TY - JOUR A1 - van der Valk, Ralf J. P. A1 - Kreiner-Moller, Eskil A1 - Kooijman, Marjolein N. A1 - Guxens, Monica A1 - Stergiakouli, Evangelia A1 - Saaf, Annika A1 - Bradfield, Jonathan P. A1 - Geller, Frank A1 - Hayes, M. Geoffrey A1 - Cousminer, Diana L. A1 - Koerner, Antje A1 - Thiering, Elisabeth A1 - Curtin, John A. A1 - Myhre, Ronny A1 - Huikari, Ville A1 - Joro, Raimo A1 - Kerkhof, Marjan A1 - Warrington, Nicole M. A1 - Pitkanen, Niina A1 - Ntalla, Ioanna A1 - Horikoshi, Momoko A1 - Veijola, Riitta A1 - Freathy, Rachel M. A1 - Teo, Yik-Ying A1 - Barton, Sheila J. A1 - Evans, David M. A1 - Kemp, John P. A1 - St Pourcain, Beate A1 - Ring, Susan M. A1 - Smith, George Davey A1 - Bergstrom, Anna A1 - Kull, Inger A1 - Hakonarson, Hakon A1 - Mentch, Frank D. A1 - Bisgaard, Hans A1 - Chawes, Bo Lund Krogsgaard A1 - Stokholm, Jakob A1 - Waage, Johannes A1 - Eriksen, Patrick A1 - Sevelsted, Astrid A1 - Melbye, Mads A1 - van Duijn, Cornelia M. A1 - Medina-Gomez, Carolina A1 - Hofman, Albert A1 - de Jongste, Johan C. A1 - Taal, H. Rob A1 - Uitterlinden, Andre G. A1 - Armstrong, Loren L. A1 - Eriksson, Johan A1 - Palotie, Aarno A1 - Bustamante, Mariona A1 - Estivill, Xavier A1 - Gonzalez, Juan R. A1 - Llop, Sabrina A1 - Kiess, Wieland A1 - Mahajan, Anubha A1 - Flexeder, Claudia A1 - Tiesler, Carla M. T. A1 - Murray, Clare S. A1 - Simpson, Angela A1 - Magnus, Per A1 - Sengpiel, Verena A1 - Hartikainen, Anna-Liisa A1 - Keinanen-Kiukaanniemi, Sirkka A1 - Lewin, Alexandra A1 - Alves, Alexessander Da Silva Couto A1 - Blakemore, Alexandra I. F. A1 - Buxton, Jessica L. A1 - Kaakinen, Marika A1 - Rodriguez, Alina A1 - Sebert, Sylvain A1 - Vaarasmaki, Marja A1 - Lakka, Timo A1 - Lindi, Virpi A1 - Gehring, Ulrike A1 - Postma, Dirkje S. A1 - Ang, Wei A1 - Newnham, John P. A1 - Lyytikainen, Leo-Pekka A1 - Pahkala, Katja A1 - Raitakari, Olli T. A1 - Panoutsopoulou, Kalliope A1 - Zeggini, Eleftheria A1 - Boomsma, Dorret I. A1 - Groen-Blokhuis, Maria A1 - Ilonen, Jorma A1 - Franke, Lude A1 - Hirschhorn, Joel N. A1 - Pers, Tune H. A1 - Liang, Liming A1 - Huang, Jinyan A1 - Hocher, Berthold A1 - Knip, Mikael A1 - Saw, Seang-Mei A1 - Holloway, John W. A1 - Melen, Erik A1 - Grant, Struan F. A. A1 - Feenstra, Bjarke A1 - Lowe, William L. A1 - Widen, Elisabeth A1 - Sergeyev, Elena A1 - Grallert, Harald A1 - Custovic, Adnan A1 - Jacobsson, Bo A1 - Jarvelin, Marjo-Riitta A1 - Atalay, Mustafa A1 - Koppelman, Gerard H. A1 - Pennell, Craig E. A1 - Niinikoski, Harri A1 - Dedoussis, George V. A1 - Mccarthy, Mark I. A1 - Frayling, Timothy M. A1 - Sunyer, Jordi A1 - Timpson, Nicholas J. A1 - Rivadeneira, Fernando A1 - Bonnelykke, Klaus A1 - Jaddoe, Vincent W. V. T1 - A novel common variant in DCST2 is associated with length in early life and height in adulthood JF - Human molecular genetics N2 - Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 x 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; beta = 0.046, SE = 0.008, P = 2.46 x 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 x 10(-4)) and adult height (N = 127 513; P = 1.45 x 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height. Y1 - 2015 U6 - https://doi.org/10.1093/hmg/ddu510 SN - 0964-6906 SN - 1460-2083 VL - 24 IS - 4 SP - 1155 EP - 1168 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Neuschäfer-Rube, Frank A1 - Oppermann, Martin A1 - Möller, Ulrike A1 - Böer, Ulrike A1 - Püschel, Gerhard Paul T1 - Agonist-induced phosphorylation by G protein-coupled receptor kinases of the EP4 receptor carboxyl-terminal domain in an EP3/EP4 prostaglandin E(2) receptor hybrid N2 - Prostaglandin E(2) receptors (EP-Rs) belong to the family of heterotrimeric G protein-coupled ectoreceptors with seven transmembrane domains. They can be subdivided into four subtypes according to their ligand-binding and G protein-coupling specificity: EP1 couple to G(q), EP2 and EP4 to G(s), and EP3 to