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2. COVID-19@Home: Etablierung eines patientenzentrierten, nicht-supervidierten Homemonitoringkonzepts für ambulante COVID-19 Patienten über die Notaufnahme eines Supramaximalversorgers im Rahmen einer Pilotstudie

Author

Niekrenz, L, additional, Hübel, C, additional, Plata, C, additional, Biermann, H, additional, Schütze, L, additional, Holtz, S, additional, Deutsch, K, additional, Dauletbayev, N, additional, Koczulla, R, additional, Kuhn, S, additional, Müller, B, additional, Cornelissen, C, additional, Brokmann, J, additional, and Dreher, M, additional

Published
2023
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4. Adaptive Force Control in Grasping as a Function of Level of Developmental Disability

Author

Sprague, R. L., Deutsch, K. M., and Newell, K. M.

Abstract

Background: The adaptation to the task demands of grasping (grip mode and object mass) was investigated as a function of level of developmental disability. Methods: Subjects grasped objects of different grip widths and masses that were instrumented to record grip forces. Results: Proportionally, fewer participants from the profound compared with moderate and severe disability groups were able to complete the prehensile tasks. Nevertheless, all participants who completed the task showed adaptive grasping behaviour in terms of level and variability of force produced. There was higher absolute and relative force variability in low mass tasks that was enhanced with greater level of developmental disability. Conclusions: The findings show task relevant adaptive grasping control with inhibition of force output at very-low-force conditions being the primary performance deficit of the profound disability group as a function of level of developmental disability.

Published
2009
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6. Telemonitoring bei Covid-19-Erkrankten: die hausärztliche Perspektive

Author

Chabiera, PJ, Holtz, S, Köhler, S, Deutsch, K, Oftring, ZS, Vogelmeier, C, Dauletbayev, N, Glöckl, R, Koczulla, R, Niekrenz, L, Dreher, M, Euler, TJ, Rohde, G, Bellinghausen, C, Kuhn, S, Müller, BS, Chabiera, PJ, Holtz, S, Köhler, S, Deutsch, K, Oftring, ZS, Vogelmeier, C, Dauletbayev, N, Glöckl, R, Koczulla, R, Niekrenz, L, Dreher, M, Euler, TJ, Rohde, G, Bellinghausen, C, Kuhn, S, and Müller, BS

Published
2022

7. Implementierung des mHealth Telemonitorings des kardiopulmonalen Systems bei BewohnerInnen von Alters- und Pflegeeinrichtungen: ein Studienprotokoll

Author

Michaelis-Braun, L, additional, Korel, J, additional, Hong, Q N, additional, Jerrentrup, A, additional, Balser, D, additional, Friedrich, J, additional, Müller, B, additional, Kuhn, S, additional, Deutsch, K, additional, Dreher, M, additional, Rohde, G, additional, Vogelmeier, C F, additional, and Dauletbayev, N, additional

Published
2022
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8. mHealth Telemonitoring of Long COVID-19: A Mixed Methods Study on Challenges, Technology Acceptance and Perceived Added value

Author

Korel, J., primary, Michaelis-Braun, L., additional, Hong, Q.N.N., additional, Bönsch, M., additional, Gloeckl, R., additional, Koczulla, A.R.R., additional, Balser, D., additional, Friedrich, J., additional, Müller, B.S., additional, Kuhn, S., additional, Deutsch, K., additional, Dreher, M., additional, Rohde, G., additional, Vogelmeier, C.F., additional, and Dauletbaev, N., additional

Published
2022
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9. Eine Mixed Methods Studie zu Akzeptanz und Mehrwert des mHealth Telemonitorings in Long COVID

Author

Korel, J, additional, Michaelis-Braun, L, additional, Hong, Q N, additional, Bönsch, M, additional, Glöckl, R, additional, Koczulla, A R, additional, Balser, D, additional, Friedrich, J, additional, Müller, B, additional, Kuhn, S, additional, Deutsch, K, additional, Dreher, M, additional, Rohde, G, additional, Vogelmeier, C F, additional, and Dauletbayev, N, additional

Published
2022
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10. Telemonitoring for patients with COVID-19 in outpatient care: first results of the study 'COVID-19@Home'

Author

Müller, B, Holtz, S, Köhler, S, Kuhn, S, Deutsch, K, Vogelmeier, C, Dauletbayev, N, Niekrenz, L, Dreher, M, Euler, T, Bellinghausen, C, and Rohde, G

