial aggregation. This mutation causes the type I phenotype of VHL disease and is associated with a high risk of retinal and central nervous system (CNS) hemangioblastomas (HGBs) and visceral cysts, but a low risk of renal cell carcinoma. Moreover, within a VHL family, the average ages of first onset became younger in successive generations, and the CNS HGBs are more likely to occur in male patients.

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

    PubMed Central

    2012-01-01

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

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

    PubMed

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

    2009-01-01

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

  17. 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…

  18. 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

  19. Two distinct SSB protein families in nucleo-cytoplasmic large DNA viruses

    PubMed Central

    Venclovas, Česlovas

    2012-01-01

    Motivation: Eukaryote-infecting nucleo-cytoplasmic large DNA viruses (NCLDVs) feature some of the largest genomes in the viral world. These viruses typically do not strongly depend on the host DNA replication systems. In line with this observation, a number of essential DNA replication proteins, such as DNA polymerases, primases, helicases and ligases, have been identified in the NCLDVs. One other ubiquitous component of DNA replisomes is the single-stranded DNA-binding (SSB) protein. Intriguingly, no NCLDV homologs of canonical OB-fold-containing SSB proteins had previously been detected. Only in poxviruses, one of seven NCLDV families, I3 was identified as the SSB protein. However, whether I3 is related to any known protein structure has not yet been established. Results: Here, we addressed the case of ‘missing’ canonical SSB proteins in the NCLDVs and also probed evolutionary origins of the I3 family. Using advanced computational methods, in four NCLDV families, we detected homologs of the bacteriophage T7 SSB protein (gp2.5). We found the properties of these homologs to be consistent with the SSB function. Moreover, we implicated specific residues in single-stranded DNA binding. At the same time, we found no evolutionary link between the T7 gp2.5-like NCLDV SSB homologs and the poxviral SSB protein (I3). Instead, we identified a distant relationship between I3 and small protein B (SmpB), a bacterial RNA-binding protein. Thus, apparently, the NCLDVs have the two major distinct sets of SSB proteins having bacteriophage and bacterial origins, respectively. Contact: venclovas@ibt.lt Supplementary information: Supplementary data are available at Bioinformatics online. PMID:23097418

  20. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

    PubMed Central

    Hamel, B. C.; Smits, A. P.; de Graaff, E.; Smeets, D. F.; Schoute, F.; Eussen, B. H.; Knight, S. J.; Davies, K. E.; Assman-Hulsmans, C. F.; Oostra, B. A.

    1994-01-01

    During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected. Images Figure 2 Figure 3 Figure 4 PMID:7977354

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

    PubMed Central

    Karn, Robert C.; Laukaitis, Christina M.

    2015-01-01

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

  2. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data

    SciTech Connect

    Hamel, B.C.J.; Smits, A.P.T.; Smeets, F.C.M.; Schoute, F.; Assman-Hulsmans, C.F.C.H.; Graaff, E. de; Eussen, B.H.J.; Oostra, B.A.; Knight, S.J.L.

    1994-11-01

    During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected. 41 refs., 4 figs., 5 tabs.

  3. Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family.

    PubMed

    Pérez de Nanclares, G; Castaño, L; Martul, P; Rica, I; Vela, A; Sanjurjo, P; Aldamiz-Echevarría, K; Martínez, R; Sarrionandia, M J

    2001-03-01

    Hereditary hyperferritinemia-cataract syndrome is a genetic condition characterized by constitutively increased serum ferritin values in the absence of iron overload and by bilateral cataract. It has been demonstrated that mutations in the stem loop structure of the iron regulatory element (IRE) located in the 5'-untranslated region of the ferritin L-subunit gene (19q13.1) are responsible for the anomalous expression of this protein. Although not clearly explained, cataract formation seems secondary to the increased levels of ferritin in the lens. We analyzed a large Basque family in order to identify possible germline alterations of the iron regulatory element of the ferritin-L gene in affected individuals and first-degree relatives. All members of the family presented hyperferritinemia and cataract except a young child who had hyperferritinemia but did not present cataract. Sequence analysis permitted the identification of an A40-->G mutation in all members, including this child. This could demonstrate that cataract formation is a consequence of ferritin accumulation in the lens.

  4. 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.

  5. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

    PubMed Central

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K.; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R.; Merkenschlager, Andreas; Syrbe, Steffen

    2016-01-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy. PMID:27781029

  6. Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

    PubMed

    Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R; Merkenschlager, Andreas; Syrbe, Steffen

    2016-09-01

    Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals. This variant results in a substitution of the highly conserved amino acid valine localized within the pore-forming transmembrane segment S5 (p.V279F). Functional investigations in Xenopus laevis oocytes revealed a loss of function, which supports p.V279F as a pathogenic mutation. When p.V279F was coexpressed with the wild-type (WT) Kv7.2 subunits, the resulting potassium currents were about 10-fold reduced compared to the WT Kv7.3 and Kv7.2 coexpression. Genotype-phenotype correlation shows an incomplete penetrance of p.V279F. Response to antiepileptic treatment was variable, but evaluation of treatment response remained challenging due to the self-limiting character of the disease. The identification of the pathogenic variant helped to avoid unnecessary investigations in affected family members and allowed guided therapy.

  7. A Study of Breast Feeding Practices Among Families of Armed Forces Personnel in a Large Cantonment.

    PubMed

    Singh, Pmp; Bhalwar, R

    2002-10-01

    A cross sectional epidemiological study design was undertaken on a randomly selected sample of 175 families of Armed Forces personnel staying in a large cantonment and having at least one child in the age group 3 to 24 months. The mean duration of lactational amenorrhoea was found to be 6.24 months (SD ± 3.25 months) and that of breast feeding was found to be 11.14 months (SD ± 6.37 month). The present study observed positive association between the duration of exclusive breast feeding and the duration of lactational amenorrhoea, as well as between the lack of practice of exclusive breast feeding and number of spells of upper respiratory tract infection and acute gastroenteritis. Based on the findings of the study, certain measures to promote the practice of exclusive breast feeding for the first 4-6 months of life have been suggested.

  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. 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

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

    PubMed Central

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

    2017-01-01

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

  11. A century of mortality in five large families with polycystic kidney disease.

    PubMed

    Florijn, K W; Noteboom, W M; van Saase, J L; Chang, P C; Breuning, M H; Vandenbroucke, J P

    1995-03-01

    Autosomal dominant polycystic kidney disease (ADPKD) characteristically leads to end-stage renal failure in the fifth or sixth decade of life, which in the absence of therapeutic measures will lead to premature death. To determine excess mortality relative to the general population and chromosome 16-linked ADPKD patients, we studied 348 individuals who belonged to five large ADPKD families and who had at least a 50% probability of carrying the gene; the study data derive from a time span of approximately one century. Assessment of the diagnosis of ADPKD in the present generation was based on the characteristic roentgenographic appearance of polycystic kidneys and was confirmed by DNA analysis with flanking polymorphic markers around the polycystic gene. In the previous generation, we used Mendelian reasoning after pedigree analysis to identify persons with a 50% or 100% probability of carrying the polycystic gene. During the study period (1889 to 1992), 83 deaths occurred in 10,279 person-years. Mortality was increased 1.6-fold (95% confidence interval, 1.3 to 2.0) relative to the general population and was independent of the gender of the affected family member as well as the gender of the transmitting parent. The increased mortality was strongest in the 50 to 59 year age group (relative mortality, 3.2; 95% confidence interval, 2.0 to 4.8), but decreased after the 1970s, probably as a result of improvements in supportive care and, eventually, renal replacement therapy. In conclusion, the total life-span in ADPKD patients is improving, but remains low in comparison to the general population, and the gender of the transmitting parent or of the affected individual does not influence relative mortality.

  12. The Oregon Model of Behavior Family Therapy: From Intervention Design to Promoting Large-Scale System Change

    PubMed Central

    Dishion, Thomas; Forgatch, Marion; Chamberlain, Patricia; Pelham, William E.

    2017-01-01

    This paper reviews the evolution of the Oregon model of family behavior therapy over the past four decades. Inspired by basic research on family interaction and innovation in behavior change theory, a set of intervention strategies were developed that were effective for reducing multiple forms of problem behavior in children (e.g., Patterson, Chamberlain, & Reid, 1982). Over the ensuing decades, the behavior family therapy principles were applied and adapted to promote children’s adjustment to address family formation and adaptation (Family Check-Up model), family disruption and maladaptation (Parent Management Training–Oregon model), and family attenuation and dissolution (Treatment Foster Care–Oregon model). We provide a brief overview of each intervention model and summarize randomized trials of intervention effectiveness. We review evidence on the viability of effective implementation, as well as barriers and solutions to adopting these evidence-based practices. We conclude by proposing an integrated family support system for the three models applied to the goal of reducing the prevalence of severe problem behavior, addiction, and mental problems for children and families, as well as reducing the need for costly and largely ineffective residential placements. PMID:27993335

  13. The Swedish Knee Arthroplasty Register

    PubMed Central

    Robertsson, O.; Ranstam, J.; Sundberg, M.; W-Dahl, A.; Lidgren, L.

    2014-01-01

    We are entering a new era with governmental bodies taking an increasingly guiding role, gaining control of registries, demanding direct access with release of open public information for quality comparisons between hospitals. This review is written by physicians and scientists who have worked with the Swedish Knee Arthroplasty Register (SKAR) periodically since it began. It reviews the history of the register and describes the methods used and lessons learned. Cite this article: Bone Joint Res 2014;3:217–22. PMID:24986492

  14. 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.

  15. Emergence of Switch-Like Behavior in a Large Family of Simple Biochemical Networks

    PubMed Central

    Siegal-Gaskins, Dan; Mejia-Guerra, Maria Katherine; Smith, Gregory D.; Grotewold, Erich

    2011-01-01

    Bistability plays a central role in the gene regulatory networks (GRNs) controlling many essential biological functions, including cellular differentiation and cell cycle control. However, establishing the network topologies that can exhibit bistability remains a challenge, in part due to the exceedingly large variety of GRNs that exist for even a small number of components. We begin to address this problem by employing chemical reaction network theory in a comprehensive in silico survey to determine the capacity for bistability of more than 40,000 simple networks that can be formed by two transcription factor-coding genes and their associated proteins (assuming only the most elementary biochemical processes). We find that there exist reaction rate constants leading to bistability in ∼90% of these GRN models, including several circuits that do not contain any of the TF cooperativity commonly associated with bistable systems, and the majority of which could only be identified as bistable through an original subnetwork-based analysis. A topological sorting of the two-gene family of networks based on the presence or absence of biochemical reactions reveals eleven minimal bistable networks (i.e., bistable networks that do not contain within them a smaller bistable subnetwork). The large number of previously unknown bistable network topologies suggests that the capacity for switch-like behavior in GRNs arises with relative ease and is not easily lost through network evolution. To highlight the relevance of the systematic application of CRNT to bistable network identification in real biological systems, we integrated publicly available protein-protein interaction, protein-DNA interaction, and gene expression data from Saccharomyces cerevisiae, and identified several GRNs predicted to behave in a bistable fashion. PMID:21589886

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

    PubMed

    Siegal-Gaskins, Dan; Mejia-Guerra, Maria Katherine; Smith, Gregory D; Grotewold, Erich

    2011-05-01

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

  17. 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.

  18. 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.

  19. 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

  20. 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

  1. The Working Family.

    ERIC Educational Resources Information Center

    Boethius, Monica

    1984-01-01

    The working family is today by far the most common family type in Sweden. However, just over 50 percent of the children of working parents have access to day care. Because Swedish income tax policy is based on the concept that all adults will support themselves and does not take into account the number of persons supported on an income, one parent…

  2. 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.

  3. 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.

  4. What characterizes early adolescents with a positive body image? A qualitative investigation of Swedish girls and boys.

    PubMed

    Frisén, Ann; Holmqvist, Kristina

    2010-06-01

    The aim of the present study was to investigate positive body image during adolescence. Semi-structured interviews, centring on three body image domains (satisfaction with own appearance, views on exercise, and influence from family and friends) were conducted with 30 early adolescent Swedish girls and boys who at age 10 and 13 had shown the highest level of body satisfaction in a large longitudinal sample. The data were analyzed thematically. Results revealed that the adolescents' satisfaction with their own appearance was characterized by a functional view of the body and an acceptance of the bodily imperfections that they perceived that they had. The vast majority of the adolescents were physically active and found exercise joyful and health-promoting. Finally, although some of the adolescents had received negative comments about their appearance from family and friends, such comments were not given any importance.

  5. Swedish snus and the GothiaTek® standard

    PubMed Central

    2011-01-01

    Some smokeless tobacco products, such as Swedish snus, are today considered to be associated with substantially fewer health hazards than cigarettes. This risk differential has contributed to the scientific debate about the possibilities of harm reduction within the tobacco area. Although current manufacturing methods for snus build on those that were introduced more than a century ago, the low levels of unwanted substances in modern Swedish snus are largely due to improvements in production techniques and selection of raw materials in combination with several programs for quality assurance and quality control. These measures have been successively introduced during the past 30-40 years. In the late 1990s they formed the basis for a voluntary quality standard for Swedish snus named GothiaTek®. In recent years the standard has been accepted by the members of the trade organization European Smokeless Tobacco Council (ESTOC) so it has now evolved into an industrial standard for all smokeless tobacco products in Europe. The initial impetus for the mentioned changes of the production was quality problems related to microbial activity and formation of ammonia and nitrite in the finished products. Other contributing factors were that snus came under the jurisdiction of the Swedish Food Act in 1971, and concerns that emerged in the 1960s and 1970s about health effects of tobacco, and the significance of agrochemical residues and other potential toxicants in food stuffs. This paper summarizes the historical development of the manufacture of Swedish snus, describes the chemical composition of modern snus, and gives the background and rationale for the GothiaTek® standard, including the selection of constituents for which the standard sets limits. The paper also discusses the potential future of this voluntary standard in relation to current discussions about tobacco harm reduction and regulatory science in tobacco control. PMID:21575206

  6. Swedish snus and the GothiaTek® standard.

    PubMed

    Rutqvist, Lars E; Curvall, Margareta; Hassler, Thord; Ringberger, Tommy; Wahlberg, Inger

    2011-05-16

    Some smokeless tobacco products, such as Swedish snus, are today considered to be associated with substantially fewer health hazards than cigarettes. This risk differential has contributed to the scientific debate about the possibilities of harm reduction within the tobacco area. Although current manufacturing methods for snus build on those that were introduced more than a century ago, the low levels of unwanted substances in modern Swedish snus are largely due to improvements in production techniques and selection of raw materials in combination with several programs for quality assurance and quality control. These measures have been successively introduced during the past 30-40 years. In the late 1990s they formed the basis for a voluntary quality standard for Swedish snus named GothiaTek®. In recent years the standard has been accepted by the members of the trade organization European Smokeless Tobacco Council (ESTOC) so it has now evolved into an industrial standard for all smokeless tobacco products in Europe.The initial impetus for the mentioned changes of the production was quality problems related to microbial activity and formation of ammonia and nitrite in the finished products. Other contributing factors were that snus came under the jurisdiction of the Swedish Food Act in 1971, and concerns that emerged in the 1960s and 1970s about health effects of tobacco, and the significance of agrochemical residues and other potential toxicants in food stuffs.This paper summarizes the historical development of the manufacture of Swedish snus, describes the chemical composition of modern snus, and gives the background and rationale for the GothiaTek® standard, including the selection of constituents for which the standard sets limits. The paper also discusses the potential future of this voluntary standard in relation to current discussions about tobacco harm reduction and regulatory science in tobacco control.

  7. Atrial fibrillation anticoagulation care in a large urban family medicine practice

    PubMed Central

    Valentinis, Alissia; Ivers, Noah; Bhatia, Sacha; Meshkat, Nazanin; Leblanc, Kori; Ha, Andrew; Morra, Dante

    2014-01-01

    Abstract Objective To determine the proportion of patients with atrial fibrillation (AF) in primary care achieving guideline-concordant stroke prevention treatment based on both the previous (2010) and the updated (2012) Canadian guideline recommendations. Design Retrospective chart review. Participants Primary care patients (N = 204) with AF. The mean age was 71.3 years and 53.4% were women. Setting Large urban community family practice in Toronto, Ont. Main outcome measures Patient demographic characteristics such as sex and age; a list of current cardiac medications including anticoagulants and antiplatelets; the total number of medications; relevant current and past medical history including presence of diabetes, stroke or transient ischemic attack, hypertension, and vascular disease; number of visits to the family physician and cardiologist in the past year and past 5 years, and how many of these were for AF; the number of visits to the emergency department or hospitalizations for AF, congestive heart failure, or stroke; if patients were taking warfarin, how often their international normalized ratios were recorded, and how many times they were in the reference range; CHADS2 (congestive heart failure, hypertension, age ≥ 75, diabetes mellitus, and stroke or transient ischemic attack) score, if recorded; and reason for not taking oral anticoagulants when they should have been, if recorded. Results Among those who had CHADS2 scores of 0, 64 patients (97.0%) were receiving appropriate stroke prevention in AF (SPAF) treatment according to the 2010 guidelines. When the 2012 guidelines were applied, 39 patients (59.1%) were receiving appropriate SPAF treatment (P < .001). For those with CHADS2 scores of 1, 88.4% of patients had appropriate SPAF treatment according to the 2010 guidelines, but only 55.1% were adequately treated according to the 2012 guidelines (P < .001). Of the patients at the highest risk (CHADS2 score > 1), 68.1% were adequately treated with

  8. 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

  9. 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.

  10. 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…

  11. 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)

  12. 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…

  13. Reconstruction of oomycete genome evolution identifies differences in evolutionary trajectories leading to present-day large gene families.

    PubMed

    Seidl, Michael F; Van den Ackerveken, Guido; Govers, Francine; Snel, Berend

    2012-01-01

    The taxonomic class of oomycetes contains numerous pathogens of plants and animals but is related to nonpathogenic diatoms and brown algae. Oomycetes have flexible genomes comprising large gene families that play roles in pathogenicity. The evolutionary processes that shaped the gene content have not yet been studied by applying systematic tree reconciliation of the phylome of these species. We analyzed evolutionary dynamics of ten Stramenopiles. Gene gains, duplications, and losses were inferred by tree reconciliation of 18,459 gene trees constituting the phylome with a highly supported species phylogeny. We reconstructed a strikingly large last common ancestor of the Stramenopiles that contained ~10,000 genes. Throughout evolution, the genomes of pathogenic oomycetes have constantly gained and lost genes, though gene gains through duplications outnumber the losses. The branch leading to the plant pathogenic Phytophthora genus was identified as a major transition point characterized by increased frequency of duplication events that has likely driven the speciation within this genus. Large gene families encoding different classes of enzymes associated with pathogenicity such as glycoside hydrolases are formed by complex and distinct patterns of duplications and losses leading to their expansion in extant oomycetes. This study unveils the large-scale evolutionary dynamics that shaped the genomes of pathogenic oomycetes. By the application of phylogenetic based analyses methods, it provides additional insights that shed light on the complex history of oomycete genome evolution and the emergence of large gene families characteristic for this important class of pathogens.

  14. Tumor mapping in two large multigeneration families with CYLD mutations: Implications for patient management and tumor induction

    PubMed Central

    Rajan, N; Langtry, J A A; Ashworth, A; Roberts, C; Chapman, P; Burn, J; Trainer, A H

    2010-01-01

    Objective To comprehensively ascertain the extent and severity of clinical features in multiple affected individuals from two large families with proven heterozygous mutations in the CYLD locus and to correlate these findings with the three appendageal tumor predisposition syndromes, familial cylindromatosis (FC), Brooke-Spiegler syndrome (BSS), and multiple familial trichoepitheliomas (MFT) known to be associated with such germline mutations. Design Inter- and intra-familial observational study. Setting Tertiary genetic and dermatology referral centre. Participants 32 individuals were recruited from two large multigenerational families with CYLD mutations. Clinical details, history and tumor maps were obtained from all participants whilst 18 were further corroborated with detailed clinical examination. Main outcome measures Severity of tumor density, distribution and histology, associated medical conditions, patient symptoms and impact of disease on quality of life. Results We demonstrate a wide variation in clinical presentation seen in individuals from the same family. In addition, we provide clinical evidence that correlates with hormonally stimulated hair follicles being particularly vulnerable to loss of heterozygosity and tumor induction. Conclusion In view of our findings, we propose that the burden of disease at sites other than the head and neck is underreported in the literature, but impacts greatly on quality of life. The differentiation between the clinical diagnoses has little prognostic or clinical utility in genetic counselling even within individuals from the same family. Thus, we suggest an encompassing diagnosis of “CYLD cutaneous syndrome”. Finally, our results relating to the clinical distribution of tumors suggest hormonal factors may play an important role in tumor induction in these patients. PMID:19917957

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

    PubMed

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

    2008-01-01

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

  16. Structural, Functional, and Evolutionary Analysis of the Unusually Large Stilbene Synthase Gene Family in Grapevine1[W

    PubMed Central

    Parage, Claire; Tavares, Raquel; Réty, Stéphane; Baltenweck-Guyot, Raymonde; Poutaraud, Anne; Renault, Lauriane; Heintz, Dimitri; Lugan, Raphaël; Marais, Gabriel A.B.; Aubourg, Sébastien; Hugueney, Philippe

    2012-01-01

    Stilbenes are a small family of phenylpropanoids produced in a number of unrelated plant species, including grapevine (Vitis vinifera). In addition to their participation in defense mechanisms in plants, stilbenes, such as resveratrol, display important pharmacological properties and are postulated to be involved in the health benefits associated with a moderate consumption of red wine. Stilbene synthases (STSs), which catalyze the biosynthesis of the stilbene backbone, seem to have evolved from chalcone synthases (CHSs) several times independently in stilbene-producing plants. STS genes usually form small families of two to five closely related paralogs. By contrast, the sequence of grapevine reference genome (cv PN40024) has revealed an unusually large STS gene family. Here, we combine molecular evolution and structural and functional analyses to investigate further the high number of STS genes in grapevine. Our reannotation of the STS and CHS gene families yielded 48 STS genes, including at least 32 potentially functional ones. Functional characterization of nine genes representing most of the STS gene family diversity clearly indicated that these genes do encode for proteins with STS activity. Evolutionary analysis of the STS gene family revealed that both STS and CHS evolution are dominated by purifying selection, with no evidence for strong selection for new functions among STS genes. However, we found a few sites under different selection pressures in CHS and STS sequences, whose potential functional consequences are discussed using a structural model of a typical STS from grapevine that we developed. PMID:22961129

  17. 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

  18. 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

  19. Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract

    PubMed Central

    Messina-Baas, Olga; Gonzalez-Garay, Manuel L.; González-Huerta, Luz M.; Toral-López, Jaime; Cuevas-Covarrubias, Sergio A.

    2016-01-01

    Congenital cataract, an important cause of reversible blindness, is due to several causes including Mendelian inheritance. Thirty percent of cataracts are hereditary with participation of the gamma crystallin genes. Clinical and genetic heterogeneity is observed in patients with gene mutations and congenital cataract; about 40 genetic loci have been associated with hereditary cataract. In this study, we identified the underlying genetic cause of an autosomal dominant pulverulent cataract (ADPC) in a large Mexican family. Twenty-one affected patients and 20 healthy members of a family with ADPC were included. Genomic DNA was analyzed by whole exome sequencing in the proband, a normal daughter, and in an affected son, whereas DNA Sanger sequencing was performed in all members of the family. After the bioinformatics analysis, all samples were genotyped using Sanger sequencing to eliminate variants that do not cosegregate with the cataract. We observed a perfect cosegregation of a nonsense mutation c.475C>T (p.Q155*) in exon 6 of the CRYBB2 gene with ADPC. We calculated a logarithm of the odds score of 5.5. This mutation was not detected in healthy members of the family and in 100 normal controls. This is the first Mexican family with ADPC associated with a p.Q155* mutation. Interestingly, this specific mutation in the CRYBB2 gene seems to be exclusively associated with pulverulent/cerulean cataract (with some clinical variability) independent of the population's genetic background. PMID:27385965

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

    PubMed

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

    1999-01-01

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

  1. The J-domain proteins of Arabidopsis thaliana: an unexpectedly large and diverse family of chaperones.

    PubMed

    Miernyk, J A

    2001-07-01

    A total of 89 J-domain proteins were identified in the genome of the model flowering plant Arabidopsis thaliana. The deduced amino acid sequences of the J-domain proteins were analyzed for an assortment of structural features and motifs. Based on the results of sequence comparisons and structure and function predictions, 51 distinct families were identified. The families ranged in size from 1 to 6 members. Subcellular localizations of the A thaliana J-domain proteins were predicted; species were found in both the soluble and membrane compartments of all cellular organelles. Based on digital Northern analysis, the J-domain proteins could be separated into groups of low, medium, and moderate expression levels. This genomics-based analysis of the A thaliana J-domain proteins establishes a framework for detailed studies of biological function and specificity. It additionally provides a comprehensive basis for evolutionary comparisons.

  2. Lifestyle, family history, and risk of idiopathic Parkinson disease: a large Danish case-control study.

    PubMed

    Kenborg, Line; Lassen, Christina F; Ritz, Beate; Andersen, Klaus K; Christensen, Jane; Schernhammer, Eva S; Hansen, Johnni; Wermuth, Lene; Rod, Naja H; Olsen, Jørgen H

    2015-05-15

    The relationship between Parkinson disease (PD) and smoking has been examined in several studies, but little is known about smoking in conjunction with other behaviors and a family history of PD. Using unconditional logistic regression analysis, we studied individual and joint associations of these factors with idiopathic PD among 1,808 Danish patients who were diagnosed in 1996-2009 and matched to 1,876 randomly selected population controls. Although there was a downward trend in duration of smoking, this was not observed for daily tobacco consumption. A moderate intake of caffeine (3.1-5 cups/day) was associated with a lower odds ratio for PD (0.45, 95% confidence interval: 0.34, 0.62), as was a moderate intake of alcohol (3.1-7 units/week) (odds ratio = 0.60, 95% confidence interval: 0.58, 0.84); a higher daily intake did not reduce the odds further. When these behaviors were studied in combination with smoking, the odds ratios were lower than those for each one alone. Compared with never smokers with no family history of PD, never smokers who did have a family history had an odds ratio of 2.81 (95% confidence interval: 1.91, 4.13); for smokers with a family history, the odds ratio was 1.60 (95% confidence interval: 1.15, 2.23). In conclusion, duration of smoking seems to be more important than intensity in the relationship between smoking and idiopathic PD. The finding of lower risk estimates for smoking in combination with caffeine or alcohol requires further confirmation.

  3. 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.

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

    PubMed Central

    Cornman, R Scott; Togawa, Toru; Dunn, W Augustine; He, Ningjia; Emmons, Aaron C; Willis, Judith H

    2008-01-01

    Background The most abundant family of insect cuticular proteins, the CPR family, is recognized by the R&R Consensus, a domain of about 64 amino acids that binds to chitin and is present throughout arthropods. Several species have now been shown to have more than 100 CPR genes, inviting speculation as to the functional importance of this large number and diversity. Results We have identified 156 genes in Anopheles gambiae that code for putative cuticular proteins in this CPR family, over 1% of the total number of predicted genes in this species. Annotation was verified using several criteria including identification of TATA boxes, INRs, and DPEs plus support from proteomic and gene expression analyses. Two previously recognized CPR classes, RR-1 and RR-2, form separate, well-supported clades with the exception of a small set of genes with long branches whose relationships are poorly resolved. Several of these outliers have clear orthologs in other species. Although both clades are under purifying selection, the RR-1 variant of the R&R Consensus is evolving at twice the rate of the RR-2 variant and is structurally more labile. In contrast, the regions flanking the R&R Consensus have diversified in amino-acid composition to a much greater extent in RR-2 genes compared with RR-1 genes. Many genes are found in compact tandem arrays that may include similar or dissimilar genes but always include just one of the two classes. Tandem arrays of RR-2 genes frequently contain subsets of genes coding for highly similar proteins (sequence clusters). Properties of the proteins indicated that each cluster may serve a distinct function in the cuticle. Conclusion The complete annotation of this large gene family provides insight on the mechanisms of gene family evolution and clues about the need for so many CPR genes. These data also should assist annotation of other Anopheles genes. PMID:18205929

  5. Combining family- and population-based imputation data for association analysis of rare and common variants in large pedigrees.

