Search Results - (Author, Cooperation:T. Gasser)

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  1. 1
    Staff View
    Publication Date:
    2018-03-30
    Publisher:
    Institute of Physics (IOP)
    Print ISSN:
    1748-9318
    Electronic ISSN:
    1748-9326
    Topics:
    Biology
    Energy, Environment Protection, Nuclear Power Engineering
    Published by:
    http://www.iop.org/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    Publication Date:
    2016-03-18
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Aerosols/analysis/chemistry ; Air Pollution/*analysis ; Atmosphere/*chemistry ; Carbon Dioxide/analysis ; China ; Fossil Fuels ; *Greenhouse Effect ; Methane/analysis ; Soot/analysis ; Sulfates/analysis ; Sulfur Dioxide/analysis ; Uncertainty
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., Malik, R., Patsopoulos, N. A., Ripke, S., Wei, Z., Yu, D., Lee, P. H., Turley, P., Grenier-Boley, B., Chouraki, V., Kamatani, Y., Berr, C., Letenneur, L., Hannequin, D., Amouyel, P., Boland, A., Deleuze, J.-F., Duron, E., Vardarajan, B. N., Reitz, C., Goate, A. M., Huentelman, M. J., Kamboh, M. I., Larson, E. B., Rogaeva, E., St George-Hyslop, P., Hakonarson, H., Kukull, W. A., Farrer, L. A., Barnes, L. L., Beach, T. G., Demirci, F. Y., Head, E., Hulette, C. M., Jicha, G. A., Kauwe, J. S. K., Kaye, J. A., Leverenz, J. B., Levey, A. I., Lieberman, A. P., Pankratz, V. S., Poon, W. W., Quinn, J. F., Saykin, A. J., Schneider, L. S., Smith, A. G., Sonnen, J. A., Stern, R. A., Van Deerlin, V. M., Van Eldik, L. J., Harold, D., Russo, G., Rubinsztein, D. C., Bayer, A., Tsolaki, M., Proitsi, P., Fox, N. C., Hampel, H., Owen, M. J., Mead, S., Passmore, P., Morgan, K., Nöthen, M. M., Rossor, M., Lupton, M. K., Hoffmann, P., Kornhuber, J., Lawlor, B., McQuillin, A., Al-Chalabi, A., Bis, J. C., Ruiz, A., Boada, M., Seshadri, S., Beiser, A., Rice, K., van der Lee, S. J., De Jager, P. L., Geschwind, D. H., Riemenschneider, M., Riedel-Heller, S., Rotter, J. I., Ransmayr, G., Hyman, B. T., Cruchaga, C., Alegret, M., Winsvold, B., Palta, P., Farh, K.-H., Cuenca-Leon, E., Furlotte, N., Kurth, T., Ligthart, L., Terwindt, G. M., Freilinger, T., Ran, C., Gordon, S. D., Borck, G., Adams, H. H. H., Lehtimäki, T., Wedenoja, J., Buring, J. E., Schürks, M., Hrafnsdottir, M., Hottenga, J.-J., Penninx, B., Artto, V., Kaunisto, M., Vepsäläinen, S., Martin, N. G., Montgomery, G. W., Kurki, M. I., Hämäläinen, E., Huang, H., Huang, J., Sandor, C., Webber, C., Muller-Myhsok, B., Schreiber, S., Salomaa, V., Loehrer, E., Göbel, H., Macaya, A., Pozo-Rosich, P., Hansen, T., Werge, T., Kaprio, J., Metspalu, A., Kubisch, C., Ferrari, M. D., Belin, A. C., van den Maagdenberg, A. M. J. M., Zwart, J.-A., Boomsma, D., Eriksson, N., Olesen, J., Chasman, D. I., Nyholt, D. R., Avbersek, A., Baum, L., Berkovic, S., Bradfield, J., Buono, R., Catarino, C. B., Cossette, P., De Jonghe, P., Depondt, C., Dlugos, D., Ferraro, T. N., French, J., Hjalgrim, H., Jamnadas-Khoda, J., Kälviäinen, R., Kunz, W. S., Lerche, H., Leu, C., Lindhout, D., Lo, W., Lowenstein, D., McCormack, M., Moller, R. S., Molloy, A., Ng, P.-W., Oliver, K., Privitera, M., Radtke, R., Ruppert, A.-K., Sander, T., Schachter, S., Schankin, C., Scheffer, I., Schoch, S., Sisodiya, S. M., Smith, P., Sperling, M., Striano, P., Surges, R., Thomas, G. N., Visscher, F., Whelan, C. D., Zara, F., Heinzen, E. L., Marson, A., Becker, F., Stroink, H., Zimprich, F., Gasser, T., Gibbs, R., Heutink, P., Martinez, M., Morris, H. R., Sharma, M., Ryten, M., Mok, K. Y., Pulit, S., Bevan, S., Holliday, E., Attia, J., Battey, T., Boncoraglio, G., Thijs, V., Chen, W.-M., Mitchell, B., Rothwell, P., Sharma, P., Sudlow, C., Vicente, A., Markus, H., Kourkoulis, C., Pera, J., Raffeld, M., Silliman, S., Boraska Perica, V., Thornton, L. M., Huckins, L. M., William Rayner, N., Lewis, C. M., Gratacos, M., Rybakowski, F., Keski-Rahkonen, A., Raevuori, A., Hudson, J. I., Reichborn-Kjennerud, T., Monteleone, P., Karwautz, A., Mannik, K., Baker, J. H., OToole, J. K., Trace, S. E., Davis, O. S. P., Helder, S. G., Ehrlich, S., Herpertz-Dahlmann, B., Danner, U. N., van Elburg, A. A., Clementi, M., Forzan, M., Docampo, E., Lissowska, J., Hauser, J., Tortorella, A., Maj, M., Gonidakis, F., Tziouvas, K., Papezova, H., Yilmaz, Z., Wagner, G., Cohen-Woods, S., Herms, S., Julia, A., Rabionet, R., Dick, D. M., Ripatti, S., Andreassen, O. A., Espeseth, T., Lundervold, A. J., Steen, V. M., Pinto, D., Scherer, S. W., Aschauer, H., Schosser, A., Alfredsson, L., Padyukov, L., Halmi, K. A., Mitchell, J., Strober, M., Bergen, A. W., Kaye, W., Szatkiewicz, J. P., Cormand, B., Ramos-Quiroga, J. A., Sanchez-Mora, C., Ribases, M., Casas, M., Hervas, A., Arranz, M. J., Haavik, J., Zayats, T., Johansson, S., Williams, N., Dempfle, A., Rothenberger, A., Kuntsi, J., Oades, R. D., Banaschewski, T., Franke, B., Buitelaar, J. K., Arias Vasquez, A., Doyle, A. E., Reif, A., Lesch, K.