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https://www.readbyqxmd.com/read/27068298/proximal-muscular-atrophy-and-weakness-an-unusual-adverse-effect-of-deferasirox-iron-chelation-therapy
#1
K Vill, W Müller-Felber, V Teusch, A Blaschek, L Gerstl, S Huetker, M H Albert
Deferasirox is a standard treatment for chronic transfusional iron overload. Adverse effects of deferasirox have been reported in large prospective studies. We report two cases of monozygotic twins manifesting with proximal muscular atrophy and weakness under deferasirox. Discontinuation of deferasirox resulted in symptom improvement and ultimately in complete remission five months after successful haematopoietic stem cell transplantation. Broad diagnostic work-up could not bring evidence of another aetiology of muscular weakness...
April 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/25455803/muscle-ultrasound-in-classic-infantile-and-adult-pompe-disease-a-useful-screening-tool-in-adults-but-not-in-infants
#2
K Vill, J Schessl, V Teusch, S Schroeder, A Blaschek, B Schoser, W Müller-Felber
A cohort of 4 infantile and 15 adult Pompe patients has been investigated regarding correlation between strength and ultrasound of skeletal musculature. In adults, muscle ultrasound is useful to assess clinical and subclinical involvement of muscles. In this study, visible sonographic changes were found in every clinically affected muscle, using a modified Heckmatt scale. In some muscles morphologic changes preceded weakness. Regarding the anatomical pattern of involvement, our findings do not support the hypothesis of a specific pattern with a higher vulnerability of vastus intermedius than rectus femoris, which has been postulated before...
February 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/24368763/abstracts-of-presentations-at-the-international-conference-on-basic-and-clinical-multimodal-imaging-baci-a-joint-conference-of-the-international-society-for-neuroimaging-in-psychiatry-isnip-the-international-society-for-functional-source-imaging-isfsi-the-international
#3
B J He, G Nolte, K Nagata, D Takano, T Yamazaki, Y Fujimaki, T Maeda, Y Satoh, S Heckers, M S George, F Lopes da Silva, J C de Munck, P J Van Houdt, R M Verdaasdonk, P Ossenblok, K Mullinger, R Bowtell, A P Bagshaw, D Keeser, S Karch, F Segmiller, I Hantschk, A Berman, F Padberg, O Pogarell, F Scharnowski, S Karch, S Hümmer, D Keeser, M Paolini, V Kirsch, G Koller, B Rauchmann, M Kupka, J Blautzik, O Pogarell, N Razavi, K Jann, T Koenig, M Kottlow, M Hauf, W Strik, T Dierks, J Gotman, S Vulliemoz, Y Lu, H Zhang, L Yang, G Worrell, B He, O Gruber, C Piguet, D Hubl, Ph Homan, J Kindler, T Dierks, K Kim, U Steinhoff, R Wakai, T Koenig, M Kottlow, L Melie-García, A Mucci, U Volpe, A Prinster, M Salvatore, S Galderisi, D E J Linden, D Brandeis, C E Schroeder, C Kayser, S Panzeri, A Kleinschmidt, P Ritter, S Walther, J Haueisen, S Lau, L Flemming, H Sonntag, B Maess, T R Knösche, B Lanfer, M Dannhauer, C H Wolters, M Stenroos, J Haueisen, C Wolters, U Aydin, B