    PubMed

    Saad, Mohamad; Wijsman, Ellen M

    2014-11-01

    In the last two decades, complex traits have become the main focus of genetic studies. The hypothesis that both rare and common variants are associated with complex traits is increasingly being discussed. Family-based association studies using relatively large pedigrees are suitable for both rare and common variant identification. Because of the high cost of sequencing technologies, imputation methods are important for increasing the amount of information at low cost. A recent family-based imputation method, Genotype Imputation Given Inheritance (GIGI), is able to handle large pedigrees and accurately impute rare variants, but does less well for common variants where population-based methods perform better. Here, we propose a flexible approach to combine imputation data from both family- and population-based methods. We also extend the Sequence Kernel Association Test for Rare and Common variants (SKAT-RC), originally proposed for data from unrelated subjects, to family data in order to make use of such imputed data. We call this extension "famSKAT-RC." We compare the performance of famSKAT-RC and several other existing burden and kernel association tests. In simulated pedigree sequence data, our results show an increase of imputation accuracy from use of our combining approach. Also, they show an increase of power of the association tests with this approach over the use of either family- or population-based imputation methods alone, in the context of rare and common variants. Moreover, our results show better performance of famSKAT-RC compared to the other considered tests, in most scenarios investigated here.

  6. A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration

    PubMed Central

    Zheng, Hong; Liu, Xiaoqi; Yang, Jiyun; Shi, Yi; Lin, Ying; Gong, Bo; Zhu, Xianjun; Ma, Shi; Qiao, Lifeng; Lin, He; Cheng, Jing; Yang, Zhenglin

    2013-01-01

    Purpose This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. Methods A genome scan analysis was conducted in this family for disease gene preliminary mapping. Snapshot analysis of selected SNPs for two-point LOD score analysis for candidate gene filter. Candidate gene PRPF31 whole exons' sequencing was executed to identify mutations. Results A novel nonsense mutation caused by an insertion was found in PRPF31 gene. All the 19 RP patients in 1085 family are carrying this heterozygous nonsense mutation. The nonsense mutation is in PRPF31 gene exon9 at chr19:54629961-54629961, inserting nucleotide “A” that generates the coding protein frame shift from p.307 and early termination at p.322 in the snoRNA binding domain (NOP domain). Conclusion This report is the first to associate PRPF31 gene's nonsense mutation and adRP and JMD. Our findings revealed that PRPF31 can lead to different clinical phenotypes in the same family, resulting either in adRP or syndrome of adRP and JMD. We believe our identification of the novel “A” insertion mutation in exon9 at chr19:54629961-54629961 in PRPF31 can provide further genetic evidence for clinical test for adRP and JMD. PMID:24244300

  7. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

    PubMed

    Jiang, Miao; Zhao, Xiuli; Han, Weitian; Bian, Chaoying; Li, Xuefu; Wang, Ge; Ao, Yang; Li, Yunqing; Yi, Dongxu; Zhe, Yang; Lo, Wilson H Y; Zhang, Xue; Li, Jianxin

    2006-09-01

    Distal arthrogryposis (DA) is composed of a group of clinically and genetically heterogeneous disorders, characterized by multiple congenital contractures of the limbs. Point mutations in three genes encoding contractile fast-twitch myofibers, TPM2, TNNI2 and TNNT3, were recently identified in DA type 1 (DA1; MIM 108120) and DA type 2B (DA2B; MIM 601680). We have described a large Chinese DA family in which different individuals had phenotypes similar to DA1 or DA2B. To map the disease locus in this family, two-point linkage analysis was first performed using microsatellite markers selected from the genomic regions close to the TPM2, TNNI2/TNNT3 and TNNC2 genes. A positive LOD score of 3.61 at theta = 0 was obtained with the marker close to the TNNI2/TNNT3 genes, corresponding to the genetic mapping site of DA2B. Direct sequencing of the PCR-amplified DNA fragment spanning exon 8 of the TNNI2 gene showed a heterozygous deletion, c.523_525delAAG (p.K175del), in the proband. This novel mutation was confirmed to cosegregate with the DA phenotype in affected individuals but not detected in all unaffected individuals of the family and not in 50 healthy controls. In summary, we have found a novel TNNI2 mutation in a Chinese family with DA2B. Our work represents the first report on the link between TNNI2 and the DA phenotype in Chinese.

  8. Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

    PubMed

    Al-Owain, Mohammed; Al-Dosari, Mohammed S; Sunker, Asma; Shuaib, Taghreed; Alkuraya, Fowzan S

    2012-12-15

    Brittle cornea syndrome (BCS) is a genetically heterogeneous disorder characterized by extreme corneal fragility and thinning, which may lead to spontaneous or trauma-induced corneal rupture. BCS-1 and BCS-2 are caused by recessive mutations in ZNF469 and PRDM5, respectively. Both genes play a role in the regulatory pathway of corneal development and maintenance. We report a consanguineous family with five patients affected with the cardinal ocular features of BCS and significant musculoskeletal findings primarily in the form of joint hypermobility and severe kyphoscoliosis. The patients had thin velvety skin, hallux valgus, variable sensorineural hearing loss and arachnodactyly. Interestingly, one of the patients additionally had phenylketonuria and showed a milder ophthalmological and musculoskeletal phenotype than his affected siblings. The urinary pyridinoline and deoxypyridinoline concentrations and their ratios were mildly elevated indicating increased bone-collagen turnover. A novel homozygous 14 bp duplication in exon 2 of ZNF469 (c.8817_8830dup) was uncovered by direct sequencing. This family highlights the phenotypic overlap between BCS and Ehlers-Danlos syndrome.

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

    PubMed Central

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

    2013-01-01

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

  10. Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

    PubMed Central

    Verhagen, Judith M.A.; de Leeuw, Nicole; Papatsonis, Dimitri N.M.; Grijseels, Els W.M.; de Krijger, Ronald R.; Wessels, Marja W.

    2015-01-01

    Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate intellectual disability, psychiatric and behavioral problems, congenital heart malformations, and craniofacial abnormalities. A subset of individuals is clinically unaffected. We describe a unique 3-generation family with a large recurrent 1q21.1 microduplication (BP2-BP4). Our observations underline the incomplete penetrance and phenotypic variability of this rearrangement. We also confirm the association with congenital heart malformations, chronic depression, and anxiety. Furthermore, we report a broader range of dysmorphic features. The extreme phenotypic heterogeneity observed in this family suggests that additional factors modify the clinical phenotype. PMID:26279651

  11. 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.

  12. A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.

    PubMed

    AlBakheet, AlBandary; Qari, Aliya; Colak, Dilek; Rasheed, Anas; Kaya, Namik; Al-Sayed, Moeenaldeen

    2013-09-10

    Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder reported among Ashkenazi Jews and to a lesser extent in other ethnic groups. Several mutations have been reported in MCOLN1 which is the only known gene associated with the disorder. Here we report the first Saudi patient with Mucolipidosis type IV from a consanguineous family with two branches having a total of five patients carrying a novel transition mutation, c.1307A>G (p.Y436C) in exon 11. The clinical course of the patient was nonspecific and a lysosomal storage disorder was not highly suspected due to lack of coarse facial features, organomegaly and skeletal findings of dysostosis multiplex. The detailed bioinformatics analysis on the deleterious effects of the mutation is discussed. Emphasis is made on the importance of brain magnetic resonance imaging (MRI) findings and serum gastrin level as key clues to the diagnosis of this often subtle neurodevelopmental disorder.

  13. Large distribution and high sequence identity of a Copia-type retrotransposon in angiosperm families.

    PubMed

    Dias, Elaine Silva; Hatt, Clémence; Hamon, Serge; Hamon, Perla; Rigoreau, Michel; Crouzillat, Dominique; Carareto, Claudia Marcia Aparecida; de Kochko, Alexandre; Guyot, Romain

    2015-09-01

    Retrotransposons are the main component of plant genomes. Recent studies have revealed the complexity of their evolutionary dynamics. Here, we have identified Copia25 in Coffea canephora, a new plant retrotransposon belonging to the Ty1-Copia superfamily. In the Coffea genomes analyzed, Copia25 is present in relatively low copy numbers and transcribed. Similarity sequence searches and PCR analyses show that this retrotransposon with LTRs (Long Terminal Repeats) is widely distributed among the Rubiaceae family and that it is also present in other distantly related species belonging to Asterids, Rosids and monocots. A particular situation is the high sequence identity found between the Copia25 sequences of Musa, a monocot, and Ixora, a dicot species (Rubiaceae). Our results reveal the complexity of the evolutionary dynamics of the ancient element Copia25 in angiosperm, involving several processes including sequence conservation, rapid turnover, stochastic losses and horizontal transfer.

  14. 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.

  15. Swedish students' attitudes toward abortion.

    PubMed

    Lindell, M E; Olsson, H M

    1993-01-01

    The Swedish abortion legislation of 1975 gave women the right to make a decision about abortion before the end of the 18th week of pregnancy. The number of abortions is rising in Sweden as a chosen method of birth control. The attitudes of students toward abortion were studied in 1986-1987. A questionnaire containing items on how sex education is taught, the anatomy and physiology of reproduction, contraceptives, sexually transmitted diseases, and legal abortion was answered by 421 high school students. Results pertaining to the students' attitudes toward abortion are reported. Two thirds of the students believed that the decision about an abortion should be made by the man and woman together. Nearly all respondents believed that abortion should not be considered a method of birth control. These results may be considered a guide for interventions to prevent the need for abortion. One fourth of all pregnancies in Sweden terminate in abortion. The students in the present study thought of abortion as a solution. Authors studying samples with different cultural backgrounds have reported similar attitudes.

  16. 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.

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

    PubMed Central

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

    2014-01-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2009-02-01

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

  19. 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.

  20. 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.

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

    PubMed Central

    Shashi, V.; Golden, W. L.; Allinson, P. S.; Blanton, S. H.; von Kap-Herr, C.; Kelly, T. E.

    1996-01-01

    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. Images Figure 2 Figure 5 Figure 6 Figure 7 PMID:8651300

  2. Migration and atopic disorder in Swedish conscripts.

    PubMed

    Hjern, A; Rasmussen, F; Johansson, M; Aberg, N

    1999-08-01

    We have studied asthma and allergic rhinitis prevalence in Swedish conscripts born 1973-1977 according to the military service conscription register in relation to the socio-economic status and country of birth of the conscripts and their parents, and age when granted residency in Sweden. There was an increase in prevalence of asthma and allergic rhinitis over time in all groups irrespective of country of birth or ethnic origin. Conscripts who themselves were born in Africa, Asia, Latin America and the Mediterranean had a significantly lower risk for asthma and allergic rhinitis than Swedish-born conscripts. The risk of atopic disorder among the foreign-born conscripts increased with time of residency in Sweden. Conscripts with mothers from Latin America, Asia and Africa were identified as having the highest risk for atopic disorder among Swedish-born conscripts with high socio-economic status; the adjusted risk ratio (RR) for asthma was 2.6 (95% CI 1.7-4.0) and that for allergic rhinitis was 2.0 (1.5-2.6). The conscripts with mothers from the Mediterranean had the lowest risk for atopic disorders of the Swedish-born conscripts with low socio-economic status; the RR for asthma was 0.43 (0.34-0.56) and that for allergic rhinitis was 0.84 (0.76-0.93). This study demonstrates that factors related to migration and ethnicity are important determinants of atopic disorder among Swedish conscripts.

  3. 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

  4. 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.

  5. 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.

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

    PubMed Central

    2011-01-01

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

  7. 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.

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

    PubMed

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

    2013-01-01

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

  9. 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…

  10. 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…

  11. 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…

  12. WISC-III Index Score Profiles of 520 Swedish Children with Pervasive Developmental Disorders

    ERIC Educational Resources Information Center

    Zander, Eric; Dahlgren, Sven Olof

    2010-01-01

    WISC-III (Wechsler, 1991) index score profiles and their characteristics were examined with traditional statistics in a large Swedish sample consisting of children with autistic disorder (n = 85), Asperger's disorder (n = 341), or pervasive developmental disorders not otherwise specified (PDD-NOS; n = 94). There was a clear and significant…

  13. 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

  14. p300 family members associate with the carboxyl terminus of simian virus 40 large tumor antigen.

    PubMed Central

    Lill, N L; Tevethia, M J; Eckner, R; Livingston, D M; Modjtahedi, N

    1997-01-01

    Several cellular polypeptides critical for growth regulation interact with DNA tumor virus oncoproteins. p400 is a cellular protein which binds to the adenovirus E1A oncoprotein(s). The biological function of p400 is not yet known, but it is structurally and immunologically closely related to p300 and CREB-binding protein, two known E1A-binding transcription adapters. Like p300, p400 is a phosphoprotein that binds to the simian virus 40 large tumor antigen (T). In anti-T coimmunoprecipitation experiments, staggered deletions spanning the amino-terminal 250 amino acids of T did not abrogate T binding to either p400 or p300. A T species composed of residues 251 to 708 bound both p400 and p300, while a T species defective in p53 binding was unable to bind either detectably. Anti-p53 immunoprecipitates prepared from cells containing wild-type T also contained p400 and p300. Hence, both p400 and p300 can bind (directly or indirectly) to a carboxyl-terminal fragment of T which contains its p53 binding domain. Since the p53 binding domain of T contributes to its immortalizing and transforming activities, T-p400 and/or T-p300 interactions may participate in these functions. PMID:8985331

  15. Validation of Online Versions of Tinnitus Questionnaires Translated into Swedish

    PubMed Central

    Müller, Karolina; Edvall, Niklas K.; Idrizbegovic, Esma; Huhn, Robert; Cima, Rilana; Persson, Viktor; Leineweber, Constanze; Westerlund, Hugo; Langguth, Berthold; Schlee, Winfried; Canlon, Barbara; Cederroth, Christopher R.

    2016-01-01

    Background: Due to the lack of objective measures for assessing tinnitus, its clinical evaluation largely relies on the use of questionnaires and psychoacoustic tests. A global assessment of tinnitus burden would largely benefit from holistic approaches that not only incorporate measures of tinnitus but also take into account associated fears, emotional aspects (stress, anxiety, and depression), and quality of life. In Sweden, only a few instruments are available for assessing tinnitus, and the existing tools lack validation. Therefore, we translated a set of questionnaires into Swedish and evaluated their reliability and validity in a group of tinnitus subjects. Methods: We translated the English versions of the Tinnitus Functional Index (TFI), the Fear of Tinnitus Questionnaire (FTQ), the Tinnitus Catastrophizing Scale (TCS), the Perceived Stress Questionnaire (PSQ-30), and the Tinnitus Sample Case History Questionnaire (TSCHQ) into Swedish. These translations were delivered via the internet with the already existing Swedish versions of the Tinnitus Handicap Inventory (THI), the Hospital Anxiety and Depression Scale (HADS), the Hyperacusis Questionnaire (HQ), and the World Health Organization Quality of Life questionnaire (WHOQoL-BREF). Psychometric properties were evaluated by means of internal consistency [Cronbach's alpha (α)] and test–retest reliability across a 9-week interval [Intraclass Correlation Coefficient (ICC), Cohen's kappa] in order to establish construct as well as clinical validity using a sample of 260 subjects from a population-based cohort. Results: Internal consistency was acceptable for all questionnaires (α > 0.7) with the exception of the “social relationships” subscale of the WHOQoL-BREF. Test–retest reliability was generally acceptable (ICC > 0.70, Cohens kappa > 0.60) for the tinnitus-related questionnaires, except for the TFI “sense of control” subscale and 15 items of the TSCHQ. Spearmen rank correlations showed that

  16. 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.

  17. 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…

  18. A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.

    PubMed

    Bertoli Avella, A M; Marcheco Teruel, B; Llibre Rodriguez, J J; Gomez Viera, N; Borrajero Martinez, I; Severijnen, E A; Joosse, M; van Duijn, C M; Heredero Baute, L; Heutink, P

    2002-10-01

    We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic episodes were described in 4 (n = 18) patients. Neuropathological examination of brain material (1 patient) revealed neuronal loss, amyloid plaques, and neurofibrillary tangles. Thirty DNA samples were genotyped (regions on chromosome 1, 3, 10, 12, 14, 17, 19, 20, and 21). A maximum Lod score of 3.79 at theta = 0 was obtained for marker D14S43, located in a 9-cM interval in which all patients shared the same haplotype. Sequencing of the PSEN1 gene revealed a heterozygous base substitution, C520A (exon 6), which is predicted to cause an amino acid change from leucine to methionine in the TMIII of the presenilin 1 protein. The mutation was found to co-segregate with the disease phenotype and the associated disease haplotype. The C --> A change was not observed in 80 control chromosomes from the Cuban population. Leucine at position 174 is highly conserved among species and is identical in presenilin 1 and presenilin 2 proteins. We propose the L174 M mutation might lead to an abnormal N-terminal and probably C-terminal fragments and malfunction of the protein complex. In conclusion, we found a novel PSEN1 mutation in a large family with clinical and pathological diagnosis of early onset familial Alzheimer disease, which may be relevant for other Hispanic populations.

  19. 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

  20. 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.

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

    PubMed

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

    2013-01-01

    Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal dominant hypercholesterolemia (ADH), due to the mutations in the LDLR, APOB, or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to the high levels of low-density lipoproteins (LDLs). We now report an exceptionally large family including 14 members with ADH. Through genome-wide mapping, analysis of regional/functional candidate genes, and whole exome sequencing, we identified a mutation in the APOE gene, c.500_502delTCC/p.Leu167del, previously reported associated with sea-blue histiocytosis and familial combined hyperlipidemia. We confirmed the involvement of the APOE p.Leu167del in ADH, with (1) a predicted destabilization of an alpha-helix in the binding domain, (2) a decreased apo E level in LDLs, and (3) a decreased catabolism of LDLs. Our results show that mutations in the APOE gene can be associated with bona fide ADH.

  2. A Large Expansion of the HSFY Gene Family in Cattle Shows Dispersion across Yq and Testis-Specific Expression

    PubMed Central

    Hamilton, Christine K.; Revay, Tamas; Domander, Robin; Favetta, Laura A.; King, W. Allan

    2011-01-01

    Heat shock transcription factor, Y-linked (HSFY) is a member of the heat shock transcriptional factor (HSF) family that is found in multiple copies on the Y chromosome and conserved in a number of species. Its function still remains unknown but in humans it is thought to play a role in spermatogenesis. Through real time polymerase chain reaction (PCR) analyses we determined that the HSFY family is largely expanded in cattle (∼70 copies) compared with human (2 functional copies, 4 HSFY-similar copies). Unexpectedly, we found that it does not vary among individual bulls as a copy number variant (CNV). Using fluorescence in situ hybridization (FISH) we found that the copies are dispersed along the long arm of the Y chromosome (Yq). HSFY expression in cattle appears restricted to the testis and its mRNA correlates positively with mRNA markers of spermatogonial and spermatocyte cells (UCHL1 and TRPC2, respectively) which suggests that HSFY is expressed (at least in part) in early germ cells. PMID:21408193

  3. A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

    PubMed Central

    Oda, Tetsuya; Xiong, Hui; Kobayashi, Kazuhiro; Wang, Shuo; Satake, Wataru; Jiao, Hui; Yang, Yanling; Cha, Pei-Chieng; Hayashi, Yukiko K; Nishino, Ichizo; Suzuki, Yutaka; Sugano, Sumio; Wu, Xiru; Toda, Tatsushi

    2015-01-01

    Laing distal myopathy (LDM) is an autosomal dominant myopathy that is caused by mutations in the slow/beta cardiac myosin heavy-chain (MYH7) gene. It has been recently reported that LDM presents with a wide range of clinical manifestations. We herein report a large Chinese family with autosomal dominant myopathy. The affected individuals in the family presented with foot drop in early childhood, along with progressive distal and proximal limb weakness. Their characteristic symptoms include scapular winging and scoliosis in the early disease phase and impairment of ambulation in the advanced phase. Although limb-girdle muscle dystrophy (LGMD) was suspected initially, a definite diagnosis could not be reached. As such, we performed linkage analysis and detected four linkage regions, namely 1q23.2-24.1, 14q11.2-12, 15q26.2-26.3 and 17q24.3. Through subsequent whole exome sequencing, we found a de novo p.K1617del causative mutation in the MYH7 gene and diagnosed the disease as LDM. This is the first LDM case in China. Our patients have severe clinical manifestations that mimic LGMD in comparison with the patients with the same mutation reported elsewhere. PMID:27081534

  4. Gene structure, chromosomal localization, and expression pattern of Capn12, a new member of the calpain large subunit gene family.

    PubMed

    Dear, T N; Meier, N T; Hunn, M; Boehm, T

    2000-09-01

    We report the identification of mouse Capn12, a new member of the calpain large subunit gene family. It possesses potential protease and calcium-binding domains, features typical of the classical calpains. In situ hybridization and Northern blot analysis demonstrate that during the anagen phase of the hair cycle the cortex of the hair follicle is the major expression site of Capn12. The gene was sequenced in its entirety and consists of 21 exons spanning 13 kb with an exon-intron structure typical of the calpain gene family. The last exon of the mouse Actn4 gene overlaps the 3' end of Capn12 but in the opposite orientation. This overlap between the two genes is conserved in the human genome. Three versions of the Capn12 mRNA transcript were identified. They occur as a result of alternative splicing, and two of these encode a protein lacking the C-terminal calmodulin-like domain. Radiation hybrid mapping localized Capn12 to mouse chromosome 7, closely linked to a marker positioned at 10.4 cM. Refined mapping of Capn5, also previously localized to chromosome 7, indicated that it was not closely linked to Capn12, mapping tightly linked to a marker positioned at 48.5 cM.

  5. 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.

  6. 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.

  7. 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

    2015-12-09

    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.

  8. The Swedish Rocket Corps, 1833 - 1845

    NASA Technical Reports Server (NTRS)

    Skoog, A. I.

    1977-01-01

    Rockets for pyrotechnic displays used in Sweden in the 19th century are examined in terms of their use in war situations. Work done by the Swedish chemist J. J. Berzelius, who analyzed and improved the propellants of such rockets, and the German engineer, Martin Westermaijer, who researched manufacturing techniques of these rockets is also included.

  9. Swedish Modal Particles in a Contrastive Perspective.

    ERIC Educational Resources Information Center

    Aijmer, Karen

    1996-01-01

    Presents a study based on the analysis of contrastive Swedish-English data on modal particles. The article maintains that the meaning of modal particles requires an analysis of their pragmatic aspects such as the relation between the interlocutors. The analysis most accurately accounting for the multifunctionality of the particles is based on a…

  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. 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…

  12. 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…

  13. Swedish Research on Higher Education in Perspective.

    ERIC Educational Resources Information Center

    Bjorklund, Eskil

    1991-01-01

    This newsletter reproduces a discussion between Eskil Bjorklund, former director of The Council for Studies of Higher Education in Sweden and his successor, Thorsten Nybom, concerning the Swedish Research on Higher Education Program. This program was established in 1968 to direct the organization of research on higher education and award research…

  14. Second Chances for Adults: The Swedish Plan.

    ERIC Educational Resources Information Center

    Henricson, Sven-Eric

    The organization of higher education in Sweden, entrance requirements, and the system for selection of applicants for higher education are summarized, as is the Swedish system of economic study assistance. Numbers of students, terms of admission, and other data are presented concerning the different types of adult education in Sweden (Municipal…

  15. 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…

  16. Large Deviations for Stationary Probabilities of a Family of Continuous Time Markov Chains via Aubry-Mather Theory

    NASA Astrophysics Data System (ADS)

    Lopes, Artur O.; Neumann, Adriana

    2015-05-01

    In the present paper, we consider a family of continuous time symmetric random walks indexed by , . For each the matching random walk take values in the finite set of states ; notice that is a subset of , where is the unitary circle. The infinitesimal generator of such chain is denoted by . The stationary probability for such process converges to the uniform distribution on the circle, when . Here we want to study other natural measures, obtained via a limit on , that are concentrated on some points of . We will disturb this process by a potential and study for each the perturbed stationary measures of this new process when . We disturb the system considering a fixed potential and we will denote by the restriction of to . Then, we define a non-stochastic semigroup generated by the matrix , where is the infinifesimal generator of . From the continuous time Perron's Theorem one can normalized such semigroup, and, then we get another stochastic semigroup which generates a continuous time Markov Chain taking values on . This new chain is called the continuous time Gibbs state associated to the potential , see (Lopes et al. in J Stat Phys 152:894-933, 2013). The stationary probability vector for such Markov Chain is denoted by . We assume that the maximum of is attained in a unique point of , and from this will follow that . Thus, here, our main goal is to analyze the large deviation principle for the family , when . The deviation function , which is defined on , will be obtained from a procedure based on fixed points of the Lax-Oleinik operator and Aubry-Mather theory. In order to obtain the associated Lax-Oleinik operator we use the Varadhan's Lemma for the process . For a careful analysis of the problem we present full details of the proof of the Large Deviation Principle, in the Skorohod space, for such family of Markov Chains, when . Finally, we compute the entropy of the invariant probabilities on the Skorohod space associated to the Markov Chains we analyze.

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

    PubMed

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

    1997-12-12

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

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

    PubMed

    Polkinghorne, Adam; Vaughan, Lloyd

    2011-01-01

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

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

    ERIC Educational Resources Information Center

    Brese, Falk; Mirazchiyski, Plamen

    2013-01-01

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

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

    PubMed Central

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

    2014-01-01

    Genomic selection (GS) is of interest in breeding because of its potential for predicting the genetic value of individuals and increasing genetic gains per unit of time. To date, very few studies have reported empirical results of GS potential in the context of large population sizes and long breeding cycles such as for boreal trees. In this study, we assessed the effectiveness of marker-aided selection in an undomesticated white spruce (Picea glauca (Moench) Voss) population of large effective size using a GS approach. A discovery population of 1694 trees representative of 214 open-pollinated families from 43 natural populations was phenotyped for 12 wood and growth traits and genotyped for 6385 single-nucleotide polymorphisms (SNPs) mined in 2660 gene sequences. GS models were built to predict estimated breeding values using all the available SNPs or SNP subsets of the largest absolute effects, and they were validated using various cross-validation schemes. The accuracy of genomic estimated breeding values (GEBVs) varied from 0.327 to 0.435 when the training and the validation data sets shared half-sibs that were on average 90% of the accuracies achieved through traditionally estimated breeding values. The trend was also the same for validation across sites. As expected, the accuracy of GEBVs obtained after cross-validation with individuals of unknown relatedness was lower with about half of the accuracy achieved when half-sibs were present. We showed that with the marker densities used in the current study, predictions with low to moderate accuracy could be obtained within a large undomesticated population of related individuals, potentially resulting in larger gains per unit of time with GS than with the traditional approach. PMID:24781808

  1. 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.

  2. An investigation on the presence of Chlamydiaceae in Swedish dogs

    PubMed Central

    2010-01-01

    Background Bacteria belonging to the family Chlamydiaceae cause a broad spectrum of diseases in a wide range of hosts, including man, other mammals, and birds. Upper respiratory and genital diseases are common clinical problems caused by Chlamydiaceae. Very little is known about chlamydial infections in dogs. Few clinical reports on natural disease in dogs describe mainly conjunctival and upper respiratory signs, and the role of Chlamydiaceae in genital disease is unclear. The present study aimed at studying the prevalence of Chlamydiaceae in healthy dogs and in dogs with genital or upper respiratory disease, including conjunctivitis. Methods A real-time polymerase chain reaction (PCR) for Chlamydiaceae was used to detect any chlamydial species within this family. Swab samples from the conjunctiva and the mucosal membranes of the oropharynx, rectum and genital tract were taken from 79 dogs: 27 clinically healthy dogs, 25 dogs with clinical signs from the genital tract and 28 dogs with conjunctivitis. There were 52 female and 27 male dogs. From 7 of the male dogs, additional semen samples were analysed. Results No Chlamydiaceae were detected from any dog. Conclusions Although the number of dogs that was included is limited, the results suggest that cases of Chlamydiaceae in dogs probably are related to infection from other species, and that dogs in general do not harbour Chlamydiaceae. Bacteria belonging to the family Chlamydiaceae do not seem to be of major importance for genital or ocular disease in Swedish dogs. PMID:21078208

  3. 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

  4. 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.

