Results 51 to 60 of about 114,439 (345)

Duchenne muscular dystrophy [PDF]

BMJ Case Reports, 2014
A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in a second-degree cousin and also had a history of delayed motor developmental milestones since birth ...
Vineet, Behera, Manas Kumar, Behera, Rajeev, Chauhan, Velu, Nair   +3 more
openaire   +2 more sources

Global longitudinal strain detects subtle left ventricular systolic dysfunction in Duchenne muscular dystrophy patients and carriers

The Egyptian Heart Journal, 2021
Background With the continuous improvement of the respiratory care of Duchenne muscular dystrophy patients, cardiac manifestations (heart failure and arrhythmias) become the leading causes of morbidity and mortality.
Mahmoud Shehta, Mona Mostafa Rayan, Nagia Aly Fahmy, Ahmed Onsy, Islam Bastawy   +4 more
doaj   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V, Bushby, K, Edge, G, Feng, L, Guglieri, M, Hunt, D, Kinali, M, Lehovsky, J, Main, M, Morgan, JE, Muntoni, F, Sewry, CA, Straub, V   +12 more
core   +1 more source

Early detection of left ventricular involvement in patients with Duchenne’s and Becker’s muscular dystrophy

Al-Azhar Assiut Medical Journal, 2019
Background Patients with Duchenne muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD) may have asymptomatic cardiac involvement for years before the development of dilated cardiomyopathy and even showed normal conventional echocardiographic ...
Shaimaa A Habib, Mohie El Din T Mohamed
doaj   +1 more source

"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic [PDF]

, 2018
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity
Aartsma-Rus, A., Bogdanik, L, Davies, K, De Luca, A, Demonbruen, Ar, Duan, D, Elsey, D, Fukada, Si, Girgenrath, M, Gonzalez, Jp, Gordish-Dressman, H, Grounds, Md, Heydemann, A, Kreibich, A, Lutz, C, Nagaraju, K, Nichols, A, Partridge, T, Passini, M, Pazze, Ld, Sanarica, F, Schnell, Fj, Spencer, M, Spurney, C, van Putten, M, Wells, Dj, Willmann, R, Yokota, T, Young, Cs, Zhong, Z   +29 more
core   +3 more sources

The quality of life in boys with Duchenne muscular dystrophy [PDF]

, 2016
We conducted a study to evaluate the quality of life in boys with Duchenne muscular dystrophy aged 8–18 years, compared with that in matched healthy controls. A total of 85 boys with Duchenne muscular dystrophy aged 8–18 years and 136 age, sex and living
Ashrafi, M.R., Azizi Malamiri, R., Fathi, M.R., Heidari, M., Hosseini, S.A., Mohammadi, M., Qorbani, M., Salehi, S., Shahrokhi, A., Shervin Badv, R., Zamani, G.   +10 more
core   +1 more source

Escherichia coli and Sudden Infant Death Syndrome

Frontiers in Immunology, 2015
This review examines the association of strains of Escherichia coli with Sudden Infant Death Syndrome (SIDS) and the possible role of these bacteria play in this enigmatic condition. The review addresses evidence for E.
Paul Nathan Goldwater, Karl Albert Bettelheim   +1 more
doaj   +1 more source

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

Neurology, 2020
Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping.
D. Frank, F. Schnell, Cody Akana, Saleh H. El-Husayni, C. Desjardins, J. Morgan, J. Charleston, V. Sardone, J. Domingos, G. Dickson, V. Straub, M. Guglieri, E. Mercuri, L. Servais, F. Muntoni   +14 more
semanticscholar   +1 more source

Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Children, 2021
Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed ...
Eun-Woo Park, Ye-Jee Shim, Jung-Sook Ha, Jin-Hong Shin, Soyoung Lee, Jang-Hyuk Cho   +5 more
doaj   +1 more source

Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans [PDF]

, 2017
The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various ...
A De Luca, A Rajagopal, A Soman, AA Biewener, AA Biewener, AC Ludolph, AEH Emery, AL Camp, AV Birn-Jeffery, BH Wokke, BJ Petrof, C Pastoret, C Webster, CM Consolino, CM Eng, DM Escolar, E Azizi, E Mok, EK Moo, EM Arnold, EM Arnold, EM Arnold, FA Jenkins, FE Zajac, GM Buyse, GT Carter, H Radley-Crabb, H Stedman, HB van der Worp, HM Hsieh-Li, IG Kirkinezos, J Manning, JA Granchelli, JA Vilensky, JH Veldink, JJ Kaczor, JK Mah, JN Kornegay, JN Kornegay, JP Charles, JP Charles, JR Chamberlain, JW Carnwath, JW McGreevy, KA Clarke, KN An, L Xu, LM Ittner, M Benatar, M Bodor, M Millard, MD Grounds, MD Klein Horsman, ME Gurney, ME Llewellyn, MP Kadaba, N Alexander, N Serradj, NP Whitehead, P DeVita, P Moens, P Sicinski, R Burdi, R Willmann, R Willmann, RH Miller, RW Burgess, SL Delp, SL Delp, SR Ward, SS Blemker, SV Brooks, T Akay, TA McMahon, TA Partridge, TS Buchanan, V Brussee, VC Henderson, X Chen, X Chen, X Hu, ZJ Domire   +81 more
core   +2 more sources