Lanfer, S Lew, F Lucka, L Ruthotto, J Vorwerk, S Wagner, C Ramon, C Guan, K K Ang, S G Chua, W K Kuah, K S Phua, E Chew, H Zhou, K H Chuang, B T Ang, C Wang, H Zhang, H Yang, Z Y Chin, H Yu, Y Pan, L Collins, B Mainsah, K Colwell, K Morton, D Ryan, E Sellers, K Caves, S Throckmorton, A Kübler, E M Holz, C Zickler, E Sellers, D Ryan, K Brown, K Colwell, B Mainsah, K Caves, S Throckmorton, L Collins, R Wennberg, S P Ahlfors, C Grova, R Chowdhury, T Hedrich, M Heers, R Zelmann, J A Hall, J M Lina, E Kobayashi, T Oostendorp, P van Dam, P Oosterhof, A Linnenbank, R Coronel, P van Dessel, J de Bakker, B Rossion, C Jacques, N Witthoft, K S Weiner, B L Foster, K J Miller, D Hermes, J Parvizi, K Grill-Spector, G H Recanzone, M M Murray, J D Haynes, J Richiardi, M Greicius, M De Lucia, K-R Müller, E Formisano, R Smieskova, A Schmidt, K Bendfeldt, A Walter, A Riecher-Rössler, S Borgwardt, P Fusar-Poli, S Eliez, A Schmidt, K Sekihara, S S Nagarajan, J M Schoffelen, A G Guggisberg, G Nolte, S Balazs, K Kermanshahi, W Kiesenhofer, H Binder, F Rattay, A Antal, L Chaieb, W Paulus, I Bodis-Wollner, K Maurer, G Fein, J Camchong, J Johnstone, V Cardenas-Nicolson, L D J Fiederer, F Lucka, S Yang, J Vorwerk, M Dümpelmann, D Cosandier-Rimélé, A Schulze-Bonhage, A Aertsen, O Speck, C H Wolters, T Ball, M Fuchs, M Wagner, J Kastner, R Tech, C Dinh, J Haueisen, D Baumgarten, M S Hämäläinen, S Lau, S J Vogrin, W D'Souza, J Haueisen, M J Cook, A Custo, D Van De Ville, S Vulliemoz, F Grouiller, C M Michel, J Malmivuo, U Aydin, J Vorwerk, P Küpper, M Heers, H Kugel, J Wellmer, C Kellinghaus, M Scherg, S Rampp, C Wolters, S F Storti, I Boscolo Galazzo, A Del Felice, F B Pizzini, C Arcaro, E Formaggio, R Mai, P Manganotti, L Koessler, J Vignal, T Cecchin, S Colnat-Coulbois, H Vespignani, G Ramantani, L Maillard, I Rektor, R Kuba, M Brázdil, J Chrastina, I Rektorova, P van Mierlo, E Carrette, G Strobbe, V Montes-Restrepo, K Vonck, S Vandenberghe, B Ahmed, C Brodely, C Carlson, R Kuzniecky, O Devinsky, J French, T Thesen, D Bénis, O David, J-P Lachaux, E Seigneuret, P Krack, V Fraix, S Chabardès, J Bastin, K Jann, D Gee, E Kilroy, T Cannon, D J Wang, J R Hale, S D Mayhew, I Przezdzik, T N Arvanitis, A P Bagshaw, G Plomp, C Quairiaux, L Astolfi, C M Michel, S D Mayhew, K J Mullinger, A P Bagshaw, R Bowtell, S T Francis, A C Schouten, S F Campfens, H van der Kooij, Z Koles, J Lind, P Flor-Henry, M Wirth, C M Haase, S Villeneuve, J Vogel, W J Jagust, L Kambeitz-Ilankovic, L Simon-Vermot, B Gesierich, M Duering, M Ewers, I Rektorova, L Krajcovicova, R Marecek, M Mikl, T Bracht, H Horn, W Strik, A Federspiel, S Schnell, O Höfle, K Stegmayer, R Wiest, T Dierks, T J Müller, S Walther, T Surmeli, A Ertem, E Eralp, I H Kos, W Skrandies, S Flüggen, A Klein, J Britz, L Díaz Hernàndez, T Ro, C M Michel, A Lenartowicz, E Lau, C Rodriguez, M S Cohen, S K Loo, G Di Lorenzo, M Pagani, L Monaco, A Daverio, I Giannoudas, P La Porta, A R Verardo, C Niolu, I Fernandez, A Siracusano, P Flor-Henry, J Lind, Z Koles, S Bollmann, C Ghisleni, R O'Gorman, S-S