Browsing by Subject "POPULATION"

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  • Sipilä, Pyry; Gulnara, Harrasova; Mustelin, Linda; Rose, Richard J.; Kaprio, Jaakko; Keski-Rahkonen, Anna (2017)
    Since medieval times, an association between religiosity and anorexia nervosa has been suggested, but few systematic studies exist. This study examines in a nationwide setting whether personal or family religiosity is associated with lifetime anorexia nervosa among women in adolescence and early adulthood. Women (N = 2,825) from the 1975 to 1979 birth cohorts of Finnish twins were screened for lifetime DSM-5 anorexia nervosa (N = 92). Parental religiosity was assessed by self-report when the women were aged 16 years. The women self-reported their religiosity at ages 16 and 22 to 27 years. Parental religiosity did not increase the risk of lifetime anorexia nervosa, and neither did religiosity of the women themselves in adolescence. In early adulthood, a J-shaped curve was compatible with the data, indicating increased risk both at low and high levels of religiosity, but this result was statistically non-significant. Religiosity was weakly negatively correlated with body dissatisfaction. There was some suggestive evidence for socioregional variation in the association of religiosity with lifetime anorexia nervosa. In this first population study to directly address religiosity and anorexia nervosa, no evidence was found for a significant association of religiosity with anorexia nervosa either at the personal or family level. Some regional differences are possible. A modest protective association of religiosity with body dissatisfaction is also possible. Despite compelling case descriptions of holy anorexia, religiosity does not appear to be a central factor in the development of anorexia nervosa in Finland, a highly secularized Christian country.
  • Prokopenko, Inga; Poon, Wenny; Maegi, Reedik; Prasad, Rashmi B.; Salehi, S. Albert; Almgren, Peter; Osmark, Peter; Bouatia-Naji, Nabila; Wierup, Nils; Fall, Tove; Stancakova, Alena; Barker, Adam; Lagou, Vasiliki; Osmond, Clive; Xie, Weijia; Lahti, Jari; Jackson, Anne U.; Cheng, Yu-Ching; Liu, Jie; O'Connell, Jeffrey R.; Blomstedt, Paul A.; Fadista, Joao; Alkayyali, Sami; Dayeh, Tasnim; Ahlqvist, Emma; Taneera, Jalal; Lecoeur, Cecile; Kumar, Ashish; Hansson, Ola; Hansson, Karin; Voight, Benjamin F.; Kang, Hyun Min; Levy-Marchal, Claire; Vatin, Vincent; Palotie, Aarno; Syvanen, Ann-Christine; Mari, Andrea; Weedon, Michael N.; Loos, Ruth J. F.; Ong, Ken K.; Nilsson, Peter; Isomaa, Bo; Tuomi, Tiinamaija; Wareham, Nicholas J.; Stumvoll, Michael; Widen, Elisabeth; Lakka, Timo A.; Langenberg, Claudia; Tonjes, Anke; Rauramaa, Rainer; Kuusisto, Johanna; Frayling, Timothy M.; Froguel, Philippe; Walker, Mark; Eriksson, Johan G.; Ling, Charlotte; Kovacs, Peter; Ingelsson, Erik; McCarthy, Mark I.; Shuldiner, Alan R.; Silver, Kristi D.; Laakso, Markku; Groop, Leif; Lyssenko, Valeriya (2014)
  • Bentham, James; Di Cesare, Mariachiara; Stevens, Gretchen A.; Zhou, Bin; Bixby, Honor; Cowan, Melanie; Fortunato, Lea; Bennett, James E.; Danaei, Goodarz; Hajifathalian, Kaveh; Lu, Yuan; Riley, Leanne M.; Laxmaiah, Avula; Kontis, Vasilis; Paciorek, Christopher J.; Riboli, Elio; Ezzati, Majid; Abdeen, Ziad A.; Hamid, Zargar Abdul; Abu-Rmeileh, Niveen M.; Acosta-Cazares, Benjamin; Adams, Robert; Aekplakorn, Wichai; Aguilar-Salinas, Carlos A.; Agyemang, Charles; Ahmadvand, Alireza; Ahrens, Wolfgang; Al-Hazzaa, Hazzaa M.; Al-Othman, Amani Rashed; Al Raddadi, Rajaa; Ali, Mohamed M.; Alkerwi, Ala'a; Alvarez-Pedrerol, Mar; Aly, Eman; Amouyel, Philippe; Amuzu, Antoinette; Andersen, Lars Bo; Anderssen, Sigmund A.; Anjana, Ranjit Mohan; Aounallah-Skhiri, Hajer; Ariansen, Inger; Aris, Tahir; Arlappa, Nimmathota; Arveiler, Dominique; Assah, Felix K.; Avdicova, Maria; Azizi, Fereidoun; Babu, Bontha V.; Peltonen, Markku; Salonen, Jukka; NCD Risk Factor Collaboration NCD- (2016)
    Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.522.7) and 16.5 cm (13.319.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