-P., Freitag, C., Rivero, O., Palmason, H., Romanos, M., Langley, K., Rietschel, M., Witt, S. H., Dalsgaard, S., Borglum, A. D., Waldman, I., Wilmot, B., Molly, N., Bau, C. H. D., Crosbie, J., Schachar, R., Loo, S. K., McGough, J. J., Grevet, E. H., Medland, S. E., Robinson, E., Weiss, L. A., Bacchelli, E., Bailey, A., Bal, V., Battaglia, A., Betancur, C., Bolton, P., Cantor, R., Celestino-Soper, P., Dawson, G., De Rubeis, S., Duque, F., Green, A., Klauck, S. M., Leboyer, M., Levitt, P., Maestrini, E., Mane, S., De-Luca, D. M.-, Parr, J., Regan, R., Reichenberg, A., Sandin, S., Vorstman, J., Wassink, T., Wijsman, E., Cook, E., Santangelo, S., Delorme, R., Roge, B., Magalhaes, T., Arking, D., Schulze, T. G., Thompson, R. C., Strohmaier, J., Matthews, K., Melle, I., Morris, D., Blackwood, D., McIntosh, A., Bergen, S. E., Schalling, M., Jamain, S., Maaser, A., Fischer, S. B., Reinbold, C. S., Fullerton, J. M., Guzman-Parra, J., Mayoral, F., Schofield, P. R., Cichon, S., Mühleisen, T. W., Degenhardt, F., Schumacher, J., Bauer, M., Mitchell, P. B., Gershon, E. S., Rice, J., Potash, J. B., Zandi, P. P., Craddock, N., Ferrier, I. N., Alda, M., Rouleau, G. A., Turecki, G., Ophoff, R., Pato, C., Anjorin, A., Stahl, E., Leber, M., Czerski, P. M., Cruceanu, C., Jones, I. R., Posthuma, D., Andlauer, T. F. M., Forstner, A. J., Streit, F., Baune, B. T., Air, T., Sinnamon, G., Wray, N. R., Mac; Intyre, D. J., Porteous, D., Homuth, G., Rivera, M., Grove, J., Middeldorp, C. M., Hickie, I., Pergadia, M., Mehta, D., Smit, J. H., Jansen, R., de Geus, E., Dunn, E., Li, Q. S., Nauck, M., Schoevers, R. A., Beekman, A. T., Knowles, J. A., Viktorin, A., Arnold, P., Barr, C. L., Bedoya-Berrio, G., Bienvenu, O. J., Brentani, H., Burton, C., Camarena, B., Cappi, C., Cath, D., Cavallini, M., Cusi, D., Darrow, S., Denys, D., Derks, E. M., Dietrich, A., Fernandez, T., Figee, M., Freimer, N., Gerber, G., Grados, M., Greenberg, E., Hanna, G. L., Hartmann, A., Hirschtritt, M. E., Hoekstra, P. J., Huang, A., Huyser, C., Illmann, C., Jenike, M., Kuperman, S., Leventhal, B., Lochner, C., Lyon, G. J., Macciardi, F., Madruga-Garrido, M., Malaty, I. A., Maras, A., McGrath, L., Miguel, E. C., Mir, P., Nestadt, G., Nicolini, H., Okun, M. S., Pakstis, A., Paschou, P., Piacentini, J., Pittenger, C., Plessen, K., Ramensky, V., Ramos, E. M., Reus, V., Richter, M. A., Riddle, M. A., Robertson, M. M., Roessner, V., Rosario, M., Samuels, J. F., Sandor, P., Stein, D. J., Tsetsos, F., Van Nieuwerburgh, F., Weatherall, S., Wendland, J. R., Wolanczyk, T., Worbe, Y., Zai, G., Goes, F. S., McLaughlin, N., Nestadt, P. S., Grabe, H.-J., Depienne, C., Konkashbaev, A., Lanzagorta, N., Valencia-Duarte, A., Bramon, E., Buccola, N., Cahn, W., Cairns, M., Chong, S. A., Cohen, D., Crespo-Facorro, B., Crowley, J., Davidson, M., De; Lisi, L., Dinan, T., Donohoe, G., Drapeau, E., Duan, J., Haan, L., Hougaard, D., Karachanak-Yankova, S., Khrunin, A., Klovins, J., Kucinskas, V., Lee Chee Keong, J., Limborska, S., Loughland, C., Lönnqvist, J., Maher, B., Mattheisen, M., McDonald, C., Murphy, K. C., Nenadic, I., van Os, J., Pantelis, C., Pato, M., Petryshen, T., Quested, D., Roussos, P., Sanders, A. R., Schall, U., Schwab, S. G., Sim, K., So, H.-C., Stögmann, E., Subramaniam, M., Toncheva, D., Waddington, J., Walters, J., Weiser, M., Cheng, W., Cloninger, R., Curtis, D., Gejman, P. V., Henskens, F., Mattingsdal, M., Oh, S.-Y., Scott, R., Webb, B., Breen, G., Churchhouse, C., Bulik, C. M., Daly, M., Dichgans, M., Faraone, S. V., Guerreiro, R., Holmans, P., Kendler, K. S., Koeleman, B., Mathews, C. A., Price, A., Scharf, J., Sklar, P., Williams, J., Wood, N. W., Cotsapas, C., Palotie, A., Smoller, J. W., Sullivan, P., Rosand, J., Corvin, A., Neale, B. M.
    American Association for the Advancement of Science (AAAS)
    Published 2018
    Staff View
    Publication Date:
    2018-06-22
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Geosciences
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Genetics, Medicine, Diseases, Online Only
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Bauer, M. ; Suppmann, S. ; Meyer, M. ; Hesslinger, C. ; Gasser, T. ; Widmer, H. R. ; Ueffing, M.

