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Sample records for muscular dystrophy-associated respiratory

  1. Case of early pelviolumeral progressive muscular dystrophy associated with marked heart affection

    International Nuclear Information System (INIS)

    Gor'kova, N.B.; Starykh, L.M.; Karpova, L.E.

    1991-01-01

    A case of early pelviolumeral progressive muscular dystrophy detected in childhood and associated with marked heart affection is described. Patient underwent multimodality examination, including ECG, ultrasonography, roentgenography. It is shown that patients with progressive muscular dystrophy should receive medical supervision and treatment of both neuropathologist and therapist

  2. Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy.

    Science.gov (United States)

    Parvatiyar, Michelle S; Marshall, Jamie L; Nguyen, Reginald T; Jordan, Maria C; Richardson, Vanitra A; Roos, Kenneth P; Crosbie-Watson, Rachelle H

    2015-12-23

    Duchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular dystrophy skeletal muscle degeneration by activating compensatory pathways that regulate muscle cell adhesion (laminin-binding) to the extracellular matrix. Conversely, loss of SSPN destabilized skeletal muscle adhesion, hampered muscle regeneration, and reduced force properties. Given the importance of SSPN to skeletal muscle, we investigated the consequences of SSPN ablation in cardiac muscle and determined whether overexpression of SSPN into mdx mice ameliorates cardiac disease symptoms associated with Duchenne muscular dystrophy cardiomyopathy. SSPN-null mice exhibited cardiac enlargement, exacerbated cardiomyocyte hypertrophy, and increased fibrosis in response to β-adrenergic challenge (isoproterenol; 0.8 mg/day per 2 weeks). Biochemical analysis of SSPN-null cardiac muscle revealed reduced sarcolemma localization of many proteins with a known role in cardiomyopathy pathogenesis: dystrophin, the sarcoglycans (α-, δ-, and γ-subunits), and β1D integrin. Transgenic overexpression of SSPN in Duchenne muscular dystrophy mice (mdx(TG)) improved cardiomyofiber cell adhesion, sarcolemma integrity, cardiac functional parameters, as well as increased expression of compensatory transmembrane proteins that mediate attachment to the extracellular matrix. SSPN regulates sarcolemmal expression of laminin-binding complexes that are critical to cardiac muscle function and protects against transient and chronic injury, including inherited cardiomyopathy. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  3. The muscular dystrophies associated with central nervous system lesions: a brief review from a standpoint of the localization and function of causative genes.

    Science.gov (United States)

    Yamamoto, Tomoko; Hiroi, Atsuko; Osawa, Makiko; Shibata, Noriyuki

    2014-01-01

    The muscular dystrophies have been traditionally classified based mainly on clinical manifestation and mode of inheritance. Owing to the discoveries of causative genes, new terminologies derived from each gene, such as dystrophinopathy, α-dystroglycanopathy, sarcoglycanopathy and fukutinopathy, have also become common. Mutations of each gene may cause several clinical phenotypes. Some muscular dystrophies accompany central nervous system (CNS) lesions, especially in the congenital muscular dystrophies. Cobblestone lissencephaly (type II lissencephaly) is a well-known CNS malformation observed in severe forms of α-dystroglycanopathy. Moreover, CNS involvement has been reported in other muscular dystrophies, such as Duchenne muscular dystrophy. In this review, genes related to the muscular dystrophies associated with CNS lesions are briefly described along with the molecular characteristics of each gene and the pathomechanism of the CNS lesions. Understanding of both the clinicopathological characteristics of these CNS lesions and their molecular mechanisms is important for the diagnosis, care of patients, and development of new therapeutic strategies.

  4. Systemic Inflammation in Duchenne Muscular Dystrophy: Association with Muscle Function and Nutritional Status

    OpenAIRE

    Oriana del Rocío Cruz-Guzmán; Maricela Rodríguez-Cruz; Rosa Elena Escobar Cedillo

    2015-01-01

    Inflammation described in patients with Duchenne muscular dystrophy (DMD) may be related to loss of muscle function or to obesity. It is unknown if circulating proinflammatory cytokines (IL-6, IL-1, and TNF-α) levels are associated with muscle function. The purpose was to evaluate whether an association exists between systemic inflammation with muscle function and nutritional status in DMD patients. In 66 DMD patients without corticosteroid treatment, the following were evaluated in serum: cy...

  5. Characterization of Patients with Amyotrophic Lateral Sclerosis attending the Muscular Dystrophy Association-Supported Clinics in Puerto Rico.

    Science.gov (United States)

    Deliz, Brenda; Ramos, Kathya; Pérez, Cynthia M

    2018-03-01

    To evaluate the sociodemographic characteristics and clinical and functional profile of amyotrophic lateral sclerosis (ALS) patients evaluated at Puerto Rico's Muscular Dystrophy Association-supported (MDA) clinics. A retrospective review of 76 medical records of ALS patients evaluated at any of four MDA-sponsored clinics in Puerto Rico. The mean age of diagnosis was 57.4 ± 11.1 yrs. Most of the patients (52.3%) were women. The majority of the cases were sporadic (48.7%). Over 40% of the patients were diagnosed at one year or earlier. Patients with initial upper extremity involvement (63.2%) were diagnosed earlier (≤ 6 months) than any of the others. The most common presentation of the disease overall was lower extremity weakness (34.2%), which was followed by a bulbar presentation (31.6%). There was a marked difference between men and women in disease presentation, with bulbar involvement in 75% of the women. This study characterized a sample of ALS patients in Puerto Rico who are receiving services at the MDA-sponsored clinics. Puerto Rican patients have similarities with published data from the United States and other countries, including: sporadic pattern, initial symptoms in extremities, and time to diagnosis. Major differences are that the disease was more common in women than in men and that a higher than expected percentage of patients presented with bulbar onset. This may partly account for the overall predominance of the disease in women over men as found in our study, since the bulbar presentation has been reported to be more common in women. Studies with a greater number of patients are needed to determine whether our findings are reproducible. This study will serve as a basis for designing future analytic studies regarding etiology or the factors that might modulate disease progression.

  6. Respiratory function in facioscapulohumeral muscular dystrophy 1

    NARCIS (Netherlands)

    Wohlgemuth, M.; Horlings, G.C.; Kooi, E.L. van der; Gilhuis, H.J.; Hendriks, J.C.M.; Maarel, S.M. van der; Engelen, B.G.M. van; Heijdra, Y.F.; Padberg, G.W.A.M.

    2017-01-01

    To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory

  7. A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

    Science.gov (United States)

    Banihani, Rudaina; Baskin, Berivan; Halliday, William; Kobayashi, Jeff; Kawamura, Anne; McAdam, Laura; Ray, Peter N; Yoon, Grace

    2016-04-01

    Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy. The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ A mutation in DMD. Dystrophinopathy may be associated with predominantly cognitive impairment and neurobehavioral disorder, and should be considered in the differential diagnosis of unexplained cognitive or psychiatric disturbance in males.

  8. Respiratory muscle training in Duchenne muscular dystrophy.

    OpenAIRE

    Rodillo, E; Noble-Jamieson, C M; Aber, V; Heckmatt, J Z; Muntoni, F; Dubowitz, V

    1989-01-01

    Twenty two boys with Duchenne muscular dystrophy were entered into a randomised double blind crossover trial to compare respiratory muscle training with a Triflow II inspirometer and 'placebo' training with a mini peak flow meter. Supine posture was associated with significantly impaired lung function, but respiratory muscle training showed no benefit.

  9. Respiratory muscle decline in Duchenne muscular dystrophy.

    Science.gov (United States)

    Khirani, Sonia; Ramirez, Adriana; Aubertin, Guillaume; Boulé, Michèle; Chemouny, Chrystelle; Forin, Véronique; Fauroux, Brigitte

    2014-05-01

    Duchenne muscular dystrophy (DMD) causes progressive respiratory muscle weakness. The aim of the study was to analyze the trend of a large number of respiratory parameters to gain further information on the course of the disease. Retrospective study. 48 boys with DMD, age range between 6 and 19 year old, who were followed in our multidisciplinary neuromuscular clinic between 2001 and 2011. Lung function, blood gases, respiratory mechanics, and muscle strength were measured during routine follow-up over a 10-year period. Only data from patients with at least two measurements were retained. The data of 28 patients were considered for analysis. Four parameters showed an important decline with age. Gastric pressure during cough (Pgas cough) was below normal in all patients with a mean decline of 5.7 ± 3.8 cmH2 O/year. Sniff nasal inspiratory pressure (SNIP) tended to increase first followed by a rapid decline (mean decrease 4.8 ± 4.9 cmH2 O; 5.2 ± 4.4% predicted/year). Absolute forced vital capacity (FVC) values peaked around the age of 13-14 years and remained mainly over 1 L but predicted values showed a mean 4.1 ± 4.4% decline/year. Diaphragmatic tension-time index (TTdi) increased above normal values after the age of 14 years with a mean increase of 0.04 ± 0.04 point/year. This study confirms the previous findings that FVC and SNIP are among the most important parameters to monitor the evolution of DMD. Expiratory muscle strength, assessed by Pgas cough, and the endurance index, TTdi, which are reported for the first time in a large cohort, appeared to be informative too, even though measured through an invasive method. © 2013 Wiley Periodicals, Inc.

  10. Unusual Respiratory Manifestations in Two Young Adults with Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Julie Lemay

    2012-01-01

    Full Text Available Adult respirologists are often involved in the evaluation and treatment of young adult patients with Duchenne muscular dystrophy. In this context, the most frequent respiratory complication is nocturnal and daytime hypoventilation related to respiratory muscle weakness. The present article describes cases of Duchenne muscular dystrophy involving two brothers, 17 and 19 years of age, respectively, who presented with less frequently reported respiratory complications of their disease: obstructive sleep apnea and Cheyne-Stokes respiration with central apnea, which were believed to be partially or completely related to congestive cardiomyopathy.

  11. Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress

    Directory of Open Access Journals (Sweden)

    Silvia Angori

    2017-05-01

    Full Text Available Background: Ankrd2 is a stress responsive protein mainly expressed in muscle cells. Upon the application of oxidative stress, Ankrd2 translocates into the nucleus where it regulates the activity of genes involved in cellular response to stress. Emery-Dreifuss Muscular Dystrophy 2 (EDMD2 is a muscular disorder caused by mutations of the gene encoding lamin A, LMNA. As well as many phenotypic abnormalities, EDMD2 muscle cells also feature a permanent basal stress state, the underlying molecular mechanisms of which are currently unclear. Methods: Experiments were performed in EDMD2-lamin A overexpressing cell lines and EDMD2-affected human myotubes. Oxidative stress was produced by H2O2 treatment. Co-immunoprecipitation, cellular subfractionation and immunofluorescence analysis were used to validate the relation between Ankrd2 and forms of lamin A; cellular sensibility to stress was monitored by the analysis of Reactive Oxygen Species (ROS release and cell viability. Results: Our data demonstrate that oxidative stress induces the formation of a complex between Ankrd2 and lamin A. However, EDMD2-lamin A mutants were able to bind and mislocalize Ankrd2 in the nucleus even under basal conditions. Nonetheless, cells co-expressing Ankrd2 and EDMD2-lamin A mutants were more sensitive to oxidative stress than the Ankrd2-wild type lamin A counterpart. Conclusions: For the first time, we present evidence that in muscle fibers from patients affected by EDMD2, Ankrd2 has an unusual nuclear localization. By introducing a plausible mechanism ruling this accumulation, our data hint at a novel function of Ankrd2 in the pathogenesis of EDMD2-affected cells.

  12. Diaphragm remodeling and compensatory respiratory mechanics in a canine model of Duchenne muscular dystrophy.

    Science.gov (United States)

    Mead, A F; Petrov, M; Malik, A S; Mitchell, M A; Childers, M K; Bogan, J R; Seidner, G; Kornegay, J N; Stedman, H H

    2014-04-01

    Ventilatory insufficiency remains the leading cause of death and late stage morbidity in Duchenne muscular dystrophy (DMD). To address critical gaps in our knowledge of the pathobiology of respiratory functional decline, we used an integrative approach to study respiratory mechanics in a translational model of DMD. In studies of individual dogs with the Golden Retriever muscular dystrophy (GRMD) mutation, we found evidence of rapidly progressive loss of ventilatory capacity in association with dramatic morphometric remodeling of the diaphragm. Within the first year of life, the mechanics of breathing at rest, and especially during pharmacological stimulation of respiratory control pathways in the carotid bodies, shift such that the primary role of the diaphragm becomes the passive elastic storage of energy transferred from abdominal wall muscles, thereby permitting the expiratory musculature to share in the generation of inspiratory pressure and flow. In the diaphragm, this physiological shift is associated with the loss of sarcomeres in series (∼ 60%) and an increase in muscle stiffness (∼ 900%) compared with those of the nondystrophic diaphragm, as studied during perfusion ex vivo. In addition to providing much needed endpoint measures for assessing the efficacy of therapeutics, we expect these findings to be a starting point for a more precise understanding of respiratory failure in DMD.

  13. Sildenafil reduces respiratory muscle weakness and fibrosis in the mdx mouse model of Duchenne muscular dystrophy.

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    Percival, Justin M; Whitehead, Nicholas P; Adams, Marvin E; Adamo, Candace M; Beavo, Joseph A; Froehner, Stanley C

    2012-09-01

    Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy caused by mutations in the dystrophin gene. Loss of dystrophin initiates a progressive decline in skeletal muscle integrity and contractile capacity which weakens respiratory muscles including the diaphragm, culminating in respiratory failure, the leading cause of morbidity and mortality in DMD patients. At present, corticosteroid treatment is the primary pharmacological intervention in DMD, but has limited efficacy and adverse side effects. Thus, there is an urgent need for new safe, cost-effective, and rapidly implementable treatments that slow disease progression. One promising new approach is the amplification of nitric oxide-cyclic guanosine monophosphate (NO-cGMP) signalling pathways with phosphodiesterase 5 (PDE5) inhibitors. PDE5 inhibitors serve to amplify NO signalling that is attenuated in many neuromuscular diseases including DMD. We report here that a 14-week treatment of the mdx mouse model of DMD with the PDE5 inhibitor sildenafil (Viagra(®), Revatio(®)) significantly reduced mdx diaphragm muscle weakness without impacting fatigue resistance. In addition to enhancing respiratory muscle contractility, sildenafil also promoted normal extracellular matrix organization. PDE5 inhibition slowed the establishment of mdx diaphragm fibrosis and reduced matrix metalloproteinase-13 (MMP-13) expression. Sildenafil also normalized the expression of the pro-fibrotic (and pro-inflammatory) cytokine tumour necrosis factor α (TNFα). Sildenafil-treated mdx diaphragms accumulated significantly less Evans Blue tracer dye than untreated controls, which is also indicative of improved diaphragm muscle health. We conclude that sildenafil-mediated PDE5 inhibition significantly reduces diaphragm respiratory muscle dysfunction and pathology in the mdx mouse model of Duchenne muscular dystrophy. This study provides new insights into the therapeutic utility of targeting defects in NO

  14. Respiratory muscle function in infants with spinal muscular atrophy type I.

    Science.gov (United States)

    Finkel, Richard S; Weiner, Daniel J; Mayer, Oscar H; McDonough, Joseph M; Panitch, Howard B

    2014-12-01

    To determine the feasibility and safety of respiratory muscle function testing in weak infants with a progressive neuromuscular disorder. Respiratory insufficiency is the major cause of morbidity and mortality in infants with spinal muscular atrophy type I (SMA-I). Tests of respiratory muscle strength, endurance, and breathing patterns can be performed safely in SMA-I infants. Useful data can be collected which parallels the clinical course of pulmonary function in SMA-I. An exploratory study of respiratory muscle function testing and breathing patterns in seven infants with SMA-I seen in our neuromuscular clinic. Measurements were made at initial study visit and, where possible, longitudinally over time. We measured maximal inspiratory (MIP) and transdiaphragmatic pressures, mean transdiaphragmatic pressure, airway occlusion pressure at 100 msec of inspiration, inspiratory and total respiratory cycle time, and aspects of relative thoracoabdominal motion using respiratory inductive plethysmography (RIP). The tension time index of the diaphragm and of the respiratory muscles, phase angle (Φ), phase relation during the total breath, and labored breathing index were calculated. Age at baseline study was 54-237 (median 131) days. Reliable data were obtained safely for MIP, phase angle, labored breathing index, and the invasive and non-invasive tension time indices, even in very weak infants. Data obtained corresponded to the clinical estimate of severity and predicted the need for respiratory support. The testing employed was both safe and feasible. Measurements of MIP and RIP are easily performed tests that are well tolerated and provide clinically useful information for infants with SMA-I. © 2014 Wiley Periodicals, Inc.

  15. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

    Science.gov (United States)

    Birnkrant, David J; Bushby, Katharine; Bann, Carla M; Alman, Benjamin A; Apkon, Susan D; Blackwell, Angela; Case, Laura E; Cripe, Linda; Hadjiyannakis, Stasia; Olson, Aaron K; Sheehan, Daniel W; Bolen, Julie; Weber, David R; Ward, Leanne M

    2018-01-01

    A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniques and the earlier use of therapeutic interventions, which have the potential to improve patients’ duration and quality of life. In part 2 of this update of the DMD care considerations, we present the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopaedic and surgical management for boys and men with DMD. Additionally, we provide guidance on cardiac management for female carriers of a disease-causing mutation. The new care considerations acknowledge the effects of long-term glucocorticoid use on the natural history of DMD, and the need for care guidance across the lifespan as patients live longer. The management of DMD looks set to change substantially as new genetic and molecular therapies become available. PMID:29395990

  16. Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options

    Science.gov (United States)

    LoMauro, Antonella; D’Angelo, Maria Grazia; Aliverti, Andrea

    2015-01-01

    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. This comprises interventions targeted to the manifestations and complications of the disease, particularly in the respiratory care. These include: 1) pharmacological intervention, namely corticosteroids and idebenone that significantly reduce the decline of spirometric parameters; 2) rehabilitative intervention, namely lung volume recruitment techniques that help prevent atelectasis and slows the rate of decline of pulmonary function; 3) scoliosis treatment, namely steroid therapy that is used to reduce muscle inflammation/degeneration and prolong ambulation in order to delay the onset of scoliosis, being an additional contribution to the restrictive lung pattern; 4) cough assisted devices that improve airway clearance thus reducing the risk of pulmonary infections; and 5) non-invasive mechanical ventilation that is essential to treat nocturnal hypoventilation, sleep disordered breathing, and ultimately respiratory failure. Without any intervention death occurs within the first 2 decades, however, thanks to this multidisciplinary therapeutic approach life expectancy of a newborn with DMD nowadays can be significantly prolonged up to his fourth decade. This review is aimed at providing state-of-the-art methods and techniques for the assessment and management of respiratory function in DMD patients. PMID:26451113

  17. [Spinal muscular atrophy and respiratory failure. How do primary care pediatricians act in a simulated scenario?].

    Science.gov (United States)

    Agra Tuñas, M C; Sánchez Santos, L; Busto Cuiñas, M; Rodríguez Núñez, A

    2015-11-01

    Spinal muscular atrophy type 1 (SMA-1) tends to be fatal in the first year of life if there is no ventilatory support. The decision whether to start such support is an ethical conflict for healthcare professionals. A scenario of acute respiratory failure in an infant with SMA-1 has been included in a training program using advanced simulation for Primary Care pediatricians (PCP). The performances of 34 groups of 4 pediatricians, who participated in 17 courses, were systematically analyzed. Clinical, ethical and communication aspects with parents were evaluated. The initial technical assistance (Administration of oxygen and immediate ventilatory support) was correctly performed by 94% of the teams. However, the PCP had problems in dealing with the ethical aspects of the case. Of the 85% of the teams that raised the ethical conflict with parents, 29% did so on their own initiative, 23% actively excluded them, and only 6% involved them and took their opinion into account in making decisions. Only 11.7% asked about the quality of life of children and 12% for their knowledge of the prognosis of the disease. None explained treatment alternatives, nor tried to contact the pediatrician responsible for the child. When faced with a simulated SMA-1 infant with respiratory failure, PCP have difficulties in interacting with the family, and to involve it in the decision making process. Practical training of all pediatricians should include case scenarios with an ethical clinical problem. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  18. Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J mouse model of congenital muscular dystrophy.

    Directory of Open Access Journals (Sweden)

    Qing Yu

    Full Text Available Congenital muscular dystrophy is a distinct group of diseases presenting with weakness in infancy or childhood and no current therapy. One form, MDC1A, is the result of laminin alpha-2 deficiency and results in significant weakness, respiratory insufficiency and early death. Modification of apoptosis is one potential pathway for therapy in these patients.dy(2J mice were treated with vehicle, 0.1 mg/kg or 1 mg/kg of omigapil daily via oral gavage over 17.5 weeks. Untreated age matched BL6 mice were used as controls. Functional, behavioral and histological measurements were collected.dy(2J mice treated with omigapil showed improved respiratory rates compared to vehicle treated dy(2J mice (396 to 402 vs. 371 breaths per minute, p<0.03 and similar to control mice. There were no statistical differences in normalized forelimb grip strength between dy(2J and controls at baseline or after 17.5 weeks and no significant differences seen among the dy(2J treatment groups. At 30-33 weeks of age, dy(2J mice treated with 0.1 mg/kg omigapil showed significantly more movement time and less rest time compared to vehicle treated. dy(2J mice showed normal cardiac systolic function throughout the trial. dy(2J mice had significantly lower hindlimb maximal (p<0.001 and specific force (p<0.002 compared to the control group at the end of the trial. There were no statistically significant differences in maximal or specific force among treatments. dy(2J mice treated with 0.1 mg/kg/day omigapil showed decreased percent fibrosis in both gastrocnemius (p<0.03 and diaphragm (p<0.001 compared to vehicle, and in diaphragm (p<0.013 when compared to 1 mg/kg/day omigapil treated mice. Omigapil treated dy(2J mice demonstrated decreased apoptosis.Omigapil therapy (0.1 mg/kg improved respiratory rate and decreased skeletal and respiratory muscle fibrosis in dy(2J mice. These results support a putative role for the use of omigapil in laminin deficient congenital muscular dystrophy

  19. A young man with spinal muscular atrophy and impending respiratory arrest.

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    Winters, Janine Penfield; Weisleder, Pedro

    2011-02-01

    From a statutory standpoint, the decision-making capacity of adolescents differs significantly from that of adults because adolescents are considered to lack the experience and judgment necessary to make legally binding decisions. Furthermore, in the case of minors, the principle of protection of life tends to outweigh the principle of autonomy. Here we present the hypothetical case of a 16-year-old boy with spinalmuscular atrophy type II who was admitted to the intensive care unit for severe respiratory distress. We focus on the tension that developed among the patient, his parents, and his physicians when the need for emergency mechanical ventilation became apparent. We review the legal and ethical premises under which adolescents are permitted to make legally binding decisions, ie, the emancipated minor and the mature minor doctrines. Finally, we discuss the concepts of protectionism and liberationism as they apply to adolescents' decision-making capacity.

  20. Muscular Dystrophy (MD)

    Science.gov (United States)

    ... patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. View Full Treatment Information Definition The muscular dystrophies (MD) are a group of more than 30 ...

  1. High frequency chest wall oscillation plus Mechanical In-Exsufflation in Duchenne muscular dystrophy with respiratory complications related to pandemic Influenza A/H1N1

    Directory of Open Access Journals (Sweden)

    G. Crescimanno

    2010-11-01

    Full Text Available Two young boys with Duchenne muscular dystrophy, who had contracted 2009 pandemic influenza A/H1N1 (pH1N1, had been treated with antibiotics and steroids without significant improvement. One of them showed severe scoliosis. After hospitalization chest CT scan revealed extensive pulmonary bilateral segmental atelectasis. Their clinical and radiological findings rapidly improved when a sequential respiratory physiotherapy protocol was adopted that consisted of the application of multiple sessions of high-frequency chest wall oscillations each one followed by mechanically assisted coughing manoeuvres. The protocol was well tolerated, effective, easy to apply and special positioning was not required. Fifteen days after treatment initiation both patients clinically recovered. This treatment can be very helpful for neuromuscular patients, particularly when scoliosis prevents conventional respiratory physiotherapy. Resumo: Duas crianças do sexo masculino com distrofia muscular de Duchenne que contraíram o vírus da gripe pandémica A/H1N1(pH1N1 de 2009 foram tratados com antibióticos e esteróides sem melhoria significativa.Um deles revelou escoliose severa. Depois da hospitalização, um TAC ao peito revelou uma atelectasia pulmonar segmentar bilateral extensa. Os seus resultados clínicos e radiológicos melhoraram rapidamente quando foi adoptado um tratamento de fisioterapia respiratória sequencial, consistente na aplicação de múltiplas sessões de oscilações torácicas de alta frequência, cada uma seguida por exercícios de tosse mecanicamente assistidos. O tratamento foi bem tolerado, eficaz e fácil de aplicar, sendo que não foi necessário um posicionamento especial. Quinze dias depois do início do tratamento, ambos os pacientes se encontravam clinicamente recuperados. Este tratamento pode ser muito útil em pacientes com doenças neuromusculares, particularmente quando a escoliose

  2. High frequency chest wall oscillation plus Mechanical In-Exsufflation in Duchenne muscular dystrophy with respiratory complications related to pandemic Influenza A/H1N1

    Directory of Open Access Journals (Sweden)

    G. Crescimanno

    2010-11-01

    Full Text Available Two young boys with Duchenne muscular dystrophy, who had contracted 2009 pandemic influenza A/H1N1 (pH1N1, had been treated with antibiotics and steroids without significant improvement. One of them showed severe scoliosis. After hospitalization chest CT scan revealed extensive pulmonary bilateral segmental atelectasis. Their clinical and radiological findings rapidly improved when a sequential respiratory physiotherapy protocol was adopted that consisted of the application of multiple sessions of high-frequency chest wall oscillations, each one followed by mechanically assisted coughing manoeuvres. The protocol was well tolerated, effective, easy to apply and special positioning was not required. Fifteen days after treatment initiation both patients clinically recovered. This treatment can be very helpful for neuromuscular patients, particularly when scoliosis prevents conventional respiratory physiotherapy. Resumo: Duas crianças do sexo masculino com distrofia muscular de Duchenne que contraíram o vírus da gripe pandémica A/H1N1(pH1N1 de 2009 foram tratados com antibióticos e esteróides sem melhoria significativa.Um deles revelou escoliose severa. Depois da hospitalização, um TAC ao peito revelou uma atelectasia pulmonar segmentar bilateral extensa. Os seus resultados clínicos e radiológicos melhoraram rapidamente quando foi adoptado um tratamento de fisioterapia respiratória sequencial, consistente na aplicação de múltiplas sessões de oscilações torácicas de alta frequência, cada uma seguida por exercícios de tosse mecanicamente assistidos. O tratamento foi bem tolerado, eficaz e fácil de aplicar, sendo que não foi necessário um posicionamento especial. Quinze dias depois do início do tratamento, ambos os pacientes se encontravam clinicamente recuperados. Este tratamento pode ser muito útil em pacientes com doenças neuromusculares, particularmente quando a escoliose

  3. Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.

    Science.gov (United States)

    Yu, Qing; Morales, Melissa; Li, Ning; Fritz, Alexander G; Ruobing, Ren; Blaeser, Anthony; Francois, Ershia; Lu, Qi-Long; Nagaraju, Kanneboyina; Spurney, Christopher F

    2018-04-06

    Fukutin-related protein (FKRP) mutations are the most common cause of dystroglycanopathies known to cause both limb girdle and congenital muscular dystrophy. The P448Lneo- mouse model has a knock-in mutation in the FKRP gene and develops skeletal, respiratory, and cardiac muscle disease. We studied the natural history of the P448Lneo- mouse model over 9 months and the effects of twice weekly treadmill running. Forelimb and hindlimb grip strength (Columbus Instruments) and overall activity (Omnitech Electronics) assessed skeletal muscle function. Echocardiography was performed using VisualSonics Vevo 770 (FujiFilm VisualSonics). Plethysmography was performed using whole body system (ADInstruments). Histological evaluations included quantification of inflammation, fibrosis, central nucleation, and fiber size variation. P448Lneo- mice had significantly increased normalized tissue weights compared to controls at 9 months of age for the heart, gastrocnemius, soleus, tibialis anterior, quadriceps, and triceps. There were no significant differences seen in forelimb or hindlimb grip strength or activity monitoring in P448Lneo- mice with or without exercise compared to controls. Skeletal muscles demonstrated increased inflammation, fibrosis, central nucleation, and variation in fiber size compared to controls (p muscular dystrophies.

  4. Hypokalemic muscular paralysis causing acute respiratory failure due to rhabdomyolysis with renal tubular acidosis in a chronic glue sniffer.

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    Kao, K C; Tsai, Y H; Lin, M C; Huang, C C; Tsao, C Y; Chen, Y C

    2000-01-01

    A 34-year-old male was admitted to the emergency department with the development of quadriparesis and respiratory failure due to hypokalemia after prolonged glue sniffing. The patient was subsequently given mechanical ventilatory support for respiratory failure. He was weaned from the ventilator 4 days later after potassium replacement. Toluene is an aromatic hydrocarbon found in glues, cements, and solvents. It is known to be toxic to the nervous system, hematopoietic system, and causes acid-base and electrolyte disorders. Acute respiratory failure with hypokalemia and rhabdomyolysis with acute renal failure should be considered as potential events in a protracted glue sniffing.

  5. Respiratory

    Science.gov (United States)

    The words "respiratory" and "respiration" refer to the lungs and breathing. ... Boron WF. Organization of the respiratory system. In: Boron WF, Boulpaep EL, eds. Medical Physiology . 3rd ed. Philadelphia, PA: Elsevier; 2017:chap 26.

  6. Morphologic imaging in muscular dystrophies and inflammatory myopathies

    International Nuclear Information System (INIS)

    Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick; Morillon, David; Cotten, Anne; Stojkovic, Tanya

    2010-01-01

    To determine if magnetic resonance imaging (MR imaging) is useful in the diagnostic workup of muscular dystrophies and idiopathic inflammatory myopathies for describing the topography of muscle involvement. MR imaging was performed in 31 patients: 8 with dystrophic myotony types 1 (n = 4) or 2 (n = 4); 11 with limb-girdle muscular dystrophy, including dysferlinopathy, calpainopathy, sarcoglycanopathy, and dystrophy associated with fukutin-related protein mutation; 3 with Becker muscular dystrophy; and 9 with idiopathic inflammatory myopathies, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Analysis of T1 images enabled us to describe the most affected muscles and the muscles usually spared for each muscular disease. In particular, examination of pelvis, thigh, and leg muscles demonstrated significant differences between the muscular diseases. On STIR images, hyperintensities were present in 62% of our patients with muscular dystrophies. A specific pattern of muscular involvement was established for each muscular disease. Hyperintensities observed on STIR images precede fatty degeneration and are not specific for inflammatory myopathies. (orig.)

  7. Morphologic imaging in muscular dystrophies and inflammatory myopathies

    Energy Technology Data Exchange (ETDEWEB)

    Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick [CHU de Lille, Clinique neurologique, Lille (France); Morillon, David; Cotten, Anne [CHRU de Lille, Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, Lille (France); Stojkovic, Tanya [G-H Pitie-Salpetriere, Institut de Myologie, Paris (France)

    2010-12-15

    To determine if magnetic resonance imaging (MR imaging) is useful in the diagnostic workup of muscular dystrophies and idiopathic inflammatory myopathies for describing the topography of muscle involvement. MR imaging was performed in 31 patients: 8 with dystrophic myotony types 1 (n = 4) or 2 (n = 4); 11 with limb-girdle muscular dystrophy, including dysferlinopathy, calpainopathy, sarcoglycanopathy, and dystrophy associated with fukutin-related protein mutation; 3 with Becker muscular dystrophy; and 9 with idiopathic inflammatory myopathies, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Analysis of T1 images enabled us to describe the most affected muscles and the muscles usually spared for each muscular disease. In particular, examination of pelvis, thigh, and leg muscles demonstrated significant differences between the muscular diseases. On STIR images, hyperintensities were present in 62% of our patients with muscular dystrophies. A specific pattern of muscular involvement was established for each muscular disease. Hyperintensities observed on STIR images precede fatty degeneration and are not specific for inflammatory myopathies. (orig.)

  8. Muscular Dystrophy

    Science.gov (United States)

    ... sets of muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most severe ... can walk independently. Prednisone If a child has Duchenne muscular ... to help slow the rate of muscle deterioration. By doing so, the child may be ...

  9. Treinamento muscular respiratório na revascularização do miocárdio Respiratory muscle training in patients submitted to coronary arterial bypass graft

    Directory of Open Access Journals (Sweden)

    Graziella Ferreira Barros

    2010-12-01

    Full Text Available OBJETIVOS: 1 Evidenciar a perda de capacidade ventilatória no período de pós-operatório, em pacientes submetidos à revascularização do miocárdio. 2 Testar a hipótese de que o treinamento muscular respiratório (TMR, realizado após a cirurgia, pode melhorar a capacidade ventilatória nessa população. MÉTODOS: Estudo randomizado, onde 38 pacientes (idade: 65 ± 7 anos, 29 masculinos, submetidos à revascularização miocárdica com circulação extracorpórea, foram divididos em dois grupos: 23 pacientes no grupo TMR e 15 no grupo controle (CO. O grupo TMR realizou fisioterapia convencional + TMR, o grupo CO realizou apenas fisioterapia convencional. Avaliaram-se, em três momentos (pré-operatório, primeiro dia de pós-operatório e alta hospitalar, as variáveis: pressões inspiratória e expiratória máximas (Pimáx e Pemáx, dor, dispneia (Borg, pico de fluxo expiratório (PFE, volume corrente e dias de internação. RESULTADOS: A Pimáx do grupo TMR foi maior no momento da alta (90 ± 26 vs. 55 ± 38 cmH2O, P=0,01, assim como a Pemáx (99 ± 30 vs. 53 ± 26 cmH2O, P=0,02. O PFE do grupo TMR foi maior após a internação (237 ± 93 vs. 157 ± 102 lpm, P=0,02. O volume corrente dos grupos foi também diferente no momento da alta (TMR: 0,71 ± 0,21 vs. CO: 0,44 ± 0,12 litros, P=0,00. Não houve diferenças entre os grupos com relação aos dias de internação, dispneia ou dor. CONCLUSÕES: Ocorre perda de força muscular respiratória em pacientes submetidos à revascularização miocárdica. O TMR, realizado no período pós-operatório, foi eficaz em restaurar os seguintes parâmetros: Pimáx, Pemáx, PFE e volume corrente, nessa população.OBJECTIVES: 1 To demonstrate the impaired ventilatory capacity during the post operatory period, in patients submitted to coronary arterial bypass graft surgery (CABG. 2 To test the hypothesis that the respiratory muscle training (RMT, performed after the surgery, may increase the

  10. Dystrophin Immunity in Duchenne’s Muscular Dystrophy

    Science.gov (United States)

    Mendell, Jerry R.; Campbell, Katherine; Rodino-Klapac, Louise; Sahenk, Zarife; Shilling, Chris; Lewis, Sarah; Bowles, Dawn; Gray, Steven; Li, Chengwen; Galloway, Gloria; Malik, Vinod; Coley, Brian; Clark, K. Reed; Li, Juan; Xiao, Xiao; Samulski, Jade; McPhee, Scott W.; Samulski, R. Jude; Walker, Christopher M.

    2010-01-01

    SUMMARY We report on delivery of a functional dystrophin transgene to skeletal muscle in six patients with Duchenne’s muscular dystrophy. Dystrophin-specific T cells were detected after treatment, providing evidence of transgene expression even when the functional protein was not visualized in skeletal muscle. Circulating dystrophin-specific T cells were unexpectedly detected in two patients before vector treatment. Revertant dystrophin fibers, which expressed functional, truncated dystrophin from the deleted endogenous gene after spontaneous in-frame splicing, contained epitopes targeted by the autoreactive T cells. The potential for T-cell immunity to self and nonself dystrophin epitopes should be considered in designing and monitoring experimental therapies for this disease. (Funded by the Muscular Dystrophy Association and others; ClinicalTrials.gov number, NCT00428935.) PMID:20925545

  11. Muscular Dystrophy

    Science.gov (United States)

    ... Surveillance Tracking and Research Network , known as MD STAR net . Learn more about CDC’s other muscular dystrophy ... for Disease Control and Prevention Email Recommend Tweet YouTube Instagram Listen Watch RSS ABOUT About CDC Jobs ...

  12. Muscular dystrophy

    Science.gov (United States)

    ... are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms. Physical therapy may help maintain muscle strength and function. Leg braces and a wheelchair ...

  13. Inherited myopathies and muscular dystrophies

    NARCIS (Netherlands)

    Cardamone, Michael; Darras, Basil T.; Ryan, Monique M.

