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  • 1
    Publication Date: 2013-06-01
    Description: A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three replicate. Estimated effects sizes are small (coefficient of determination R(2) approximately 0.02%), approximately 1 month of schooling per allele. A linear polygenic score from all measured SNPs accounts for approximately 2% of the variance in both educational attainment and cognitive function. Genes in the region of the loci have previously been associated with health, cognitive, and central nervous system phenotypes, and bioinformatics analyses suggest the involvement of the anterior caudate nucleus. These findings provide promising candidate SNPs for follow-up work, and our effect size estimates can anchor power analyses in social-science genetics.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751588/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751588/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rietveld, Cornelius A -- Medland, Sarah E -- Derringer, Jaime -- Yang, Jian -- Esko, Tonu -- Martin, Nicolas W -- Westra, Harm-Jan -- Shakhbazov, Konstantin -- Abdellaoui, Abdel -- Agrawal, Arpana -- Albrecht, Eva -- Alizadeh, Behrooz Z -- Amin, Najaf -- Barnard, John -- Baumeister, Sebastian E -- Benke, Kelly S -- Bielak, Lawrence F -- Boatman, Jeffrey A -- Boyle, Patricia A -- Davies, Gail -- de Leeuw, Christiaan -- Eklund, Niina -- Evans, Daniel S -- Ferhmann, Rudolf -- Fischer, Krista -- Gieger, Christian -- Gjessing, Hakon K -- Hagg, Sara -- Harris, Jennifer R -- Hayward, Caroline -- Holzapfel, Christina -- Ibrahim-Verbaas, Carla A -- Ingelsson, Erik -- Jacobsson, Bo -- Joshi, Peter K -- Jugessur, Astanand -- Kaakinen, Marika -- Kanoni, Stavroula -- Karjalainen, Juha -- Kolcic, Ivana -- Kristiansson, Kati -- Kutalik, Zoltan -- Lahti, Jari -- Lee, Sang H -- Lin, Peng -- Lind, Penelope A -- Liu, Yongmei -- Lohman, Kurt -- Loitfelder, Marisa -- McMahon, George -- Vidal, Pedro Marques -- Meirelles, Osorio -- Milani, Lili -- Myhre, Ronny -- Nuotio, Marja-Liisa -- Oldmeadow, Christopher J -- Petrovic, Katja E -- Peyrot, Wouter J -- Polasek, Ozren -- Quaye, Lydia -- Reinmaa, Eva -- Rice, John P -- Rizzi, Thais S -- Schmidt, Helena -- Schmidt, Reinhold -- Smith, Albert V -- Smith, Jennifer A -- Tanaka, Toshiko -- Terracciano, Antonio -- van der Loos, Matthijs J H M -- Vitart, Veronique -- Volzke, Henry -- Wellmann, Jurgen -- Yu, Lei -- Zhao, Wei -- Allik, Juri -- Attia, John R -- Bandinelli, Stefania -- Bastardot, Francois -- Beauchamp, Jonathan -- Bennett, David A -- Berger, Klaus -- Bierut, Laura J -- Boomsma, Dorret I -- Bultmann, Ute -- Campbell, Harry -- Chabris, Christopher F -- Cherkas, Lynn -- Chung, Mina K -- Cucca, Francesco -- de Andrade, Mariza -- De Jager, Philip L -- De Neve, Jan-Emmanuel -- Deary, Ian J -- Dedoussis, George V -- Deloukas, Panos -- Dimitriou, Maria -- Eiriksdottir, Guethny -- Elderson, Martin F -- Eriksson, Johan G -- Evans, David M -- Faul, Jessica D -- Ferrucci, Luigi -- Garcia, Melissa E -- Gronberg, Henrik -- Guethnason, Vilmundur -- Hall, Per -- Harris, Juliette M -- Harris, Tamara B -- Hastie, Nicholas D -- Heath, Andrew C -- Hernandez, Dena G -- Hoffmann, Wolfgang -- Hofman, Adriaan -- Holle, Rolf -- Holliday, Elizabeth G -- Hottenga, Jouke-Jan -- Iacono, William G -- Illig, Thomas -- Jarvelin, Marjo-Riitta -- Kahonen, Mika -- Kaprio, Jaakko -- Kirkpatrick, Robert M -- Kowgier, Matthew -- Latvala, Antti -- Launer, Lenore J -- Lawlor, Debbie A -- Lehtimaki, Terho -- Li, Jingmei -- Lichtenstein, Paul -- Lichtner, Peter -- Liewald, David C -- Madden, Pamela A -- Magnusson, Patrik K E -- Makinen, Tomi E -- Masala, Marco -- McGue, Matt -- Metspalu, Andres -- Mielck, Andreas -- Miller, Michael B -- Montgomery, Grant W -- Mukherjee, Sutapa -- Nyholt, Dale R -- Oostra, Ben A -- Palmer, Lyle J -- Palotie, Aarno -- Penninx, Brenda W J H -- Perola, Markus -- Peyser, Patricia A -- Preisig, Martin -- Raikkonen, Katri -- Raitakari, Olli T -- Realo, Anu -- Ring, Susan M -- Ripatti, Samuli -- Rivadeneira, Fernando -- Rudan, Igor -- Rustichini, Aldo -- Salomaa, Veikko -- Sarin, Antti-Pekka -- Schlessinger, David -- Scott, Rodney J -- Snieder, Harold -- St Pourcain, Beate -- Starr, John M -- Sul, Jae Hoon -- Surakka, Ida -- Svento, Rauli -- Teumer, Alexander -- LifeLines Cohort Study -- Tiemeier, Henning -- van Rooij, Frank J A -- Van Wagoner, David R -- Vartiainen, Erkki -- Viikari, Jorma -- Vollenweider, Peter -- Vonk, Judith M -- Waeber, Gerard -- Weir, David R -- Wichmann, H-Erich -- Widen, Elisabeth -- Willemsen, Gonneke -- Wilson, James F -- Wright, Alan F -- Conley, Dalton -- Davey-Smith, George -- Franke, Lude -- Groenen, Patrick J F -- Hofman, Albert -- Johannesson, Magnus -- Kardia, Sharon L R -- Krueger, Robert F -- Laibson, David -- Martin, Nicholas G -- Meyer, Michelle N -- Posthuma, Danielle -- Thurik, A Roy -- Timpson, Nicholas J -- Uitterlinden, Andre G -- van Duijn, Cornelia M -- Visscher, Peter M -- Benjamin, Daniel J -- Cesarini, David -- Koellinger, Philipp D -- AA09367/AA/NIAAA NIH HHS/ -- AA11886/AA/NIAAA NIH HHS/ -- BB/F019394/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- CZB/4/710/Chief Scientist Office/United Kingdom -- DA024417/DA/NIDA NIH HHS/ -- DA029377/DA/NIDA NIH HHS/ -- DA05147/DA/NIDA NIH HHS/ -- DA13240/DA/NIDA NIH HHS/ -- ETM/55/Chief Scientist Office/United Kingdom -- F31 DA029377/DA/NIDA NIH HHS/ -- G0600705/Medical Research Council/United Kingdom -- G0700704/Medical Research Council/United Kingdom -- G9815508/Medical Research Council/United Kingdom -- K05 AA017688/AA/NIAAA NIH HHS/ -- MC_PC_U127561128/Medical Research Council/United Kingdom -- MC_UU_12013/1/Medical Research Council/United Kingdom -- MC_UU_12013/3/Medical Research Council/United Kingdom -- MC_UU_12013/5/Medical Research Council/United Kingdom -- MH016880/MH/NIMH NIH HHS/ -- MH066140/MH/NIMH NIH HHS/ -- MR/K026992/1/Medical Research Council/United Kingdom -- P01 AG005842/AG/NIA NIH HHS/ -- P01 CA089392/CA/NCI NIH HHS/ -- P01 GM099568/GM/NIGMS NIH HHS/ -- P01-AG005842/AG/NIA NIH HHS/ -- P01-AG005842-20S2/AG/NIA NIH HHS/ -- P30 AG012810/AG/NIA NIH HHS/ -- P30-AG012810/AG/NIA NIH HHS/ -- R01 AA009367/AA/NIAAA NIH HHS/ -- R01 AA011886/AA/NIAAA NIH HHS/ -- R01 DA013240/DA/NIDA NIH HHS/ -- R01 HL090620/HL/NHLBI NIH HHS/ -- R01 HL105756/HL/NHLBI NIH HHS/ -- R01 HL111314/HL/NHLBI NIH HHS/ -- R01 MH066140/MH/NIMH NIH HHS/ -- R37 DA005147/DA/NIDA NIH HHS/ -- T32 AG000186/AG/NIA NIH HHS/ -- T32 MH016880/MH/NIMH NIH HHS/ -- T32-AG000186-23/AG/NIA NIH HHS/ -- U01 AG009740/AG/NIA NIH HHS/ -- U01 DA024417/DA/NIDA NIH HHS/ -- Z01 AG001050-01/Intramural NIH HHS/ -- ZIA AG000196-03/Intramural NIH HHS/ -- ZIA AG000196-04/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2013 Jun 21;340(6139):1467-71. doi: 10.1126/science.1235488. Epub 2013 May 30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Applied Economics, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, Netherlands.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23722424" target="_blank"〉PubMed〈/a〉
    Keywords: Cognition ; *Educational Status ; Endophenotypes ; Female ; Genetic Loci ; *Genome-Wide Association Study ; Humans ; Male ; Multifactorial Inheritance ; *Polymorphism, Single Nucleotide
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  7th EFSMA - European Congress of Sports Medicine, 3rd Central European Congress of Physical Medicine and Rehabilitation; 20111026-20111029; Salzburg; DOC11esm172 /20111024/
    Publication Date: 2011-10-24
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
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  • 3
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Food Chemistry 14 (1984), S. 273-286 
    ISSN: 0308-8146
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Process Engineering, Biotechnology, Nutrition Technology
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Food Chemistry 19 (1986), S. 137-147 
    ISSN: 0308-8146
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Process Engineering, Biotechnology, Nutrition Technology