    Oxford, UK : Blackwell Science Ltd
    Published 2002
    Staff View
    ISSN:
    1471-4159
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Notes:
    Glial cell line-derived neurotrophic factor (GDNF) protects dopaminergic neurones against toxic and physical damage. In addition, GDNF promotes differentiation and structural integrity of dopaminergic neurones. Here we show that GDNF can support the function of primary dopaminergic neurones by triggering activation of GTP-cyclohydrolase I (GTPCH I), a key enzyme in catecholamine biosynthesis. GDNF stimulation of primary dopaminergic neurones expressing both tyrosine 3-monooxygenase and GTPCH I resulted in a dose-dependent doubling of GTPCH I activity, and a concomitant increase in tetrahydrobiopterin levels whereas tyrosine 3-monooxygenase activity was not altered. Actinomycin D, asan inhibitor of de novo biosynthesis, abolished any GDNF-mediated up-regulation of GTPCH I activity. However, GTPCH I mRNA levels in primary dopaminergic neurones were not altered by GDNF treatment, suggesting that the mode of action for that up-regulation is not directly connected to the regulation of GTPCH I transcription. We conclude that GDNF, in addition to its action in structural differentiation, also promotes differentiation regarding expression and enzymatic activity of a crucial component in the dopaminergic biosynthetic pathway.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1046/j.1471-4159.2002.01074.x