Poil, P Klaver, L Michels, E Martin, J Ball, D Eich-Höchli, D Brandeis, D F Salisbury, T K Murphy, C D Butera, D H Mathalon, S L Fryer, K A Kiehl, V C Calhoun, G D Pearlson, B J Roach, J M Ford, T H McGlashan, S W Woods, U Volpe, E Merlotti, A Vignapiano, V Montefusco, G M Plescia, O Gallo, P Romano, A Mucci, S Galderisi, G Mingoia, K Langbein, M Dietzek, G Wagner, Smesny, S Scherpiet, R Maitra, Ch Gaser, H Sauer, I Nenadic, S Gonzalez Andino, R Grave de Peralta Menendez, R Grave de Peralta Menendez, M Sanchez Vives, B Rebollo, S Gonzalez Andino, L Frølich, T S Andersen, M Mørup, P Belfiore, P Gargiulo, C Ramon, S Vanhatalo, J-H Cho, J Vorwerk, C H Wolters, T R Knösche, T Watanabe, Y Kawabata, D Ukegawa, S Kawabata, Y Adachi, K Sekihara, K Sekihara, S S Nagarajan, S Wagner, U Aydin, J Vorwerk, C Herrmann, M Burger, C Wolters, F Lucka, U Aydin, J Vorwerk, M Burger, Ch Wolters, M Bauer, L Trahms, T Sander, P L Faber, D Lehmann, L R R Gianotti, R D Pascual-Marqui, P Milz, K Kochi, S Kaneko, S Yamashita, K Yana, K Kalogianni, A N Vardy, A C Schouten, F C T van der Helm, A Sorrentino, G Luria, R Aramini, A Hunold, M Funke, R Eichardt, J Haueisen, F Gómez-Aguilar, S Vázquez-Olvera, T Cordova-Fraga, J Castro-López, M A Hernández-Gonzalez, S Solorio-Meza, M Sosa-Aquino, J J Bernal-Alvarado, M Vargas-Luna, J Vorwerk, L Magyari, J Ludewig, R Oostenveld, C H Wolters, J Vorwerk, C Engwer, J Ludewig, Ch Wolters, K Sato, T Nishibe, M Furuya, K Yamashiro, K Yana, T Ono, N Puthanmadam Subramaniyam, J Hyttinen, S Lau, D Güllmar, L Flemming, J Haueisen, H Sonntag, J Vorwerk, C H Wolters, L Grasedyck, J Haueisen, B Maeß, S Freitag, U Graichen, P Fiedler, D Strohmeier, J Haueisen, M Stenroos, O Hauk, M Grigutsch, M Felber, B Maess, B Herrmann, G Strobbe, P van Mierlo, S Vandenberghe, G Strobbe, D Cárdenas-Peña, V Montes-Restrepo, P van Mierlo, G Castellanos-Dominguez, S Vandenberghe, B Lanfer, I Paul-Jordanov, M Scherg, C H Wolters, Y Ito, D Sato, K Kamada, T Kobayashi, S S Dalal, S Rampp, F Willomitzer, O Arold, S Fouladi-Movahed, G Häusler, H Stefan, S Ettl, S Zhang, Y Zhang, H Li, X Kong, V Montes-Restrepo, G Strobbe, P van Mierlo, S Vandenberghe, D D E Wong, A Bidet-Caulet, R T Knight, N E Crone, S S Dalal, G Birot, L Spinelli, S Vulliémoz, M Seeck, C M Michel, H Emory, C Wells, N Mizrahi, S J Vogrin, S Lau, M J Cook, F I Karahanoglu, F Grouiller, C Caballero-Gaudes, M Seeck, S Vulliemoz, D Van De Ville, L Spinelli, P Megevand, M Genetti, K Schaller, C Michel, S Vulliemoz, M Seeck, M Genetti, R Tyrand, F Grouiller, S Vulliemoz, L Spinelli, M Seeck, K Schaller, C M Michel, F Grouiller, S Heinzer, B Delattre, F Lazeyras, L Spinelli, F Pittau, M Seeck, O Ratib, M Vargas, V Garibotto, S Vulliemoz, S J Vogrin, C A Bailey, M Kean, A E Warren, A Davidson, M Seal, A S Harvey, J S Archer, M Papadopoulou, M Leite, P van Mierlo, K Vonck, P Boon, K Friston, D Marinazzo, C Ramon, M Holmes, L Koessler, E Rikir, M Gavaret, F Bartolomei, J P Vignal, H Vespignani, L Maillard, M Centeno, S Perani, K Pier, L Lemieux, J Clayden, C