  • Thorgeirsson, T. E.; Gudbjartsson, D. F.; Sulem, P.; Besenbacher, S.; Styrkarsdottir, U.; Thorleifsson, G.; Walters, G. B.; Furberg, H.; Sullivan, P. F.; Marchini, J.; McCarthy, M. I.; Steinthorsdottir, V.; Thorsteinsdottir, U.; Stefansson, K.; TAG Consortium; Oxford-GSK Consortium; ENGAGE Consortium; Kaprio, Jaakko; Tuomilehto, Jaakko; Shen, Huei-Yi (2013)
  • Suomalainen, L.; Haravuori, H.; Berg, N.; Kiviruusu, O.; Marttunen, M. (2011)
    Background: In November 2007, a student shot eight people and himself at Jokela High School, Finland. This study aims to evaluate the long-term effects of exposure to a school shooting among adolescents. Method: Associations between psychological outcomes and background factors were analysed and compared with "comparison students" four months after the incident. A questionnaire including Impact of Event Scale (IES) and General Health Questionnaire (GHQ-36) was used. Results: Half of the females and a third of the males suffered from posttraumatic distress. High level of posttraumatic distress (IES >= 35), predicting PTSD, was observed in 27% of the females and 7% of the males. The odds ratio was 6.4 (95% confidence interval 3.5-10.5) for having high levels of posttraumatic distress. Severe or extreme exposure and female gender were found to increase the risk. Forty-two percent of the females and 16% of the males had psychiatric disturbance (GHQ >= 9). Severe or extreme exposure, older age and female gender increased the risk. Perceived support from family and friends was found to be protective. Conclusions: The observed risk and protective factors were similar to earlier studies. Follow-up will be essential in identifying factors predicting persisting trauma-related symptoms in adolescence. (C) 2010 Elsevier Masson SAS. All rights reserved.
  • Pausch, Hubert; Venhoranta, Heli; Wurmser, Christine; Hakala, Kalle; Iso-Touru, Terhi; Sironen, Anu; Vingborg, Rikke K.; Lohi, Hannes; Soderquist, Lennart; Fries, Ruedi; Andersson, Magnus (2016)
    Background: Artificial insemination is widely used in many cattle breeding programs. Semen samples of breeding bulls are collected and closely examined immediately after collection at artificial insemination centers. Only ejaculates without anomalous findings are retained for artificial insemination. Although morphological aberrations of the spermatozoa are a frequent reason for discarding ejaculates, the genetic determinants underlying poor semen quality are scarcely understood. Results: A tail stump sperm defect was observed in three bulls of the Swedish Red cattle breed. The spermatozoa of affected bulls were immotile because of severely disorganized tails indicating disturbed spermatogenesis. We genotyped three affected bulls and 18 unaffected male half-sibs at 46,035 SNPs and performed homozygosity mapping to map the fertility disorder to an 8.42 Mb interval on bovine chromosome 13. The analysis of whole-genome re-sequencing data of an affected bull and 300 unaffected animals from eleven cattle breeds other than Swedish Red revealed a 1 bp deletion (Chr13: 24,301,425 bp, ss1815612719) in the eleventh exon of the armadillo repeat containing 3-encoding gene (ARMC3) that was compatible with the supposed recessive mode of inheritance. The deletion is expected to alter the reading frame and to induce premature translation termination (p.A451fs26). The mutated protein is shortened by 401 amino acids (46 %) and lacks domains that are likely essential for normal protein function. Conclusions: We report the phenotypic and genetic characterization of a sterilizing tail stump sperm defect in the Swedish Red cattle breed. Exploiting high-density genotypes and massive re-sequencing data enabled us to identify the most likely causal mutation for the fertility disorder in bovine ARMC3. Our results provide the basis for monitoring the mutated variant in the Swedish Red cattle population and for the early identification of infertile animals.
