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Lung and muscular dystrophy

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https://www.readbyqxmd.com/read/29759639/uniparental-disomy-unveils-a-novel-recessive-mutation-in-pomt2
#1
Brianna N Brun, Tobias Willer, Benjamin W Darbro, Hernan D Gonorazky, Sergey Naumenko, James J Dowling, Kevin P Campbell, Steven A Moore, Katherine D Mathews
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N). We report a case of LGMD due to a novel mutation in POMT2 unmasked by uniparental isodisomy. The patient experienced proximal muscle weakness from three years of age with minimal progression. She developed progressive contractures and underwent unilateral Achilles tenotomy. By age 11, she had borderline low left ventricular ejection fraction and mild restrictive lung disease...
April 10, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29719811/unusual-long-survival-despite-severe-lung-disease-of-a-child-with-biallelic-loss-of-function-mutations-in-abca-3
#2
P El Boustany, R Epaud, C Grosse, F Barriere, E Grimont-Rolland, A Carsin, J C Dubus
Homozygous or compound heterozygous for frameshift or nonsense mutations in the ATP-binding cassette transporter A3 (ABCA3) is associated with neonatal respiratory failure and death within the first year of life without lung transplantation. We report the case of a newborn baby girl who developed severe respiratory distress soon after birth. She was diagnosed with compound heterozygous frameshift mutation of the ABCA3 gene. Despite extensive treatment (intravenous corticosteroids pulse therapy, oral corticosteroids, azithromycin, and hydroxychloroquine), she developed chronic respiratory failure...
2018: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/29696428/heart-rate-variability-and-cardiopulmonary-dysfunction-in-patients-with-duchenne-muscular-dystrophy-a-systematic-review
#3
REVIEW
Talita Dias da Silva, Thais Massetti, Tânia Brusque Crocetta, Carlos Bandeira de Mello Monteiro, Alex Carll, Luiz Carlos Marques Vanderlei, Carlie Arbaugh, Fernando Rocha Oliveira, Luiz Carlos de Abreu, Celso Ferreira Filho, John Godleski, Celso Ferreira
Duchenne muscular dystrophy (DMD) is a genetic recessive disorder with progressive muscle weakness. Despite the general muscle wasting, degeneration and necrosis of cardiomyocytes have been the main causes of morbidity and death in individuals with DMD. Cardiac failure is generally preceded by disturbances in heart rate variability (HRV), and non-invasive measurement of the autonomic nervous system has been an important tool to predict adverse cardiovascular events. Hence, the application of HRV to study autonomic modulation in DMD individuals, and the establishment of correlations between HRV and heart/lung diseases, age, and mortality will have the potential to improve quality of life and life expectancy of individuals with DMD...
April 25, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29689243/whole-exome-sequencing-identifies-unique-mutations-and-copy-number-losses-in-calcifying-fibrous-tumor-of-the-pleura-report-of-three-cases-and-review-of-the-literature
#4
Mitra Mehrad, William A LaFramboise, Maureen A Lyons, Humberto E Trejo Bittar, Samuel A Yousem
Calcifying fibrous tumor of the pleura (CFTP) is a rare mesenchymal tumor of unknown pathogenesis. The diagnosis often requires exclusion of other common entities. Our aim was to determine if genomic changes were associated with CFTP that could contribute to mechanisms underlying tumorigenesis. Three cases of CFTP with their corresponding uninvolved control lung tissue were identified. Two patients were male, and one was female (age range: 21-32years). Tumors were multifocal in two cases and solitary in one...
April 21, 2018: Human Pathology
https://www.readbyqxmd.com/read/29669172/the-cardiorespiratory-response-and-physiological-determinants-of-the-assisted-6-minute-handbike-cycle-test-in-adult-males-with-muscular-dystrophy
#5
Christopher I Morse, Emma L Bostock, Harriet M Twiss, Laura H Kapp, Paul Orme, Matthew F Jacques
INTRODUCTION: Assisted six-minute cycle test (A6MCT) distance was assessed in adults with muscular dystrophy (MD). METHODS: Forty-eight males, including Duchenne (DMD), limb-girdle (LGMD), fascioscapulohumeral (FSHD), Becker (BMD), and non-MD (CTRL), completed handgrip strength (HGS), lung function (FEV1, FVC), body fat and biceps thickness assessments. During the A6MCT, ventilation (VE), oxygen uptake (VO2 ), carbon dioxide (VCO2 ) and heart rate (HR) were recorded...
April 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29563946/cardiac-function-associated-with-home-ventilator-care-in-duchenne-muscular-dystrophy
#6
Sangheun Lee, Heeyoung Lee, Lucy Youngmin Eun, Seung Woong Gang
Purpose: Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify cardiopulmonary function, we compared cardiac function between the home ventilator-assisted and non-ventilator-assisted groups. Methods: We retrospectively reviewed patients with Duchenne muscular dystrophy from January 2010 to March 2016 at Gangnam Severance Hospital...