    Articles: DFG German National Licenses
  5. 5
    Ochsenbein-Kölble, N. ; Roos, M. ; Gasser, T. ; Huch, R. ; Huch, A. ; Zimmermann, R.

    Oxford, UK and Malden, USA : Blackwell Science Ltd
    Published 2004
    Staff View
    ISSN:
    1471-0528
    Source:
    Blackwell Publishing Journal Backfiles 1879-2005
    Topics:
    Medicine
    Notes:
    Objective  To generate reliable new reference ranges for pregnancy blood pressure from a large population.Design  A prospective cross sectional study.Setting  Obstetric outpatient clinic, Zurich University Hospital.Sample  Accurately dateable singleton pregnancies (Caucasian: n= 3234; Asian [predominantly from Sri Lanka, Thailand and the Philippines]: n= 577; Black n= 212).Methods  Between January 1996 and February 2000 blood pressure was determined in 4023 pregnant women using an oscillometric automated device (Dinamap) according to British Hypertension Society recommendations. Women receiving antihypertensive medication were excluded.Main outcome measure  Blood pressure.Results  Only the means of duplicate measures at the booking visit (5–42 weeks) were used in the analysis. Mean blood pressure decreased from early to mid pregnancy before increasing to levels 4 mmHg higher at term than in early pregnancy. Values 〉130/80 and 〈90/50 mmHg were above the 95th and below the 5th centiles, respectively. Parity, age and body mass index were significant determinants in Caucasians. Blood pressure was slightly lower in Asians and Blacks.Conclusions  The current World Health Organisation definition of high diastolic blood pressure (≥90 mmHg on two occasions) reflects values 〉2 standard deviations from the mean. This may be too conservative as threshold for detecting women at risk of pre-eclampsia. Further studies are required to determine the prognostic implications of gestational values ≥95th centile (≥130/80 mmHg) and ≤5th centile (≤90/50 mmHg).
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1111/j.1471-0528.2004.00099.x

    Articles: DFG German National Licenses
  6. 6
    Verleger, R. ; Gasser, T. ; Mocks, J.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0301-0511
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0301-0511(85)90036-5

    Articles: DFG German National Licenses
  7. 7
    Hardle, W. ; Gasser, T. ; Bacher, P.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0301-0511
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0301-0511(84)90002-4

    Articles: DFG German National Licenses
  8. 8
    Schellberg, D. ; Gasser, T. ; Kohler, W.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0167-8760
    Keywords:
    Evoked potential ; Flash stimulus ; Reliability ; Statistical method
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0167-8760(87)90017-1

    Articles: DFG German National Licenses
  9. 9
    Pfleger, W. ; Schellberg, D. ; Besthorn, C. ; Gasser, T.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0167-8760
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0167-8760(91)90270-8

    Articles: DFG German National Licenses
  10. 10
    Staff View
    ISSN:
    0167-8760
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0167-8760(93)90123-7

    Articles: DFG German National Licenses
  11. 11
    Schellberg, D. ; Besthorn, C. ; Klos, T. ; Gasser, T.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0167-8760
    Keywords:
    Activation pattern ; EEG band power ; EEG coherence ; EOG correction ; Emotional film
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Psychology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0167-8760(90)90060-Q