Clark, R Pressler, H Cross, D W Carmichael, A Spring, R Bessemer, D Pittman, Y Aghakhani, P Federico, F Pittau, F Grouiller, S Vulliémoz, J Gotman, J M Badier, C-G Bénar, F Bartolomei, C Cruto, P Chauvel, M Gavaret, V Brodbeck, T van Leeuwen, E Tagliazzuchi, L Melloni, H Laufs, I Griskova-Bulanova, K Dapsys, C Klein, J Hänggi, L Jäncke, B V Ehinger, P Fischer, A L Gert, L Kaufhold, F Weber, M Marchante Fernandez, G Pipa, P König, K Sekihara, E Hiyama, R Koga, E Iannilli, C M Michel, A-L Bartmuss, N Gupta, T Hummel, R Boecker, N Holz, A F Buchmann, D Blomeyer, M M Plichta, I Wolf, S Baumeister, A Meyer-Lindenberg, T Banaschewski, D Brandeis, M Laucht, S Natahara, M Ueno, T Kobayashi, M Kottlow, A Bänninger, T Koenig, S Schwab, T Koenig, A Federspiel, T Dierks, K Jann, H Natsukawa, T Kobayashi, L Tüshaus, T Koenig, M Kottlow, P Achermann, R S Wilson, S D Mayhew, S Assecondi, T N Arvanitis, A P Bagshaw, A Darque, T A Rihs, F Grouiller, F Lazeyras, R Ha-Vinh Leuchter, C Caballero, C M Michel, P S Hüppi, T U Hauser, L T Hunt, R Iannaccone, P Stämpfli, D Brandeis, R J Dolan, S Walitza, S Brem, U Graichen, R Eichardt, P Fiedler, D Strohmeier, S Freitag, F Zanow, J Haueisen, L Lordier, F Grouiller, D Van de Ville, A Sancho Rossignol, I Cordero, F Lazeyras, F Ansermet, P Hüppi, A Schläpfer, K Rubia, D Brandeis, G Di Lorenzo, M Pagani, L Monaco, A Daverio, I Giannoudas, A R Verardo, P La Porta, C Niolu, I Fernandez, A Siracusano, K Tamura, C Karube, T Mizuba, M Matsufuji, S Takashima, K Iramina, S Assecondi, D Ostwald, A P Bagshaw, R Marecek, M Brazdil, M Lamos, T Slavícek, R Marecek, J Jan, N M Meier, W Perrig, T Koenig, T Minami, Y Noritake, S Nakauchi, K Azuma, T Minami, S Nakauchi, C Rodriguez, A Lenartowicz, M S Cohen, C Rodriguez, A Lenartowicz, M S Cohen, K Iramina, H Kinoshita, K Tamura, C Karube, M Kaneko, J Ide, Y Noguchi, M S Cohen, P K Douglas, C M Rodriguez, H J Xia, E M Zimmerman, C J Konopka, P S Epstein, L M Konopka, S Giezendanner, M Fisler, L Soravia, J Andreotti, R Wiest, T Dierks, A Federspiel, N Razavi, A Federspiel, T Dierks, M Hauf, K Jann, K Kamada, D Sato, Y Ito, K Okano, N Mizutani, T Kobayashi, A Thelen, M Murray, L Pastena, E Formaggio, S F Storti, F Faralli, M Melucci, R Gagliardi, L Ricciardi, G Ruffino, A Coito, P Macku, R Tyrand, L Astolfi, B He, R Wiest, M Seeck, C Michel, G Plomp, S Vulliemoz, F Ph S Fischmeister, J Glaser, V Schöpf, H Bauer, R Beisteiner, F Deligianni, M Centeno, D W Carmichael, J Clayden, G Mingoia, K Langbein, M Dietzek, G Wagner, St Smesny, S Scherpiet, R Maitra, Ch Gaser, H Sauer, I Nenadic, S Dürschmid, T Zaehle, H Pannek, H F Chang, J Voges, J Rieger, R T Knight, H-J Heinze, H Hinrichs, V Tsatsishvili, F Cong, T Puoliväli, V Alluri, P Toiviainen, A K Nandi, E Brattico, T Ristaniemi, M Grieder, R M Crinelli, K Jann, A Federspiel, M Wirth, T Koenig, M Stein, L-O Wahlund, T Dierks, H Atsumori, R Yamaguchi, Y Okano, H Sato, T Funane, K Sakamoto, M Kiguchi, A Tränkner, S Schindler, F Schmidt, M Strauß, R Trampel, U Hegerl, R Turner, S Geyer, P Schönknecht, V