  • Coviello, Andrea D.; Haring, Robin; Wellons, Melissa; Vaidya, Dhananjay; Lehtimaki, Terho; Keildson, Sarah; Lunetta, Kathryn L.; He, Chunyan; Fornage, Myriam; Lagou, Vasiliki; Mangino, Massimo; Onland-Moret, N. Charlotte; Chen, Brian; Eriksson, Joel; Garcia, Melissa; Mei, Yong; Koster, Annemarie; Lohman, Kurt; Lyytikainen, Leo-Pekka; Petersen, Ann-Kristin; Prescott, Jennifer; Stolk, Lisette; Vandenput, Liesbeth; Wood, Andrew R.; Zhuang, Wei Vivian; Ruokonen, Aimo; Hartikainen, Anna-Liisa; Pouta, Anneli; Bandinelli, Stefania; Biffar, Reiner; Brabant, Georg; Cox, David G.; Chen, Yuhui; Cummings, Steven; Ferrucci, Luigi; Gunter, Marc J.; Hankinson, Susan E.; Martikainen, Hannu; Hofman, Albert; Homuth, Georg; Illig, Thomas; Jansson, John-Olov; Johnson, Andrew D.; Karasik, David; Karlsson, Magnus; Kettunen, Johannes; Kiel, Douglas P.; Kraft, Peter; Liu, Jingmin; Ljunggren, Osten; Lorentzon, Mattias; Maggio, Marcello; Markus, Marcello R. P.; Mellstrom, Dan; Miljkovic, Iva; Mirel, Daniel; Nelson, Sarah; Papunen, Laure Morin; Peeters, Petra H. M.; Prokopenko, Inga; Raffel, Leslie; Reincke, Martin; Reiner, Alex P.; Rexrode, Kathryn; Rivadeneira, Fernando; Schwartz, Stephen M.; Siscovick, David; Soranzo, Nicole; Stockl, Doris; Tworoger, Shelley; Uitterlinden, Andre G.; van Gils, Carla H.; Vasan, Ramachandran S.; Wichmann, H. -Erich; Zhai, Guangju; Bhasin, Shalender; Bidlingmaier, Martin; Chanock, Stephen J.; De Vivo, Immaculata; Harris, Tamara B.; Hunter, David J.; Kahonen, Mika; Liu, Simin; Ouyang, Pamela; Spector, Tim D.; van der Schouw, Yvonne T.; Viikari, Jorma; Wallaschofski, Henri; McCarthy, Mark I.; Frayling, Timothy M.; Murray, Anna; Franks, Steve; Jarvelin, Marjo-Riitta; de Jong, Frank H.; Raitakari, Olli; Teumer, Alexander; Ohlsson, Claes; Murabito, Joanne M.; Perry, John R. B. (2012)
  • Service, S. K.; Verweij, K. J. H.; Lahti, J.; Congdon, E.; Ekelund, J.; Hintsanen, M.; Räikkönen, Katri; Lehtimaki, T.; Kahonen, M.; Widen, E.; Taanila, A.; Veijola, J.; Heath, A. C.; Madden, P. A. F.; Montgomery, G. W.; Sabatti, C.; Jarvelin, M-R; Palotie, A.; Raitakari, O.; Viikari, J.; Martin, N. G.; Eriksson, J. G.; Keltikangas-Järvinen, Liisa; Wray, N. R.; Freimer, N. B. (2012)
  • Purps, Josephine; Siegert, Sabine; Willuweit, Sascha; Nagy, Marion; Alves, Cintia; Salazar, Renato; Angustia, Sheila M. T.; Santos, Lorna H.; Anslinger, Katja; Bayer, Birgit; Ayub, Qasim; Wei, Wei; Xue, Yali; Tyler-Smith, Chris; Bafalluy, Miriam Baeta; Martinez-Jarreta, Begona; Egyed, Balazs; Balitzki, Beate; Tschumi, Sibylle; Ballard, David; Court, Denise Syndercombe; Barrantes, Xinia; Bassler, Gerhard; Wiest, Tina; Berger, Burkhard; Niederstaetter, Harald; Parson, Walther; Davis, Carey; Budowle, Bruce; Burri, Helen; Borer, Urs; Koller, Christoph; Carvalho, Elizeu F.; Domingues, Patricia M.; Chamoun, Wafaa Takash; Coble, Michael D.; Hill, Carolyn R.; Corach, Daniel; Caputo, Mariela; D'Amato, Maria E.; Davison, Sean; Decorte, Ronny; Larmuseau, Maarten H. D.; Ottoni, Claudio; Rickards, Olga; Lu, Di; Jiang, Chengtao; Dobosz, Tadeusz; Jonkisz, Anna; Frank, William