  5. Catastrophic-flood Features in Swedish Lapland as a Terrestrial Analog for Martian Channel Flows

    NASA Technical Reports Server (NTRS)

    Rossbacher, L. A.; Rhodes, D. D.

    1985-01-01

    Catastrophic flooding associated with deglaciation created unusual landscapes in several areas of northern Sweden. These areas in Swedish Lapland are distinguished by the large grain-size material that forms them. The presence of boulders at both Viking landing sites suggests the relevance of this analog. The Baldakatj area of Swedish Lapland offers terrestrial analogs for erosional remnants on Mars. Although the Baldakatj features are an order of magnitude or more smaller than the Martian forms, they created in boulder-rich till that may be a good approximation of the near-surface material on Mars. The Baldakatj area also includes other landforms that could reasonably be expected to occur with the Martian outflow channels, including boulder deltas, large transported blocks, and large-scale bedforms.

  6. Concussion among Swedish elite ice hockey players.

    PubMed Central

    Tegner, Y; Lorentzon, R

    1996-01-01

    OBJECTIVE: To evaluate the frequency of concussion in Swedish ice hockey and to establish a uniform grading and treatment model for concussions of different severity. METHODS: Frequency of concussion was investigated in two studies, one retrospective and one prospective. In the retrospective study, all Swedish elite ice hockey players (n = 265) were asked to answer a questionnaire on the number and treatment of previous concussions. Only concussions diagnosed by a doctor were recorded. The questionnaire was completed by 227 players (86%). In the prospective study, all injuries including concussions occurring during game and practice in the Swedish Elite League (n = 12 teams) were recorded during four years. The causes of injury, referees judgements, diagnosis, treatment, and time absent from ice hockey were registered on special cards. RESULTS: In the retrospective study, 51 out of 227 players (22%) in the Swedish Elite League reported at least one concussion. In the prospective study, 52 concussions were reported. The incidence of a concussion is at least one concussion every year/team or a yearly risk of about 5% for a player to sustain a concussion. Most concussions occurred during league play (81%). Body contact (checking or boarding) was the most common cause of concussions. The players were absent from full training and play on a mean of 6 d. CONCLUSIONS: As this injury is potentially dangerous it must be treated seriously according to a simple treatment model presented. In cases of repeated concussions during the same season, a longer period of time away from play is suggested. In players who have sustained several concussions over the years a thorough medical examination including EEG, CT/MRI, and neuropsychological tests should be performed. If any of these is pathological the player should be advised to give up ice hockey. PMID:8889123

  7. Swedish anthropometrics for product and workplace design.

    PubMed

    Hanson, Lars; Sperling, Lena; Gard, Gunvor; Ipsen, Staffan; Olivares Vergara, Cindy

    2009-07-01

    The present study describes the anthropometrics of the Swedish workforce, aged 18-65, and compares the measurements with data collected four decades earlier. This anthropometric information is based on measurements of a total of 367 subjects, 105 males and 262 females. Of the 367 subjects, 268 responded to advertisements (Study A) and 99 were randomly selected from a community register (Study B). Subjects were scanned in four positions. Manual measuring equipment was used for hands, feet, head and stature. As differences between significant measurements in Studies A and B were negligible, the data were merged. Anthropometric descriptive statistics of women and men are presented for 43 body dimensions. Participants represent the Swedish population fairly well when compared with national statistics of stature and weight. Comparing new anthropometric data with old shows that the breadth, depth, height, and length measurements of Swedes as well as weight have increased and that Swedish anthropometric homogeneity has decreased. The results indicate that there is a need to update ergonomic recommendations and adjust products and workplaces to the new information.

  8. 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.

  9. 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.

  10. 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.

  11. Cervical screening participation and risk among Swedish-born and immigrant women in Sweden.

    PubMed

    Azerkan, Fatima; Sparén, Pär; Sandin, Sven; Tillgren, Per; Faxelid, Elisabeth; Zendehdel, Kazem

    2012-02-15

    Cervical cancer is one of the most common cancers among women worldwide, although cervical screening has reduced the incidence in many high-income countries. Low screening uptake among immigrant women may reflect differences in risk of cervical cancer. We investigated the degree of participation in cervical screening among immigrant and Swedish-born women and their concurrent risk of cervical cancer based on individual information on Pap smears taken both from organized and opportunistic screening. Mean degree of participation in cervical screening was estimated for women between 23 and 60 years from 1993 to 2005, stratified by birth region and age at migration. In Poisson regression models, we estimated relative risks (RRs), incidence rates and incidence rate ratios of cervical cancer for women adhering or not to the cervical screening program. We also assessed effect of adherence to screening on the risk of cervical cancer among immigrant groups compared to Swedish-born women. The degree of participation was 62% and 49% among Swedish-born and immigrant women, respectively, with large variations between immigrant groups. Participation was lowest among those immigrating at older ages. Swedish-born and immigrant women who where nonadherent to the cervical screening program had a fivefold excess risk of cervical cancer compared to adherent women. After adjustment for screening adherence, excess RRs of cervical cancer were statistically significant only for women from Norway and the Baltic States. Participation to screening is lower among immigrant than Swedish-born women, and adherence to the recommended screening intervals strongly prevents cervical cancer.

  12. 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

  13. 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

  14. The gustatory receptor family in the silkworm moth Bombyx mori is characterized by a large expansion of a single lineage of putative bitter receptors.

    PubMed

    Wanner, K W; Robertson, H M

    2008-12-01

    The gustatory receptor (Gr) family of insect chemoreceptors includes receptors for sugars and bitter compounds, as well as cuticular hydrocarbons and odorants such as carbon dioxide. We have annotated a total of 65 Gr genes from the silkworm Bombyx mori genome. The Gr family in the silkworm moth includes putative carbon dioxide receptors and sugar receptors, as well as duplicated orthologues of the orphan DmGr43a receptor. Most prominent in this 65-gene family, however, is a single large expansion of 55 Grs that we propose are predominantly 'bitter' receptors involved in perception of the large variety of secondary plant chemicals that caterpillars and moths encounter. These Grs might therefore mediate food choice and avoidance as well as oviposition site preference.

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

    PubMed

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

    2017-04-11

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

  16. 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…

  17. 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.

  18. Mathematical Reasoning Requirements in Swedish Upper Secondary Level Assessments

    ERIC Educational Resources Information Center

    Palm, Torulf; Boesen, Jesper; Lithner, Johan

    2011-01-01

    We investigate the mathematical reasoning required to solve the tasks in the Swedish national tests and a random selection of Swedish teacher-made tests. The results show that only a small proportion of the tasks in the teacher-made tests require the students to produce new reasoning and to consider the intrinsic mathematical properties involved…

  19. 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…

  20. 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)

  1. 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…

  2. 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…

  3. Problem Solving in Swedish Mathematics Textbooks for Upper Secondary School

    ERIC Educational Resources Information Center

    Brehmer, Daniel; Ryve, Andreas; Van Steenbrugge, Hendrik

    2016-01-01

    The aim of this study is to analyse how mathematical problem solving is represented in mathematical textbooks for Swedish upper secondary school. The analysis comprises dominating Swedish textbook series, and relates to uncovering (a) the quantity of tasks that are actually mathematical problems, (b) their location in the chapter, (c) their…

  4. Teachers' Pedagogical Mathematical Awareness in Swedish Early Childhood Education

    ERIC Educational Resources Information Center

    Björklund, Camilla; Barendregt, Wolmet

    2016-01-01

    Revised guidelines for Swedish early childhood education that emphasize mathematics content and competencies in more detail than before raise the question of the status of pedagogical mathematical awareness among Swedish early childhood teachers. The purpose of this study is to give an overview of teachers' current pedagogical mathematical…

  5. 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…

  6. Swedish chemical regulation: an overview and analysis.

    PubMed

    Löfstedt, Ragnar E

    2003-04-01

    This article begins with a review of the regulation of chemicals in Sweden over the past 30 years, focusing particularly on the 1997 Government Environmental Quality Bill, which called for a toxic-free society by the year 2020. The second part of the article analyzes why Sweden has taken this route. The third and final section discusses Sweden's present role in formulating present EU chemical regulation, such as the recent EU Chemical White Paper, and hypothesizes future impacts of Swedish chemical regulations on the EU itself.

  7. Swedish prosody. Summary of a project.

    PubMed

    Gårding, E

    1982-01-01

    The paper summarizes project work on Swedish accents and intonation. One major goal was the development of a generative model for intonation. The input of the model is a text with markings for word and sentence prosody and dialect. The output is a realistic intonation contour. The model was first set up for statement intonation in isolated sentences from five prototype dialects. It was later applied to interrogative intonation, to transitional forms between the prototype dialects, to Greek and French intonation and to prosodic transfer in a foreign accent.

  8. Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

    PubMed

    Lofrano-Porto, Adriana; Barra, Gustavo B; Nascimento, Paula P; Costa, Patrícia G G; Garcia, Erica C; Vaz, Rodrigo F; Batista, Ana R T; Freitas, Ana C R de; Cherulli, Bruno L B; Bahmad, Fayez; Figueiredo, Larissa G; Neves, Francisco A R; Casulari, Luiz Augusto

    2008-11-01

    Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with PS. We describe the clinical and molecular characteristics of a large consanguineous family harboring a mutation in the SLC26A4 gene. The proband was a 26-year-old deaf Brazilian woman who presented a bulky multinodular goiter and hypothyroidism since puberty. Five other siblings were deaf: one brother had a similar phenotype, three siblings also had goiters but normal thyroid function tests, and one brother had only a subtle thyroid enlargement. Other 4 siblings had no thyroid or hearing disorder. Parents were first degree cousins and had normal hearing. The mother was healthy, except for subclinical hypothyroidism; the father was deceased. A perchlorate test in the proband showed a discharge of 21% of the incorporated iodide 2h after the administration of 1g of KClO4. Audiological examinations showed profound hearing loss in all deaf subjects; CT and MRI of the temporal bones showed EVA in all of them. Genomic DNA was isolated from whole blood, from the 6 affected and 4 unaffected siblings, the mother and control. The coding region of the PDS gene (exons 2-21), including exon/intron boundaries, were amplified by PCR and sequenced. A single base-pair (T) deletion at position 1197 of exon 10 was detected in homozygous state in the 6 deaf siblings. The mother and 2 unaffected siblings were heterozygous for this mutation, which has been described by Everett et al. The 1197delT mutation is predicted to result in a frameshift and a truncated protein. The existence of PS phenocopies and intrafamilial phenotypic variability are well documented. The definite

  9. 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

  10. Use of functional foods among Swedish consumers is related to health-consciousness and perceived effect.

    PubMed

    Landström, Eva; Hursti, Ulla-Kaisa Koivisto; Becker, Wulf; Magnusson, Maria

    2007-11-01

    The aim of the present study was to survey attitudes to and use of functional foods and to investigate which demographic variables and attitudes to diet and health predict consumption of functional foods among Swedish consumers. A questionnaire was developed and sent to 2000 randomly selected Swedish citizens aged between 17 and 75 years. A total of 972 (48%) responded, 53% were female and 44% male. Mean age was 45 years. The results revealed that 84% of respondents were familiar with the concept of functional foods; 83% had consumed/purchased at least one of the seven functional food products presented in the questionnaire. Of those who had consumed a functional food, 25% had perceived effect of it. Positive correlations were seen between consumers perceiving a personal reward from eating functional foods, having an interest in natural products and an interest in general health. Consumption/purchase of functional foods was related to beliefs in the effects of the products, having consumed nutraceuticals or dietary supplements, having a diet-related problem personally or in the family, and a high level of education. The characteristic Swedish functional food consumer has a high level of education, is health-conscious and interested in healthy foods and believes in the health effect of functional foods. Thus, factors other than demographics better explain consumption of FF. However, the study population may represent a more health-conscious segment of the Swedish population in general. Additional studies are therefore required to elucidate the attitudes and use of FF in different consumer groups.

  11. Analysis of BRCA1and BRCA2 large genomic rearrangements in Sri Lankan familial breast cancer patients and at risk individuals

    PubMed Central

    2014-01-01

    Background Majority of mutations found to date in the BRCA1/BRCA2 genes in breast and/or ovarian cancer families are point mutations or small insertions and deletions scattered over the coding sequence and splice junctions. Such mutations and sequence variants of BRCA1 and BRCA2 genes were previously identified in a group of Sri Lankan breast cancer patients. Large genomic rearrangements have been characterized in BRCA1 and BRCA2 genes in several populations but these have not been characterized in Sri Lankan breast cancer patients. Findings A cohort of familial breast cancer patients (N = 57), at risk individuals (N = 25) and healthy controls (N = 23) were analyzed using multiplex ligation-dependent probe amplification method to detect BRCA1 and BRCA2 large genomic rearrangements. One familial breast cancer patient showed an ambiguous deletion in exon 6 of BRCA1 gene. Full sequencing of the ambiguous region was used to confirm MLPA results. Ambiguous deletion detected by MLPA was found to be a false positive result confirming that BRCA1 large genomic rearrangements were absent in the subjects studied. No BRCA2 rearrangement was also identified in the cohort. Conclusion Thus this study demonstrates that BRCA1 and BRCA2 large genomic rearrangements are unlikely to make a significant contribution to aetiology of breast cancer in Sri Lanka. PMID:24906410

  12. 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.

  13. Conscientious refusal in healthcare: the Swedish solution.

    PubMed

    Munthe, Christian

    2017-04-01

    The Swedish solution to the legal handling of professional conscientious refusal in healthcare is described. No legal right to conscientious refusal for any profession or class of professional tasks exists in Sweden, regardless of the religious or moral background of the objection. The background of this can be found in strong convictions about the importance of public service provision and related civic duties, and ideals about rule of law, equality and non-discrimination. Employee's requests to change work tasks are handled on a case-by-case basis within the frames of labour law, ensuring full voluntariness, and also employer's privilege regarding the organisation and direction of work, and duties of public institutions to provide services. Two complicating aspects of this solution related to the inclusion of 'alternative medical' service providers in a national health service, and professional insistence on conscientious refusal rights to accept legalised assisted dying are discussed. The latter is found to undermine the pragmatic reasons behind recent attempts by prolife groups to challenge the Swedish solution related to legal abortion in courts.

  14. 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.

  15. The Swedish CArdioPulmonary BioImage Study: objectives and design.

    PubMed

    Bergström, G; Berglund, G; Blomberg, A; Brandberg, J; Engström, G; Engvall, J; Eriksson, M; de Faire, U; Flinck, A; Hansson, M G; Hedblad, B; Hjelmgren, O; Janson, C; Jernberg, T; Johnsson, Å; Johansson, L; Lind, L; Löfdahl, C-G; Melander, O; Östgren, C J; Persson, A; Persson, M; Sandström, A; Schmidt, C; Söderberg, S; Sundström, J; Toren, K; Waldenström, A; Wedel, H; Vikgren, J; Fagerberg, B; Rosengren, A

    2015-12-01

    Cardiopulmonary diseases are major causes of death worldwide, but currently recommended strategies for diagnosis and prevention may be outdated because of recent changes in risk factor patterns. The Swedish CArdioPulmonarybioImage Study (SCAPIS) combines the use of new imaging technologies, advances in large-scale 'omics' and epidemiological analyses to extensively characterize a Swedish cohort of 30 000 men and women aged between 50 and 64 years. The information obtained will be used to improve risk prediction of cardiopulmonary diseases and optimize the ability to study disease mechanisms. A comprehensive pilot study in 1111 individuals, which was completed in 2012, demonstrated the feasibility and financial and ethical consequences of SCAPIS. Recruitment to the national, multicentre study has recently started.

  16. 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.

  17. A Comparative Analysis of Training and Development and Work-Family Education Systems in a Large Corporate Organization

    ERIC Educational Resources Information Center

    Gibson, Sharon K.

    2005-01-01

    This paper reviews the findings of a comparative analysis of two education systems in one corporate organization: training and development and work-family. Key learning features across these systems were analyzed to determine similarities and differences and to identify common concerns. The findings indicated that, although this organization…

  18. Novel 6-bp deletion in MEF2A linked to premature coronary artery disease in a large Chinese family

    PubMed Central

    XU, DONG-LING; TIAN, HONG-LIANG; CAI, WEI-LI; ZHENG, JIE; GAO, MIN; ZHANG, MING-XIANG; ZHENG, ZHAO-TONG; LU, QING-HUA

    2016-01-01

    The aim of the present study was to identify the genetic defect responsible for familial coronary artery disease/myocardial infarction (CAD/MI), which exhibited an autosomal dominant pattern of inheritance, in an extended Chinese Han pedigree containing 34 members. Using exome and Sanger sequencing, a novel 6-base pair (bp) 'CAGCCG' deletion in exon 11 of the myocyte enhancer factor 2A (MEF2A) gene was identified, which cosegregated with CAD/MI cases in this family. This 6-bp deletion was not detected in 311 sporadic cases of premature CAD/MI or in 323 unrelated healthy controls. Determination of a genetic risk profile has a key role in understanding the pathogenesis of CAD and MI. Among the reported risk conferring genes and their variants, mutations in MEF2A have been reported to segregate with CAD/MI in Caucasian families. Causative missense mutations have also been detected in sporadic CAD/MI cases. However, this suggested genetic linkage is controversial, since it could not be confirmed by ensuing studies. The discovery of a novel MEF2A mutation in a Chinese family with premature CAD/MI suggests that MEF2A may have a significant role in the pathogenesis of premature CAD/MI. To better understand this association, further in vitro and in vivo studies are required. PMID:27221044

  19. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

    PubMed Central

    Cavalier, L; Ouahchi, K; Kayden, H J; Di Donato, S; Reutenauer, L; Mandel, J L; Koenig, M

    1998-01-01

    Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). We now have identified a total of 13 mutations in 27 families. Four mutations were found in >=2 independent families: 744delA, which is the major mutation in North Africa, and 513insTT, 486delT, and R134X, in families of European origin. Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%. This study represents the largest group of patients and mutations reported for this often misdiagnosed disease and points to the need for an early differential diagnosis with Friedreich ataxia, in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops. PMID:9463307

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

    PubMed

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

    2011-01-01

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

  1. Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

    PubMed Central

    Mayer, Anja-Kathrin; Mahajnah, Muhammad; Zobor, Ditta; Bonin, Michael; Sharkia, Rajech

    2015-01-01

    Purpose To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP). Methods DNA samples were collected from the index patient, her parents, her affected sister, and two non-affected siblings. Genome-wide linkage analysis with 250 K single nucleotide polymorphism (SNP) arrays was performed using DNA from the two affected patients. Owing to consanguinity in the family, we applied homozygosity mapping to identify the disease-causing gene. The candidate gene SPATA7 was screened for mutations with PCR amplifications and direct Sanger sequencing. Results Following high-density SNP arrays, we identified several homozygous genomic regions one of which included the SPATA7 gene. Several mutations in SPATA7 have been reported for various forms of retinal dystrophy, including Leber congenital amaurosis (LCA) and juvenile RP. PCR-based sequence content mapping, long-distance PCR amplifications, and subsequent sequencing analysis revealed a homozygous 63.4 kb large deletion that encompasses the 5′ part of the SPATA7 gene including exons 1–5. The mutation showed concordant segregation with the phenotype in the family as expected for autosomal recessive mode of inheritance and is consistent with a diagnosis of juvenile RP. Conclusions We report a novel homozygous large deletion in SPATA7 associated with juvenile RP in a consanguineous Israeli Muslim Arab family. This is the first larger deletion mutation reported for SPATA7. PMID:25814828

  2. Empathizing, systemizing and finger length ratio in a Swedish sample.

    PubMed

    Von Horn, Agneta; Bäckman, Lisa; Davidsson, Thomas; Hansen, Stefan

    2010-02-01

    The Empathy- and Systemizing Quotients (EQ and SQ, respectively; Baron-Cohen, 2003) were determined in a Swedish sample consisting mainly of university undergraduates. Females had significantly higher EQ than males, who in turn scored higher on the SQ inventory. Gender explained 12-14% of the variation. Males were strikingly overrepresented in the group defined by a high SQ/low EQ profile or by a large SQ - EQ difference; females dominated among people with a low SQ/high EQ profile or by a large EQ - SQ difference. Students majoring in the natural sciences had higher SQs than psychology majors, but in both groups the gender difference in SQ and EQ was strong. For each participant a weighted composite score was generated by multivariate processing of the EQ and SQ data (Partial Least Square Discriminant Analysis). These scores were associated in a sex-linked fashion to a biometric measure reflecting prenatal testosterone exposure, i.e. the ratio between index (2D)- and ring (4D) finger lengths. In males a high (female-typical) 2D:4D ratio predicted an enhanced tendency to empathize and a reduced tendency to systemize; in women, by contrast, the 2D:4D ratio was unrelated to these traits. The present research confirms earlier work of a gender difference in EQ and SQ. The difference appears robust as it appears as large in Sweden (a country with high cultural gender-equality) as in countries with considerably lower gender-equality.

  3. Function search in a large transcription factor gene family in Arabidopsis: assessing the potential of reverse genetics to identify insertional mutations in R2R3 MYB genes.

    PubMed Central

    Meissner, R C; Jin, H; Cominelli, E; Denekamp, M; Fuertes, A; Greco, R; Kranz, H D; Penfield, S; Petroni, K; Urzainqui, A; Martin, C; Paz-Ares, J; Smeekens, S; Tonelli, C; Weisshaar, B; Baumann, E; Klimyuk, V; Marillonnet, S; Patel, K; Speulman, E; Tissier, A F; Bouchez, D; Jones, J J; Pereira, A; Wisman, E

    1999-01-01

    More than 92 genes encoding MYB transcription factors of the R2R3 class have been described in Arabidopsis. The functions of a few members of this large gene family have been described, indicating important roles for R2R3 MYB transcription factors in the regulation of secondary metabolism, cell shape, and disease resistance, and in responses to growth regulators and stresses. For the majority of the genes in this family, however, little functional information is available. As the first step to characterizing these genes functionally, the sequences of >90 family members, and the map positions and expression profiles of >60 members, have been determined previously. An important second step in the functional analysis of the MYB family, through a process of reverse genetics that entails the isolation of insertion mutants, is described here. For this purpose, a variety of gene disruption resources has been used, including T-DNA-insertion populations and three distinct populations that harbor transposon insertions. We report the isolation of 47 insertions into 36 distinct MYB genes by screening a total of 73 genes. These defined insertion lines will provide the foundation for subsequent detailed functional analyses for the assignment of specific functions to individual members of the R2R3 MYB gene family. PMID:10521515

  4. Hunting effects on favourable conservation status of highly inbred Swedish wolves.

    PubMed

    Laikre, Linda; Jansson, Mija; Allendorf, Fred W; Jakobsson, Sven; Ryman, Nils

    2013-04-01

    The wolf (Canis lupus) is classified as endangered in Sweden by the Swedish Species Information Centre, which is the official authority for threat classification. The present population, which was founded in the early 1980s, descends from 5 individuals. It is isolated and highly inbred, and on average individuals are more related than siblings. Hunts have been used by Swedish authorities during 2010 and 2011 to reduce the population size to its upper tolerable level of 210 wolves. European Union (EU) biodiversity legislation requires all member states to promote a concept called "favourable conservation status" (FCS) for a series of species including the wolf. Swedish national policy stipulates maintenance of viable populations with sufficient levels of genetic variation of all naturally occurring species. Hunting to reduce wolf numbers in Sweden is currently not in line with national and EU policy agreements and will make genetically based FCS criteria less achievable for this species. We suggest that to reach FCS for the wolf in Sweden the following criteria need to be met: (1) a well-connected, large, subdivided wolf population over Scandinavia, Finland, and the Russian Karelia-Kola region should be reestablished, (2) genetically effective size (Ne ) of this population is in the minimum range of Ne = 500-1000, (3) Sweden harbors a part of this total population that substantially contributes to the total Ne and that is large enough to not be classified as threatened genetically or according to IUCN criteria, and (4) average inbreeding levels in the Swedish population are <0.1.

  5. A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

    PubMed

    Remiche, Gauthier; Kadhim, Hazim; Abramowicz, Marc; Mavroudakis, Nicolas; Monnier, Nicole; Lunardi, Joël

    2015-05-01

    We report a novel and particularly unusual type of mutation, namely, large deletion in the RYR1 gene, in a Belgian family with myopathy: Patients were found to be compound heterozygous and presented a clinico-pathological phenotype characterized by late-onset and recessive myopathy with cores. We depict the clinical, electrophysiological, pathological and molecular genetic characteristics of family members. To date, large deletions in the RYR1 gene have been reported in only two cases. Both involved different mutations and, in sharp contrast to our cases, presented with a very early-onset, neonatal, and a very severe or lethal phenotype. Overview of reported clinico-pathologic phenotypes, also highlights the rarity of combined late-onset/recessive co-occurrence in this group of myopathies with cores. Finally, this report underlines the broadening spectrum in this group of myopathologic disorders and highlights the concept of 'RYR1-associated/related core myopathies'.

  6. 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

  7. Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.

    PubMed

    Oosterwijk, J C; Nelen, M; Van Zandvoort, P M; Van Osch, L D; Oranje, A P; Wittebol-Post, D; Van Oost, B A

    1992-03-01

    In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at theta = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

  8. Survey of tuberculin testing in Swedish zoos.

    PubMed

    Sternberg, Susanna; Bernodt, Karin; Holmström, Andrea; Röken, Bengt

    2002-12-01

    Tuberculin test results from 214 animals in three Swedish zoos, tested between the years 1993 and 2000, were compiled from a questionnaire sent out to zoo veterinarians. Comparative testing with bovine and avian tuberculin was used on various sites of injection. A total of five skin test reactors were found: three cotton-top tamarins (Saguinus oedipus) in one zoo and two tapirs (Tapirus terrestris) in another zoo. Postmortem culture from one of the tapirs revealed growth of Mycobacterium tuberculosis, and a stamping out policy was adopted in the herd. Tuberculosis in the primates was ruled out by further investigations. Zoo veterinarians should try to adopt a common scheme for the regular testing of zoo animals to improve the diagnostic ability and comparison of results between institutions.

  9. Gendered portraits of depression in Swedish newspapers.

    PubMed

    Bengs, Carita; Johansson, Eva; Danielsson, Ulla; Lehti, Arja; Hammarström, Anne

    2008-07-01

    Mass media are influential mediators of information, knowledge, and narratives of health and illness. In this article, we report on an examination of personal accounts of illness as presented in three Swedish newspapers, focusing on the gendered representation of laypersons' experiences of depression. A database search identified all articles mentioning depression during the year 2002. Twenty six articles focusing on personal experiences of depression were then subjected to a qualitative content analysis. We identified four themes: displaying a successful facade, experiencing a cracking facade, losing and regaining control, and explaining the illness. We found both similarities and differences with regard to gendered experiences. The mediated accounts of depression both upheld and challenged traditional gender stereotypes. The women's stories were more detailed, relational, emotionally oriented, and embodied. The portrayal of men was less emotional and expressive, and described a more dramatic onset of depression, reflecting hegemonic patterns of masculinity.

  10. 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

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

    PubMed

    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.