Kebets, M van Assche, R Goldstein, M van der Meulen, P Vuilleumier, J Richiardi, D Van De Ville, F Assal, A Wozniak-Kwasniewska, D Szekely, S Harquel, T Bougerol, O David, T Bracht, D K Jones, H Horn, T J Müller, S Walther, P Sos, M Klirova, T Novak, M Brunovsky, J Horacek, M Bares, C Hoschl C, I Fellhauer, F G Zöllner, J Schröder, L Kong, M Essig, L R Schad, J Arrubla, I Neuner, D Hahn, F Boers, N Jon Shah, I Neuner, J Arrubla, D Hahn, F Boers, N Jon Shah, M Suriya Prakash, R Sharma, H Kawaguchi, T Kobayashi, P Fiedler, S Griebel, S Biller, C Fonseca, F Vaz, L Zentner, F Zanow, J Haueisen, V Rochas, T Rihs, G Thut, N Rosenberg, Th Landis, Ch Michel, V Moliadze, T Schmanke, E Lyzhko, S Bassüner, Ch Freitag, M Siniatchkin, R Thézé, A G Guggisberg, L Nahum, A Schnider, L Meier, H Friedrich, K Jann, B Landis, R Wiest, A Federspiel, W Strik, T Dierks, M Witte, S E Kober, C Neuper, G Wood, R König, A Matysiak, W Kordecki, C Sieluzycki, N Zacharias, P Heil, C Wyss, F Boers, J Arrubla, J Dammers, W Kawohl, I Neuner, N J Shah, C Braboszcz, R B Cahn, J Levy, M Fernandez, A Delorme, L Rosas-Martinez, E Milne, Y Zheng, Y Urakami, K Kawamura, Y Washizawa, K Hiyoshi, A Cichocki, N Giroud, V Dellwo, M Meyer, K S Rufener, F Liem, V Dellwo, M Meyer, J D Jones-Rounds, R Raizada, W Staljanssens, G Strobbe, P van Mierlo, R Van Holen, S Vandenberghe, M Pefkou, R Becker, C Michel, A Hervais-Adelman, W He, J Brock, B Johnson, K Ohla, K Hitz, K Heekeren, C Obermann, T Huber, G Juckel, W Kawohl, D Gabriel, A Comte, J Henriques, E Magnin, L Grigoryeva, J-P Ortega, E Haffen, T Moulin, L Pazart, R Aubry, M Kukleta, B Baris Turak, J Louvel, M Crespo-Garcia, J L Cantero, M Atienza, S Connell, K Kilborn, A Damborská, M Brázdil, I Rektor, M Kukleta, J L Koberda, A Bienkiewicz, I Koberda, P Koberda, A Moses, M Tomescu, T Rihs, J Britz, A Custo, F Grouiller, M Schneider, M Debbané, S Eliez, Ch Michel, G Y Wang, R Kydd, T A Wouldes, M Jensen, B R Russell, N Dissanayaka, T Au, A Angwin, J O'Sullivan, G Byrne, P Silburn, R Marsh, G Mellic, D Copland, A Bänninger, M Kottlow, L Díaz Hernàndez, T Koenig, L Díaz Hernàndez, A Bänninger, T Koenig, T U Hauser, R Iannaccone, C Mathys, J Ball, R Drechsler, D Brandeis, S Walitza, S Brem, P H Boeijinga, E W Pang, T Valica, M J Macdonald, A Oh, J P Lerch, E Anagnostou, G Di Lorenzo, M Pagani, L Monaco, A Daverio, A R Verardo, I Giannoudas, P La Porta, C Niolu, I Fernandez, A Siracusano, T Shimada, Y Matsuda, A Monkawa, T Monkawa, R Hashimoto, K Watanabe, Y Kawasaki, Y Matsuda, T Shimada, T Monkawa, A Monkawa, K Watanabe, Y Kawasaki, K Stegmayer, H Horn, A Federspiel, N Razavi, T Bracht, K Laimböck, W Strik, T Dierks, R Wiest, T J Müller, S Walther, L J Koorenhof, S J Swithenby, A Martins-Mourao, T A Rihs, M Tomescu, K W Song, A Custo, J F Knebel, M Murray, S Eliez, C M Michel, U Volpe, E Merlotti, A Vignapiano, V Montefusco, G M Plescia, O Gallo, P Romano, A Mucci, S Galderisi, K Laimboeck, K Jann, S Walther, A Federspiel, R Wiest, W Strik, H Horn
No abstract text is available yet for this article.