G(i). The EP4-R, in contrast to the EP3beta-R, shows rapid agonist-induced desensitization. The agonist-induced desensitization depends on the presence of the EP4-R carboxyl-terminal domain, which also confers desensitization in a G(i)-coupled rEP3hEP4 carboxyl-terminal domain receptor hybrid (rEP3hEP4-Ct-R). To elucidate the possible mechanism of this desensitization, in vivo phosphorylation stimulated by activators of second messenger kinases, by prostaglandin E(2), or by the EP3-R agonist M&B28767 was investigated in COS-7 cells expressing FLAG-epitope-tagged rat EP3beta-R (rEP3beta-R), hEP4-R, or rEP3hEP4- Ct-R. Stimulation of protein kinase C with phorbol-12-myristate-13-acetate led to a slight phosphorylation of the FLAG- rEP3beta-R but to a strong phosphorylation of the FLAG-hEP4-R and the FLAG-rEP3hEP4-Ct-R, which was suppressed by the protein kinase A and protein kinase C inhibitor staurosporine. Prostaglandin E(2) stimulated phosphorylation of the FLAG- hEP4-R in its carboxyl-terminal receptor domain. The EP3-R agonist M&B28767 induced a time- and dose-dependent phosphorylation of the FLAG-rEP3hEP4-Ct-R but not of the FLAG-rEP3beta-R. Agonist-induced phosphorylation of the FLAG- hEP4-R and the FLAG-rEP3hEP4-Ct-R were not inhibited by staurosporine, which implies a role of G protein-coupled receptor kinases (GRKs) in agonist-induced receptor phosphorylation. Overexpression of GRKs in FLAG-rEP3hEP4-Ct-R- expressing COS-7 cells augmented the M&B28767-induced receptor phosphorylation and receptor sequestration. These findings indicate that phosphorylation of the carboxyl-terminal hEP4-R domain possibly by GRKs but not by second messenger kinases may be involved in rapid agonist-induced desensitization of the hEP4-R and the rEP3hEP4-Ct-R. Y1 - 1999 SN - 1521-0111 ER - TY - JOUR A1 - Thonicke, Mady A1 - Frank, Ulrike T1 - Biofeedback in der Dysphagietherapie BT - Unterstützung therapeutischer Maßnahmen durch Oberflächen-Elektromyographie (sEMG) JF - Spektrum Patholinguistik (Band 8) - Schwerpunktthema: Besonders behandeln? : Sprachtherapie im Rahmen primärer Störungsbilder KW - Patholinguistik KW - Sprachtherapie KW - geistige Behinderung KW - primär progessive Aphasie KW - patholinguistics KW - speech therapy KW - mental deficiency KW - primary progessive aphasia Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-79891 SP - 243 EP - 247 PB - Universitätsverlag Potsdam CY - Potsdam ER - TY - JOUR A1 - Frank, Ulrike A1 - Frank, Katrin T1 - COVID-19 BT - neue Herausforderungen in der Dysphagie- und Atemtherapie BT - new challenges in dysphagia and respiratory therapy JF - Der Nervenarzt : Organ der Deutschen Gesellschaft für Psychiatrie, Psychotherapie und Nervenheilkunde ; Mitteilungsblatt der Deutschen Gesellschaft für Neurologie N2 - Eine COVID-19-Erkrankung kann zu schweren Krankheitsverläufen mit multiplen Organbeteiligungen und respiratorischen und neurologischen Funktionseinschränkungen führen. Schluckstörungen (Dysphagien) können in dieser Patientengruppe durch primäre Schädigungen des zentralen und peripheren neuronalen Netzwerkes der Schluckfunktion entstehen, aber auch bedingt durch die häufig längere intensivmedizinische Behandlung und Beatmung. Erste klinische Befunde zeigen persistierende Dysphagien im Rahmen des Post-COVID-Syndroms („Long-COVID“), sodass die Patienten auch längerfristige Maßnahmen zur Rehabilitation einer sicheren und suffizienten oralen Nahrungsaufnahme benötigen. Daher sollte in die Behandlung von COVID-19-Patienten ein strukturiertes erkrankungsspezifisches Monitoring in Bezug auf Dysphagiesymptome integriert werden, und atemtherapeutische Maßnahmen zur Regulation von Husteneffektivität und Atem-Schluck-Koordination sollten auch bei diesen Patienten essenzieller Bestandteil des Dysphagiemanagements sein. Herausforderungen ergeben sich dabei einerseits durch die erforderlichen