February 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29513135/mechanical-signaling-through-the-discoidin-domain-receptor-1-plays-a-central-role-in-tissue-fibrosis
#7
Nuno M Coelho, Christopher A McCulloch
The preservation of tissue and organ architecture and function depends on tightly regulated interactions of cells with the extracellular matrix (ECM). These interactions are maintained in a dynamic equilibrium that balances intracellular, myosin-generated tension with extracellular resistance conferred by the mechanical properties of the extracellular matrix. Disturbances of this equilibrium can lead to the development of fibrotic lesions that are associated with a wide repertoire of high prevalence diseases including obstructive cardiovascular diseases, muscular dystrophy and cancer...
March 26, 2018: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/29437939/evolution-of-respiratory-function-in-duchenne-muscular-dystrophy-from-childhood-to-adulthood
#8
Antonella LoMauro, Marianna Romei, Sandra Gandossini, Riccardo Pascuzzo, Simone Vantini, Maria Grazia D'Angelo, Andrea Aliverti
In Duchenne muscular dystrophy (DMD), it is still to be determined if specific timepoints can be identified during the natural evolution of respiratory dysfunction from childhood to adulthood and if scoliosis, steroid therapy and nocturnal noninvasive mechanical ventilation (NIMV) have any effect on it.In a 7-year retrospective study performed on 115 DMD patients (6-24 years), evaluated once or twice per year, with 574 visits in total, evolution mean curves of spirometry, lung volumes, spontaneous breathing and thoraco-abdominal pattern (measured by optoelectronic plethysmography) parameters were obtained by nonlinear regression model analysis...
February 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29434565/semi-automated-analysis-of-diaphragmatic-motion-with-dynamic-magnetic-resonance-imaging-in-healthy-controls-and-non-ambulant-subjects-with-duchenne-muscular-dystrophy
#9
Courtney A Bishop, Valeria Ricotti, Christopher D J Sinclair, Matthew R B Evans, Jordan W Butler, Jasper M Morrow, Michael G Hanna, Paul M Matthews, Tarek A Yousry, Francesco Muntoni, John S Thornton, Rexford D Newbould, Robert L Janiczek
Subjects with Duchenne Muscular Dystrophy (DMD) suffer from progressive muscle damage leading to diaphragmatic weakness that ultimately requires ventilation. Emerging treatments have generated interest in better characterizing the natural history of respiratory impairment in DMD and responses to therapy. Dynamic (cine) Magnetic Resonance Imaging (MRI) may provide a more sensitive measure of diaphragm function in DMD than the commonly used spirometry. This study presents an analysis pipeline for measuring parameters of diaphragmatic motion from dynamic MRI and its application to investigate MRI measures of respiratory function in both healthy controls and non-ambulant DMD boys...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29411170/the-potential-of-antisense-oligonucleotide-therapies-for-inherited-childhood-lung-diseases
#10
REVIEW
Kelly M Martinovich, Nicole C Shaw, Anthony Kicic, André Schultz, Sue Fletcher, Steve D Wilton, Stephen M Stick
Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design. Through targeting the pre-mRNA, antisense oligonucleotides can alter splicing and induce a specific spliceoform or disrupt the reading frame, target an RNA transcript for degradation through RNaseH activation, block ribosome initiation of protein translation or disrupt miRNA function...
February 6, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29278896/long-term-pulmonary-function-in-duchenne-muscular-dystrophy-comparison-of-eteplirsen-treated-patients-to-natural-history
#11
T Bernard Kinane, Oscar H Mayer, Petra W Duda, Linda P Lowes, Stephanie L Moody, Jerry R Mendell
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, X-linked genetic disease that results in progressive muscle loss and premature death, most commonly from respiratory or cardiac failure. DMD is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to skip exon 51, restore the reading frame, and induce production of internally shortened dystrophin in patients with mutations amenable to such treatment...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29226176/holistic-segmentation-of-the-lung-in-cine-mri
#12
William Kovacs, Nathan Hsieh, Holger Roth, Chioma Nnamdi-Emeratom, W Patricia Bandettini, Andrew Arai, Ami Mankodi, Ronald M Summers, Jianhua Yao
Duchenne muscular dystrophy (DMD) is a childhood-onset neuromuscular disease that results in the degeneration of muscle, starting in the extremities, before progressing to more vital areas, such as the lungs. Respiratory failure and pneumonia due to respiratory muscle weakness lead to hospitalization and early mortality. However, tracking the disease in this region can be difficult, as current methods are based on breathing tests and are incapable of distinguishing between muscle involvements. Cine MRI scans give insight into respiratory muscle movements, but the images suffer due to low spatial resolution and poor signal-to-noise ratio...