  12. 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

  13. 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

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

    PubMed

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

    2008-11-01

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

  15. 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

  16. 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

  17. An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family

    PubMed Central

    Wang, Bin; Diao, Yutao; Liu, Qiji; An, Hongqiang; Ma, Ruiping; Jiang, Guosheng; Lai, Nannan; Li, Ziwei; Zhu, Xiaoxiao; Zhao, Lin; Guo, Qiang; Zhang, Zhen; Sun, Rong; Li, Xia

    2016-01-01

    Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). Most previously reported cases involved with no more than one extra finger; however, the role of the point mutation or genomic duplications of ZRS in the case of more than one redundant finger polydactyly remains unclear. In this article, we reported a family case of more than one redundant finger polydactyly on the thumb side for bilateral hands with a pedigree chart of the family. Results of quantitative PCR (qPCR) and sequence analysis suggested that the relative copy number (RCN) of ZRS but not point mutation (including insertion and deletion) was involved in all affected individuals. PMID:27922091

  18. First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

    PubMed Central

    2014-01-01

    Background CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer. Case presentation Here, we describe an Italian family with a high number of cases of breast cancer and other types of tumour subjected to the MLPA test to verify the presence of BRCA1, BRCA2 and CHEK2 deletions and duplications. We identified a new 23-kb duplication in the CHEK2 gene extending from intron 5 to 13 that was associated with breast cancer in the family. The presence and localisation of the alteration was confirmed by a second analysis by Next-Generation Sequencing. Conclusions This finding suggests that CHEK2 mutations are heterogeneous and that techniques other than sequencing, such as MLPA, are needed to identify CHEK2 mutations. It also indicates that CHEK2 rare variants, such as duplications, can confer a high susceptibility to cancer development and should thus be studied in depth as most of our knowledge of CHEK2 concerns common mutations. PMID:24986639

  19. 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.

  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. Short-chain dehydrogenase/reductase (SDR) relationships: a large family with eight clusters common to human, animal, and plant genomes.

    PubMed

    Kallberg, Yvonne; Oppermann, Udo; Jörnvall, Hans; Persson, Bengt

    2002-03-01

    The progress in genome characterizations has opened new routes for studying enzyme families. The availability of the human genome enabled us to delineate the large family of short-chain dehydrogenase/reductase (SDR) members. Although the human genome releases are not yet final, we have already found 63 members. We have also compared these SDR forms with those of three model organisms: Caenorhabditis elegans, Drosophila melanogaster, and Arabidopsis thaliana. We detect eight SDR ortholog clusters in a cross-genome comparison. Four of these clusters represent extended SDR forms, a subgroup found in all life forms. The other four are classical SDRs with activities involved in cellular differentiation and signalling. We also find 18 SDR genes that are present only in the human genome of the four genomes studied, reflecting enzyme forms specific to mammals. Close to half of these gene products represent steroid dehydrogenases, emphasizing the regulatory importance of these enzymes.

  2. VSGdb: a database for trypanosome variant surface glycoproteins, a large and diverse family of coiled coil proteins

    PubMed Central

    Marcello, Lucio; Menon, Suraj; Ward, Pauline; Wilkes, Jonathan M; Jones, Nicola G; Carrington, Mark; Barry, J David

    2007-01-01

    Background Trypanosomes are coated with a variant surface glycoprotein (VSG) that is so densely packed that it physically protects underlying proteins from effectors of the host immune system. Periodically cells expressing a distinct VSG arise in a population and thereby evade immunity. The main structural feature of VSGs are two long α-helices that form a coiled coil, and sets of relatively unstructured loops that are distal to the plasma membrane and contain most or all of the protective epitopes. The primary structure of different VSGs is highly variable, typically displaying only ~20% identity with each other. The genome has nearly 2000 VSG genes, which are located in subtelomeres. Only one VSG gene is expressed at a time, and switching between VSGs primarily involves gene conversion events. The archive of silent VSGs undergoes diversifying evolution rapidly, also involving gene conversion. The VSG family is a paradigm for α helical coiled coil structures, epitope variation and GPI-anchor signals. At the DNA level, the genes are a paradigm for diversifying evolutionary processes and for the role of subtelomeres and recombination mechanisms in generation of diversity in multigene families. To enable ready availability of VSG sequences for addressing these general questions, and trypanosome-specific questions, we have created VSGdb, a database of all known sequences. Description VSGdb contains fully annotated VSG sequences from the genome sequencing project, with which it shares all identifiers and annotation, and other available sequences. The database can be queried in various ways. Sequence retrieval, in FASTA format, can deliver protein or nucleotide sequence filtered by chromosomes or contigs, gene type (functional, pseudogene, etc.), domain and domain sequence family. Retrieved sequences can be stored as a temporary database for BLAST querying, reports from which include hyperlinks to the genome project database (GeneDB) CDS Info and to individual VSGdb

  3. 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

  4. 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.

  5. The presence of zinc in Swedish waste fuels.

    PubMed

    Jones, Frida; Bisaillon, Mattias; Lindberg, Daniel; Hupa, Mikko

    2013-12-01

    Zinc (Zn) is a chemical element that has gained more attention lately owing to its possibility to form corrosive deposits in large boilers, such as Waste-to-Energy plants. Zn enters the boilers in many different forms and particularly in waste, the amount of Zn is hard to determine due to both the heterogeneity of waste in general but also due to the fact that little is yet published specifically about the Zn levels in waste. This study aimed to determine the Zn in Swedish waste fuels by taking regular samples from seven different and geographically separate waste combustion plants over a 12-month period. The analysis shows that there is a relation between the municipal solid waste (MSW) content and the Zn-content; high MSW-content gives lower Zn-content. This means that waste combustion plants with a higher share of industrial and commercial waste and/or building and demolition waste would have a higher share of Zn in the fuel. The study also shows that in Sweden, the geographic location of the plant does not have any effect on the Zn-content. Furthermore, it is concluded that different seasons appear not to affect the Zn concentrations significantly. In some plants there was a clear correlation between the Zn-content and the content of other trace metals.

  6. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

    SciTech Connect

    Orstavik, K.H.; Orstavik, R.E.; Eiklid, K.; Tranebjaerg, L.

    1996-07-12

    A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaeerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome. We examined X chromosome inactivation in 8 obligate and 12 possible carriers by using a polymerase chain reaction analysis of the methylation-dependent amplification of the polymorphic triplet repeat at the androgen receptor locus. Seven of 8 obligate carriers and 1 of 5 carriers by linkage analysis had an extremely skewed pattern in blood DNA not found in 30 normal females. The X inactivation pattern in fibroblast DNA from 2 of the carriers with the extremely skewed pattern was also skewed but to a lesser degree than in blood DNA. One obligate carrier had a random X inactivation pattern in both blood and fibroblast DNA. A selection mechanism for the skewed pattern is therefore not likely. The extremely skewed X inactivation in 8 females of 3 generations in this family may be caused by a single gene that influences skewing of X chromosome inactivation. 22 refs., 2 figs., 1 tab.

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

    PubMed Central

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

    2010-01-01

    While type 2 diabetes is well-known to be associated with poorer cognitive performance, few studies have reported on the association of metabolic syndrome (MetS) and contributing factors, such as insulin-resistance (HOMA-IR), low adiponectin-, and high C-reactive protein (CRP)- levels. We studied whether these factors are related to cognitive function and which of the MetS components are independently associated. The study was embedded in an ongoing family-based cohort study in a Dutch population. All participants underwent physical examinations, biomedical measurements, and neuropsychological testing. Linear regression models were used to determine the association between MetS, HOMA-IR, adiponectin levels, CRP, and cognitive test scores. Cross-sectional analyses were performed in 1,898 subjects (mean age 48 years, 43% men). People with MetS had significantly higher HOMA-IR scores, lower adiponectin levels, and higher CRP levels. MetS and high HOMA-IR were associated with poorer executive function in women (P = 0.03 and P = 0.009). MetS and HOMA-IR are associated with poorer executive function in women. PMID:20585974

  8. 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.

  9. Cancer risks in twins and singletons from twin and non-twin families.

    PubMed

    Chen, Lingjing; Cnattingius, Sven; Nyman Iliadou, Anastasia; Oberg, Anna Sara

    2016-03-01

    The unique intrauterine environment has been proposed to put twins at increased risk of certain cancers compared to singletons, still large population comparisons have generally indicated lower risks in twins. To improve the understanding of potential twin influence on cancer we compared twins to their singletons siblings, to target a unique twinning influence. Singletons from twin families were contrasted to singletons from non-twin families to further capture potential twin family influence on risk of cancer. Family relations were identified using the Swedish Multi-Generation Register. Among individuals born between 1932 and 1958, 49,156 twins and N = 35,227 singletons were identified from 18,098 unique twin families. All incident cases of specific cancer types were identified in the National Cancer Register up to the end of 2007. Standardized survival functions were estimated using weighted Cox proportional hazard regression and the corresponding cumulative risks plotted against age. Overall, primary cancers were identified in 9% and 18% of all male and female twins, compared to 11% and 19% of their male and female singleton siblings. When specific cancer sites were compared using standardized cumulative risk plots, no consistent statistically significant differences were noted either between twins and singletons of twin families or between singletons of twin and non-twin families. Despite a different intrauterine experience, twinning does not seem to have any greater negative influence on life-time risks of cancer. The findings also indicate that twin family membership has no substantial influence on cancer risks.

  10. 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.

  11. 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

  12. Lyssavirus-reactive antibodies in Swedish bats

    PubMed Central

    Hammarin, Anna-Lena; Berndtsson, Louise Treiberg; Falk, Kerstin; Nedinge, Marie; Olsson, Gert; Lundkvist, Åke

    2016-01-01

    Introduction To study the presence of European bat lyssavirus (EBLV) infections in bat reservoirs in Sweden, active surveillance was performed during the summers from 2008 to 2013. Material and methods Bat specimens were collected at >20 bat colonies in the central, southeastern, and southern parts of Sweden. In total, blood and saliva of 452 bats were examined by a virus neutralization test and by reverse transcription polymerase chain reactions (RT-PCRs). Results and discussion EBLV neutralizing antibodies were detected in 14 Daubenton's bats (Myotis daubentonii), all trapped in Skåne or Småland (south and southeast of Sweden). The result was not unexpected since EBLV has been shown to be present in many neighboring countries, for example, Denmark, Finland, Germany, and Norway. However, Sweden has been regarded free of rabies in terrestrial mammals since 1896. Although very rare, spillover of EBLV into other animals and humans have occurred, and the risk of EBLV infection to other species including humans should not be ignored. This is the first report of lyssavirus infection in Swedish bats. PMID:27974131

  13. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

    PubMed Central

    2014-01-01

    Background Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A. Methods We describe 64 different mutations in 70 unrelated Danish families using a routine five-gene screen, comprising KCNQ1, KCNH2 and SCN5A as well as KCNE1 and KCNE2. Results Twenty-two mutations were found in KCNQ1, 28 in KCNH2, 9 in SCN5A, 3 in KCNE1 and 2 in KCNE2. Twenty-six of these have only been described in the Danish population and 18 are novel. One double heterozygote (1.4% of families) was found. A founder mutation, p.F29L in KCNH2, was identified in 5 “unrelated” families. Disease association, in 31.2% of cases, was based on the type of mutation identified (nonsense, insertion/deletion, frameshift or splice-site). Functional data was available for 22.7% of the missense mutations. None of the mutations were found in 364 Danish alleles and only three, all functionally characterised, were recorded in the Exome Variation Server, albeit at a frequency of < 1:1000. Conclusion The genetic etiology of LQTS in Denmark is similar to that found in other populations. A large founder family with p.F29L in KCNH2 was identified. In 48.4% of the mutations disease causation was based on mutation type or functional analysis. PMID:24606995

  14. Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer

    PubMed Central

    Couch, Fergus J.; Hart, Steven N.; Sharma, Priyanka; Toland, Amanda Ewart; Wang, Xianshu; Miron, Penelope; Olson, Janet E.; Godwin, Andrew K.; Pankratz, V. Shane; Olswold, Curtis; Slettedahl, Seth; Hallberg, Emily; Guidugli, Lucia; Davila, Jaime I.; Beckmann, Matthias W.; Janni, Wolfgang; Rack, Brigitte; Ekici, Arif B.; Slamon, Dennis J.; Konstantopoulou, Irene; Fostira, Florentia; Vratimos, Athanassios; Fountzilas, George; Pelttari, Liisa M.; Tapper, William J.; Durcan, Lorraine; Cross, Simon S.; Pilarski, Robert; Shapiro, Charles L.; Klemp, Jennifer; Yao, Song; Garber, Judy; Cox, Angela; Brauch, Hiltrud; Ambrosone, Christine; Nevanlinna, Heli; Yannoukakos, Drakoulis; Slager, Susan L.; Vachon, Celine M.; Eccles, Diana M.; Fasching, Peter A.

    2015-01-01

    Purpose Recent advances in DNA sequencing have led to the development of breast cancer susceptibility gene panels for germline genetic testing of patients. We assessed the frequency of mutations in 17 predisposition genes, including BRCA1 and BRCA2, in a large cohort of patients with triple-negative breast cancer (TNBC) unselected for family history of breast or ovarian cancer to determine the utility of germline genetic testing for those with TNBC. Patients and Methods Patients with TNBC (N = 1,824) unselected for family history of breast or ovarian cancer were recruited through 12 studies, and germline DNA was sequenced to identify mutations. Results Deleterious mutations were identified in 14.6% of all patients. Of these, 11.2% had mutations in the BRCA1 (8.5%) and BRCA2 (2.7%) genes. Deleterious mutations in 15 other predisposition genes were detected in 3.7% of patients, with the majority observed in genes involved in homologous recombination, including PALB2 (1.2%) and BARD1, RAD51D, RAD51C, and BRIP1 (0.3% to 0.5%). Patients with TNBC with mutations were diagnosed at an earlier age (P < .001) and had higher-grade tumors (P = .01) than those without mutations. Conclusion Deleterious mutations in predisposition genes are present at high frequency in patients with TNBC unselected for family history of cancer. Mutation prevalence estimates suggest that patients with TNBC, regardless of age at diagnosis or family history of cancer, should be considered for germline genetic testing of BRCA1 and BRCA2. Although mutations in other predisposition genes are observed among patients with TNBC, better cancer risk estimates are needed before these mutations are used for clinical risk assessment in relatives. PMID:25452441

  15. Mortality in Adult Offspring of Immigrants: A Swedish National Cohort Study

    PubMed Central

    Manhica, Hélio; Toivanen, Susanna; Hjern, Anders; Rostila, Mikael

    2015-01-01

    Background Higher risks of psychiatric disorders and lower-than-average subjective health in adulthood have been demonstrated in offspring of immigrants in Sweden compared with offspring of native Swedes, and linked to relative socioeconomic disadvantage. The present study investigated mortality rates in relation to this inequity from a gender perspective. Methods We used data from national registers covering the entire Swedish population aged 18-65 years. Offspring of foreign-born parents who were either Swedish born or had received residency in Sweden before school age (<7 years) were defined as “offspring of immigrants.” We used Cox regression models to examine the association between parental country of birth and mortality between 1990 and 2008, with adjustment for education, income, age and family type. Results Male offspring of immigrants from the Middle East (HR:2.00, CI:1.66-2.26), other non-European countries (HR:1.80, CI:1.36-2.36) and Finland (HR:1.56, CI:1.48-1.65) showed an age-adjusted excess mortality risk from all causes of death when compared to offspring with Swedish-born parents. Income, but not education, greatly attenuated these increased mortality risks. No excess mortality rates were found among female offspring of immigrants, with the exception of external cause of death among offspring of Finnish immigrants. Conclusion The study demonstrates high mortality rates in male offspring of immigrants from Finland and non-European countries that are associated with economic, but not educational, disadvantage. No increased mortality rates were found among female offspring of immigrants. Future studies are needed to explain this gender differential and why income, but not education, predicts mortality in male offspring of immigrants. PMID:25706297

  16. Asteroid families

    NASA Astrophysics Data System (ADS)

    Nesvorný, David; Bottke, William F.; Vokrouhlický, David; Morbidelli, Alessandro; Jedicke, Robert

    An asteroid family is a group of asteroids with similar orbits and spectra that was produced by a collisional breakup of a large parent body. To identify asteroid families, researchers look for clusters of asteroid positions in the space of proper orbital elements. These elements, being more constant over time than osculating orbital elements, provide a dynamical criterion of whether a group of bodies has a common ancestor. More than fifty asteroid families have been identified to date. Their analysis produced several important insights into the physics of large scale collisions, dynamical processes affecting small bodies in the Solar System, and surface and interior properties of asteroids.

  17. 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.

  18. Increased cancer risk among Swedish female alcoholics.

    PubMed

    Sigvardsson, S; Hardell, L; Przybeck, T R; Cloninger, R

    1996-03-01

    We evaluated site-specific cancer risks in alcoholic women. We identified 15,508 alcoholic women from the records of the Temperance Boards in Sweden and obtained a comparison group by selecting for each alcoholic woman one female individual matched for region and day of birth. We obtained incidence data from the Swedish Cancer Registry. We found an increased relative risk (RR) for any cancer [RR = 1.6; 95% confidence interval (CI) = 1.5-1.8]; site-specific risks were increased for tongue (RR = 8.5; 95% CI = 2.0-37), mouth (RR = 12; 95% CI = 1.6-92), tonsil (RR = 11; 95% CI = 1.4-85), hypopharynx (RR = 9.0; 95% CI = 1.1-71), larynx (RR = 7.0; 95% CI = 0.9-57), liver (RR = 4.6; 95% CI = 1.8-12), pancreas (RR = 2.7; 95% CI = 1.6-4.6), lung (RR = 5.0; 95% CI = 3.3-7.5), breast (RR = 1.4; 95% CI = 1.2-1.7), cervix uteri (RR = 3.9; 95% CI = 2.8-5.4), and vulva, vagina, and unspecified female genital organs (RR = 4.0; 95% CI = 1.3-12). We found a decreased risk for malignant melanoma of the skin (RR = 0.5; 95% CI = 0.3-1.0). Since this was a register study, the results may be confounded by differences in smoking, dietary habits, and/or other factors in the cohort of alcoholic women and the comparison group.

  19. Multicentre patch testing with compositae mix by the Swedish Contact Dermatitis Research Group.

    PubMed

    Isaksson, Marléne; Hansson, Christer; Inerot, Annica; Lidén, Carola; Matura, Mihaly; Stenberg, Berndt; Möller, Halvor; Bruze, Magnus

    2011-05-01

    Sesquiterpene lactone mix detects contact allergy to these compounds present in the plant family Asteraceae. This marker is present in many baseline series. An additional marker is Compositae mix, which is not present in many baseline series. To investigate whether this allergen should be inserted into the Swedish baseline series, six dermatology centres representing the Swedish Contact Dermatitis Research Group included Compositae mix into their baseline series for 1.5 years. Of 2818 patients tested, 31 (1.1%) reacted to Compositae mix and 26 (0.9%) to Sesquiterpene lactone mix. Active sensitization to Compositae mix was noted in two cases. Only 0.4% of Asteraceae contact allergy cases would have been missed if Compositae mix had not been tested, a frequency too low to merit its inclusion in the baseline series. Due to obvious geographical differences in frequency in frequency of simultaneous allergic reactions to Compositae mix and Sesquiterpene lactone mix, the question as to whether specific baseline series (including Compositae mix or not as a "tail" substance) should be used in the different centres must be addressed. Another option could be to remove Sesquiterpene lactone mix from the baseline series and substitute it with Compositae mix.

  20. 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

  1. 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.

  2. Unexpected adverse childhood experiences and subsequent drug use disorder: a Swedish population study (1995–2011)

    PubMed Central

    Giordano, Giuseppe N.; Ohlsson, Henrik; Kendler, Kenneth S.; Sundquist, Kristina; Sundquist, Jan

    2014-01-01

    Aims Exposure to extraordinary traumatic experience is one acknowledged risk factor for drug use. We aim to analyse the influence of potentially life-changing childhood stressors, experienced second-hand, on later drug use disorder in a national population of Swedish adolescent and young adults (aged 15–26 years). Design We performed Cox Proportional Hazard regression analyses, complemented with co-relative pair comparisons. Setting Sweden Participants All individuals in the Swedish population born 1984 to 1995, who were registered in Sweden at the end of the calendar year they turned 14 years of age. Our follow-up time (Mean: 6.2 years; Range 11 years) started at the year they turned 15 and continued to December 2011 (N=1,409,218). Measurements Our outcome variable was drug use disorder, identified from medical, legal and pharmacy registry records. Childhood stressors, as per DSM-IV stressor criteria, include death of an immediate family member and second-hand experience of diagnoses of malignant cancer, serious accidental injury, and victim of assault. Other covariates include parental divorce, familial psychological well-being, and familial drug and alcohol use disorders. Findings After adjustment for all considered confounders, individuals exposed to childhood stressors ‘parental death’ or ‘parental assault’ had over twice the risk of drug use disorder than those who were not (HR = 2.63 (2.23–3.09) and 2.39 (2.06–2.79), respectively). Conclusions Children under 15 who experience second-hand an extraordinary traumatic event (such as a parent or sibling being assaulted, diagnosed with cancer, or dying) appear to have approximately twice the risk of developing a drug use disorder than those who do not. PMID:24612271

  3. Structural patterns in Swedish health policy: a 30-year perspective.

    PubMed

    Saltman, Richard B

    2015-04-01

    This perspective reviews key institutional and organizational patterns in Swedish health care over the last 30 years, probing the roots of several complicated policy questions that concern present-day Swedish decision-makers. It explores in particular the ongoing structural tension between stability, on the one hand, and the necessary levels of innovation and dynamism demanded by the current period of major clinical, technological, economic, social and supranational (EU) change. Where useful, the article compares Swedish developments with those in the other three European Nordic countries as well as other northern European health systems. Sweden's health sector evolution can provide valuable insight for other countries into the complexity involved in re-thinking tradeoffs between policies that emphasize stability as against those that encourage innovation in health sector governance and provision.

  4. Rearing of Swedish, Norwegian, and Norwegian Sami children.

    PubMed

    Larsson, E; Ogaard, B; Lindsten, R

    1993-12-01

    A total of 362 3-yr-old Swedish, Norwegian, and Norwegian Sami (Lapp) children were examined, and their parents were asked about their children's present and previous sucking habits and how long they had been breast-fed and bottle-fed. They were also asked what the children's age was when porridge or puréed food or food with a soft chewing resistance was introduced, and when more ordinary foods such as well-diced meat and potatoes were introduced. The study revealed that breast-feeding has increased greatly both in prevalence and in duration in Sweden during the last decades. Despite this, Swedish children were breast-fed for a significantly shorter time than Norwegian children. The longest breast-feeding times were noted for Sami children. Swedish children were bottle-fed two to three times longer than Norwegian children. Sucking habits were correlated to breast-feeding only for Sami children.

  5. A Preliminary Study of the Effects of a Single Session of Swedish Massage on Hypothalamic–Pituitary–Adrenal and Immune Function in Normal Individuals

    PubMed Central

    Schettler, Pamela; Bresee, Catherine

    2010-01-01

    Abstract Objectives Massage therapy is a multi–billion dollar industry in the United States with 8.7% of adults receiving at least one massage within the last year; yet, little is known about the physiologic effects of a single session of massage in healthy individuals. The purpose of this study was to determine effects of a single session of Swedish massage on neuroendocrine and immune function. It was hypothesized that Swedish Massage Therapy would increase oxytocin (OT) levels, which would lead to a decrease in hypothalamic–pituitary–adrenal (HPA) activity and enhanced immune function. Design The study design was a head-to-head, single-session comparison of Swedish Massage Therapy with a light touch control condition. Serial measurements were performed to determine OT, arginine-vasopressin (AVP), adrenal corticotropin hormone (ACTH), cortisol (CORT), circulating phenotypic lymphocytes markers, and mitogen-stimulated cytokine production. Setting This research was conducted in an outpatient research unit in an academic medical center. Subjects Medically and psychiatrically healthy adults, 18–45 years old, participated in this study. Intervention The intervention tested was 45 minutes of Swedish Massage Therapy versus a light touch control condition, using highly specified and identical protocols. Outcome measures The standardized mean difference was calculated between Swedish Massage Therapy versus light touch on pre- to postintervention change in levels of OT, AVP, ACTH, CORT, lymphocyte markers, and cytokine levels. Results Compared to light touch, Swedish Massage Therapy caused a large effect size decrease in AVP, and a small effect size decrease in CORT, but these findings were not mediated by OT. Massage increased the number of circulating lymphocytes, CD 25+ lymphocytes, CD 56+ lymphocytes, CD4 + lymphocytes, and CD8+ lymphocytes (effect sizes from 0.14 to 0.43). Mitogen-stimulated levels of interleukin (IL)–1ß, IL-2, IL-4, IL-5, IL-6, IL-10

  6. Prevalence, age at onset, and risk factors of self-reported asthma among Swedish adolescent elite cross-country skiers.

    PubMed

    Eriksson, L M; Irewall, T; Lindberg, Anne; Stenfors, Nikolai

    2017-03-17

    The objective of the study was to compare the prevalence of self-reported physician-diagnosed asthma and age at asthma onset between Swedish adolescent elite skiers and a reference group and to assess risk factors associated with asthma. Postal questionnaires were sent to 253 pupils at the Swedish National Elite Sport Schools for cross-country skiing, biathlon, and ski-orienteering ("skiers") and a random sample of 500 adolescents aged 16-20, matched for sport school municipalities ("reference"). The response rate was 96% among the skiers and 48% in the reference group. The proportion of participants with self-reported physician-diagnosed asthma was higher among skiers than in the reference group (27 vs. 19%, p = 0.046). Female skiers reported a higher prevalence of physician-diagnosed asthma compared to male skiers (34 vs. 20%, p = 0.021). The median age at asthma onset was higher among skiers (12.0 vs. 8.0 years; p < 0.001). Female sex, family history of asthma, nasal allergy, and being a skier were risk factors associated with self-reported physician-diagnosed asthma. Swedish adolescent elite cross-country skiers have a higher asthma prevalence and later age at asthma onset compared to a reference population. Being an adolescent elite skier is an independent risk factor associated with asthma. This article is protected by copyright. All rights reserved.

  7. Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

    PubMed Central

    Christensen, G. Bryce; Kim, Cecilia; Frackelton, Edward; Thomas, Kelly; da Silva, Renata Pellegrino; Stevens, Jeff; Baird, Lisa; Otterud, Brith; Ho, Karen; Varvil, Tena; Leppert, Tami; Lambert, Christophe G.; Leppert, Mark; Hakonarson, Hakon

    2013-01-01

    Structural variation is thought to play a major etiological role in the development of autism spectrum disorders (ASDs), and numerous studies documenting the relevance of copy number variants (CNVs) in ASD have been published since 2006. To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to identify 153 putative autism-specific CNVs present in 55 individuals with ASD from 9 multiplex ASD pedigrees. To evaluate the actual prevalence of these CNVs as well as 185 CNVs reportedly associated with ASD from published studies many of which are insufficiently powered, we designed a custom Illumina array and used it to interrogate these CNVs in 3,000 ASD cases and 6,000 controls. Additional single nucleotide variants (SNVs) on the array identified 25 CNVs that we did not detect in our family studies at the standard SNP array resolution. After molecular validation, our results demonstrated that 15 CNVs identified in high-risk ASD families also were found in two or more ASD cases with odds ratios greater than 2.0, strengthening their support as ASD risk variants. In addition, of the 25 CNVs identified using SNV probes on our custom array, 9 also had odds ratios greater than 2.0, suggesting that these CNVs also are ASD risk variants. Eighteen of the validated CNVs have not been reported previously in individuals with ASD and three have only been observed once. Finally, we confirmed the association of 31 of 185 published ASD-associated CNVs in our dataset with odds ratios greater than 2.0, suggesting they may be of clinical relevance in the evaluation of children with ASDs. Taken together, these data provide strong support for the existence and application of high-impact CNVs in the clinical genetic evaluation of children with ASD. PMID:23341896

  8. Word Order Errors. Swedish-English Contrastive Studies, Report No. 2.

    ERIC Educational Resources Information Center

    Carlbom, Ulla

    The materials employed in this investigation were 769 translations from Swedish into English made by Swedish university students studying English. The principal objective was to study aspects of learner behavior (in treating English word order) to obtain information about the types of errors Swedish students commit in English production and…

  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. Simian virus 40-like DNA sequences and large-T antigen-retinoblastoma family protein pRb2/p130 interaction in human mesothelioma.