    The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and

  14. What Are the Treatments for Muscular Dystrophy?

    Science.gov (United States)

    ... Child Neurology Society. (2005). Practice parameter: Corticosteroid treatment of Duchenne dystrophy. Neurology, 64 , 13-20. Retrieved June 22, 2012, ... Statement. (2004). Respiratory care of the patient with Duchenne muscular ... American Journal of Respiratory and Critical Care Medicine, 170, 456-465. ...

  15. Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran

    Directory of Open Access Journals (Sweden)

    Khadijeh Hajinaghi Tehrani

    2018-05-01

    Full Text Available Muscular dystrophy is a group of diseases that is characterized by progressive muscle wasting and the weakness of variable distribution and severity. On the basis of the distribution of predominant muscle weakness, there are many different kinds of muscular dystrophy. Some dystrophies are especially frequent in certain populations. There are no studies on the prevalence of muscular dystrophy in Iran. This study was aimed to survey the prevalence of muscular dystrophy among Iranian patients with muscular disorders. This analytical cross-sectional study was conducted on 1000 patients with musculoskeletal disorders who visited the dystrophy association of Bou-Ali Hospital (Tehran from June 2014 to June 2016. Patients’ data were extracted using a checklist that included age, gender, age of onset, family history, findings from clinical diagnostic tests and types of muscular dystrophy. The clinical findings were the results of genetic tests; EMG-NCV; para-clinical findings, including LDH and CPK; and pathological findings. All data were analyzed by SPSS V.22 (IBM Inc., NY with Chi Square and One way ANOVA tests. All analyses were performed with P = 0.05 considered as the threshold of statistical significant. Out of the 337 patients studied, 262 (77.7% were male and 75 (22.3% were female. Subjects had a mean (± SD age of 26.08 (± 11.86 years with an age range of 3 to 59 years. The most common types of muscular dystrophy were found to be Duchenne dystrophy (131 cases, 38.9%, limb-girdle dystrophy (91 cases, 27%, Becker dystrophy (58 cases, 17.2%, FSHD dystrophy (31 cases, 9.2%, and SMA (26 cases, 7.7%, respectively. The results showed that a statistically significant relationship between dystrophy types and gender, age, family history, age of diagnosis, CPK and LDH levels (P < 0.001. There were no statistical relationship between dystrophy types and pathological findings (P = 0.57, EMG-NCV test results (P = 0.062, and genetic findings (P = 0

  16. Disability and Survival in Duchenne Muscular Dystrophy

    OpenAIRE

    Kohler, M; Clarenbach, C F; Bahler, C; Brack, T; Russi, E W; Bloch, K E

    2009-01-01

    BACKGROUND: Duchenne muscular dystrophy (DMD) leads to progressive impairment of muscle function, respiratory failure and premature death. Longitudinal data on the course of physical disability and respiratory function are sparse. OBJECTIVES: To prospectively assess physical impairment and disability, respiratory function and survival in DMD patients over several years in order to describe the course of the disease with current care. METHODS: In 43 patients with DMD, aged 5-35 years, yearly a...

  17. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.

    Science.gov (United States)

    Buyse, Gunnar M; Voit, Thomas; Schara, Ulrike; Straathof, Chiara S M; D'Angelo, M Grazia; Bernert, Günther; Cuisset, Jean-Marie; Finkel, Richard S; Goemans, Nathalie; McDonald, Craig M; Rummey, Christian; Meier, Thomas

    2015-05-02

    Cardiorespiratory failure is the leading cause of death in Duchenne muscular dystrophy. Based on preclinical and phase 2 evidence, we assessed the efficacy and safety of idebenone in young patients with Duchenne muscular dystrophy who were not taking concomitant glucocorticoids. In a multicentre phase 3 trial in Belgium, Germany, the Netherlands, Switzerland, France, Sweden, Austria, Italy, Spain, and the USA, patients (age 10-18 years old) with Duchenne muscular dystrophy were randomly assigned in a one-to-one ratio with a central interactive web response system with a permuted block design with four patients per block to receive idebenone (300 mg three times a day) or matching placebo orally for 52 weeks. Study personnel and patients were masked to treatment assignment. The primary endpoint was change in peak expiratory flow (PEF) as percentage predicted (PEF%p) from baseline to week 52, measured with spirometry. Analysis was by intention to treat (ITT) and a modified ITT (mITT), which was prospectively defined to exclude patients with at least 20% difference in the yearly change in PEF%p, measured with hospital-based and weekly home-based spirometry. This study is registered with ClinicalTrials.gov, number NCT01027884. 31 patients in the idebenone group and 33 in the placebo group comprised the ITT population, and 30 and 27 comprised the mITT population. Idebenone significantly attenuated the fall in PEF%p from baseline to week 52 in the mITT (-3·05%p [95% CI -7·08 to 0·97], p=0·134, vs placebo -9·01%p [-13·18 to -4·84], p=0·0001; difference 5·96%p [0·16 to 11·76], p=0·044) and ITT populations (-2·57%p [-6·68 to 1·54], p=0·215, vs -8·84%p [-12·73 to -4·95], pmuscular dystrophy. Santhera Pharmaceuticals. Copyright © 2015 Elsevier Ltd. All rights reserved.

  18. Força muscular respiratória e capacidade funcional em idosas hipertensas com sonolência diurna excessiva Respiratory muscle strength and physical fitness in hypertensive elderly women with excessive daytime sleepiness

    Directory of Open Access Journals (Sweden)

    Rafaela Pedrosa

    2010-06-01

    Full Text Available O objetivo do estudo foi verificar se a sonolência diurna excessiva (SDE afeta a capacidade funcional (CF e força muscular respiratória entre idosas hipertensas. O estudo avaliou 32 idosas hipertensas, divididas em dois grupos (com SDE, n=17, 64,9±5,3 anos; e sem SDE, n=15, 65,9±5,5 anos, quanto a: força muscular respiratória, por manovacuometria; CF, pelo Questionário para avaliação de limitação das atividades e por testes de aptidão funcional; nível de atividade física, pelo questionário internacional de atividade física IPAQ; grau de SDE, pela escala de sonolência de Epworth; qualidade do sono, pelo índice de qualidade do sono de Pittsburgh; e intensidade do ronco, pela escala de ronco de Stanford. Os dois grupos, homogêneos quanto a características antropométricas e da hipertensão, foram comparados estatisticamente quanto a parâmetros de sono, pressões respiratórias máximas, nível de atividade física e CF. Foi encontrada diferença significativa na qualidade do sono (p=0,03, tendo as hipertensas com SDE qualidade de sono muito ruim; porém não foram encontradas diferenças significativas entre os grupos nas pressões inspiratória e expiratória máximas, nem quanto aos testes de CF. Conclui-se que a força dos músculos respiratórios não sofre alteração em decorrência da presença de SDE em idosas hipertensas e que essa sonolência não interfere na capacidade funcional.The purpose of the study was to inquire whether excessive daytime sleepiness (EDS affects functional capacity (FC and respiratory muscle strength in elderly hypertensive patients. Thirty-two elderly hypertensive female patients were divided into two groups (with EDS, n=17, mean age 64.9±5.3; without EDS, n=15, mean age 65.9±5.5 and were assessed as to respiratory muscle strength by spirometry; FC, by the Questionnaire on limitations in physical activities and by functional fitness tests; physical activity level, by the International

  19. Duchenne muscular dystrophy: the management of scoliosis

    Science.gov (United States)

    Gardner, Adrian C.; Roper, Helen P.; Chikermane, Ashish A.; Tatman, Andrew J.

    2016-01-01

    This study summaries the current management of scoliosis in patients with Duchenne Muscular Dystrophy. A literature review of Medline was performed and the collected articles critically appraised. This literature is discussed to give an overview of the current management of scoliosis within Duchenne Muscular Dystrophy. Importantly, improvements in respiratory care, the use of steroids and improving surgical techniques have allowed patients to maintain quality of life and improved life expectancy in this patient group. PMID:27757431

  20. Myotonic Muscular Dystrophy

    Science.gov (United States)

    ... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

  1. CABLES MUSCULARES

    Directory of Open Access Journals (Sweden)

    Alejandro Gómez

    Full Text Available Los cables musculares o fibras de nitinol presentan una excelente alternativa a los actuadores convencionales, con una fuerza de actuación muy alta, equivalente a la de los actuadores hidráulicos, proporcionalmente a su peso, además de su acción silenciosa. Este material, inventado en 1963, aún no es muy conocido y de ahí que se haya realizado una recopilación de sus propiedades. Entre ellas, la temperatura de transición es la más importante, por ser la que activa la aleación. Muchos sistemas se han creado para alcanzar adecuadamente la temperatura de transición, y también se continúa en la investigación de métodos que ayuden a lograr un control preciso del movimiento de la aleación con memoria de forma (SMA.

  2. Dysphagia in Duchenne Muscular Dystrophy Assessed by Validated Questionnaire

    Science.gov (United States)

    Archer, Sally K.; Garrod, Rachel; Hart, Nicholas; Miller, Simon

    2013-01-01

    Background: Duchenne muscular dystrophy (DMD) leads to progressive muscular weakness and death, most typically from respiratory complications. Dysphagia is common in DMD; however, the most appropriate swallowing assessments have not been universally agreed and the symptoms of dysphagia remain under-reported. Aims: To investigate symptoms of…

  3. Pulmonary Endpoints in Duchenne Muscular Dystrophy. A Workshop Summary.

    Science.gov (United States)

    Finder, Jonathan; Mayer, Oscar Henry; Sheehan, Daniel; Sawnani, Hemant; Abresch, R Ted; Benditt, Joshua; Birnkrant, David J; Duong, Tina; Henricson, Erik; Kinnett, Kathi; McDonald, Craig M; Connolly, Anne M

    2017-08-15

    Development of novel therapeutics for treatment of Duchenne muscular dystrophy (DMD) has led to clinical trials that include pulmonary endpoints that allow assessment of respiratory muscle status, especially in nonambulatory subjects. Parent Project Muscular Dystrophy (PPMD) convened a workshop in Bethesda, Maryland, on April 14 and 15, 2016, to summarize published respiratory data in DMD and give guidance to clinical researchers assessing the effect of interventions on pulmonary outcomes in DMD.

  4. Progressive mobility program and technology to increase the level of physical activity and its benefits in respiratory, muscular system, and functionality of ICU patients: study protocol for a randomized controlled trial.

    Science.gov (United States)

    Schujmann, Debora Stripari; Lunardi, Adriana Claudia; Fu, Carolina

    2018-05-10

    Enhanced mobility in the Intensive Care Unit (ICU) could minimize the negative effects of critical illness, such as declines in cognitive, muscular, respiratory, and functional capacity. We aim to compare the functional status at ICU discharge of patients who underwent a progressive mobilization protocol versus patients who received conventional physiotherapy. We also examine the level of physical activity in the ICU, the degree of pulmonary and muscle function, and the length of stay to analyze correlations between these variables. This is a protocol for a randomized controlled trial with blind evaluation. Ninety-six ICU patients will be recruited from a single center and randomly assigned to a control group or an intervention group. To determine the level of protocol activity the patient will receive, the patients' ability to participate actively and their muscle strength will be considered. The protocol consists of five phases, ranging from passive therapies to walking and climbing stairs. The primary outcome will be the functional status at ICU discharge, measured with the Barthel Index and the ICU Mobility Scale (IMS). Measured secondary outcomes will include the level of physical activity, maximal inspiratory and expiratory pressures, forced expiratory volume in 1 second, maximum voluntary ventilation, handgrip strength, surface electromyography of the lower limb muscles, and results of the Timed Up and Go and 2-Minute Walk tests. Evaluations will be made within 2 days of ICU discharge except for the level of activity, which will be evaluated daily. Physiological variables and activity level will be analyzed by chi-square and t tests, according to the intention-to-treat paradigm. Mobility and exercise in the ICU should be undertaken with intensity, quantity, duration, and frequency adjusted according to the patients' status. The results of this study may contribute to new knowledge of early mobility in the ICU, activity level, and varying benefits in critical

  5. Volumes, capacidades pulmonares e força muscular respiratória no pós-operatório de gastroplastia Lung volumes, lung capacities and respiratory muscle strength following gastroplasty

    Directory of Open Access Journals (Sweden)

    Denise de Moraes Paisani

    2005-04-01

    Full Text Available INTRODUÇÃO: A gastroplastia tem sido cada vez mais indicada no tratamento de obesos mórbidos, pacientes nos quais podemos identificar alteração pronunciada de volumes e capacidades pulmonares. OBJETIVO: Avaliar o comportamento dos volumes e capacidades pulmonares, força muscular respiratória, padrão respiratório e as possíveis complicações pulmonares pós-operatórias. MÉTODO: Vinte e um pacientes (três homens com média de idade de 39 ± 9,7 anos, média de índice de massa corpórea de 50,4 Kg/m², candidatos à gastroplastia, foram avaliados no pré-operatório, primeiro, terceiro e quinto dias de pós-operatório e submetidos a mensuração de volume corrente, capacidade vital, volume minuto, pressões máximas expiratória e inspiratória, e circunferências abdominal e torácica. Observou-se a ocorrência de complicações pulmonares pós-operatórias e mortalidade. RESULTADOS: No primeiro e terceiro dias de pós-operatório houve queda de 47% e 30,5% na capacidade vital, 18% e 12,5% no volume minuto, 28% e 21% no volume corrente, 47% e 32% no índice diafragmático, 51% e 26% na pressão inspiratória máxima, e 39,5% e 26% na pressão expiratória máxima, respectivamente (p BACKGROUND: Gastroplasty has been increasingly used in the treatment of morbidly obese patients, who typically present pronounced alterations in lung volume and capacity. OBJECTIVE: To evaluate post-gastroplasty lung volume, lung capacity, respiratory muscle strength and respiratory pattern, as well as any postoperative pulmonary complications. METHOD: 21 patients (3 of them men, with an average age of 39 ± 9.7 years and an average body mass index of 50.4 kg/m², all candidates for gastroplasty, were evaluated during the preoperative period and again on the first, third and fifth postoperative days. Tidal volume, vital capacity, minute volume, maximal expiratory pressure and maximal inspiratory pressure, as well as chest and waist circumferences, were

  6. Effects of an aquatic versus non-aquatic respiratory exercise program on the respiratory muscle strength in healthy aged persons Efeitos de um programa de cinesioterapia respiratória desenvolvido em dois meios diferentes - aquático e solo - na força muscular respiratória de idosos saudáveis

    Directory of Open Access Journals (Sweden)

    Maiza Ritomy Ide

    2005-04-01

    Full Text Available Aging of the worldwide population is a concern of most governmental entities, spanning practically all areas of prevention and rehabilitation. Aging leads to physiological alterations that result in adverse social and financial effects. There is a trend to emphasize prevention, which is less expensive and socially more desirable than therapeutic intervention. PURPOSE: To assess the effect of a program of aquatic versus non-aquatic respiratory exercises on respiratory muscle strength in healthy aged persons. METHODS: The respiratory muscle strength was measured in 81 subjects between 60 and 65 years, 59 of which completed the program. Subjects were randomized into 3 groups. Gaquatic undertook a program of respiratory exercise in an aquatic environment. Gnon-aquatic undertook the same program in a non-aquatic environment. Gcontrol acted as the negative control. Programs were applied three times a week for 10 consecutive weeks. Subsequently, subjects were reevaluated, and results compared to each individual's pre-treatment own result and between the groups. The data were statistically analyzed using the paired t test and the Sign test. Comparisons between the groups were performed through parametric and nonparametric variance. A comparison of Gaquatic and Gnon-aquatic versus Gcontrol was performed using the Dunnett test. RESULTS: A significant improvement in the inspiratory muscle strength in the Gaquatic group compared to the Gcontrol, group was found, suggesting beneficial effects mediated by the aquatic exercise. The expiratory muscles did not show significant alterations. CONCLUSION: Aquatic respiratory exercise improves the inspiratory muscle strength of healthy aged persons. However, neither aquatic nor non-aquatic respiratory exercise influences the expiratory muscle strength.O envelhecimento da população mundial é uma preocupação para grande parte das entidades governamentais. Acarreta alterações fisiológicas em todo o organismo e

  7. Respiratory muscle training for multiple sclerosis

    NARCIS (Netherlands)

    Rietberg, Marc B.; Veerbeek, Janne M.; Gosselink, Rik; Kwakkel, Gert; van Wegen, Erwin E.H.

    2017-01-01

    Background: Multiple sclerosis (MS) is a chronic disease of the central nervous system, affecting approximately 2.5 million people worldwide. People with MS may experience limitations in muscular strength and endurance - including the respiratory muscles, affecting functional performance and

  8. Spinal Muscular Atrophy FAQ

    Science.gov (United States)

    ... as ALS (Lou Gehrig’s Disease), cystic fibrosis and Duchenne muscular dystrophy. Approximately 1 in 50 Americans, or about 6 ... Pediatric Neuromuscular Clinical Research Network ( PNCR ) and the Muscular ... is the SMN2 gene? Muscle weakness and atrophy in SMA results from the ...

  9. Facioscapulohumeral muscular dystrophy

    Science.gov (United States)

    ... There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help maintain muscle ...

  10. Natural history of Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Qing KE

    2015-05-01

    Full Text Available Duchenne muscular dystrophy (DMD is X-linked recessive hereditary disease. DMD gene mutations result in dystrophin deficiency, which causes not only muscle movement disorders but also scoliosis, cognitive dysfunction, urinary tract diseases, respiratory diseases and heart diseases. Most patients die in early adult for respiratory and circulatory failure. Early multidisciplinary therapies will significantly delay disease progression and improve patients' quality of life. However, DMD diagnosis and treatment exist significantly time delay now. In this study, we review the natural history of DMD, including motor, cognitive, respiratory and heart function, for improving DMD early recognition, diagnosis and treatment, so as to benefit DMD patients. DOI: 10.3969/j.issn.1672-6731.2015.05.004

  11. Rhabdomyolysis featuring muscular dystrophies.

    Science.gov (United States)

    Lahoria, Rajat; Milone, Margherita

    2016-02-15

    Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies is under-recognized in clinical practice. To identify muscular dystrophies presenting with rhabdomyolysis at onset or as predominant feature. We retrospectively reviewed clinical and laboratory data of patients with a genetically confirmed muscular dystrophy in whom rhabdomyolysis was the presenting or main clinical manifestation. Thirteen unrelated patients (males=6; females=7) were identified. Median age at time of rhabdomyolysis was 18 years (range, 2-47) and median duration between the first episode of rhabdomyolysis and molecular diagnosis was 2 years. Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2). Four patients experienced recurrent rhabdomyolysis. Eight patients were asymptomatic and 3 reported myalgia and exercise intolerance prior to the rhabdomyolysis. Exercise (n=6) and fever (n=4) were common triggers; rhabdomyolysis was unprovoked in 3 patients. Twelve patients required hospitalization. Baseline CK levels were elevated in all patients (median 1200 IU/L; range, 600-3600). Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Proximal spinal muscular atrophy: current orthopedic perspective

    Directory of Open Access Journals (Sweden)

    Haaker G

    2013-11-01

    Full Text Available Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach. Keywords: spinal muscular atrophy, scoliosis, contractures, fractures, lung function, treatment, rehabilitation, surgery, ventilation, nutrition, perioperative management

  13. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

  14. Urological manifestations of Duchenne muscular dystrophy.

    Science.gov (United States)

    Askeland, Eric J; Arlen, Angela M; Erickson, Bradley A; Mathews, Katherine D; Cooper, Christopher S

    2013-10-01

    Duchenne muscular dystrophy is a dystrophinopathy affecting males that is associated with multiple organ system complications. To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date. We reviewed the medical charts of 135 patients with Duchenne or Duchenne-Becker muscular dystrophy for demographics and disease progression, urological diagnoses, intervention and followup. Of 135 patients 67 (50%) had at least 1 documented urological diagnosis and 38 (28%) had multiple manifestations. Lower urinary tract symptoms were the most common urological diagnosis (32% of patients). Survival analysis revealed a median age at onset of lower urinary tract symptoms of 23 years (95% CI 17.7-23.9). Intervention was required in 12 patients (9%), most commonly due to nephrolithiasis. Urological morbidity increased with Duchenne muscular dystrophy progression when stratified by clinical progression. Lower urinary tract symptoms were more common in nonambulatory patients (40.7% vs 19%, p = 0.007), those with a diagnosis of scoliosis (44% vs 19.7%, p = 0.003) and/or scoliosis spine surgery (60% vs 22%, p <0.001), and those on invasive respiratory support (53% vs 29%, p = 0.046). Likewise, nephrolithiasis was more common in nonambulatory patients (10% vs 0%, p = 0.017), those with scoliosis (12% vs 0%, p = 0.004) and/or scoliosis spine surgery (20% vs 1%, p <0.001), and those on invasive respiratory support (29% vs 3%, p <0.001). Only 28% of patients with a urological manifestation were referred to urology. As these patients transition into adolescence and adulthood, the increased prevalence of urological manifestations warrants increased awareness and referral to urologists. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  15. Dismorfia muscular Muscle dysmorphia

    Directory of Open Access Journals (Sweden)

    Sheila Seleri Marques Assunção

    2002-12-01

    Full Text Available Preocupações mórbidas com a imagem corporal eram tidas até recentemente como problemas eminentemente femininos. Atualmente estas preocupações também têm sido encontradas no sexo masculino. A dismorfia muscular é um subtipo do transtorno dismórfico corporal que ocorre principalmente em homens que, apesar da grande hipertrofia muscular, consideram-se pequenos e fracos. Além de estar associada a prejuízos sociais, ocupacionais, recreativos e em outras áreas do funcionamento do indivíduo, a dismorfia muscular é também um fator de risco para o abuso de esteróides anabolizantes. Este artigo aborda aspectos epidemiológicos, etiológicos e padrões clínicos da dismorfia muscular, além de tecer comentários sobre estratégias de tratamento para este transtorno.Morbid concern over body image was considered, until recently, a female issue. Nowadays, it has been viewed as a common male disorder. Muscle dysmorphia, a subtype of a body dysmorphic disorder, affects men who, despite having clear muscular hypertroph,y see themselves as frail and small. Besides being associated to major social, leisure and occupational dysfunction, muscle dysmorphia is also a risk factor for the abuse of steroids. This article describes epidemiological, etiological and clinical characteristics of muscle dysmorphia and comments on its treatment strategy.

  16. Evaluation of Limb-Girdle Muscular Dystrophy

    Science.gov (United States)

    2014-03-06

    Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency); Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency); Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

  17. Respiratory acidosis

    Science.gov (United States)

    Ventilatory failure; Respiratory failure; Acidosis - respiratory ... Causes of respiratory acidosis include: Diseases of the airways (such as asthma and COPD ) Diseases of the lung tissue (such as ...

  18. Learning about Duchenne Muscular Dystrophy

    Science.gov (United States)

    ... protein. Often these boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) ... National Library of Medicine Web site Duchenne and Becker muscular dystrophy [ghr.nlm.nih.gov] From Genetics Home Reference ...

  19. Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico.

    Science.gov (United States)

    Ramos, Edwardo; Conde, José G; Berrios, Rafael Arias; Pardo, Sherly; Gómez, Omar; Mas Rodríguez, Manuel F

    2016-05-27

    Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse. To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients. Patients selected for data analysis matched "definite", "probable" and "possible" case definitions as established by MD STARnet. A total of 141 patients matched the inclusion criteria, with 64.5% and 35.5% being categorized into DMD and BMD, respectively. DMD and BMD prevalence in Puerto Rico was estimated at 5.18 and 2.84 per 100,000 males, respectively. Deletion was the most common form of mutation (66.7%) in the dystrophin gene, with exons in segment 45 to 47 being the most frequently affected. This is the first report of the prevalence and genetic profile characteristics of DMD and BMD in Puerto Rico. Prevalence of DMD was similar to that reported worldwide, while prevalence of BMD was higher. Genetic profile was consistent with that reported in the literature.

  20. Meaning of Muscular Dystrophy

    Science.gov (United States)

    ... is very similar to Duchenne, except kids with Becker MD may not have problems until much later, when they're teenagers or adults. It takes a long time for their muscles to become weak. How Does a Kid Get Muscular Dystrophy? MD is not contagious (say: con-TAY-juss), ...

  1. Progress study of the cardiac damage in Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    ZHANG Yao

    2013-05-01

    Full Text Available Duchenne muscular dystrophy (DMD is a fatal muscular disease with rapid progression in children. Most patients die of respiratory and circulatory failure before the age of 20 if there is no systematic treatment. Now the heart problem in this disease has become increasingly prominent, and is thought to be closely associated with certain dystrophin exon deletion. We would like to review the epidemiology, relevance of dystrophin, pathogenesis, clinical manifestations and pathological features, as well as early prevention and treatment of DMD.

  2. Management of myocardial damage in muscular dystrophy

    International Nuclear Information System (INIS)

    Tamura, Takuhisa

    2011-01-01

    Heart failure (HF) is a fatal complication in many muscular dystrophy cases and has become the most common cause of death in Duchenne muscular dystrophy (DMD) since 2001. HF deaths in DMD occur in young patients and increase, along with respiratory failure, in older patients. Managing HF, therefore, is the most important component of DMD treatment. Management of HF is necessary in DMD patients of all ages because myocardial damage progresses regardless of age and disability. Electrocardiography, echocardiography, myocardial single-photon emission computed tomography (SPECT), and natriuretic peptides are used for the diagnosis of myocardial damage and chronic HF. Tissue Doppler echocardiography is in particularly useful for early detection of minute myocardial damage and dysfunction in DMD. The first-line drugs for chronic HF are angiotensin-converting enzyme inhibitors, and the prognosis of DMD patients has been improved using these drugs and beta-blockers. Diuretics are added in the presence of pulmonary congestion. Digoxin is most effective at a blood level of 0.5-0.8 ng/mL because of its pharmacokinetics in DMD. Surgical treatment may be necessary in cases of intractable HF. Cardiac resynchronization therapy (biventricular pacing), a treatment with an artificial pacemaker, is indicated for cases that meet specific criteria, including HF with ventricular dyssynchrony. Applications of partial left ventriculectomy (Batista procedure) and left ventricular assist devices in muscular dystrophy are likely in the near future. (author)

  3. Duchenne muscular dystrophy carriers

    International Nuclear Information System (INIS)

    Matsumura, K.; Nakano, I.

    1989-01-01

    By means of magnetic resonance imaging (MRI), the proton spin-lattice relaxation times (T1 values) of the skeletal muscles were measured in Duchenne muscular dystrophy (DMD) carriers and normal controls. The bound water fraction (BWF) was calculated from the T1 values obtained, according to the fast proton diffusion model. In the DMD carriers, T1 values of the gluteus maximus and quadriceps femoris muscles were significantly higher, and BWFs of these muscles were significantly lower than in normal control. Degenerative muscular changes accompanied by interstitial edema were presumed responsible for this abnormality. No correlation was observed between the muscle T1 and serum creatine kinase values. The present study showed that MRI could be a useful method for studying the dynamic state of water in both normal and pathological skeletal muscles. Its possible utility for DMD carrier detection was discussed briefly. (orig.)

  4. Respiratory alkalosis

    Science.gov (United States)

    Alkalosis - respiratory ... leads to shortness of breath can also cause respiratory alkalosis (such as pulmonary embolism and asthma). ... Treatment is aimed at the condition that causes respiratory alkalosis. Breathing into a paper bag -- or using ...

  5. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

    Directory of Open Access Journals (Sweden)

    Ana Cotta

    2014-09-01

    Full Text Available Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

  6. Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation.

    Science.gov (United States)

    Ebrahimzadeh-Vesal, Reza; Teymoori, Atieh; Azimi-Nezhad, Mohsen; Hosseini, Forough Sadat

    2018-02-20

    Duchenne Muscular Dystrophy (DMD; MIM 310200) is one of the most common and severe type of hereditary muscular dystrophies. The disease is caused by mutations in the dystrophin gene. The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy. This disease occurs almost exclusively in males. The clinical symptoms of muscle weakness usually begin at childhood. The main symptoms of this disorder are gradually muscular weakness. The affected patients have inability to standing up and walking. Death is usually due to respiratory infection or cardiomyopathy. In this article, we have reported the discovery of a new nonsense mutation that creates abnormal stop codon in the dystrophin gene. This mutation was detected using Next Generation Sequencing (NGS) technique. The subject was a 17-year-old male with muscular dystrophy that who was suspected of having DMD. He was referred to Hakim medical genetics center of Neyshabur, IRAN. Copyright © 2017. Published by Elsevier B.V.

  7. Prevalence of cardiomyopathy in duchenne and becker's muscular dystrophy

    International Nuclear Information System (INIS)

    Sultan, A.; Fayaz, M.

    2008-01-01

    Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy. Methods: It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments. The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram. Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years. (author)

  8. Cardio-Muscular Conditioner

    Science.gov (United States)

    1993-01-01

    In the mid-sixties, Gary Graham, a Boeing designer, developed a cardiovascular conditioner for a planned Air Force orbiting laboratory. After the project was cancelled, Graham participated in space station conditioning studies for the Skylab program. Twenty years later, he used this expertise to develop the Shuttle 2000-1, a physical therapy and athletic development conditioner, available through Contemporary Designs. The machine is used by football teams, sports clinics and medical rehabilitation centers. Cardiovascular fitness and muscular strength development are promoted through both kinetic and plyometric exercises.

  9. Suplementação oral de L-carnitina associada ao treinamento físico e muscular respiratório na doença pulmonar obstrutiva crônica: estudo preliminar Oral supplementation of L-carnitine combined with exercise and respiratory training in patients with chronic obstructive pulmonary disease: preliminary study

    Directory of Open Access Journals (Sweden)

    Matheus Guedes Fernandes Silva

    2012-12-01

    Full Text Available Avaliar os efeitos da suplementação oral de L-carnitina associada ao treinamento físico e muscular respiratório na doença pulmonar obstrutiva crônica (DPOC. Participaram 14 voluntários com idade de 65±10,4 anos e diagnóstico clínico de DPOC moderado, classificados de acordo com a espirometria prévia. Os voluntários foram divididos em grupo treino esteira (GTE e grupo treino muscular respiratório (GTMR. Realizaram o teste de caminhada de seis minutos (TC6', teste de caminhada com carga progressiva (TCP, avaliação nutricional do índice de massa corpórea (IMC, dose diária recomendada de L-carnitina, pressões inspiratórias (PImáx e expiratórias máximas (PEmáx. Fizeram 30 min de caminhada em esteira, 3 vezes/semana por 10 semanas, e o GTMR realizou, ainda, 10 min de treinamento muscular inspiratório (Threshold® IMT e 10 min de treinamento muscular expiratório (Threshold® PEP à 50% da PImáx e PEmáx ajustados semanalmente. Após 10 semanas, foram reavaliados. No TC6' pré e pós-programa de treinamento físico, as variáveis alteradas foram: distância percorrida (DP, frequência cardíaca (FC final, pressão arterial sistólica (PAS final, pressão arterial diastólica (PAD final e Borg final no GTMR, no GTE as variáveis alteradas foram FC repouso, FC final, PAS final, Borg repouso e DP. Comparando os grupos no TC6, o GTE apresentou FC final, PAD final e Borg final maiores do que o GTMR na reavaliação; já no TCP, a FC final, PAS final, Borg final foram maiores no GTE, e DP foi maior no GTMR. Na avaliação respiratória, a PEmáx foi maior no GTMR na reavaliação. O treino aeróbio e suplementação de L-carnitina na DPOC otimizou a performance, a capacidade física e a tolerância ao esforço.To evaluate the effects of oral supplementation of L-carnitine associated with physical and respiratory muscles training in chronic obstructive pulmonary disease (COPD. Participated 14 COPD volunteers (65±10.4 years, divided

  10. Limb-Girdle Muscular Dystrophy (LGMD)

    Science.gov (United States)

    ... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

  11. Força muscular respiratória, postura corporal, intensidade vocal e tempos máximos de fonação na Doença de Parkinson Respiratory muscle strength, body posture, vocal intensity and maximum phonation times in Parkinson Disease

    Directory of Open Access Journals (Sweden)

    Fernanda Vargas Ferreira

    2012-04-01

    Full Text Available TEMA: Verificar os achados de força muscular respiratória (FMR, postura corporal (PC, intensidade vocal (IV e tempos máximos de fonação (TMF, em indivíduos com Doença de Parkinson (DP e casos de controle, conforme o sexo, o estágio da DP e o nível de atividade física (AF. PROCEDIMENTOS: três homens e duas mulheres com DP, entre 36 e 63 anos (casos de estudo - CE, e cinco indivíduos sem doenças neurológicas, pareados em idade, sexo e nível de AF (casos de controle - CC. Avaliadas a FMR, PC, IV e TMF. RESULTADOS: homens: diminuição mais acentuada dos TMF, IV e FMR nos parkinsonianos, mais alterações posturais nos idosos; mulheres com e sem DP: alterações posturais similares, relação positiva entre estágio, nível de AF e as demais medidas. CONCLUSÕES: Verificou-se nas parkinsonianas, prejuízo na IV e nos parkinsonianos déficits nos TMF, IV e FMR. Sugerem-se novos estudos sob um viés interdisciplinar.PURPOSE: To check the findings on respiratory muscular strength (RMS, body posture (BP, vocal intensity (VI and maximum phonation time (MPT, in patients with Parkinson Disease (PD and control cases, according to gender, Parkinson Disease stage (PD and the level of physical activity (PA. METHODS: three men and two women with PD, between 36 and 63 year old (study cases - SC, and five subjects without neurologic diseases, of the same age, gender and PA level (control cases - CC. We evaluated RMS, BP, VI and MPT. RESULTS: men: a more pronounced decrease of MPT, VI, RMS in Parkinson patients, plus postural alterations in the elderly; women: similar postural alterations, positive relation between stages, PA level and the other measures. CONCLUSIONS: We observed in women with PD, impaired VI; in men with PD deficits in MPT, VI, RMS. We suggest further studies under an interdisciplinary bias.

