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Lung and muscular dystrophy

Antonella Lo Mauro, Andrea Aliverti
: Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e. when the respiratory system fails in its gas exchange functions, is a common feature in muscular dystrophy, being the main cause of death, and it is a consequence of lung failure, pump failure or a combination of the two. The former is due to recurrent aspiration, the latter to progressive weakness of respiratory muscles and an increase in the load against which they must contract...
December 2016: Breathe
Sepide Miraj, Samira Alesaeidi, Sara Kiani
BACKGROUND: Temperament refers to four different humors differentiating in individuals and, as a result, proposes specific therapy for diseases as well as special types of management (avoidance). OBJECTIVE: The aim of this study was to overview the relationship between dystemprament and treatment and management of diseases. METHODS: A computerized search of published articles was performed using PubMed, Scopus, Web of Science, and Medline databases as well as local sources from 1965 to 2016...
December 2016: Electronic Physician
Liang Wang, Yongyong Xi, Chengcao Sun, Feng Zhang, Heng Jiang, Qiqiang He, Dejia Li
MiR-150, a member of small non-coding RNAs, has been proven to dysregulate in different types of tumor and bear on carcinogenesis and cancer prognosis by regulating the expression of a series of gene including utrophin. Given that utrophin can compensate for dystrophin's absence and be regarded as a promising therapeutic target for Duchenne Muscular Dystrophy (DMD), we further detected the deep role of miR-150 in dystrophic muscle. Using a range of bioinformatic, molecular and cell biology techniques, we declared that miR-150 directly targets cyclin-dependent kinase 3 (CDK3) and leads to the regulation of CDK3 gene expression in both muscle-derived and non-muscle cells...
January 17, 2017: Experimental and Molecular Pathology
Dante Brasil Santos, Isabelle Vaugier, Ghilas Boussaïd, David Orlikowski, Hélène Prigent, Frédéric Lofaso
BACKGROUND: Duchenne muscular dystrophy (DMD) is a sex-linked genetic disorder in which progressive impairment of skeletal muscle function eventually leads to severe respiratory failure requiring continuous noninvasive ventilation (NIV) at home. A current focus of debate is whether NIV may slow the decline in respiratory function or, on the contrary, worsen respiratory function when started early. Our objective here was to describe the effects of NIV on vital capacity (VC) and maximum respiratory pressures in DMD...
November 2016: Respiratory Care
Adam Ogna, Julie Nardi, Helene Prigent, Maria-Antonia Quera Salva, Cendrine Chaffaut, Laure Lamothe, Sylvie Chevret, Djillali Annane, David Orlikowski, Frederic Lofaso
BACKGROUND: Restrictive respiratory failure is a major cause of morbidity and mortality in neuromuscular diseases (NMD). Home mechanical ventilation (HMV) is used to treat hypoventilation, and its efficiency is mostly assessed by daytime blood gases or nocturnal oxygen saturation monitoring (SpO2). Non-invasive transcutaneous measure of CO2 (TcCO2) allows to directly assess nocturnal hypercapnia and to detect residual hypoventilation with a higher sensitivity than SpO2. We aimed to compare the prognostic value of nocturnal SpO2 and TcCO2 in ventilated adult NMD patients...
2016: Frontiers in Medicine
Michael Chiou, John R Bach, Lavina Jethani, Michael F Gallagher
OBJECTIVE: To consider the effect of active lung volume recruitment ("air stacking") on rate of decline in vital capacity. DESIGN: Retrospective cross-sectional design. PATIENTS: People with Duchenne muscular dystrophy. METHODS: Vital capacity was measured at every patient visit and then graphed. Air stacking using volume-preset ventilation or manual resuscitator bag was introduced to all patients after their vital capacity plateaued (reached a lifetime maximum)...
January 19, 2017: Journal of Rehabilitation Medicine
Praneet Wander, Adedapo Iluyomade, Paul Sanmartin, Akriti Gupta, Mary O'Sullivan
Myotonic dystrophy is a group of inherited disorders called muscular dystrophies. Clinical presentation of this disease is characterised by progressive muscle weakness with myotonia, cataracts, infertility (in males) and cardiac conduction defects. We present a case of a 35 year old male with lung abscess, later diagnosed to be a case of myotonic dystrophy. Lung abscess is an uncommon presentation of this disease and has never been reported before.