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Key words Glycogen storage disease ; Liver transplantation ; Kidney transplantation ; Tube feeding ; Uncooked cornstarch ; AbbreviationsGSD glycogen storage disease ; LT liver transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation. Early diagnosis and initiation of effective dietary therapy have dramatically improved the outcome of GSD type I by reducing the incidence of liver adenoma and renal insufficiency. Nine type I and 3 type III patients have received liver transplants because of poor metabolic control, multiple liver adenomas, or progressive liver failure. Metabolic abnormalities were corrected in all GSD type I and type III patients, while catch-up growth was reported only in two patients. Whether liver transplantation results in reversal and/or prevention of renal disease remains unclear. Neutropenia persisted in both GSDIb patients post liver transplantation necessitating continuous granulocyte colony stimulating factor treatment. Thirteen GSD type IV patients were liver transplanted because of progressive liver cirrhosis and failure. All but one patient have not had neuromuscular or cardiac complications during follow-up periods for as long as 13 years. Four have died within a week and 5 years after transplantation. Caution should be taken in selecting GSD type IV candidates for liver transplantation because of the variable phenotype, which may include life-limiting extrahepatic manifestations. It remains to be evaluated, whether a genotype-phenotype correlation exists for GSD type IV, which may aid in the decision making. Conclusion Liver transplantation should be considered for patients with glycogen storage disease who have developed liver malignancy or hepatic failure, and for type IV patients with the classical and progressive hepatic form.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    World journal of surgery 15 (1991), S. 724-729 
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Les critères utilisés pour sélectioner les patients ayant une hyperparathyroÏdie (HPT) asymptomatique et susceptibles d'Être opérés, sont sujets à controverse. La question posée est: est-ce que l'HPT des patients asymptomatiques est moins sévère (glandes de plus petite taille et biologie moins perturbée) que l'HPT des patients symptomatiques? Nous avons étudié 111 patients consécutifs avec HPT traités chirurgicalement en comparant les résultats de 83 patients symptomatiques à 28 patients asymtomatiques. Il n'y avait aucune différence significative en ce qui concerne l'âge, la calcémie, le taux sérique de parathormone (PTH) comploids de glandes excisées (adénome). L'hypercalcémie a disparu chez tous les patients. L'histoire naturelle de l'HPT modérée ou asymptomatique est inconnue, mais nous avons essayé de résumer l'état actuel des connaissances sur ce sujet concernant la mortalité, le retentissement cardio-vasculaire, psychiatrique, neuromusculaire et osseux de la maladie. Les symptÔmes de l'HPT ne sont pas en rapport avec le degré des perturbations biologiques et les données anatomo-pathologiques. L'évaluation clinique ne permet pas de prédire la sévèrité de la maladie et ne doit pas Être le seul critère de sélection pour la chirurgie. Les résultats de la chirurgie pour l'HPT primitive nous incitent à préconiser une indication chirurgicale assez large dans la sélection des patients asymptomatiques.
    Abstract: Resumen Los criterios para la selección de pacientes con hiperparatiroidismo primario (HPT) para cirugía son todavía motivo de controversia. ¿Tienen los pacientes con HPT asintomático enfermedad menos severa (glándulas menos grandes y menores alteraciones bioquímicas) que aquellos con síntomas? Estudiamos una serie de 111 pacientes con HPT tratados quirÚrgicamente y comparamos el grupo sintomático (83) con el grupo asintomático (28). No se hallaron diferencias significativas entre los dos grupos en cuanto a edad, calcio sérico, PTH (intacta 1–84) y peso de las glándulas resecadas (adenomas). La hipercalcemia fue curada en todos los pacientes. La historia natural del HPT leve o asintomática permanece desconocida, pero nos hemos propuesto resumir el conocimiento actual en relación con mortalidad, enfermedad cardiovascular/renal, alteraciones psiquiátricas y neuromusculares y enfermedad ósea. Los síntomas de HPT no se correlacionan con el grado de anormalidad bioquímica o patológica. Además, la valoración clínica no permite predecir la gravedad de la enfermedad y no debe constituir el Único factor de selección para cirugía. Los resultados de la cirugía en el HPT primario nos permite preconizar una política liberal en la selección de pacientes asintomáticos para operación.