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    0165-1781
    Keywords:
    Computed tomography ; neuroleptic response ; schizophrenia
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0165-1781(88)90124-2

    Articles: DFG German National Licenses
  13. 13
    Klopstock, T. ; Gasser, T.
    Springer
    Published 1999
    Staff View
    ISSN:
    1433-0407
    Keywords:
    Schlüsselwörter Mitochondriale Erkrankungen ; Mitochondriale DNA ; Genetische Beratung ; Pränatale Diagnostik ; Key words Mitochondrial diseases ; Mitochondrial DNA ; Genetic counselling ; Prenatal diagnosis
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Description / Table of Contents:
    Summary Since mitochondrial diseases lead frequently to severe phenotypes and are often hereditary, there is a need for genetic counselling of the affected families. The specific features of mitochondrial genetics, however, hamper straightforward definition of recurrence risks as in Mendelian diseases. Empirical risks were recently provided for MELAS and MERRF syndromes and for Leber hereditary optic neuropathy. In MELAS and MERFF, higher levels of mutant mtDNA in the mothers’ blood were associated with an increased frequency of affected offspring. Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome are in general sporadic disorders without increased recurrence risks in the offspring. As Leigh syndrome is found with maternal, autosomal recessive or X chromosomal transmission, the definition of the molecular defect is crucial for genetic counselling. Prenatal diagnosis was reported only in one case of mitochondrial disease so far, and in our opinion it remains questionable because of the uncertain correlation of the proportion of mutant DNA in chorionic villi and in clinically relevant tissues such as brain.
    Notes:
    Zusammenfassung Mitochondriale Erkrankungen sind häufig sehr schwere, meist hereditäre Krankheitsbilder, so daß eine genetische Beratung der betroffenen Familien wünschenswert ist. Auf Grund der Besonderheiten der mitochondrialen Genetik läßt sich das Wiederholungsrisiko jedoch nicht wie bei den nach Mendelschen Regeln vererbten Erkrankungen mathematisch ableiten. Empirisch lassen sich inzwischen aber Wiederholungsrisiken für MELAS, MERRF und die Lebersche Optikusneuropathie angeben. Dabei zeigt sich bei MELAS und MERRF, daß der Anteil betroffener Kinder vom Anteil mutanter DNA bei der Mutter abhängt. Die chronisch progressive externe Ophthalmoplegie und das Kearns-Sayre-Syndrom treten i.allg. sporadisch auf, so daß kein erhöhtes Risiko für die Nachkommen besteht. Beim Leigh-Syndrom gibt es maternale, autosomal rezessive und X-chromosomale Erbgänge, so daß die Definition des molekularen Defekts entscheidend für die genetische Beratung ist. Eine pränatale Diagnostik wurde bisher nur in einem Fall einer mitochondrialen Erkrankung beschrieben, und ist unseres Erachtens wegen der unsicheren Korrelation des Mutationsanteils in Chorionzotten und dem in Hirn und anderen klinisch relevanten Geweben äußerst problematisch.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s001150050472