2016: Respiratory Medicine Case Reports
Yuko Iwata, Nobuyuki Suzuki, Hitomi Ohtake, Shinya Kamauchi, Naohiro Hashimoto, Tohru Kiyono, Shigeo Wakabayashi
BACKGROUND: Muscle wasting during cancer cachexia contributes to patient morbidity. Cachexia-induced muscle damage may be understood by comparing its symptoms with those of other skeletal muscle diseases, but currently available data are limited. METHODS: We modelled cancer cachexia in mice bearing Lewis lung carcinoma/colon adenocarcinoma and compared the associated muscle damage with that in a murine muscular dystrophy model (mdx mice). We measured biochemical and immunochemical parameters: amounts/localization of cytoskeletal proteins and/or Ca(2+) signalling proteins related to muscle function and abnormality...
June 2016: Journal of Cachexia, Sarcopenia and Muscle
Fuchen Liu, Zonglai Liang, Jingwen Xu, Wei Li, Dandan Zhao, Yuying Zhao, Chuanzhu Yan
BACKGROUND AND PURPOSE: The wnt/β-catenin signaling pathway plays a critical role in embryonic development and adult-tissue homeostasis. Recent investigations implicate the importance of wnt/β-catenin signaling in normal wound healing and its sustained activation being associated with fibrogenesis. We investigated the immunolocalization and activation of wnt/β-catenin in polymyositis (PM), dermatomyositis (DM), and Duchenne muscular dystrophy (DMD). METHODS: Immunofluorescence staining and Western blot analysis of β-catenin were performed in muscle specimens from 6 PM, 8 DM, and 6 DMD subjects...
July 2016: Journal of Clinical Neurology
Rulin Sun, Santao Zhang, Wenjun Hu, Xing Lu, Ning Lou, Zhende Yang, Shaoyong Chen, Xiaoping Zhang, Hongmei Yang
Muscle wasting is the hallmark of cancer cachexia and is associated with poor quality of life and increased mortality. Valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, has important biological effects in the treatment of muscular dystrophy. To verify whether VPA could ameliorate muscle wasting induced by cancer cachexia, we explored the role of VPA in two cancer cachectic mouse models [induced by colon-26 (C26) adenocarcinoma or Lewis lung carcinoma (LLC)] and atrophied C2C12 myotubes [induced by C26 cell conditioned medium (CCM) or LLC cell conditioned medium (LCM)]...
July 1, 2016: American Journal of Physiology. Cell Physiology
David Leverenz, Oana Zaha, Leslie J Crofford, Cecilia P Chung
Patients with severely elevated creatine kinase (CK) concentrations are commonly referred to rheumatologists to evaluate for the presence of an idiopathic inflammatory myopathy (IIM). However, no studies have evaluated the frequency with which IIMs are encountered in this clinical scenario. The Vanderbilt Synthetic Derivative, a de-identified copy of over 2 million patient records, was searched to identify adult patients with a CK greater than 1000 IU/L who had been evaluated by a rheumatologist. Each patient was assigned a diagnosis using a pre-determined algorithm...
June 2016: Clinical Rheumatology
O Göhl, D J Walker, S Walterspacher, D Langer, C M Spengler, T Wanke, M Petrovic, R-H Zwick, S Stieglitz, R Glöckl, D Dellweg, H-J Kabitz
Specific respiratory muscle training (IMT) improves the function of the inspiratory muscles. According to literature and clinical experience, there are 3 established methods: 1.) resistive load 2.) threshold load and 3.) normocapnic hyperpnea. Each training method and the associated devices have specific characteristics. Setting up an IMT should start with specific diagnostics of respiratory muscle function and be followed by detailed individual introduction to training. The aim of this review is to take a closer look at the different training methods for the most relevant indications and to discuss these results in the context of current literature...
January 2016: Pneumologie
Bente R Jensen, Martin P Berthelsen, Edith Husu, Sofie B Christensen, Kira P Prahm, John Vissing
INTRODUCTION: We studied the functional effects of combined strength and aerobic anti-gravity training in severely affected patients with Becker and Limb-Girdle muscular dystrophies. METHODS: Eight patients performed 10-week progressive combined strength (squats, calf raises, lunges) and aerobic (walk/run, jogging in place or high knee-lift) training 3 times/week in a lower-body positive pressure environment. Closed-kinetic-chain leg muscle strength, isometric knee strength, rate of force development (RFD), and reaction time were evaluated...
