Results 71 to 80 of about 148,459 (298)

Anaesthetic Management of Spinal Muscular Atrophy For Laparoscopic Cholecystectomy [PDF]

The Indian Anaesthetists' Forum, 2006
We report the anaesthetic management of a female patient with Spinal Muscular Atrophy (SMA) presented for laparoscopic cholecystectomy. In order to avoid prolonged recovery; we chose to use total intravenous anaesthesia (TIVA) with propofol and ...
Dr. E. Argyra / Dr. C. Staikou / Dr. G. Polymeneas / Dr. C. M. Markatou
doaj  

Castration‐resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy

IJU Case Reports, 2022
Introduction We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X‐linked recessive, lower motor neuron disease.
Atsuhi Yanase, Toru Sugihara, Takahiro Akimoto, Hirotaka Yokoyama, Jun Kamei, Akira Fujisaki, Satoshi Ando, Tameto Naoi, Mitsuya Morita, Tetsuya Fujimura   +9 more
doaj   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy

Neurotherapeutics
Spinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy.
Megan A. Waldrop
doaj   +1 more source

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy [PDF]

, 2009
Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively.
Baas, Dominique, Bauché, Stéphanie, Bigard, Xavier, Conjard-Duplany, Agnès, Corneloup, Claudine, Defour, Aurélia, Ferrier, Bernard, Ferry, Arnaud, Freyssenet, Damien, Gangloff, Yann-Gaël, Hantaï, Daniel, Koulmann, Nathalie, Kozma, Sara C., Le-Marchand-Brustel, Yannick, Mazelin, Laetitia, Moncollin, Vincent, Mueller, Matthias, Pende, Mario, Richard-Bulteau, Hélène, Risson, Valérie, Roceri, Mila, Romanino, Klaas, Rüegg, Markus A., Sanchez, Hervé, Schaeffer, Laurent, Tanti, Jean-François, Thomas, George, Vignaud, Alban   +27 more
core   +5 more sources

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Peroneal Muscular Atrophy

Eurasian Journal of Medicine, 2019
-
Kamil Tanyeri, Şanver Ercan
doaj  

Transcriptome analysis of muscle atrophy in Leizhou black goats: identification of key genes and insights into limb-girdle muscular dystrophy

BMC Genomics
Background The Leizhou Black Goat (LZBG), a prominent breed in tropical China’s meat goat industry, frequently exhibits inherent muscle atrophy and malnutrition-related traits.
Ke Wang, Mengning Xu, Xiaotao Han, Hu Liu, Jiancheng Han, Wei Sun, Hanlin Zhou   +6 more
doaj   +1 more source