Anpassungen etablierter Behandlungsstandards an den Infektionsschutz. Zudem müssen Auswahl und Durchführungsintensität therapeutischer Maßnahmen an die Kapazitäten und die spezifische Pathophysiologie der COVID-19- und Long-COVID-Patienten angepasst werden, um weitere funktionelle Verschlechterungen zu vermindern. N2 - Coronavirus disease 2019 (COVID-19) can lead to severe disease courses with multiple organ involvement, respiratory and neurological functional impairments. Swallowing disorders (dysphagia) in this patient group can result from primary damage to the central and peripheral neuronal swallowing network but also from the frequently prolonged intensive care treatment and mechanical ventilation. Clinical observations indicate persistence of dysphagia in post-acute COVID-19 syndrome (long COVID), so that these patients probably also need long-term interventions for rehabilitation of safe and sufficient oral feeding. Therefore, structured disease-specific monitoring of dysphagia symptoms should be integrated into the treatment of COVID-19 patients and respiratory therapy should be an essential part of dysphagia management to re-establish cough effectiveness and breathing-swallowing coordination. Challenges arise from necessary adjustments to established treatment standards to prevent infections. Furthermore, the selection and intensity of therapeutic measures have to be adapted to the capacities and the specific pathophysiology of COVID-19 and long COVID patients to prevent further functional deterioration. KW - Long COVID KW - Fatigue KW - Post intensive care syndrome (PICS) KW - Laryngeal functions KW - Laryngeale Funktionen KW - Hypoxemia KW - Hypoxämie KW - Long-COVID Y1 - 2021 U6 - https://doi.org/10.1007/s00115-021-01162-5 SN - 0028-2804 SN - 1433-0407 VL - 93 IS - 2 SP - 167 EP - 174 PB - Springer CY - New York ER - TY - JOUR A1 - Düsterhöft, Stefanie A1 - Frank, Ulrike T1 - Das PNF-Konzept Anwendung in der orofacialen Therapie Y1 - 2011 ER - TY - JOUR A1 - Sticher, Heike A1 - Czepluch, Christine A1 - Mätzener, Flurina A1 - Wilmes, Stefanie A1 - Hadert, Sandra A1 - Frank, Ulrike A1 - Mäder, Mark T1 - Dekanülierungsmanagment bei Patienten mit respiratorischen Beeinträchtigungen und Dysphagie Y1 - 2011 ER - TY - JOUR A1 - Posse, Dorothea A1 - Frank, Ulrike T1 - Der Einfluss des Lee Silverman Voice Treatment (LSVT) auf die Hypernasalität bei Dysarthrie Y1 - 2011 ER - TY - JOUR A1 - Peiffers, Sabine A1 - Frank, Ulrike T1 - Der Einfluss von Körperparametern auf das Schluckvolumen bei gesunden Erwachsenen JF - Spektrum Patholinguistik (Band 8) - Schwerpunktthema: Besonders behandeln? : Sprachtherapie im Rahmen primärer Störungsbilder KW - Patholinguistik KW - Sprachtherapie KW - geistige Behinderung KW - primär progessive Aphasie KW - patholinguistics KW - speech therapy KW - mental deficiency KW - primary progessive aphasia Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-79882 SP - 239 EP - 242 PB - Universitätsverlag Potsdam CY - Potsdam ER - TY - JOUR A1 - Puritz, Caroline A1 - Seidl, Rainer Ottis A1 - Frank, Ulrike T1 - Die Auswirkungen des Lee Silverman Voice Treatments (LSVT) auf die kortikalen Repräsentation der Schluckmuskulatur bei Patienten mit Morbus Parkinson Y1 - 2011 ER - TY - THES A1 - Frank, Ulrike T1 - Die Behandlung tracheotomierter Patienten mit schwerer Dysphagie : eine explorative Studie zur Evaluation eines interdisziplinären Interventionsansatzes T1 - Treating tracheotomized patients with severe dysphagia : an explorative evaluation of a multidisciplinary treatment protocol N2 - In der neurologischen Rehabilitation werden in zunehmendem Maße tracheotomierte Patienten mit schweren Dysphagien behandelt. Daher sollte den hierzu bisher entwickelten Interventionsverfahren eine evidenzbasierte Grundlage gegeben werden. In der vorliegenden Arbeit wird ein multidisziplinärer Behandlungsansatz zur