  12. Influência da adequação postural em cadeira de rodas na função respiratória de pacientes com amiotrofia espinhal tipo II Influence of wheelchair positioning aids on the respiratory function of patients with type II spinal muscular atrophy

    Directory of Open Access Journals (Sweden)

    Luanda André Collange

    2009-09-01

    Full Text Available Este estudo visou determinar a influência da adequação postural em cadeira de rodas na função respiratória de pacientes com amiotrofia espinhal tipo II (AME. Doze pacientes (idades entre 7 e 24 anos com diagnóstico de AME II, confirmado por achados clínicos e análise genética, participaram do estudo. Os parâmetros respiratórios - volume minuto (VM, volume corrente (VC, capacidade vital forçada (CVF, pressões inspiratória (PImáx e expiratória (PEmáx máximas e pico de fluxo expiratório (PFE - na cadeira de rodas individual, com adaptações, e em uma cadeira de rodas padrão, isto é, sem reclinação ou inclinação. Os resultados mostram valores melhores estatisticamente significativos de todos os parâmetros respiratórios (VM, p=0,002; VC, p=0,003; CVF, p=0,017; PImáx, p=0,002; PEmáx, p=0,006; e PFE, p=0,007 nas medidas tomadas na cadeira adaptada para a postura adequada. Os resultados permitem concluir que a adequação postural em cadeira de rodas influencia positivamente a função respiratória de pacientes com AME tipo II.This study aimed at determining the influence of adequate wheelchair positioning aids on the respiratory function in spinal muscular atrophy (SMA type II patients. Twelve patients (aged 7 to 24 with SMA diagnosed by clinical findings and confirmed by genetic analysis, who owned wheelchairs with positioning aids, underwent spirometric assessment - as to minute volume (MV, tidal volume (TV, forced vital capacity (FVC, maximum inspiratory (IPmax and expiratory (EPmax pressures, and peak expiratory flow (PEF - both on their own wheelchair and on a standard wheelchair with no recline or tilt. Results show significantly better values in all assessed parameters (MV, p=0.002; TV, p=0.003; FVC, p=0.017; IPmax, p=0.002, EPmax, p=0.006; and PEF, p=0.007 of measures taken at the patient's own chair, with positioning aids. These results allow for concluding that wheelchair positioning aids may positively

  13. Relação da função muscular respiratória e de membros inferiores de idosos comunitários com a capacidade funcional avaliada por teste de caminhada Relationship between functional capacity assessed by walking test and respiratory and lower limb muscle function in community-dwelling elders

    Directory of Open Access Journals (Sweden)

    Leonardo A. Simões

    2010-02-01

    Full Text Available CONTEXTUALIZAÇÃO: A sarcopenia é considerada o fator mais significativo na redução da força muscular periférica e respiratória e pode ocasionar incapacidades progressivas, perda de independência e interferir na capacidade funcional dos idosos. OBJETIVOS: Caracterizar a força dos músculos respiratórios (pressão inspiratória máxima - PImax e pressão expiratória máxima - PEmax e de membros inferiores (MMII, bem como as possíveis correlações existentes com a capacidade funcional dos idosos. MÉTODOS: Sessenta e cinco idosos, com 71,7±4,9 anos; foram avaliados por dinamometria isocinética para flexores e extensores dos joelhos, manovacuometria analógica para os músculos respiratórios pelo teste de caminhada de 6 minutos para capacidade funcional. Foram utilizados os testes Mann-Whitney e t de Student para comparação entre os gêneros. As correlações foram calculadas pelo coeficiente de correlação de Pearson. Para todos os testes foi considerado pBACKGROUND: Sarcopenia is the most significant factor in the decline of peripheral and respiratory muscle strength. It can lead to progressive disability, loss of independence and impaired functional capacity. OBJECTIVES: To determine the strength of respiratory muscles (maximal inspiratory pressure - MIP and maximal expiratory pressure - MEP and lower limb muscles, and to explore the possible relationships between these variables and the functional capacity of the elderly. METHODS: Sixty-five elderly patients (71.7±4.9 years old took part in the study. Isokinetic dynamometry was used to assess the knee flexors and extensors, an analog vacuum manometer was used to assess the respiratory muscles, and the six-minute walking test was used as an outcome of functional capacity. The Mann-Whitney test and Student's t-test were used for gender comparison. The relationships were investigated using Pearson's correlation. The significance level was p<0.05. RESULTS: The lower limb and

  14. Evolution of respiratory muscle strength in post-operative gastroplasty Evolução da força muscular respiratória no período pós-operatório de gastroplastia redutora

    Directory of Open Access Journals (Sweden)

    Verônica F. Parreira

    2012-06-01

    Full Text Available BACKGROUND: Obesity is a worldwide health problem that may also induce respiratory dysfunction. Literature linking weight loss and maximum respiratory pressures is inconclusive. OBJECTIVE: To evaluate longitudinally the maximum inspiratory pressure (MIP and maximum expiratory pressure (MEP of morbidly obese individuals before and after gastric bypass surgery, and to compare them to a control group matched by sex and age. METHODS: A vacuum manometer (GeRar®, SP, Brazil was used to assess the MIP and MEP of 30 morbidly obese participants (24 women, aged 32±8 years and with body mass index (BMI of 43±4 kg/m², both before and then one and six months after gastric bypass surgery. After an average of 36 months, 17 patients were reevaluated. A control group of 30 individuals with normal lung function (aged 30±8 with a BMI of 22±2 kg/m² was also studied. An unpaired t-test and ANOVA for repeated measures were used for statistical analysis, with pCONTEXTUALIZAÇÃO: A obesidade é um problema de saúde em todo o mundo e pode causar disfunção respiratória. A literatura que associa a perda de peso corporal às pressões respiratórias máximas (PRM é inconclusiva. OBJETIVO: Avaliar, longitudinalmente, a pressão inspiratória máxima (PImáx e a pressão expiratória máxima (PEmáx de pacientes com obesidade mórbida antes e após gastroplastia redutora e compará-los a um grupo controle pareado por sexo e idade. MÉTODO: Um manovacuômetro (GeRar®, SP, Brasil foi utilizado para avaliar PImáx e PEmáx de 30 participantes obesos (24 mulheres e seis homens, 32±8 anos, com índice de massa corporal (IMC de 43±4 kg/m², antes da gastroplastia redutora e após um e seis meses. Após 36 meses, em média, foram reavaliados 17 obesos. Como grupo controle, foram avaliados 30 indivíduos com função pulmonar normal, 30±8 anos, e IMC de 22±2 kg/m². Para análise estatística, utilizou-se teste t de Student para grupos independentes e ANOVA para

  15. Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H

    Science.gov (United States)

    Kudryashova, Elena; Kramerova, Irina; Spencer, Melissa J.

    2012-01-01

    Mutations in the E3 ubiquitin ligase tripartite motif-containing 32 (TRIM32) are responsible for the disease limb-girdle muscular dystrophy 2H (LGMD2H). Previously, we generated Trim32 knockout mice (Trim32–/– mice) and showed that they display a myopathic phenotype accompanied by neurogenic features. Here, we used these mice to investigate the muscle-specific defects arising from the absence of TRIM32, which underlie the myopathic phenotype. Using 2 models of induced atrophy, we showed that TRIM32 is dispensable for muscle atrophy. Conversely, TRIM32 was necessary for muscle regrowth after atrophy. Furthermore, TRIM32-deficient primary myoblasts underwent premature senescence and impaired myogenesis due to accumulation of PIAS4, an E3 SUMO ligase and TRIM32 substrate that was previously shown to be associated with senescence. Premature senescence of myoblasts was also observed in vivo in an atrophy/regrowth model. Trim32–/– muscles had substantially fewer activated satellite cells, increased PIAS4 levels, and growth failure compared with wild-type muscles. Moreover, Trim32–/– muscles exhibited features of premature sarcopenia, such as selective type II fast fiber atrophy. These results imply that premature senescence of muscle satellite cells is an underlying pathogenic feature of LGMD2H and reveal what we believe to be a new mechanism of muscular dystrophy associated with reductions in available satellite cells and premature sarcopenia. PMID:22505452

  16. Becker muscular dystrophy

    Science.gov (United States)

    The health care provider will do a nervous system (neurological) and muscle exam. A careful medical history is also important, ... the legs and pelvis, then moves to the muscles of the shoulders, ... respiratory system Tests that may be done include: CPK blood ...

  17. Limb girdle muscular dystrophies

    DEFF Research Database (Denmark)

    Vissing, John

    2016-01-01

    PURPOSE OF REVIEW: The aim of the study was to describe the clinical spectrum of limb girdle muscular dystrophies (LGMDs), the pitfalls of the current classification system for LGMDs, and emerging therapies for these conditions. RECENT FINDINGS: Close to half of all LGMD subtypes have been...... or are registered in other classification systems for muscle disease. On the contrary, diseases that fulfill classical criteria for LGMD have found no place in the LGMD classification system. These shortcomings call for revision/creation of a new classification system for LGMD. The rapidly expanding gene sequencing...... capabilities have helped to speed up new LGMD discoveries, and unveiled pheno-/genotype relations. Parallel to this progress in identifying new LGMD subtypes, emerging therapies for LGMDs are under way, but no disease-specific treatment is yet available for nonexperimental use. SUMMARY: The field of LGMD...

  18. Orocaecal transit time in Duchenne muscular dystrophy.

    OpenAIRE

    Korman, S H; Bar-Oz, B; Granot, E; Meyer, S

    1991-01-01

    Smooth muscle degeneration may occur in Duchenne muscular dystrophy. We measured fasting orocaecal transit time in patients with advanced Duchenne muscular dystrophy and other muscular dystrophies and in healthy controls. No significant differences were found. In contrast to reports of gastric hypomotility in Duchenne muscular dystrophy, we found no evidence of impaired small intestinal motility.

  19. Muscular Dystrophy: Hope Through Research

    Science.gov (United States)

    ... of muscular dystrophy appeared in 1830, when Sir Charles Bell wrote an essay about an illness that ... linked disorder to their sons but their daughters will be carriers of that disorder. Carrier females occasionally ...

  20. Respiratory Failure

    Science.gov (United States)

    Respiratory failure happens when not enough oxygen passes from your lungs into your blood. Your body's organs, ... brain, need oxygen-rich blood to work well. Respiratory failure also can happen if your lungs can' ...

  1. Respiratory system

    Science.gov (United States)

    Bartlett, R. G., Jr.

    1973-01-01

    The general anatomy and function of the human respiratory system is summarized. Breathing movements, control of breathing, lung volumes and capacities, mechanical relations, and factors relevant to respiratory support and equipment design are discussed.

  2. Duchenne and Becker muscular dystrophy in adolescents: current perspectives

    Directory of Open Access Journals (Sweden)

    Andrews JG

    2018-03-01

    Full Text Available Jennifer G Andrews, Richard A Wahl Department of Pediatrics, University of Arizona, Tucson, AZ, USA Abstract: Duchenne muscular dystrophy (DMD and Becker muscular dystrophy (BMD are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives. Keywords: adolescent health, review, Duchenne muscular dystrophy, Becker muscular dystrophy, dystrophinopathy, palliative care

  3. Forced oscillation technique in spinal muscular atrophy.

    Science.gov (United States)

    Gauld, Leanne M; Keeling, Lucy A; Shackleton, Claire E; Sly, Peter D

    2014-09-01

    Spinal muscular atrophy (SMA) causes respiratory compromise that is difficult to assess in young children. The forced oscillation technique (FOT) is commercially available for children as young as 2 years of age and is nonvolitional. The aim of this study was to assess the usefulness of FOT in young children with SMA. Children with SMA aged resistance at 8 Hz (Rrs8) (mean z score, +0.66; SD, 1.34; P = .12) were abnormal. Four children performed spirometry. Linear relationships to Xrs8 exist: FVC (R2, 0.54), unassisted PCF (R2, 0.33), assisted PCF (R2, 0.43), and AHI (R2, 0.32). Over 12 months, Xrs8z score worsened (rate of change of +1.08, P change +0.51, P .05) was found between clinical characteristics and FOT values. FOT is feasible in young children with SMA, with abnormal values of reactance and resistance on grouped data, worsening over 12 months. Xrs8 is related to respiratory tests used to monitor progress in SMA (FVC, PCF, AHI). Further research on the value of FOT in managing individuals is warranted.

  4. Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

    Directory of Open Access Journals (Sweden)

    Feder D

    2017-10-01

    Full Text Available David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery and Surgical Specialties, University of Modena and Reggio Emilia Medical School, Surgical Clinic, Modena, Italy; 3Neuroscience Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil Abstract: Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures. Fat embolism syndrome is characterized by consciousness disturbance, respiratory failure and skin rashes. The use of steroids in Duchenne muscular dystrophy may result in vertebral fractures, even without previous trauma. Approximately 25% of patients with Duchenne muscular dystrophy have a long bone fracture, and 1% to 22% of fractures have a chance to develop fat embolism syndrome. As the patients with Duchenne muscular dystrophy have progressive cardiac and respiratory muscle dysfunction, the fat embolism may be unnoticed clinically and may result in increased risk of death and major complications. Different treatments and prevention measures of fat embolism have been proposed; however, so far, there is no efficient therapy. The prevention, early diagnosis and adequate symptomatic treatment are of paramount importance. The fat embolism syndrome should always be considered in patients with Duchenne muscular dystrophy presenting with fractures, or an unexplained and

  5. Muscular dystrophy in a dog resembling human becker muscular dystrophy.

    Science.gov (United States)

    Baroncelli, A B; Abellonio, F; Pagano, T B; Esposito, I; Peirone, B; Papparella, S; Paciello, O

    2014-05-01

    A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked variability in myofibre size, replacement of muscle with mature adipose tissue and degeneration/regeneration of muscle fibres, consistent with muscular dystrophy. Immunohistochemical examination for dystrophin showed markedly reduced labelling with monoclonal antibodies specific for the rod domain and the carboxy-terminal of dystrophin, while expression of β-sarcoglycan, γ-sarcoglycan and β-dystroglycan was normal. Immunoblotting revealed a truncated dystrophin protein of approximately 135 kDa. These findings supported a diagnosis of congenital canine muscular dystrophy resembling Becker muscular dystrophy in man. Copyright © 2014 Elsevier Ltd. All rights reserved.

  6. [Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy].

    Science.gov (United States)

    Silva, Helga Cristina Almeida da; Hiray, Marcia; Vainzof, Mariz; Schmidt, Beny; Oliveira, Acary Souza Bulle; Amaral, José Luiz Gomes do

    2017-05-31

    Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L -1 (normal 174IU.L -1 ). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  7. Muscular atrophy in diabetic neuropathy

    DEFF Research Database (Denmark)

    Andersen, H; Gadeberg, P C; Brock, B

    1997-01-01

    Diabetic patients with polyneuropathy develop motor dysfunction. To establish whether motor dysfunction is associated with muscular atrophy the ankle dorsal and plantar flexors of the non-dominant leg were evaluated with magnetic resonance imaging in 8 patients with symptomatic neuropathy, in 8 non...... confirmed that the atrophy predominated distally. We conclude that muscular atrophy underlies motor weakness at the ankle in diabetic patients with polyneuropathy and that the atrophy is most pronounced in distal muscles of the lower leg indicating that a length dependent neuropathic process explains...

  8. Metabolismo muscular en el ejercicio

    OpenAIRE

    Martín Martín, Laura

    2017-01-01

    Fundamentos: Cada vez son más las personas que realizan algún tipo de actividad física, pero pocas son las que poseen un verdadero conocimiento de los procesos que se desencadenan a nivel muscular y la influencia de la alimentación en la misma. El objetivo de este trabajo es ofrecer información de manera general sobre el metabolismo muscular. Métodos: Revisión bibliográfica de artículos y documentos consultando bases de datos y libros. La mayor parte del análisis ha sido ext...

  9. Genetics Home Reference: spinal muscular atrophy

    Science.gov (United States)

    ... difficulty breathing. Children with this type often have joint deformities (contractures) that impair movement. In severe cases, ... Proximal spinal muscular atrophy Washington University, St. Louis: Neuromuscular Disease Center: Spinal Muscular Atrophy Patient Support and ...

  10. What Are the Types of Muscular Dystrophy?

    Science.gov (United States)

    ... muscular dystrophy? There are more than 30 forms of muscular dystrophy (MD), with information on the primary types included in the table below. 1 Duchenne (DMD) What It Is Common Symptoms How It ...

  11. Respiratory mechanics

    CERN Document Server

    Wilson, Theodore A

    2016-01-01

    This book thoroughly covers each subfield of respiratory mechanics: pulmonary mechanics, the respiratory pump, and flow. It presents the current understanding of the field and serves as a guide to the scientific literature from the golden age of respiratory mechanics, 1960 - 2010. Specific topics covered include the contributions of surface tension and tissue forces to lung recoil, the gravitational deformation of the lung, and the interdependence forces that act on pulmonary airways and blood vessels. The geometry and kinematics of the ribs is also covered in detail, as well as the respiratory action of the external and internal intercostal muscles, the mechanics of the diaphragm, and the quantitative compartmental models of the chest wall is also described. Additionally, flow in the airways is covered thoroughly, including the wave-speed and viscous expiratory flow-limiting mechanisms; convection, diffusion and the stationary front; and the distribution of ventilation. This is an ideal book for respiratory ...

  12. Respiratory symptoms of megaesophagus

    Directory of Open Access Journals (Sweden)

    Fabio Di Stefano

    2013-03-01

    Full Text Available Megaesophagus as the end result of achalasia is the consequence of disordered peristalsis and the slow decompensation of the esophageal muscular layer. The main symptoms of achalasia are dysphagia, regurgitation, chest pain and weight loss, but respiratory symptoms, such as coughing, particularly when patients lie in a horizontal position, may also be common due to microaspiration. A 70-year old woman suffered from a nocturnal cough and shortness of breath with stridor. She reported difficulty in swallowing food over the past ten years, but had adapted by eating a semi-liquid diet. Chest X-ray showed right hemithorax patchy opacities projecting from the posterior mediastinum. Chest computed tomography scan showed a marked dilatation of the esophagus with abundant food residues. Endoscopy confirmed the diagnosis of megaesophagus due to esophageal achalasia, excluding other causes of obstruction, such as secondary esophagitis, polyps, leiomyoma or leiomyosarcoma. In the elderly population, swallowing difficulties due to esophageal achalasia are often underestimated and less troublesome than the respiratory symptoms that are caused by microaspiration. The diagnosis of esophageal achalasia, although uncommon, should be considered in patients with nocturnal chronic coughs and shortness of breath with stridor when concomitant swallowing difficulties are present.

  13. Dysphagia in facioscapulohumeral muscular dystrophy.

    NARCIS (Netherlands)

    Wohlgemuth, M.; Swart, B.J.M. de; Kalf, J.G.; Joosten, F.B.M.; Vliet, A.M. van der; Padberg, G.W.A.M.

    2006-01-01

    Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The

  14. Glucocorticoids for Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-07-01

    Full Text Available Investigators at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, and other centers in the UK, conducted a prospective longitudinal study across 17 neuromuscular centers in the UK of 360 boys aged 3-15 years with Duchenne muscular dystrophy who were treated with daily or intermittent (10 days on/10 days off prednisolone for a mean duration of 4 years.

  15. BEEF CATTLE MUSCULARITY CANDIDATE GENES

    Directory of Open Access Journals (Sweden)

    Irida Novianti

    2010-04-01

    Full Text Available Muscularity is a potential indicator for the selection of more productive cattle. Mapping quantitative trait loci (QTL for traits related to muscularity is useful to identify the genomic regions where the genes affecting muscularity reside. QTL analysis from a Limousin-Jersey double backcross herd was conducted using QTL Express software with cohort and breed as the fixed effects. Nine QTL suggested to have an association with muscularity were identified on cattle chromosomes BTA 1, 2, 3, 4, 5, 8, 12, 14 and 17. The myostatin gene is located at the centromeric end of chromosome 2 and not surprisingly, the Limousin myostatin F94L variant accounted for the QTL on BTA2. However, when the myostatin F94L genotype was included as an additional fixed effect, the QTL on BTA17 was also no longer significant. This result suggests that there may be gene(s that have epistatic effects with myostatin located on cattle chromosome 17. Based on the position of the QTL in base pairs, all the genes that reside in the region were determined using the Ensembl data base (www.ensembl.org. There were two potential candidate genes residing within these QTL regions were selected. They were Smad nuclear interacting protein 1 (SNIP1 and similar to follistatin-like 5 (FSTL5. (JIIPB 2010 Vol 20 No 1: 1-10

  16. Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy

    Directory of Open Access Journals (Sweden)

    Montserrat Diaz-Abad

    2013-12-01

    Full Text Available X-linked spinobulbar muscular atrophy (Kennedy’s disease affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord. We present the case of a patient with X-linked spinobulbar muscular atrophy with rapidly worsening bulbar symptoms caused by laryngopharyngeal irritation associated with a viral upper respiratory tract infection, seasonal allergies and laryngopharyngeal reflux, who dramatically improved with multimodality therapy.

  17. Practical approach to management of respiratory complications in neurological disorders

    Directory of Open Access Journals (Sweden)

    Mangera Z

    2012-03-01

    Full Text Available Zaheer Mangera, Kirat Panesar, Himender MakkerRespiratory Medicine, North Middlesex University Hospital, London, UKAbstract: Patients with certain neurological diseases are at increased risk of developing chest infections as well as respiratory failure due to muscular weakness. In particular, patients with certain neuromuscular disorders are at higher risk. These conditions are often associated with sleep disordered breathing. It is important to identify patients at risk of respiratory complications early in the course of their disease, although patients with neuromuscular disorders often present in the acute setting with respiratory involvement. This review of the respiratory complications of neurological disorders, with a particular focus on neuromuscular disorders, explores why this happens and looks at how to recognize, investigate, and manage these patients effectively.Keywords: respiratory failure, respiratory muscle weakness

  18. Sarcopenia and sarcopenic obesity in patients with muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Luciano eMerlini

    2014-10-01

    Full Text Available Aging sarcopenia and muscular dystrophy are two conditions characterized by lower skeletal muscle quantity, lower muscle strength, and lower physical performance. Aging is associated with a peculiar alteration in body composition called sarcopenic obesity characterized by a decrease in lean body mass and increase in fat mass. To evaluate the presence of sarcopenia and obesity in a cohort of adult patients with muscular dystrophy we have used the measurement techniques considered golden standard for sarcopenia that is for muscle mass dual energy X-ray absorptiometry (DXA, for muscle strength hand held dynamometry, and for physical performance gait speed. The study involved 14 adult patients with different types of muscular dystrophy. We were able to demonstrate that all patient were sarcopenic-obese. We showed in fact that all were sarcopenic based on appendicular lean, fat & bone free, mass index (ALMI. In addition all resulted obese according to the % of body fat determined by DXA in contrast with their body mass index ranging from underweight to obese. Skeletal muscle mass determined by DXA was markedly reduced in all patients and correlated with residual muscle strength determined by hand held dynamometry, and physical performances determined by gait speed and respiratory function. Finally we showed that ALMI was the best linear explicator of muscle strength and physical function. Altogether, our study suggest the relevance of a proper evaluation of body composition in muscular dystrophy and we propose to use, both in research and practice, the measurement techniques that has already been demonstrated effective in aging sarcopenia.

  19. CT findings of muscular dystrophy

    International Nuclear Information System (INIS)

    Saitoh, Hiroshi

    1991-01-01

    CT scans of muscles in patients with limb girdle type (LG), myotonic type (MYD) and Duchenne type (DMD) dystrophies were obtained at five different body levels: the neck, L3 vertebral body, pelvic girdle, thigh and lower leg. CT numbers, cross sectional areas (CSA) and %CSA of muscle or fat were evaluated in each muscle. The characteristic CT patterns for each type of muscular dystrophy were obtained. Compared with DMD, the gracilis and soleus were more severely damaged in LG and the biceps femoris remained relatively preserved among the hamstrings. In addition, the multifidus of the neck and sternocleidomastoid also were more severely damaged in MYD. This study suggests that CT scan will be useful in the differential diagnosis of these types of muscular dystrophy as well as in planning appropriate rehabilitation and detecting damaged muscles. (author)

  20. A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

    Science.gov (United States)

    2018-04-17

    Muscular Dystrophies; Muscular Dystrophy, Duchenne; Muscular Disorders, Atrophic; Muscular Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn

  1. Lesiones musculares en el deporte. Muscular injuries in sport.

    Directory of Open Access Journals (Sweden)

    Jiménez Díaz, José Fernando

    2006-04-01

    Full Text Available ResumenDurante la práctica de la actividad física hay una gran incidencia de lesiones musculares, si bien se han llevado a cabo pocos estudios clínicos sobre el tratamiento y la resolución de las mismas. Desde el punto de vista etiopatogénico, hay que señalar que la incidencia de lesión es mayor en aquellos músculos poliarticulares en condiciones de acumulación de fatiga y con condiciones ambientales desfavorables. La clasificación de las lesiones musculares permite distinguir entre aquellas que no afectan a la fascia produciéndose un sangrado dentro del mismo (intramuscular o bien si la fascia también se rompe, el sangrado se sitúa entre los diferentes músculos (intermuscular. El tratamiento de estas lesiones se realizará combinando reposo, compresión, aplicación de frío y elevación del área lesionada así como el desarrollo de un adecuado programa de readaptación funcional que permita al jugador incorporarse lo antes posible a la dinámica del equipo. En la actualidad se está llevando a cabo opciones terapéuticas con factores de crecimiento, terapia génica y células madre, si bien todavía no están lo suficientemente desarrolladas.AbstractDuring the practice of the physical activity there is a great effect of muscular injuries, though few clinical studies have been carried out on the treatment and the resolution of the same ones. Inside the reasons it is necessary to indicate that the effect of injury is major in those muscles you will polyarticulate in situation of fatigue and with environmental unfavorable conditions.The classification of the muscular injuries allows to distinguish between those that do not affect the fascia producing the bled intramuscular or if the fascia also breaks, the bled one places between the different muscles (intermuscular.The treatment will be realized combining rest, compression, application of cold and elevation of these injuries as well as the development of a program of functional

  2. Influence of noninvasive ventilation by BiPAP® on exercise tolerance and respiratory muscle strength in chronic obstructive pulmonary disease patients (COPD Influencia de la ventilación no evasiva mediante el BiPAP® sobre la tolerancia al ejercicio físico y fuerza muscular respiratoria en pacientes con enfermedad pulmonar obstrutiva crónica (EPOC Influência da ventilação não invasiva por meio do BiPAP® sobre a tolerância ao exercício físico e força muscular respiratória em pacientes com doença pulmonar obstrutiva crônica (DPOC

    Directory of Open Access Journals (Sweden)

    Dirceu Costa

    2006-06-01

    Full Text Available This study aimed to assess the effect of BiPAP®, by nasal mask, on exercise tolerance and respiratory muscle strength in patients with a clinical and spirometric diagnosis of moderate/severe COPD (FEV1 El objetivo de esto estudio fue evaluar el efecto del BiPAP®, por medio de la máscara nasal, sobre la tolerancia al ejercicio físico y el desempeño muscular respiratorio en pacientes con diagnosis clínico y espirométrico de EPOC moderada/grave (VEF1 O objetivo deste estudo foi avaliar o efeito do BiPAP®, através de máscara nasal, na tolerância ao exercício físico e no desempenho muscular respiratório em pacientes com diagnóstico clínico e espirométrico de DPOC, moderado/grave (VEF1 < 60% do previsto. Com VEF1/CVF <70% do previsto e idade média de 59,4±8,9 anos, dez pacientes com doença pulmonar obstrutiva crônica (DPOC foram tratados com 30 minutos de BiPAP® (IPAP=10-15 e EPAP=4 cmH2O, em três sessões semanais, durante dois meses. Antes e após o tratamento mediu-se a espirometria, a força muscular inspiratória (PImax e expiratória (PEmax e a distância percorrida em seis minutos (TC6. Foram constatados aumentos significativos (Wilcoxon, p<0,05 na média da PImax (de -55±17 para -77±19 cmH2O, da PEmax (de 75±20 para 109±36 cmH2O e da distância percorrida (de 349±67 para 448±75 metros. Com base nesses resultados conclui-se que o BiPAP® melhorou o desempenho muscular respiratório e a tolerância ao exercício físico nesses pacientes com DPOC.

  3. [Two cases of Duchenne muscular dystrophy over 40 years after onset].

    Science.gov (United States)

    Ishizaki, Masatoshi; Ueyama, Hidetsugu; Masuda, Teruaki; Nishida, Yasuto; Imamura, Shigehiro; Ando, Yukio

    2013-01-01

    We report two 45 year old men with Duchenne muscular dystrophy. Case 1 showed a deleted exon 50 of the dystrophin gene by MLPA analysis, and Case 2 showed deleted exons 46-52. Both patients presented with severe weakness of the skeletal muscles and respiratory dysfunction, while cardiac involvement was mild and cognitive function was almost normal. The patients are able to shop at a mall, participate in activities, and attend hobbies, although they are bedridden with artificial respiration through tracheotomy. With the progress of the respiratory care and cardiac protective therapy, the prognosis of Duchenne muscular dystrophy has improved remarkably. At present, it is possible to survive over 40 years with maintenance of quality of life, if cardiac damage is not severe.

  4. Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.

    Science.gov (United States)

    Mori-Yoshimura, Madoka; Mitsuhashi, Satomi; Nakamura, Harumasa; Komaki, Hirofumi; Goto, Kanako; Yonemoto, Naohiro; Takeuchi, Fumi; Hayashi, Yukiko K; Murata, Miho; Takahashi, Yuji; Nishino, Ichizo; Takeda, Shin'ichi; Kimura, En

    2018-01-01

    Obtaining an adequate number of patients to conduct a natural history study for rare diseases such as Becker muscular dystrophy (BMD) is difficult. The present study used data from Remudy, a national registry for neuromuscular diseases in Japan, to conduct a phenotypic analysis of BMD. We analyzed Remudy data of participants with dystrophinopathy. All participants who were aged 17 and older and were ambulant at age 13 were included in this study. Participants were divided into two groups: those with BMD who were ambulant at age 17, and those with intermediate muscular dystrophy (IMD) who lost ambulation by age 17. Frequent mutations were analyzed by age at ambulation, cardiopulmonary function, and genotype. For clinical comparisons, participants who were administered steroids were excluded. From July 2009 through September 2015, 192 participants had registered with Remudy. Mean participant age was 34.80±13.3 (range, 17-78) years, and 52.1% of participants were ambulant. Of the entire study population, 50.5% had cardiomyopathy and 35.9% had respiratory failure. Three participants required invasive ventilation and 30 required non-invasive ventilation. Nineteen of the 30 non-invasive ventilator users were part-time users. In total, 138 (71.9%) had BMD and 54 (28.1%) had IMD. The most frequent mutation was ex45_ex47del (36 participants). Among participants with frequent in-frame mutations, those with the ex45-49del mutation lost their ambulation earlier than those with the ex45_ex47del mutation. A total of 67 different exon deletions and duplications were identified in the study population. We clarified the clinical phenotypes of Japanese patients with BMD/IMD using data from Remudy. Our results suggest that not only IMD but also BMD are associated with risk of respiratory dysfunction.

  5. Peripheral nerve blocks as the sole anesthetic technique in a patient with severe Duchenne muscular dystrophy.

    Science.gov (United States)

    Bang, Seung Uk; Kim, Yee Suk; Kwon, Woo Jin; Lee, Sang Mook; Kim, Soo Hyang

    2016-04-01

    General anesthesia and central neuraxial blockades in patients with severe Duchenne muscular dystrophy are associated with high risks of complications, including rhabdomyolysis, malignant hyperthermia, hemodynamic instability, and postoperative mechanical ventilation. Here, we describe peripheral nerve blocks as a safe approach to anesthesia in a patient with severe Duchenne muscular dystrophy who was scheduled to undergo surgery. A 22-year-old male patient was scheduled to undergo reduction and internal fixation of a left distal femur fracture. He had been diagnosed with Duchenne muscular dystrophy at 5 years of age, and had no locomotive capability except for that of the finger flexors and toe extensors. He had developed symptoms associated with dyspnea 5 years before and required intermittent ventilation. We blocked the femoral nerve, lateral femoral cutaneous nerve, and parasacral plexus under ultrasound on the left leg. The patient underwent a successful operation using peripheral nerve blocks with no complications. In conclusion general anesthesia and central neuraxial blockades in patients with severe Duchenne muscular dystrophy are unsafe approaches to anesthesia because of hemodynamic instability and respiratory depression. Peripheral nerve blocks are the best way to reduce the risks of critical complications, and are a safe and feasible approach to anesthesia in patients with severe Duchenne muscular dystrophy.

  6. Muscular Calf Injuries in Runners.

    Science.gov (United States)

    Fields, Karl B; Rigby, Michael D

    2016-01-01

    Calf pain is a common complaint among runners of all ages but is most frequent in masters athletes. This article focuses on injuries to the triceps surae or true 'calf muscles.' The most common calf injury is a tear of the medial gastrocnemius muscle (Tennis Leg) but other structures including the lateral gastrocnemius, plantaris and soleus also may be the cause of muscular pain. This article looks at the presentation, evaluation, and treatment of these injuries. We also highlight some examples of musculoskeletal ultrasound which is a valuable tool for rapid diagnosis of the cause and extent of injury.

  7. Genetics Home Reference: Duchenne and Becker muscular dystrophy

    Science.gov (United States)

    ... Conditions Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Printable PDF Open All Close All Enable Javascript ... dystrophy occur almost exclusively in males. Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused ...

  8. Descrição de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos New macular dystrophy associated with loose anagen hair syndrome

    Directory of Open Access Journals (Sweden)

    Mário Teruo Sato

    2002-03-01

    Full Text Available Objetivos: Descrever os achados oftalmológicos, dermatológicos e de microscopia óptica (MO e microscopia eletrônica de varredura (MEV de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos (SCAF. Métodos: Uma família de sete pacientes, quatro deles afetados, foi examinada. Os pacientes foram submetidos ao exame oftalmológico completo, teste de cores (Ishihara e Farnsworth D-15, ecografia, angiografia, exames laboratoriais e dermatológico, teste do suor, microscopia óptica e microscopia eletrônica de varredura dos fios de cabelo. Resultados: Em duas irmãs afetadas encontramos no fundo de olho dispersões pigmentares em pólo posterior da retina, com estafiloma da mácula. Em dois irmãos foram encontradas as mesmas dispersões pigmentares em pólo posterior, com maior pigmentação e coloração amarelada em área macular e sem estafiloma. A avaliação na microscopia óptica e microscopia eletrônica de varredura dos indivíduos afetados confirmou a SCAF. Em uma mulher e em um homem não afetados todos os exames foram normais, exceto que na MO e MEV encontramos algumas semelhanças com os indivíduos afetados. Quanto ao modo de herança, o heredograma é compatível com herança autossômica recessiva com expressão parcial no heterozigoto. Conclusões: Há somente um relato na literatura internacional da associação de SCAF e coloboma ocular. Neste trabalho descrevemos os achados de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos, distrofia cujos achados fundoscópicos são diferentes entre homens e mulheres. Por se tratar do primeiro relato na literatura, os achados descritos sugerem fortemente que esta associação pode ser parte de uma nova entidade nosológica.Purpose: To describe the ophthalmological, dermatological, light microscopy (LM and scanning electron microscopy (SEM findings of a new macular dystrophy associated with the loose anagen hair syndrome (LAHS. Methods: A

  9. Morphological and ultrastructural evaluation of the golden retriever muscular dystrophy trachea, lungs, and diaphragm muscle.

    Science.gov (United States)

    Lessa, Thais Borges; de Abreu, Dilayla Kelly; Rodrigues, Márcio Nogueira; Brólio, Marina Pandolphi; Miglino, Maria Angélica; Ambrósio, Carlos Eduardo

    2014-11-01

    Duchenne muscular dystrophy (DMD) is a genetic disease, characterized by atrophy and muscle weakness. The respiratory failure is a common cause of early death in patients with DMD. Golden retriever muscular dystrophy (GRMD) is a canine model which has been extensively used for many advances in therapeutics applications. As the patients with DMD, the GRMD frequently died from cardiac and respiratory failure. Observing the respiratory failure in DMD is one of the major causes of mortality we aimed to describe the morphological and ultrastructural data of trachea, lungs (conductive and respiratory portion of the system), and diaphragm muscle using histological and ultrastructural analysis. The diaphragm muscle showed discontinuous fibers architecture, with different diameter; a robust perimysium inflammatory infiltrate and some muscle cells displayed central nuclei. GRMD trachea and lungs presented collagen fibers and in addition, the GRMD lungs showed higher of levels collagen fibers that could limit the alveolar ducts and alveoli distension. Therefore, the most features observed were the collagen areas and fibrosis. We suggested in this study that the collagen remodeling in the trachea, lungs, and diaphragm muscle may increase fibrosis and affect the trachea, lungs, and diaphragm muscle function that can be a major cause of respiratory failure that occur in patients with DMD. © 2014 Wiley Periodicals, Inc.

  10. Becker muscular dystrophy: an unusual presentation.

    OpenAIRE

    Thakker, P B; Sharma, A

    1993-01-01

    A 15 year old boy who presented with passing painless dark urine was found to have myoglobinuria. His creatine phosphokinase was raised, and a muscle biopsy specimen showed non-specific dystrophic changes. Subsequent DNA analysis led to the diagnosis of Becker muscular dystrophy. Myoglobinuria may be a presenting symptom of Becker muscular dystrophy.

  11. Preimplantation genetic diagnosis of spinal muscular atrophy

    NARCIS (Netherlands)

    Dreesen, JCFM; Bras, M; de Die-Smulders, C; Dumoulin, JCM; Cobben, JM; Evers, JLH; Smeets, HJM; Geraedts, JPM

    After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly

  12. Roentgenological findings in muscular alterations of extremities

    International Nuclear Information System (INIS)

    Palvoelgyi, R.

    1978-01-01

    A survey of roentgenological findings in muscular alterations of extremities based on the author's experiences and on the literature is presented. Following a description of the normal roentgen anatomy, the alterations in different diseases of interstitial lipomatosis are demonstrated. By roentgenological examinations differt muscular lesions of the extremities can be differentiated and the clinical follow-up verified. (orig.) [de

  13. Respiratory Home Health Care

    Science.gov (United States)

    ... Us Home > Healthy Living > Living With Lung Disease > Respiratory Home Health Care Font: Aerosol Delivery Oxygen Resources ... Teenagers Living With Lung Disease Articles written by Respiratory Experts Respiratory Home Health Care Respiratory care at ...

  14. Duchenne and Becker muscular dystrophy in adolescents: current perspectives.

    Science.gov (United States)

    Andrews, Jennifer G; Wahl, Richard A

    2018-01-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives.