Subjects
ddc: 610, Medicine and health
Abstract

Background and status of (inter)national research: The role of telemedicine in outpatient care has increased during the COVID-19 pandemic. Studies about positive or negative effects of telemedicine on patients with COVID-19 are still scarce. Additionally, there is a lack of knowledge about the course [for full text, please go to the a.m. URL]

Published
2021
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14. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Author

Majmundar, AJ, Buerger, F, Forbes, TA, Klambt, V, Schneider, R, Deutsch, K, Kitzler, TM, Howden, SE, Scurr, M, Tan, KS, Krzeminski, M, Widmeier, E, Braun, DA, Lai, E, Ullah, I, Amar, A, Kolb, A, Eddy, K, Chen, CH, Salmanullah, D, Dai, R, Nakayama, M, Ottlewski, I, Kolvenbach, CM, Onuchic-Whitford, AC, Mao, Y, Mann, N, Nabhan, MM, Rosen, S, Forman-Kay, JD, Soliman, NA, Heilos, A, Kain, R, Aufricht, C, Mane, S, Lifton, RP, Shril, S, Little, MH, Hildebrandt, F, Majmundar, AJ, Buerger, F, Forbes, TA, Klambt, V, Schneider, R, Deutsch, K, Kitzler, TM, Howden, SE, Scurr, M, Tan, KS, Krzeminski, M, Widmeier, E, Braun, DA, Lai, E, Ullah, I, Amar, A, Kolb, A, Eddy, K, Chen, CH, Salmanullah, D, Dai, R, Nakayama, M, Ottlewski, I, Kolvenbach, CM, Onuchic-Whitford, AC, Mao, Y, Mann, N, Nabhan, MM, Rosen, S, Forman-Kay, JD, Soliman, NA, Heilos, A, Kain, R, Aufricht, C, Mane, S, Lifton, RP, Shril, S, Little, MH, and Hildebrandt, F

Abstract

Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive NOS1AP variants in two families with early-onset NS by exome sequencing. Overexpression of wild-type (WT) NOS1AP, but not cDNA constructs bearing patient variants, increased active CDC42 and promoted filopodia and podosome formation. Pharmacologic inhibition of CDC42 or its effectors, formin proteins, reduced NOS1AP-induced filopodia formation. NOS1AP knockdown reduced podocyte migration rate (PMR), which was rescued by overexpression of WT Nos1ap but not by constructs bearing patient variants. PMR in NOS1AP knockdown podocytes was also rescued by constitutively active CDC42Q61L or the formin DIAPH3 Modeling a NOS1AP patient variant in knock-in human kidney organoids revealed malformed glomeruli with increased apoptosis. Nos1apEx3-/Ex3- mice recapitulated the human phenotype, exhibiting proteinuria, foot process effacement, and glomerulosclerosis. These findings demonstrate that recessive NOS1AP variants impair CDC42/DIAPH-dependent actin remodeling, cause aberrant organoid glomerulogenesis, and lead to a glomerulopathy in humans and mice.

Published
2021

17. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Author

Connaughton, D.M., Dai, R., Owen, D.J., Marquez, J., Mann, N., Graham-Paquin, A.L., Nakayama, M., Coyaud, E., Laurent, E.M.N., St-Germain, J.R., Snijders-Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.H.W., Kolvenbach, C.M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T.M., Majmundar, A.J., Buerger, F., Onuchic-Whitford, A.C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Ven, A.T. van der, Rao, J., Ityel, H., Seltzsam, S., Rieke, J.M., Chen, J., Vivante, A., Hwang, D.Y., Kohl, S., Dworschak, G.C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S.T., Baum, M.A., Brilstra, E.H., Challman, T.D., Zyskind, J., Costin, C.E., Dipple, K.M., Duijkers, F.A., Ferguson, M., Fitzpatrick, D.R., Fick, R., Glass, I.A., Hulick, P.J., Kline, A.D., Krey, I., Kumar, S., Lu, W., Marco, E.J., Wentzensen, I.M., Fisher, S.E., Bouchard, M., Khokha, M.K., Shril, S., Hildebrandt, F., Connaughton, D.M., Dai, R., Owen, D.J., Marquez, J., Mann, N., Graham-Paquin, A.L., Nakayama, M., Coyaud, E., Laurent, E.M.N., St-Germain, J.R., Snijders-Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.H.W., Kolvenbach, C.M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T.M., Majmundar, A.J., Buerger, F., Onuchic-Whitford, A.C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Ven, A.T. van der, Rao, J., Ityel, H., Seltzsam, S., Rieke, J.M., Chen, J., Vivante, A., Hwang, D.Y., Kohl, S., Dworschak, G.C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S.T., Baum, M.A., Brilstra, E.H., Challman, T.D., Zyskind, J., Costin, C.E., Dipple, K.M., Duijkers, F.A., Ferguson, M., Fitzpatrick, D.R., Fick, R., Glass, I.A., Hulick, P.J., Kline, A.D., Krey, I., Kumar, S., Lu, W., Marco, E.J., Wentzensen, I.M., Fisher, S.E., Bouchard, M., Khokha, M.K., Shril, S., and Hildebrandt, F.

