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https://www.readbyqxmd.com/read/28430230/compact-multichannel-high-resolution-micro-electro-mechanical-systems-based-interrogator-for-fiber-bragg-grating-sensing
#1
D Ganziy, B Rose, O Bang
We propose a novel type of compact high-resolution multichannel micro-electro-mechanical systems (MEMS)-based interrogator, where we replace the linear detector with a digital micromirror device (DMD). The DMD is typically cheaper and has better pixel sampling than an InGaAs detector used in the 1550 nm range, which leads to cost reduction and better performance. Moreover, the DMD is a 2D array, which means that multichannel systems can be implemented without any additional optical components in the interrogator...
April 20, 2017: Applied Optics
https://www.readbyqxmd.com/read/28428530/-duchenne-muscle-dystrophy-caused-bronchial-obstruction
#2
Aki Fujiwara, Nozomu Iwashiro, Masanori Ohara
Duchenne muscle dystrophy (DMD), X-linked recessive genetic disorder, causes a variety of complications including scoliosis. We report a case of bronchial obstruction and hemorrhage caused by scoliosis with DMD. A man in his forties having been hospitalized due to DMD since the age of 6, produced bloody sputum. A chest X-ray showed atelectasis in his right lower lung. A computed tomography and bronchoscopy indicated that scoliosis and thoracic deformity due to muscle dystrophy caused compression of a right main bronchus by the vertebra, leading to bronchial obstruction and bleeding...
April 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28418733/feasibility-of-spect-ct-imaging-to-study-the-pharmacokinetics-of-antisense-oligonucleotides-in-a-mouse-model-of-duchenne-muscular-dystrophy
#3
Evita van de Steeg, Tilman Läppchen, Begoña Aguilera, Harm T Jansen, Daan Muilwijk, Rick Vermue, José W van der Hoorn, Katia Donato, Raffaella Rossin, Peter C de Visser, Maria L H Vlaming
Antisense oligonucleotides (AONs) are promising candidates for treatment of Duchenne muscular dystrophy (DMD), a severe and progressive disease resulting in premature death. However, more knowledge on the pharmacokinetics of new AON drug candidates is desired for effective application in the clinic. We assessed the feasibility of using noninvasive single-photon emission computed tomography-computed tomography (SPECT-CT) imaging to determine AON pharmacokinetics in vivo. To this end, a 2'-O-methyl phosphorothioate AON was radiolabeled with (123)I or (111)In, and administered to mdx mice, a rodent model of DMD...
April 18, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28416280/progress-toward-gene-therapy-for-duchenne-muscular-dystrophy
#4
REVIEW
Joel R Chamberlain, Jeffrey S Chamberlain
Duchenne muscular dystrophy (DMD) has been a major target for gene therapy development for nearly 30 years. DMD is among the most common genetic diseases, and isolation of the defective gene (DMD, or dystrophin) was a landmark discovery, as it was the first time a human disease gene had been cloned without knowledge of the protein product. Despite tremendous obstacles, including the enormous size of the gene and the large volume of muscle tissue in the human body, efforts to devise a treatment based on gene replacement have advanced steadily through the combined efforts of dozens of labs and patient advocacy groups...