  15. Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Melinda F. Davis

    2010-10-01

    Full Text Available Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy, respiratory equipment (assisted ventilation, cough assist devices, and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds. The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI: 10.2458/azu_jmmss.v1i1.76

  16. Drugs in development and dietary approach for Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Angelini C

    2015-08-01

    Full Text Available Corrado Angelini, Elisabetta Tasca Neuromuscular Laboratory, Fondazione San Camillo Hospital IRCCS, Venice, Italy Abstract: Therapeutic trials studying Duchenne muscular dystrophy (DMD in Europe and the USA have been done using a protocol that includes manual muscle testing and functional testing, and have shown the efficacy of steroid drugs in various doses and regimens. Further, drisapersen and eteplirsen (exon skipping drugs and ataluren (a drug to overcome stop codon mutations have achieved some clinical improvement. Cardioprotective drugs are efficacious in DMD, and eplerenone, an aldosterone inhibitor and diuretic, is now being used to treat the disease. The dietary approach should be used in wheelchair-bound DMD children in combination with respiratory assistance. The importance of some of the treatments proposed is that they might also be useful in other genetic disorders where stop codon mutations are present; moreover, it is possible that these new treatments will improve quality of life for many patients. Keywords: Duchenne muscular dystrophy, steroids, ataluren, drisapersen, eplerenone, eteplirsen

  17. Duchenne and Becker muscular dystrophy in adolescents: current perspectives

    Science.gov (United States)

    Andrews, Jennifer G; Wahl, Richard A

    2018-01-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of which manifest during adolescence. BMD is a milder presentation of the condition and much less prevalent than DMD, making it less represented in the literature, or more severely affected individuals with BMD may be subsumed into the DMD population using clinical cutoffs. Numerous consensus documents have been published on the clinical management of DMD, the most recent of which was released in 2010. The advent of these clinical management consensus papers, particularly respiratory care, has significantly increased the life span for these individuals, and the adolescent years are now a point of transition into adult lives, rather than a period of end of life. This review outlines the literature on DMD and BMD during adolescence, focusing on clinical presentation during adolescence, impact of living with a chronic illness on adolescents, and the effect that adolescents have on their chronic illness. In addition, we describe the role that palliative-care specialists could have in improving outcomes for these individuals. The increasing proportion of individuals with DMD and BMD living into adulthood underscores the need for more research into interventions and intracacies of adolescence that can improve the social aspects of their lives. PMID:29588625

  18. Subxyphoid pleural drain confers lesser impairment in respiratory muscle strength, oxygenation and lower chest pain after off-pump coronary artery bypass grafting: a randomized controlled trial Dreno pleural subxifoide confere menor comprometimento da força muscular respiratória, oxigenação e menor dor torácica após cirurgia de revascularização do miocárdio sem circulação extracorpórea: estudo controlado randomizado

    Directory of Open Access Journals (Sweden)

    Andreia S. A. Cancio

    2012-03-01

    Full Text Available OBJECTIVE: To evaluate respiratory muscle strength, oxygenation and chest pain in patients undergoing off-pump coronary artery bypass (OPCAB using internal thoracic artery grafts comparing pleural drain insertion site at the subxyphoid region versus the lateral region. METHODS: Forty patients were randomized into two groups in accordance with the pleural drain site. Group II (n = 19 -pleural drain exteriorized in the intercostal space; group (SI (n = 21 chest tube exteriorized at the subxyphoid region. All patients underwent assessment of respiratory muscle strength (inspiratory and expiratory on the pre, 1, 3 and 5 postoperative days (POD. Arterial blood gas analysis was collected on the pre and POD1. The chest pain sensation was measured 1, 3 and 5 POD. RESULTS: A significant decrease in respiratory muscle strength (inspiratory and expiratory was seen in both groups until POD5 (P OBJETIVO: Avaliar a força muscular respiratória, oxigenação e dor torácica em pacientes submetidos à cirurgia de revascularização miocárdica (RM sem circulação extracorpórea (CEC comparando o local de inserção do dreno pleural na região subxifoidea versus lateral. MÉTODOS: Quarenta pacientes foram randomizados em dois grupos Grupo (II - n = 19 - dreno pleural exteriorizado na região intercostal; Grupo (SI - n = 21 dreno pleural exteriorizado na região subxifoidea. Os pacientes foram submetidos à avaliação da força muscular respiratória no pré, 1º, 3ºe 5º dias de pós-operatório (PO. Gasometria arterial foi coletada no pré e 1º dia do PO. A dor torácica foi avaliada no 1º, 3º e 5º dias de PO. RESULTADOS: Ambos os grupos apresentaram diminuição significante da força muscular respiratória até o quinto dia do PO (P <0,05. A diferença entre os grupos manteve-se significante com maior decréscimo no grupo II (P <0,05. Houve queda na pressão arterial de oxigênio em ambos os grupos (P <0,05, mas quando comparado à queda foi maior no

  19. Progressive muscular dystrophy: Duchenne type. Controversies of the kinesitherapy treatment

    Directory of Open Access Journals (Sweden)

    Ana Valéria de Araujo Leitão

    Full Text Available The authors carried out a study of children with progressive muscular dystrophy of Duchenne type (DMD, giving special attention to physiatrical follow-up, having in mind that the practice of exercises has been debated very much in the specialized literature. The goal of this study is to try to settle the limits for the utilization of kinesitherapy which should be applied only in specific situations, such as: after skeletal muscular trauma or when the respiratory system is at risk. In this situation the physiatrical procedure would be to restrict physical activity, with early use of wheelchairs and the exclusion of the use of orthoses for orthostatism. DMD, at present, has been considered a result of duplication (60%, deletion (5 to 6% or point mutations at gen Xp21 (Zatz, 1994, that codifies a protein called Dystrophin ( Hoffman et al., 1987. Dystrophin is a cytoskeletal sarcolemmic protein that constitutes about .002% of the total protein of the muscle, present in skeletal fibers concentrated in muscle tendinous joints, which supplies mechanical reinforcement to the surface of the membrane during stretching and shortening physical activity. This protein is absent in DMD cases, wherefore, the sarcolemma undergoes a segmentary necrosis losing its contractile property during eccentric and concentric physical activity. The importance of physiatrical follow-up for DMD patients is to avoid deformities and tendon shortening, to ameliorate the patient's quality of life, to provide respiratory assistance and general couseling to members of the patient's family. The objective of this study is to try to clarify the risks and possibilities of kinesitherapy applied to DMD cases.

  20. Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy,

    Directory of Open Access Journals (Sweden)

    Tanyse Bahia Carvalho Marques

    2014-10-01

    Full Text Available OBJECTIVE: Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease (NMD. The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA and in patients with congenital muscular dystrophy (CMD, as well as to identify associations between spinal deformities and the effects of the maneuvers. METHODS: Eighteen NMD patients (ten with CMD and eight with SMA were submitted to routine daily air-stacking maneuvers at home with manual resuscitators for four to six months, undergoing pulmonary function tests before and after that period. The pulmonary function tests included measurements of FVC; PEF; maximum insufflation capacity (MIC; and assisted and unassisted peak cough flow (APCF and UPCF, respectively with insufflations. RESULTS: After the use of home air-stacking maneuvers, there were improvements in the APCF and UPCF. In the patients without scoliosis, there was also a significant increase in FVC. When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis. CONCLUSIONS: Routine daily air-stacking maneuvers with a manual resuscitator appear to increase UPCF and APCF in patients with NMD, especially in those without scoliosis.

  1. Ventilatory chemosensory drive is blunted in the mdx mouse model of Duchenne Muscular Dystrophy (DMD.

    Directory of Open Access Journals (Sweden)

    Matias Mosqueira

    Full Text Available Duchenne Muscular Dystrophy (DMD is caused by mutations in the DMD gene resulting in an absence of dystrophin in neurons and muscle. Respiratory failure is the most common cause of mortality and previous studies have largely concentrated on diaphragmatic muscle necrosis and respiratory failure component. Here, we investigated the integrity of respiratory control mechanisms in the mdx mouse model of DMD. Whole body plethysmograph in parallel with phrenic nerve activity recordings revealed a lower respiratory rate and minute ventilation during normoxia and a blunting of the hypoxic ventilatory reflex in response to mild levels of hypoxia together with a poor performance on a hypoxic stress test in mdx mice. Arterial blood gas analysis revealed low PaO2 and pH and high PaCO2 in mdx mice. To investigate chemosensory respiratory drive, we analyzed the carotid body by molecular and functional means. Dystrophin mRNA and protein was expressed in normal mice carotid bodies however, they are absent in mdx mice. Functional analysis revealed abnormalities in Dejours test and the early component of the hypercapnic ventilatory reflex in mdx mice. Together, these results demonstrate a malfunction in the peripheral chemosensory drive that would be predicted to contribute to the respiratory failure in mdx mice. These data suggest that investigating and monitoring peripheral chemosensory drive function may be useful for improving the management of DMD patients with respiratory failure.

  2. Palliative care in children with spinal muscular atrophy type I: What do they need?

    Science.gov (United States)

    García-Salido, Alberto; de Paso-Mora, María García; Monleón-Luque, Manuel; Martino-Alba, Ricardo

    2015-04-01

    Our aim was to describe the clinical evolution and needs of children with spinal muscular atrophy type I treated in a domiciliary palliative care program. We undertook a retrospective chart review of nine consecutive patients. Descriptions of the clinical and demographic profile of children with spinal muscular atrophy (SMA) type I were referred to a pediatric palliative care team (PPCT). Six males and three females were admitted to the PPCT, all before six months of age, except for one afflicted with SMA type I with respiratory distress. The median time of attention was 57 days (range 1-150). The domiciliary attention mainly consisted of respiratory care. The patient with SMA type I with respiratory distress required domiciliary mechanical ventilation by tracheotomy. In all cases, a nasogastric tube (NT) was indicated. As end-of-life care, eight required morphine to manage the dyspnea, four received it only by enteral (oral or NT) administration, and four received it first by enteral administration with continuous subcutaneous infusion (CSI) later. Three of the four patients with CSI also received benzodiazepines. While they were attended by the PPCT, none required hospital admission. All the patients died at home except for the one attended to for just one day. Domiciliary care for these patients is possible. The respiratory morbidity and its management are the main issues. Application of an NT is useful to maintain nutritional balance. Morphine administration is necessary to manage the dyspnea. Palliative sedation is not always necessary.

  3. Structural Organization of Muscular Elements of a Skin-Muscular Sac of Trematodes: Literature Survey

    OpenAIRE

    Kanat Kambarovich Akhmetov; Irina Yurievna Chidunchi

    2015-01-01

    The issue of structural organization of muscular elements of a trematodes’ skin-muscular sac is considered in the study. Special attention is paid to an analysis of materials of preceding researches, study of foreign authors and also to additional literature reflecting peculiarities of structure of a trematodes’ body muscular system. The stated issue is insufficiently studied and calls for further researches. A comparative analysis of places of trematodes’ localization, taking into considerat...

  4. An unusual variant of Becker muscular dystrophy

    NARCIS (Netherlands)

    de Visser, M.; Bakker, E.; Defesche, J. C.; Bolhuis, P. A.; van Ommen, G. J.

    1990-01-01

    We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed

  5. Physical Therapy and Facioscapulohumeral Muscular Dystrophy (FSHD)

    Science.gov (United States)

    Physical Therapy & FSHD Facioscapulohumeral Muscular Dystrophy A Guide for Patients & Physical Therapists Authors: Wendy M. King, P.T., Assistant ... Shree Pandya, P.T., M.S., Assistant Professor, Neurology & Physical Medicine and Rehabilitation A publication of the FSH ...

  6. How Do People Cope with Muscular Dystrophy?

    Science.gov (United States)

    ... topic are answered in this section. How do people cope with muscular dystrophy (MD)? Although MD presents ... improve health and quality of life. Almost all people with any form of MD experience a worsening ...

  7. Muscular Oxygen Uptake Kinetics in Aged Adults.

    Science.gov (United States)

    Koschate, J; Drescher, U; Baum, K; Eichberg, S; Schiffer, T; Latsch, J; Brixius, K; Hoffmann, U

    2016-06-01

    Pulmonary oxygen uptake (V˙O2) kinetics and heart rate kinetics are influenced by age and fitness. Muscular V˙O2 kinetics can be estimated from heart rate and pulmonary V˙O2. In this study the applicability of a test using pseudo-random binary sequences in combination with a model to estimate muscular V˙O2 kinetics was tested. Muscular V˙O2 kinetics were expected to be faster than pulmonary V˙O2 kinetics, slowed in aged subjects and correlated with maximum V˙O2 and heart rate kinetics. 27 elderly subjects (73±3 years; 81.1±8.2 kg; 175±4.7 cm) participated. Cardiorespiratory kinetics were assessed using the maximum of cross-correlation functions, higher maxima implying faster kinetics. Muscular V˙O2 kinetics were faster than pulmonary V˙O2 kinetics (0.31±0.1 vs. 0.29±0.1 s; p=0.004). Heart rate kinetics were not correlated with muscular or pulmonary V˙O2 kinetics or maximum V˙O2. Muscular V˙O2 kinetics correlated with maximum V˙O2 (r=0.35; p=0.033). This suggests, that muscular V˙O2 kinetics are faster than estimates from pulmonary V˙O2 and related to maximum V˙O2 in aged subjects. In the future this experimental approach may help to characterize alterations in muscular V˙O2 under various conditions independent of motivation and maximal effort. © Georg Thieme Verlag KG Stuttgart · New York.

  8. Radiographic features of Golden Retriever muscular dystrophy.

    Science.gov (United States)

    Brumitt, Jason W; Essman, Stephanie C; Kornegay, Joe N; Graham, John P; Weber, William J; Berry, Clifford R

    2006-01-01

    Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic abnormalities included diaphragmatic asymmetry (18/26), diaphragmatic undulation (18/26), and gastro-esophageal hiatal hernia (6/26). Pelvic abnormalities included narrowing of the body of the ilia (14/19), ventral deviation and curvature of the tuber ischii (14/19), elongation of the obturator foramen with a decrease in opacity of the surrounding bone (12/19), and lateral flaring of the wings of the ilia (12/19). Abdominal abnormalities consisted of hepatomegaly (14/22) and poor serosal detail (12/22). The unique thoracic abnormalities were a consistent finding in affected Golden Retriever muscular dystrophy dogs. The diagnosis of muscular dystrophy should be included in the differential list if the combination of diaphragm undulation and asymmetry, and gastro-esophageal hiatal hernia are identified. These diaphragmatic abnormalities are related to hypertrophy and hyperplasia of the diaphragm. Additionally, the skeletal changes of pelvic tilt, elongation of the pelvis, widening of the obturator foramina and thinning of the ischiatic tables appear to be specific to Golden Retriever muscular dystrophy in dogs. These pelvic abnormalities are most likely secondary to bone remodeling associated with the progressive skeletal myopathy and subsequent contracture/fibrosis.

  9. Spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Lieberman, Andrew P

    2018-01-01

    Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor. That SBMA exclusively affects males reflects the fact that critical pathogenic events are hormone-dependent. These include translocation of the polyglutamine androgen receptor from the cytoplasm to the nucleus and unfolding of the mutant protein. Studies of the pathology of SBMA subjects have revealed nuclear aggregates of the mutant androgen receptor, loss of lower motor neurons in the brainstem and spinal cord, and both neurogenic and myopathic changes in skeletal muscle. Mechanisms underlying disease pathogenesis include toxicity in both lower motor neurons and skeletal muscle, where effects on transcription, intracellular transport, and mitochondrial function have been documented. Therapies to treat SBMA patients remain largely supportive, although experimental approaches targeting androgen action or promoting degradation of the mutant androgen receptor protein or the encoding RNA are under active study. Copyright © 2018 Elsevier B.V. All rights reserved.

  10. Lungs and Respiratory System

    Science.gov (United States)

    ... Videos for Educators Search English Español Lungs and Respiratory System KidsHealth / For Parents / Lungs and Respiratory System ... ll have taken at least 600 million breaths. Respiratory System Basics All of this breathing couldn't ...

  11. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  12. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Thune, Jens Jakob; Køber, Lars

    2008-01-01

    OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology...

  13. Health services received by individuals with duchenne/becker muscular dystrophy.

    Science.gov (United States)

    Pandya, Shree K; Campbell, Kim A; Andrews, Jennifer G; Meaney, F John; Ciafaloni, Emma

    2016-02-01

    Anecdotal reports from families and care providers suggest a wide variation in services received by individuals with Duchenne/Becker muscular dystrophy (DBMD). We documented the type and frequency of health services received by individuals with DBMD using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) interview data released in June 2012. Interviews with eligible caregivers from 5 sites (Arizona, Colorado, Georgia, Iowa, and western New York) were conducted from April 2007 to March 2012. Two hundred ninety-six caregivers (66% of those contactable) participated in the interview. There were significant differences among sites in the specialists seen and services received. Concurrence with cardiac recommendations was higher than that with respiratory recommendations. The results of this survey support and quantify the anecdotal reports from families and care providers regarding the disparities in services received by individuals with DBMD. It remains to be determined whether these differences affect outcomes. © 2015 Wiley Periodicals, Inc.

  14. Effect of cellular therapy in progression of Becker’s muscular dystrophy: a case study

    Directory of Open Access Journals (Sweden)

    Alok Sharma

    2016-03-01

    Full Text Available Becker muscular dystrophy (BMD is an inherited disorder due to deletions of the dystrophin gene that leads to muscle weakness. Effects of bone marrow mononuclear cell (BMMNC transplantation in Muscular Dystrophy have shown to be safe and beneficial. We treated a 20-year-old male suffering from BMD with autologous BMMNC transplantation followed by multidisciplinary rehabilitation. He presented with muscle weakness and had difficulty in performing his activities. The BMMNCs were transplanted via intrathecal and intramuscular routes. The effects were measured on clinical and functional changes. Over 9 months, gradual improvement was noticed in muscle strength, respiratory functions and North Star Ambulatory Assessment Scale. Functional Independence Measure, Berg Balance Score, Brooke and Vignos Scale remained stable indicating halting of the progression. The case report suggests that cellular therapy combined with rehabilitation may have possibility of repairing and regenerating muscle fibers and decreasing the rate of progression of BMD.

  15. Muscular cystic hydatidosis: case report

    Directory of Open Access Journals (Sweden)

    Naspetti Riccardo

    2007-03-01

    Full Text Available Abstract Background Hydatidosis is a zoonosis caused by Echinococcus granulosus, and ingesting eggs released through the faeces from infected dogs infects humans. The location of the hydatid cysts is mostly hepatic and/or pulmonary, whereas musculoskeletal hydatidosis is very rare. Case presentation We report an unusual case of primary muscular hydatidosis in proximity of the big adductor in a young Sicilian man. The patient, 34 years old, was admitted to the Department of Infectious and Tropical Diseases for ultrasonographic detection, with successive confirmation by magnetic resonance imaging, of an ovular mass (13 × 8 cm in the big adductor of the left thigh, cyst-like, and containing several small cystic formations. Serological tests for hydatidosis gave negative results. A second drawing of blood was done 10 days after the first one and showed an increase in the antibody titer for hydatidosis. The patient was submitted to surgical excision of the lesion with perioperatory prophylaxis with albendazole. The histopathological examination of the bioptic material was not diriment in the diagnosis, therefore further tests were performed: additional serological tests for hydatidosis for the evaluation of IgE and IgG serotype (Western Blot and REAST, and molecular analysis of the excised material. These more specific serological tests gave positive results for hydatidosis, and the sequencing of the polymerase chain reaction products from the cyst evidenced E. granulosus DNA, genotype G1. Any post-surgery complications was observed during 6 following months. Conclusion Cystic hydatidosis should always be considered in the differential diagnosis of any cystic mass, regardless of its location, also in epidemiological contests less suggestive of the disease. The diagnosis should be achieved by taking into consideration the clinical aspects, the epidemiology of the disease, the imaging and immunological tests but, as demonstrated in this case, without

  16. Poison hemlock-induced respiratory failure in a toddler.

    Science.gov (United States)

    West, Patrick L; Horowitz, B Zane; Montanaro, Marc T; Lindsay, James N

    2009-11-01

    The ingestion of poison hemlock, or Conium maculatum, is described in a 2-year-old boy. He had the onset of abdominal pain and weakness after being fed C. maculatum picked by his sister from the roadside 2 hours earlier. He had a rapidly progressive muscular weakness and was intubated for respiratory failure. His symptoms completely resolved within 24 hours of the ingestion. Conium maculatum is a common weed that causes toxicity by its primary toxin, coniine, which stimulates nicotinic receptors and causes a syndrome of rapidly progressive muscle weakness and paralysis. We describe the course of a benign-appearing plant ingestion resulting in respiratory failure.

  17. Cardiac function associated with home ventilator care in Duchenne muscular dystrophy.

    Science.gov (United States)

    Lee, Sangheun; Lee, Heeyoung; Eun, Lucy Youngmin; Gang, Seung Woong

    2018-02-01

    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. We retrospectively reviewed patients with Duchenne muscular dystrophy from January 2010 to March 2016 at Gangnam Severance Hospital. Demographic characteristics, pulmonary function, and echocardiography data were investigated. Fifty-four patients with Duchenne muscular dystrophy were divided into 2 groups: home ventilator-assisted and non-ventilator-assisted. The patients in the home ventilator group were older (16.25±1.85 years) than those in the nonventilator group (14.73±1.36 years) ( P =0.001). Height, weight, and body surface area did not differ significantly between groups. The home ventilator group had a lower seated functional vital capacity (1,038±620.41 mL) than the nonventilator group (1,455±603.12 mL). Mean left ventricular ejection fraction and fractional shortening were greater in the home ventilator group, but the data did not show any statistical difference. The early ventricular filling velocity/late ventricular filling velocity ratio (1.7±0.44) was lower in the home ventilator group than in the nonventilator group (2.02±0.62). The mitral valve annular systolic velocity was higher in the home ventilator group (estimated β, 1.06; standard error, 0.48). Patients with Duchenne muscular dystrophy on a ventilator may have better systolic and diastolic cardiac functions. Noninvasive ventilator assistance can help preserve cardiac function. Therefore, early utilization of noninvasive ventilation or oxygen may positively influence cardiac function in patients with Duchenne muscular dystrophy.

  18. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  19. [Human myopathy and animal muscular dystrophy].

    Science.gov (United States)

    Schapira, G; Dreyfus, J C; Schapira, F

    1977-08-01

    Two hereditary muscular dystrophies similar to human progressive muscular dystrophy (P.M.D. Duchenne type) have been isolated in animals, one in mouse, the other in chicken. The decrease in the activity of glycogenolytic enzymes is similar to that observed in denervated muscle. Isozymic fetal types for several muscular enzymes have been observed as well in chicken as in man, but this fetal type may also be found in neurogenic atrophy. The release in circulation of muscle enzymes seems more specific. But the origin of the genetic lesion is still unknown. We describe here the three different theories about this problem: i.e. neurogenic, vascular, or myogenic. This last theory implies a trouble of membrane permeability.

  20. Mitochondrial disorders in progressive muscular dystrophies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of different progressive muscular dystrophies. It describes changes in Duchenne, limb-girdle, facial scapulohumeral (Landuzi—Degerina muscular dystrophies. The review is based on both clinical and experimental animal studies. Along with the implication of mitochondria in the pathogenesis of the diseases, it describes muscular dystrophy treatment options compensating for energy disorders and overcoming oxidative stress and mitochondrial dysfunction. Mitochondrial studies in different muscle diseases hand physicians treatment modalities that fail to lead to recovery, but compensate for disorders caused by mutations in the genetic apparatus. 

  1. Muscular pathology: echographic and NMR imaging aspects

    International Nuclear Information System (INIS)

    Pascal-Suisse, P.; Beaurain, P.; Mougniot, C.

    1995-01-01

    A comparison of echographic techniques and NMR imaging has been done for the diagnosis of muscular trauma and tumor pathologies. In traumatic pathology, the echographic analysis allows to determine the complete assessment of recent muscular injuries. NMR imaging can be used in granuloma or fibrous callosity appreciation and for the analysis of deep injury (muscles and muscles-tendon junctions) and of muscular aponeurosis. Echography must be used together with color coding Doppler technique in the diagnosis of tumor pathology and for the study of slow fluxes. The recently available energy Doppler technique seems to be powerful in the study of vascularization of small expansive formations, but their extension to adjacent bone or tissue can only be appreciated using NMR imaging. (J.S.)

  2. Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

    Science.gov (United States)

    ... myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... boxes. Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

  3. Muscular Imbalance Correction in the Power Fitness Training

    OpenAIRE

    Olga E. Aftimichuk; Alexander V. Varvarich

    2013-01-01

    Muscular imbalance is one of the manifestations of pathological-biomechanical changes in muscular-skeletal system. It is the result of tonus-power imbalance of short and relaxed muscles. Muscle shortening is the most striking sign of muscular imbalance. Hypodynamia and passive lifestyle can cause such results. The paper justifies the experimental technique of women muscular imbalances correction by means of power training. Selection of exercises, weights and machines was made, taking into acc...

  4. Cardiomyopathy in becker muscular dystrophy: Overview.

    Science.gov (United States)

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-06-26

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  5. A Drosophila model for Duchenne muscular dystrophy

    NARCIS (Netherlands)

    Plas, Mariska Cathelijne van der

    2008-01-01

    Duchenne Muscular Dystrophy (DMD) is a severe X-linked disease characterized by progressive muscle wasting and sometimes mild mental retardation. The disease is caused by mutations in the dystrophin gene. DMD is correlated with the absence of Dp427, which is located along the sarcolemma in skeletal

  6. Duchenne muscular dystrophy models show their age

    OpenAIRE

    Chamberlain, Jeffrey S.

    2010-01-01

    The lack of appropriate animal models has hampered efforts to develop therapies for Duchenne muscular dystrophy (DMD). A new mouse model lacking both dystrophin and telomerase (Sacco et al., 2010) closely mimics the pathological progression of human DMD and shows that muscle stem cell activity is a key determinant of disease severity.

  7. Visuospatial Attention Disturbance in Duchenne Muscular Dystrophy

    Science.gov (United States)

    De Moura, Maria Clara Drummond Soares; do Valle, Luiz Eduardo Ribeiro; Resende, Maria Bernadete Dutra; Pinto, Katia Osternack

    2010-01-01

    Aim: The cognitive deficits present in the Duchenne muscular dystrophy (DMD) are not yet well characterized. Attention, considered to be the brain mechanism responsible for the selection of sensory stimuli, could be disturbed in DMD, contributing, at least partially, to the observed global cognitive deficit. The aim of this study was to…

  8. Brain Function in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2002-02-01

    Full Text Available The role of dystrophin disorders in the CNS function of boys with Duchenne muscular dystrophy (DMD and the dystrophin-deficient mdx mouse, an animal model of DMD, is reviewed at the University of New South Wales, University of Sydney, Australia.

  9. Duchenne muscular dystrophy - a molecular service

    African Journals Online (AJOL)

    In 1987 a carrier detection and prenatal diagnostic service for. Duchenne muscular dystrophy using molecular technology was instituted at the Department of Human Genetics, Uni- versity of Cape Town, to serve affe.cted families in southern. Africa. DNA samples from 100 affected male subjects and. 350 of their relatives ...

  10. Skull development in the muscular dystrophic mouse

    DEFF Research Database (Denmark)

    Vilmann, H; Kirkeby, S; Moss, M L

    1989-01-01

    Roentgencephalometric tracings of skulls of 7-week-old normal and muscular dystrophic mice were compared. A marked size reduction of the dystrophic skulls relative to the normal ones was observed. However, the visceral parts of the dystrophic skull were more reduced in size than the neural parts....

  11. Hereditary muscular dystrophies and the heart

    NARCIS (Netherlands)

    Hermans, M. C. E.; Pinto, Y. M.; Merkies, I. S. J.; de Die-Smulders, C. E. M.; Crijns, H. J. G. M.; Faber, C. G.

    2010-01-01

    Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process. The incidence and nature of cardiac involvement vary with different

  12. Cardiac involvement in children with neuro-muscular disorders

    Directory of Open Access Journals (Sweden)

    E. N. Arkhipova

    2015-01-01

    Full Text Available Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies. Dilated cardiomyopathy, ventricular arrhythmias, atrial fibrillations, atrioventricular and intraventricular conduction abnormalities, and sudden cardiac death are well known pathological findings in Duchenne muscular dystrophies, myotonic dystrophy type I and 2, Emery-Dreifuss muscular dystrophies and different types of limb-girdle muscular dystrophies and other disorders. Detection of cardiac pathology in patients with different muscular dystrophies is possible with ECG, echocardiography and cardiovascular magnetic resonance imaging, which are recommended for screening and early cardioprotective treatment.

  13. The respiratory microbiome and respiratory infections

    NARCIS (Netherlands)

    Unger, Stefan A.; Bogaert, Debby

    2017-01-01

    Despite advances over the past ten years lower respiratory tract infections still comprise around a fifth of all deaths worldwide in children under five years of age with the majority in low- and middle-income countries. Known risk factors for severe respiratory infections and poor chronic

  14. Respiratory Syncytial Virus

    Science.gov (United States)

    ... with facebook share with twitter share with linkedin Respiratory Syncytial Virus (RSV) Credit: CDC This is the ... the United States. Why Is the Study of Respiratory Syncytial Virus (RSV) a Priority for NIAID? In ...

  15. Respiratory syncytial virus (RSV)

    Science.gov (United States)

    RSV; Palivizumab; Respiratory syncytial virus immune globulin; Bronchiolitis - RSV ... Crowe JE. Respiratory syncytial virus. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ...

  16. Respiratory Issues in OI

    Science.gov (United States)

    Respiratory Issues in Osteogenesis Imperfecta \\ Introduction The respiratory system’s job is to bring oxygen into the body and remove carbon dioxide, the waste product of breathing. Because oxygen is the fuel ...

  17. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  18. Upper respiratory tract (image)

    Science.gov (United States)

    The major passages and structures of the upper respiratory tract include the nose or nostrils, nasal cavity, mouth, throat (pharynx), and voice box (larynx). The respiratory system is lined with a mucous membrane that ...

  19. Avian respiratory system disorders

    Science.gov (United States)

    Olsen, Glenn H.

    1989-01-01

    Diagnosing and treating respiratory diseases in avian species requires a basic knowledge about the anatomy and physiology of this system in birds. Differences between mammalian and avian respiratory system function, diagnosis, and treatment are highlighted.

  20. Severe metabolic acidosis in adult patients with Duchenne muscular dystrophy.

    Science.gov (United States)

    Lo Cascio, Christian M; Latshang, Tsogyal D; Kohler, Malcolm; Fehr, Thomas; Bloch, Konrad E

    2014-01-01

    Duchenne muscular dystrophy (DMD) leads to progressive paresis, respiratory failure and premature death. Long-term positive pressure ventilation can improve quality of life and survival, but previously unrecognized complications may arise. We analyzed the characteristics of severe metabolic acidosis occurring in 8 of 55 DMD patients, of 20-36 years of age, observed over a 5-year period. All patients were on positive pressure ventilation and were being treated for chronic constipation. Before admission, they had had a reduced intake of fluids and food. Upon examination, they were severely ill, dyspneic and suffering from abdominal discomfort. Metabolic acidosis with a high anion gap was noted in 5 of the 8 patients and with a normal anion gap in the other 3. They all recovered after the administration of fluids and nutrition, the regulation of bowel movements and treatment with antibiotics, as appropriate. Metabolic acidosis is a life-threatening, potentially preventable complication in older DMD patients. Early recognition, subsequent administration of fluids, nutrition and antibiotics and regulation of bowel movements seem to be essential. © 2014 S. Karger AG, Basel.

  1. Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Saif Ahmad

    2016-01-01

    Full Text Available Spinal muscular atrophy (SMA is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal muscle atrophy followed by symmetric limb paralysis, respiratory failure, and death. In humans, mutation of the Survival Motor Neuron 1 (SMN1 gene shifts the load of expression of SMN protein to the SMN2 gene that produces low levels of full-length SMN protein because of alternative splicing, which are sufficient for embryonic development and survival but result in SMA. The molecular mechanisms of the (a regulation of SMN gene expression and (b degeneration of motor neurons caused by low levels of SMN are unclear. However, some progress has been made in recent years that have provided new insights into understanding of the cellular and molecular basis of SMA pathogenesis. In this review, we have briefly summarized recent advances toward understanding of the molecular mechanisms of regulation of SMN levels and signaling mechanisms that mediate neurodegeneration in SMA.

  2. A study of atriphos (ATP) action on muscular circulation in progressive muscular dystrophy by the radioactive xenon clearance technique

    International Nuclear Information System (INIS)

    Chakyrov, B.; Samardzhiev, A.

    1977-01-01

    The effect of intramuscularly and intravenously adminostered atriphos on the muscular circulation was studied with radioactive xenon in 12 children with progressive muscular dystrophy. After combined local intramuscular injection of ATP (atriphos) with the radioactive marker a 12-fold increment of muscular circulation ensues, lasting about 15 minutes. No vasodilatating effect on the muscular flow was oberved after intravenous injection of 20-40 mg of atriphos. It is believed that intramuscular administration of atriphos produced dilatation of capillaries and of the venous part of the muscular circulation. (author)

  3. Genetics Home Reference: myotonia congenita

    Science.gov (United States)

    ... Manual Consumer Version: Congenital Myopathies Orphanet: Thomsen and Becker disease Patient Support and Advocacy Resources (3 links) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource ...

  4. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  5. Severe acute respiratory syndrome (SARS)

    Science.gov (United States)

    SARS; Respiratory failure - SARS ... Complications may include: Respiratory failure Liver failure Heart failure ... 366. McIntosh K, Perlman S. Coronaviruses, including severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS). ...

  6. Coenzyme Q10 Status as a Determinant of Muscular Strength in Two Independent Cohorts.

    Directory of Open Access Journals (Sweden)

    Alexandra Fischer

    Full Text Available Aging is associated with sarcopenia, which is a loss of skeletal muscle mass and function. Coenzyme Q10 (CoQ10 is involved in several important functions that are related to bioenergetics and protection against oxidative damage; however, the role of CoQ10 as a determinant of muscular strength is not well documented. The aim of the present study was to evaluate the determinants of muscular strength by examining hand grip force in relation to CoQ10 status, gender, age and body mass index (BMI in two independent cohorts (n = 334, n = 967. Furthermore, peak flow as a function of respiratory muscle force was assessed. Spearman's correlation revealed a significant positive association between CoQ10/cholesterol level and hand grip in the basic study population (p<0.01 as well as in the validation population (p<0.001. In the latter, we also found a negative correlation with the CoQ10 redox state (p<0.01, which represents a lower percentage of the reduced form of CoQ10 (ubiquinol in subjects who exhibit a lower muscular strength. Furthermore, the age of the subjects showed a negative correlation with hand grip (p<0.001, whereas BMI was positively correlated with hand grip (p<0.01, although only in the normal weight subgroup (BMI <25 kg/m2. Analysis of the covariance (ANCOVA with hand grip as the dependent variable revealed CoQ10/cholesterol as a determinant of muscular strength and gender as the strongest effector of hand grip. In conclusion, our data suggest that both a low CoQ10/cholesterol level and a low percentage of the reduced form of CoQ10 could be an indicator of an increased risk of sarcopenia in humans due to their negative associations to upper body muscle strength, peak flow and muscle mass.

  7. Muscular cysticercosis: Case report and imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Olmo, Neide Regina Simoes; Fiorio, Ulysses Ferreira; Clemente, Marcel Andreazza, E-mail: neideolmo@yahoo.com.br [Clinica Mult Imagem, Santos, SP (Brazil); Bastos, Eder Amaral [Universidade Metropolitana de Santos (UNIMES), Santos, SP (Brazil); Mendes, Gustavo Gomes [AC Camargo Cancer Center, Sao Paulo, SP (Brazil)

    2016-11-15

    Cysticercosis is a parasitic disease caused by a worm of the Cestoda class. The most prevalent form affects the nervous system. This case report is from a 78-year old female patient evaluated at Clinica Mult Imagem, in the city of Santos, Brazil, who presented a form of the disease that differed from the classic neurocysticercosis, in this case muscular cysticercosis. This and other forms of manifestation justify further studies to ensure adequate recognition, diagnosis and treatment of this parasitic disease. (author)

  8. Defective myoblasts identified in Duchenne muscular dystrophy.

    OpenAIRE

    Blau, H M; Webster, C; Pavlath, G K

    1983-01-01

    A defect in the proliferative capacity of satellite cells, mononucleated precursors of mature muscle fibers, was found in clonal analyses of cells cultured from Duchenne muscular dystrophy (DMD) patients. The total yield of myoblasts per gram of muscle biopsy was decreased to 5% of normal. Of the DMD myoblast clones obtained, a large proportion contained a morphological class of flat distended cells that had an increased generation time and ceased to proliferate beyond 100-1,000 cells but cou...

  9. Intra-muscular hemangioma: A review

    Directory of Open Access Journals (Sweden)

    Shruti Nayak

    2014-01-01

    Full Text Available Intra-muscular hemangiomas (IMH are relatively uncommon benign vascular tumors, which account for less than 1% of all hemangiomas. IMH may be presented as a perceived sporting injury. Diagnosis of this lesion is important not only because of its rarity, but also due to dangers posed by misdiagnosis and mismanagement. They must be considered in the differential diagnosis of unexplained pain and swelling in muscles. IMH occurring in the oral cavity is reviewed below.

  10. A lesão muscular na miastenia grave: estudo de 17 casos com histoquimica muscular

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1982-03-01

    Full Text Available Estudo de 17 biópsias musculares de pacientes com miastenia grave, utilizando técnicas de coloração a fresco e histoquímica muscular. Foram encontradas 15 biópsias musculares anormais, sendo que as principais alterações foram fibras musculares angulares escuras atróficas, excesso de gotículas de gordura na membrana externa das fibras, variação no diâmetro das fibras e atrofia de fibras do tipo II. Os achados foram interpretados como denervação em 11 biópsias, atrofia de fibras do tipo II em 7, infiltrado linfocitário em 4, necrose de fibras musculares com fagocitose em 1 e em 2 biópsias não foi encontrada qualquer anormalidade. Quanto maior o tempo de doença, mais severa foi a anormalidade encontrada. Dois pacientes apresentavam timoma, um miastenia grave congênita, um artrite reumatoide, um neurite hipertrófica intersticial, um tireoidite de Hashimoto e um com síndrome miastênica concomitante. São discutidos os achados anatomopatológicos e sua possível explicação.