    PubMed

    Mutti, L; De Luca, A; Claudio, P P; Convertino, G; Carbone, M; Giordano, A

    1998-01-01

    The oncoprotein of the Simian virus 40, SV40 large T-antigen (Tag), is reported to target and inactivate growth-suppressive proteins such as the retinoblastoma (Rb) family and p53 leading to transformation of human cell lines in vitro, to produce tumours in rodents, and to be detected in several human cancers including mesothelioma. In support of the potential role of SV40 Tag in the pathogenesis of certain human cancers, we have found SV40-like sequences in 8/25 bioptic specimens of mesothelioma from patients with exposure to asbestos fibres. We have also demonstrated that the SV40 Tag detected in human mesothelioma binds the retinoblastoma family protein pRb2/p130 in 5/5 specimens studied. We submit that the tumorigenic potential of SV40 Tag in some human mesotheliomas may arise from its ability to interact with and thereby inactivate several tumour and/or growth suppressive proteins in cooperation with asbestos fibres in inducing pleural mesothelioma.

  11. Evidence for a major susceptibility locus at 11q22.1-23.3 has been detected in a large Chinese family with pure grand mal epilepsy.

    PubMed

    Yang, Mao Sheng; Wang, Xue Feng; Qin, Wei; Feng, Guo Yin; He, Lin

    2003-08-07

    Pure grand mal epilepsy (PGME) is a common subtype of idiopathic generalized epilepsy (IGE) with an unclear mode of inheritance. Several studies with the multiple families have provided evidence for the disorder to be linked to chromosome 8q24 and 8p. In this work, we performed an autosomal-wide scan linkage analysis using microsatellite markers in a large Chinese family with PGME and found seven markers with likelihood of odds (LOD), scores >/=1.0 (theta=0) in chromosome 11q22.1-23.3. The highest LOD score for two-point and multi-point linkage analysis are 1.99 (theta=0) at marker D11S4159 and 2.18 between markers D11S1782 and D11S3178, respectively, which reached the level of a suggested positive linkage LOD score (Z>/=1.9), under an autosomal dominant manner of inheritance with a penetrance of 65% but no significant positive LOD score (Z>/=3.3) was found after high density of microsatellite markers used in the regions. Obviously, our data do not support the linkage of the disease to chromosome 8q24 and 8p but implicate that chromosome 11q22.1-23.3 may be a new locus linked to PGME, which indicates the existence of genetic heterogeneity in the disorder.

  12. A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

    PubMed

    Lv, Dan; Luo, Yang; Yang, Wei; Cao, Lihua; Wen, Yaran; Zhao, Xiuli; Sun, Miao; Lo, Wilson H-Y; Zhang, Xue

    2009-07-01

    Mutations in ROR2, encoding the receptor tyrosine kinase-like orphan receptor 2, cause two distinct skeletal diseases: autosomal dominant brachydactyly type B1 (BDB1) and autosomal recessive Robinow syndrome. In a large Chinese family with a limb phenotype, consisting of atypical BDB1 and cutaneous syndactyly of varying degrees, we performed a two-point linkage analysis using microsatellite markers on 2q33-q37 and 9q22.31, and found a significant linkage to the ROR2 locus. We identified a novel single-base deletion in ROR2, c.2243delC (p.W749fsX24), and confirmed its segregation with the limb phenotype in the family. This deletion is predicted to produce a truncated ROR2 protein with an additional C-terminal polypeptide of 24 amino-acid residues. To the best of our knowledge, the deletion represents the second ROR2 mutation associated with a BDB1-syndactyly phenotype.

  13. 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.

  14. Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

    PubMed

    Pileggi, Silvana; Buscone, Serena; Ricci, Claudia; Patrosso, Maria Cristina; Marocchi, Alessandro; Brunori, Paola; Battistini, Stefania; Penco, Silvana

    2010-10-01

    Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in seizures, haemorrhage, recurrent headaches and focal neurologic deficit. CCMs can occur as an autosomal dominant trait with incomplete penetrance and a wide phenotypic variability. The genes responsible for this disease are KRIT1/CCM1 on chromosome 7q21.2, MGC4607/CCM2 on chromosome 7p15-p13 and PDCD10/CCM3 on chromosome 3q25.2-q27. Mutations in KRIT1/CCM1 account for more than 40% of CCMs. We previously reported a CCM family harbouring the KRIT1/CCM1 1204delAACAA mutation. In order to search for possible explanation of the clinical variability observed, we looked for genetic variation within exons and exon/intron regions in the three genes KRIT1, MGC4607 and PDCD10 associated to the disease within this large family, 23 subjects have been analysed. Identified genetic variations in the three genes are here presented. We believe that genetic variations could interfere with the proper CCM1/CCM2/CCM3 protein complex thus explaining the observed clinical variability.

  15. 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.

  16. 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.

  17. 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

  18. Bioaccumulation of decamethylcyclopentasiloxane in perch in Swedish lakes.

    PubMed

    Kierkegaard, Amelie; Bignert, Anders; McLachlan, Michael S

    2013-10-01

    Decamethylcyclopentasiloxane (D5), a high production volume chemical used in personal care products, enters the environment both via air and sewage treatment plant (STP) recipients. It has been found in fish, and there is concern that it may be a bioaccumulative substance. In this work D5 was analyzed in perch from six Swedish lakes that did not receive STP effluent, and in perch and sediment from six lakes that received STP effluent. In the lakes receiving the STP effluent, the D5 concentrations in sediment varied over three orders of magnitude and were correlated with the number of persons connected to the STP normalized to the surface area of the receiving body. In the lakes not receiving effluent, the D5 levels in perch were all below the LOQ, while D5 was above the LOQ in almost all perch from lakes that received effluent. The D5 concentrations in perch and sediment from the lakes receiving STP effluent were correlated. This shows that STP effluent is a much more important source of D5 to aquatic ecosystems than atmospheric deposition, and that the risk of adverse effects of D5 on aquatic life will be greatest in small recipients receiving large amounts of STP effluent. The bioaccumulation of D5 was compared to that of PCB 180 on the basis of multimedia bioaccumulation factors (mmBAFs), which describe the fraction of the contaminant present in the whole aquatic environment (i.e. water and surface sediment) that is transferred to the fish. In four of the six lakes the mmBAF of D5 was >0.3 of the mmBAF of PCB 180. Given that PCB 180 is a known highly bioaccumulative chemical, this indicates that the bioaccumulation of D5 in perch is considerable.

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

    PubMed Central

    Roca, Alberto I; Almada, Albert E; Abajian, Aaron C

    2008-01-01

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

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

    PubMed Central

    2010-01-01

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

  1. 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.

  2. The Clinical Profile of Subjects Included in the Swedish National Register on Individuals with Severe Alpha 1-Antitrypsin deficiency.

    PubMed

    Piitulainen, Eeva; Tanash, Hanan A

    2015-05-01

    The Swedish national register of severe alpha1-antitrypsin (AAT) deficiency was established in 1991. The main aims are to prospectively study the natural history of severe AAT deficiency, and to improve the knowledge of AAT deficiency. The inclusion criteria in the register are age ≥ 18 years, and the PiZ phenotype diagnosed by isoelectric focusing. The register is kept updated by means of repeated questionnaires providing data to allow analysis of the mode of identification, lung and liver function, smoking-habits, respiratory symptoms and diagnoses as reported by physicians. Until February 2014, a total of 1553 PiZZ individuals had been included in the register. The 1102 subjects still alive constituted about 20% of the adult PiZZ individuals in Sweden. Forty-three percent of the subjects had been identified during investigation of respiratory symptoms, 7% by an investigation of liver disease, 26% in an investigation of other pathological conditions, and 24% in a population or family screening. Forty five percent of the subjects had never smoked, 47% were ex-smokers, and 8% current smokers. Twenty-eight percent of the never-smokers, 72% of the ex-smokers, and 61% of the current smokers fulfilled the criteria for COPD with a FEV1/FVC ratio of <0.70. Among the 451 deceased, the most common cause of death was respiratory diseases (55%), followed by liver diseases (13%). We conclude that the detection rate of severe AAT deficiency is relatively high in Sweden. Large numbers of subjects are identified for other reasons than respiratory symptoms, and the majority of these have never smoked.

  3. 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.

  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. 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…

  6. 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…

  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…

  8. 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…

  9. Dental claims in the Swedish Patient Insurance Scheme.

    PubMed

    René, N; Owall, B; Cronström, R

    1991-06-01

    The Swedish Patient Insurance Scheme covers treatment injuries and guarantees the replacement of failed removable prostheses for 1 year and fixed prostheses for 2 years after fitting. In this paper, 573 dental cases are analysed for a 3-month period in 1986, during which crowns and bridges formed the vast majority of failed treatments that were reported.

  10. 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.

  11. The Swedish Armed Forces Operational Challenges for Command and Control

    DTIC Science & Technology

    2010-02-01

    Language Workshop (Atelier 2010 sur le langage de gestion du champ de bataille pour les operations en coalition). RTO-MP-MSG-079 14. ABSTRACT 15. SUBJECT...NATO procedures Crises Response scenario (BOGALAND) including NATO- and EU-led operations HEADQUARTERS SWEDISH ARMED FORCES VIKING 11

  12. 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…

  13. 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.

  14. 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…

  15. 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.

  16. 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.…

  17. 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…

  18. On the "Vulnerability" of Syntactic Domains in Swedish and German

    ERIC Educational Resources Information Center

    Bohnacker, Ute

    2007-01-01

    This article investigates the L2 acquisition of clausal syntax in postpuberty learners of German and Swedish regarding V2, VP headedness, and verb particle constructions. The learner data are tested against L2 theories according to which lower structural projections (VP) are acquired before higher functional projections (IP, CP), VP syntax is…

  19. Classification of Swedish Learner Essays by CEFR Levels

    ERIC Educational Resources Information Center

    Volodina, Elena; Pilán, Ildikó; Alfter, David

    2016-01-01

    The paper describes initial efforts on creating a system for the automatic assessment of Swedish second language (L2) learner essays from two points of view: holistic evaluation of the reached level according to the Common European Framework of Reference (CEFR), and the lexical analysis of texts for receptive and productive vocabulary per CEFR…

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. 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)

  7. 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…

  8. 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…

  9. 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…

  10. 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…

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

    PubMed Central

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

    2016-01-01

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

  12. 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…

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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…

  20. Family-Friendly Policies and Gender Bias in Academia

    ERIC Educational Resources Information Center

    Mayer, Audrey L.; Tikka, Paivi M.

    2008-01-01

    Several recent reports on the status of women in US academic institutions have recommended more generous family policies to encourage and retain more women among academic staffs. Many of the policies suggested are modelled on those that have been in effect in Nordic countries for decades. The status of women among Finnish and Swedish academic…

  1. Increasing rates of brain tumours in the Swedish national inpatient register and the causes of death register.

    PubMed

    Hardell, Lennart; Carlberg, Michael

    2015-04-03

    Radiofrequency emissions in the frequency range 30 kHz-300 GHz were evaluated to be Group 2B, i.e., "possibly", carcinogenic to humans by the International Agency for Research on Cancer (IARC) at WHO in May 2011. The Swedish Cancer Register has not shown increasing incidence of brain tumours in recent years and has been used to dismiss epidemiological evidence on a risk. In this study we used the Swedish National Inpatient Register (IPR) and Causes of Death Register (CDR) to further study the incidence comparing with the Cancer Register data for the time period 1998-2013 using joinpoint regression analysis. In the IPR we found a joinpoint in 2007 with Annual Percentage Change (APC) +4.25%, 95% CI +1.98, +6.57% during 2007-2013 for tumours of unknown type in the brain or CNS. In the CDR joinpoint regression found one joinpoint in 2008 with APC during 2008-2013 +22.60%, 95% CI +9.68, +37.03%. These tumour diagnoses would be based on clinical examination, mainly CT and/or MRI, but without histopathology or cytology. No statistically significant increasing incidence was found in the Swedish Cancer Register during these years. We postulate that a large part of brain tumours of unknown type are never reported to the Cancer Register. Furthermore, the frequency of diagnosis based on autopsy has declined substantially due to a general decline of autopsies in Sweden adding further to missing cases. We conclude that the Swedish Cancer Register is not reliable to be used to dismiss results in epidemiological studies on the use of wireless phones and brain tumour risk.

  2. Increasing Rates of Brain Tumours in the Swedish National Inpatient Register and the Causes of Death Register

    PubMed Central

    Hardell, Lennart; Carlberg, Michael

    2015-01-01

    Radiofrequency emissions in the frequency range 30 kHz–300 GHz were evaluated to be Group 2B, i.e., “possibly”, carcinogenic to humans by the International Agency for Research on Cancer (IARC) at WHO in May 2011. The Swedish Cancer Register has not shown increasing incidence of brain tumours in recent years and has been used to dismiss epidemiological evidence on a risk. In this study we used the Swedish National Inpatient Register (IPR) and Causes of Death Register (CDR) to further study the incidence comparing with the Cancer Register data for the time period 1998–2013 using joinpoint regression analysis. In the IPR we found a joinpoint in 2007 with Annual Percentage Change (APC) +4.25%, 95% CI +1.98, +6.57% during 2007–2013 for tumours of unknown type in the brain or CNS. In the CDR joinpoint regression found one joinpoint in 2008 with APC during 2008–2013 +22.60%, 95% CI +9.68, +37.03%. These tumour diagnoses would be based on clinical examination, mainly CT and/or MRI, but without histopathology or cytology. No statistically significant increasing incidence was found in the Swedish Cancer Register during these years. We postulate that a large part of brain tumours of unknown type are never reported to the Cancer Register. Furthermore, the frequency of diagnosis based on autopsy has declined substantially due to a general decline of autopsies in Sweden adding further to missing cases. We conclude that the Swedish Cancer Register is not reliable to be used to dismiss results in epidemiological studies on the use of wireless phones and brain tumour risk. PMID:25854296

  3. Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder.

    PubMed

    Zhang, Zhiqun; Kong, Zhuqing; Zhu, Miao; Lu, Wenxiang; Ni, Lei; Bai, Yunfei; Lou, Yue

    2016-10-01

    The aim of this study was to characterize a previously uncharacterized genetic disorder associated with equinus deformity in a large Chinese family at the genetic level. Blood samples were obtained and whole genome sequencing was performed. Differential gene variants were identified and potential impacts on protein structure were predicted. Based on the control sample, several diseases associated variants were identified and selected for further validation. One of the potential variants identified was a ANXA3 gene [chr4, c.C820T(p.R274*)] variant. Further bioinformatic analysis showed that the observed mutation could lead to a three-dimensional conformational change. Moreover, a MTHFR variant that is different from variants associated with clubfoot was also identified. Bioinformatic analysis showed that this mutation could alter the protein binding region. These findings imply that this uncharacterized genetic disorder is not clubfoot, despite sharing some similar symptoms. Furthermore, specific CNV profiles were identified in association with the diseased samples, thus further speaking to the complexity of this multigenerational disorder. This study examined a previously uncharacterized genetic disorder appearing similar to clubfoot and yet having distinct features. Following whole genome sequencing and comparative analysis, several differential gene variants were identified to enable a further distinction from clubfoot. It is hoped that these findings will provide further insight into this disorder and other similar disorders.

  4. Comparative Analysis of P450 Signature Motifs EXXR and CXG in the Large and Diverse Kingdom of Fungi: Identification of Evolutionarily Conserved Amino Acid Patterns Characteristic of P450 Family

    PubMed Central

    Syed, Khajamohiddin; Mashele, Samson Sitheni

    2014-01-01

    Cytochrome P450 monooxygenases (P450s) are heme-thiolate proteins distributed across the biological kingdoms. P450s are catalytically versatile and play key roles in organisms primary and secondary metabolism. Identification of P450s across the biological kingdoms depends largely on the identification of two P450 signature motifs, EXXR and CXG, in the protein sequence. Once a putative protein has been identified as P450, it will be assigned to a family and subfamily based on the criteria that P450s within a family share more than 40% homology and members of subfamilies share more than 55% homology. However, to date, no evidence has been presented that can distinguish members of a P450 family. Here, for the first time we report the identification of EXXR- and CXG-motifs-based amino acid patterns that are characteristic of the P450 family. Analysis of P450 signature motifs in the under-explored fungal P450s from four different phyla, ascomycota, basidiomycota, zygomycota and chytridiomycota, indicated that the EXXR motif is highly variable and the CXG motif is somewhat variable. The amino acids threonine and leucine are preferred as second and third amino acids in the EXXR motif and proline and glycine are preferred as second and third amino acids in the CXG motif in fungal P450s. Analysis of 67 P450 families from biological kingdoms such as plants, animals, bacteria and fungi showed conservation of a set of amino acid patterns characteristic of a particular P450 family in EXXR and CXG motifs. This suggests that during the divergence of P450 families from a common ancestor these amino acids patterns evolve and are retained in each P450 family as a signature of that family. The role of amino acid patterns characteristic of a P450 family in the structural and/or functional aspects of members of the P450 family is a topic for future research. PMID:24743800

  5. Internationalizing the Universities: A Swedish Approach. Summary of a Preliminary Report from the Internationalization Committee of the Office of the Chancellor of the Swedish Universities.

    ERIC Educational Resources Information Center

    Office of the Chancellor of the Swedish Universities, Stockholm.

    In an effort to internationalize Swedish universities, a committee was established to examine the approach to achieve this goal in light of the present system of education. Chapter one concerns the Swedish educational system, emphasizing primary and secondary education, the universities and professional schools, education at the universities and…

  6. The reproduction of gender: housework and attitudes towards gender equality in the home among Swedish boys and girls.

    PubMed

    Evertsson, Marie

    2006-09-01

    The housework Swedish girls and boys age 10 to 18 do, and their attitudes towards gender equality in the home are studied. One aim is to see whether the work children do is gendered and if so, whether they follow their parents', often gendered, pattern in housework. A second aim is to see whether children's attitudes are influenced by their parents' attitudes and practices. When it comes to issues like these, Sweden is of special interest because in 1995, Sweden was appointed the most gender equal country in the world by the United Nations. The data used were the Swedish Child Level of Living Survey 2000 (see http://www.sofi.su.se/LNU2000/english.htm), a data set that includes extensive first-hand information from both children and their parents. The results indicate that girls and boys in two-parent families are more prone to engage in gender atypical work the more their parent of the same sex engages in this kind of work. The fact that girls still do more housework than boys in all families independent of, among other things, the parental division of housework and the mother's educational level indicates that housework to some extent signifies gender also to children. However, no clear relation is found between the parents' division of work and the child's attitude towards gender equality in the home. Neither is there any clear relation between the parents' attitude towards gender equality in the home and the children's attitude to the same topic.

  7. 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

  8. 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.

  9. Nurses Contribution to Swedish eHealth Strategy.

    PubMed

    Törnvall, Eva

    2012-01-01

    In 2005 the Swedish government identified the need of common development of information and communication technology in health and social care. The purpose of this paper is to describe nurses' contribution to the establishment of a national cooperation concerning eHealth development in health and social care. The Swedish strategy of eHealth have six actions areas eServices for accessibility and empowerment, Usable and accessible information (for staff), Knowledge management, innovation and learning, Creating a common technical infrastructure, Creating a common information structure and Bringing laws and regulations into line with extended use of ICT. Nurses are involved in all action areas and emphasize the empowerment and safety of the patient and account of ethical values. Patients' possibility to take part of the information and adding information in their own patient health record, nurses' education and safe IT support in medication are areas that need further development.

  10. 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.

  11. Impacts of foreign direct investment on efficiency in Swedish manufacturing.

    PubMed

    Svedin, Dick; Stage, Jesper

    2016-01-01

    A number of studies have found that foreign direct investment (FDI) can have positive impacts on productivity. However, while FDI has clearly positive impacts on technology transfers, its effects on resource use within firms is less clear and, in principle, efficiency losses might offset some of the productivity gains associated with improved technologies. In this paper, we study the impacts of FDI on efficiency in Swedish manufacturing. We find that foreign ownership has positive impacts on efficiency, supporting the earlier findings on productivity.

  12. Sleep disturbances among Swedish soldiers after military service abroad.

    PubMed

    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.

  13. [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.

  14. 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.

  15. 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.

  16. 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.

  17. 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

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

    PubMed

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

    2013-02-01

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

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. Birth order and suicide in adulthood: evidence from Swedish population data.

    PubMed

    Rostila, Mikael; Saarela, Jan; Kawachi, Ichiro

    2014-06-15

    Each year, almost 1 million people die from suicide, which is among the leading causes of death in young people. We studied how birth order was associated with suicide and other main causes of death. A follow-up study based on the Swedish population register was conducted for sibling groups born from 1932 to 1980 who were observed during the period 1981-2002. Focus was on the within-family variation in suicide risk, meaning that we studied sibling groups that consisted of 2 or more children in which at least 1 died from suicide. These family-fixed effects analyses revealed that each increase in birth order was related to an 18% higher suicide risk (95% confidence interval (CI): 1.14, 1.23, P = 0.000). The association was slightly lower among sibling groups born in 1932-1955 (hazard ratio = 1.13, 95% CI: 1.06, 1.21, P = 0.000) than among those born in 1967-1980 (hazard ratio = 1.24, 95% CI: 0.97, 1.57, P = 0.080). Further analyses suggested that the association between birth order and suicide was only modestly influenced by sex, birth spacing, size of the sibling group, own socioeconomic position, own marital status, and socioeconomic rank within the sibling group. Causes of death other than suicide and other external causes were not associated with birth order.

  4. Sebaceous adenitis in Swedish dogs, a retrospective study of 104 cases

    PubMed Central

    Hernblad Tevell, Elisabeth; Bergvall, Kerstin; Egenvall, Agneta

    2008-01-01

    Background Sebaceous adenitis (SA) is an uncommon, immune mediated skin disease in dogs. The aim was to retrospectively investigate SA in dogs in Sweden with respect to breed, sex and age distribution. A second aim was to retrospectively compare clinical signs in dogs with generalized SA and to estimate the survival after diagnosis in the English springer spaniel, standard poodle and the akita. Methods In total 34 Swedish veterinarians contributed with 104 clinically and histologically verified SA cases. Breed, gender and age at diagnosis were registered for each case. The degree of clinical signs at time for diagnosis and at follow-up and information about treatments, concurrent diseases and euthanasia were recorded for the springer spaniels, standard poodles and akitas using a standardized questionnaire. Results A total of 104 cases of SA were included; most cases were recorded for the springer spaniel (n = 25), standard poodle (n = 21) and the akita (n = 10). These three breeds, together with the lhasa apso and the chow-chow, were the most common when national registry data from the Swedish Board of Agriculture and Swedish Kennel Club were considered. The mean age at diagnosis was 4.8 years. The proportion of males was 61%. When the springer spaniels, standard poodles and the akitas with generalized signs were compared (n = 51), the spaniels showed significantly more severe clinical signs than the poodles at diagnosis regarding alopecia, seborrhoea, pyoderma and the overall severity of clinical signs. At follow-up, the degree of clinical signs for otitis externa and pyoderma differed significantly between the breeds. The estimated median survival time was 42 months. In dogs where data regarding survival was available at the end of the study (n = 44), SA was reported to be the reason for euthanasia in 14 dogs, whereof 7 within 24 months after diagnosis. Conclusion The result of this study implicates that the English springer spaniel is a breed predisposed to SA

  5. 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.

  6. Family welfare.

    PubMed

    Sinha, N K

    1992-01-01

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

  7. 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

  8. The case of the Swedish-speaking Finns

    NASA Astrophysics Data System (ADS)

    Andersson, Hákan; Herberts, Kjell

    1996-07-01

    It has often beeen stated that the Swedish-speaking population in Finland, compared to other linguistic minorities, has achieved a privileged position. Historically the Finnish nation-state was born and grew by the efforts of both language groups, and the constitution was influenced by this unity. The geopolitical situation has gained from the fact that the resources of the whole population have been taken into account in the development of the Finnish nation and state, located in a Northern Europe, where, for centuries, different political, cultural and religions forces have met. The fact that the Orthodox Church together with the predominant Lutheran Church became the state church is another example of the efforts of the young Finnish state to both integrate and mobilize the personal resources. Regarding the future it will be wise to support specific traditions, competencies and creative forces from the whole population. The education, rooted in a language and a specific culture can, in such a perspective, probably not be overevaluated. From the Swedish point of view it is therefore of the greatest importance to maintain fundamental guarantees for a Swedish-speaking education. Only far-going guarantees liberate creative resources for the future challenges nationally and above all internationally. Otherwise too much energy and interest will be needed to guard the specific and in itself justified interests. Today, when the economic prerequisites in a welfare state are not taken for granted it is by all means a wise policy to defend the approved strategy to at the same time integrate and mobilize the total resources from different groups in the society.

  9. 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

  10. 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

  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. PMID:27616895

  12. 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…

  13. 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…

  14. 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…

  15. 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,…

  16. 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…

  17. 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…

  18. 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…

  19. 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…

  20. 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…

  1. Gender and Prestige in Swedish Academia: Exploring Senior Management in Universities and University Colleges

    ERIC Educational Resources Information Center

    Peterson, Helen

    2017-01-01

    This article highlights the multifaceted character of the Swedish higher education sector and investigates senior academic management positions from a gender perspective using theories about an academic prestige economy and academic capitalism. The focus is on an aspect often overseen in research on Swedish academia: the distinction between…

  2. The Swedish National Diabetes Register in clinical practice and evaluation in primary health care.

    PubMed

    Hallgren Elfgren, Ing-Marie; Grodzinsky, Ewa; Törnvall, Eva

    2016-11-01

    Aim The purpose of this project is to describe the use of the Swedish National Diabetes Register (NDR) in clinical practice in a Swedish county and to specifically monitor the diabetes care routines at two separate primary health-care centres (PHCC) with a special focus on older patients.

  3. 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…

  4. 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…

  5. 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…

  6. The Changing Nature of Autonomy: Transformations of the Late Swedish Teaching Profession

    ERIC Educational Resources Information Center

    Wermke, Wieland; Forsberg, Eva

    2017-01-01

    This article discusses teacher autonomy in the case of the Swedish teaching profession since the 1980s. It is argued that deregulation, decentralization, and marketization reforms of the 1990s have indeed increased teacher autonomy, but in some respects also led to a increase of complexity in the Swedish school system. In order to handle this…

  7. 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…

  8. 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…

  9. 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…

  10. 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…

  11. 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…

  12. The Swedish Experiment with Localised Control of Time Schedules: Policy Problem Representations

    ERIC Educational Resources Information Center

    Ronnberg, Linda

    2007-01-01

    Swedish compulsory schools are the most autonomous in Europe regarding time allocation and time management. Still, the Swedish state decided to take this even further, when introducing an experiment that permits some compulsory schools to abandon the regulations of the national time schedule. The aim of this study is to explore and analyse the…

  13. 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…

  14. 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…

  15. 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

  16. Prevalence of dental resorptive lesions in Swedish cats.

    PubMed

    Pettersson, A; Mannerfelt, T

    2003-09-01

    Ninety-six, randomly selected Swedish cats were evaluated for the presence of dental resorptive lesions. All cats were examined while receiving general anesthesia. Diagnosis was based on oral examination and full-mouth, intraoral dental radiographs. Information concerning age, sex, vaccination status, eating habits, food type, environment (indoor or outdoor housing), oral, discomfort, dental care, and medical treatment was recorded. Hematologic samples included analysis for FeLV, FIV, and calcivirus. Of the cats examined in this study, 32% had gross or radiographic signs of dental resorptive lesions. There was a positive relationship between the occurrence of dental resorptive lesions and increasing age.