    Articles: DFG German National Licenses
  14. 14
    Jäger, M. ; von Rosen, F. ; Fesl, G. ; Gasser, T.
    Springer
    Published 2000
    Staff View
    ISSN:
    1433-0407
    Keywords:
    Schlüsselwörter SCA7 ; CAG-Repeat ; Ataxie ; Makuladegeneration ; Keywords SCA7 ; Anticipation ; CAG repeat ; Ataxia ; Macular degeneration
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Description / Table of Contents:
    Abstract Spinocerebellar ataxia type 7 (SCA7) belongs to the category of autosomal dominant cerebellar ataxias (ADCA). The clinical picture is characterised by progressive ataxia and macular degeneration. Other common signs are slow saccades, external ophthalmoplegia, and pyramidal tract signs. The disease is caused by the expansion of an unstable CAG trinucleotide repeat in the gene for ataxin 7 on chromosome 3. SCA7 is a rare disorder. The first case in Germany was described only recently. We report two additional patients, father and son, with the molecular genetic diagnosis of SCA7. The father carries a trinucleotide expansion of 42 CAG repeats, the son 51. Normal alleles range from 7 to 35 CAG repeats. Both patients show the typical picture with progressive ataxia and macular degeneration. We found a pronounced anticipation (earlier disease onset in subsequent generations), which is highly characteristic of CAG repeat disorders.
    Notes:
    Zusammenfassung Die spinozerebelläre Ataxie Typ 7 (SCA7) gehört zu den autosomal-dominanten zerebellären Ataxien (ADCA). Klinisch zeichnet sich die SCA7 durch eine Kombination von progressiver Ataxie und Makuladegeneration aus, darüber hinaus können weitere Symptome wie z. B. Okulomotorikstörungen und Pyramidenbahnzeichen auftreten. Molekulargenetisch liegt der Erkrankung eine CAG-Repeat-Verlängerung im Gen für Ataxin 7 auf Chromosom 3 zugrunde. Die SCA7 ist eine seltene Erkrankung, erst kürzlich wurde der erste Fall in Deutschland beschrieben. Wir berichten über 2 weitere Patienten, Vater und Sohn, mit molekulargenetisch gesicherter SCA7. Es fand sich eine Verlängerung der betreffenden CAG-ä liegt zwischen 7 und 35 CAG-Repeateinheiten. Beide Patienten zeigen das charakteristische klinische Bild mit zerebellärer Ataxie und Makuladegeneration. Darüber hinaus besteht eine ausgeprägte Antizipation (früheres Erkrankungsalter in den Folgegenerationen), was für die sog. CAG-Repeat-Erkrankungen typisch ist.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s001150050672

    Articles: DFG German National Licenses
  15. 15
    Lehmann, K. ; Casella, R. ; Eichlisberger, R. ; Gasser, T. C.
    Springer
    Published 1999
    Staff View
    ISSN:
    1433-0563
    Keywords:
    Key words Erectile dysfunction • Medical history • Aetiology ; Schlüsselwörter Erektile Dysfunktion • Anamnese •Ätiologie
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Description / Table of Contents:
    Zusammenfassung Ätiologie und Ausmaß einer erektilen Dysfunktion (ED) bleiben auch mit invasiven Abklärungen oft unklar. Unabhängig von der Ätiologie sind die intrakavernöse Injektion vasoaktiver Substanzen und Vakuumpumpen sehr effiziente Behandlungsmethoden. Diese beiden Tatsachen und der Kostendruck begünstigen eine therapieorientierte Abklärung ohne ätiologische Diagnose. Es stellt sich die Frage, ob in einer quantifizierenden Anamnese trotzdem eine ätiologische Diagnose der ED möglich ist. Bei 74 nicht behandelten Patienten mit ED im Alter zwischen 25–75 Jahren wurden sexuell stimulierte Erektionen anamnestisch quantifiziert und mit duplexsonographisch und klinisch erhobenen Daten pharmakostimulierter Erektionen verglichen. Die Patienten beschrieben eine erhebliche Verschlechterung der Penetrationsfähigkeit, der Erektionsdauer und der Rigidität (p 〈 0,0001). Die duplexsonographisch gemessenen Parameter sowie die klinisch beurteilte Reaktion, korrelierten mit pharmakostimulierten Erektionen (r = 0,72). Der Vergleich dieser gemessenen Daten mit anamestisch quantifizierten, zeigte keine nachweisbare Relation (r = 0,05). Wurde aber die erektionsbedingte Volumenzunahme mit anamestisch quantifizierten (r = 0,26–0,34; p 〈 0,03) Daten und pharmakostimuliert (r = 0,44–0,55; p 〈 0,0001) gemessene Parameter verglichen, zeigten sich signifikante Korrelationen. Sexuell- und/oder pharmakostimulierte Erektionen sind proportional zur Volumenzunahme des Penis. Trotz nachweisbarer Beziehung zwischen sexuell- und pharmakostimulierten Erektionen reichen die quantitativen Angaben über sexuell stimulierte Erektionen nicht aus, um eine Ätiologie zu diagnostizieren und aufwendigere Abklärungen einzusparen.
    Notes:
    Summary Even complex diagnostic tests may not establish aetiology and degree of erectile dysfunction (ED) in many patients. Therefore, we evaluated a self-report method with a restrictive focus to quality of erections which may yield information sufficient to make an aetiologic diagnosis. We studied 74 patients 25 to 75 years of age with untreated ED. Sexually stimulated erections were quantified and compared to duplexsonographically and clinically evaluated data from pharmacostimulated erections. Patients reported that there was a marked decrease in ability to penetrate the partner, to sustain an erection and of penile rigidity (p 〈 0.001). Parameters from duplexsonography and clinically assessed response to pharmacostimulation correlated (r = 0.72). Direct comparison of these data with quantified history showed no relation (r = 0.05). Using change in penile volume due to erection as a basis to compare with, showed significant correlation with quantified data from history (r = 0.26–0.34; p 〈 0.03) and measured parameters from pharmacostimulated erections (r = 0.44–0.55; p 〈 0.0001). Sexually- and pharmacostimulated erections are proportional to change in penile volume. Although there is a relation between erections emerging from both stimulations, quantifying history on sexually stimulated erections does not qualify to make an aetiologic diagnosis without using complex tests.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s001200050261