  11. Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene.

    Science.gov (United States)

    Ishizaki, Masatoshi; Fujimoto, Akiko; Ueyama, Hidetsugu; Nishida, Yasuto; Imamura, Shigehiro; Uchino, Makoto; Ando, Yukio

    2015-01-01

    We herein present a report of three patients with Becker muscular dystrophy in the same family who developed complete atrioventricular block or ventricular tachycardia with severe cardiomyopathy. Our cases became unable to walk in their teens, and were introduced to mechanical ventilation due to respiratory muscle weakness in their twenties and thirties. In all three cases, a medical device such as a permanent cardiac pacemaker or an implantable cardiac defibrillator was considered to be necessary. The duplication of exons 3-4 in the dystrophin gene was detected in two of the patients. In patients with Becker muscular dystrophy, complete atrioventricular block or ventricular tachycardia within a family has rarely been reported. Thus attention should be paid to the possibility of severe arrhythmias in the severe phenotype of Becker muscular dystrophy.

  12. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.

    Science.gov (United States)

    Wood, Molly F; Hughes, Sarah C; Hache, Lauren P; Naylor, Edwin W; Abdel-Hamid, Hoda Z; Barmada, M Michael; Dobrowolski, Steven F; Stickler, David E; Clemens, Paula R

    2014-06-01

    Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Copyright © 2013 Wiley Periodicals, Inc.

  13. The golden retriever model of Duchenne muscular dystrophy.

    Science.gov (United States)

    Kornegay, Joe N

    2017-05-19

    Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development. Because the GRMD clinical syndrome is more severe than in mice, better aligning with the progressive course of DMD, canine studies may translate better to humans. The original founder dog for all GRMD colonies worldwide was identified in the early 1980s before the discovery of the DMD gene and dystrophin. Accordingly, analogies to DMD were initially drawn based on similar clinical features, ranging from the X-linked pattern of inheritance to overlapping histopathologic lesions. Confirmation of genetic homology between DMD and GRMD came with identification of the underlying GRMD mutation, a single nucleotide change that leads to exon skipping and an out-of-frame DMD transcript. GRMD colonies have subsequently been established to conduct pathogenetic and preclinical treatment studies. Simultaneous with the onset of GRMD treatment trials, phenotypic biomarkers were developed, allowing definitive characterization of treatment effect. Importantly, GRMD studies have not always substantiated findings from mdx mice and have sometimes identified serious treatment side effects. While the GRMD model may be more clinically relevant than the mdx mouse, usage has been limited by practical considerations related to expense and the number of dogs available. This further complicates ongoing broader concerns about

  14. Vascular-targeted therapies for Duchenne muscular dystrophy

    Science.gov (United States)

    2013-01-01

    Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and an X-linked recessive, progressive muscle wasting disease caused by the absence of a functional dystrophin protein. Dystrophin has a structural role as a cytoskeletal stabilization protein and protects cells against contraction-induced damage. Dystrophin also serves a signaling role through mechanotransduction of forces and localization of neuronal nitric oxide synthase (nNOS), which produces nitric oxide (NO) to facilitate vasorelaxation. In DMD, the signaling defects produce inadequate tissue perfusion caused by functional ischemia due to a diminished ability to respond to shear stress induced endothelium-dependent dilation. Additionally, the structural defects seen in DMD render myocytes with an increased susceptibility to mechanical stress. The combination of both defects is necessary to generate myocyte damage, which induces successive rounds of myofiber degeneration and regeneration, loss of calcium homeostasis, chronic inflammatory response, fibrosis, and myonecrosis. In individuals with DMD, these processes inevitably cause loss of ambulation shortly after the first decade and an abbreviated life with death in the third or fourth decade due to cardio-respiratory anomalies. There is no known cure for DMD, and although the culpable gene has been identified for more than twenty years, research on treatments has produced few clinically relevant results. Several recent studies on novel DMD therapeutics are vascular targeted and focused on attenuating the inherent functional ischemia. One approach improves vasorelaxation capacity through pharmaceutical inhibition of either phosphodiesterase 5 (PDE5) or angiotensin-converting enzyme (ACE). Another approach increases the density of the underlying vascular network by inducing angiogenesis, and this has been accomplished through either direct delivery of vascular endothelial growth factor (VEGF) or by downregulating the VEGF decoy

  15. Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report

    Directory of Open Access Journals (Sweden)

    Ana Lucila Moreira Carsten

    2006-06-01

    Full Text Available A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras musculares. Descrevemos o caso de um homem de 19 anos com diminuição de força muscular, hipotrofia nas cinturas escapular e pélvica, disfagia, contraturas articulares em cotovelos e tornozelos, apresentando história familiar compatível com herança ligada ao cromossomo X. A investigação mostrou creatinaquinase sérica elevada, eletrocardiograma com bloqueio atrioventricular de primeiro grau e bloqueio de ramo direito, eletroneuromiografia normal, biópsia muscular com alterações miopáticas e a análise por imuno-histoquímica mostrou deficiência de emerina. São discutidas as manifestações clínicas e genéticas, alterações laboratoriais e eletroneuromiográficas, bem como, a importância do estudo do padrão de herança no aconselhamento genético destas famílias.The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early contractures in elbows and ankles, with familiar history compatible with X-linked inheritance form. The investigation showed increased serum creatinekinase levels electrocardiogram had a first degree atrioventricular block and right bundle branch block normal electromyography and nerve conduction study muscle biopsy disclosed myopathic characteristics and nuclear protein immunohystochemical analysis showed deficiency of emerin. The clinical and genetics manifestations, laboratorial and electromyography changes, as well as, the study of the pattern of inheritance for

  16. Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

    Science.gov (United States)

    Liew, Wendy K. M.

    2013-01-01

    Pediatric neuromuscular disorders comprise a large variety of disorders that can be classified based on their neuroanatomical localization, patterns of weakness, and laboratory test results. Over the last decade, the field of translational research has been active with many ongoing clinical trials. This is particularly so in two common pediatric neuromuscular disorders: Duchenne muscular dystrophy and spinal muscular atrophy. Although no definitive therapy has yet been found, numerous active areas of research raise the potential for novel therapies in these two disorders, offering hope for improved quality of life and life expectancy for affected individuals. PMID:23634188

  17. Noninvasive Respiratory Management of Patients With Neuromuscular Disease.

    Science.gov (United States)

    Bach, John R

    2017-08-01

    This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy. In 2010 clinicians from 22 centers in 18 countries reported 1,623 spinal muscular atrophy type 1 (SMA1), Duchenne muscular dystrophy (DMD), and amyotrophic lateral sclerosis users of noninvasive ventilatory support (NVS) of whom 760 required it continuously (CNVS). The CNVS sustained their lives by over 3,000 patient-years without resort to indwelling tracheostomy tubes. These centers have now extubated at least 74 consecutive ventilator unweanable patients with DMD, over 95% of CNVS-dependent patients with SMA1, and hundreds of others with advanced neuromuscular disorders (NMDs) without resort to tracheotomy. Two centers reported a 99% success rate at extubating 258 ventilator unweanable patients without resort to tracheotomy. Patients with myopathic or lower motor neuron disorders can be managed noninvasively by up to CNVS, indefinitely, despite having little or no measurable vital capacity, with the use of physical medicine respiratory muscle aids. Ventilator-dependent patients can be decannulated of their tracheostomy tubes.

  18. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Banihani, Rudaina; Smile, Sharon; Yoon, Grace; Dupuis, Annie; Mosleh, Maureen; Snider, Andrea; McAdam, Laura

    2015-10-01

    Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of Duchenne muscular dystrophy. © The Author(s) 2015.

  19. Rhabdomyolysis associated with human parvovirus B19 infection in a patient with Fukuyama-type congenital muscular dystrophy.

    Science.gov (United States)

    Ishikawa, Aki; Yoto, Yuko; Ohya, Kazuhiro; Tsugawa, Takeshi; Tsutsumi, Hiroyuki

    2014-07-01

    Patients with Fukuyama-type congenital muscular dystrophy sometimes experience transient exacerbations of muscle weakness. We took care of a 9-year-old boy with Fukuyama-type congenital muscular dystrophy who presented with acute respiratory failure and decreased exercise ability with marked elevation of serum creatine kinase indicating rhabdomyolysis. At that time, his younger sister suffered from erythema infectiosum. Although he had no particular symptoms, he was tested and proven to have acute human parvovirus B19 infection based on detection of anti-B19 IgM and parvovirus B19 DNA in his serum. His acute rhabdomyolysis was possibly triggered by human parvovirus B19 infection. © The Author(s) 2013.

  20. Neurological Respiratory Failure

    Directory of Open Access Journals (Sweden)

    Mohan Rudrappa

    2018-01-01

    Full Text Available West Nile virus infection in humans is mostly asymptomatic. Less than 1% of neuro-invasive cases show a fatality rate of around 10%. Acute flaccid paralysis of respiratory muscles leading to respiratory failure is the most common cause of death. Although the peripheral nervous system can be involved, isolated phrenic nerve palsy leading to respiratory failure is rare and described in only two cases in the English literature. We present another case of neurological respiratory failure due to West Nile virus-induced phrenic nerve palsy. Our case reiterates the rare, but lethal, consequences of West Nile virus infection, and the increase of its awareness among physicians.

  1. Muscular anatomy of the Podocoryna carnea hydrorhiza.

    Science.gov (United States)

    Buss, Leo W; Anderson, Christopher; Bolton, Edward W

    2013-01-01

    The muscular anatomy of the athecate hydroid Podocoryna carnea hydrorhiza is elucidated. The polyp-stolon junction is characterized by an opening, here called the chloe, in the otherwise continuous hydrorhizal perisarc. The chloe is elliptical when the polyp first arises, but takes on a more complex outline as multiple stolons anastomose to communicate with that polyp. Surrounding the polyp base are spots, here called anchors, which autofluoresce at the same wavelengths as perisarc and which, like perisarc, contain chitin as assessed by Calcofluor White, Congo Red and wheat germ agglutinin staining. Anchors remain after living tissues are digested using KOH. Collagen IV staining indicates that the mesoglea is pegged to the anchors and rhodamine phallodin staining detects cytoskeletal F-actin fibers of the basal epidermis surrounding the anchors. Longitudinal muscle fibers of the polyp broaden at the polyp base and are inserted into the mesoglea of the underlying stolon, but were neither observed to extend along the stolonal axis nor to attach to the anchors. Circular muscular fibers of the polyp extend into stolons as a dense collection of strands running along the proximal-distal axis of the stolon. These gastrodermal axial muscular fibers extend to the stolon tip. Epidermal cells at the stolon tip and the polyp bud display a regular apical latticework of F-actin staining. A similar meshwork of F-actin staining was found in the extreme basal epidermis of all stolons. Immunohistochemical staining for tubulin revealed nerves at stolon tips, but at no other hydrorhizal locations. These studies bear on the mechanisms by which the stolon tip and polyp bud pulsate, the manner in which the stolon lumen closes, and on the developmental origin of the basal epidermis of the hydrorhiza.

  2. Nose muscular dynamics: the tip trigonum.

    Science.gov (United States)

    Figallo, E E; Acosta, J A

    2001-10-01

    In 1995, the senior author (E.E.F.) published an article in which he described the musculus digastricus septi nasi labialis. In the article presented here, work carried out by anatomists and other researchers who, over the last two centuries, studied nose muscular dynamics is described. The present study is based on Gray's Anatomy, which, in 1858, first described the nasal tip muscles, along with the other nasal muscles. Later works not only used different terminology for these muscles but also ignored some, creating tremendous confusion. The study presented here provides an update of the exact terms, location, insertions, and muscle functions of the muscles of the nose. Each nose muscle is described with regard to the two portions able to produce separate contractions. In this study, the term "dual function" is used and characterizes the nasal mimetic muscles that do not have well-defined fascia. Therefore, there is doubt about the existence of a real nasal superficial muscle aponeurotic system. The musculus myrtiformis seems to have a dual function, inserting in the canine fosse and in the periosteum of the central incisors, forming two portions-one to the septum and the other to the nostril-each of which has specific functions. This study has been based on research in physiognomy, the science of expression. With regard to the basis for nose expressions, common anatomical research is excluded because it provides a different view of the dynamics studied to date. The term trigonum musculare apicis nasi defines the interaction of the musculi compressor narium minor and dilator naris anterior, connecting with the columellar bundle of the musculus digastricus and levering the nasal spine. This muscular trigone creates circular concentric and eccentric movements of the nasal tip.

  3. A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy.

    Science.gov (United States)

    Yamada, Yuka; Kawakami, Michiyuki; Wada, Ayako; Otsuka, Tomoyoshi; Muraoka, Kaori; Liu, Meigen

    2018-06-01

    Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia. Swinyard functional ability stage was not significantly different between the BMD and DMD groups. Rate of aspiration, P-A scale score, and total VDS score did not differ across groups, but the VDS item score for laryngeal elevation was lower in the BMD group than in the DMD group (median scores 4.5 and 9, respectively; p Becker muscular dystrophy (BMD) was not well known. Eighteen patients with BMD and 18 patients with Duchenne muscular dystrophy were examined with videofluorography. Patients with BMD have swallowing problems similar to those observed in patients with DMD.

  4. Força e arquitetura muscular do gémeo interno na bomba muscular venosa

    OpenAIRE

    Peixoto, Flávia; Pinto, Ângela; Kozlova, Veronika; Crisóstomo, Rute

    2015-01-01

    Objetivo: Avaliar e comparar a Força Muscular (FM), Amplitude de Movimento (ADM) e Arquitetura Muscular da bomba muscular venosa em sujeitos com e sem Insuficiência Venosa Crónica (IVC). Relevância: A IVC provoca alterações na função da bomba muscular venosa, no entanto, pouco se conhece acerca das suas repercussões físicas e funcionais. Amostra: Sujeitos com IVC (alterações da tróficas, e úlcera ativa/cicatrizada) e saudáveis. Foram avaliados 33 sujeitos dos quais foram analis...

  5. [Complete atrioventricular block in Duchenne muscular dystrophy].

    Science.gov (United States)

    Kuru, Satoshi; Tanahashi, Tamotsu; Matsumoto, Shinjirou; Kitamura, Tetsuya; Konagaya, Masaaki

    2012-01-01

    We report a case of complete atrioventricular (AV) block in a 40-year-old patient with Duchenne muscular dystrophy (DMD). While he was bed-ridden and required mechanical ventilation, his cardiac involvement was mild. He had the deletion of exon 45-52 in the dystrophin gene. He underwent transient complete AV block and came to require pacemaker implantation due to recurrence of complete AV block ten days after the first attack. Electrophysiological study revealed mild prolonged AH and HV interval. Although DMD patients with AV block have been rarely reported so far, attention should be paid to AV block for patients who prolonged their lives.

  6. Spinal muscular atrophy present in children

    OpenAIRE

    Garófalo Gómez, Nicolás; Zaldívar Vaillant, Tatiana; Vargas Díaz, José; Rojas Massipe, Edelsia; Novoa López, Lucía

    2009-01-01

    INTRODUCCIÓN. Las atrofias musculares espinales en la infancia (AME) son trastornos genéticos autosómicos recesivos, caracterizados por degeneración de las motoneuronas espinales y bulbares. El presente estudio tuvo el objetivo principal de describir las principales características clínicas en una serie de niños con AME. MÉTODOS. Se realizó un estudio retrospectivo de los pacientes con AME atendidos en el Instituto de Neurología y Neurocirugía de Cuba, entre enero de 1997 y diciembre de 2001....

  7. Merosin/laminin-2 and muscular dystrophy

    DEFF Research Database (Denmark)

    Wewer, U M; Engvall, E

    1996-01-01

    structural organization of domains, some of which have been assigned biological activities, including self-assembly and interactions with other proteins. The particular importance of laminins for the formation and stability of cell adhesion complexes is highlighted in severe inherited diseases of muscle...... and skin. Merosin is the collective name for laminins that share a common subunit, the laminin alpha 2 chain. Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene. The skin disease Herlitz junctional epidermolysis bullosa is caused by mutations...

  8. Muscular cysticercosis: Case report and imaging findings

    Directory of Open Access Journals (Sweden)

    Neide Regina Simões Olmo

    Full Text Available Summary Cysticercosis is a parasitic disease caused by a worm of the Cestoda class. The most prevalent form affects the nervous system. This case report is from a 78-year-old female patient evaluated at Clínica Mult Imagem, in the city of Santos, Brazil, who presented a form of the disease that differed from the classic neurocysticercosis, in this case muscular cysticercosis. This and other forms of manifestation justify further studies to ensure adequate recognition, diagnosis and treatment of this parasitic disease.

  9. Relaci??n entre la masa muscular, la densidad mineral ??sea, la fuerza muscular, la aptitud funcional y la calidad muscular en personas mayores

    OpenAIRE

    Pati??o Villada, Fredy Alonso

    2015-01-01

    294 p. La tesis pretende determinar la frecuencia de la sarcopenia y osteporosis , problemas que afectan a la salud de las personas mayores, y analizar la relaci??n entre la masa muscular, la densidad mineral ??sea (DMO), la fuerza muscular, la aptitud funcional y la calidad muscular (CM). La muestra estudiada fue la formada por un grupo de 83 hombres y 175 mujeres mayores de Le??n (Espa??a). El estudio transversal eval??a ??ndices de masa grasa y densidad mineral ??sea y niveles d...

  10. Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management.

    Science.gov (United States)

    Toussaint, Michel; Davidson, Zoe; Bouvoie, Veronique; Evenepoel, Nathalie; Haan, Jurn; Soudon, Philippe

    2016-10-01

    Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia). Recent studies on dysphagia in DMD clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little guidance is available for its management. This paper aims to provide a step-by-step algorithm to facilitate clinical decisions regarding dysphagia management in this patient population. This algorithm is based on 30 years of clinical experience with DMD in a specialised Centre for Neuromuscular Disorders (Inkendaal Rehabilitation Hospital, Belgium) and is supported by literature where available. Dysphagia can worsen the condition of ageing patients with DMD. Apart from the difficulties of chewing and oral fragmentation of the food bolus, dysphagia is rather a consequence of an impairment in the pharyngeal phase of swallowing. By contrast with central neurologic disorders, dysphagia in DMD accompanies solid rather than liquid intake. Symptoms of dysphagia may not be clinically evident; however laryngeal food penetration, accumulation of food residue in the pharynx and/or true laryngeal food aspiration may occur. The prevalence of these issues in DMD is likely underestimated. There is little guidance available for clinicians to manage dysphagia and improve feeding for young men with DMD. This report aims to provide a clinical algorithm to facilitate the diagnosis of dysphagia, to identify the symptoms and to propose practical recommendations to treat dysphagia in the adult DMD population. Implications for Rehabilitation Little guidance is available for the management of dysphagia in Duchenne dystrophy. Food can penetrate the vestibule, accumulate as residue or cause aspiration. We propose recommendations and an algorithm to guide management of dysphagia. Penetration/residue accumulation

  11. Análise da expressão do colágeno VI na distrofia muscular congênita Analysis of the expression of collagen VI in congenital muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Regina Toni Loureiro de Freitas

    2005-06-01

    , through immunohistochemistry, the expression of COL6 in muscle fragments of 50 patients with CMD; 20 of them presented merosin expression deficiency. We identified 4 cases with total COL6 deficiency (8% of the total, representing 13% of the cases with normal merosin expression. The histological findings of patients with deficiency of COL6 were indistinguishable from other forms of CMD, but milder than that abnormalities observed in merosin deficient patients. In three COL6 deficient patients were observed hypotonia and weakness in the neonatal period, delayed of motor milestones, muscular retractions of knees and elbows, distal joint hiperextensibility and congenital hip dislocation (two patients. One patient lost the ability to walk; and one died due to respiratory problems. The analysis of COL6 expression, as well as merosin expression, in the muscle tissue from CMD patients, can be important for identification and phenotypic characterization of different CMD subtypes.

  12. Muscular subunits transplantation for facial reanimation

    Directory of Open Access Journals (Sweden)

    Hazan André Salo Buslik

    2006-01-01

    Full Text Available PURPOSE: To present an alternative technique for reconstruction of musculocutaneous damages in the face transferring innervated subsegments(subunits of the latissimus dorsi flap for replacement of various facial mimetic muscles. METHODS: One clinical case of trauma with skin and mimetic muscles damage is described as an example of the technique. The treatment was performed with microsurgical transfer of latissimus dorsi muscle subunits. Each subunit present shape and dimensions of the respective mimetic muscles replaced. The origin, insertions and force vectors for the mimicmuscle lost were considered. Each subsegment has its own arterial and venous supply with a motor nerve component for the muscular unit. RESULTS: Pre and one year postoperative photos registration of static and dynamic mimic aspects, as well as digital electromyography digital data of the patients were compared. The transplanted muscular units presented myoeletric activity, fulfilling both the functional and cosmetic aspect. CONCLUSION: This technique seems to be a promising way to deal with the complex musculocutaneous losses of the face as well as facial palsy.

  13. Muscle MRI findings in facioscapulohumeral muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gerevini, Simonetta; Caliendo, Giandomenico; Falini, Andrea [IRCCS San Raffaele Scientific Institute, Neuroradiology Unit, Head and Neck Department, Milan (Italy); Scarlato, Marina; Previtali, Stefano Carlo [IRCCS San Raffaele Scientific Institute, Department of Neurology, INSPE and Division of Neuroscience, Milan (Italy); Maggi, Lorenzo; Pasanisi, Barbara; Morandi, Lucia [Fondazione IRCCS Istituto Neurologico ' ' Carlo Besta' ' , Neuromuscular Diseases and Neuroimmunology Unit, Milan (Italy); Cava, Mariangela [IRCCS San Raffaele Scientific Institute, Department of Radiology and Center for Experimental Imaging, Milan (Italy)

    2016-03-15

    Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations. Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD). In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients. In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease. (orig.)

  14. Clinico-epidemiologic characteristics of spinal muscular atrophy ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    Deletion;. Chromosome 5;. Mutations. Abstract Spinal muscular atrophy (SMA) is characterized by progressive hypotonia and muscular weakness because of progressive degeneration of alpha motor neuron from anterior horn cells in the spinal cord. It is inherited by an autosomal recessive pattern. The precise frequency of ...

  15. Upper limb function in adults with Duchenne muscular dystrophy

    NARCIS (Netherlands)

    B. Bartels (Bart); R.F. Pangalila (Robert); M.P. Bergen (Michael); N.A.M. Cobben (Nicolle); H.J. Stam (Henk); M.E. Roebroeck (Marij)

    2011-01-01

    textabstractTo determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. Design: Cross-sectional study. Subjects: A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). Methods: General motor function and, in particular, upper limb distal

  16. Limb girdle muscular dystrophy due to mutations in POMT2

    DEFF Research Database (Denmark)

    Østergaard, Sofie Thurø; Johnson, Katherine; Stojkovic, Tanya

    2018-01-01

    BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four...

  17. Upper Body Muscular Endurance Among Children 2-5 Years.

    Science.gov (United States)

    Gabbard, Carl P.; And Others

    The upper body muscular endurance of males and females 2-5 years of age was assessed, and relationships relative to sex, age, endurance and selected anthropometric measures were investigated. None of the relationships were found to be of practical predicative value; while upper body muscular strength increased with age, no significant differences…

  18. Primary muscular hydatid: preoperative diagnosis Throught computerized tomography and ultrasonography

    International Nuclear Information System (INIS)

    Macho Fernandez, J.M.; Marin Cardenas, M.A.; Mazas Artasona, L.; Lample Lacasa, C.; Otero Sierra, C.; Hernandez Navarrete, M.J.; Gomez-Pereda, R.

    1995-01-01

    Primary muscular hydatid disease, is extremely rare,- but not exceptional-, comparatively with other atypical localization. In this article the authors revised 474 patients with hydatid disease over a ten years period. Three cases of primary muscular localization were found. The ultrasonography and computed tomography facilitates the preoperative diagnosis. (Author) 40 refs

  19. Muscular hamartoma of the breast: a case report

    International Nuclear Information System (INIS)

    Kang, Byeong Seong; Park, Jeong Mi

    2002-01-01

    Muscular hamartoma is a variant of breast hamartoma shown at microscopic examination to be composed of abundant smooth muscle cells. We report a case of muscular hamartoma occurring in a 35-year-old woman with an incidentally discovered breast mass, and confirmed by excisional biopsy. We also describe the radiologic and pathologic findings

  20. Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

    Science.gov (United States)

    Hightower, Rylie M; Alexander, Matthew S

    2018-01-01

    Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. Muscle Nerve 57: 6-15, 2018. © 2017 Wiley Periodicals, Inc.

  1. Why is muscularity sexy? Tests of the fitness indicator hypothesis.

    Science.gov (United States)

    Frederick, David A; Haselton, Martie G

    2007-08-01

    Evolutionary scientists propose that exaggerated secondary sexual characteristics are cues of genes that increase offspring viability or reproductive success. In six studies the hypothesis that muscularity is one such cue is tested. As predicted, women rate muscular men as sexier, more physically dominant and volatile, and less committed to their mates than nonmuscular men. Consistent with the inverted-U hypothesis of masculine traits, men with moderate muscularity are rated most attractive. Consistent with past research on fitness cues, across two measures, women indicate that their most recent short-term sex partners were more muscular than their other sex partners (ds = .36, .47). Across three studies, when controlling for other characteristics (e.g., body fat), muscular men rate their bodies as sexier to women (partial rs = .49-.62) and report more lifetime sex partners (partial rs = .20-.27), short-term partners (partial rs = .25-.28), and more affairs with mated women (partial r = .28).

  2. Enhancing neural activity to drive respiratory plasticity following cervical spinal cord injury

    Science.gov (United States)

    Hormigo, Kristiina M.; Zholudeva, Lyandysha V.; Spruance, Victoria M.; Marchenko, Vitaliy; Cote, Marie-Pascale; Vinit, Stephane; Giszter, Simon; Bezdudnaya, Tatiana; Lane, Michael A.

    2016-01-01

    Cervical spinal cord injury (SCI) results in permanent life-altering sensorimotor deficits, among which impaired breathing is one of the most devastating and life-threatening. While clinical and experimental research has revealed that some spontaneous respiratory improvement (functional plasticity) can occur post-SCI, the extent of the recovery is limited and significant deficits persist. Thus, increasing effort is being made to develop therapies that harness and enhance this neuroplastic potential to optimize long-term recovery of breathing in injured individuals. One strategy with demonstrated therapeutic potential is the use of treatments that increase neural and muscular activity (e.g. locomotor training, neural and muscular stimulation) and promote plasticity. With a focus on respiratory function post-SCI, this review will discuss advances in the use of neural interfacing strategies and activity-based treatments, and highlights some recent results from our own research. PMID:27582085

  3. Atrofia muscular espinal en el niño Spinal muscular atrophy present in children

    Directory of Open Access Journals (Sweden)

    Nicolás Garófalo Gómez

    2009-09-01

    Full Text Available INTRODUCCIÓN. Las atrofias musculares espinales en la infancia (AME son trastornos genéticos autosómicos recesivos, caracterizados por degeneración de las motoneuronas espinales y bulbares. El presente estudio tuvo el objetivo principal de describir las principales características clínicas en una serie de niños con AME. MÉTODOS. Se realizó un estudio retrospectivo de los pacientes con AME atendidos en el Instituto de Neurología y Neurocirugía de Cuba, entre enero de 1997 y diciembre de 2001. Se recopilaron los datos de 35 pacientes, 4 de ellos, fetos con confirmación prenatal de AME. Se precisaron las principales características clínicas, electromiográficas, de la biopsia muscular y de los estudios genéticos moleculares realizados en cada caso. RESULTADOS. La AME de tipo II resultó la forma clínica más frecuente (58 %, seguida por la AME de tipo I (42 %. Las principales manifestaciones clínicas resultaron la debilidad muscular generalizada con predominio proximal en extremidades, asociada a hipotonía y arreflexia osteotendinosa. La deleción de los exones 7 y 8 del gen SMN1 se detectó en 20 de 23 casos estudiados (87 %.INTRODUCTION: Spinal muscular atrophies (SMA in childhood are autosomal recessive genetic disorders, characterized by spinal and bulbar motoneurons degenerations. Aim of present paper was to describe the main clinical features in a series of children presenting SMA. METHODS: A retrospective study of patients with SMA seen in the Neurology and Neurosurgery Institute of Cuba from January, 2997 and December, 2001 was made. Data from 35 patients were available; four of them were fetus with prenatal confirmation of SMA. Main clinical, electromyography, muscular biopsy, and of molecular genetic studies performed in each case were determined. RESULTS: Type II SMA was the more frequent clinical presentation (58%, followed by type I SMA (42,%. Main clinical manifestations were a systemic muscular weakness with

  4. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands : a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, Marianne

    1999-01-01

    Background Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

  5. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, E. M.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; Leschot, N. J.; van Essen, A. J.; Brunner, H. G.; van der Wouw, P. A.; Wilde, A. A.; de Visser, M.

    1999-01-01

    BACKGROUND: Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

  6. An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA

    Directory of Open Access Journals (Sweden)

    Deborah S. Boroughs

    2017-04-01

    Full Text Available Until 25 years ago, there were limited options for long-term mechanical ventilation of children, and the majority of children were cared for in hospitals. However, with improving technology, the pediatric intensive care unit has moved from the hospital to a home setting, as children with increasingly complex healthcare needs are now often cared for by family members. One of the most complex care conditions involves ventilator and tracheostomy support. Advanced respiratory technologies that augment natural respiratory function prolong the lives of children with respiratory compromise; however, this care often comes with serious risks, including respiratory muscle impairment, respiratory failure, and chronic pulmonary disease. Both non-invasive assisted ventilation and assisted ventilation via tracheostomy can prolong survival into adulthood in many cases; however, mechanical ventilation in the home is a high-stakes, high risk intervention. Increasing complexity of care over time requires perpetual skill training of family caregivers that is delivered and supported by professional caregivers; yet, opportunities for additional training outside of the hospital rarely exist. Recent data has confirmed that repetitive caregiver education is essential for retention of memory and skills in adult learners. This study analyzes the use of continued education and training in the community for family caregivers of ventilator-dependent children diagnosed with spinal muscular atrophy (SMA.

  7. Para-muscular and trans-muscular approaches to the lumbar inter-vertebral foramen: an anatomical comparison.

    Science.gov (United States)

    Poetscher, Arthur Werner; Ribas, Guilherme Carvalhal; Yasuda, Alexandre; Nishikuni, Koshiro

    2005-03-01

    Foraminal and extra-foraminal disc herniations comprise up to 11.7% of all lumbar disc herniations. Facetectomy, which had been the classic approach, is now recognized as cause of pain and instability after surgery. Otherwise, posterior lateral approaches through a trans-muscular or a para-muscular technique offer no significant damage to key structures for spinal stability. The surgical anatomy of these approaches has already been described, but they were not compared. In order to quantify the angle of vision towards the intervertebral foramen offered by each technique, 12 fresh cadavers were dissected and studied regarding these approaches. The angle presented by trans-muscular approach was wider in all studied lumbar levels. Surgery through the trans-muscular approach is performed with a better working angle, requiring a smaller resection of surrounding tissues. Therefore, minor surgical trauma can be expected. Our measurements support previously published data that point the trans-muscular approach as the best surgical option.

  8. Serum creatinine level: a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy.

    Science.gov (United States)

    Zhang, Huili; Zhu, Yuling; Sun, Yiming; Liang, Yingyin; Li, Yaqin; Zhang, Yu; Deng, Langhui; Wen, Xingxuan; Zhang, Cheng

    2015-01-01

    To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r = -0.793) and partial correlation analysis after adjustment for age, height, and weight (r = -0.791; both P Becker muscular dystrophy (BMD) patients than Duchenne muscular dystrophy (DMD) patients at ages 4, 5, 7, and 9 yr (all P < 0.0125). After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β = 7.140,  t = 6.277,  P < 0.01). Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

  9. Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient.

    Science.gov (United States)

    Alliod, Barbara A; Ash, Rebecca A

    2016-12-01

    More patients suffering with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are presenting to perianesthesia settings for emergent and nonemergent treatment and care. A group of collaborative health care providers at Rush University Medical Center in Chicago developed a multidisciplinary DMD/BMD Task Force to study this disorder and create a set of guidelines to aid those engaging in the planning, execution of care, and recovery of this unique population in the perianesthesia setting. Attention to detail, well-executed preplanning, meticulous awareness of the patient, and prearranged implementation and intervention has proven to offset potential problems and complications and is the key to a successful perianesthesia period. Copyright © 2016 American Society of PeriAnesthesia Nurses. Published by Elsevier Inc. All rights reserved.

  10. Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study.

    Science.gov (United States)

    Nakamura, Yuko; Saito, Yoshiaki; Kubota, Norika; Matsumura, Wataru; Hosoda, Chika; Tamasaki-Kondo, Akiko; Nishimura, Yoko; Sunada, Yoshihide; Fukada, Masuyuki; Ohno, Takako; Maegaki, Yoshihiro; Matsuo, Masafumi; Tokita, Yasuko

    2018-03-08

    To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized. This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow (PCF), average PCO 2 in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed. In five BMD patients, including three who were still ambulant, nocturnal average PCO 2 was elevated to >45 mmHg at 12-31 years of age. Noninvasive positive pressure ventilation was initiated in four patients. Gradual declines in FVC% and PEF% were evident in one BMD patient with exon 3-7 deletion, whereas these functions did not change in the remaining BMD patients. PCF, FEV1%, and LVEF were less informative for the assessment of respiratory function in this patient series. Sleep hypercapnia was present in certain BMD patients, which was unexpected from the routine pulmonary function tests. Individualized assessment of nocturnal PCO 2 , partly based on the deletion types, should be further explored in the clinical practice of BMD patients. Copyright © 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  11. Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures.

    Science.gov (United States)

    Segura, Leal G; Lorenz, Jessica D; Weingarten, Toby N; Scavonetto, Federica; Bojanić, Katarina; Selcen, Duygu; Sprung, Juraj

    2013-09-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are associated with life-threatening perioperative complications, including rhabdomyolysis, hyperkalemia, and hyperthermia. Current recommendations contraindicate use of succinylcholine and volatile anesthetics; however, the latter recommendation remains controversial. To review the perioperative outcomes of patients with DMD and BMD. We reviewed records of patients with DMD or BMD who underwent anesthetic management at our institution from January 1990 through December 2011. We identified 47 patients (DMD, 37; BMD, 10) who underwent 117 anesthetic exposures (DMD, 101; BMD, 16). Volatile anesthetic agents were used 66 times (DMD, 59; BMD, 7). One patient with undiagnosed BMD received succinylcholine and developed acute rhabdomyolysis and hyperkalemic cardiac arrest. All other major complications were attributed to the procedure (i.e., large bleeding), to preexisting comorbidities (i.e., respiratory failure, cardiac disease), or to both. Use of succinylcholine in children with dystrophinopathy is contraindicated. These patients have significant comorbidities and are frequently undergoing extensive operations; complications related to these factors can develop, as evidenced by our series. These complications may occur with use of volatile and nonvolatile anesthetics. However, because most of our patients were older than 8 years at the time of surgery, our observation cannot be generalized to younger dystrophin-deficient children. © 2013 John Wiley & Sons Ltd.

  12. Efficacy and Safety Profile of Tricyclo-DNA Antisense Oligonucleotides in Duchenne Muscular Dystrophy Mouse Model

    Directory of Open Access Journals (Sweden)

    Karima Relizani

    2017-09-01

    Full Text Available Antisense oligonucleotides (AONs hold promise for therapeutic splice-switching correction in many genetic diseases. However, despite advances in AON chemistry and design, systemic use of AONs is limited due to poor tissue uptake and sufficient therapeutic efficacy is still difficult to achieve. A novel class of AONs made of tricyclo-DNA (tcDNA is considered very promising for the treatment of Duchenne muscular dystrophy (DMD, a neuromuscular disease typically caused by frameshifting deletions or nonsense mutations in the gene-encoding dystrophin and characterized by progressive muscle weakness, cardiomyopathy, and respiratory failure in addition to cognitive impairment. Herein, we report the efficacy and toxicology profile of a 13-mer tcDNA in mdx mice. We show that systemic delivery of 13-mer tcDNA allows restoration of dystrophin in skeletal muscles and to a lower extent in the brain, leading to muscle function improvement and correction of behavioral features linked to the emotional/cognitive deficiency. More importantly, tcDNA treatment was generally limited to minimal glomerular changes and few cell necroses in proximal tubules, with only slight variation in serum and urinary kidney toxicity biomarker levels. These results demonstrate an encouraging safety profile for tcDNA, albeit typical of phosphorothiate AONs, and confirm its therapeutic potential for the systemic treatment of DMD patients. Keywords: antisense oligonucleotides, Duchenne muscular dystrophy, preclinical, splice switching, tcDNA-AONs

  13. Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

    Directory of Open Access Journals (Sweden)

    Victor Kosac

    2013-10-01

    Full Text Available Familial spinal muscular atrophy (FSMA associated with the vesicle-associated membrane protein-associated protein B (VAPB gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

  14. Sugammadex and Reversal of Neuromuscular Block in Adult Patient with Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Ahmed Abdelgawwad Wefki Abdelgawwad Shousha

    2014-01-01

    Full Text Available Duchenne’s muscular dystrophy (DMD is the most common and severe form of myopathy. Patients with DMD are more sensitive to sedative, anesthetic, and neuromuscular blocking agents which may result in intraoperative and early postoperative cardiovascular and respiratory complications, as well as prolonged recovery from anesthesia. In this case report, we describe a 25-year-old male patient admitted for cholecystectomy under general anesthesia. We induced our anesthesia by oxygen, propofol, fentanyl, and rocuronium bromide. Maintenance was done by fentanyl, rocuronium bromide, sevoflurane, and O2. We report in this case the safety use of sugammadex to antagonize the neuromuscular block and rapid recovery in such category of patients.

