scholarly journals 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

Sleep Science ◽  
2014 ◽  
Vol 7 (2) ◽  
pp. 117-121 ◽  
Author(s):  
Ricardo Tera Akamine ◽  
Luís Fernando Grossklauss ◽  
Gustavo Antonio Moreira ◽  
Marcia Pradella-Hallinan ◽  
Marco Antônio Chiéia ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Myotonic Dystrophy ◽  
Invasive Mechanical Ventilation ◽  
Positive Pressure ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Central Apnea ◽  
Non Invasive

Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective

2018 ◽  
Vol 28 (2) ◽  
pp. 194 ◽  
Author(s):  
Ghilas Boussaid ◽  
Frédéric Lofaso ◽  
David Orlikowski ◽  
Dante Santos Brasil ◽  
Stéphane Bahrami ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Mechanical Ventilation ◽  
Myotonic Dystrophy ◽  
Invasive Mechanical Ventilation ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Non Invasive

scholarly journals Non-invasive monitoring of alternative splicing outcomes to identify candidate therapies for myotonic dystrophy type 1

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Ningyan Hu ◽  
Layal Antoury ◽  
Timothy M. Baran ◽  
Soumya Mitra ◽  
C. Frank Bennett ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Invasive Monitoring ◽  
Myotonic Dystrophy Type ◽  
Non Invasive

scholarly journals Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
A. Perfetti ◽  
S. Greco ◽  
R. Cardani ◽  
B. Fossati ◽  
G. Cuomo ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Small Groups ◽  
Unmet Need ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Non Invasive ◽  
Stringent Selection ◽  
Muscle Biopsies ◽  
Skeletal Muscle Strength

Abstract Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls. We confirmed that 8 miRNAs out of 12 were significantly deregulated in DM1 patients: miR-1, miR-27b, miR-133a, miR-133b, miR-206, miR-140-3p, miR-454 and miR-574. The levels of these miRNAs, alone or in combination, discriminated DM1 from controls significantly, and correlated with both skeletal muscle strength and creatine kinase values. Interestingly, miR-133b levels were significantly higher in DM1 female patients. Finally, the identified miRNAs were also deregulated in the plasma of a small group (n = 30) of DM2 patients. In conclusion, this study proposes that miRNAs might be useful as DM1 humoral biomarkers.

Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1

2019 ◽  
Vol 108 (8) ◽  
pp. 857-867 ◽  
Author(s):  
Lukas Chmielewski ◽  
Michael Bietenbeck ◽  
Alexandru Patrascu ◽  
Sabine Rösch ◽  
Udo Sechtem ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Non Invasive ◽  
Cardiac Abnormalities ◽  
The Relationship ◽  
Invasive Evaluation

Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort

2016 ◽  
Vol 26 (10) ◽  
pp. 666-674 ◽  
Author(s):  
Ghilas Boussaïd ◽  
Frédéric Lofaso ◽  
Dante Brasil Santos ◽  
Isabelle Vaugier ◽  
Sandra Pottier ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Prospective Cohort ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Invasive Ventilation ◽  
Non Invasive ◽  
Factors Influencing ◽  
Non Invasive Ventilation

SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

2018 ◽  
Vol 97 (1) ◽  
pp. 78-81
Author(s):  
E.A. Mamaeva ◽  
◽  
L.A. Fedorova ◽  
S.E. Voronovich ◽  
V.D. Nazarov ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy
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