April 14, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28413459/expression-levels-of-tgf-%C3%AE-1-and-ctgf-are-associated-with-the-severity-of-duchenne-muscular-dystrophy
#5
Yanmin Song, Shuai Yao, Yunhai Liu, Lili Long, Huan Yang, Qiuxiang Li, Jinghui Liang, Xinxin Li, Yuling Lu, Haoran Zhu, Ning Zhang
The present study aimed to analyze the association of transforming growth factor-β1 (TGF-β1) and connective tissue growth factor (CTGF) expression levels in skeletal muscle with the clinical manifestation of Duchenne muscular dystrophy (DMD). A total of 18 cases of DMD, which were confirmed by routine pathological diagnosis were recruited into the present study, along with 8 subjects who suffered from acute trauma but did not present any neuromuscular diseases and were enrolled as the healthy controls. Immunohistochemical staining was used to detect the expression levels of CTGF and TGF-β1 in muscle biopsy specimens...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28407826/-a-retrospective-analysis-of-6-children-with-duchenne-muscular-dystrophy
#6
Yu-Jie Yin, Yu-Ping Huang, Chao Lu, Xue-Ping Sun, Feng-Nan Niu, Rui Jin, Guo-Ping Zhou
OBJECTIVE: To analyze the clinical features of 6 children with Duchenne muscular dystrophy (DMD) and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease. METHODS: A retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015. RESULTS: All the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28398005/nanotherapy-for-duchenne-muscular-dystrophy
#7
REVIEW
Michael E Nance, Chady H Hakim, N Nora Yang, Dongsheng Duan
Duchenne muscular dystrophy (DMD) is a lethal X-linked childhood muscle wasting disease caused by mutations in the dystrophin gene. Nanobiotechnology-based therapies (such as synthetic nanoparticles and naturally existing viral and nonviral nanoparticles) hold great promise to replace and repair the mutated dystrophin gene and significantly change the disease course. While a majority of DMD nanotherapies are still in early preclinical development, several [such as adeno-associated virus (AAV)-mediated systemic micro-dystrophin gene therapy] are advancing for phase I clinical trials...
April 11, 2017: Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology
https://www.readbyqxmd.com/read/28397169/sleep-disordered-breathing-in-duchenne-muscular-dystrophy
#8
REVIEW
Antonella LoMauro, Maria Grazia D'Angelo, Andrea Aliverti
This review aims to explain the inevitable imbalance between respiratory load, drive, and muscular force that occurs in the natural aging of Duchenne muscular dystrophy and that predisposes these patients to sleep disordered breathing (SDB). In DMD, SDB is characterized by oxygen desaturation, apneas, hypercapnia, and hypoventilation during sleep and ultimately develops into respiratory failure during wakefulness. It can be present in all age groups. Young patients risk obstructive apneas because of weight gain, secondary to progressive physical inactivity and prolonged corticosteroid therapy; older patients hypoventilate and desaturate because of respiratory muscle weakness, in particular the diaphragm...
May 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28392227/assessing-mental-health-in-boys-with-duchenne-muscular-dystrophy-emotional-behavioural-and-neurodevelopmental-profile-in-an-italian-clinical-sample
#9
Paola Colombo, Maria Nobile, Alessandra Tesei, Federica Civati, Sandra Gandossini, Elisa Mani, Massimo Molteni, Nereo Bresolin, Grazia D'Angelo
OBJECTIVE: To evaluate through a comprehensive protocol, the psychopathological profile of DMD boys. The primary aim of this observational study was to describe the emotional and behavioural profile and the neurodevelopmental problems of Italian boys with Duchenne Muscular Dystrophy (DMD); the secondary aim was to explore the relation between psychopathological profile and DMD genotype. METHOD: 47 DMD boys, aged 2-18, were included in the study and assessed through structured and validated tools including Wechsler scales or Griffiths for cognitive ability, Child Behavior Check List (CBCL), Youth Self Report (YSR) and Strengths and Difficulties Questionnaire (SDQ) for emotional and behavioural features...
March 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28391962/su9516-increases-%C3%AE-7%C3%AE-1-integrin-and-ameliorates-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#10
Apurva Sarathy, Ryan D Wuebbles, Tatiana M Fontelonga, Ashley R Tarchione, Lesley A Mathews Griner, Dante J Heredia, Andreia M Nunes, Suzann Duan, Paul D Brewer, Tyler Van Ry, Grant W Hennig, Thomas W Gould, Andrés E Dulcey, Amy Wang, Xin Xu, Catherine Z Chen, Xin Hu, Wei Zheng, Noel Southall, Marc Ferrer, Juan Marugan, Dean J Burkin
Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by mutations in the dystrophin gene, resulting in a complete loss of the dystrophin protein. Dystrophin is a critical component of the dystrophin glycoprotein complex (DGC), which links laminin in the extracellular matrix to the actin cytoskeleton within myofibers and provides resistance to shear stresses during muscle activity. Loss of dystrophin in DMD patients results in a fragile sarcolemma prone to contraction-induced muscle damage. The α7β1 integrin is a laminin receptor protein complex in skeletal and cardiac muscle and a major modifier of disease progression in DMD...