  15. Respiratory medicine of reptiles.

    Science.gov (United States)

    Schumacher, Juergen

    2011-05-01

    Noninfectious and infectious causes have been implicated in the development of respiratory tract disease in reptiles. Treatment modalities in reptiles have to account for species differences in response to therapeutic agents as well as interpretation of diagnostic findings. Data on effective drugs and dosages for the treatment of respiratory diseases are often lacking in reptiles. Recently, advances have been made on the application of advanced imaging modalities, especially computed tomography for the diagnosis and treatment monitoring of reptiles. This article describes common infectious and noninfectious causes of respiratory disease in reptiles, including diagnostic and therapeutic regimen. Copyright © 2011 Elsevier Inc. All rights reserved.

  16. Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy

    DEFF Research Database (Denmark)

    Jensen, L; Petersson, S J; Illum, N O

    2017-01-01

    OBJECTIVE: Duchenne muscular dystrophy (DMD) patients are often treated with glucocorticoids; yet their precise molecular action remains unknown. METHODS: We investigated muscle biopsies from nine boys with DMD (aged: 7,6±2,8 yrs.) collected before and after three months of deflazacort treatment...... into the molecular actions of glucocorticoids in DMD at the mRNA level, and we show that multiple regulatory pathways are influenced. This information can be important in the development of new treatments....

  17. Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Lager, Christina; Kroksmark, Anna-Karin

    2015-09-01

    The purpose of this study was to explore the prevalence, nature and scope of pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy and whether the pain differs between diagnostic groups or between adolescents with different ambulation status. Furthermore to study the consequences of pain and to identify pain-exacerbating and pain-relieving factors. In a national survey, fifty-five adolescents with spinal muscular atrophy and dystrophinopathy completed a questionnaire assessing pain frequency, duration, location using a body map, intensity and discomfort using visual analogue scales, pain interference using a modified version of Brief Pain Inventory and factors exacerbating and relieving pain. Sixty-nine per cent of the adolescents reported pain during the past three months and 50% reported chronic pain. The pain prevalence did not differ significantly between diagnostic groups or between ambulators and non-ambulators. The average pain intensity was graded as mild and the worst pain as moderate. The pain typically occurred weekly, most frequently in the neck/back or legs. General activity and mood were the areas that were most affected by pain. Common pain-exacerbating factors were sitting, too much movement/activity and being lifted or transferred. Pain is a frequent problem in adolescents with spinal muscular atrophy and dystrophinopathy. The assessments used enable an understanding both of the nature and scope of pain and of the impact of pain in everyday life. The study highlights the importance of assessing pain in a systematic manner and offering an individual approach to interventions designed to reduce pain in this population. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  18. Avaliação da função motora em crianças com distrofia muscular congênita com deficiência da merosina Motor function evaluation in merosin-deficient congenital muscular dystrophy children

    Directory of Open Access Journals (Sweden)

    Fernanda M. Rocco

    2005-06-01

    Full Text Available A distrofia muscular congênita (DMC compõe um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas até o primeiro ano de vida. Em torno de 40% a 50% dos casos são decorrentes de deficiência primária da proteína merosina (DM, os quais apresentam um fenótipo mais homogêneo, com grave comprometimento motor e respiratório. Foram avaliadas neste estudo onze crianças com diagnóstico clínico e histológico de DMC-DM, com idade de 3 a 15 anos, através de exame de força muscular ("Medical Research Council", análise goniométrica, avaliação das habilidades motoras e das atividades de vida diária (AVDs (indicador de Barthel, com o objetivo de caracterizar as principais limitações funcionais motoras. Os grupos musculares mais comprometidos foram os flexores cervicais, paravertebrais e proximais dos membros. Os grupos musculares dos membros superiores estavam tão comprometidos quanto os dos membros inferiores, enquanto que os extensores encontravam-se mais comprometidos que os flexores. Todas as crianças apresentavam importantes retrações musculares nos quadris, joelhos e cotovelos. Outras deformidades freqüentes foram escoliose e pés eqüino-varo. Nenhuma criança possuía a habilidade motora necessária para engatinhar, ficar de pé ou andar; e todas foram classificadas como dependentes ou semidependentes para a maioria das AVDs estudadas. Nossos achados confirmam o envolvimento difuso e intenso da musculatura esquelética na DMC-DM, acarretando graves limitações funcionais motoras e deformidades músculo-esqueléticas.Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by early onset of hypotonia and weakness. Almost 50% of the cases are caused by primary deficiency of a protein named merosin (MD, and present a homogenous phenotype with a severe motor and respiratory involvement. Eleven children with clinical and histological diagnosis of CMD-MD, aged of 3 to 15 years

  19. Imagem radiográfica da cavidade torácica de cães Golden Retriever acometidos pela distrofia muscular Radiologic images of the thoracic cavity of Golden Retriever dogs affected by muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Flávio R. Alves

    2009-02-01

    phenotypic characteristics to Human Muscular Dystrophy and are considered a proper animal model for DMD studies. Latero-lateral and dorso-ventral thoracic radiographies were obtained from 10 Golden Retriever dogs affected by muscular dystrophy, to investigate possible radiographic alterations. Thorax radiographic examination revealed (a interstitial and alveolar pattern, (b initial phases of pneumonia and pulmonary edema, (c cardiomegaly as a principal alteration in the thoracic cavity, (d megaesophagus displacing the trachea and heart silhouette, and (e cranial protrusion of the diaphragm lining into the thorax with development of a hiatus hernia displacing the stomach to the caudal mediastinum. Postmortem examination showed pleural effusion, pulmonary emphysema, degenerative and metaplasic processes in the diaphragm and intercostal muscles. Radiographic examination was considered essential for the diagnosis of cardiac and respiratory disease in Golden Retriever dogs affected by muscular dystrophy, and to identify the primary pulmonary process and to provide the establishment of suitable therapeutic treatment, with a reserved prognosis in advanced stage of the disease.

  20. Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors

    Directory of Open Access Journals (Sweden)

    Alessandra eZulian

    2014-11-01

    Full Text Available Ullrich congenital muscular dystrophy and Bethlem myopathy are caused by mutations in collagen VI genes, which encode an extracellular matrix protein; yet mitochondria play a major role in disease pathogenesis through a short circuit caused by inappropriate opening of the permeability transition pore, a high conductance channel which causes a shortage in ATP production. We find that melanocytes do not produce collagen VI yet they bind it at the cell surface, suggesting that this protein may play a trophic role and that its absence may cause lesions similar to those seen in skeletal muscle. We show that mitochondria in melanocytes of Ullrich congenital muscular dystrophy and Bethlem myooathy patients display increased size, reduced matrix density and disrupted cristae, findings that suggest a functional impairment. In keeping with this hypothesis, mitochondria (i underwent anomalous depolarization after inhibition of the F-ATP synthase with oligomycin, and (ii displayed decreased respiratory reserve capacity. The non-immunosuppressive cyclophilin inhibitor NIM811 prevented mitochondrial depolarization in response to oligomycin in melanocytes from both Ullrich congenital muscular dystrophy and Bethlem myopathy patients, and partially restored the respiratory reserve of melanocytes from one Bethlem myopathy patient. These results match our recent findings on melanocytes from patients affected by Duchenne muscular dystrophy (Pellegrini et al., 2013 Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol 228, 1323-1331, and suggest that skin biopsies may represent a minimally invasive tool to investigate mitochondrial dysfunction and to evaluate drug efficacy in collagen VI-related myopathies and possibly in other muscle wasting conditions like aging sarcopenia.

  1. Fibroblast cultures in duchenne muscular dystrophy

    International Nuclear Information System (INIS)

    Ionasescu, V.; Lara-Braud, C.; Zellweger, H.; Ionasescu, R.; Burmeister, L.

    1977-01-01

    Primary skin fibroblast cultures were grown from forearm pinch skin biopsies obtained from 24 patients with Duchenne muscular dystrophy (DMD) and ten normal controls matched for sex and age. The first subcultures were grown for 7 days and incubated with L-( 3 H)-proline for 24 hours. Intracellular collagen incoption was significantly decreased (2.2 X) and extracellular collagen incorporation significantly increased (1.8 X) in fibroblast cultures from patients with DMD by both collagenase assay and polyacrylamide gel electrophoresis. The synthesis of noncollagen proteins showed low values from the DMD fibroblast cultures. The alterations in synthesis and secretion of collagen and noncollagen proteins were characteristic only for the log phase of DMD fibroblasts. (author)

  2. The Importance of Muscular Strength: Training Considerations.

    Science.gov (United States)

    Suchomel, Timothy J; Nimphius, Sophia; Bellon, Christopher R; Stone, Michael H

    2018-04-01

    This review covers underlying physiological characteristics and training considerations that may affect muscular strength including improving maximal force expression and time-limited force expression. Strength is underpinned by a combination of morphological and neural factors including muscle cross-sectional area and architecture, musculotendinous stiffness, motor unit recruitment, rate coding, motor unit synchronization, and neuromuscular inhibition. Although single- and multi-targeted block periodization models may produce the greatest strength-power benefits, concepts within each model must be considered within the limitations of the sport, athletes, and schedules. Bilateral training, eccentric training and accentuated eccentric loading, and variable resistance training may produce the greatest comprehensive strength adaptations. Bodyweight exercise, isolation exercises, plyometric exercise, unilateral exercise, and kettlebell training may be limited in their potential to improve maximal strength but are still relevant to strength development by challenging time-limited force expression and differentially challenging motor demands. Training to failure may not be necessary to improve maximum muscular strength and is likely not necessary for maximum gains in strength. Indeed, programming that combines heavy and light loads may improve strength and underpin other strength-power characteristics. Multiple sets appear to produce superior training benefits compared to single sets; however, an athlete's training status and the dose-response relationship must be considered. While 2- to 5-min interset rest intervals may produce the greatest strength-power benefits, rest interval length may vary based an athlete's training age, fiber type, and genetics. Weaker athletes should focus on developing strength before emphasizing power-type training. Stronger athletes may begin to emphasize power-type training while maintaining/improving their strength. Future research should

  3. Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy.

    Science.gov (United States)

    Nascimento Osorio, A; Medina Cantillo, J; Camacho Salas, A; Madruga Garrido, M; Vilchez Padilla, J J

    2018-03-09

    Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. We performed a literature search of the main biomedical databases for articles published in the last 10years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies. Copyright © 2018 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Genetics Home Reference: spinal muscular atrophy with respiratory distress type 1

    Science.gov (United States)

    ... is produced from the mutated IGHMBP2 gene may play a role in the severity of SMARD1 . Individuals who have some functional protein are more likely to develop signs and symptoms later in childhood and retain a greater level of muscle function. ...

  5. Sensorimotor control of breathing in the mdx mouse model of Duchenne muscular dystrophy.

    Science.gov (United States)

    Burns, David P; Roy, Arijit; Lucking, Eric F; McDonald, Fiona B; Gray, Sam; Wilson, Richard J; Edge, Deirdre; O'Halloran, Ken D

    2017-11-01

    Respiratory failure is a leading cause of mortality in Duchenne muscular dystrophy (DMD), but little is known about the control of breathing in DMD and animal models. We show that young (8 weeks of age) mdx mice hypoventilate during basal breathing due to reduced tidal volume. Basal CO 2 production is equivalent in wild-type and mdx mice. We show that carotid bodies from mdx mice have blunted responses to hyperoxia, revealing hypoactivity in normoxia. However, carotid body, ventilatory and metabolic responses to hypoxia are equivalent in wild-type and mdx mice. Our study revealed profound muscle weakness and muscle fibre remodelling in young mdx diaphragm, suggesting severe mechanical disadvantage in mdx mice at an early age. Our novel finding of potentiated neural motor drive to breathe in mdx mice during maximal chemoactivation suggests compensatory neuroplasticity enhancing respiratory motor output to the diaphragm and probably other accessory muscles. Patients with Duchenne muscular dystrophy (DMD) hypoventilate with consequential arterial blood gas derangement relevant to disease progression. Whereas deficits in DMD diaphragm are recognized, there is a paucity of knowledge in respect of the neural control of breathing in dystrophinopathies. We sought to perform an analysis of respiratory control in a model of DMD, the mdx mouse. In 8-week-old male wild-type and mdx mice, ventilation and metabolism, carotid body afferent activity, diaphragm muscle force-generating capacity, and muscle fibre size, distribution and centronucleation were determined. Diaphragm EMG activity and responsiveness to chemostimulation was determined. During normoxia, mdx mice hypoventilated, owing to a reduction in tidal volume. Basal CO 2 production was not different between wild-type and mdx mice. Carotid sinus nerve responses to hyperoxia were blunted in mdx, suggesting hypoactivity. However, carotid body, ventilatory and metabolic responses to hypoxia were equivalent in wild-type and

  6. Respiratory Syncytial Virus (RSV)

    Centers for Disease Control (CDC) Podcasts

    2013-02-04

    Respiratory Syncytial Virus, or RSV, causes cold-like symptoms but can be serious for infants and older adults. In this podcast, CDC’s Dr. Eileen Schneider discusses this common virus and offers tips to prevent its spread.  Created: 2/4/2013 by National Center for Immunization and Respiratory Diseases (NCIRD), Division of Viral Diseases (DVD).   Date Released: 2/13/2013.

  7. Obesity and respiratory diseases

    OpenAIRE

    Zammit, Christopher; Liddicoat, Helen; Moonsie, Ian; Makker, Himender

    2010-01-01

    Christopher Zammit, Helen Liddicoat, Ian Moonsie, Himender MakkerSleep and Ventilation Unit, Department of Respiratory Medicine, North Middlesex University Hospital, London, UKAbstract: The obesity epidemic is a global problem, which is set to increase over time. However, the effects of obesity on the respiratory system are often underappreciated. In this review, we will discuss the mechanical effects of obesity on lung physiology and the function of adipose tissue as an endocrine organ produ...

  8. Acute respiratory distress syndrome

    OpenAIRE

    Confalonieri, Marco; Salton, Francesco; Fabiano, Francesco

    2017-01-01

    Since its first description, the acute respiratory distress syndrome (ARDS) has been acknowledged to be a major clinical problem in respiratory medicine. From July 2015 to July 2016 almost 300 indexed articles were published on ARDS. This review summarises only eight of them as an arbitrary overview of clinical relevance: definition and epidemiology, risk factors, prevention and treatment. A strict application of definition criteria is crucial, but the diverse resource-setting scenarios foste...

  9. Respiratory Syncytial Virus Vaccines

    OpenAIRE

    Dudas, Robert A.; Karron, Ruth A.

    1998-01-01

    Respiratory syncytial virus (RSV) is the most important cause of viral lower respiratory tract illness (LRI) in infants and children worldwide and causes significant LRI in the elderly and in immunocompromised patients. The goal of RSV vaccination is to prevent serious RSV-associated LRI. There are several obstacles to the development of successful RSV vaccines, including the need to immunize very young infants, who may respond inadequately to vaccination; the existence of two antigenically d...

  10. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Wein, Nicolas; Alfano, Lindsay; Flanigan, Kevin M

    2015-06-01

    Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

    International Nuclear Information System (INIS)

    Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi; Kawasaki, Shoichiro; Imamura, Shigehiro.

    1983-01-01

    We analyzed the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin and a decrease in the γ-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, γ-globulin fraction is shown in the myotonic dystrophy. In addition to the abnormality of IQ, EEG, and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy. (author)

  12. CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

    Energy Technology Data Exchange (ETDEWEB)

    Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi (Kumamoto Univ. (Japan). School of Medicine); Kawasaki, Shoichiro; Imamura, Shigehiro

    1983-06-01

    We analyzed the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin and a decrease in the ..gamma..-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, ..gamma..-globulin fraction is shown in the myotonic dystrophy. In addition to the abnormality of IQ, EEG, and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy.

  13. MR imaging of fukuyama congenital muscular dystrophy; a case report

    International Nuclear Information System (INIS)

    Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk

    2000-01-01

    Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature

  14. Resistance training in patients with limb-girdle and becker muscular dystrophies

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Andersen, Søren P; Ingelsrud, Lina H

    2013-01-01

    In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD).......In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD)....

  15. [Supplementary device for a dynamometer to evaluate and register muscular endurance indices].

    Science.gov (United States)

    Timoshenko, D A; Bokser, O Ia

    1986-01-01

    In practice of psychophysiologic research muscular endurance index is used for estimation of CNS function. Muscular endurance index is defined as relative time needed for maintaining the preset muscular effort. The described device widens the possibilities of a digital dynamometer for automatic estimation and recording of muscular endurance index in real time.

  16. Managing respiratory problems in athletes.

    Science.gov (United States)

    Hull, James H; Ansley, Les; Robson-Ansley, Paula; Parsons, Jonathan P

    2012-08-01

    Respiratory problems are common in athletes of all abilities and can significantly impact upon their health and performance. In this article, we provide an overview of respiratory physiology in athletes. We also discuss the assessment and management of common clinical respiratory conditions as they pertain to athletes, including airways disease, respiratory tract infection and pneumothorax. We focus on providing a pragmatic approach and highlight important caveats for the physician treating respiratory conditions in this highly specific population.

  17. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, Edo M.; Ginjaar, Ieke B.; Bakker, Egbert; de Visser, Marianne

    2005-01-01

    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in

  18. Experimental investigation of muscular neurotization in the rat.

    Science.gov (United States)

    Must, R

    1987-01-01

    Reinnervation of a free muscle graft by nerves from an adjacent intact muscle is called muscular neurotization. This paper investigates the mechanisms and stimuli responsible for muscular neurotization in the rat. Sternohyoid or sternomastoid muscles were transplanted as free muscle grafts to the ventral surface of an intact sternohyoid muscle (feeder muscle). After several weeks the graft and underlying feeder muscle were removed together, frozen, serially sectioned, stained, and carefully examined for the presence or absence of nerves. It was concluded from a series of experiments that in this model muscular neurotization is a form of nerve regeneration. In order for muscular neurotization to occur, it is necessary to have (1) injury to the nerves of the intact feeder muscle and (2) a pathway upon which the regenerating nerves may grow into the graft.

  19. A new chart for weight control in Duchenne muscular dystrophy.

    OpenAIRE

    Griffiths, R D; Edwards, R H

    1988-01-01

    Weight control is desirable in the muscle wasting conditions. A new chart is presented to allow the prediction of an ideal weight, free of excess fat, specifically for boys with Duchenne muscular dystrophy.

  20. Nonmuscular involvement in merosin-negative congenital muscular dystrophy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Donkelaar, H.J. ten; Tanke, R.B.; Vingerhoets, D.M.; Zwarts, M.J.; Verrips, A.; Gabreëls, F.J.M.

    2002-01-01

    The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal

  1. How Physicians Support Mothers of Children with Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Fujino, Haruo; Saito, Toshio; Matsumura, Tsuyoshi; Shibata, Saki; Iwata, Yuko; Fujimura, Harutoshi; Shinno, Susumu; Imura, Osamu

    2015-09-01

    Communicating about Duchenne muscular dystrophy and its prognosis can be difficult for affected children and their family. We focused on how physicians provide support to the mothers of children with Duchenne muscular dystrophy who have difficulty communicating about the condition with their child. The eligible participants were certified child neurologists of the Japanese Society of Child Neurology. Participants responded to questionnaires consisting of free descriptions of a vignette of a child with Duchenne muscular dystrophy and a mother. We analyzed 263 responses of the participants. We found 4 themes on advising mothers, involving encouraging communication, family autonomy, supporting family, and considering the child's concerns. These results provide a better understanding of the communication between physicians and family members who need help sharing information with a child with Duchenne muscular dystrophy. These findings will assist clinical practitioners in supporting families and the affected children throughout the course of their illness. © The Author(s) 2015.

  2. Predictive factors for masticatory performance in Duchenne muscular dystrophy

    NARCIS (Netherlands)

    Bruggen, H.W. van; Engel-Hoek, L. van den; Steenks, M.H.; Bronkhorst, E.M.; Creugers, N.H.; Groot, I.J.M. de; Kalaykova, S.

    2014-01-01

    Patients with Duchenne muscular dystrophy (DMD) report masticatory and swallowing problems. Such problems may cause complications such as choking, and feeling of food sticking in the throat. We investigated whether masticatory performance in DMD is objectively impaired, and explored predictive

  3. Strength training and albuterol in facioscapulohumeral muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, EL; Vogels, OJM; van Asseldonk, RJGP; Lindeman, E; Hendriks, JCM; Wohlgemuth, M; van der Maarel, SM; Padberg, GW

    2004-01-01

    Background: In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of

  4. [Changes in clinical condition and causes of death of inpatients with Duchenne muscular dystrophy in Japan from 1999 to 2012].

    Science.gov (United States)

    Saito, Toshio; Tatara, Katsunori; Kawai, Mitsuru

    2014-01-01

    To elucidate changes in medical treatment for Duchenne muscular dystrophy (DMD) in Japan, we analyzed the clinical courses and causes of death of inpatients with DMD registered in the muscular dystrophy ward database of 27 hospitals in Japan specializing in muscular dystrophy treatment since 1999. The total number of hospitalized cases in 1999 was 873, which gradually reduced to 733 in 2012. The mean age of DMD patients in 1999 was 23.6 years old, while that was 30.1 years old in 2012, with patients 40 years and older accounting for 94 cases in the latest year. The respirator dependent rate gradually increased from 58.6% in 1999 to 86.1% in 2012. Artificial respiration therapy was introduced earlier in more recent years and the mean age in recent years was shown to be 17.2 years old. The oral nutritional supply rate in 1999 was 95.1%, which fell to 66.8% in 2012, while gastrostomy feeding gradually increased to 129 cases in 2012. The rate of clinical diagnosis of DMD was 52.3% in 1999 and decreased to 43.7% in 2012, which showed progress towards more accurate diagnosis of DMD. From 2000 to 2012, 521 deaths were reported, with approximately half of the causes heart related, followed by respiratory related. The mean age of death gradually increased to 32.4 years old in 2012 from 26.7 years old in 2000. The mean age of survival of all DMD patients was 37.5 years old. Progress in multidisciplinary medical care for respiratory failure, cardiomyopathy, nutritional problems, and other related factors has extended the lifespan of DMD patients.

  5. Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

    Directory of Open Access Journals (Sweden)

    Sylvio Saraiva

    1960-09-01

    Full Text Available The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita, congenital acute anterior poliomyelitis, anthro-griposis multiplex, von Gierke's disease, central core disease, chronical polymyositis and dermatomyositis, thyrotoxic myopathy and menopausal dys- trophy. The importance of muscle biopsy in the differential diagnosis is emphasized.

  6. Duchenne muscular dystrophy with associated growth hormone deficiency

    International Nuclear Information System (INIS)

    Ghafoor, T.; Mahmood, A.; Shams, S.

    2003-01-01

    A patient with duchenne muscular dystrophy (DMD) and growth hormone (GH) deficiency is described who had no clinical evidence of muscular weakness before initiation of GH replacement therapy. Treatment with human GH resulted in appearance of symptoms of easy fatigability and muscle weakness. Thorough investigations including serum creating phosphokinase (CK) levels in recommended in every patient with GH deficiency before starting GH replacement therapy. (author)

  7. Obesity and respiratory diseases

    Directory of Open Access Journals (Sweden)

    Christopher Zammit

    2010-10-01

    Full Text Available Christopher Zammit, Helen Liddicoat, Ian Moonsie, Himender MakkerSleep and Ventilation Unit, Department of Respiratory Medicine, North Middlesex University Hospital, London, UKAbstract: The obesity epidemic is a global problem, which is set to increase over time. However, the effects of obesity on the respiratory system are often underappreciated. In this review, we will discuss the mechanical effects of obesity on lung physiology and the function of adipose tissue as an endocrine organ producing systemic inflammation and effecting central respiratory control. Obesity plays a key role in the development of obstructive sleep apnea and obesity hypoventilation syndrome. Asthma is more common and often harder to treat in the obese population, and in this study, we review the effects of obesity on airway inflammation and respiratory mechanics. We also discuss the compounding effects of obesity on chronic obstructive pulmonary disease (COPD and the paradoxical interaction of body mass index and COPD severity. Many practical challenges exist in caring for obese patients, and we highlight the complications faced by patients undergoing surgical procedures, especially given the increased use of bariatric surgery. Ultimately, a greater understanding of the effects of obesity on the respiratory disease and the provision of adequate health care resources is vital in order to care for this increasingly important patient population.Keywords: obesity, lung function, obstructive sleep apnea, obesity hypoventilation syndrome, anesthesia

  8. Muscle Dysmorphia and the Perception of Men's Peer Muscularity Preferences.

    Science.gov (United States)

    Lin, Linda; DeCusati, Frank

    2016-11-01

    Research suggests that peer muscularity norms preferences are related to men's body image, but little information is known about how perceptions of specific peer group norms preferences are related to men's body image disturbances and specific health behaviors. This study investigated how men perceived the muscularity preferences of male, female, close, and distant peers and whether the perceptions of specific peer preferences were related to muscle dysmorphia and steroid use. Data on muscle dysmorphia and the perceptions of peer muscularity norms were collected from 117 male college students. Results indicated that men perceived distant and male peers as having the most exaggerated preferences for muscularity and that those perceptions were not an accurate reflection of their distant male peers' reported preferences. Results also indicated that perceptions of close female peer muscularity preferences were predictive of symptoms of muscle dysmorphia, but this relationship did not exist for other peer groups, suggesting that the perceptions of close female peer preferences may play a role in the development of muscle dysmorphia. No relationship was found between perceptions of peer muscularity preferences and steroid use. © The Author(s) 2015.

  9. Oxidative muscular injury and its relevance to hyperthyroidism.

    Science.gov (United States)

    Asayama, K; Kato, K

    1990-01-01

    In experimental hyperthyroidism, acceleration of lipid peroxidation occurs in heart and slow-oxidative muscles, suggesting the contribution of reactive oxygen species to the muscular injury caused by thyroid hormones. This article reviews various models of oxidative muscular injury and considers the relevance of the accompanying metabolic derangements to thyrotoxic myopathy and cardiomyopathy, which are the major complications of hyperthyroidism. The muscular injury models in which reactive oxygen species are supposed to play a role are ischemia/reperfusion syndrome, exercise-induced myopathy, heart and skeletal muscle diseases related to the nutritional deficiency of selenium and vitamin E and related disorders, and genetic muscular dystrophies. These models provide evidence that mitochondrial function and the glutathione-dependent antioxidant system are important for the maintenance of the structural and functional integrity of muscular tissues. Thyroid hormones have a profound effect on mitochondrial oxidative activity, synthesis and degradation of proteins and vitamin E, the sensitivity of the tissues to catecholamine, the differentiation of muscle fibers, and the levels of antioxidant enzymes. The large volume of circumstantial evidence presented here indicates that hyperthyroid muscular tissues undergo several biochemical changes that predispose them to free radical-mediated injury.

  10. Quantitative analysis of muscular wastings of lower limbs in Duchenne muscular dystrophy by computed tomography

    International Nuclear Information System (INIS)

    Horikawa, Hirosei; Konagaya, Masaaki; Takayanagi, Tetsuya; Otsuji, Hideaki

    1985-01-01

    We quantitatively evaluated the muscular wastings of lower extremities in Duchenne muscular dystrophy (DMD) by computed tomography (CT). The subjects were 21 cases of DMD (an ambulant case and 20 wheelchair-ridden cases, ages ranging from 10 to 21 years old) and 4 control males. The CT scan was carried out at the mid-level between lesser trochanter and medial condyle of femur and the largest diameter level of lower leg. The density and the cross-sectional area of each muscle were measured on the CT image. The average CT number of normal muscle was varying from 40 to 60, as well as that of fat was -115. Then we calculated CT index of each muscle denoted as follows: CT index = [average CT number of muscle-(-115)] X(cross-sectional area of each muscle). The measurements of muscle strength and serum CK level were performed and their relationships to CT index were examined. The results were achieved as follows: 1) Wheelchair-ridden cases with DMD showed severe decrease in the average CT number and the CT index of each muscle with normal controls. With progression, the average CT number and the CT index were reduced. But gracilis muscle and sartorius muscle were relatively spared in comparison with other muscles. 2) There was positive correlation between the CT index and the muscle strength in triceps surae muscle, hamstrings muslce and quardriceps femoris muscle. 3) The CT index of whole thigh muscles and that of whole lower leg muscles were highly correlated to serum CK level. These results suggest that the quantitative analysis of muscle CT is an useful measurement for assessement of muscular wastings in DMD. (author)

  11. Muscular anatomy of the human ventricular folds.

    Science.gov (United States)

    Moon, Jerald; Alipour, Fariborz

    2013-09-01

    Our purpose in this study was to better understand the muscular anatomy of the ventricular folds in order to help improve biomechanical modeling of phonation and to better understand the role of these muscles during phonatory and nonphonatory tasks. Four human larynges were decalcified, sectioned coronally from posterior to anterior by a CryoJane tape transfer system, and stained with Masson's trichrome. The total and relative areas of muscles observed in each section were calculated and used for characterizing the muscle distribution within the ventricular folds. The ventricular folds contained anteriorly coursing thyroarytenoid and ventricularis muscle fibers that were in the lower half of the ventricular fold posteriorly, and some ventricularis muscle was evident in the upper and lateral portions of the fold more anteriorly. Very little muscle tissue was observed in the medial half of the fold, and the anterior half of the ventricular fold was largely devoid of any muscle tissue. All 4 larynges contained muscle bundles that coursed superiorly and medially through the upper half of the fold, toward the lateral margin of the epiglottis. Although variability of expression was evident, a well-defined thyroarytenoid muscle was readily apparent lateral to the arytenoid cartilage in all specimens.

  12. Optimizing Bone Health in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Jason L. Buckner

    2015-01-01

    Full Text Available Duchenne muscular dystrophy (DMD is an X-linked recessive disorder characterized by progressive muscle weakness, with eventual loss of ambulation and premature death. The approved therapy with corticosteroids improves muscle strength, prolongs ambulation, and maintains pulmonary function. However, the osteoporotic impact of chronic corticosteroid use further impairs the underlying reduced bone mass seen in DMD, leading to increased fragility fractures of long bones and vertebrae. These serious sequelae adversely affect quality of life and can impact survival. The current clinical issues relating to bone health and bone health screening methods in DMD are presented in this review. Diagnostic studies, including biochemical markers of bone turnover and bone mineral density by dual energy X-ray absorptiometry (DXA, as well as spinal imaging using densitometric lateral spinal imaging, and treatment to optimize bone health in patients with DMD are discussed. Treatment with bisphosphonates offers a method to increase bone mass in these children; oral and intravenous bisphosphonates have been used successfully although treatment is typically reserved for children with fractures and/or bone pain with low bone mass by DXA.

  13. Respiratory manifestations of hypothyroidism

    DEFF Research Database (Denmark)

    Sorensen, Jesper Roed; Winther, Kristian Hillert; Bonnema, Steen Joop

    2016-01-01

    BACKGROUND: Hypothyroidism has been associated with increased pulmonary morbidity and overall mortality. We conducted a systematic review to identify the prevalence and underlying mechanisms of respiratory problems among patients with thyroid insufficiency. METHODS: PubMed and EMBASE databases were...... searched for relevant literature from January 1950 through January 2015 with study eligibility criteria: English-language publications; Adult subclinical or overt hypothyroid patients; Intervention, observational or retrospective studies; and respiratory manifestations. We followed the PRISMA statement...... and used the Cochrane's risk of bias tool. RESULTS: A total of 1699 papers were screened by two independent authors for relevant titles. Of 109 relevant abstracts, 28 papers underwent full text analyses, of which 22 were included in the review. We identified possible mechanisms explaining respiratory...

  14. Respiratory care manpower issues.

    Science.gov (United States)

    Mathews, Paul; Drumheller, Lois; Carlow, John J

    2006-03-01

    Although respiratory care is a relatively new profession, its practitioners are deeply involved in providing patient care in the critical care. In preparation for writing this article, we sought to explore the respiratory therapy manpower needs and activities designed to fulfill those needs in critical care practice. We began by delineating the historical development of respiratory care as a profession, the development of its education, and the professional credentialing system. We then conducted several literature reviews with few articles generated. We requested and received data from the American Association for Respiratory Care (AARC), The National Board for Respiratory Care (NBRC), and the Committee on Accreditation of Respiratory Care education (CoARC) relative to their membership, number of credentialed individuals, and educational program student and graduate data for 2000 through 2004. We then conducted two electronic surveys. Survey 1 was a six-item survey that examined the use of mandatory overtime in respiratory care departments. We used a convenience sample of 30 hospitals stratified by size (or=500 beds). Survey 2 was a five-item instrument distributed by blast E-mail to the Society of Critical Care Medicine's Respiratory Care Section members and members of the RC_World list serve. This survey elicited 51 usable and non-duplicative responses from geographically and size-varied institutions. We analyzed these data in several ways from distribution analysis to one-way analysis of variance procedure and appropriate post hoc analysis techniques. Where appropriate, a matched-pairs analysis was performed and these were compared across the variables intensive care unit (ICU) beds per actual number of respiratory care practitioners (RCPs) and ICU beds per preferred number of RCPs. The data gathered from the professional organizations indicated a relatively stable attrition rate (35.2%+/-1.7-3.1%), even in the face of varying enrollments (6,231 in 2004 vs. 4

  15. Evaluation of myocardial damage in Duchenne's muscular dystrophy with thallium-201 myocardial SPECT

    Energy Technology Data Exchange (ETDEWEB)

    Tamura, Takuhisa; Shibuya, Noritoshi (Kawatana National Hospital, Nagasaki (Japan)); Hashiba, Kunitake; Oku, Yasuhiko; Mori, Hideki; Yano, Katsusuke

    1993-01-01

    Myocardial damage and cardiopulmonary functions in patients with Duchenne's muscular dystrophy (DMD) were assessed using thallium-201 myocardial single-photon emission computed tomography (SPECT) and technetium-99m multigated radionuclide angiography. Twenty-five patients with DMD were divided into 4 groups according to percent of perfusion defect (%PD) calculated by the bull's-eye method and age. PD was detected in 24 (96.0%) of 25 patients with DMD, and it spread from the left ventricular lateral wall to the anterior wall and/or interventricular septum. PD was detected even in a 6-year-old DMD boy. Patients in Group I (%PD[>=]10% and age<15 years old) were shown to have a higher risk of left-sided heart failure without respiratory failure. Patients in Group II (%PD[>=]10 and age[>=]15) showed decreased pulmonary function and worsened arterial blood gas values as compared with Group IV (%PD<10 and age[>=]15). There was no significant difference in cardiac function among the 4 groups. It is postulated that myocardial damage in Group II patients is dependent primarily on a deficiency of dystrophin and on chronic respiratory failure, and that some of them are at risk of cardiopulmonary failure. It is concluded that myocardial SPECT is useful for the early diagnosis of myocardial damage and evaluation of cardiopulmonary function in DMD patients. (author).

  16. Evaluation of myocardial damage in Duchenne's muscular dystrophy with thallium-201 myocardial SPECT

    International Nuclear Information System (INIS)

    Tamura, Takuhisa; Shibuya, Noritoshi; Hashiba, Kunitake; Oku, Yasuhiko; Mori, Hideki; Yano, Katsusuke.