  17. From National Policy-Making to Global Edu-Business: Swedish Edu-Preneurs on the Move

    ERIC Educational Resources Information Center

    Rönnberg, Linda

    2017-01-01

    This study explores the movements of some Swedish former education policy-makers that are currently active as commercial edu-business actors with the ambition to expand in the Global Education Industry (GEI). The aim is to map and analyze how a selection of Swedish edu-preneurs affiliated with a particular Swedish school chain enter the GEI and…

  18. Structure-activity relationships of a novel group of large-conductance Ca(2+)-activated K(+) (BK) channel modulators: the GoSlo-SR family.

    PubMed

    Roy, Subhrangsu; Morayo Akande, Adebola; Large, Roddy J; Webb, Tim I; Camarasu, Costin; Sergeant, Gerard P; McHale, Noel G; Thornbury, Keith D; Hollywood, Mark A

    2012-10-01

    Opening up ion channels: We synthesised a series of anthraquinone analogues, called the GoSlo-SR family. Their effects on bladder smooth muscle BK channels were examined and, as shown, shifted voltage dependent activation >-100 mV (at 10 μM). They were more efficacious than NS11021 and could provide a new scaffold for the design of efficacious BK openers.

  19. 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,…

  20. The causes of parent–offspring transmission of drug abuse: a Swedish population-based study

    PubMed Central

    Kendler, K. S.; Ohlsson, H.; Sundquist, K.; Sundquist, J.

    2014-01-01

    Background While drug abuse (DA) is strongly familial, we still have limited knowledge about the causes of its cross-generational transmission. Method We examined DA ascertained from national registers in offspring of three family types from the Swedish population [intact (n=2111074), ‘not-lived-with’ (n = 165315, where biological parents never lived with their offspring) and ‘step’ (n = 124800 offspring)], which reflected, respectively, the effects of genes+rearing, genes only and rearing only. We replicated these results in three high-risk co-relative designs. Results Combined across mothers and fathers, the hazard ratio (HR) for DA in offspring given DA in parents was 3.52 in intact, 2.73 in ‘not-lived-with’ and 1.79 in stepfamilies. In 968 biological full or half-sibling pairs one of whom was reared by and the other never lived with their parent with DA, the HR for DA was greater in the reared than ‘not-lived-with’ child (HR 1.57). In 64 offspring pairs of a parent with DA, the HR for DA was greater in a reared biological v. step-parented non-biological child (HR 3.33). In 321 pairs of offspring of a parent with DA one of whom was a not-lived-with biological child and the second a step-parented non-biological child, the HR for DA was greater in the biological v. stepchild (HR 1.80). Conclusions Both genetic and environmental factors contribute substantially to parent–offspring resemblance for DA. The general population contains informative family constellations that can complement more traditional adoption designs in clarifying the sources of parent–offspring resemblance. PMID:25066684

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

    PubMed Central

    2014-01-01

    Purpose Stigma towards people with mental illness is believed to be widespread in low and middle income countries. Methods This study assessed the attitudes towards people with mental illness among psychiatrists, psychiatric nurses, involved family members of patients in a psychiatric facility and the general public using a standard 43-item survey (N = 535). Exploratory factor analysis identified four distinctive attitudes which were then compared using Analysis of Covariance (ANCOVA) among the four groups, all with ties to the largest psychiatric facility in Guangzhou, China, adjusting for sociodemographic differences. Results Four uncorrelated factors expressed preferences for 1) community-based treatment, social integration and a biopsychosocial model of causation, 2) direct personal relationships with people with mental illness, 3) a lack of fear and positive views of personal interactions with people with mental illness, 4) disbelief in superstitious explanations of mental illness. Statistically significant differences favored community-based treatment and biopsychosocial causation (factor 1) among professional groups (psychiatrists and nurses) as compared with family members and the general public (p < 0.001); while family members, unexpectedly, showed far weaker personal preferences for direct personal relationships with people with mental illness than all three other groups (p < 0.001). Conclusion Both psychiatrists and nurses showed greater support for social integration and biopsychosocial understandings of mental illness than the lay public, most likely because of their training and experience, while family members showed the least positive attitudes towards direct personal relationships with people with mental illness. These findings suggest support for a more extensive, formal system of care that gives family members some distance from the problems of their relatives and support in their care. PMID:25053975

  2. 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

  3. Experiences of Injuries and Injury Reporting among Swedish Skydivers.

    PubMed

    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.

  4. Students opinions about sex education in a Swedish school region.

    PubMed

    Lindell, M E; Olsson, H M

    1993-09-01

    Sex education has been a requirement in Swedish schools for the past 30 years. The purpose of the study was to describe the opinions of 17- and 18-year-old Swedish students at the upper secondary school regarding the sex education they received at school as well as their knowledge about the anatomy and physiology of reproduction. A questionnaire concerning education about sex and relationships was answered by 421 students. The results of questions regarding human reproduction illustrated that the students have insufficient knowledge about men's and women's reproductive organs. Two-thirds of the students who had received sex education thought the instructions were insufficient. The students wanted to talk more about positive and negative feelings within a relationship and feelings concerning sexually transmitted diseases and abortion. In summary, the results indicated that the content of sex education should focus on women's reproductive organs and the feelings and relationships between men and women. The type of instructions and how instruction time is utilized should be examined closely.

  5. 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.

  6. Comprehensive mass flow analysis of Swedish sludge contaminants.

    PubMed

    Olofsson, Ulrika; Brorström-Lundén, Eva; Kylin, Henrik; Haglund, Peter

    2013-01-01

    A screening of metals, persistent organic pollutants, pharmaceuticals and personal care products (PPCPs), and other organic contaminants in sludge from seven Swedish sewage treatment plants (STPs) was performed in this study. This extensive screening provides information on mass flows of 282 compounds used in the Swedish society to sewage sludge. It reveals constant relative contaminant concentrations (ng mg kg(-1) d.w.), except for some pesticides and perfluorinated compounds, indicating that these originate from broad usage and diffuse dispersion rather than (industrial) point sources. There was a five order of magnitude difference in the sum concentrations of the most and least abundant species (metals and polychlorinated dibenzo-p-dioxins and -furans, respectively). Lower total concentrations were found in sludge from STPs processing primarily food industry or household sewage. Proportions of the amounts used (in Sweden) found in sludge were lower for compounds that are present in consumer goods or are diffusely dispersed into the environment (0.01-1% recovered in sludge) than for compounds used as detergents or PPCPs (17-63%). In some cases, the recovery seemed to be affected by evaporation (e.g. octamethylcyclotetrasiloxane) or biotransformation (e.g. adipates) losses, while polychlorinated alkanes and brominated diphenyl ethers were recovered to disproportionately high degree (ca. 4%); likely due to incomplete statistics for imported goods.

  7. 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

  8. The Swedish marine nematologist Carl Allgén (1886-1960): a bio-bibliography and his collection.

    PubMed

    Boström, Sven; Holovachov, Oleksandr

    2017-02-20

    The Swedish marine nematologist Carl Allgén (1886-1960) published 185 scientific papers on parasitic, terrestrial, limnic and especially marine nematodes between 1921 and 1960. Among them are also some papers on species of suctorians found mostly on desmodorid nematodes. He described about 70 new genera and over 800 new species and subspecies of nematodes. Allgén left a large collection of nematodes to the Swedish Museum of Natural History in Stockholm and it is now deposited in the invertebrate collection of the Zoology department. The collection comprises about 4500 slides in total, with about 310 slides containing type specimens collected from the Arctic to Antarctica. Allgén's publications have to a large extent been ignored by scientists working on marine nematodes, likely because of the poor quality of many of his species descriptions. The authors want to remind the scientific community about the existence of Allgén's collection, its availability for study and its importance for nematode taxonomy and systematics. A complete list of Allgén's publications, a list of all species described by him, and a list of type material available is presented.

  9. A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD)

    PubMed Central

    Sokal, Izabela; Dupps, William J.; Grassi, Michael A.; Brown, Jeremiah; Affatigato, Louisa M.; Roychowdhury, Nirmalya; Yang, Lili; Filipek, Slawomir; Palczewski, Krzysztof; Stone, Edwin M.; Baehr, Wolfgang

    2005-01-01

    Purpose To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone–rod dystrophy (adCORD). Methods Twenty-three family members of a CORD pedigree underwent clinical examinations, including visual acuity tests, standardized full-field ERG, and fundus photography. Genomic DNA was screened for mutations in GCAP1 exons using DNA sequencing and single-strand conformational polymorphism (SSCP) analysis. Function and stability of recombinant GCAP1-L151F were tested as a function of [Ca2+], and its structure was probed by molecular dynamics. Results Affected family members experienced dyschromatopsia, hemeralopia, and reduced visual acuity by the second to third decade of life. Electrophysiology revealed a nonrecordable photopic response with later attenuation of the scotopic response. Affected family members harbored a C→T transition in exon 4 of the GCAP1 gene, resulting in an L151F missense mutation affecting the EF hand motif 4 (EF4). This change was absent in 11 unaffected family members and in 100 unrelated normal subjects. GCAP1-L151F stimulation of photoreceptor guanylate cyclase was not completely inhibited at high physiological [Ca2+], consistent with a lowered affinity for Ca2+-binding to EF4. Conclusions A novel L151F mutation in the EF4 hand domain of GCAP1 is associated with adCORD. The clinical phenotype is characterized by early cone dysfunction and a progressive loss of rod function. The biochemical phenotype is best described as persistent stimulation of photoreceptor guanylate cyclase, representing a gain of function of mutant GCAP1. Although a conservative substitution, molecular dynamics suggests a significant change in Ca2+-binding to EF4 and EF2 and changes in the shape of L151F-GCAP1. PMID:15790869

  10. Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1.

    PubMed

    Kelsell, D P; Black, D M; Bishop, D T; Spurr, N K

    1993-11-01

    We have analyzed a single multi-affected breast/ovarian cancer pedigree (BOV3) and have shown consistent inheritance of markers on chromosome 17q with the disease confirming that this family is due to the BRCA1 gene. Analysis of 17q haplotypes shows a recombination event in a bilateral breast cancer case which suggests that the BRCA1 gene lies distal to D17S857; D17S857 is thus the new proximal boundary for the region containing BRCA1. Combining this information with previously published mapping information suggests that BRCA1 is contained in a region estimated at 1-1.5 Mb in length. All seven breast tumour/blood pairs examined from this family show loss of heterozygosity in the tumours. The allel retained in each tumour was from the disease-bearing chromosome implicating BRCA1 as a tumour suppressor gene. We have sequenced the 17 beta-oestradiol dehydrogenase genes (EDH17B1 and EDH17B2) which have been suggested as candidate genes for BRCA1 in four members of this family. No germline mutations were detected.

  11. 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

  12. Family Therapy

    MedlinePlus

    Tests and Procedures Family therapy By Mayo Clinic Staff Family therapy is a type of psychological counseling (psychotherapy) that helps family members improve communication and resolve conflicts. Family therapy is usually provided ...

  13. Family Life

    MedlinePlus

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

  14. 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.

  15. 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

  16. Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n)

    PubMed Central

    Späth, P J; Sjöholm, A G; Nordin Fredrikson, G; Misiano, G; Scherz, R; Schaad, U B; Uhring-Lambert, B; Hauptmann, G; Westberg, J; Uhlén, M; Wadelius, C; Truedsson, L

    1999-01-01

    Properdin deficiency was demonstrated in three generations of a large Swiss family. The concentration of circulating properdin in affected males was < 0.1 mg/l, indicating properdin deficiency type I. Two of the nine properdin-deficient males in the family had survived meningitis caused by Neisseria meningitidis serogroup B without sequel. Two point mutations were identified when the properdin gene in one of the properdin-deficient individuals was investigated by direct solid-phase sequencing of overlapping polymerase chain reaction (PCR) products. The critical mutation was found at base 2061 in exon 4, where the change of cytosine to thymine had generated the stop codon TGA. The other mutation was positioned at base 827 in intron 3. The stop codon in exon 4 was also demonstrated by standard dideoxy sequencing in three additional family members. The question was asked if genetic factors such as partial C4 deficiency and IgG allotypes could have influenced susceptibility to meningococcal disease in the family. No relationship was found between C4 phenotypes and infection. Interestingly, the two properdin-deficient males with meningitis differed from the other properdin-deficient persons in that they lacked the G2m(n) allotype, a marker known to be associated with poor antibody responses to T-independent antigens. This implies that the consequences of properdin deficiency might partly be determined by independent factors influencing the immune response. PMID:10540191

  17. Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome.

    PubMed

    Cao, L H; Kuang, B H; Chen, C; Hu, C; Sun, Z; Chen, H; Wang, S S; Luo, Y

    2014-12-04

    Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, and pheochromocytoma. VHL is caused by mutations in the VHL tumor suppressor gene. We attempted to detect mutation in the VHL gene in a 5-generation Chinese family with VHL. We identified a novel small duplication that altered the reading frame downstream and created a premature TGA stop signal, resulting in severely truncated pVHL30 (p.Gly114Serfs*50) and pVHL19 (p.Gly61Serfs*50). This change was predicted to be an elongin-binding domain deletion.

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

    PubMed Central

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

    2004-01-01

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

  19. Large-Scale, Lineage-Specific Expansion of a Bric-a-Brac/Tramtrack/Broad Complex Ubiquitin-Ligase Gene Family in Rice[W

    PubMed Central

    Gingerich, Derek J.; Hanada, Kousuke; Shiu, Shin-Han; Vierstra, Richard D.

    2007-01-01

    Selective ubiquitination of proteins is directed by diverse families of ubiquitin-protein ligases (or E3s) in plants. One important type uses Cullin-3 as a scaffold to assemble multisubunit E3 complexes containing one of a multitude of bric-a-brac/tramtrack/broad complex (BTB) proteins that function as substrate recognition factors. We previously described the 80-member BTB gene superfamily in Arabidopsis thaliana. Here, we describe the complete BTB superfamily in rice (Oryza sativa spp japonica cv Nipponbare) that contains 149 BTB domain–encoding genes and 43 putative pseudogenes. Amino acid sequence comparisons of the rice and Arabidopsis superfamilies revealed a near equal repertoire of putative substrate recognition module types. However, phylogenetic comparisons detected numerous gene duplication and/or loss events since the rice and Arabidopsis BTB lineages split, suggesting possible functional specialization within individual BTB families. In particular, a major expansion and diversification of a subset of BTB proteins containing Meprin and TRAF homology (MATH) substrate recognition sites was evident in rice and other monocots that likely occurred following the monocot/dicot split. The MATH domain of a subset appears to have evolved significantly faster than those in a smaller core subset that predates flowering plants, suggesting that the substrate recognition module in many monocot MATH-BTB E3s are diversifying to ubiquitinate a set of substrates that are themselves rapidly changing. Intriguing possibilities include pathogen proteins attempting to avoid inactivation by the monocot host. PMID:17720868

  20. Functional Expression in Escherichia coli and Membrane Topology of Porin HopE, a Member of a Large Family of Conserved Proteins in Helicobacter pylori

    PubMed Central

    Bina, Jim; Bains, Manjeet; Hancock, Robert E. W.

    2000-01-01

    HopE is one of the smallest members of a family of 31 outer membrane proteins in Helicobacter pylori and has been shown to function as a porin. In this study it was cloned into Escherichia coli where it was expressed in the outer membrane, as confirmed by indirect immunofluorescence using HopE-specific antibodies. HopE purified from E. coli reconstituted channels in planar bilayer membranes that were the same size as those formed by HopE purified from H. pylori. A model of the membrane topology of HopE was constructed and indicated that this protein formed a β-barrel with 16 transmembrane amphipathic β-strands. The accuracy of this model was tested by linker insertion mutagenesis, assuming that, like other porins, amino acid insertions were not tolerated in the transmembrane β-strands but were tolerated in the adjoining loop regions. Generally, the results obtained with a series of 12 insertions of the sequence RSKDV and two substitutions were consistent with the topological model. The preponderance of amino acids that were conserved in the extended family of HopE paralogs were predicted to be within the membrane and comprised 45% of all residues in the membrane. PMID:10762234

  1. High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.

    PubMed

    Martínez-Bouzas, Cristina; Ojembarrena, Enrique; Beristain, Elena; Errasti, Javier; Viguera, Noelia; Tejada Minguéz, Maria-Isabel

    2007-10-08

    Hereditary nonpolyposis colorectal cancer (HNPCC), which represents the most common form of inherited colorectal cancer, results from germline alterations of the mismatch repair genes MSH2, MLH1 and MSH6. Rearrangements of MSH2 and MLH1 are involved in at least 10% and 4.3%, respectively, of the HNPCC families fulfilling the Amsterdam (AMS) criteria. We applied a recently developed method, multiplex ligation-dependent probe amplification (MLPA), to study MLH1/MSH2 copy number changes in 29 unrelated Basque Country HNPCC families. We detected six different genomic rearrangements in total (6/29=20.69%), four in MSH2 gene (13.79%), and two in MLH1 gene. All of the MSH2 rearrangements were genomic deletions involving several exons. The MLH1 rearrangements were initially detected as one deletion of exon 18 and one deletion of exon 19, but after sequencing analysis, these deletions were not confirmed and corresponded to base pair mutations. We conclude that MLPA is an excellent tool for detecting exon copy number changes in MLH1 and MSH2 in the DNA from HNPCC patients, although all detected rearrangements should be confirmed by an independent molecular methodology. Furthermore, our results in the Basque Country show higher percentages of rearrangements than previously published by other authors.

  2. Better Homes and Families: Housing Markets and Young Couple Stability in Sweden

    ERIC Educational Resources Information Center

    Lauster, Nathanael T.

    2008-01-01

    I model the relationship between aspects of the housing market influenced by housing policy and couple stability for cohabiting couples in Sweden. Using data on 3,851 cohabiting couples obtained from the Swedish Family Survey of 1992, I examine the effects of housing market characteristics on couple outcomes. I focus on three housing variables,…

  3. 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.

  4. 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.

  5. Swedish forensic nursing care: nurses' professional contributions and educational needs.

    PubMed

    Rask, Mikael; Aberg, Jonas

    2002-10-01

    Nurses (registered nurses, RN, and licensed mental nurses, LMN) working in five Swedish forensic psychiatric units filled in a questionnaire designed for general psychiatric nursing, but modified for forensic use. In this report, data regarding how nursing care could contribute to improved care and the organizational changes needed and what knowledge the nurses need, in order to be able to meet the demands in the future, were analysed by means of content analysis. The salient findings were: (i) an interpersonal patient-nurse relationship based on trust, empathy, respect and responsibility for the patients' personal resources and knowledge seems to be the essence of nursing care and a way to improve care; and (ii) the nurses' educational needs emanate from different treatment modalities, how to perform different treatments, how to establish developing relationships and in-service training adapted to the ward-specific problems.

  6. Use of imazapyr against Equisetum arvense on Swedish railway tracks.

    PubMed

    Torstensson, Lennart; Börjesson, Elisabet

    2004-06-01

    Since glyphosate has been used extensively for weed control in Swedish railway tracks, common horsetail (Equisetum arvense L), previously relatively rare, has become very common. Glyphosate, although effective against most other weeds found on railway tracks, gives poor control of E. arvense, so that heavy infestation with this weed is now common. Imazapyr (applied as a 250g AE litre(-1) SL, Arsenal) has controlled E. arvense, but is known to be very mobile. Adequate control of the weed requires application of > or = 4 litres ha(-1) of imazapyr SL but environmental factors preclude the use of > 2 litres ha(-1). A suitable strategy was found to be one application of imazapyr SL at 2 litres ha(-1) in each of two successive years but best weed control was obtained by supplementing imazapyr in the first year with glyphosate 360 g AE litre(-1) SL (RoundUp Bio) at 3 litres ha(-1).

  7. Mobility and health information searches - a Swedish perspective.

    PubMed

    Eklund, Ann-Marie

    2013-01-01

    Today the first point of contact between a patient and health care is often an internet health portal - not a human. There is also a trend towards increased use of mobile devices for internet searching. We present a study of the use of mobile vs non-mobile devices when accessing the main Swedish official health portal. Our findings indicate that there is a difference in not only when people search for health information, but also the type of information searched for using different devices. We conclude that further analysis is needed to understand these differences, and consequently that the same portal solution may not suit both mobile and non-mobile health information seekers.

  8. Designing for our future selves: the Swedish experience.

    PubMed

    Benktzon, M

    1993-02-01

    The social context of Sweden provides a good environment for research and development of products and technical aids for the disabled and elderly. However, the model used by Swedish ergonomists and designers in Ergonomi Design Gruppen emphasizes how the application of experience gained from designing such aids can lead to better products for everyone. Three main examples are given to demonstrate how ergonomics studies and prototype/model evaluation by the target users have led to new designs for familiar objects: eating implements, walking sticks and coffee pots. Addressing particular aspects of design for people with specific difficulties, and problems associated with the use of everyday items, has led to designs which are acceptable to a broader range of users.

  9. The lived experience of genital warts: the Swedish example.

    PubMed

    Hammarlund, Kina; Nystrom, Maria

    2004-05-01

    Our aim in this study was to analyze and describe young Swedish women's experiences of living with genital warts. Interviews with 10 young women, aged 16-21 years, were interpreted within a lifeworld hermeneutic tradition. The women experience themselves as victims of a disgusting disease. Furthermore, they appear to disregard the fact that their own lifestyles could be a risk factor for contracting venereal infections. On the other hand they get to know their bodies better after the gynecological examinations where the treatment begins. Their loss of innocence is considerable; thus it seems fair to compare this experience with earlier epochs' ideas about loss of virginity due to the first intercourse. Consequently the young women also start looking at themselves as adults, and they take responsibility for the consequences of their sexuality.

  10. 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.

  11. 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..

  12. 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.

  13. 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.

  14. Perinatal characteristics and risk of polio among Swedish twins.

    PubMed

    Perng, Wei; Cnattingius, Sven; Iliadou, Anastasia; Villamor, Eduardo

    2012-05-01

    Prenatal exposure to adverse environmental conditions is related to increased adult mortality in regions where infections are highly prevalent, yet there is little evidence of the impact of perinatal conditions on the risk of severe infections throughout life. Using prospectively collected data from 21 604 like-sexed Swedish twins of known zygosity born in 1926-1958, we examined the risk of polio in relation to perinatal characteristics using cohort and nested co-twin case-control analyses. Polio incidence was determined through an interview in 1998, and linkage with the Swedish national inpatient and death registries. There were 133 cases of polio. In the cohort analysis, birth length, birthweight and head circumference were positively associated with polio risk. After adjustment for sex, birth year, gestational age at birth and within-twin pair correlations, twins of shortest length (<44 cm) had a 67% ([95% CI: 6%, 88%]; P=0.04) lower risk of polio compared with the reference group (47-49 cm). After additional adjustment for birth length, every 100-g increase in birthweight was related to a 34% increased risk of polio ([95% CI: -1%, 82%]; P=0.06), and every 10-mm increase in head circumference was related to a 17% greater risk of polio ([95% CI: 5%, 31%]; P=0.004). In co-twin control analyses among 226 disease-discordant twins, birth length, birthweight and head circumference were 0.3 cm (P=0.19), 84 g (P=0.07) and 3 mm (P=0.08) higher in cases than controls, respectively. Similar associations were observed among monozygotic (n=84) and dizygotic (n=142) twins. These findings suggest that early intrauterine growth restriction may be inversely related to the incidence of polio.

  15. Knut Lundmark, meteors and an early Swedish crowdsourcing experiment.

    PubMed

    Kärnfelt, Johan

    2014-10-01

    Mid twentieth century meteor astronomy demanded the long-term compilation of observations made by numerous individuals over an extensive geographical area. Such a massive undertaking obviously required the participation of more than just professional astronomers, who often sought to expand their ranks through the use of amateurs that had a basic grasp of astronomy as well as the night sky, and were thus capable of generating first-rate astronomical reports. When, in the 1920s, renowned Swedish astronomer Knut Lundmark turned his attention to meteor astronomy, he was unable to rely even upon this solution. In contrast to many other countries at the time, Sweden lacked an organized amateur astronomy and thus contained only a handful of competent amateurs. Given this situation, Lundmark had to develop ways of engaging the general public in assisting his efforts. To his advantage, he was already a well-established public figure who had published numerous popular science articles and held talks from time to time on the radio. During the 1930s, this prominence greatly facilitated his launching of a crowdsourcing initiative for the gathering of meteor observations. This paper consists of a detailed discussion concerning the means by which Lundmark's initiative disseminated astronomical knowledge to the general public and encouraged a response that might directly contribute to the advancement of science. More precisely, the article explores the manner in which he approached the Swedish public, the degree to which that public responded and the extent to which his efforts were successful. The primary aim of this exercise is to show that the apparently recent Internet phenomenon of 'crowdsourcing', especially as it relates to scientific research, actually has a pre-Internet history that is worth studying. Apart from the fact that this history is interesting in its own right, knowing it can provide us with a fresh vantage point from which to better comprehend and appreciate

  16. Hand-arm vibration syndrome in Swedish car mechanics

    PubMed Central

    Barregard, L; Ehrenstrom, L; Marcus, K

    2003-01-01

    Aims: To assess the occurrence of hand-arm vibration syndrome (HAVS) in Swedish car mechanics, and the relation between HAVS and duration of exposure. Methods: A total of 806 mechanics answered a questionnaire on vascular and neurological symptoms, and exposure to vibrations. Mechanics with symptoms, and some mechanics without symptoms, were invited to a clinical examination, including also a timed Allen test. Vascular and neurological symptoms were classified using the Stockholm Workshop scales. The mean daily exposure (mainly using nut-runners) was 14 minutes and the mean exposure duration, 12 years. Published data have shown vibration levels in nut-runners of about 3.5 m/s2. Results: In the questionnaire, 24% reported cold induced white finger (WF), 25% persistent numbness, and 13%, reduced grip force. The clinical examination showed a prevalence of vibration induced white finger (VWF) of about 15%, mainly in stage 2, and after 20 years, of 25%. A survival analysis showed similar results. We found that the International Organisation for Standardisation (ISO) model underestimates the risk of VWF. The incidence after 1975 was 19 cases per 1000 person-years. Slow refill times in the timed Allen test were common (15% had a refill time of >20 seconds), and associated with the presence of VWF. The clinical examination revealed neurological symptoms in the hands in about 25% of subjects, mainly at stage 2. After 20 years, the prevalence was 40%. The questionnaire items on WF and numbness both showed likelihood ratios of 13. Conclusion: HAVS is common among Swedish car mechanics in spite of short daily exposure times. This underlines the need for preventive measures. PMID:12660377

  17. Antiretroviral treatment of HIV infection: Swedish recommendations 2005.

    PubMed

    Gisslén, Magnus; Ahlqvist-Rastad, Jane; Albert, Jan; Blaxhult, Anders; Hamberg, Anna-Karin; Lindbäck, Stefan; Sandström, Eric; Uhnoo, Ingrid

    2006-01-01

    On 2 earlier occasions, in 2002 and 2003, the Swedish Medical Products Agency (MPA) and the Swedish Reference Group for Antiviral Therapy (RAV) have jointly publicized recommendations for the treatment of HIV infection. A working group from the same expert team that produced the 2002 report has now revised the text again. Since the publication of the last treatment recommendations, 4 new medicines have become available: emtricitabine, atazanavir, fosamprenavir, and enfuvirtid. The last-mentioned belongs to a new class of HIV medications called fusion inhibitors (Box 1). It is likely that tipranavir will also be on the market soon. Simultaneously, the drug zalcitabin has been deregistered. The following updated recommendations parallel the earlier ones, but increased knowledge allows us to be more specific in our recommendations. Thus, it is now suggested that the initial treatment for HIV infection consist of 2 nucleoside reverse transcriptase inhibitors (NRTIs) and 1 non-nucleoside reverse transcriptase inhibitor (NNRTI); or 2 NRTIs and 1 protease inhibitor (PI). In the group of the NRTIs, stavudine is no longer recommended for this purpose. In the NNRTI group, efavirenz should be preferred to nevirapine, except under special circumstances. Finally, PIs ought to be boosted with ritonavir (PI/r). Also new are recommendations regarding treatment choices for patients co-infected with hepatitis B virus (HBV) or tuberculosis (TB). As in the case of the previous publication, recommendations are evidence-graded in accordance with the Oxford Centre for Evidence Based Medicine, 2001 (see http://www.cebm.net/levels_of_evidence.asp#levels), and have been supplemented with references to newly-added sections and data not referred to in earlier background documentation.