December 24, 2013: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/24300782/somatropin-treatment-of-spinal-muscular-atrophy-a-placebo-controlled-double-blind-crossover-pilot-study
#4
RANDOMIZED CONTROLLED TRIAL
J Kirschner, D Schorling, D Hauschke, C Rensing-Zimmermann, U Wein, U Grieben, G Schottmann, U Schara, K Konrad, W Müller-Felber, S Thiele, E Wilichowski, E Hobbiebrunken, G M Stettner, R Korinthenberg
In preclinical studies growth hormone and its primary mediator IGF-1 have shown potential to increase muscle mass and strength. A single patient with spinal muscular atrophy reported benefit after compassionate use of growth hormone. Therefore we evaluated the efficacy and safety of growth hormone treatment for spinal muscular atrophy in a multicenter, randomised, double-blind, placebo-controlled, crossover pilot trial. Patients (n = 19) with type II/III spinal muscular atrophy were randomised to receive either somatropin (0...
February 2014: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/23970402/-quality-of-life-after-brachial-plexus-lesions-in-adults
#5
M Holdenried, T L Schenck, J Akpaloo, W Müller-Felber, T Holzbach, R E Giunta
Brachial plexus lesions are among the most severe injuries of the upper extremity. Despite intensive conservative and surgical treatment efforts, patients frequently suffer from serious impairments in the quality of life. This contribution presents the results of a retrospective clinical survey on the quality of life after brachial plexus injuries. Out of 38 treated patients, 25 patients could be included in the study. The disability of arm, shoulder and hand was evaluated by the DASH score and the quality of life by the FLZm, a questionnaire on life satisfaction...
August 2013: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/23681354/early-white-matter-changes-in-childhood-multiple-sclerosis-a-diffusion-tensor-imaging-study
#6
A Blaschek, D Keeser, S Müller, I K Koerte, A Sebastian Schröder, W Müller-Felber, F Heinen, B Ertl-Wagner
BACKGROUND AND PURPOSE: Loss of integrity in nonlesional white matter occurs as a fundamental feature of multiple sclerosis in adults. The purpose of our study was to evaluate DTI-derived measures of white matter microstructure in children with MS compared with age- and sex-matched controls by using tract-based spatial statistics. MATERIALS AND METHODS: Fourteen consecutive pediatric patients with MS (11 female/3 male; mean age, 15.1 ± 1.6 years; age range, 12-17 years) and age- and sex-matched healthy subjects (11 female/3 male; mean age, 14...
October 2013: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/22528065/-anti-suicidal-effect-of-lithium-current-state-of-research-and-its-clinical-implications-for-the-long-term-treatment-of-affective-disorders
#7
REVIEW
U Lewitzka, M Bauer, W Felber, B Müller-Oerlinghausen
Treatment of patients with suicidal behaviour is one of the most challenging tasks for health care professionals. Due to the high mortality, morbidity and costs related to suicide, the development of treatment and preventive strategies for suicidal behaviour have been a focus of psychiatric research. For lithium, one of the oldest pharmacological agents used in psychiatry, anti-suicidal effects have been found since the early 90s in many international studies. Despite this unambiguous evidence and corresponding recommendations in national and international guidelines for the acute and maintenance therapy of affective disorders, the use of lithium is still underrepresented...
March 2013: Der Nervenarzt
https://www.readbyqxmd.com/read/21509702/-splints-in-birth-related-brachial-plexus-injuries
#8
T L Schenck, T Bayer, A Enders, M-A Marton, H-G Machens, W Müller-Felber, R E Giunta
Most cases of obstetrical brachial plexus palsies are mild traction injuries which resolve under physical therapy within several weeks or months. Severe ruptures or avulsion injuries of the plexus can lead to lifelong impairment of the upper extremities. Hence, in severe brachial plexus injuries the indications for brachial plexus reconstruction should be evaluated, early. At the age of about 3 months, the infant should be presented in a centre specialised in obstetrical brachial plexus palsies. In almost all cases intensive physical therapy is performed...
April 2011: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
https://www.readbyqxmd.com/read/19687455/consequences-of-mutations-within-the-c-terminus-of-the-fhl1-gene
#9
B Schoser, H H Goebel, I Janisch, S Quasthoff, J Rother, M Bergmann, W Müller-Felber, C Windpassinger
BACKGROUND: Mutations in the four-and-a-half LIM domain 1 gene (FHL1) cause X-linked late-onset scapuloaxioperoneal myopathy characterized by postural muscle atrophy with rigid spine syndrome with pseudoathleticism/hypertrophy (XMPMA), reducing body myopathy (RBM), and scapuloperoneal myopathy. Divergences in these diseases are hitherto unclear; therefore, we searched for additional families to elucidate differences and similarities of these allelic FHL1opathies. METHODS: Using genotyping and phenotyping (mutational analysis, muscle histopathology, and Western blotting) we characterized 10 affected men and 8 women from 7 families...