Abstract

Contains fulltext : 229002.pdf (publisher's version ) (Closed access)

Published
2020

18. macrozoöbenthos in de Rijn in 2018

Author

Banning, M., Demortier, G., Deutsch, K., Ehlscheid, T., Fischer, H., Lacombe, J., Postema, J., Schindler, Y., Poinsot, L., Schulte-Kellinghaus, N., Banning, M., Demortier, G., Deutsch, K., Ehlscheid, T., Fischer, H., Lacombe, J., Postema, J., Schindler, Y., Poinsot, L., and Schulte-Kellinghaus, N.

Abstract

In 2018 (met bemonsteringen tussen 2015 en 2018) is er in het kader van het ICBRRijnmeetprogramma biologie over de volledige lengte van de Rijn volgens vergelijkbare criteria onderzoek verricht naar de biologische kwaliteitselementen. Het doel van het “Rijnmeetprogramma biologie” is niet alleen het opmaken van een inventaris, maar ook het op hoofdlijnen weergeven van de (veranderingen in de) levensgemeenschappen op de trajecten van de hoofdstroom van de Rijn. In het onderhavige rapport ligt de nadruk op het belangrijke biologische kwaliteitselement macrozoöbenthos (ongewervelde bodemfauna).

Published
2020

27. Medizin im digitalen Zeitalter

Author

Kuhn, S, Hollinderbäumer, A, Michel, S, Kirchgässner, E, and Deutsch, K

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Zielsetzung: Die zunehmende Digitalisierung unserer Lebens- und Arbeitswelt verändert auch den Beruf des Arztes. Die Art und Weise, wie Ärzte sich informieren, kommunizieren und zusammenarbeiten, hat sich durch die Digitalisierung grundlegend verändert. Diese modernen Kommunikations- [zum vollständigen Text gelangen Sie über die oben angegebene URL], Gemeinsame Jahrestagung der Gesellschaft für Medizinische Ausbildung (GMA) und des Arbeitskreises zur Weiterentwicklung der Lehre in der Zahnmedizin (AKWLZ)

Published
2017
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28. PJ-Trauma-Team – Strukturierte qualitative Evaluation eines interdisziplinären Blended Learning Curriculums für Studierende des PJs

Author

Kuhn, S and Deutsch, K

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Fragestellung: PJ-Trauma-Team ist ein interdisziplinärer Blended Learning Kurs, der seit Oktober 2015 angeboten wird. Gruppen mit 7-8 PJ-Studierenden nehmen am 4wöchigen Kurs teil. Die Fragestellung der Arbeit ist, wie Medizinstudierende dieses Lehr-Konzept beurteilen und ob Blended Learning[zum vollständigen Text gelangen Sie über die oben angegebene URL], Gemeinsame Jahrestagung der Gesellschaft für Medizinische Ausbildung (GMA) und des Arbeitskreises zur Weiterentwicklung der Lehre in der Zahnmedizin (AKWLZ)

Published
2017
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31. An Electron Microscopical Study of the Cerebral Cortex of the Calf II. The Calf with Amprolium-Induced Cerebrocortical Necrosis