  18. 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.

  19. Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

    PubMed Central

    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

    2016-01-01

    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. PMID:26242992

  20. Cooperation and Individualization as Principles of Instruction in the Swedish School.

    ERIC Educational Resources Information Center

    Willmann, Bodo

    1978-01-01

    Discusses reform in the Swedish public school system since 1962. Reform efforts have centered around equality of opportunity and meeting individual needs. Topics discussed include experimental high schools, open classrooms, student motivation, individualized instruction, and social integration. (DB)

  1. The Teaching of Biology: Young Children and a Piece of Swedish Education History

    ERIC Educational Resources Information Center

    Hermansson, Ester

    1977-01-01

    A program to help children become aware of the biological interdependence of living things is being introduced into Swedish preschool programs. Program background and focus on discovery learning are discussed. For journal availability, see SO 505 539. (AV)

  2. 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…

  3. 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

  4. The guanylate-binding proteins: emerging insights into the biochemical properties and functions of this family of large interferon-induced guanosine triphosphatase.

    PubMed

    Vestal, Deborah J; Jeyaratnam, Jonathan A

    2011-01-01

    Originally identified by their unusual ability to bind guanosine monophosphate (GMP) nucleotide agarose, the guanylate-binding proteins (GBPs) were used extensively to promote our understanding of interferon-induced gene transcription and as markers of interferon responsiveness. Structural and biochemical analyses of human GBP-1 subsequently demonstrated that the GBPs are a unique subfamily of guanosine triphosphatase (GTPases) that hydrolyze guanosine triphosphate (GTP) to both guanosine diphosphate (GDP) and GMP. As members of the larger dynamin superfamily of GTPases, GBPs exhibit such properties as nucleotide-dependent oligomerization and concentration-dependent GTPase activity. Recently, progress has been made in assigning functions to members of the GBP family. While many of these functions involve protection against intracellular pathogens, a growing number of them are not directly related to pathogen protection. It is currently unclear how the unusual properties of GBPs contribute to this growing list of functions. As future studies uncover the molecular mechanism(s) of action of the GBPs, we will gain a greater understanding of how individual GBPs can mediate what currently appears to be a divergent set of functions.

  5. Family Folklore

    ERIC Educational Resources Information Center

    Kotkin, Amy J.; Baker, Holly C.

    1977-01-01

    Discusses the Family Folklore Program of the Smithsonian Institution's annual Festival of American Folklife, in which the whole family can be involved in tracing family history through story telling, photographs, etc. (MS)

  6. Familial hypertriglyceridemia

    MedlinePlus

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

  7. 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 ...

  8. 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 ...

  9. Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred

    SciTech Connect

    Barr, C.L.; Kennedy, J.L.; Pakstis, A.J.

    1994-03-15

    Genetic linkage studies of a kindred from Sweden segregating for schizophrenia have been performed using a genetic model (autosomal dominant, f - 0.72, q - 0.02, phenocopies=0.001) as described in Kennedy et al., 1988. Analyses of the restriction fragment length polymorphism (RFLP), allele-specific oligonucleotides (ASO), and short tandem repeat (STR also called microsatellite) data for 180 polymorphisms (individual probe-enzyme, ASO, or STR systems) at 155 loci have been completed using the MLINK and LIPED programs. Linkage to schizophrenia was excluded, under the given model, at 47 loci; indeterminate lod scores occurred at 108 loci. The total exclusion region across 20 chromosomes is estimated at 330 cM; 211 cM excluded by pairwise analyses and 119 cM previously excluded by multipoint analyses. 37 refs., 2 tabs.

  10. Sugar-sweetened beverage consumption and genetic predisposition to obesity in 2 Swedish cohorts12

    PubMed Central

    Brunkwall, Louise; Chen, Yan; Hindy, George; Rukh, Gull; Ericson, Ulrika; Barroso, Inês; Johansson, Ingegerd; Franks, Paul W; Orho-Melander, Marju; Renström, Frida

    2016-01-01

    Background: The consumption of sugar-sweetened beverages (SSBs), which has increased substantially during the last decades, has been associated with obesity and weight gain. Objective: Common genetic susceptibility to obesity has been shown to modify the association between SSB intake and obesity risk in 3 prospective cohorts from the United States. We aimed to replicate these findings in 2 large Swedish cohorts. Design: Data were available for 21,824 healthy participants from the Malmö Diet and Cancer study and 4902 healthy participants from the Gene-Lifestyle Interactions and Complex Traits Involved in Elevated Disease Risk Study. Self-reported SSB intake was categorized into 4 levels (seldom, low, medium, and high). Unweighted and weighted genetic risk scores (GRSs) were constructed based on 30 body mass index [(BMI) in kg/m2]-associated loci, and effect modification was assessed in linear regression equations by modeling the product and marginal effects of the GRS and SSB intake adjusted for age-, sex-, and cohort-specific covariates, with BMI as the outcome. In a secondary analysis, models were additionally adjusted for putative confounders (total energy intake, alcohol consumption, smoking status, and physical activity). Results: In an inverse variance-weighted fixed-effects meta-analysis, each SSB intake category increment was associated with a 0.18 higher BMI (SE = 0.02; P = 1.7 × 10−20; n = 26,726). In the fully adjusted model, a nominal significant interaction between SSB intake category and the unweighted GRS was observed (P-interaction = 0.03). Comparing the participants within the top and bottom quartiles of the GRS to each increment in SSB intake was associated with 0.24 (SE = 0.04; P = 2.9 × 10−8; n = 6766) and 0.15 (SE = 0.04; P = 1.3 × 10−4; n = 6835) higher BMIs, respectively. Conclusions: The interaction observed in the Swedish cohorts is similar in magnitude to the previous analysis in US cohorts and indicates that the relation of SSB

  11. Family Literacy

    ERIC Educational Resources Information Center

    Holloway, John H.

    2004-01-01

    Research indicates that family literacy programs can provide opportunities for educational success for parents and children. The benefits reaped by the children in family literacy workshops are presented.

  12. Investigating the factorial structure and availability of work time control in a representative sample of the Swedish working population

    PubMed Central

    Albrecht, Sophie C.; Kecklund, Göran; Tucker, Philip; Leineweber, Constanze

    2015-01-01

    Aims: Past research has often neglected the sub-dimensions of work time control (WTC). Moreover, differences in levels of WTC with respect to work and demographic characteristics have not yet been examined in a representative sample. We investigated these matters in a recent sample of the Swedish working population. Methods: The study was based on the 2014 data collection of the Swedish Longitudinal Occupational Survey of Health. We assessed the structure of the WTC measure using exploratory and confirmatory factor analysis. Differences in WTC by work and demographic characteristics were examined with independent sample t-tests, one-way ANOVAs and gender-stratified logistic regressions. Results: Best model fit was found for a two-factor structure that distinguished between control over daily hours and control over time off (root mean square error of approximation = 0.06; 95% CI 0.04 to 0.09; Comparative Fit Index (CFI) = 0.99). Women, shift and public-sector workers reported lower control in relation to both factors. Age showed small associations with WTC, while a stronger link was suggested for civil status and family situation. Night, roster and rotating shift work seemed to be the most influential factors on reporting low control over daily hours and time off. Conclusions: Our data confirm the two-dimensional structure underlying WTC, namely the components ‘control over daily hours’ and ‘control over time off’. Women, public-sector and shift workers reported lower levels of control. Future research should examine the public health implications of WTC, in particular whether increased control over daily hours and time off can reduce health problems associated with difficult working-time arrangements. PMID:26620363

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

    PubMed

    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.

  14. 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

  15. 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.

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

    PubMed Central

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

    2013-01-01

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

  17. Incidence of and mortality from kidney disease in over 600,000 insured Swedish dogs.

    PubMed

    Pelander, L; Ljungvall, I; Egenvall, A; Syme, H; Elliott, J; Häggström, J

    2015-06-20

    Kidney disease is an important cause of morbidity and mortality in dogs. Knowledge about the epidemiology of kidney disease in the dog population is valuable and large-scale epidemiological studies are needed. The aim of the present study was to use insurance data to estimate kidney-related morbidity and mortality in the Swedish dog population. Insurance company data from insured dogs during the years 1995-2006 were studied retrospectively. Incidence and mortality were calculated for the whole group of dogs as well as divided by sex and breed. The total number of veterinary care insured dogs was 665,245. The total incidence of kidney disease in this group of dogs was 15.8 (15.3-16.2) cases/10,000 dog-years at risk. The number of dogs in the life insurance was 548,346 and in this group the total kidney-related mortality was 9.7 (9.3-10.2) deaths/10,000 dog-years at risk. The three breeds with the highest incidence of kidney disease were the Bernese mountain dog, miniature schnauzer and boxer. The three breeds with the highest mortality caused by kidney disease were the Bernese mountain dog, Shetland sheepdog and flat-coated retriever. In conclusion, the epidemiological information provided in this study concerning kidney disease in dogs can provide valuable information for future research.

  18. Quantification of neurotoxin BMAA (β-N-methylamino-L-alanine) in seafood from Swedish markets

    NASA Astrophysics Data System (ADS)

    Jiang, Liying; Kiselova, Nadezda; Rosén, Johan; Ilag, Leopold L.

    2014-11-01

    The neurotoxin β-N-methylamino-L-alanine (BMAA) produced naturally by cyanobacteria, diatoms and dinoflagellates can be transferred and accumulated up the food chain, and may be a risk factor for neurodegenerative diseases. This study provides the first systematic screening of BMAA exposure of a large population through the consumption of seafood sold in metropolitan markets. BMAA was distinguished from known isomers by liquid chromatography tandem mass spectrometry after acidic hydrolysis and derivatization. Using deuterium-labeled internal standard, BMAA was quantified as 0.01-0.90 μg/g wet weight of tissues in blue mussel, oyster, shrimp, plaice, char and herring, but was undetectable (<0.01 μg/g) in other samples (salmon, cod, perch and crayfish). Provided that the content of BMAA detected is relevant for intake calculations, the data presented may be used for a first estimation of BMAA exposure through seafood from Swedish markets, and to refine the design of future toxicological experiments and assessments.

  19. Job decision latitude, job demands, and cardiovascular disease: a prospective study of Swedish men.

    PubMed Central

    Karasek, R; Baker, D; Marxer, F; Ahlbom, A; Theorell, T

    1981-01-01

    The association between specific job characteristics and subsequent cardiovascular disease was tested using a large random sample of the male working Swedish population. The prospective development of coronary heart disease (CHD) symptoms and signs was analyzed using a multivariate logistic regression technique. Additionally, a case-controlled study was used to analyze all cardiovascular-cerebrovascular (CHD-CVD) deaths during a six-year follow-up. The indicator of CHD symptoms and signs was validated in a six-year prospective study of CHD deaths (standardized mortality ratio 5.0; p less than or equal to .001). A hectic and psychologically demanding job increases the risk of developing CHD symptoms and signs (standardized odds ratio 1.29, p less than 0.25) and premature CHD-CVD death (relative risk 4.0, p less than .01). Low decision latitude-expressed as low intellectual discretion and low personal schedule freedom-is also associated with increased risk of cardiovascular disease. Low intellectual discretion predicts the development of CHD symptoms and signs (SOR 1.44, p less than .01), while low personal schedule freedom among the majority of workers with the minimum statutory education increases the risk of CHD-CVD death (RR 6.6, p less than .0002). The associations exist after controlling for age, education, smoking, and overweight. PMID:7246835

  20. Viewing child pornography: prevalence and correlates in a representative community sample of young Swedish men.

    PubMed

    Seto, Michael C; Hermann, Chantal A; Kjellgren, Cecilia; Priebe, Gisela; Svedin, Carl Göran; Långström, Niklas

    2015-01-01

    Most research on child pornography use has been based on selected clinical or criminal justice samples; risk factors for child pornography use in the general population remain largely unexplored. In this study, we examined prevalence, risk factors, and correlates of viewing depictions of adult-child sex in a population-representative sample of 1,978 young Swedish men (17-20 years, Mdn = 18 years, overall response rate, 77 %). In an anonymous, school-based survey, participants self-reported sexual coercion experiences, attitudes and beliefs about sex, perceived peer attitudes, and sexual interests and behaviors; including pornography use, sexual interest in children, and sexually coercive behavior. A total of 84 (4.2 %) young men reported they had ever viewed child pornography. Most theory-based variables were moderately and significantly associated with child pornography viewing and were consistent with models of sexual offending implicating both antisociality and sexual deviance. In multivariate logistic regression analysis, 7 of 15 tested factors independently predicted child pornography viewing and explained 42 % of the variance: ever had sex with a male, likely to have sex with a child aged 12-14, likely to have sex with a child 12 or less, perception of children as seductive, having friends who have watched child pornography, frequent pornography use, and ever viewed violent pornography. From these, a 6-item Child Pornography Correlates Scale was constructed and then cross-validated in a similar but independent Norwegian sample.

  1. Quantification of neurotoxin BMAA (β-N-methylamino-L-alanine) in seafood from Swedish markets.

    PubMed

    Jiang, Liying; Kiselova, Nadezda; Rosén, Johan; Ilag, Leopold L

    2014-11-06

    The neurotoxin β-N-methylamino-L-alanine (BMAA) produced naturally by cyanobacteria, diatoms and dinoflagellates can be transferred and accumulated up the food chain, and may be a risk factor for neurodegenerative diseases. This study provides the first systematic screening of BMAA exposure of a large population through the consumption of seafood sold in metropolitan markets. BMAA was distinguished from known isomers by liquid chromatography tandem mass spectrometry after acidic hydrolysis and derivatization. Using deuterium-labeled internal standard, BMAA was quantified as 0.01-0.90 μg/g wet weight of tissues in blue mussel, oyster, shrimp, plaice, char and herring, but was undetectable (<0.01 μg/g) in other samples (salmon, cod, perch and crayfish). Provided that the content of BMAA detected is relevant for intake calculations, the data presented may be used for a first estimation of BMAA exposure through seafood from Swedish markets, and to refine the design of future toxicological experiments and assessments.

  2. Quantification of neurotoxin BMAA (β-N-methylamino-L-alanine) in seafood from Swedish markets

    PubMed Central

    Jiang, Liying; Kiselova, Nadezda; Rosén, Johan; Ilag, Leopold L.

    2014-01-01

    The neurotoxin β-N-methylamino-L-alanine (BMAA) produced naturally by cyanobacteria, diatoms and dinoflagellates can be transferred and accumulated up the food chain, and may be a risk factor for neurodegenerative diseases. This study provides the first systematic screening of BMAA exposure of a large population through the consumption of seafood sold in metropolitan markets. BMAA was distinguished from known isomers by liquid chromatography tandem mass spectrometry after acidic hydrolysis and derivatization. Using deuterium-labeled internal standard, BMAA was quantified as 0.01–0.90 μg/g wet weight of tissues in blue mussel, oyster, shrimp, plaice, char and herring, but was undetectable (<0.01 μg/g) in other samples (salmon, cod, perch and crayfish). Provided that the content of BMAA detected is relevant for intake calculations, the data presented may be used for a first estimation of BMAA exposure through seafood from Swedish markets, and to refine the design of future toxicological experiments and assessments. PMID:25373604

  3. Masturbation Experiences of Swedish Senior High School Students: Gender Differences and Similarities.

    PubMed

    Driemeyer, Wiebke; Janssen, Erick; Wiltfang, Jens; Elmerstig, Eva

    2016-05-04

    Research about masturbation tends to be limited to the assessment of masturbation incidence and frequency. Consequently, little is known about what people experience connected to masturbation. This might be one reason why theoretical approaches that specifically address the persistent gender gap in masturbation frequency are lacking. The aim of the current study was to explore several aspects of masturbation in young men and women, and to examine possible associations with their social backgrounds and sexual histories. Data from 1,566 women and 1,452 men (ages 18 to 22) from 52 Swedish senior high schools were analyzed. Comparisons between men and women were made regarding incidence of and age at first masturbation, the use of objects (e.g., sex toys), fantasies, and sexual functioning during masturbation, as well as about their attitudes toward masturbation and sexual fantasies. Cluster analysis was carried out to identify similarities between and differences within the gender groups. While overall more men than women reported experience with several of the investigated aspects, cluster analyses revealed that a large proportion of men and women reported similar experiences and that fewer experiences are not necessarily associated with negative attitudes toward masturbation. Implications of these findings are discussed in consideration of particular social backgrounds.

  4. Increased vitamin plasma levels in Swedish military personnel treated with nutrients prior to automatic weapon training

    PubMed Central

    Le Prell, C. G.; Johnson, A.-C.; Lindblad, A.-C.; Skjönsberg, Å.; Ulfendahl, M.; Guire, K.; Green, G. E.; Campbell, K. C. M.; Miller, J. M.

    2013-01-01

    Noise-induced hearing loss (NIHL) is a significant clinical, social, and economic issue. The development of novel therapeutic agents to reduce NIHL will potentially benefit multiple very large noise-exposed populations. Oxidative stress has been identified as a significant contributor to noise-induced sensory cell death and noise-induced hearing loss, and several antioxidant strategies have now been suggested for potential translation to human subjects. One such strategy is a combination of beta-carotene, vitamins C and E, and magnesium, which has shown promise for protection against NIHL in rodent models, and is being evaluated in a series of international human clinical trials using temporary (military gunfire, audio player use) and permanent (stamping factory, military airbase) threshold shift models (NCT00808470). The noise exposures used in the recently completed Swedish military gunfire study described in this report did not, on average, result in measurable changes in auditory function using conventional pure-tone thresholds and distortion product otoacoustic emission (DPOAE) amplitudes as metrics. However, analysis of the plasma samples confirmed significant elevations in the bloodstream 2 hours after oral consumption of active clinical supplies, indicating the dose is realistic. The plasma outcomes are encouraging, but clinical acceptance of any novel therapeutic critically depends on demonstration that the agent reduces noise-induced threshold shift in randomized, placebo-controlled, prospective human clinical trials. Although this noise insult did not induce hearing loss, the trial design and study protocol can be applied to other populations exposed to different noise insults. PMID:22122960

  5. Natural history and prognostic factors in 305 Swedish patients with primary sclerosing cholangitis.

    PubMed Central

    Broomé, U; Olsson, R; Lööf, L; Bodemar, G; Hultcrantz, R; Danielsson, A; Prytz, H; Sandberg-Gertzén, H; Wallerstedt, S; Lindberg, G

    1996-01-01

    BACKGROUND/AIMS--The course of primary sclerosing cholangitis (PSC) is highly variable and unpredictable. This study describes the natural history and outcome of PSC. These data were used to construct a prognostic model for patients with PSC. METHODS--A total of 305 Swedish patients with PSC were studied. The median follow up time was 63 (1-194) months and all patients could be traced for follow up. Some 79 patients died or had a liver transplant. The prognostic significance of clinical, biochemical, and histological findings at the time of diagnosis were evaluated using multivariate analysis. RESULTS--The estimated median survival from time of diagnosis to death or liver transplantation was 12 years. Cholangiocarcinoma was found in 24 (8%) of the patients and 134 (44%) of the patients were asymptomatic at the time of diagnosis. The estimated survival rate was significantly higher in the asymptomatic group (p < 0.001). However, 29 (22%) of the asymptomatic patients became symptomatic during the study period. It was found that age, serum bilirubin concentration, and histological stage at the time of diagnosis were independent predictors of a bad prognosis. These variables were used to construct a prognostic model. CONCLUSIONS--This prognostic model developed from a large homogeneous population of PSC patients should be of value for the timing of transplantation and patient counselling in PSC. PMID:8707097

  6. STAC -- a new Swedish code for statistical analysis of cracks in SG-tubes

    SciTech Connect

    Poern, K.

    1997-02-01

    Steam generator (SG) tubes in pressurized water reactor plants are exposed to various types of degradation processes, among which stress corrosion cracking in particular has been observed. To be able to evaluate the safety importance of such cracking of SG-tubes one has to have a good and empirically founded knowledge about the scope and the size of the cracks as well as the rate of their continuous growth. The basis of experience is to a large extent constituted of the annually performed SG-inspections and crack sizing procedures. On the basis of this experience one can estimate the distribution of existing crack lengths, and modify this distribution with regard to maintenance (plugging) and the predicted rate of crack propagation. Finally, one can calculate the rupture probability of SG-tubes as a function of a given critical crack length. On account of the Swedish Nuclear Power Inspectorate an introductory study has been performed in order to get a survey of what has been done elsewhere in this field. The study resulted in a proposal of a computerizable model to be able to estimate the distribution of true cracks, to modify this distribution due to the crack growth and to compute the probability of tube rupture. The model has now been implemented in a compute code, called STAC (STatistical Analysis of Cracks). This paper is aimed to give a brief outline of the model to facilitate the understanding of the possibilities and limitations associated with the model.

  7. A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I.

    PubMed

    Qu, Le; Wei, Bin; Liu, Mei; Zhang, Lili; Xiao, Ting; Chen, Hong-Duo; Zhou, Li; Mi, Qing-Sheng; He, Chundi

    2012-10-01

    C1 inhibitor (C1INH) plays an important role in the classical pathway of the complement system. Mutations in C1INH gene cause quantitative or qualitative deficiencies in C1INH, which can lead to hereditary angioedema (HAE) type I or II. Here, we identified a novel frame-shift mutation c.1391-1445del55 (p.v464fsx556) in exon 8 in a large Chinese family with HAE type I. This 55 base pairs deletion abolishes the original stop codon and introduces a new stop codon 220 bp downstream of the original one, and leads to mutated C1INH protein prolonged from 500 to 556 amino acids. The levels of C4 and C1INH as well as C1INH activity in serum were significantly reduced in affected individuals. This is the first report of a novel mutation abolishing the physiological stop codon of C1INH gene in a large Chinese family with HAE type I.

  8. The Swedish Bohus granite - a stone with a fascinating history

    NASA Astrophysics Data System (ADS)

    Schouenborg, Björn; Eliasson, Thomas

    2015-04-01

    One of the most well-known and well spread Swedish stone types used as building stones is the Bonus granite. It outcrops in an area north of Gothenburgh (SW Sweden), along the coastline, approximately 35 km wide and 85 km long. The granite continues into Norway as the Iddefjord granite. The Bohus granite is one of Sweden's youngest granites. Isotopic dating shows that the magma cooled at about 920 M years ago and thus marking the end of the Sveconorwegian orogoney. It is a composite granite massif area with several granitic intrusions but with rather homogeneous mineralogy. However, colour and texture varies quite a lot and the colour ranges from red to reddish grey although some pure grey varieties occur sparsely. The grain size ranges from medium grained to coarse grained and even with some porphyric parts. Quarrying in an industrial scale started 1842. The merchant A C Kullgren opened the first quarry and produced stones for the construction of the 86 km long Trollhättan channel connecting lake Vänern and the Atlantic ocean in the SW Sweden The stone was used for constructing harbors and wharves along the channel. Several quarries opened in the late 1800 around 1870 - 1890 and the export increased steadily with deliveries to Germany, Denmark, Holland, England and even to South America. The stone industries in Bohuslän (Bohus county), at its peak in 1929, engaged around 7 000 employees. During the depression in 1930 almost all of them became unemployed. However, as a curiosity, production and export continued to Germany for construction of Germania, the future World capital city ("Welthauptstadt Germania"), planned by Adolf Hitler and Albert Speer. About 500 stone workers were kept employed for this project during the late thirties. Today several varieties are still produced: Evja/Ävja, Tossene, Brastad, Näsinge, Broberg, Nolby, Allemarken and Skarstad. However, the number of stone workers is far from that of the early 1900. The Swedish production is mainly

  9. Quality of life and clinical features in Swedish children with psoriasis.

    PubMed

    Gånemo, Agneta; Wahlgren, Carl-Fredrik; Svensson, Åke

    2011-01-01

    Psoriasis is a common, chronic disease and in one-third of the patients it begins during the first 2 decades of life. The burdens of psoriasis are many, and some can be assessed with quality of life questionnaires. The aim was to investigate the impact of childhood psoriasis on quality of life in children and their parents and to correlate certain clinical findings with quality of life. Forty-five Swedish children (4-16 years, 28 girls) with psoriasis, and their parents, were investigated with the validated questionnaires Children's Dermatology Life Quality Index (5-16 years, n = 42), The Infant's Dermatitis Quality of Life Index (4 years, n = 3), and Dermatitis Family Impact (n = 45), the two latter with the word eczema replaced by psoriasis. Clinical examination was performed, and psoriasis severity was scored with Psoriasis Area and Severity Index. Chronic plaque psoriasis was the most common clinical type (87%). Four of the children had joint complaints. Ninety-three percent had pruritus the preceding 3 days. Ninety-three percent were receiving treatment. Median Psoriasis Area and Severity Index score was 3.3 (range 0.5-12.3). Median score for the Infant's Dermatitis Quality of Life Index was 4.0 (range 2-12), for Children's Dermatology Life Quality Index 4.0 (0-24), and for Dermatitis Family Impact questionnaire 4.0 (0-25). No significant gender difference existed. The Children's Dermatology Life Quality Index scores were higher for younger (5-8 yrs) than older (9-16 yrs) children and higher for those with joint complaints. The Dermatitis family impact scores correlated significantly with Children's Dermatology Life Quality Index and Psoriasis Area and Severity Index scores, but the Children's Dermatology Life Quality Index did not correlate with Psoriasis Area and Severity Index. The Visual Analog Scale and quality of life scores were significantly correlated. Psoriasis in children affects quality of life in the subjects and their parents. Joint complaints

  10. 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

  11. 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

  12. 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.

  13. Muslim families and family therapy.

    PubMed

    Daneshpour, M

    1998-07-01

    Muslim immigrant families living in the United States may well come to the attention of mental health professionals. This article examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The most significant differences in value systems between the Muslim and Anglo-American cultures is Muslim families' preference for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Systemic thinking, which deals with the pattern of relationships, is valid for all families regardless of cultural differences. However, the preferred directions of change for Muslim families need to be integrated into the assessment and goals for family therapy.

  14. Long-term effects on nitrogen and benthic fauna of extreme weather events: Examples from two Swedish headwater streams.

    PubMed

    Löfgren, Stefan; Grandin, Ulf; Stendera, Sonja

    2014-01-01

    Climate change is expected to cause an increased frequency of extreme events such as heavy floods and major storms. Such stochastic events have an immediate impact on surface water quality, but the long-term effects are largely unknown. In this study, we assess long-term monitoring data from two Swedish headwater catchments affected by extreme weather events. At one site, where nitrogen effects in soil water, groundwater, and stream water were studied after storm-felling and subsequent forest dieback from bark beetle attack, long-term (> 5 years) but relatively modest (generally <1 mg L⁻¹) increases in ammonium (NH(4)-N) and nitrate (NO(3)-N) concentrations were observed in the various aqueous media. At the other site, where effects on benthic fauna were studied in a stream impacted by extreme geophysical disturbances caused by rainstorm-induced flashflood, only short-term (1 year) effects were revealed both regarding diversity and composition of species.

  15. [Handling of misconduct in Swedish research must be improved. More strict investigative procedures, tougher punishments and withdrawals are required].

    PubMed

    Linder, Stig

    2015-12-15

    Scientific misconduct constitutes a severe threat to research. Procedures to handle misconduct must therefore be both efficient and precise. In Sweden, suspected cases of misconduct are handled by the universities themselves. Investigations are generally performed by appointed scientists, leading to unnecessary discussions of the validity of the conclusions made. Sweden has a Central Ethical Review Board but this is infrequently used by the universities. It is an absolute requirement for a university to withdraw incorrect publications from the literature but regulations in this area are lacking in Sweden. The extraordinarily strong legal status of graduate students at Swedish universities leads to slow and costly investigations. Even when found to be guilty of misconduct, students are allowed to defend their PhD theses. In conclusion, there is a large potential for improvement of the regulations and routines for handling scientific misconduct in Sweden.