August 18, 2009: Neurology
https://www.readbyqxmd.com/read/19649685/enzyme-replacement-therapy-with-alglucosidase-alfa-in-44-patients-with-late-onset-glycogen-storage-disease-type-2-12-month-results-of-an-observational-clinical-trial
#10
S Strothotte, N Strigl-Pill, B Grunert, C Kornblum, K Eger, C Wessig, M Deschauer, F Breunig, F X Glocker, S Vielhaber, A Brejova, M Hilz, K Reiners, W Müller-Felber, E Mengel, M Spranger, Benedikt Schoser
Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid alpha-glucosidase (GAA) activity. GSD2 is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. Since 2006 alglucosidase alfa has been licensed as a treatment in all types of GSD2/Pompe disease. We here present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 44 late-onset GSD2 patients with various stages of disease severity...
January 2010: Journal of Neurology
https://www.readbyqxmd.com/read/19538466/mitochondrial-dna-depletion-and-fatal-infantile-hepatic-failure-due-to-mutations-in-the-mitochondrial-polymerase-%C3%AE-polg-gene-a-combined-morphological-enzyme-histochemical-and-immunocytochemical-biochemical-and-molecular-genetic-study
#11
J Müller-Höcker, R Horvath, S Schäfer, H Hessel, W Müller-Felber, J Kühr, W C Copeland, P Seibel
Combined morphological, immunocytochemical, biochemical and molecular genetic studies were performed on skeletal muscle, heart muscle and liver tissue of a 16-months boy with fatal liver failure. The pathological characterization of the tissues revealed a severe depletion of mtDNA (mitochondrial DNA) that was most pronounced in liver, followed by a less severe, but still significant depletion in skeletal muscle and the heart. The primary cause of the disease was linked to compound heterozygous mutations in the polymerase γ (POLG) gene (DNA polymerase γ; A467T, K1191N)...
February 2011: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/18808400/adjunctive-lithium-treatment-in-the-prevention-of-suicidal-behaviour-in-depressive-disorders-a-randomised-placebo-controlled-1-year-trial
#12
RANDOMIZED CONTROLLED TRIAL
E Lauterbach, W Felber, B Müller-Oerlinghausen, B Ahrens, T Bronisch, T Meyer, B Kilb, U Lewitzka, B Hawellek, A Quante, K Richter, A Broocks, F Hohagen
OBJECTIVE: Evidence based on controlled studies is still limited for treatment strategies that prevent recurrence of suicide attempts. Findings from observational as well as meta-analytic studies strongly suggest that lithium may have suicide-protective properties. METHOD: Patients with a recent suicide attempt in the context of an affective spectrum disorder (n = 167) were treated with either lithium or placebo during a 12-month period. RESULTS: Survival analysis showed no significant difference of suicidal acts between lithium and placebo-treated individuals (adjusted hazard ratio 0...
December 2008: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/18415608/-diagnostic-considerations-in-muscle-pain
#13
W Müller-Felber, D Pongratz
Although the greatest part of the human body is composed of muscle, diseases of the muscle, such as muscular dystrophies and inflamatory or metabolic myopathies, occur invery few patients. On the other hand, myalgia is one of the most common symptoms in routine clinical medicine. This is problematic, because muscular pain can be caused by many different physical and psychiatric diseases. In order to avoid unecessary and expensive laboratory tests a careful examination of clinical symptoms and signs is necessary...
September 1992: Der Schmerz
https://www.readbyqxmd.com/read/18078773/methods-for-a-prompt-and-reliable-laboratory-diagnosis-of-pompe-disease-report-from-an-international-consensus-meeting
#14
, B Winchester, D Bali, O A Bodamer, C Caillaud, E Christensen, A Cooper, E Cupler, M Deschauer, K Fumić, M Jackson, P Kishnani, L Lacerda, J Ledvinová, A Lugowska, Z Lukacs, I Maire, H Mandel, E Mengel, W Müller-Felber, M Piraud, A Reuser, T Rupar, I Sinigerska, M Szlago, F Verheijen, O P van Diggelen, B Wuyts, E Zakharova, J Keutzer
Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It presents at any age, with variable rates of progression ranging from a rapidly progressive course, often fatal by one-year of age, to a more slowly, but nevertheless relentlessly progressive course, resulting in significant morbidity and premature mortality. In infants, early initiation of enzyme replacement therapy is needed to gain the maximum therapeutic benefit, underscoring the need for early diagnosis...