Author

Deutsch K

Subjects
Male, Cytoplasm, Pathology, medicine.medical_specialty, Necrosis, Antiprotozoal Agents, Amprolium, Cattle Diseases, chemistry.chemical_compound, medicine, Animals, Thiamine, Cell Nucleus, Cerebral Cortex, Inclusion Bodies, Neurons, Brain Diseases, Chemistry, Cell Membrane, Anatomy, Axons, medicine.anatomical_structure, Cerebral cortex, Picolines, Neuroglia, Cattle, medicine.symptom, Ribosomes
Published
2010
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34. COMMON IMPLEMENTATION STRATEGY FOR THE WATER FRAMEWORK DIRECTIVE (2000/60/EC). Guidance Document No. 32 ON BIOTA MONITORING (THE IMPLEMENTATION OF EQSBIOTA) UNDER THE WATER FRAMEWORK DIRECTIVE

Author

Deutsch, K., Leroy, D., Belpaire, C., Den Haan, K., Vrana, B., Clayton, H., Hanke, G., Ricci, M., Held, A., Gawlik, B., Babut, M., Perceval, O., Lepom, P., Heiss, C., Koschorreck, J., O’Toole, S., Valsecchi, S., Polesello, S., Carere, M., TEN HULSCHER, D., Verbruggen, E., Dulio, V., Green, N.W., Viñas, L. (Lucía), Bellas-Bereijo, J.D. (Juan Domingo), Lilja, K., Bignert, A., Whitehouse, P., Summer, K., Law, R.J., Brant, J., Leverett, D., and Merrington, G.

Subjects
Monitoring, Centro Oceanográfico de Vigo, Medio Marino, Directiva Marco del Agua, Biota
Abstract

This Technical Guidance Document on Biota Monitoring (the Implementation of EQSbiota) aims to facilitate the implementation of environmental quality standards (EQS) in biota under the Water Framework Directive by addressing in particular the sampling strategies appropriate for monitoring programmes designed to assess compliance with biota EQS. It is Guidance Document No. 32 in the series of guidance documents prepared to support the Common Implementation Strategy (CIS) for the Water Framework Directive. It elaborates extensively on the content of Guidance Document No. 25 on Chemical Monitoring in Sediment and Biota under the Water Framework Directive, and is complemented by Guidance Document No. 33, the Technical Guidance Document on Analytical Methods for Biota Monitoring. Guidance Documents 32 and 33 together address the requirement for guidance on biota monitoring mentioned in Article 3(8a) of Directive 2008/105/EC as amended by Directive 2013/39/EU. The original Directive 2008/105/EC included biota standards for mercury, hexachlorobenzene and hexachlorobutadiene. In Directive 2013/39/EU, biota EQS were introduced for three other existing priority substances (fluoranthene, polyaromatic hydrocarbons and brominated diphenylethers), and set for four new priority substances (dicofol, perfluorooctane sulfonic acid and its derivatives, hexabromocyclododecane, and heptachlor/heptachlor epoxide). This guidance document takes into account the fact that trend monitoring in sediment and/or biota is required for several other priority substances as specified in Article 3(6), and indicates how trend monitoring data can be used to check compliance with biota EQS, but does not elaborate on trend monitoring as such. This document constitutes guidance and Member States are therefore not legally required to follow the recommendations contained in it. Member States are, however, required to use methods compliant with the requirements of the Environmental Quality Standards Directive 2008/105/EC and the Quality Assurance/Quality Control Directive 2009/90/EC.

Published
2014

36. Abstract P2-02-21: Longitudinal analysis of circulating tumor cells and cell free tumor DNA by next generation sequencing in triple negative breast cancer

Author

Howard, K, primary, Austin, S, additional, Ramirez, AB, additional, Ritter, L, additional, Boles, D, additional, Pruitt, J, additional, Collins, H, additional, Mahen, E, additional, Leonti, A, additional, Maassel, L, additional, Subia, C, additional, Tuuli, S, additional, Heying, N, additional, Deutsch, K, additional, Cox, J, additional, Lo, FY, additional, Stilwell, JL, additional, Kaldjian, EP, additional, Dorschner, M, additional, Blau, S, additional, Blau, A, additional, Eisenberg, M, additional, Anderson, S, additional, and Madan, A, additional

Published
2016
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37. Large volume sampling and effect-based screening