April 5, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28391205/lmmo-a-large-margin-approach-for-refining-regulatory-motifs
#11
Lin Zhu, Hongbo Zhang, De-Shuang Huang
Although discriminative motif discovery (DMD) methods are promising for eliciting motifs from high-throughput experimental data, they usually have to sacrifice accuracy and may fail to fully leverage the potential of large datasets. Recently, it has been demonstrated that the motifs identified by DMDs can be significantly improved by maximizing the receiver-operating characteristic curve (AUC) metric, which has been widely used in the literature to rank the performance of elicited motifs. However, existing approaches for motif refinement choose to directly maximize the non-convex and discontinuous AUC itself, which is known to be difficult and may lead to suboptimal solutions...
April 5, 2017: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/28390761/the-aav-mediated-and-rna-guided-crispr-cas9-system-for-gene-therapy-of-dmd-and-bmd
#12
REVIEW
Jing-Zhang Wang, Peng Wu, Zhi-Min Shi, Yan-Li Xu, Zhi-Jun Liu
Mutations in the dystrophin gene (Dmd) result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which afflict many newborn boys. In 2016, Brain and Development published several interesting articles on DMD treatment with antisense oligonucleotide, kinase inhibitor, and prednisolone. Even more strikingly, three articles in the issue 6271 of Science in 2016 provide new insights into gene therapy of DMD and BMD via the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)...
April 5, 2017: Brain & Development
https://www.readbyqxmd.com/read/28390424/grmd-cardiac-and-skeletal-muscle-metabolism-gene-profiles-are-distinct
#13
Larry W Markham, Candice L Brinkmeyer-Langford, Jonathan H Soslow, Manisha Gupte, Douglas B Sawyer, Joe N Kornegay, Cristi L Galindo
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, which codes for the dystrophin protein. While progress has been made in defining the molecular basis and pathogenesis of DMD, major gaps remain in understanding mechanisms that contribute to the marked delay in cardiac compared to skeletal muscle dysfunction. METHODS: To address this question, we analyzed cardiac and skeletal muscle tissue microarrays from golden retriever muscular dystrophy (GRMD) dogs, a genetically and clinically homologous model for DMD...
April 8, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28381036/programmable-cgh-on-photochromic-plates-coded-with-dmd-generated-masks
#14
R Alata, G Pariani, F Zamkotsian, P Lanzoni, A Bianco, C Bertarelli
Computer Generated Holograms (CGHs) are used for wavefront shaping and complex optics testing. Present technology allows for recording binary CGHs. We propose a Digital Micro-mirror Device (DMD) as a reconfigurable mask, to record rewritable binary and grayscale CGHs on a photochromic plate. Opaque at rest, this plate becomes transparent when it is illuminated with visible light of suitable wavelength. We have successfully recorded the very first amplitude grayscale CGH, with a contrast greater than 50, which was reconstructed with a high fidelity in shape, intensity, size and location...
March 20, 2017: Optics Express
https://www.readbyqxmd.com/read/28373570/effects-of-systemic-multiexon-skipping-with-peptide-conjugated-morpholinos-in-the-heart-of-a-dog-model-of-duchenne-muscular-dystrophy
#15
Yusuke Echigoya, Akinori Nakamura, Tetsuya Nagata, Nobuyuki Urasawa, Kenji Rowel Q Lim, Nhu Trieu, Dharminder Panesar, Mutsuki Kuraoka, Hong M Moulton, Takashi Saito, Yoshitsugu Aoki, Patrick Iversen, Peter Sazani, Ryszard Kole, Rika Maruyama, Terry Partridge, Shin'ichi Takeda, Toshifumi Yokota
Duchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by an absence of the dystrophin protein in bodywide muscles, including the heart. Cardiomyopathy is a leading cause of death in DMD. Exon skipping via synthetic phosphorodiamidate morpholino oligomers (PMOs) represents one of the most promising therapeutic options, yet PMOs have shown very little efficacy in cardiac muscle. To increase therapeutic potency in cardiac muscle, we tested a next-generation morpholino: arginine-rich, cell-penetrating peptide-conjugated PMOs (PPMOs) in the canine X-linked muscular dystrophy in Japan (CXMDJ) dog model of DMD...