    Articles: DFG German National Licenses
  16. 16
    Staff View
    ISSN:
    1434-0879
    Keywords:
    Renal cell carcinoma ; Prognosis ; p53 ; mdm-2 ; Survival ; Proliferation
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract The clinical course of renal cell carcinoma (RCC) is highly variable. Overexpression of the p53 protein has been suggested as a possible prognostic parameter in RCC. Overexpression of the mdm-2 oncogene product has been shown to interact with the p53 function. To investigate the immunohistochemical overexpression of mdm-2 protein in comparison with that of p53 protein in RCC, 50 nonpapillary pT3 RCCs were immunostained for p53 protein (DO-7) and mdm-2 (1172). Tumor growth fraction (Ki-67 labeling index; MIB-1) was determined by immunohistochemistry. p53 positivity was detected in 16% of tumors. mdm-2 overexpression was seen in 30% of RCCs. There was a significant association between p53 and mdm-2 immunostaining (P=0.0006), suggesting that mdm-2 protein may contribute to p53 protein stabilization in RCC. p53 overexpression was associated with a high Ki-67 LI (P=0.0002), suggesting that p53 overexpression is involved in growth control in RCC. Survival analysis showed that Ki-67 LI (P=0.04) and p53 overexpression were associated with poor prognosis (P=0.0021), whereas mdm-2 overexpression was not related to patient outcome (P=0.73). A Cox regression analysis revealed tumor stage (P〈0.001) and p53 overexpression (P〈0.05) to be independent prognostic parameters. It is concluded that p53 but not mdm-2 may be of practical relevance in predicting patient prognosis in RCC.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00942044

    Articles: DFG German National Licenses
  17. 17
    Staff View
    ISSN:
    1434-0879
    Keywords:
    Bladder neoplasms ; Flow cytometry ; Fluorescence in situ hybridization ; Chromosome Y ; Chromosome X ; Chromosome 1 ; Chromosome 7 ; Chromosome 9 ; Chromosome 17 ; Aneuploidy
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Detection of molecular alterations is of potential significance for diagnosis and prognosis in bladder cancer. Fluorescence in situ hybridization (FISH) allows visualization and quantitation of genes and chromosomes on a cell by cell level and can easily be applied to urinary cells. To evaluate the sensitivity of FISH for detection of DNA aberrations in bladder cancer, formalin-fixed tissues of 293 tumors were examined by FISH and flow cytometry (FCM). Centromere probes for the chromosomes X, Y, 1, 7, 9, and 17 were used for FISH analysis. FISH was more sensitive for detection of quantitative DNA aberrations than FCM. An aberration of at least one chromosome was found in 107 of 108 tumors (99%), which were tetraploid, aneuploid, or multiploid, and in 29 of 49 tumors (59%), which were diploid, by FCM. The frequency of FISH aberrations showed greater differences between pTa (47%) and pT1 tumors (85%;P〈0.0001) than between stages pT1 and pT2-4 (98%). The marked genetic difference between pTa and pT1 tumors argues against the concept of grouping pTa and pT1 tumors together as “superficial bladder cancer.” The frequency of tumors with chromosomal aberrations detected by FISH increased with the number of chromosomes examined. Aneusomy was seen in 68% of grade 1 tumors examined for ≥4 chromosomes, suggesting that the cytological diagnosis of bladder cancer recurrences could be substantially improved by FISH.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00942046