Author

Liška, I., Wagner, F., Sengl, M., Deutsch, K., Slobodník, J., Schulze, Tobias, Krauss, Martin, Novak, J., Hilscherova, K., Ait-Aissa, S., Creusot, N., Macova, M., Neale, P., Escher, Beate, Gomes, T., Tollefsen, K.E., Tarcai, Z., Shao, Y., Deutschmann, B., Seiler, T.-B., Hollert, H., Tarabek, P., Tousova, Z., Slobodnik, J., Walz, K.-H., Brack, Werner, Liška, I., Wagner, F., Sengl, M., Deutsch, K., Slobodník, J., Schulze, Tobias, Krauss, Martin, Novak, J., Hilscherova, K., Ait-Aissa, S., Creusot, N., Macova, M., Neale, P., Escher, Beate, Gomes, T., Tollefsen, K.E., Tarcai, Z., Shao, Y., Deutschmann, B., Seiler, T.-B., Hollert, H., Tarabek, P., Tousova, Z., Slobodnik, J., Walz, K.-H., and Brack, Werner

Published
2015

38. Chemical and immunochemical analysis of anthropogenic markers and contaminants

Author

Liška, I., Wagner, F., Sengl, M., Deutsch, K., Slobodník, J., Bahlmann, A., Lochen, T., Schulze, Tobias, Kirschner, A., Brack, Werner, Schneider, R.J., Krauss, Martin, Liška, I., Wagner, F., Sengl, M., Deutsch, K., Slobodník, J., Bahlmann, A., Lochen, T., Schulze, Tobias, Kirschner, A., Brack, Werner, Schneider, R.J., and Krauss, Martin

Published
2015

39. Microbial faecal source tracking

Author

Liška, I., Wagner, F., Sengl, M., Deutsch, K., Slobodník, J., Reischer, G.H., Kirschner, A., Schnitzer, G., Savio, D., Mach, R.L., Bahlmann, A., Schulze, Tobias, Brack, Werner, Farnleitner, A.H., Liška, I., Wagner, F., Sengl, M., Deutsch, K., Slobodník, J., Reischer, G.H., Kirschner, A., Schnitzer, G., Savio, D., Mach, R.L., Bahlmann, A., Schulze, Tobias, Brack, Werner, and Farnleitner, A.H.

Published
2015

45. Human biodistribution, dosimetry and clinical use of technetium(III)-99m-Q12

Author

ROSSETTI, CHIARA, Vanoli, G, Paganelli, G, Kwiatkowski, M, Zito, F, Colombo, F, BONINO, CATERINA, Carpinelli, A, CASATI, ROBERTA, Deutsch, K, Marmion, M, Woulfe, S, Lunghi, F, Deutsch, E, FAZIO, FERRUCCIO, Rossetti, C, Vanoli, G, Paganelli, G, Kwiatkowski, M, Zito, F, Colombo, F, Bonino, C, Carpinelli, A, Casati, R, Deutsch, K, Marmion, M, Woulfe, S, Lunghi, F, Deutsch, E, and Fazio, F

Subjects
Adult, Male, Time Factors, Time Factor, Heart, Coronary Disease, Fasting, Organotechnetium Compounds, Radiation Dosage, Exercise Test, Humans, Furan, Tissue Distribution, Female, Furans, Radionuclide Imaging, Human
Abstract

Technetium(III)-99m-Q12, trans-(1,2-bis(dihydro-2,2,5,5-tetramethyl- 3(2H)furanone-4-methyleneimino)ethane)bis(tris(3-methoxy-1-propyl)- phosphine)technetium(III)-99m, is a nonreducible complex of Tc(III) which is herein evaluated as a myocardial perfusion imaging agent. Methods: The biodistribution and dosimetry of 99mTc-Q12 were assessed in 10 normal volunteers, while its potential clinical use was evaluated in 70 patients. Results: Safety parameters measured up to 24 hr postinjection demonstrate no clinically significant drug-related adverse reactions. Technetium(III)-99m- Q12 exhibits good heart uptake (2.2% injected dose at 1 hr postinjection under resting conditions) and no detectable myocardial washout or redistribution up to 5 hr postinjection. The biodistribution is characterized by very rapid hepatobiliary clearance which allows effective myocardial imaging at times as short as 15 min postinjection. Blood and plasma clearances and myocardial uptake are rapid, while lung uptake is minimal. The heart-to-lung and heart-to-liver ratios are higher at stress than at rest, independent of the time elapsed between injection and image acquisition, and independent of whether the patient is fasted or fed after tracer administration. A preliminary correlation shows that 46/47 patients with angiographically demonstrated CAD also have perfusion defects demonstrated by 99mTc-Q12. Conclusions: On the basis of the studies reported herein, 99mTc-Q12 appears to be a promising myocardial perfusion imaging agent