E.; Furac, Ivana; Gehrig, Christian; Castella, Vincent; Grskovic, Branka; Haas, Cordula; Wobst, Jana; Hadzic, Gavrilo; Drobnic, Katja; Honda, Katsuya; Hou, Yiping; Zhou, Di; Li, Yan; Hu, Shengping; Chen, Shenglan; Immel, Uta-Dorothee; Lessig, Rudiger; Jakovski, Zlatko; Ilievska, Tanja; Klann, Anja E.; Garcia, Cristina Cano; de Knijff, Peter; Kraaijenbrink, Thirsa; Kondili, Aikaterini; Miniati, Penelope; Vouropoulou, Maria; Kovacevic, Lejla; Marjanovic, Damir; Lindner, Iris; Mansour, Issam; Al-Azem, Mouayyad; El Andari, Ansar; Marino, Miguel; Furfuro, Sandra; Locarno, Laura; Martin, Pablo; Luque, Gracia M.; Alonso, Antonio; Miranda, Luis Souto; Moreira, Helena; Mizuno, Natsuko; Iwashima, Yasuki; Moura Neto, Rodrigo S.; Nogueira, Tatiana L. S.; Silva, Rosane; Nastainczyk-Wulf, Marina; Edelmann, Jeanett; Kohl, Michael; Nie, Shengjie; Wang, Xianping; Cheng, Baowen; Nunez, Carolina; Martinez de Pancorbo, Marian; Olofsson, Jill K.; Morling, Niels; Onofri, Valerio; Tagliabracci, Adriano; Pamjav, Horolma; Volgyi, Antonia; Barany, Gusztav; Pawlowski, Ryszard; Maciejewska, Agnieszka; Pelotti, Susi; Pepinski, Witold; Abreu-Glowacka, Monica; Phillips, Christopher; Cardenas, Jorge; Rey-Gonzalez, Danel; Salas, Antonio; Brisighelli, Francesca; Capelli, Cristian; Toscanini, Ulises; Piccinini, Andrea; Piglionica, Marilidia; Baldassarra, Stefania L.; Ploski, Rafal; Konarzewska, Magdalena; Jastrzebska, Emila; Robino, Carlo; Sajantila, Antti; Palo, Jukka U.; Guevara, Evelyn; Salvador, Jazelyn; Corazon De Ungria, Maria; Russell Rodriguez, Jae Joseph; Schmidt, Ulrike; Schlauderer, Nicola; Saukko, Pekka; Schneider, Peter M.; Sirker, Miriam; Shin, Kyoung-Jin; Oh, Yu Na; Skitsa, Iulia; Ampati, Alexandra; Smith, Tobi-Gail; de Calvit, Lina Solis; Stenzl, Vlastimil; Capal, Thomas; Tillmar, Andreas; Nilsson, Helena; Turrina, Stefania; De Leo, Domenico; Verzeletti, Andrea; Cortellini, Venusia; Wetton, Jon H.; Gwynne, Gareth M.; Jobling, Mark A.; Whittle, Martin R.; Sumita, Denilce R.; Wolanska-Nowak, Paulina; Yong, Rita Y. Y.; Krawczak, Michael; Nothnagel, Michael; Roewer, Lutz (2014)
    In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.
  • Lamichhane, Santosh; Ahonen, Linda; Dyrlund, Thomas Sparholt; Siljander, Heli; Hyöty, Heikki; Ilonen, Jorma; Toppari, Jorma; Veijola, Riitta; Hyötyläinen, Tuulia; Knip, Mikael; Oresic, Matej (2018)
    Early prediction and prevention of type 1 diabetes (T1D) are currently unmet medical needs. Previous metabolomics studies suggest that children who develop T1D are characterised by a distinct metabolic profile already detectable during infancy, prior to the onset of islet autoimmunity. However, the specificity of persistent metabolic disturbances in relation T1D development has not yet been established. Here, we report a longitudinal plasma lipidomics dataset from (1) 40 children who progressed to T1D during follow-up, (2) 40 children who developed single islet autoantibody but did not develop T1D and (3) 40 matched controls (6 time points: 3, 6, 12, 18, 24 and 36 months of age). This dataset may help other researchers in studying age-dependent progression of islet autoimmunity and T1D as well as of the age-dependence of lipidomic profiles in general. Alternatively, this dataset could more broadly used for the development of methods for the analysis of longitudinal multivariate data.