  16. 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.

  17. 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…

  18. Perceptual masking of boar taint in Swedish fermented sausages.

    PubMed

    Stolzenbach, Sandra; Lindahl, Gunilla; Lundström, Kerstin; Chen, Gang; Byrne, Derek V

    2009-04-01

    Surgical castration of male piglets has traditionally been practiced to avoid development of boar taint in pork meat which can occur if entire male pigs are raised. Boar taint is commonly characterised as exhibiting the odour and flavour of urine and manure. This study involves sensory characterisation of the possibilities to mask boar taint in meat from entire male pigs by fermentation and smoking to maintain high sensory quality in meat products if castration is prohibited. Model and commercial type Swedish fermented sausage products based on low or high levels of boar tainted fat, three different starter cultures and two different levels of smoking were studied. In the model sausages, liquid smoke masked the perception of boar taint. In contrast, the smoking procedure of the commercial sausages was insufficient to totally mask the perception of boar taint. In both the model and commercial sausages, the aroma development from the starter cultures lowered the perception of boar taint but was insufficient for total perceptual masking. Due to the total masking effect of smoking in the model sausages, it was clear that smoke may present a potential solution to remove the perception of boar taint in fermented sausages if the smoking procedure is optimised.

  19. Efficacy and fate of glyphosate on Swedish railway embankments.

    PubMed

    Torstensson, Lennart; Börjesson, Elisabet; Stenström, John

    2005-09-01

    The herbicide glyphosate, N-(phosphonomethyl)glycine, as Spectra (240 g AI litre(-1) SL; Monsanto Europe AB), RoundUp (360 g AI litre(-1) SL; Monsanto) and RoundUp Bio (360 g AI litre(-1) SL; Monsanto), have been used for weed control on Swedish railway embankments since 1986. This article summarizes results from studies of the weed effect and behaviour of glyphosate for the period 1984-2003. Studies on a railway embankment with a range of application rates showed excellent weed control at 5 litre ha(-1) of RoundUp Bio. The appearance of glyphosate and its metabolite AMPA [(aminomethyl)phosphonic acid] in the embankment, eg mobility and persistence, was also studied. Mobility was low in most cases, the main proportion of both glyphosate and AMPA being found in the upper 30-cm layer although minor amounts penetrated to lower depths. The 50% disappearance time of glyphosate was generally <5 months in railway embankments but cases with longer persistence were found. Transport to the groundwater was observed for glyphosate and AMPA in groundwater pipes along tracks. Downward transport appears to be dependent on the application rate, which should not exceed 3 litre ha(-1) of RoundUp Bio to avoid groundwater contamination. A lower rate of glyphosate mixed with a low rate of another herbicide may achieve acceptable weed control and be environmentally safer.

  20. The Swedish Research Council's definition of 'scientific misconduct': a critique.

    PubMed

    Salwén, Håkan

    2015-02-01

    There is no consensus over the proper definition of 'scientific misconduct.' There are differences in opinion not only between countries but also between research institutions in the same country. This is unfortunate. Without a widely accepted definition it is difficult for scientists to adjust to new research milieux. This might hamper scientific innovation and make cooperation difficult. Furthermore, due to the potentially damaging consequences it is important to combat misconduct. But how frequent is it and what measures are efficient? Without an appropriate definition there are no interesting answers to these questions. In order to achieve a high degree of consensus and to foster research integrity, the international dialogue over the proper definition of 'scientific misconduct' must be on going. Yet, the scientific community should not end up with the definition suggested by the Swedish Research Council. The definition the council advocates does not satisfy the ordinary language condition. That is, the definition is not consistent with how 'scientific misconduct' is used by scientists. I will show that this is due to the fact that it refers to false results. I generalise this and argue that no adequate definition of 'scientific misconduct' makes such a reference.

  1. Blood Pressure and Global Risk Assessment in a Swedish Population

    PubMed Central

    Eckner, Jenny; Larsson, Charlotte A.; Råstam, Lennart; Lindblad, Ulf

    2012-01-01

    This study investigated the association between SCORE and the 2007 ESH-ESC blood pressure categories and explored achievements of blood pressure goals considering global risk. In 2001–2005, a random sample of inhabitants aged 30–74 years in southwestern Sweden was invited to a survey of cardiovascular risk factors. The study enrolled 2816 participants (participation rate 76%). Blood pressure was categorized according to the 2007 ESH-ESC guidelines. Global risk of 10-year CVD death was estimated using the Swedish SCORE chart also accounting for additional risk from diabetes (SCORE-DM). SCORE-DM increased in both sexes from optimal blood pressure to manifest hypertension but did not differ between the normal blood pressure categories. However, SCORE-DM became significantly higher among those with temporarily high blood pressure (men 3.3 SD (1.7), women 1.1 (1.8)) and hypertension (3.6 (2.0), 2.0 (2.0)), compared to optimal blood pressure (1.6 (2.9), 0.6 (1.9)). In the presence of both hypertension and diabetes, high-risk subjects dominated (men 76%, women 61%), and correspondingly a major proportion of patients with known hypertension were at high risk at a blood pressure ≥160/100 mm Hg. These findings have strong implications on blood pressure evaluation in clinical practice and support the use of SCORE to evaluate global risk. PMID:22991653

  2. Occurrence of Giardia in Swedish Red Foxes ( Vulpes vulpes ).

    PubMed

    Debenham, John J; Landuyt, Hanne; Troell, Karin; Tysnes, Kristoffer; Robertson, Lucy J

    2017-03-31

    Giardia duodenalis is an intestinal protozoan capable of causing gastrointestinal disease in a range of vertebrate hosts. It is transmitted via the fecal-oral route. Understanding the epidemiology of G. duodenalis in animals is important, both for public health and for the health of the animals it infects. We investigated the occurrence of G. duodenalis in wild Swedish red foxes ( Vulpes vulpes ), with the aim of providing preliminary information on how this abundant predator might be involved in the transmission and epidemiology of G. duodenalis . Fecal samples (n=104) were analysed for G. duodenalis using a commercially available direct immunofluorescent antibody test. Giardia duodenalis cysts were found in 44% (46/104) of samples, with foxes excreting 100 to 140,500 cysts per gram of feces (mean, 4,930; median, 600). Molecular analysis, using PCR with sequencing of PCR amplicons, was performed on fourteen samples, all containing over 2,000 cysts per gram feces. Amplification only occurred in four samples at the tpi gene, sequencing of which revealed assemblage B in all four samples. This study provides baseline information on the role of red foxes in the transmission dynamics of G. duodenalis in Sweden.

  3. Tooth resorption in the Swedish Eurasion lynx (Lynx lynx).

    PubMed

    Pettersson, Ann

    2010-01-01

    The etiology of tooth resorption in the domestic cat remains unknown. The high prevalence and progressive nature of the disease complicates defining healthy control groups. In order to evaluate the possible influence of various life style changes on the prevalence of tooth resorption, healthy control groups are a prerequisite. This paper presents a prevalence study for tooth resorption in a free-ranging wild felidae population. Skulls from 46 free-ranging Eurasian lynx (Lynx lynx) were examined. The age of the animals had previously been estimated based on cementum annuli in the maxillary right canine tooth. The dental examination included both dental probing and radiographic imaging. Complicated fractures of the canine teeth were found in 9/46 (19.5%) skulls. In one fractured canine, apical root resorption and periapical lucency was detected. The root resorption was attributed to inflammatory resorption as a consequence of the initial dental trauma and necrotic pulp. No signs of tooth resorption were found in the remaining teeth. Supernumerary roots were detected in 18/46 skulls (39.1 %). Supernumerary "peg" teeth caudal to the mandibular first molar tooth were detected in 6/46 (13.0%) skulls. Although further studies on dental ultra-structure are needed, the Swedish Eurasian lynx may, in the future, be useful as a healthy comparative model for studies on the etiopathogenesis of tooth resorption in the domestic cat.

  4. Workplace health interventions in small enterprises: a Swedish longitudinal study.

    PubMed

    Vinberg, Stig

    2008-01-01

    This article has a two-fold approach. First, it investigates relationships between work organizational factors, and health and performance outcomes. Second, it compares two change strategy approaches in workplace health interventions by studying changes of these factors and outcomes. The sample consisted of ten Swedish small enterprises including 102 individuals, who answered a before and after questionnaire about organizational factors and outcomes. The leaders were interviewed and answered a questionnaire about performed workplace health interventions. Statistical methods used were reliability tests, correlation analyses and t-tests. Results indicate rather strong links between indicators of respectful leadership, creative work and team spirit, and the outcome indicators self-assessed health and judged workplace adaptability in association with customer satisfaction. The results concerning changes of determinants and outcomes (after workplace health interventions) showed significant differences between enterprises using a broad change strategy and those using an expert/problem-based strategy with the former having more favourable results. The leader interview results also point at obstacles concerning workplace change processes as lack of resources, insufficient competence and influence of external factors. The study results suggest that work organizational factors and integrated models for workplace health intervention are of importance for health and performance outcomes in small enterprises.

  5. Integrating health promotion with quality improvement in a Swedish hospital.

    PubMed

    Astnell, Sandra; von Thiele Schwarz, Ulrica; Hasson, Henna; Augustsson, Hanna; Stenfors-Hayes, Terese

    2016-09-01

    Integration of workplace employee health promotion (HP) and occupational health and safety (OHS) work into organizational quality improvement systems is suggested as a way to strengthen HP and OHS activities in an organization. The aim of this article was to study what consequences integration of HP, OHS and a quality improvement system called kaizen has on the frequency and type of HP and OHS activities. A quasi-experimental study design was used where an integration of the three systems for HP, OHS respectively kaizen, was performed at six intervention units at a Swedish hospital. The remaining six units served as controls. Document analysis of all employees' written improvement suggestions (kaizen notes) during 2013 was conducted. The findings show that the intervention group had more suggestions concerning HP and OHS (n = 114) when compared with the control group (n = 78) and a greater variety of HP and OHS suggestions. In addition, only the intervention group had included HP aspects. In both groups, most kaizen notes with health consideration had a preventive focus rather than rehabilitative. The intervention, i.e. the integration of HP, OHS and kaizen work, had a favourable effect on HP and OHS work when compared with the controls. The results of the study support that this system can work in practice at hospitals.

  6. Lightning location system supervising Swedish power transmission network

    NASA Technical Reports Server (NTRS)

    Melin, Stefan A.

    1991-01-01

    For electric utilities, the ability to prevent or minimize lightning damage on personnel and power systems is of great importance. Therefore, the Swedish State Power Board, has been using data since 1983 from a nationwide lightning location system (LLS) for accurately locating lightning ground strikes. Lightning data is distributed and presented on color graphic displays at regional power network control centers as well as at the national power system control center for optimal data use. The main objectives for use of LLS data are: supervising the power system for optimal and safe use of the transmission and generating capacity during periods of thunderstorms; warning service to maintenance and service crews at power line and substations to end operations hazardous when lightning; rapid positioning of emergency crews to locate network damage at areas of detected lightning; and post analysis of power outages and transmission faults in relation to lightning, using archived lightning data for determination of appropriate design and insulation levels of equipment. Staff have found LLS data useful and economically justified since the availability of power system has increased as well as level of personnel safety.

  7. BYSSINOSIS IN CARDROOM WORKERS IN SWEDISH COTTON MILLS*

    PubMed Central

    Belin, L.; Bouhuys, A.; Hoekstra, W.; Johansson, M.-B.; Lindell, S.-E.; Pool, J.

    1965-01-01

    The prevalence of byssinosis and chronic respiratory symptoms was studied in 117 workers in four Swedish cotton mills. Changes of forced expiratory volume in 0·75 sec. (F.E.V.0·75) during a Monday and a Wednesday were assessed in 64 male workers in four cardrooms in these mills. Dust sampling was performed with weighed millipore filters. Prevalences of byssinosis as judged from the workers' histories were 68%, 55%, 44%, and 25% in the four mills; the lowest prevalence of 25% was found in a mill spinning both high grade cotton yarn and rayon. Among 67 workers in the mills having a byssinosis prevalence of 68% and 55%, 60% were non-smokers, 70% had chronic cough, and 27% had chronic dyspnoea. The F.E.V.0·75 decreased on Monday in workers who gave a history of Monday dyspnoea, and to a lesser degree, but still significantly, in those who did not. In spite of marked differences in fine dust (i.e., dust smaller than 2 mm. diameter) concentrations in the four cardrooms, no significant relations between dust content, byssinosis prevalence, and F.E.V.0·75 changes on Monday could be demonstrated. The prevention and treatment of byssinosis is discussed. Workers at risk should receive a periodical medical examination including at least a spirographical pulmonary function test at intervals of one year or less. PMID:14278797

  8. The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children

    PubMed Central

    2012-01-01

    Background Recent genome-wide association studies have identified a single nucleotide polymorphism within the last intron of MAP2K5 associated with a higher body mass index (BMI) in adults. MAP2K5 is a component of the MAPK-family intracellular signaling pathways, responding to extracellular growth factors such as brain derived neurotrophic factor (BDNF) and nerve growth factor (NGF). In this study, we examined the association of this variant in two cohorts of children from Sweden and Greece. Methods We examine the association of rs2241423 to BMI in a cohort of 474 Swedish children admitted for treatment of childhood obesity and 519 children matched for gender, ethnicity and socioeconomic background from the Stockholm area, as well as a cross-sectional cohort of 2308 Greek school children (Healthy Growth Study). Children were genotyped using a predesigned TaqMan polymorphism assay. Logistic regression was used to test for an association of rs2241423 to obesity in the cohort of Swedish children. Linear regression was used to test for an association of rs2241423 to BMI z-score and phenotypic measurements of body adiposity in the cohort of Greek children. Models were adjusted for age and gender. In the cohort of Greek children the model was also adjusted for stage of pubertal development. Results The minor allele of rs2241423, allele A, was associated with a protective effect against obesity in the cohort of Swedish children (p = 0.029, OR = 0.79 (95% CI: 0.64–0.98)), and with a lower BMI z-score in the cohort of Greek children (p = 0.028, β = −0.092). No association to phenotypic measurements of body fat distribution could be observed in our study. Conclusions rs2241423 was associated with BMI and obesity in two independent European cohorts suggesting a role for MAP2K5 in early weight regulation. PMID:22594783

  9. Risk of other Cancers in Families with Melanoma: Novel Familial Links

    PubMed Central

    Frank, Christoph; Sundquist, Jan; Hemminki, Akseli; Hemminki, Kari

    2017-01-01

    A family history of cutaneous melanoma (‘melanoma’) is a well-established risk factor for melanoma. However, less is known about the possible familial associations of melanoma with other discordant cancers. A risk for discordant cancer may provide useful information about shared genetic and environmental risk factors and it may be relevant background data in clinical genetic counseling. Using the Swedish Family-Cancer Database, we assessed the relative risk (RR) for any cancer in families with increasing numbers of first-degree relatives diagnosed with melanoma, including multiple melanoma, and in reverse order RR for melanoma in families of multiple discordant cancers. Close to 9% of melanoma was familial; among these 92% were in 2-case families and 8% in families with 3 cases or more. Cancers that were associated with melanoma, in at least two independent analyses, included breast, prostate, colorectal, skin and nervous system cancers. Other associations included cancer of unknown primary, acute myeloid leukemia/myelofibrosis and Waldenström macroglobulinemia/myeloma. Significant results, which appear biologically plausible, were also obtained for rare nasal melanoma and mesothelioma. Although small samples sizes and multiple comparisons were of concern, many of the above associations were internally consistent and provide new diverse leads for discordant familial association of melanoma. PMID:28198461

  10. 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…

  11. Street Men, Family Men: Race and Men's Extended Family Integration

    ERIC Educational Resources Information Center

    Sarkisian, Natalia

    2007-01-01

    Disorganization theories postulate that black men have largely abandoned their familial roles. Using the NSFH data, this article refutes the hypothesis of black men's familial disengagement by focusing on extended family integration. Black men are more likely than white men to live with or near extended kin, as well as to frequently see kin in…

  12. Use of Contraception and Attitudes towards Contraceptive Use in Swedish Women - A Nationwide Survey

    PubMed Central

    Kopp Kallner, Helena; Thunell, Louise; Brynhildsen, Jan; Lindeberg, Mia; Gemzell Danielsson, Kristina

    2015-01-01

    Objective To describe contraceptive use and attitudes towards contraceptive use in Sweden which has the highest abortion rate in Western Europe. Secondary objectives were to investigate knowledge of contraceptive methods and outcomes of unplanned and unwanted pregnancies. Design Telephone survey. Setting National survey of women living in Sweden. Population Women between 16 and 49 years. Methods The survey contained 22 questions with free text and multi choice answers on demographics, contraceptive use, knowledge of and attitudes towards contraception, the importance of monthly bleeding and experience of unintended pregnancy. Main Outcome Measures Distribution of use of contraceptive methods and non-use of contraception among Swedish women. Prevalence and outcome of unintended pregnancies. Results A total of 1001 women participated in the survey. Of all women, 721/1001 (72.1%) currently used contraception whereas 268/1001 (26.8%) women did not. Long acting reversible contraception, (LARC; implant and intra uterine contraception) was used by 24.3% of women. The unmet need of contraception in Sweden was estimated at 8.9% (89/1001 women). A total of 781 (78%) women had never experienced an unintended pregnancy whereas 220 (22%) women had had at least one unintended pregnancy. Users and non-users alike stated that one of the most important characteristics of a contraceptive method is its effectiveness. Conclusions Sweden has a large unmet need for contraception. Furthermore, a large proportion of women have experienced at least one unintended pregnancy. Increasing contraceptive use and promotion of LARC is a possible way forward in the effort to reduce the rates of unwanted pregnancies. PMID:25992901

  13. Prevalence of temporomandibular disorder pain in Chinese adolescents compared to an age-matched Swedish population.

    PubMed

    Hongxing, L; Astrøm, A N; List, T; Nilsson, I-M; Johansson, A

    2016-04-01

    This study aimed to (i) assess the prevalence and perceived need for treatment of TMD pain, and its association with socio-economic factors and gender, in adolescents in Xi᾽an, Shaanxi Province, China, and (ii) compare the prevalence and association with gender of TMD pain in Xi᾽an to an age-matched Swedish population. We surveyed Chinese adolescents aged 15 to 19 years in Xi'an, China (n = 5524), using a questionnaire with two-stage stratified sampling and the school as the sampling unit. The study included second-year students at selected high schools. It also included an age-matched Swedish population (n = 17,015) surveyed using the same diagnostic criteria for TMD pain as that used in the Chinese sample. The survey found TMD pain in 14·8% (n = 817) of the Chinese sample and 5·1% (n = 871) of the Swedish sample (P < 0·0001). Girls had significantly more TMD pain than boys in both the Chinese (P < 0·05) and Swedish (P < 0·001) samples. TMD pain increased with age in the Chinese population. Of the Chinese adolescents with TMD pain, 47% reported that they felt a need for treatment. Rural schools, low paternal education levels, poverty, living outside the home, poor general and oral health, and dissatisfaction with teeth all showed significant positive correlations with TMD pain. Prevalence of TMD pain in Chinese adolescents was significantly higher than in the Swedish sample.

  14. Contents of essential and toxic mineral elements in Swedish market-basket diets in 1987.

    PubMed

    Becker, W; Kumpulainen, J

    1991-09-01

    Market baskets containing sixty food items included in the average Swedish diet were purchased from three shops in four major Swedish cities during autumn 1987. Food items were selected on the basis of food-balance-sheet data. Freeze-dried homogenates representative of each city were analysed for twelve essential or toxic mineral elements. The energy content of the market baskets (11.5 MJ) corresponded to the reference value for male adults. At this energy level the contents of calcium (1180 mg), magnesium (300 mg), iron (16 mg), zinc (12 mg) and selenium (44 micrograms) were above or close to the Swedish recommended daily intakes. The contents of manganese (3.7 mg) and molybdenum (150 micrograms) were within and that of copper (1.2 mg) was below the safe and adequate intake values given in the US recommended dietary allowance (Food and Nutrition Board, National Research Council, 1989). The content of nickel was 82 micrograms. The contents of lead (17 micrograms), cadmium (12 micrograms) and mercury (1.8 micrograms) in the daily diet were low compared with the provisional tolerable intakes set by the Joint Food and Agriculture Organization/World Health Organization Expert Committee on Food Additives (World Health Organization, 1972, 1989). The market-basket contents of Ca, Mg, Fe and Zn calculated from values in the Swedish food composition tables were close to the analysed values, indicating that the Swedish food tables provide relevant information for the estimation of the dietary supply of these elements.

  15. Family Violence and Family Physicians

    PubMed Central

    Herbert, Carol P.

    1991-01-01

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

  16. Family Health Conversations have Positive Outcomes on Families - A Mixed Method Research Study

    PubMed Central

    Dorell, Åsa; Isaksson, Ulf; Östlund, Ulrika; Sundin, Karin

    2017-01-01

    Background: Having a family member living in a residential home affects the entire family and can be hard to handle. Family members require encouraging and open communication support from nurses during and after relocation to a residential home. A Family Systems Nursing intervention, “Family Health Conversations” (FamHC) was conducted in order to strengthen the health of families having relatives at residential home for older people. Objectives: The aims of this study were to evaluate the responses to the Family Health Conversations in families with a member living at a residential home for older people and to integrate the empirical results with a theoretical assumption upon which the intervention was based. Methods: A mixed methods research design was used. The Swedish Health-Related Quality of Life Survey and the Family Hardiness Index were administered before and 6 months after the intervention. Qualitative data was collected by semi-structured interviews with each family 6 months post-intervention. The sample included 10 families comprising 22 family members. Result: Main finding was that FamHCs helped family members process their feelings about having a member living at a residential home and made it easier for them to deal with their own situations. FamHCs helped to ease their consciences, improve their emotional well-being, and change their beliefs about their own insufficiency and guilt. Seeing problems from a different perspective facilitated the families’ thinking in a new way. Conclusion: These findings showed that FamHC could be an important type of intervention to improve family functioning and enhance the emotional well-being.

  17. Characteristics of convective snow bands along the Swedish east coast

    NASA Astrophysics Data System (ADS)

    Jeworrek, Julia; Wu, Lichuan; Dieterich, Christian; Rutgersson, Anna

    2017-03-01

    Convective snow bands develop in response to a cold air outbreak from the continent or the frozen sea over the open water surface of lakes or seas. The comparatively warm water body triggers shallow convection due to increased heat and moisture fluxes. Strong winds can align with this convection into wind-parallel cloud bands, which appear stationary as the wind direction remains consistent for the time period of the snow band event, delivering enduring snow precipitation at the approaching coast. The statistical analysis of a dataset from an 11-year high-resolution atmospheric regional climate model (RCA4) indicated 4 to 7 days a year of moderate to highly favourable conditions for the development of convective snow bands in the Baltic Sea region. The heaviest and most frequent lake effect snow was affecting the regions of Gävle and Västervik (along the Swedish east coast) as well as Gdansk (along the Polish coast). However, the hourly precipitation rate is often higher in Gävle than in the Västervik region. Two case studies comparing five different RCA4 model setups have shown that the Rossby Centre atmospheric regional climate model RCA4 provides a superior representation of the sea surface with more accurate sea surface temperature (SST) values when coupled to the ice-ocean model NEMO as opposed to the forcing by the ERA-40 reanalysis data. The refinement of the resolution of the atmospheric model component leads, especially in the horizontal direction, to significant improvement in the representation of the mesoscale circulation process as well as the local precipitation rate and area by the model.

  18. Quadrivalent Human Papillomavirus Vaccine Effectiveness: A Swedish National Cohort Study

    PubMed Central

    2013-01-01

    Background Incidence of condyloma, or genital warts (GW), is the earliest possible disease outcome to measure when assessing the effectiveness of human papillomavirus (HPV) vaccination strategies. Efficacy trials that follow prespecified inclusion and exclusion criteria may not be fully generalizable to real-life HPV vaccination programs, which target a broader segment of the population. We assessed GW incidence after on-demand vaccination with quadrivalent HPV vaccine using individual-level data from the entire Swedish population. Methods An open cohort of girls and women aged 10 to 44 years living in Sweden between 2006 and 2010 (N > 2.2 million) was linked to multiple population registers to identify incident GW in relation to HPV vaccination. For vaccine effectiveness, incidence rate ratios of GW were estimated using time-to-event analyses with adjustment for attained age and parental education level, stratifying on age at first vaccination. Results A total of 124 000 girls and women were vaccinated between 2006 and 2010. Girls and women with at least one university-educated parent were 15 times more likely to be vaccinated before age 20 years than girls and women whose parents did not complete high school (relative risk ratio = 15.45, 95% confidence interval [CI] = 14.65 to 16.30). Among those aged older than 20 years, GW rates declined among the unvaccinated, suggesting that HPV vaccines were preferentially used by women at high risk of GW. Vaccination effectiveness was 76% (95% CI = 73% to 79%) among those who received three doses of the vaccine with their first dose before age 20 years. Vaccine effectiveness was highest in girls vaccinated before age 14 years (effectiveness = 93%, 95% CI = 73% to 98%). Conclusions Young age at first vaccination is imperative for maximizing quadrivalent HPV vaccine effectiveness. PMID:23486550

  19. Using materials research results in new regulations -- The Swedish approach

    SciTech Connect

    Gott, K.

    1995-12-31

    Swedish regulations are normally divided into two sections: the first part is the compulsory text and the second part explains very briefly the ideas behind the regulations and section consists of an interpretive text. This second part explains very briefly the ideas behind the regulations and gives advice as to how to apply the regulations, acceptable testing and analysis methods, and references to other standards and relevant documents. In the new regulations, which were approved by the Board of SKI in September 1994 and are effective from 1st January 1995, a number of innovations have been included concerning chemistry and environmental degradation of the primary pressure boundary in Light Water Reactors. With regard to chemistry SKI will no longer approve the various parameters in the technical specifications (such as conductivity and impurity concentrations) but will require that the utilities have a chemistry control program in place which ensures the integrity of the primary pressure boundary and does not expose it to environments (such as impurities and decontamination chemicals) for which it was not designed. SKI can at any time control that such a program exists and assess its compatibility with these goals, either during routine inspections or as part of special theme inspections. Crack growth rates have been specified for different materials stainless steels, and the nickel base alloy types 600 and 182. Different environments have also been specified: water chemistry within and outside plant specifications as well as normal and hydrogen water chemistry conditions. Stress corrosion cracking in pressurized water reactor systems is also treated separately in the regulations, but not discussed specifically here.

  20. Swedish parents’ interest in preconception genetic carrier screening

    PubMed Central

    Ekstrand Ragnar, Maria; Kihlbom, Ulrik; Larsson, Margareta

    2016-01-01

    Introduction Genetic technologies advance rapidly. It is possible to undergo genetic carrier screening before pregnancy to examine genetic risks to future offspring. We aimed to investigate parents’ interest and motives towards preconception genetic carrier screening (PCS) as well as factors associated with interest in PCS. Material and methods Our study sample consists of 777 parent couples within the longitudinal Swedish Pregnancy Planning study. Women responded to questionnaires at three occasions: in early pregnancy, late pregnancy, and one year after childbirth. Male partners responded to one questionnaire one year after childbirth. Results One-third of the parents were positive (30% versus 34% of women and men, respectively), less than a third were negative (26% versus 28%), and 45% versus 38% were uncertain about whether to consider PCS before a future pregnancy. No differences in PCS interest were found between women and men (P = 0.091), but a higher proportion of women were concerned about negative consequences (53% versus 46%, P < 0.003) and were ‘opposed to such a way of child selection’ (31.8% versus 25.2%, P = 0.002). Factors associated with PCS interest were experiences of prenatal diagnostics and positive attitudes towards finding out or choosing sex of one’s child (women), and prenatal diagnostics, self-rated poor health, and pregnancy planning (men). Conclusion Both women and men had relatively high uncertainty towards PCS, but women were more concerned about negative consequences. The future extent of the clinical utility of PCS is currently unknown, but parents’ interests and doubts are important aspects to consider. PMID:27647125