August 2016: Muscle & Nerve
Simona Zanotti, Cinzia Bragato, Andrea Zucchella, Lorenzo Maggi, Renato Mantegazza, Lucia Morandi, Marina Mora
AIMS: Tissue fibrosis, characterized by excessive deposition of extracellular matrix proteins, is the end point of diseases affecting the kidney, bladder, liver, lung, gut, skin, heart and muscle. In Duchenne muscular dystrophy (DMD), connective fibrotic tissue progressively substitutes muscle fibers. So far no specific pharmacological treatment is available for muscle fibrosis. Among promising anti-fibrotic molecules, pirfenidone has shown anti-fibrotic and anti-inflammatory activity in animal and cell models, and has already been employed in clinical trials...
January 15, 2016: Life Sciences
Kenon Chua, Chin Yik Tan, Zhaojin Chen, Hee Kit Wong, Eng Hin Lee, Stacy K H Tay, Hian Tat Ong, Daniel Y T Goh, James H P Hui
BACKGROUND: Spine surgery for neuromuscular scoliosis in patients with Duchenne's Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) remained controversial. This study aimed to review the long-term results of spine surgery and its effect on pulmonary function in these patients. METHODS: A retrospective review was conducted for the above patients who had undergone surgery from 1990 to 2006 in a tertiary hospital. Their yearly lung function tests, clinical records, and x-ray films before and after surgery were reviewed...
January 2016: Journal of Pediatric Orthopedics
Sherri L Katz, Nicholas Barrowman, Andrea Monsour, Santana Su, Lynda Hoey, Douglas McKim
RATIONALE: Lung volume recruitment therapy slows rate of decline of lung function in neuromuscular disease, possibly due to enhanced airway clearance, reduced atelectasis, or prevention of chest wall contractures. OBJECTIVES: To determine if lung volume recruitment maintains maximal insufflation capacity (MIC), despite decline in VC. METHODS: This was a retrospective cohort study (1991-2008) of individuals with Duchenne muscular dystrophy at pediatric and adult tertiary centers...
February 2016: Annals of the American Thoracic Society
Antonella LoMauro, Maria Grazia D'Angelo, Andrea Aliverti
Duchenne muscular dystrophy (DMD) is an X-linked myopathy resulting in progressive weakness and wasting of all the striated muscles including the respiratory muscles. The consequences are loss of ambulation before teen ages, cardiac involvement and breathing difficulties, the main cause of death. A cure for DMD is not currently available. In the last decades the survival of patients with DMD has improved because the natural history of the disease can be changed thanks to a more comprehensive therapeutic approach...
2015: Therapeutics and Clinical Risk Management
Florian Stehling, Christian Dohna-Schwake, Uwe Mellies, Jörg Große-Onnebrink
BACKGROUND: Advanced stages of Duchenne muscular dystrophy (DMD) result in severe lung volume decline and are associated with high respiratory morbidity and mortality. The aim of this study was to investigate whether lung volume decline in subjects with DMD is associated with ventilation inhomogeneity measured with the multiple-breath washout technique. METHODS: This cross-sectional study of lung function included 45 subjects with DMD and 16 healthy controls using multiple-breath washout, spirometry, and cough peak flow...
September 2015: Respiratory Care
Atsushi Nishida, Maki Minegishi, Atsuko Takeuchi, Emma Tabe Eko Niba, Hiroyuki Awano, Tomoko Lee, Kazumoto Iijima, Yasuhiro Takeshima, Masafumi Matsuo
The dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), comprises 79 exons that show multiple alternative splicing events. Intron retention, a type of alternative splicing, may control gene expression. We examined intron retention in dystrophin introns by reverse-transcription PCR from skeletal muscle, focusing on the nine shortest (all <1000 bp), because these are more likely to be retained. Only one, intron 40, was retained in mRNA; sequencing revealed insertion of a complete intron 40 (851 nt) between exons 40 and 41...
June 2015: Journal of Human Genetics
O H Mayer, R S Finkel, C Rummey, M J Benton, A M Glanzman, J Flickinger, B-M Lindström, T Meier
Decline in pulmonary function in Duchenne Muscular Dystrophy (DMD) contributes to significant morbidity and reduced longevity. Spirometry is a widely used and fairly easily performed technique to assess lung function, and in particular lung volume; however, the acceptability criteria from the American Thoracic Society (ATS) may be overly restrictive and inappropriate for patients with neuromuscular disease. We examined prospective spirometry data (Forced Vital Capacity [FVC] and peak expiratory flow [PEF]) from 60 DMD patients enrolled in a natural history cohort study (median age 10...
May 2015: Pediatric Pulmonology
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