    1993-01-01

    Myocardial damage and cardiopulmonary functions in patients with Duchenne's muscular dystrophy (DMD) were assessed using thallium-201 myocardial single-photon emission computed tomography (SPECT) and technetium-99m multigated radionuclide angiography. Twenty-five patients with DMD were divided into 4 groups according to percent of perfusion defect (%PD) calculated by the bull's-eye method and age. PD was detected in 24 (96.0%) of 25 patients with DMD, and it spread from the left ventricular lateral wall to the anterior wall and/or interventricular septum. PD was detected even in a 6-year-old DMD boy. Patients in Group I (%PD≥10% and age<15 years old) were shown to have a higher risk of left-sided heart failure without respiratory failure. Patients in Group II (%PD≥10 and age≥15) showed decreased pulmonary function and worsened arterial blood gas values as compared with Group IV (%PD<10 and age≥15). There was no significant difference in cardiac function among the 4 groups. It is postulated that myocardial damage in Group II patients is dependent primarily on a deficiency of dystrophin and on chronic respiratory failure, and that some of them are at risk of cardiopulmonary failure. It is concluded that myocardial SPECT is useful for the early diagnosis of myocardial damage and evaluation of cardiopulmonary function in DMD patients. (author)

  17. The anticancer drug tamoxifen counteracts the pathology in a mouse model of duchenne muscular dystrophy.

    Science.gov (United States)

    Dorchies, Olivier M; Reutenauer-Patte, Julie; Dahmane, Elyes; Ismail, Heham M; Petermann, Olivier; Patthey- Vuadens, Ophélie; Comyn, Sophie A; Gayi, Elinam; Piacenza, Tony; Handa, Robert J; Décosterd, Laurent A; Ruegg, Urs T

    2013-02-01

    Duchenne muscular dystrophy (DMD) is a severe disorder characterized by progressive muscle wasting,respiratory and cardiac impairments, and premature death. No treatment exists so far, and the identification of active substances to fight DMD is urgently needed. We found that tamoxifen, a drug used to treat estrogen-dependent breast cancer, caused remarkable improvements of muscle force and of diaphragm and cardiac structure in the mdx(5Cv) mouse model of DMD. Oral tamoxifen treatment from 3 weeks of age for 15 months at a dose of 10 mg/kg/day stabilized myofiber membranes, normalized whole body force, and increased force production and resistance to repeated contractions of the triceps muscle above normal values. Tamoxifen improved the structure of leg muscles and diminished cardiac fibrosis by~ 50%. Tamoxifen also reduced fibrosis in the diaphragm, while increasing its thickness,myofiber count, and myofiber diameter, thereby augmenting by 72% the amount of contractile tissue available for respiratory function. Tamoxifen conferred a markedly slower phenotype to the muscles.Tamoxifen and its metabolites were present in nanomolar concentrations in plasma and muscles,suggesting signaling through high-affinity targets. Interestingly, the estrogen receptors ERa and ERb were several times more abundant in dystrophic than in normal muscles, and tamoxifen normalized the relative abundance of ERb isoforms. Our findings suggest that tamoxifen might be a useful therapy for DMD.

  18. Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

    Directory of Open Access Journals (Sweden)

    Luciano Merlini

    2011-01-01

    Full Text Available Six individuals with Ullrich congenital muscular dystrophy (UCMD and mutations in the genes-encoding collagen VI, aging 5–9, received 3–5 mg/kg of cyclosporine A (CsA daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P=0.01 in 5 of the 6 patients. Motor function did not change. Respiratory function deteriorated in all. CsA treatment corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic nuclei. Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients, and that it is well tolerated. These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised.

  19. Serum Creatinine Level: A Supplemental Index to Distinguish Duchenne Muscular Dystrophy from Becker Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Huili Zhang

    2015-01-01

    Full Text Available Background. To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn level reflects disease severity. Methods. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Results. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r=-0.793 and partial correlation analysis after adjustment for age, height, and weight (r=-0.791; both P<0.01. Serum Crn level was significantly higher in patients with in-frame than out-of-frame mutations (Z=-4.716, P<0.01 and in Becker muscular dystrophy (BMD patients than Duchenne muscular dystrophy (DMD patients at ages 4, 5, 7, and 9 yr (all P<0.0125. After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β=7.140, t=6.277, P<0.01. Conclusions. Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

  20. [Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy].

    Science.gov (United States)

    Magot, A; Mercier, S; Péréon, Y

    2015-12-01

    Becker muscular dystrophy (BMD) was first described in 1955 and linked to the DMD gene in 1987. Compared to Duchenne muscular dystrophy (DMD), clinical onset of BMD usually occurs after the age of 12 and wheelchair is required after the age of 16. BMD is characterized by generalized weakness first affecting limb girdle muscles, hypertrophy of the calves and cardiomyopathy in males. Some patients have only mild symptoms such as cramps or elevated serum creatine kinases (SCK) throughout all their lives. SCK levels are usually elevated. Muscle biopsy (immunohistochemistry or immunoblotting) shows a dystrophic pattern with abnormal dystrophin staining. Diagnosis is confirmed by DMD gene sequencing. Deletions or duplications of one or several exons are identified in the majority of cases. A multidisciplinary approach is recommended for the care management of these patients with a particular attention to the cardiomyopathy, which is typically responsible for death but can be prevented by specific treatment. X-linked dilated cardiomyopathies linked to DMD gene are a phenotypic continuum of BMD. Some female carriers of DMD mutations exhibit clinical symptoms of variable severity, often milder and beginning later than in males. The cardiomyopathy is the most frequent feature that should be especially monitored in these patients. Genetic counselling should be systematically proposed. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  1. Distrofia muscular nutricional em ovinos na Paraíba Nutritional muscular dystrophy in sheep in Paraíba

    Directory of Open Access Journals (Sweden)

    Sara Lucena Amorim

    2005-06-01

    , weighing 30-40 kg, were fed ad libitum with milk, concentrated ration, Tifton hay, and a mineral mixture. Six out of 70 lambs were affected and died in the first 48 hours after the onset of the outbreak. Clinical signs were fever of 40-41ºC, incoordination followed by paralysis and recumbence, depression, prostration with decreased pupillary and corneal reflexes, decreased tonus of the tongue and maxilla, salivation, submaxillar edema, and increased cardiac and respiratory rates. Death occurred after a clinical manifestation period of 6-12 hours. At necropsy of three animals, skeletal muscles were pale, the liver was yellowish and enlarged, the parotid, submaxillary, retropharyngeal, prescapular and mediastinal lymph nodes were enlarged with red surface, and red areas were observed on the lung surface. On histology, segmental muscular necrosis was observed in all skeletal muscles examined. The liver had centrilobular fatty degeneration, and congestion was observed in the lung and lymph nodes. From 48-96 hours after the begin of the outbreak, another 3 animals were affected. They were treated with Vitamin A, E and D complex; two of them died and one survived. On the same farm, a flock of 20 Santa Inês sheep of the same age as the affected animals, fed with the same food, but no milk, and another 900 sheep of different ages were not affected. The over nutrition of sheep with fast growing rates, and the stress caused by two days of water restriction to improve milk consumption had been predisposing factors for the occurrence of the disease. It is also possible that some of the minerals supplemented interfered with selenium availability.

  2. The microbiota of the respiratory tract : Gatekeeper to respiratory health

    NARCIS (Netherlands)

    Man, Wing Ho; De Steenhuijsen Piters, Wouter A.A.; Bogaert, Debby

    2017-01-01

    The respiratory tract is a complex organ system that is responsible for the exchange of oxygen and carbon dioxide. The human respiratory tract spans from the nostrils to the lung alveoli and is inhabited by niche-specific communities of bacteria. The microbiota of the respiratory tract probably acts

  3. Adult respiratory distress syndrome

    International Nuclear Information System (INIS)

    Svendsen, J.; Jespersen, J.; Skjoedt, T.

    1986-01-01

    Our present-day knowledge concerning the clinico-chemical and radiological findings in adult respiratory distress syndrome are described. Three typical case histories have been selected to illustrate this condition; they were due to multiple trauma or sepsis. It is stressed that radiology is in a key position for making the diagnosis and for observing the course of the illness. (orig) [de

  4. European Respiratory Society statement

    DEFF Research Database (Denmark)

    Miravitlles, Marc; Dirksen, Asger; Ferrarotti, Ilaria

    2017-01-01

    lung disease. A large proportion of individuals affected remain undiagnosed and therefore without access to appropriate care and treatment.The most recent international statement on AATD was published by the American Thoracic Society and the European Respiratory Society in 2003. Since then there has...

  5. Respiratory Syncytial Virus (RSV)

    Centers for Disease Control (CDC) Podcasts

    Respiratory Syncytial Virus, or RSV, causes cold-like symptoms but can be serious for infants and older adults. In this podcast, CDC’s Dr. Eileen Schneider discusses this common virus and offers tips to prevent its spread.

  6. Respiratory problems in foals.

    Science.gov (United States)

    Beech, J

    1985-04-01

    Despite major advances in our knowledge and ability to treat respiratory diseases in neonatal foals, neonatal respiratory medicine is still in its infancy. It is hoped that this article may serve as a guideline for diagnosis and treatment. Specific antibiotic regimens and emergency procedures are covered in other articles in this symposium. Because management factors play a critical role in the pathogenesis of respiratory disease, education of clients as to their importance would help both prophylactically and therapeutically. The necessity of very careful monitoring of neonates, which is critical to early detection of disease, should be stressed. As respiratory diseases can be fulminant and rapidly fatal, it is imperative not to delay diagnosis and therapy. Thorough examination and implementation of appropriate diagnostic techniques, as well as prompt early referral to a more sophisticated facility when indicated, would prevent many deaths. Although sophisticated support systems are vital for survival of some of these foals, good basic intensive nursing care combined with selection of appropriate drug therapy very early in the course of the disease is all that many foals require and can significantly improve survival rates.

  7. Respiratory Symptoms in Firefighters

    NARCIS (Netherlands)

    Greven, Frans E.; Rooyackers, Jos M.; Kerstjens, Huib A. M.; Heederik, Dick J.

    Background The aim of the present study was to determine the prevalence and risk factors associated with respiratory symptoms in common firefighters in the Netherlands. Methods A total of 1,330 firefighters from the municipal fire brigades of three provinces of the Netherlands were included in the

  8. Textbook of respiratory medicine

    International Nuclear Information System (INIS)

    Murray, J.F.; Nadel, J.

    1987-01-01

    This book presents a clinical reference of respiratory medicine. It also details basic science aspects of pulmonary physiology and describes recently developed, sophisticated diagnostic tools and therapeutic methods. It also covers anatomy, physiology, pharmacology, and pathology; microbiologic, radiologic, nuclear medicine, and biopsy methods for diagnosis

  9. Computed tomography in Duchenne type muscular dystrophy

    International Nuclear Information System (INIS)

    Kawai, Mitsuru; Kunimoto, Masanari; Motoyoshi, Yasufumi; Kuwata, Takashi; Nakano, Imaharu

    1985-01-01

    The computed tomography (CT) scan was performed on 91 Duchenne type muscular dystrophy (DMD) patients on the following four levels; (1) at the level of L3 vertebra, (2) 2-3cm above the symphysis pubica, (3) midposition of the thigh, (4) largest-diameter section of the lower leg. The CT of muscles common to most of the DMD patients were as follows: 1. Muscle atrophy: Muscle atrophy was shown as a reduction in the cross-sectional area of the muscles. Very mild muscle atrophy could be detected either by the clearly identified muscle border or by scattered low-density areas of so-called ''moth-eaten'' appearance within muscles. 2. Fat infiltration: The decrease in radio-density of muscles was interpreted as infiltration of fatty tissue. This type of density change was further classified into diffuse, streaked, cobblestone and salt-and-pepper patterns according to the spacial distribution of low-density areas. 3. Selectivity pattern: As the chronological sequence of DMD muscle degeneration is usually different among individual muscles, it may be seen, in some stages, that some of the synergistic muscles are still only slightly involved, while the others are quite severely atrophied with evident fat infiltration. In certain stages of the disease, most of the patients show relative preservation of particular muscles although they assumed a rounded shape. The most resistent muscle was musculus gracilis, followed by the musculus sartorius, musculus semitendinosus (and/or musculus semimembranosus) in that order. According to the severity of the CT changes, 86 of the 91 patients were classed into five stages from A1 to A5. Morphological stages (A1-A5) were well correlated to the functional disability stages by Ueda with a correlation factor of r=0.88. (J.P.N.)

  10. NMR-CT in muscular disorders

    International Nuclear Information System (INIS)

    Matsumura, Kiichiro; Nakano, Imaharu; Fukuda, Nobuo; Ikehira, Hiroo; Tateno, Yukio.

    1987-01-01

    Proton NMR-CT (magnetic field strength 0.1 Tesla, resonant frequency 4.5 MHz) was performed in 10 normal females and 19 Duchenne muscular dystrophy (DMD) carriers. The mean age was 39 ± 12 years for the normal females and 42 ± 6 years for the DMD carriers. In DMD carriers, there were 4 definite, 4 probable, and 11 possible carriers. T 1 (spin-lattice relaxation time) image was obtained for a slice at the buttock, mid-thigh and calf levels respectively. T 1 values were measured for the medial portion of the gluteus maximus, the vastus lateralis of the quadriceps femoris, and the gastrocnemius. The bound water fraction (BWF) was calculated from Fullerton's equation based on the fast proton diffusion model. The following results were obtained: (1) In normal females, muscle T 1 value was highest in the gastrocnemius and lowest in the gluteus maximus. (2) In DMD carriers, T 1 values of the gluteus maximus and quadriceps femoris were significantly higher than those of the normal females. There was, however, no significant difference in T 1 value of the gastrocnemius between DMD carriers and normal females. (3) In DMD carriers, BWFs of the gluteus maximus and quadriceps femoris were significantly lower than those of the normal females. (4) In DMD carriers, no significant correlation was observed between the muscle T 1 values and the serum creatine phosphokinase values. Increased tissue water content in the lower parts of the body due to gravity is considered to be the primary cause of the high T 1 value in the gastrocnemius of normal females. The presence of the degenerating muscle fibers are presumed responsible for the high T 1 value and low BWF in the proximal muscles of DMD carriers. (author)

  11. NMR-CT in muscular disorders

    International Nuclear Information System (INIS)

    Matsumura, Kiichiro; Nakano, Imaharu; Ikehira, Hiroo; Fukuda, Nobuo; Tateno, Yukio.

    1986-01-01

    Proton NMR-CT (magnetic field strength 0.1 Tesla, resonant frequency 4.5 MHz) was performed in 15 normal (NC) and 20 Duchenne muscular dystrophy (DMD) males. The age ranged from 3 to 47 years for the NC males, and 1 to 14 years for the DMD males. In the DMD group there were one subclinical stage, 4 stage 1, 6 stage 2, 4 stage 3, and 5 stage 5 or higher patients. T 1 (longitudinal relaxation) images were obtained for three slices at the buttock, midthigh, and calf levels. The T 1 values were measured for the medial portion of the gluteus maximus, the vastus lateralis of the quadriceps femoris, the adductors, the sartorius, the gracilis, and the gastrocnemius muscles. Bound water fraction (BWF) was calculated from Fullerton's equation based on the fast diffusion model. The following results were obtained: (1) In the NC group, muscle T 1 values declined gradually with maturation under the age of 10, and became constant beyond that. The average T 1 value was 280 ms for the age group between 3 and 6 years, 270 ms for 7 and 10 years, and 260 ms for those older than 10 years. (2) Muscle BWF increased with maturation in the NC group. (3) In the DMD group, T 1 values were initially higher than normal (300 ms), declined rapidly with the progress of the disease, and reached the same low level as the subcutaneous fat (190 ms). (4) This decrease of T 1 value in DMD was not uniform for all muscles, being most prominent in the gluteus maximus and least so in the sartorius and gracilis. (5) In the early stages of DMD, the BWF was lower than normal. (J.P.N.)

  12. Congenital muscular dystrophies--problems of classification.

    Science.gov (United States)

    Lenard, H G

    1991-04-01

    The classification of congenital muscular dystrophies (CMD), based on perceived clinical and morphological similarities or differences, is controversial. CMD without cerebral involvement has sometimes been divided into a mild and a severe form. This distinction is, however, arbitrary and not uncontested. Whether Ullrich's disease, formerly called atonic-sclerotic dystrophy, is a disease entity and if so, whether it is a primary muscle disorder, is uncertain. CMD without cerebral involvement is inherited in an autosomal recessive fashion in the great majority of cases. CMDs with cerebral involvement are usually classified into at least three forms: the Fukuyama type of CMD, occurring almost exclusively in Japanese patients; CMD with hypomyelination, sometimes also called the occidental type of cerebromuscular dystrophy; and Walker-Warburg syndrome. Muscle-eye-brain disease, described in a number of Finnish patients, may or may not belong in this last category. In CMD with cerebral involvement inheritance is also autosomal recessive. It is possible that single sporadic cases are phenocopies due to infectious or other exogenous causes. Reports of clinical and morphological findings from an increasing number of patients show a high degree of variability within and, on the other hand, certain similarities between the forms of CMD with cerebral involvement. In addition, neuroradiological changes are also found with increasing frequency in CMD patients without clinical neuropsychological abnormalities. It is not unreasonable to speculate that molecular genetic techniques will reveal in the near future a variable defect in one gene locus or defects in a few gene loci as the cause of the various clinical forms of CMDs.

  13. Electrical stimulation superimposed onto voluntary muscular contraction.

    Science.gov (United States)

    Paillard, Thierry; Noé, Frédéric; Passelergue, Philippe; Dupui, Philippe

    2005-01-01

    Electrical stimulation (ES) reverses the order of recruitment of motor units (MU) observed with voluntary muscular contraction (VOL) since under ES, large MU are recruited before small MU. The superimposition of ES onto VOL (superimposed technique: application of an electrical stimulus during a voluntary muscle action) can theoretically activate more motor units than VOL performed alone, which can engender an increase of the contraction force. Two superimposed techniques can be used: (i) the twitch interpolation technique (ITT), which consists of interjecting an electrical stimulus onto the muscle nerve; and (ii) the percutaneous superimposed electrical stimulation technique (PST), where the stimulation is applied to the muscle belly. These two superimposed techniques can be used to evaluate the ability to fully activate a muscle. They can thus be employed to distinguish the central or peripheral nature of fatigue after exhausting exercise. In general, whatever the technique employed, the superimposition of ES onto volitional exercise does not recruit more MU than VOL, except with eccentric actions. Nevertheless, the neuromuscular response associated with the use of the superimposed technique (ITT and PST) depends on the parameter of the superimposed current. The sex and the training level of the subjects can also modify the physiological impact of the superimposed technique. Although the motor control differs drastically between training with ES and VOL, the integration of the superimposed technique in training programmes with healthy subjects does not reveal significant benefits compared with programmes performed only with voluntary exercises. Nevertheless, in a therapeutic context, training programmes using ES superimposition compensate volume and muscle strength deficit with more efficiency than programmes using VOL or ES separately.

  14. ARDS (Acute Respiratory Distress Syndrome)

    Science.gov (United States)

    ... Also known as What Is ARDS, or acute respiratory distress syndrome, is a lung condition that leads ... treat ARDS. Other Names Acute lung injury Adult respiratory distress syndrome Increased-permeability pulmonary edema Noncardiac pulmonary ...

  15. Respiratory gating in cardiac PET

    DEFF Research Database (Denmark)

    Lassen, Martin Lyngby; Rasmussen, Thomas; Christensen, Thomas E

    2017-01-01

    BACKGROUND: Respiratory motion due to breathing during cardiac positron emission tomography (PET) results in spatial blurring and erroneous tracer quantification. Respiratory gating might represent a solution by dividing the PET coincidence dataset into smaller respiratory phase subsets. The aim...... of our study was to compare the resulting imaging quality by the use of a time-based respiratory gating system in two groups administered either adenosine or dipyridamole as the pharmacological stress agent. METHODS AND RESULTS: Forty-eight patients were randomized to adenosine or dipyridamole cardiac...... stress (82)RB-PET. Respiratory rates and depths were measured by a respiratory gating system in addition to registering actual respiratory rates. Patients undergoing adenosine stress showed a decrease in measured respiratory rate from initial to later scan phase measurements [12.4 (±5.7) vs 5.6 (±4...

  16. Middle East Respiratory Syndrome (MERS)

    Science.gov (United States)

    Middle East Respiratory Syndrome Coronavirus; MERS-CoV; Novel coronavirus; nCoV ... for Disease Control and Prevention website. Middle East Respiratory Syndrome (MERS): Frequently asked questions and answers. www. ...

  17. Acute respiratory infections at children

    OpenAIRE

    Delyagin, V.

    2009-01-01

    The common signs of virus respiratory diseases, role of pathological inclination to infections, value of immunodeficiency are presented at lecture. Features of most often meeting respiratory virus infections are given.

  18. Severe respiratory failure as a presenting feature of an interstitial lung disease associated with anti-synthetase syndrome (ASS).

    Science.gov (United States)

    Piroddi, Ines Maria Grazia; Ferraioli, Gianluca; Barlascini, Cornelius; Castagneto, Corrado; Nicolini, Antonello

    2016-07-01

    Anti-synthetase syndrome (ASS) is defined as a heterogeneous connective tissue disorder characterized by the association of an interstitial lung disease (ILD) with or without inflammatory myositis with the presence of anti-aminoacyl-tRNA-synthetase antibodies. ILD is one of the major extra-muscular manifestations of polymyositis and dermatomyositis. We report a case of a patient with dyspnea, cough, and intermittent fever as well as ILD associated ASS in the absence of muscular involvement. This patient was admitted to the emergency department with severe respiratory failure requiring non-invasive ventilation. Our patient's case demonstrates that the diagnosis of ASS may not be obvious. However, its diagnosis leads to appropriate and potentially life-saving treatment. Copyright © 2016 The Japanese Respiratory Society. Published by Elsevier B.V. All rights reserved.

  19. Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site

    Science.gov (United States)

    D’Angelo, Maria Grazia; Lorusso, Maria Luisa; Civati, Federica; Comi, Giacomo Pietro; Magri, Francesca; Del Bo, Roberto; Guglieri, Michela; Molteni, Massimo; Turconi, Anna Carla; Bresolin, Nereo

    2011-01-01

    The presence of nonprogressive cognitive impairment is recognized as a common feature in a substantial proportion of patients with Duchenne muscular dystrophy. To investigate the possible role of mutations along the dystrophin gene affecting different brain dystrophin isoforms and specific cognitive profiles, 42 school-age children affected with Duchenne muscular dystrophy, subdivided according to sites of mutations along the dystrophin gene, underwent a battery of tests tapping a wide range of intellectual, linguistic, and neuropsychologic functions. Full-scale intelligence quotient was approximately 1 S.D. below the population average in the whole group of dystrophic children. Patients with Duchenne muscular dystrophy and mutations located in the distal portion of the dystrophin gene (involving the 140-kDa brain protein isoform, called Dp140) were generally more severely affected and expressed different patterns of strengths and impairments, compared with patients with Duchenne muscular dystrophy and mutations located in the proximal portion of the dystrophin gene (not involving Dp140). Patients with Duchenne muscular dystrophy and distal mutations demonstrated specific impairments in visuospatial functions and visual memory (which seemed intact in proximally mutated patients) and greater impairment in syntactic processing. PMID:22000308

  20. Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

    Science.gov (United States)

    Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

    2017-01-01

    Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

  1. Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

    Science.gov (United States)

    Palmio, Johanna; Jonson, Per Harald; Evilä, Anni; Auranen, Mari; Straub, Volker; Bushby, Kate; Sarkozy, Anna; Kiuru-Enari, Sari; Sandell, Satu; Pihko, Helena; Hackman, Peter; Udd, Bjarne

    2015-11-01

    DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.F93I, p.F93L, and p.P96R, have been reported in families from Europe, North America and Asia. The previously known mutations cause mainly adult-onset proximal muscle weakness with moderate progression and without respiratory involvement. A Finnish family and a British patient have been studied extensively due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of ambulation in early adulthood and respiratory involvement; one patient died of respiratory failure aged 32. Two novel mutations, c.271T > A (p.F91I) and c.271T > C (p.F91L), in DNAJB6 were identified by whole exome sequencing as a cause of this severe form of LGMD1D. The results were confirmed by Sanger sequencing. The anti-aggregation effect of the mutant DNAJB6 was investigated in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein. Both novel mutant proteins show a significant loss of ability to prevent aggregation. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. Climate change and respiratory disease: European Respiratory Society position statement.

    Science.gov (United States)

    Ayres, J G; Forsberg, B; Annesi-Maesano, I; Dey, R; Ebi, K L; Helms, P J; Medina-Ramón, M; Windt, M; Forastiere, F

    2009-08-01

    Climate change will affect individuals with pre-existing respiratory disease, but the extent of the effect remains unclear. The present position statement was developed on behalf of the European Respiratory Society in order to identify areas of concern arising from climate change for individuals with respiratory disease, healthcare workers in the respiratory sector and policy makers. The statement was developed following a 2-day workshop held in Leuven (Belgium) in March 2008. Key areas of concern for the respiratory community arising from climate change are discussed and recommendations made to address gaps in knowledge. The most important recommendation was the development of more accurate predictive models for predicting the impact of climate change on respiratory health. Respiratory healthcare workers also have an advocatory role in persuading governments and the European Union to maintain awareness and appropriate actions with respect to climate change, and these areas are also discussed in the position statement.

  3. The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression.

    Science.gov (United States)

    Kinnett, Kathi; Noritz, Garey

    2017-06-27

    Duchenne muscular dystrophy (DMD or Duchenne) is a progressive, life-limiting muscle-wasting disease that requires comprehensive, multidisciplinary care. This care, at minimum, should include neuromuscular, respiratory, cardiac, orthopedic, endocrine and rehabilitative interventions that address both the primary and secondary manifestations of the disease. The care needs of patients evolve over the cdourse of the disease and as they transition from childhood into young adulthood. In the past two decades, life expectancy has increased significantly by the use of corticosteroids and enhanced clinical management. Nevertheless, each year, patients with Duchenne muscular dystrophy are admitted to emergency departments and intensive care units where medical expertise thrives, but where expertise in rare diseases, such as Duchenne, may not. Emergency care for patients with Duchenne can be as complex as the disease process itself. While any illness or injury may occur in a person with Duchenne, some acute scenarios are much more common in the context of the disease. Making decisions about the clinical care of a person with Duchenne who presents with an acute illness can be quite difficult - in part, because of the extensive use of corticosteroids, which can lead to adrenal suppression. The life of a person with Duchenne needing emergency care may therefore depend upon the ability of the clinician on duty in the emergency department to recognize and mitigate adrenal suppression resulting from corticosteroid dependence. With this in mind, and drawing from expertise and experience with other steroid-dependent diseases, the 'PJ Nicholoff Steroid Protocol' was developed. The purpose of this protocol is to provide clinicians information regarding the safe management of corticosteroid during emergency situations in patients who may have accompanying adrenal suppression. The protocol explains how to recognize the signs and symptoms of acute adrenal crisis, how to prevent it with

  4. Similar efficacy from specific and non-specific mineralocorticoid receptor antagonist treatment of muscular dystrophy mice.

    Science.gov (United States)

    Lowe, Jeovanna; Floyd, Kyle T; Rastogi, Neha; Schultz, Eric J; Chadwick, Jessica A; Swager, Sarah A; Zins, Jonathan G; Kadakia, Feni K; Smart, Suzanne; Gomez-Sanchez, Elise P; Gomez-Sanchez, Celso E; Raman, Subha V; Janssen, Paul M L; Rafael-Fortney, Jill A

    2016-01-01

    Combined treatment with an angiotensin-converting enzyme inhibitor and a mineralocorticoid receptor (MR) antagonist improved cardiac and skeletal muscle function and pathology in a mouse model of Duchenne muscular dystrophy. MR is present in limb and respiratory skeletal muscles and functions as a steroid hormone receptor. The goals of the current study were to compare the efficacy of the specific MR antagonist eplerenone with the non-specific MR antagonist spironolactone, both in combination with the angiotensin-converting enzyme inhibitor lisinopril. Three groups of n=18 dystrophin-deficient, utrophin-haploinsufficient male mice were given chow containing: lisinopril plus spironolactone, lisinopril plus eplerenone, or no drug, from four to 20 weeks-of-age. Eighteen C57BL/10 male mice were used as wild-type controls. In vivo measurements included cardiac magnetic resonance imaging, conscious electrocardiography, and grip strength. From each mouse in the study, diaphragm, extensor digitorum longus , and cardiac papillary muscle force was measured ex vivo , followed by histological quantification of muscle damage in heart, diaphragm, quadriceps, and abdominal muscles. MR protein levels were also verified in treated muscles. Treatment with specific and non-specific MR antagonists did not result in any adverse effects to dystrophic skeletal muscles or heart. Both treatments resulted in similar functional and pathological improvements across a wide array of parameters. MR protein levels were not reduced by treatment. These data suggest that spironolactone and eplerenone show similar effects in dystrophic mice and support the clinical development of MR antagonists for treating skeletal muscles in Duchenne muscular dystrophy.

  5. Evaluation of respiratory pattern during respiratory-gated radiotherapy

    International Nuclear Information System (INIS)

    Dobashi, Suguru; Mori, Shinichiro

    2014-01-01

    The respiratory cycle is not strictly regular, and generally varies in amplitude and period from one cycle to the next. We evaluated the characteristics of respiratory patterns acquired during respiratory gating treatment in more than 300 patients. A total 331 patients treated with respiratory-gated carbon-ion beam therapy were selected from a group of patients with thoracic and abdominal conditions. Respiratory data were acquired for a total of 3,171 fractions using an external respiratory sensing monitor and evaluated for respiratory cycle, duty cycle, magnitude of baseline drift, and intrafractional/interfractional peak inhalation/exhalation positional variation. Results for the treated anatomical sites and patient positioning were compared. Mean ± SD respiratory cycle averaged over all patients was 4.1 ± 1.3 s. Mean ± SD duty cycle averaged over all patients was 36.5 ± 7.3 %. Two types of baseline drift were seen, the first decremental and the second incremental. For respiratory peak variation, the mean intrafractional variation in peak-inhalation position relative to the amplitude in the first respiratory cycle (15.5 ± 9.3 %) was significantly larger than that in exhalation (7.5 ± 4.6 %). Interfractional variations in inhalation (17.2 ± 18.5 %) were also significantly greater than those in exhalation (9.4 ± 10.0 %). Statistically significant differences were observed between patients in the supine position and those in the prone position in mean respiratory cycle, duty cycle, and intra-/interfractional variations. We quantified the characteristics of the respiratory curve based on a large number of respiratory data obtained during treatment. These results might be useful in improving the accuracy of respiratory-gated treatment.

  6. Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy

    DEFF Research Database (Denmark)

    Jensen, L; Petersson, S J; Illum, N O

    2017-01-01

    OBJECTIVE: Duchenne muscular dystrophy (DMD) patients are often treated with glucocorticoids; yet their precise molecular action remains unknown. METHODS: We investigated muscle biopsies from nine boys with DMD (aged: 7,6±2,8 yrs.) collected before and after three months of deflazacort treatment...... approaching normal values (p⟨0.05) following treatment (towards an increase; CDH15, C-MET, DLK1, FGF2, IGF1R, MYF5, MYF6, MYOD, PAX7; towards a decrease: CD68, MYH8, TNFα). Treatment reduced CK levels (p⟨0.05), but we observed no effect on muscle protein expression. CONCLUSIONS: This study provides insight...... and compared them to eight healthy boys (aged: 5,3±2,4 yrs.). mRNA transcripts involved in activation of satellite cells, myogenesis, regeneration, adipogenesis, muscle growth and tissue inflammation were assessed. Serum creatine kinase (CK) levels and muscle protein expression by immunohistochemistry...

  7. Analysis of respiratory and muscle activity by means of cross information function between ventilatory and myographic signals.

    Science.gov (United States)

    Alonso, J F; Mañanas, M A; Hoyer, D; Topor, Z L; Bruce, E N

    2004-01-01

    Analysis of respiratory muscle activity is a promising technique for the study of pulmonary diseases such as obstructive sleep apnea syndrome (OSAS). Evaluation of interactions between muscles is very useful in order to determine the muscular pattern during an exercise. These interactions have already been assessed by means of different linear techniques like cross-spectrum, magnitude squared coherence or cross-correlation. The aim of this work is to evaluate interactions between respiratory and myographic signals through nonlinear analysis by means of cross mutual information function (CMIF), and finding out what information can be extracted from it. Some parameters are defined and calculated from CMIF between ventilatory and myographic signals of three respiratory muscles. Finally, differences in certain parameters were obtained between OSAS patients and healthy subjects indicating different respiratory muscle couplings.

  8. [Upper limb functional assessment scale for children with Duchenne muscular dystrophy and Spinal muscular atrophy].

    Science.gov (United States)

    Escobar, Raúl G; Lucero, Nayadet; Solares, Carmen; Espinoza, Victoria; Moscoso, Odalie; Olguín, Polín; Muñoz, Karin T; Rosas, Ricardo

    2016-08-16

    Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) causes significant disability and progressive functional impairment. Readily available instruments that assess functionality, especially in advanced stages of the disease, are required to monitor the progress of the disease and the impact of therapeutic interventions. To describe the development of a scale to evaluate upper limb function (UL) in patients with DMD and SMA, and describe its validation process, which includes self-training for evaluators. The development of the scale included a review of published scales, an exploratory application of a pilot scale in healthy children and those with DMD, self-training of evaluators in applying the scale using a handbook and video tutorial, and assessment of a group of children with DMD and SMA using the final scale. Reliability was assessed using Cronbach and Kendall concordance and with intra and inter-rater test-retest, and validity with concordance and factorial analysis. A high level of reliability was observed, with high internal consistency (Cronbach α=0.97), and inter-rater (Kendall W=0.96) and intra-rater concordance (r=0.97 to 0.99). The validity was demonstrated by the absence of significant differences between results by different evaluators with an expert evaluator (F=0.023, P>.5), and by the factor analysis that showed that four factors account for 85.44% of total variance. This scale is a reliable and valid tool for assessing UL functionality in children with DMD and SMA. It is also easily implementable due to the possibility of self-training and the use of simple and inexpensive materials. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Estruturas elásticas e fadiga muscular

    OpenAIRE

    Kronbauer, Gláucia Andreza; Castro, Flávio Antônio de Souza

    2013-01-01

    A fadiga muscular pode ser definida pela incapacidade de manter certa tarefa ao longo do tempo; os mecanismos neuromusculares e metabólicos envolvidos na contração muscular estão diretamente associados a esse fenômeno. Este estudo bibliográfico busca descrever as alterações nos elementos contráteis e elásticos envolvidos na contração muscular e sua relação com o desempenho na locomoção. As estruturas contráteis são aquelas que desenvolvem força ativa com gasto de energia metabólica - mecanism...

  10. Fuchs' dystrophy associated with radial keratotomy: Lamellar or perforating keratoplasty?

    Science.gov (United States)

    Rodriguez-Ausin, P; Antolin-Garcia, D; Santamaria Garcia, L; Blazquez-Fernandez, A-B

    2017-05-01

    A 70 year-old male patient with a history of radial keratotomy suffering from Fuchs' dystrophy and a cataract. The patient received a two-step surgery: lens phacoemulsification and intraocular lens implant, followed by descemet stripping automated endothelial keratoplasty in both eyes, four months later. There were no complications apart from a recurrent cystoid macular oedema in both eyes. The best corrected visual acuity was 20/40 both eyes, and the patient was satisfied. Descemet stripping automated endothelial keratoplasty may be considered as an alternative to penetrating keratoplasty in the case of endothelial dysfunction and radial keratotomy in patients with no corneal ectasia or significant stromal opacity. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Respiratory guiding system for respiratory motion management in respiratory gated radiotherapy

    International Nuclear Information System (INIS)

    Kang, Seong Hee; Kim, Dong Su; Kim, Tae Ho; Suh, Tae Suk

    2013-01-01

    Respiratory guiding systems have been shown to improve the respiratory regularity. This, in turn, improves the efficiency of synchronized moving aperture radiation therapy, and it reduces the artifacts caused by irregular breathing in imaging techniques such as four-dimensional computed tomography (4D CT), which is used for treatment planning in RGRT. We have previously developed a respiratory guiding system that incorporates an individual-specific guiding waveform, which is easy to follow for each volunteer, to improve the respiratory regularity. The present study evaluates the application of this system to improve the respiratory regularity for respiratory-gated radiation therapy (RGRT). In this study, we evaluated the effectiveness of an in-house-developed respiratory guiding system incorporating an individual specific guiding waveform to improve the respiratory regularity for RGRT. Most volunteers showed significantly less residual motion at each phase during guided breathing owing to the improvement in respiratory regularity. Therefore, the respiratory guiding system can clearly reduce the residual, or respiratory, motion in each phase. From the result, the CTV and the PTV margins during RGRT can be reduced by using the respiratory guiding system, which reduces the residual motions, thus improving the accuracy of RGRT

  12. Heliox reduces respiratory system resistance in respiratory syncytial virus induced respiratory failure

    NARCIS (Netherlands)

    Kneyber, Martin C. J.; van Heerde, Marc; Twisk, Jos W. R.; Plotz, Frans B.; Markhors, Dick G.