  • Leeb, Tosso; Leuthard, Fabienne; Jagannathan, Vidhya; Kiener, Sarah; Letko, Anna; Roosje, Petra; Welle, Monika M.; Gailbreath, Katherine L.; Cannon, Andrea; Linek, Monika; Banovic, Frane; Olivry, Thierry; White, Stephen D.; Batcher, Kevin; Bannasch, Danika; Minor, Katie M.; Mickelson, James R.; Hytönen, Marjo K.; Lohi, Hannes; Mauldin, Elizabeth A.; Casal, Margret L. (2020)
    Cutaneous lupus erythematosus (CLE) in humans encompasses multiple subtypes that exhibit a wide array of skin lesions and, in some cases, are associated with the development of systemic lupus erythematosus (SLE). We investigated dogs with exfoliative cutaneous lupus erythematosus (ECLE), a dog-specific form of chronic CLE that is inherited as a monogenic autosomal recessive trait. A genome-wide association study (GWAS) with 14 cases and 29 controls confirmed a previously published result that the causative variant maps to chromosome 18. Autozygosity mapping refined the ECLE locus to a 493 kb critical interval. Filtering of whole genome sequence data from two cases against 654 controls revealed a single private protein-changing variant in this critical interval, UNC93B1:c.1438C>A or p.Pro480Thr. The homozygous mutant genotype was exclusively observed in 23 ECLE affected German Shorthaired Pointers and an ECLE affected Vizsla, but absent from 845 controls. UNC93B1 is a transmembrane protein located in the endoplasmic reticulum and endolysosomes, which is required for correct trafficking of several Toll-like receptors (TLRs). The p.Pro480Thr variant is predicted to affect the C-terminal tail of the UNC93B1 that has recently been shown to restrict TLR7 mediated autoimmunity via an interaction with syndecan binding protein (SDCBP). The functional knowledge on UNC93B1 strongly suggests that p.Pro480Thr is causing ECLE in dogs. These dogs therefore represent an interesting spontaneous model for human lupus erythematosus. Our results warrant further investigations of whether genetic variants affecting the C-terminus of UNC93B1 might be involved in specific subsets of CLE or SLE cases in humans and other species.
  • Drug-Induced Liver Injury Network; Int DILI Consortium iDILIC; Cirulli, Elizabeth T.; Nicoletti, Paola; Laitinen, Tarja (2019)
    BACKGROUND & AIMS: We performed genetic analyses of a multiethnic cohort of patients with idiosyncratic drug-induced liver injury (DILI) to identify variants associated with susceptibility. METHODS: We performed a genome-wide association study of 2048 individuals with DILI (cases) and 12,429 individuals without (controls). Our analysis included subjects of European (1806 cases and 10,397 controls), African American (133 cases and 1,314 controls), and Hispanic (109 cases and 718 controls) ancestry. We analyzed DNA from 113 Icelandic cases and 239,304 controls to validate our findings. RESULTS: We associated idiosyncratic DILI with rs2476601, a nonsynonymous polymorphism that encodes a substitution of tryptophan with arginine in the protein tyrosine phosphatase, nonreceptor type 22 gene (PTPN22) (odds ratio [OR] 1.44; 95% confidence interval [CI] 1.28-1.62; P = 1.2 x 10(-9) and replicated the finding in the validation set (OR 1.48; 95% CI 1.09-1.99; P =.01). The minor allele frequency showed the same effect size (OR > 1) among ethnic groups. The strongest association was with amoxicillin and clavulanate-associated DILI in persons of European ancestry (OR 1.62; 95% CI 1.32-1.98; P = 4.0 x 10(-6); allele frequency = 13.3%), but the polymorphism was associated with DILI of other causes (OR 1.37; 95% CI 1.21-1.56; P = 1.5 x 10(-6); allele frequency = 11.5%). Among amoxicillin-and clavulanate-associated cases of European ancestry, rs2476601 doubled the risk for DILI among those with the HLA risk alleles A* 02: 01 and DRB1* 15: 01. CONCLUSIONS: In a genome-wide association study, we identified rs2476601 in PTPN22 as a non-HLA variant that associates with risk of liver injury caused by multiple drugs and validated our finding in a separate cohort. This variant has been associated with increased risk of autoimmune diseases, providing support for the concept that alterations in immune regulation contribute to idiosyncratic DILI.