    Articles: DFG German National Licenses
  18. 18
    Gasser, T.
    Springer
    Published 2000
    Staff View
    ISSN:
    1432-055X
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Das idiopathische Parkinson-Syndrom (IPS, Morbus Parkinson) ist eine chronische progrediente Erkrankung, die durch die Symptomkonstellation von Akinese, Rigor, (Ruhe-) Tremor und die Störung der Gleichgewichtsreflexe gekennzeichnet ist. Pathologisch liegt dem IPS eine fortschreitende Degeneration vorwiegend der dopaminergen Neurone der Pars compacta der Substantia nigra zugrunde, die wiederum ein Dopamindefizit im Projektionsgebiet dieser Zellen, dem Striatum, zur Folge hat. Das striatale Dopamindefizit ist die direkte Ursache der meisten motorischen Symptome der Parkinson-Erkrankung. Allerdings spielen bei manchen Krankheitserscheinungen, wie beispielsweise bei plötzlich auftretenden Bewegungsblockaden (“Freezing”) oder häufig beobachteten affektiven Symptomen (Depression), wahrscheinlich auch Störungen anderer Neurotransmitter (Noradrenalin, Serotonin) eine Rolle. Die Ätiologie der Erkrankung ist unbekannt. Ähnlich wie bei der Alzheimer-Demenz stützt jedoch die Identifizierung seltener monogener, autosomal dominant oder rezessiv erblicher Formen die Hypothese, daß genetische Faktoren bei der Krankheitsentstehung eine wichtige Rolle spielen, obwohl bei der großen Mehrzahl der Patienten keine weiteren Familienangeörigen betroffen sind.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s001010050008

    Articles: DFG German National Licenses
  19. 19
    Staff View
    ISSN:
    1432-0533
    Keywords:
    Key words Friedreich’s ataxia ; Trinucleotide repeat ; expansion ; Frataxin gene ; Intrafamilial variability ; Genetic counseling
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Friedreich’s ataxia (FA) is most frequently caused by intronic trinucleotide repeat expansions in the frataxin gene on chromosome 9. The broad clinical spectrum includes late-onset FA (LOFA) and FA with retained reflexes (FARR). The size of the GAA expansions accounts for most, but not all, of the clinical variability. We report the unusual occurrence of LOFA and FARR in two siblings of patients with classical early-onset FA in two families. In spite of the markedly different course of the disease, the respective siblings harboured GAA repeat expansions of similar size in leucocytes. Since haplotype-related variability is not likely among siblings, we suppose that this intrafamilial phenotype variability is due to somatic mosaicism, with the more severely affected siblings harbouring the larger expansions in spinal cord and other affected tissues. In view of these results, genetic counseling and predictions on the course of FA are particularly difficult, even if an expansion mutation is found.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004010050966

    Articles: DFG German National Licenses
  20. 20
    Gasser, T.
    Springer
    Published 1999
    Staff View
    ISSN:
    1432-1289
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Das idiopathische Parkinson-Syndrom (IPS, Morbus Parkinson) ist eine chronisch progrediente Erkrankung, die durch die Symptomkonstellation von Akinese, Rigor, (Ruhe-) Tremor und die Störung der Gleichgewichtsreflexe gekennzeichnet ist. Pathologisch liegt dem IPS eine fortschreitende Degeneration vorwiegend der dopaminergen Neurone der Pars compacta der Substantia nigra zugrunde, die wiederum ein Dopamindefizit im Projektionsgebiet dieser Zellen, dem Striatum, zur Folge hat. Das striatale Dopamindefizit ist die direkte Ursache der meisten motorischen Symptome der Parkinson-Erkrankung. Allerdings spielen bei manchen Krankheitserscheinungen, wie beispielsweise bei plötzlich auftretenden Bewegungsblockaden („Freezing”) oder häufig beobachteten affektiven Symptomen (Depression), wahrscheinlich auch Störungen anderer Neurotransmitter (Noradrenalin, Serotonin) eine Rolle. Die Ätiologie der Erkrankung ist unbekannt. Ähnlich wie bei der Alzheimer-Demenz stützt jedoch die Identifizierung seltener monogener, autosomal dominant oder rezessiv erblicher Formen die Hypothese, daß genetische Faktoren bei der Krankheitsentstehung eine wichtige Rolle spielen, obwohl bei der großen Mehrzahl der Patienten keine weiteren Familienangehörigen betroffen sind.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s001080050460

    Articles: DFG German National Licenses