March 2008: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/18028252/is-mao-b-activity-in-platelets-associated-with-the-occurrence-of-suicidality-and-behavioural-personality-traits-in-depressed-patients
#15
U Lewitzka, B Müller-Oerlinghausen, W Felber, J Brunner, B Hawellek, D Rujescu, M Ising, E Lauterbach, A Broocks, B Bondy, M L Rao, C Frahnert, I Heuser, F Hohagen, W Maier, T Bronisch
OBJECTIVE: Low platelet monoaminoxidase B (MAO-B) activity has been associated with various forms of impulsive behaviour and suicidality. The present study investigated the relationship between MAO-B activity in platelets and aspects of suicidality in depressed patients and controls. METHOD: In 87 patients with affective spectrum disorders (58% suffering from a major depressive episode - MDE) the potential association between platelet MAO-B activity and suicidality was examined...
January 2008: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/17573812/adult-onset-glycogen-storage-disease-type-2-clinico-pathological-phenotype-revisited
#16
B G H Schoser, J Müller-Höcker, R Horvath, K Gempel, D Pongratz, H Lochmüller, W Müller-Felber
The need for clinical awareness and diagnostic precision of glycogen storage disease type 2 (GSD2) has increased, as enzyme replacement therapy has become available. So far, only small series have reported the muscle pathology of late-onset GSD2. We reassessed 43 muscle biopsies of 38 GSD2 patients. In all patients the diagnosis of GSD2 has been established by biochemistry and/or mutational analysis of the GAA gene. Additionally to the expected morphological features, ultrastructural analysis revealed a high incidence of autophagic vacuoles, lipofuscin debris, structural Z-line disorganization and histological neurogenic-like pattern that were not thoroughly appreciated, previously...
October 2007: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/16931511/impaired-receptor-clustering-in-congenital-myasthenic-syndrome-with-novel-rapsn-mutations
#17
J S Müller, S K Baumeister, V M Rasic, S Krause, S Todorovic, K Kugler, W Müller-Felber, A Abicht, H Lochmüller
OBJECTIVE: Congenital myasthenic syndromes (CMS) with underlying RAPSN mutations turned out to be of high clinical relevance due to their worldwide frequency. To date, all reported patients with CMS with sequence variations in the translated region of RAPSN carry the mutation N88K on at least one allele. The authors report two patients lacking the common N88K allele but harboring differing novel mutations of the RAPSN gene on both alleles: one patient is homozygous for a missense mutation (R164C); the second patient is compound heterozygous for a splice (IVS1-15C>A) and another missense mutation (L283P)...
October 10, 2006: Neurology
https://www.readbyqxmd.com/read/16490043/prediction-of-response-to-ivig-treatment-in-patients-with-lower-motor-neurone-disorders
#18
COMPARATIVE STUDY
N Strigl-Pill, A König, M Schröder, H Beranek, B G H Schoser, M Spaeth, D Pongratz, W Müller-Felber
The distinction between multifocal motor neuropathy, treatable by intravenous immunoglobulins (IVIg), and degenerative motor neurone disorders is often difficult. To find predictive factors for the response to IVIg treatment, 40 consecutive patients with pure lower motor neurone disorders (LMND) were prospectively examined. They all received at least two times IVIg (2 g/kg bodyweight). Prior to the first and before all the following treatments a standardized evaluation was performed including clinical examination, neurophysiological and laboratory evaluation...
February 2006: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/16255516/-muscular-pain-in-viral-infections
#19
W Müller-Felber
No abstract text is available yet for this article.
October 6, 2005: MMW Fortschritte der Medizin
https://www.readbyqxmd.com/read/15298081/respiratory-insufficiency-as-a-presenting-symptom-of-lgmd2d-in-adulthood
#20
M C Walter, G Dekomien, B Schlotter-Weigel, P Reilich, D Pongratz, W Müller-Felber, J T Epplen, A Huebner, H Lochmüller
Several forms of recessive limb girdle muscular dystrophy (LGMD2C-F) are due to mutations in genes coding for sarcoglycans. Clinically, most sarcoglycanopathies present in childhood with skeletal muscle wasting and early loss of ambulation; respiratory insufficiency is rare. However, some cases of LGMD2D with a late onset and a milder course have been reported. In this study, two adult brothers, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory...
May 2004: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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