Trachealkanülenentwöhung und Dekanülierung vorgestellt, der auf der Grundlage der relevanten Forschungsliteratur und klinischen Beobachtungen entwickelt wurde. Des Weiteren wird erstmals eine systematische Evaluation eines multidisziplinären Trachealkanülenmangements vorgenommen und es werden explorative Daten zum Rehabilitationsverlauf dargestellt. In einem retrospektiven Vergleich wurden hierzu die Dekanülierungs- und Komplikationsraten sowie die Dauer der Trachealkanülenentwöhnung zweier Patientengruppen gegenübergestellt, die vor bzw. nach Einführung des beschriebenen multidisziplinären Trachealkanülenmanagements im REHAB Basel, Schweiz, behandelt wurden. Der rehabilitative Verlauf der multidisziplinär behandelten Gruppe wurde mittels der Messinstrumente FIM (Functional Independence Measure) und EFA (Early Functional Abilities) untersucht. Der Vergleich der Dekanülierungs- und Komplikationsraten ergab eine vergleichbare Effektivität der beiden Behandlungsansätze. Darüber hinaus zeigte sich eine signifikante Verkürzung der Kanülenentwöhnungsphase bei Anwendung des multidisziplinären Vorgehens, so dass dieses als effizenter zu beurteilen ist. Die Verlaufsanalyse der multidisziplinär behandelten Patienten ergab erst nach der Dekanülierung einen signifikanten Zuwachs der funktionellen Selbständigkeit in Alltagsaktivitäten. Bei der Mehrzahl der Patienten konnte ein vollständiger oraler Kostaufbau nach der Dekanülierung erreicht werden. N2 - In neurological rehabilitation there is a growing need for information about treatment of tracheotomized dysphagic individuals and treatment methods have to be evaluated objectively. This dissertation presents a multidisciplinary approach for the treatment of tracheotomized dysphagic patients that was developed based on research findings and clinical experiences. Furthermore it presents a first approach to a systematic evaluation of a multidisciplinary treatment protocol and explorative data about the rehabilitative progress in this patient group. In a retrospective analysis mean cannulation times and the success rate of decannulation from patients were compared before and after introduction of the multidisciplinary procedure in a rehabilitation centre, REHAB Basel, Switzerland. Furthermore, the rehabilitation progress was analyzed by means of the assessment tools ‘Functional Independence Measure (FIM)’ and ‘Early Functional Abilities (EFA)’. Decannulation rates and success of decannulation were comparable in both groups of patients. With regard to mean cannulation times, however, a significant reduction was found in the group who underwent multidisciplinary treatment. This indicates a higher efficiency of the multidisciplinary approach, whereas, with regard to effectiveness, the two approaches seem to be comparable. After decannulation the patients of the multidisciplinary group showed clear functional improvements in performing activities of daily living. Most of these patients were able to return to full oral nutrition after decannulation. The multidisciplinary approach was found to be more efficient than the former intradisciplinary protocol as it led to a safe but faster decannulation of tracheotomized dysphagic patients. The explorative data concerning rehabilitation progress in these patients supports the importance of the development of evidence-based treatment protocols that lead to a fast and safe decannulation. This can be considered the basis for further significant improvement of the functional independence of the tracheotomized dysphagic patient. KW - Dysphagie KW - Tracheotomie KW - Trachealkanülenmanagement KW - Interdisziplinäre Behandlung KW - Dysphagia KW - tracheostomy KW - decannulation KW - multidisciplinary approach Y1 - 2008 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus-20164 SN - 978-3-940793-55-3 PB - Universitätsverlag Potsdam CY - Potsdam ER -