Results 101 to 110 of about 26,572 (220)

Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1 [PDF]

, 1906
We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas.
Akamine, Ricardo Tera, Grossklauss, Luís Fernando, Moreira, Gustavo Antonio, Pradella-Hallinan, Marcia, Chiéia, Marco Antônio, Mesquita, Denis, Bulle Oliveira, Acary Souza, Tufik, Sergio   +7 more
core   +2 more sources

Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019

Orphanet Journal of Rare Diseases, 2022
Sarah J. Howe, David Lapidus, Michael Hull, Jason Yeaw, Tanya Stevenson, Jacinda B. Sampson   +5 more
doaj   +1 more source

Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network

Journal of Cardiovascular Development and Disease
Myotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-Cardiology Network-“Rete delle Neurocardiologie” (INCN-RNC) is a unique collaborative experience involving neurology units combined with cardio-arrhythmology units ...
Vincenzo Russo, Giovanni Antonini, Roberto Massa, Carlo Casali, Alfredo Mauriello, Anna Maria Martino, Roberto Marconi, Matteo Garibaldi, Pasquale Franciosa, Massimo Zecchin, Carlo Gaudio, Antonello D’Andrea, Stefano Strano   +12 more
doaj   +1 more source

Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy

Case Reports in Obstetrics and Gynecology, 2016
We describe two cases of endometrial cancer (EC) occurring in nulligravid twin sisters with myotonic dystrophy. Both tested negative for Lynch syndrome and both were treated with laparoscopic hysterectomy with bilateral salpingooophorectomy and adjuvant ...
Ezra Y. Koh, Paul J. M. van Kesteren
doaj   +1 more source

In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]

, 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H, Boërio, D, Hanna, MG, Tan, SV, Turner, C, Z'Graggen, WJ   +5 more
core  

Physiology of respiratory disturbances in muscular dystrophies [PDF]

, 2016
Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e.
Aliverti, Andrea, Lo Mauro, Maria Antonella   +1 more
core   +2 more sources

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

Cell Reports, 2017
Summary: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively.
Masayuki Nakamori, Kohei Hamanaka, James D. Thomas, Eric T. Wang, Yukiko K. Hayashi, Masanori P. Takahashi, Maurice S. Swanson, Ichizo Nishino, Hideki Mochizuki   +8 more
doaj   +1 more source

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks [PDF]

, 2016
Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring.
Abastado, Abeliovich, Acharya, Achiron, Alan E. Tomkinson, Amiel, Anderson, Arturo López Castel, Ashizawa, August B. Pearson, Axford, Aziz, Barnes, Brunner, Cami, Campbell, Carraway, Cereghini, Christopher E. Pearson, Chung, Clark, Cleary, Cleary, Cleary, Conley, Dean, Debrauwère, Dragileva, Du, Edelmann, Erdeniz, Erdile, Farrell, Fishel, Foiry, Freudenreich, Gagan B. Panigrahi, Genschel, Giordano, Goetz, Hashem, Haugen, Hay, Hou, Jackson, Jaworski, Kang, Kantartzis, Kleczkowska, Kovtun, Kow, Levin, Li, Lin, Liu, Lopez Castel, Lopez Castel, Lopez de Munain, Lu, Mackenney, Manley, Marcadier, Martorell, Masih, Mason, Matsumura, Meghan M. Slean, Miret, Miret, Nahhas, Nenguke, Norremolle, O'Hoy, Palombo, Panigrahi, Panigrahi, Panigrahi, Panigrahi, Parniewski, Pavlov, Pearson, Pearson, Petes, Prigent, Puymirat, Risinger, Romanova, Savouret, Savouret, Schmidt, Schneider, Schumacher, Schweitzer, Seriola, Sharp, Shelbourne, Slean, Srivatsan, Stillman, Stillman, Stillman, Tam, Tang, Tome, Tome, van den Broek, Vassilev, Westmoreland, Wheeler, Yang, Zhang   +110 more
core   +2 more sources

Congenital Myotonic Dystrophy

Pediatric Neurology Briefs, 1987
Ten infants with congenital myotonic dystrophy admitted to the Dept Pediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, 1982-86, were investigated by ultrasonography or CT brain scans between 1 day and 2 ...
J Gordon Millichap
doaj   +1 more source

The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy [PDF]

, 2018
Summary: Although many studies have been carried out to verify the involvement of the peripheral nervous system (PNS) in dystrophia myotonica (DM1) patients, the results remain controversial. The generation of DM1 transgenic mice displaying the human DM1
Barakat-Walter, I., Delaloye, S., Gantelet, E., Gourdon, G., Kraftsik, R., Kuntzer, T.   +5 more
core