  • Jousi, Mikko O.; Erkkilä, Jukka; Varjonen, Mari; Soiva, Martti; Hukkinen, Katja; Sequeiros, Roberto Blanco (2019)
    Background Digital breast tomosynthesis (DBT) is gaining popularity in breast imaging. There are several different technical approaches for conducting DBT imaging. Purpose To determine optimal imaging parameters, test patient friendliness, evaluate the initial diagnostic performance, and describe diagnostic advances possible with the new Continuous Sync-and-Shoot method. Material and Methods Thirty-six surgical breast specimens were imaged with digital mammography (DM) and a prototype of a DBT system (Planmed Oy, Helsinki, Finland). We tested the patient friendliness of the sync-and-shoot movement without radiation exposure in eight volunteers. Different imaging parameters were tested with 20 specimens to identify the optimal combination: angular range 30 degrees, 40 degrees, and 60 degrees; pixel binning; Rhodium (Rh) and Silver (Ag) filtrations; and different kV and mAs values. Two breast radiologists evaluated 16 DM and DBT image pairs and rated six different image properties. Imaging modalities were compared with paired t-test. Results The Continuous Sync-and-Shoot method produced diagnostically valid images. Five out of eight volunteers felt no/minimal discomfort, three experienced mild discomfort from the tilting movement of the detector, with the motion being barely recognized. The combination of 30 degrees, Ag filtering, and 2 x 2 pixel binning produced the best image quality at an acceptable dose level. DBT was significantly better in all six evaluated properties (P <0.05). Mean Dose(DBT)/Dose(DM) ratio was 1.22 (SD = 0.42). Conclusion The evaluated imaging method is feasible for imaging and analysing surgical breast specimens and DBT is significantly better than DM in image evaluation.
  • Fritsch, Coralie; Campillo, Fabien; Ovaskainen, Otso (2017)
    We propose a numerical approach to study the invasion fitness of a mutant and to determine evolutionary singular strategies in evolutionary structured models in which the competitive exclusion principle holds. Our approach is based on a dual representation, which consists of the modeling of the small size mutant population by a stochastic model and the computation of its corresponding deterministic model. The use of the deterministic model greatly facilitates the numerical determination of the feasibility of invasion as well as the convergence-stability of the evolutionary singular strategy. Our approach combines standard adaptive dynamics with the link between the mutant survival criterion in the stochastic model and the sign of the eigenvalue in the corresponding deterministic model. We present our method in the context of a mass-structured individual-based chemostat model. We exploit a previously derived mathematical relationship between stochastic and deterministic representations of the mutant population in the chemostat model to derive a general numerical method for analyzing the invasion fitness in the stochastic models. Our method can be applied to the broad class of evolutionary models for which a link between the stochastic and deterministic invasion fitnesses can be established. (C) 2017 Elsevier Inc. All rights reserved.