Published
1994

46. Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families

Author

Bailey-Wilson, JE, Childs, EJ, Cropp, CD, Schaid, DJ, Xu, J, Camp, NJ, Cannon-Albright, LA, Farnham, JM, George, A, Powell, I, Carpten, JD, Giles, GG, Hopper, JL, Severi, G, English, DR, Foulkes, WD, Maehle, L, Moller, P, Eeles, R, Easton, D, Guy, M, Edwards, S, Badzioch, MD, Whittemore, AS, Oakley-Girvan, I, Hsieh, C-L, Dimitrov, L, Stanford, JL, Karyadi, DM, Deutsch, K, McIntosh, L, Ostrander, EA, Wiley, KE, Isaacs, SD, Walsh, PC, Thibodeau, SN, McDonnell, SK, Hebbring, S, Lange, EM, Cooney, KA, Tammela, TLJ, Schleutker, J, Maier, C, Bochum, S, Hoegel, J, Gronberg, H, Wiklund, F, Emanuelsson, M, Cancel-Tassin, G, Valeri, A, Cussenot, O, Isaacs, WB, Bailey-Wilson, JE, Childs, EJ, Cropp, CD, Schaid, DJ, Xu, J, Camp, NJ, Cannon-Albright, LA, Farnham, JM, George, A, Powell, I, Carpten, JD, Giles, GG, Hopper, JL, Severi, G, English, DR, Foulkes, WD, Maehle, L, Moller, P, Eeles, R, Easton, D, Guy, M, Edwards, S, Badzioch, MD, Whittemore, AS, Oakley-Girvan, I, Hsieh, C-L, Dimitrov, L, Stanford, JL, Karyadi, DM, Deutsch, K, McIntosh, L, Ostrander, EA, Wiley, KE, Isaacs, SD, Walsh, PC, Thibodeau, SN, McDonnell, SK, Hebbring, S, Lange, EM, Cooney, KA, Tammela, TLJ, Schleutker, J, Maier, C, Bochum, S, Hoegel, J, Gronberg, H, Wiklund, F, Emanuelsson, M, Cancel-Tassin, G, Valeri, A, Cussenot, O, and Isaacs, WB

Abstract

BACKGROUND: Genetic variants are likely to contribute to a portion of prostate cancer risk. Full elucidation of the genetic etiology of prostate cancer is difficult because of incomplete penetrance and genetic and phenotypic heterogeneity. Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive. METHODS: Parametric and non-parametric linkage analyses were performed using 26 microsatellite markers in each of 11 groups of multiple-case prostate cancer families from the International Consortium for Prostate Cancer Genetics (ICPCG). Meta-analyses of the resultant family-specific linkage statistics across the entire 1,323 families and in several predefined subsets were then performed. RESULTS: Meta-analyses of linkage statistics resulted in a maximum parametric heterogeneity lod score (HLOD) of 1.28, and an allele-sharing lod score (LOD) of 2.0 in favor of linkage to Xq27-q28 at 138 cM. In subset analyses, families with average age at onset less than 65 years exhibited a maximum HLOD of 1.8 (at 138 cM) versus a maximum regional HLOD of only 0.32 in families with average age at onset of 65 years or older. Surprisingly, the subset of families with only 2-3 affected men and some evidence of male-to-male transmission of prostate cancer gave the strongest evidence of linkage to the region (HLOD = 3.24, 134 cM). For this subset, the HLOD was slightly increased (HLOD = 3.47 at 134 cM) when families used in the original published report of linkage to Xq27-28 were excluded. CONCLUSIONS: Although there was not strong support for linkage to the Xq27-28 region in the complete set of families, the subset of families with earlier age at onset exhibited more evidence of linkage than families with later onset of disease. A subset of families with 2-3 affected individuals and with some evidence of male to male disease transmission showed stronger linkage signals. O

Published
2012

48. Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus

Author

Johanneson, B., primary, McDonnell, S. K., additional, Karyadi, D. M., additional, Quignon, P., additional, McIntosh, L., additional, Riska, S. M., additional, FitzGerald, L. M., additional, Johnson, G., additional, Deutsch, K., additional, Williams, G., additional, Tillmans, L. S., additional, Stanford, J. L., additional, Schaid, D. J., additional, Thibodeau, S. N., additional, and Ostrander, E. A., additional

Published
2010
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