    Notes: Abstract The criteria used in selecting patients with asymptomatic hyperparathyroidism (HPT) for surgery remain controversial. Do patients with asymptomatic HPT have less severe disease (smaller glands and less derangement of biochemistry) than those with symptoms? We studied a consecutive series of 111 patients with HPT surgically treated and compared the symptomatic patients (n=83) and asymptomatic patients (n=28). There were no significant differences between the two patient groups with respect to age, serum calcium, PTH (intact 1–84), and excised gland weights (adenomas). Hypercalcemia was cured in all patients. The natural history of mild or asymptomatic HPT is unknown, but we summarize the current knowledge relating to mortality, cardiovascular/ renal disease, psychiatric and neuromuscular disorders, and bone disease. Symptoms of HPT do not correlate with the degree of biochemical and pathological derangement. Furthermore clinical assessment does not predict severity of disease and should not be the sole basis of selection for surgery. The results of surgery for primary HPT permit us to advocate a liberal approach to the selection of asymptomatic patients for operation.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Fibroblast growth factors (FGFs) comprise a family of polypeptide growth factors implicated in the control of proliferation of glandular tissues. The aim of this study was to determine whether FGFs are produced in normal and abnormal parathyroid glands and if these tissues have the potential to respond to this growth factor family. We have examined the expression of FGF receptor (FGF-R) types 1 and 2 and of FGFs 1, 2, 3, and 7 in a series of human parathyroid tissues using the reverse transcription polymerase chain reaction (RT-PCR). Samples of 10 parathyroid adenomas and 10 hyperplastic glands from patients with renal hyperparathyroidism (HPT) were compared with samples from normal parathyroid glands from patients with primary HPT in the study. FGF-R1 was expressed in all samples and FGF-R2 in most. FGF1 and FGF2 were expressed in all samples at variable levels, with no correlation between disease type and amplified RT-PCR product levels. FGF7 was expressed in normal parathyroid tissue and in all adenomas but was absent in all but one of the hyperplastic parathyroid glands from renal failure patients. FGF3 was expressed at low levels in normal tissue and variably expressed in diseased tissue, in some instances at high levels. These findings suggest that parathyroid tissue is potentially responsive to FGFs. The absence of FGF7 expression in all but one of the renal parathyroid samples compared with normal and adenomatous tissue requires further investigation. The presence of elevated levels of FGF3 expression in abnormal parathyroid tissue may be significant, as the FGF3 gene ( int -2 proto-oncogene) is located on chromosome 11q13.3, a region already identified as being susceptible to rearrangement/mutation in parathyroid disease.
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 88 (1912), S. 312-312 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] IN the article on “Microkinematography” in NATURE of December 14, 1911, there are one or two points which are expressed in a manner that may lead to misconception. Dealing with these as they occur, is it correct to describe the process as having been developed during the last few months? The ...
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  • 9
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The histopathologic differential diagnosis of subepidermal blisters is broad and most commonly includes primary dermatologic diseases (i.e. bullous pemphigoid), secondary blistering conditions (i.e. bullous lichen planus), and drug reactions (i.e. toxic epidermal necrolysis); however, when examining blister specimens taken during autopsy, several other entities need to be added to the differential diagnosis. For one year, we biopsied cutaneous blisters and erosions found during autopsies performed at the Dallas County Medical Examiner’s Office and examined them histologically. The objective of this study was to determine the primary cause of blisters and erosions seen at autopsy, characterize them histologically in order to allow differentiation from other blistering conditions, and emphasize causes of subepidermal blisters that are often not considered in the differential diagnosis. We present eight representative cases in order to illustrate the following points. The majority of blisters and erosions examined were subepidermal and secondary to physical causes, such as burns, defibrillation, submersion, fetal maceration, and decomposition. Although primary skin conditions need to be considered when examining blisters and erosions at autopsy, the most common entities are secondary to physical causes, and these need to be included in the differential diagnosis in order to obtain an accurate diagnosis.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 85 (1999), S. 4565-4567 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: In this study 2000 Å FeTaN thin films are annealed at 150 °C in both longitudinal and transverse magnetic fields. Both anneals result in a decrease in HK, which is shown to be a result of interstitial N, however, the transverse anneal results in a 90° rotation of HK and a 33% larger decrease in the magnitude of HK as compared to the longitudinal anneal. Subsequent transverse field anneals show that HK is completely reversible in relatively short times at any temperature above 75 °C. Our results are consistent with the diffusion of interstitial N being responsible for the rotatable behavior of HK in FeTaN. © 1999 American Institute of Physics.
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