October 2017: Journal of Medical Imaging
https://www.readbyqxmd.com/read/29067653/clinical-manifestations-and-overall-management-strategies-for-duchenne-muscular-dystrophy
#13
Takeshi Tsuda
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive weakness and wasting of skeletal muscular and myocardium in boys due to mutation of dystrophin. The structural integrity of each individual skeletal and cardiac myocyte is significantly compromised upon physical stress due to the absence of dystrophin. The progressive destruction of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea, and cardiomyopathy...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28904987/respiratory-magnetic-resonance-imaging-biomarkers-in-duchenne-muscular-dystrophy
#14
Ami Mankodi, William Kovacs, Gina Norato, Nathan Hsieh, W Patricia Bandettini, Courtney A Bishop, Hirity Shimellis, Rexford D Newbould, Eunhee Kim, Kenneth H Fischbeck, Andrew E Arai, Jianhua Yao
OBJECTIVE: To examine the diaphragm and chest wall dynamics with cine breathing magnetic resonance imaging (MRI) in ambulatory boys with Duchenne muscular dystrophy (DMD) without respiratory symptoms and controls. METHODS: In 11 DMD boys and 15 controls, cine MRI of maximal breathing was recorded for 10 sec. The lung segmentations were done by an automated pipeline based on a Holistically-Nested Network model (HNN method). Lung areas, diaphragm, and chest wall motion were measured throughout the breathing cycle...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28770170/high-throughput-microplate-based-assay-to-monitor-plasma-membrane-wounding-and-repair
#15
Sarika Pathak-Sharma, Xiaoli Zhang, Jonathan G T Lam, Noah Weisleder, Stephanie M Seveau
The plasma membrane of mammalian cells is susceptible to disruption by mechanical and biochemical damages that frequently occur within tissues. Therefore, efficient and rapid repair of the plasma membrane is essential for maintaining cellular homeostasis and survival. Excessive damage of the plasma membrane and defects in its repair are associated with pathological conditions such as infections, muscular dystrophy, heart failure, diabetes, and lung and neurodegenerative diseases. The molecular events that remodel the plasma membrane during its repair remain poorly understood...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28690393/effect-on-lung-function-of-mounthpiece-ventilation-in-steinert-disease-a-case-report
#16
Anna Annunziata, Giuseppe Fiorentino, Antonio Esquinas
In patients with muscular dystrophies both muscle length tension relationship changes and muscle elasticity and plasticity are decreased, resulting in impaired inspiratory muscle function and decreased vital capacity. Furthermore, the loss of deep breathing further increases the risk of alveolar collapse, hypoventilation and atelectasias. In this case report, a stable improvement of vital capacity after treatment with mounthpiece ventilation (MPV), was observed, suggesting that not invasive ventilation (NIV) might help to maintai lung and chest wall compliance, prevent hypoventilation and atelectasias which in turn may slow down the development of the restrictive respiratory pattern...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#17
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28594857/noninvasive-assessment-of-respiratory-muscle-strength-and-activity-in-myotonic-dystrophy
#18
Morgana de Araújo Evangelista, Fernando Augusto Lavezzo Dias, Mário Emílio Teixeira Dourado Júnior, George Carlos do Nascimento, Antonio Sarmento, Lucien Peroni Gualdi, Andrea Aliverti, Vanessa Resqueti, Guilherme Augusto de Freitas Fregonezi
OBJECTIVE: To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects. DESIGN AND METHODS: Quasi-experimental observational study with control group. MRR of inspiratory muscles, lung function and amplitude of the electromyographic activity of SCM, SCA, 2ndIS and RA muscles during maximum inspiratory pressure (PImax), maximum expiratory pressure (PEmax) and sniff nasal inspiratory pressure (SNIP) tests were assessed in eighteen DM1 subjects and eleven healthy...
2017: PloS One
https://www.readbyqxmd.com/read/28453658/androgen-receptor-agonists-increase-lean-mass-improve-cardiopulmonary-functions-and-extend-survival-in-preclinical-models-of-duchenne-muscular-dystrophy
#19
Suriyan Ponnusamy, Ryan D Sullivan, Dahui You, Nadeem Zafar, Chuan He Yang, Thirumagal Thiyagarajan, Daniel L Johnson, Maron L Barrett, Nikki J Koehler, Mayra Star, Erin J Stephenson, Dave Bridges, Stephania A Cormier, Lawrence M Pfeffer, Ramesh Narayanan
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that predominantly affects boys as a result of mutation(s) in the dystrophin gene. DMD is characterized by musculoskeletal and cardiopulmonary complications, resulting in shorter life-span. Boys afflicted by DMD typically exhibit symptoms within 3-5 years of age and declining physical functions before attaining puberty. We hypothesized that rapidly deteriorating health of pre-pubertal boys with DMD could be due to diminished anabolic actions of androgens in muscle, and that intervention with an androgen receptor (AR) agonist will reverse musculoskeletal complications and extend survival...
July 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28451990/chest-wall-kinematics-using-triangular-cosserat-point-elements-in-healthy-and-neuromuscular-subjects
#20
Dana Solav, Henri Meric, M B Rubin, Didier Pradon, Frédéric Lofaso, Alon Wolf
Optoelectronic plethysmography (OEP) is a noninvasive method for assessing lung volume variations and the contributions of different anatomical compartments of the chest wall (CW) through measurements of the motion of markers attached to the CW surface. The present study proposes a new method for analyzing the local CW kinematics from OEP measurements based on the kinematics of triangular Cosserat point elements (TCPEs). 52 reflective markers were placed on the anterior CW to create a mesh of 78 triangles according to an anatomical model...
August 2017: Annals of Biomedical Engineering
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