  • Rivas, Manuel A.; Graham, Daniel; Sulem, Patrick; Stevens, Christine; Desch, A. Nicole; Goyette, Philippe; Gudbjartsson, Daniel; Jonsdottir, Ingileif; Thorsteinsdottir, Unnur; Degenhardt, Frauke; Mucha, Soeren; Kurki, Mitja I.; Li, Dalin; D'Amato, Mauro; Annese, Vito; Vermeire, Severine; Weersma, Rinse K.; Halfvarson, Jonas; Paavola-Sakki, Anu Liisa Paulina; Lappalainen, Anne Maarit; Lek, Monkol; Cummings, Beryl; Tukiainen, Taru; Haritunians, Talin; Halme, Leena; Koskinen, Lotta L. E.; Ananthakrishnan, Ashwin N.; Luo, Yang; Heap, Graham A.; Visschedijk, Marijn C.; MacArthur, Daniel G.; Neale, Benjamin M.; Ahmad, Tariq; Anderson, Carl A.; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Cho, Judy H.; Palotie, Aarno; Saavalainen, Paivi; Kontula, Kimmo; Farkkila, Martti; McGovern, Dermot P. B.; Franke, Andre; Stefansson, Kari; Rioux, John D.; Xavier, Ramnik J.; Daly, Mark J. (2016)
    Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF = up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P = 6.89 x 10(-7), odds ratio = 0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
  • Shiri, Rahman; Heliövaara, Markku; Ahola, Kirsi; Kaila-Kangas, Leena; Haukka, Eija; Kausto, Johanna; Saastamoinen, Peppiina; Leino-Arjas, Päivi; Lallukka, Tea (2018)
    Objective This study aimed to develop and validate a risk screening tool using a points system to assess the risk of future disability retirement due to musculoskeletal disorders (MSD). Methods The development population, the Health 2000 Survey, consisted of a nationally representative sample of Finnish employees aged 30-60 years (N=3676), and the validation population, the Helsinki Health Study, consisted of employees of the City of Helsinki aged 40-60 years (N=6391). Both surveys were linked to data on disability retirement awards due to MSD from national register for an 11-year follow-up. Results The discriminative ability of the model with seven predictors was good (Gonen and Heller's K concordance statistic=0.821). We gave points to seven predictors: sex-dependent age, level of education, pain limiting daily activities, multisite musculoskeletal pain, history of arthritis, and surgery for a spinal disorder or carpal tunnel syndrome. A score of >= 3 out of 7 (top 30% of the index) had good sensitivity (83%) and specificity (70%). Individuals at the top 30% of the risk index were at 29 [95% confidence interval (CI) 15-55) times higher risk of disability retirement due to MSD than those at the bottom 40%. Conclusion This easy-to-use screening tool based on self-reported risk factor profiles can help identify individuals at high risk for disability retirement due to MSD.
  • Huusko, Johanna M.; Karjalainen, Minna K.; Mahlman, Mari; Haataja, Ritva; Kari, M. Anneli; Andersson, Sture; Toldi, Gergely; Tammela, Outi; Ramet, Mika; Lavoie, Pascal M.; Hallman, Mikko (2014)
  • Silventoinen, Karri; Volanen, Salla-Maarit; Vuoksimaa, Eero; Rose, Richard J.; Suominen, Sakari; Kaprio, Jaakko (2014)
  • Carlsson, Annelie; Shepherd, Maggie; Ellard, Sian; Weedon, Michael; Lernmark, Ake; Forsander, Gun; Colclough, Kevin; Brahimi, Qefsere; Valtonen-Andre, Camilla; Ivarsson, Sten A.; Elding Larsson, Helena; Samuelsson, Ulf; Ortqvist, Eva; Groop, Leif; Ludvigsson, Johnny; Marcus, Claude; Hattersley, Andrew T. (2020)
    OBJECTIVE Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory clinical features at diabetes diagnosis of patients with glucokinase (GCK), hepatocyte nuclear factor-1A (HNF1A), and HNF4A MODY in the pediatric population. RESEARCH DESIGN AND METHODS Swedish patients (n = 3,933) aged 1-18 years, diagnosed with diabetes May 2005 to December 2010, were recruited from the national consecutive prospective cohort Better Diabetes Diagnosis. Clinical data, islet autoantibodies (GAD insulinoma antigen-2, zinc transporter 8, and insulin autoantibodies), HLA type, and C-peptide were collected at diagnosis. MODY was identified by sequencing GCK, HNF1A, and HNF4A, through either routine clinical or research testing. RESULTS The minimal prevalence of MODY was 1.2%. Discriminatory factors for MODY at diagnosis included four islet autoantibody negativity (100% vs. 11% not-known MODY; P = 2 x 10(-44)), HbA(1c) (7.0% vs. 10.7% [53 vs. 93 mmol/mol]; P = 1 x 10(-20)), plasma glucose (11.7 vs. 26.7 mmol/L; P = 3 x 10(-19)), parental diabetes (63% vs. 12%; P = 1 x 10(-15)), and diabetic ketoacidosis (0% vs. 15%; P = 0.001). Testing 303 autoantibody-negative patients identified 46 patients with MODY (detection rate 15%). Limiting testing to the 73 islet autoantibody-negative patients with HbA(1c)
  • Lavikainen, Piia; Korhonen, Maarit Jaana; Huupponen, Risto; Helin-Salmivaara, Arja (2015)