April 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28368033/a-targeted-illumination-optical-fiber-probe-for-high-resolution-fluorescence-imaging-and-optical-switching
#16
Anant Shinde, Sandeep Menon Perinchery, Vadakke Matham Murukeshan
An optical imaging probe with targeted multispectral and spatiotemporal illumination features has applications in many diagnostic biomedical studies. However, these systems are mostly adapted in conventional microscopes, limiting their use for in vitro applications. We present a variable resolution imaging probe using a digital micromirror device (DMD) with an achievable maximum lateral resolution of 2.7 μm and an axial resolution of 5.5 μm, along with precise shape selective targeted illumination ability...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28366322/sleep-pattern-and-spectral-analysis-of-caregiver-mothers-of-sons-with-duchenne-muscular-dystrophy-and-an-examination-of-differences-between-carriers-and-non-carriers
#17
Karen Tieme Nozoe, Lenise Jihe Kim, Daniel Ninello Polesel, Camila Hirotsu, Altay Lino de Souza, Helena Hachul, Sergio Brasil Tufik, Sergio Tufik, Monica Levy Andersen, Gustavo Antônio Moreira
OBJECTIVES: Sleep is essential for physical and mental well-being. However, poor sleep is a common complaint among caregivers. The aim of the present study was to determine sleep patterns of caregiver-mothers (CM group) of sons with Duchenne muscular dystrophy (DMD) and also to examine the differences between non-carriers and carriers of the gene related to DMD within the CM group. METHODS: Observational case-control study. PARTICIPANTS: The CM and control (CTRL) groups were matched for age, body mass index and social class...
April 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28364245/systemic-delivery-of-morpholinos-to-skip-multiple-exons-in-a-dog-model-of-duchenne-muscular-dystrophy
#18
Rika Maruyama, Yusuke Echigoya, Oana Caluseriu, Yoshitsugu Aoki, Shin'ichi Takeda, Toshifumi Yokota
Exon-skipping therapy is an emerging approach that uses synthetic DNA-like molecules called antisense oligonucleotides (AONs) to splice out frame-disrupting parts of mRNA, restore the reading frame, and produce truncated yet functional proteins. Multiple exon skipping utilizing a cocktail of AONs can theoretically treat 80-90% of patients with Duchenne muscular dystrophy (DMD). The success of multiple exon skipping by the systemic delivery of a cocktail of AONs called phosphorodiamidate morpholino oligomers (PMOs) in a DMD dog model has made a significant impact on the development of therapeutics for DMD, leading to clinical trials of PMO-based drugs...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28364229/invention-and-early-history-of-morpholinos-from-pipe-dream-to-practical-products
#19
James E Summerton
Beginning with my concept in 1969 to treat disease at the nucleic acid level using antisense nucleic acids, antisense has evolved to the current Morpholino oligos. Morpholinos have been the dominant gene knockdown system in developmental biology. Lack of delivery technologies has limited their use in adult animals (including humans), though alteration in muscles in Duchenne muscular dystrophy (DMD) allows delivery into adult muscle. Morpholinos are currently in Phase 3 clinical trials for DMD and a Morpholino oligo for skipping dystrophin exon 51 has been approved by the US FDA...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28362789/digital-micromirror-device-based-common-path-quantitative-phase-imaging
#20
Cheng Zheng, Renjie Zhou, Cuifang Kuang, Guangyuan Zhao, Zahid Yaqoob, Peter T C So
We propose a novel common-path quantitative phase imaging (QPI) method based on a digital micromirror device (DMD). The DMD is placed in a plane conjugate to the objective back-aperture plane for the purpose of generating two plane waves that illuminate the sample. A pinhole is used in the detection arm to filter one of the beams after sample to create a reference beam. Additionally, a transmission-type liquid crystal device, placed at the objective back-aperture plane, eliminates the specular reflection noise arising from all the "off" state DMD micromirrors, which is common in all DMD-based illuminations...
April 1, 2017: Optics Letters
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