    2009-01-01

    Introduction Respiratory syncytial virus (RSV) lower respiratory tract disease is characterised by narrowing of the airways resulting in increased airway resistance, air-trapping and respiratory acidosis. These problems might be overcome using helium-oxygen gas mixture. However, the effect of

  13. Heliox reduces respiratory system resistance in respiratory syncytial virus induced respiratory failure

    NARCIS (Netherlands)

    Kneijber, M.C.J.; van Heerde, M.; Twisk, J.W.R.; Plotz, F.; Markhorst, D.G.

    2009-01-01

    Introduction: Respiratory syncytial virus (RSV) lower respiratory tract disease is characterised by narrowing of the airways resulting in increased airway resistance, air-trapping and respiratory acidosis. These problems might be overcome using helium-oxygen gas mixture. However, the effect of

  14. Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.

    Directory of Open Access Journals (Sweden)

    Irina T Zaharieva

    Full Text Available Duchenne muscular Dystrophy (DMD is an inherited disease caused by mutations in the dystrophin gene that disrupt the open reading frame, while in frame mutations result in Becker muscular dystrophy (BMD. Ullrich congenital muscular dystrophy (UCMD is due to mutations affecting collagen VI genes. Specific muscle miRNAs (dystromirs are potential non-invasive biomarkers for monitoring the outcome of therapeutic interventions and disease progression. We quantified miR-1, miR-133a,b, miR-206 and miR-31 in serum from patients with DMD, BMD, UCMD and healthy controls. MiR-1, miR-133a,b and miR-206 were upregulated in DMD, but unchanged in UCMD compared to controls. Milder DMD patients had higher levels of dystromirs than more severely affected patients. Patients with low forced vital capacity (FVC values, indicating respiratory muscle weakness, had low levels of serum miR-1 and miR-133b. There was no significant difference in the level of the dystromirs in BMD compared to controls. We also assessed the effect of dystrophin restoration on the expression of the five dystromirs in serum of DMD patients treated systemically for 12 weeks with antisense oligomer eteplirsen that induces skipping of exon 51 in the dystrophin gene. The dystromirs were also analysed in muscle biopsies of DMD patients included in a single dose intramuscular eteplirsen clinical trial. Our analysis detected a trend towards normalization of these miRNA between the pre- and post-treatment samples of the systemic trial, which however failed to reach statistical significance. This could possibly be due to the small number of patients and the short duration of these clinical trials. Although longer term studies are needed to clarify the relationship between dystrophin restoration following therapeutic intervention and the level of circulating miRNAs, our results indicate that miR-1 and miR-133 can be considered as exploratory biomarkers for monitoring the progression of muscle weakness

  15. Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England.

    Science.gov (United States)

    Van Ruiten, H J A; Marini Bettolo, C; Cheetham, T; Eagle, M; Lochmuller, H; Straub, V; Bushby, K; Guglieri, M

    2016-11-01

    Duchenne muscular dystrophy (DMD) is the most common inherited muscle disease in children. Recent years have seen an increase in age of survival into adulthood following the introduction of proactive standards of care. We reviewed mortality in DMD in our population in order to identify potential underlying risk factors for premature death and improve clinical care. A retrospective case note review of all deaths in the DMD population over the last 10 years in North East England. We identified 2 groups of patients: patients who died from underlying cardiac and/or respiratory failure (group 1) and patients who died unexpectedly in the absence of underlying cardio-respiratory failure (group 2). Detailed information was available on 21 patients. Mean age of death in group 1 (17 patients) was 23.9 (14.4-39.5) years, in group 2 (4 patients) 14 (12.7-14.9) years. Causes of death in group 2 were acute pneumonia, cardiac arrest, acute respiratory distress and multi-organ failure. Across both groups we identified concerns regarding respiratory failure, inadequate nutrition, non-attendance at appointments, suboptimal coordination of care and decreased psychological wellbeing. In group 2, fat embolism, cardiac arrhythmia and adrenal insufficiency were also potential contributing factors. The main cause of death in DMD in our population remains cardio-respiratory failure. Four patients (19%) died in their teenage years in the absence of severe cardiorespiratory failure. A more thorough understanding of the impact of DMD and its treatment on all organs systems is required to minimise the risk of an untimely death. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  16. Ocular Tropism of Respiratory Viruses

    Science.gov (United States)

    Rota, Paul A.; Tumpey, Terrence M.

    2013-01-01

    SUMMARY Respiratory viruses (including adenovirus, influenza virus, respiratory syncytial virus, coronavirus, and rhinovirus) cause a broad spectrum of disease in humans, ranging from mild influenza-like symptoms to acute respiratory failure. While species D adenoviruses and subtype H7 influenza viruses are known to possess an ocular tropism, documented human ocular disease has been reported following infection with all principal respiratory viruses. In this review, we describe the anatomical proximity and cellular receptor distribution between ocular and respiratory tissues. All major respiratory viruses and their association with human ocular disease are discussed. Research utilizing in vitro and in vivo models to study the ability of respiratory viruses to use the eye as a portal of entry as well as a primary site of virus replication is highlighted. Identification of shared receptor-binding preferences, host responses, and laboratory modeling protocols among these viruses provides a needed bridge between clinical and laboratory studies of virus tropism. PMID:23471620

  17. Nanotechnology in respiratory medicine.

    Science.gov (United States)

    Omlor, Albert Joachim; Nguyen, Juliane; Bals, Robert; Dinh, Quoc Thai

    2015-05-29

    Like two sides of the same coin, nanotechnology can be both boon and bane for respiratory medicine. Nanomaterials open new ways in diagnostics and treatment of lung diseases. Nanoparticle based drug delivery systems can help against diseases such as lung cancer, tuberculosis, and pulmonary fibrosis. Moreover, nanoparticles can be loaded with DNA and act as vectors for gene therapy in diseases like cystic fibrosis. Even lung diagnostics with computer tomography (CT) or magnetic resonance imaging (MRI) profits from new nanoparticle based contrast agents. However, the risks of nanotechnology also have to be taken into consideration as engineered nanomaterials resemble natural fine dusts and fibers, which are known to be harmful for the respiratory system in many cases. Recent studies have shown that nanoparticles in the respiratory tract can influence the immune system, can create oxidative stress and even cause genotoxicity. Another important aspect to assess the safety of nanotechnology based products is the absorption of nanoparticles. It was demonstrated that the amount of pulmonary nanoparticle uptake not only depends on physical and chemical nanoparticle characteristics but also on the health status of the organism. The huge diversity in nanotechnology could revolutionize medicine but makes safety assessment a challenging task.

  18. Adult respiratory distress syndrome

    International Nuclear Information System (INIS)

    Murphy, C.H.; Colvin, R.S.

    1987-01-01

    Due to improved emergency resuscitation procedures, and with advancing medical technology in the field of critical care, an increasing number of patients survive the acute phase of shock and catastrophic trauma. Patients who previously died of massive sepsis, hypovolemic or hypotensive shock, multiple fractures, aspiration, toxic inhalation, and massive embolism are now surviving long enough to develop previously unsuspected and unrecognized secondary effects. With increasing frequency, clinicians are recognizing the clinical and radiographic manifestations of pathologic changes in the lungs occurring secondary to various types of massive insult. This paper gives a list of diseases that have been shown to precipitate or predispose to diffuse lung damage. Various terms have been used to describe the lung damage and respiratory failure secondary to these conditions. The term adult respiratory distress syndrome (ARDS) is applied to several cases of sudden respiratory failure in patients with previously healthy lungs following various types of trauma or shock. Numerous investigations and experiments have studied the pathologic changes in ARDS, and, while there is still no clear indication of why it develops, there is now some correlation of the sequential pathologic developments with the clinical and radiographic changes

  19. Magnetic resonance imaging of children with Duchenne muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Schreiber, A.; Smith, W.L.; Franken, E.A.; Dunn, V.; Ehrhardt, J.; Ionasescu, V.; Zellweger, H.

    1987-10-01

    Eight children representing a spectrum of clinical states of biopsy-proven Duchenne muscular dystrophy (DMD) underwent magnetic resonance (MR) scans to assess the degree of muscular involvement and disease progression. Five muscle groups (neck, shoulder girdle, pelvic girdle, thigh and calf) were evaluated. In each case, involved muscles were clearly demarcated. Image estimates of disease severity by degree of muscle involvement correlated well with clinical staging. In our experience MR is useful for assessment of disease stage, selection of appropriate muscles for biopsy and planning for courses of physical and rehabilitation therapy.

  20. Atrofia muscular espinal tipo 1: enfermedad de Werdnig-Hoffmann

    OpenAIRE

    Zárate-Aspiros, Romeo; Rosas-Sumano, Ana Beatriz; Paz-Pacheco, Alberto; Fenton-Navarro, Patricia; Chinas-López, Silvet; López-Ríos, José Antonio

    2013-01-01

    Introducción. Las atrofias musculares espinales de la infancia son enfermedades neuromusculares hereditarias, autosómicas, recesivas, caracterizadas por la degeneración de las neuronas motoras del asta anterior de la médula espinal. La atrofia muscular espinal tipo I (enfermedad de Werdnig-Hoffmann) es la forma más severa. Se inicia in útero o durante los primeros meses de vida. La muerte suele ocurrir antes de los dos años de edad. Caso clínico. Lactante de 6 meses de edad que ingresa al Ser...

  1. [DIAGNOSTIC VARIATIONS OF X-LINKED MUSCULAR DYSTROPHY WITH CONTRACTURES].

    Science.gov (United States)

    Kvirkvelia, N; Shakarishvili, R; Gugutsidze, D; Khizanishvili, N

    2015-01-01

    Case report with review describes X-linked muscular dystrophy with contractures in 28 years old man and his cousin. The disease revealed itself in an early stage (age 5-10), the process was progressing with apparent tendons retraction and contraction, limited movement in the areas of the neck and back of spine, atrophy of shoulder and pelvic yard and back muscles. Intellect was intact. Cardyomyopathy was exhibited. CK was normal. EMG showed classic myopathic features. Muscle biopsy showed different caliber groups of muscle fibers, growth of endo-perimesial connective tissue. Clinical manifestations together with electrophysiological and histological data suggest consistency with Rotthauwe-Mortier-Bayer X-linked muscular dystrophy.

  2. Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

    Directory of Open Access Journals (Sweden)

    Scola Rosana Herminia

    2001-01-01

    Full Text Available We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA. The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

  3. Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

    DEFF Research Database (Denmark)

    Hauerslev, S; Ørngreen, M C; Hertz, J M

    2013-01-01

    The aim of this study was to investigate whether inflammation and regeneration are prominent in mildly affected muscles of patients with facioscapulohumeral muscular dystrophy type 1A (FSHD1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A.......The aim of this study was to investigate whether inflammation and regeneration are prominent in mildly affected muscles of patients with facioscapulohumeral muscular dystrophy type 1A (FSHD1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A....

  4. Imaging of muscular denervation secondary to motor cranial nerve dysfunction

    International Nuclear Information System (INIS)

    Connor, S.E.J.; Chaudhary, N.; Fareedi, S.; Woo, E.K.

    2006-01-01

    The effects of motor cranial nerve dysfunction on the computed tomography (CT) and magnetic resonance imaging (MRI) appearances of head and neck muscles are reviewed. Patterns of denervation changes are described and illustrated for V, VII, X, XI and XII cranial nerves. Recognition of the range of imaging manifestations, including the temporal changes in muscular appearances and associated muscular grafting or compensatory hypertrophy, will avoid misinterpretation as local disease. It will also prompt the radiologist to search for underlying cranial nerve pathology, which may be clinically occult. The relevant cranial nerve motor division anatomy will be described to enable a focussed search for such a structural abnormality

  5. Imaging of muscular denervation secondary to motor cranial nerve dysfunction

    Energy Technology Data Exchange (ETDEWEB)

    Connor, S.E.J. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom)]. E-mail: sejconnor@tiscali.co.uk; Chaudhary, N. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom); Fareedi, S. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom); Woo, E.K. [Neuroradiology Department, Kings College Hospital, Denmark Hill, London SE5 9RS (United Kingdom)

    2006-08-15

    The effects of motor cranial nerve dysfunction on the computed tomography (CT) and magnetic resonance imaging (MRI) appearances of head and neck muscles are reviewed. Patterns of denervation changes are described and illustrated for V, VII, X, XI and XII cranial nerves. Recognition of the range of imaging manifestations, including the temporal changes in muscular appearances and associated muscular grafting or compensatory hypertrophy, will avoid misinterpretation as local disease. It will also prompt the radiologist to search for underlying cranial nerve pathology, which may be clinically occult. The relevant cranial nerve motor division anatomy will be described to enable a focussed search for such a structural abnormality.

  6. Magnetic resonance imaging of children with Duchenne muscular dystrophy

    International Nuclear Information System (INIS)

    Schreiber, A.; Smith, W.L.; Franken, E.A.; Dunn, V.; Ehrhardt, J.; Ionasescu, V.; Zellweger, H.

    1987-01-01

    Eight children representing a spectrum of clinical states of biopsy-proven Duchenne muscular dystrophy (DMD) underwent magnetic resonance (MR) scans to assess the degree of muscular involvement and disease progression. Five muscle groups (neck, shoulder girdle, pelvic girdle, thigh and calf) were evaluated. In each case, involved muscles were clearly demarcated. Image estimates of disease severity by degree of muscle involvement correlated well with clinical staging. In our experience MR is useful for assessment of disease stage, selection of appropriate muscles for biopsy and planning for courses of physical and rehabilitation therapy. (orig.)

  7. Nodular type of muscular sarcoidosis : a case report

    International Nuclear Information System (INIS)

    Chae, Soo Hyun; Kim, Hong Soo; Park, Sook Hee; Kim, Sung Me

    1999-01-01

    Muscular involvement of sarcoidosis is rare and occurs in two forms:nodular and myopathic. In the nodular variety, lesions are long and extend along muscle fibers. Axial MR imaging reveals a star-shaped central structure of decreased signal intensity. Sagittal and coronal MR images show three stripes:an inner stripe of decreased signal intensity and outer stripes of increased signal intensity. Longitudinal sonography shows an echogenic inner stripe and hypoechoic outer stripes. We report a case of nodular- type muscular sarcoidosis in a 53-year-old man, describing the findings of MRI and ultrasonography

  8. Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

    DEFF Research Database (Denmark)

    Andersen, Søren P; Sveen, Marie-Louise; Hansen, Regitze S

    2013-01-01

    We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies.......We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies....

  9. MR and ultrasound findings in a case of cerebro-oculo-muscular-syndrome

    International Nuclear Information System (INIS)

    Simma, B.; Maurer, H.; Gassner, I.; Krassnitzer, S.; Felber, S.

    1990-01-01

    We report on a boy with type II lissencephaly and congenital muscular dystrophy. The patient presented with the features of a cerebro-oculo-muscular-syndrome (COMS). We describe the clinical presentations and the characteristic sonographic and MR findings. (orig.)

  10. Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease.

    Science.gov (United States)

    Jevnikar, Mitja; Kodric, Metka; Cantarutti, Fabiana; Cifaldi, Rossella; Longo, Cinzia; Della Porta, Rossana; Bembi, Bruno; Confalonieri, Marco

    2015-12-01

    Pompe disease is an autosomal recessive metabolic disorder caused by the deficiency of the lysosomal enzyme acid α-glucosidase. This deficiency leads to glycogen accumulation in the lysosomes of muscle tissue causing progressive muscular weakness particularly of the respiratory system. Enzyme replacement therapy (ERT) has demonstrated efficacy in slowing down disease progression in infants. Despite the large number of studies describing the effects of physical training in juvenile and adult late onset Pompe disease (LOPD). There are very few reports that analyze the benefits of respiratory muscle rehabilitation or training. The effectiveness of respiratory muscle training was investigated using a specific appliance with adjustable resistance (Threshold). The primary endpoint was effect on respiratory muscular strength by measurements of MIP and MEP. Eight late-onset Pompe patients (aged 13 to 58 years; 4 female, 4 male) with respiratory muscle deficiency on functional respiratory tests were studied. All patients received ERT at the dosage of 20 mg/kg/every 2 weeks and underwent training with Threshold at specified pressures for 24 months. A significant increase in MIP was observed during the follow-up of 24 month: 39.6 cm H 2 O (+ 25.0%) at month 3; 39.5 cm H 2 O (+ 24.9%) at month 6; 39.1 cm H 2 O (+ 23.7%) at month 9; 37.3 cm H 2 O (+ 18.2%) at month 12; and 37.3 cm H 2 O (+ 17.8%) at month 24. Median MEP values also showed a significant increase during the first 9 months: 29.8 cm H 2 O, (+ 14.3%) at month 3; 31.0 cm H 2 O (+ 18.6) at month 6; and 29.5 cm H 2 O (+ 12.9) at month 9. MEP was then shown to be decreased at months 12 and 24; median MEP was 27.2 cm H 2 O (+ 4.3%) at 12 months and 26.6 cm H 2 O (+ 1.9%) at 24 months. The FVC remain stable throughout the study. An increase in respiratory muscular strength was demonstrated with Threshold training when used in combination with ERT.

  11. [Specific features of the functional state of the cardiorespiratory system in athletes differing in the types of muscular activity during the preparatory period of the training cycle].

    Science.gov (United States)

    Ivanova, N B

    2011-01-01

    The present study of the functional state of the cadiorespiratory system included athletes engaged in cyclic team sports. The state of the cardiorespiratory system was estimated from the measurement of central hemodynamics and cardiac rhythm variability, results of electrocardiography, spirography, and pneumotachography performed during the preparatory period for the training cycle. It was shown that the cardiovascular and respiratory systems as well as vegetative regulation of the cardiac rhythm of the athletes under examination underwent differently directed structural modification depending on the specific patterns of muscular activity.

  12. Generation of GZKHQi001-A and GZWWTi001-A, two induced pluripotent stem cell lines derived from peripheral blood mononuclear cells of Duchenne muscular dystrophy patients

    Directory of Open Access Journals (Sweden)

    Xie Yuhuan

    2018-04-01

    Full Text Available Duchenne muscular dystrophy (DMD is an X-linked disease caused by mutations in the DMD gene, which spans ~2.4 Mb of genomic sequence at locus Xp21. This mutation results in the loss of the protein dystrophin. DMD patients die in their second or third decade due to either respiratory failure or cardiomyopathy, as the absence of dystrophin leads to myofiber membrane fragility and necrosis, eventually resulting in muscle atrophy and contractures. Currently, there is no effective treatment for DMD, therefore induced pluripotent stem cells from DMD patients would be a powerful tool for studying disease mechanisms.

  13. The Effect of mechanical resistive loading on optimal respiratory signals and breathing patterns under added dead space and CO2 breathing

    Directory of Open Access Journals (Sweden)

    Lin Shyan-Lung

    2016-01-01

    Full Text Available Current study aims to investigate how the respiratory resistive loading affects the behaviour of the optimal chemical-mechanical respiratory control model, the respiratory signals and breathing pattern are optimized under external dead space loading and CO2 breathing. The respiratory control was modelled to include a neuro-muscular drive as the control output to derive the waveshapes of instantaneous airflow, lung volume profiles, and breathing pattern, including total/alveolar ventilation, breathing frequency, tidal volume, inspiratory/expiratory duration, duty cycle, and arterial CO2 pressure. The simulations were performed under various respiratory resistive loads, including no load, inspiratory resistive load, expiratory resistive load, and continuous resistive load. The dead space measurement was described with Gray’s derivation, and simulation results were studied and compared with experimental findings.

  14. Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

    International Nuclear Information System (INIS)

    Loefberg, M.; Liewendahl, K.; Savolainen, S.; Nikkinen, P.; Lamminen, A.; Tiula, E.; Somer, H.

    1994-01-01

    Scintigraphy with indium-111 labelled antimyosin has an established role in the evaluation of cardiac muscle damage. This antibody has been shown to cross-react with myosin in skeletal muscle. We therefore studied the usefulness of this method for the detection of skeletal muscle lesions in rhabdomyolysis, myositis and hereditary muscular dystrophies. All nine patients with rhabdomyolysis had focal uptake of antimyosin antibody which correlated with the clinical findings of soft tissue damage. However, a number of symptomless lesions were also detected by immunoscintigraphy. In rhabdomyolysis the target to non-target uptake ratios varied from 1.3 to 7.6. Diffuse uptake of antibody in skeletal muscle was observed in all three patients with polymyositis-dermatomyositis and in 12 out of 13 patients with muscular dystrophies. In myositis the intensity of antibody accumulation correlated reasonably well with the magnitude of oedema detected by magnetic resonance imaging (MRI). Most patients with Becker type or non-X-chromosomal muscular dystrophies showed slight or moderate uptake of antibody, mainly in the lower extremities. In these patients more antibody accumulated in the calves than in the thighs, whereas the findings on MRI were more prominent in the thighs than in the calves, presumably because of the better preserved muscle bulk in the calves. We conclude that antimyosin scintigraphy can be used for the detection of muscle lesions not only in acquired muscle diseases but also in hereditary muscular disorders, and that immunoscintigraphy provides information on muscle disease activity not obtainable with MRI. (orig.)

  15. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, EM; van der Wouw, PA; Wilde, AAM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; van Essen, AJ; Leschot, NJ; de Visser, Marianne

    A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives: (1) to estimate the frequency of electrocardiographic (ECG) and echocardiographic abnormalities; (2) to establish the proportion of carriers

  16. Histopathological findings in Becker-type muscular dystrophy

    NARCIS (Netherlands)

    ten Houten, R.; de Visser, M.

    1984-01-01

    Muscle biopsy specimens from 14 patients with Becker-type muscular dystrophy were analyzed to investigate possible neurogenic factors underlying the histopathological changes. Group atrophy, pyknotic nuclear clumps, and angular small fibers were seen respectively in 71%, 85%, and 100% of the cases.

  17. Becker′s Muscular Dystrophy-A Case Report

    Directory of Open Access Journals (Sweden)

    Rajendran P

    1998-01-01

    Full Text Available A case of Becker′s Muscular dystrophy (BMD in a 26-year-old male is reported. Muscle biopsy immunohistochemical staining showed absence of labelling for dystrophin along the sacrolemmal membrane in majority of the fibres. Antibodies to adhalin and merosin showed normal localisation along the sacrolemma.

  18. Carrier screening for spinal muscular atrophy in Italian population

    Indian Academy of Sciences (India)

    SMA is necessary for effective clinical/prenatal diagnosis ... of SMA critical region in the group of 450 normal controls. ... izing and quality test are as described in Calì et al. .... nosis for spinal muscular atrophy: clinical laboratory analysis of.

  19. Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

    Directory of Open Access Journals (Sweden)

    Oriana del Rocío Cruz Guzmán

    2012-01-01

    Full Text Available Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. However, only insulin resistance has been demonstrated in myotonic dystrophy. In addition, endocrine disturbances such as hypogonadism, low levels of testosterone, and growth hormone have been reported. This eventually will result in consequences such as growth failure and delayed puberty in the case of childhood dystrophies. Other consequences may be reduced male fertility, reduced spermatogenesis, and oligospermia, both in childhood as well as in adult muscular dystrophies. These facts all suggest that there is a need for better comprehension of metabolic and endocrine implications for muscular dystrophies with the purpose of developing improved clinical treatments and/or improvements in the quality of life of patients with dystrophy. Therefore, the aim of this paper is to describe the current knowledge about of metabolic and endocrine alterations in diverse types of dystrophinopathies, which will be divided into two groups: childhood and adult dystrophies which have different age of onset.

  20. Primary muscular hydatidosis. US, CT and MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Alexiadis, G.; Deftereos, S.; Manavis, J. [Democritus Univ. of Thrace, Alexandroupolis (Greece). Dept. of Radiology; Lambropoulou, M.; Papadopoulos, N. [Democritus Univ. of Thrace, Alexandroupolis (Greece). Dept. of Pathology

    2002-07-01

    We present a rare case of primary muscular hydatidosis in the left thigh of a 40-year-old female patient. US, CT and MR imaging showed a typical multilocular hydatid cyst deep in the vastus intermedius and vastus medialis muscles. Histopathological examination, which followed surgical excision, established the diagnosis of echinococcus cyst.

  1. Primary muscular hydatidosis. US, CT and MR findings

    International Nuclear Information System (INIS)

    Alexiadis, G.; Deftereos, S.; Manavis, J.; Lambropoulou, M.; Papadopoulos, N.

    2002-01-01

    We present a rare case of primary muscular hydatidosis in the left thigh of a 40-year-old female patient. US, CT and MR imaging showed a typical multilocular hydatid cyst deep in the vastus intermedius and vastus medialis muscles. Histopathological examination, which followed surgical excision, established the diagnosis of echinococcus cyst

  2. Duchenne muscular dystrophy: High-resolution melting curve ...

    African Journals Online (AJOL)

    Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort. ... Genetic screening for D/BMD in South Africa currently includes multiple ligase-dependent probe amplification (MLPA) for exonic deletions and duplications and linkage ...

  3. Quantitative assessment of calf circumference in Duchenne muscular dystrophy patients

    NARCIS (Netherlands)

    Beenakker, EAC; de Vries, Joeke; Fock, JM; van Tol, M; Brouwer, OF; Maurits, NM; van der Hoeven, JH

    2002-01-01

    Duchenne muscular dystrophy is clinically characterised by progressive muscle weakness and a gradual increase in the size of some affected muscles, especially calf muscles. The extent of calf enlargement is usually determined by subjective visual assessment. The purpose of this study was to

  4. Skeletal muscle training for spinal muscular atrophy type 3 (Protocol).

    NARCIS (Netherlands)

    Bartels, B.; Montes, J.; Pol, W.L. van der; Groot, J.F. de

    2016-01-01

    Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease caused by a genetic mutation in the survival motor neuron 1 (SMN1) gene (5q11.2-q13.3) (Lefebvre 1995). With an incidence of one in 10,000 live births, it is the leading genetic cause of infant death (Lunn 2008;

  5. Dismorfia muscular: A busca pelo corpo hiper musculoso

    Directory of Open Access Journals (Sweden)

    Andréa Pires Azevedo

    2012-03-01

    Full Text Available A dismorfia muscular tem sido identificada tanto em homens quanto em mulheres, provocando alterações da perceção da autoimagem e prejuízos socioculturais, e na saúde e bem-estar dos indivíduos. Nesse sentido, o objetivo deste estudo é analisar os aspetos socioculturais, psicológicos e o uso de recursos ergogênicos relacionados à dismorfia muscular, bem como, identificar os riscos promovidos pelo transtorno. Participaram 20 indivíduos, inscritos na rede mundial de computadores. Utilizou-se um questionário para coleta de dados e a análise documental para interpretação das respostas. Os resultados demonstram que as preocupações com a imagem corporal geram insegurança social, baixa autoestima e sentimentos de inferioridade, que seriam resolvidos se a pessoa tivesse corpos belos e fortes. A dismorfia muscular pode aumentar o risco de uso dos esteroides anabolizantes e o uso indiscriminado de suplementos alimentares. Conclui-se que a dismorfia muscular causa sofrimentos e prejuízos psicológicos, socioculturais e, desse modo, compromete a saúde das pessoas.

  6. Antimyosin scintigraphy in patients with acquired and hereditary muscular disorders

    Energy Technology Data Exchange (ETDEWEB)

    Loefberg, M. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland)); Liewendahl, K. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Savolainen, S. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Nikkinen, P. (Dept. of Clinical Chemistry, Helsinki Univ. Central Hospital (Finland)); Lamminen, A. (Dept. of Radiology, Helsinki Univ. Central Hospital (Finland)); Tiula, E. (First Dept. of Internal Medicine, Helsinki Univ. Central Hospital (Finland)); Somer, H. (Dept. of Neurology, Helsinki Univ. Central Hospital (Finland))

    1994-10-01

    Scintigraphy with indium-111 labelled antimyosin has an established role in the evaluation of cardiac muscle damage. This antibody has been shown to cross-react with myosin in skeletal muscle. We therefore studied the usefulness of this method for the detection of skeletal muscle lesions in rhabdomyolysis, myositis and hereditary muscular dystrophies. All nine patients with rhabdomyolysis had focal uptake of antimyosin antibody which correlated with the clinical findings of soft tissue damage. However, a number of symptomless lesions were also detected by immunoscintigraphy. In rhabdomyolysis the target to non-target uptake ratios varied from 1.3 to 7.6. Diffuse uptake of antibody in skeletal muscle was observed in all three patients with polymyositis-dermatomyositis and in 12 out of 13 patients with muscular dystrophies. In myositis the intensity of antibody accumulation correlated reasonably well with the magnitude of oedema detected by magnetic resonance imaging (MRI). Most patients with Becker type or non-X-chromosomal muscular dystrophies showed slight or moderate uptake of antibody, mainly in the lower extremities. In these patients more antibody accumulated in the calves than in the thighs, whereas the findings on MRI were more prominent in the thighs than in the calves, presumably because of the better preserved muscle bulk in the calves. We conclude that antimyosin scintigraphy can be used for the detection of muscle lesions not only in acquired muscle diseases but also in hereditary muscular disorders, and that immunoscintigraphy provides information on muscle disease activity not obtainable with MRI. (orig.)

  7. Phosphorylation of intact erythrocytes in human muscular dystrophy

    International Nuclear Information System (INIS)

    Johnson, R.M.; Nigro, M.

    1986-01-01

    The uptake of exogenous 32 Pi into the membrane proteins of intact erythrocytes was measured in 8 patients with Duchenne muscular dystrophy. No abnormalities were noted after autoradiographic analysis. This contrasts with earlier results obtained when isolated membranes were phosphorylated with gamma-[ 32 P]ATP, and suggests a possible reinterpretation of those experiments

  8. Cardiac Complications of Fukuyama-Type Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-07-01

    Full Text Available The course of left ventricular function was evaluated using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy (FCMD, in a study at the Tokyo Women’s Medical University, Tokyo, Japan.

  9. Phonological Awareness Skills in Young Boys with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Waring, Phoebe; Woodyatt, Gail

    2011-01-01

    Substantial research has detailed the reading deficits experienced by children with Duchenne muscular dystrophy (DMD). Although phonological awareness (PA) is vital in reading development, little is known about PA in the DMD population. This pilot study describes the PA abilities of a group of five young children with DMD, comparing the results…

  10. Poor Facial Affect Recognition among Boys with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Hinton, V. J.; Fee, R. J.; De Vivo, D. C.; Goldstein, E.

    2007-01-01

    Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a…

  11. Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy

    NARCIS (Netherlands)

    de Visser, M.; Verbeeten, B.

    1985-01-01

    Clinical and computed tomographic (CT) findings in 3 manifesting carriers of Duchenne muscular dystrophy are reported. CT proved to be an important adjunct to the clinical examination: in all our 3 cases a decrease in density was found in various non-paretic muscles

  12. Occupational Potential in a Population with Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Schkade, Janette K.; And Others

    1987-01-01

    Twenty-five males with Duchenne muscular dystrophy were tested to assess their potential for occupational activity. Tests measured possible sensory deficits, strength, endurance, and fatigue in response to sustained fine motor activity. Results indicate that, within limitations, persons with this diagnosis can engage in activity leading to skill…

  13. The Assessment of Intelligence in Boys with Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Mearig, Judith S.

    1979-01-01

    Challenges assumptions and research procedures leading to the position that below-average intellectual potential is an integral part of Duchenne muscular dystrophy. A study of 58 boys (ages 5 to 18) from urban, suburban, and rural settings indicated IQ range of 59 to 131 and no evidence of significant verbal deficit (reported in earlier studies).…

  14. Muscular visualisation on a bone scan in paraneoplastic ...

    African Journals Online (AJOL)

    Immunosuppressive therapy based on oral prednisone and endoxan followed by molecular targeted therapy (Herceptin and taxotere) improved the myositis and cutaneous eruption. Tree months later, creatine kinase level and muscular uptake of 99mTc-MDP dramatically decreased (B). Pan African Medical Journal 2016; ...

  15. Instructions to Adopt an External Focus Enhance Muscular Endurance

    Science.gov (United States)

    Marchant, David C.; Greig, Matt; Bullough, Jonathan; Hitchen, Daniel

    2011-01-01

    The influence of internal (movement focus) and external (outcome focus) attentional-focusing instructions on muscular endurance were investigated using three exercise protocols with experienced exercisers. Twenty-three participants completed a maximal repetition, assisted bench-press test on a Smith's machine. An external focus of attention…

  16. Swallow Characteristics in Patients with Oculopharyngeal Muscular Dystrophy

    Science.gov (United States)

    Palmer, Phyllis M.; Neel, Amy T.; Sprouls, Gwyneth; Morrison, Leslie

    2010-01-01

    Purpose: This prospective investigation evaluates oral weakness and its impact on swallow function, weight, and quality of life in patients with oculopharyngeal muscular dystrophy (OPMD). Method: Intraoral pressure, swallow pressure, and endurance were measured using an Iowa Oral Performance Instrument in participants with OPMD and matched…

  17. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

    NARCIS (Netherlands)

    Raaphorst, J.; Tol, M.J. van; Groot, P.F.M.; Altena, E.; Werf, Y.D. van der; Majoie, C.B.; Kooi, A.J. van der; Berg, L.H. van den; Schmand, B.A.; Visser, M de; Veltman, D.J.

    2014-01-01

    OBJECTIVE: To examine brain activation patterns during verbal fluency performance in patients with progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS). METHODS: fMRI was used to examine the blood oxygen level-dependent response during letter and category fluency performance in

  18. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

    NARCIS (Netherlands)

    Raaphorst, Joost; van Tol, Marie-Jose; Groot, Paul F. C.; Altena, Ellemarije; van der Werf, Ysbrand D.; Majoie, Charles B.; van der Kooi, Anneke J.; van den Berg, Leonard H.; Schmand, Ben; de Visser, Marianne; Veltman, Dick J.

    2014-01-01

    Objective: To examine brain activation patterns during verbal fluency performance in patients with progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS). Methods: fMRI was used to examine the blood oxygen level-dependent response during letter and category fluency performance in

  19. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

    NARCIS (Netherlands)

    Raaphorst, Joost; van Tol, Marie-José; Groot, Paul F. C.; Altena, Ellemarije; van der Werf, Ysbrand D.; Majoie, Charles B.; van der Kooi, Anneke J.; van den Berg, Leonard H.; Schmand, Ben; de Visser, Marianne; Veltman, Dick J.

    2014-01-01

    To examine brain activation patterns during verbal fluency performance in patients with progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS). fMRI was used to examine the blood oxygen level-dependent response during letter and category fluency performance in 18 patients with

  20. Age-related differences in muscular capacity among workers

    NARCIS (Netherlands)

    Hamberg-van Reenen, H.H.; Beek, A.J. van der; Blatter, B.M.

    2009-01-01

    Purpose: To quantify the age-related changes in muscular capacity in a working population, and to investigate whether these changes are dependent on sports participation. Methods: Data were used from the longitudinal study on musculoskeletal disorders, absenteeism, stress and health (n = 1,800). At

  1. Dasatinib as a treatment for Duchenne muscular dystrophy.

    Science.gov (United States)

    Lipscomb, Leanne; Piggott, Robert W; Emmerson, Tracy; Winder, Steve J

    2016-01-15

    Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models, we have identified tyrosine phosphorylation and degradation of β-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus, preventing tyrosine phosphorylation and degradation of β-dystroglycan presents itself as a potential therapeutic strategy. Using the dystrophic sapje zebrafish, we have investigated the use of tyrosine kinase and other inhibitors to treat the dystrophic symptoms in this model of Duchenne muscular dystrophy. Dasatinib, a potent and specific Src tyrosine kinase inhibitor, was found to decrease the levels of β-dystroglycan phosphorylation on tyrosine and to increase the relative levels of non-phosphorylated β-dystroglycan in sapje zebrafish. Furthermore, dasatinib treatment resulted in the improved physical appearance of the sapje zebrafish musculature and increased swimming ability as measured by both duration and distance of swimming of dasatinib-treated fish compared with control animals. These data suggest great promise for pharmacological agents that prevent the phosphorylation of β-dystroglycan on tyrosine and subsequent steps in the degradation pathway as therapeutic targets for the treatment of Duchenne muscular dystrophy. © The Author 2015. Published by Oxford University Press.

  2. Physical complaints in ageing persons with spinal muscular atrophy.

    NARCIS (Netherlands)

    Groot, I.J.M. de; Witte, L.P de

    2005-01-01

    OBJECTIVE: While life expectancy is improving for persons with spinal muscular atrophy, new physical complaints may arise. To investigate this, we studied persons with a long duration and severe course (high functional limitations) of the disease. DESIGN: Cross-sectional descriptive study.

  3. Muscular system in interna of Peltogaster paguri (Rhizocephala: Peltogastridae).

    Science.gov (United States)

    Miroliubov, Aleksei A

    2017-03-01

    Rhizocephalan parasites have a peculiar life cycle, and their adults lost almost all traits found usually in Crustacea. Despite some data on anatomy and ultrastructure of interna of Peltogastridae, some crucial aspects of morphology are still unknown. For example, there is only one mentioning of myocytes found in interna of Rhizocephalans (Sacculina carcini). So we aimed at studying the muscular system of the interna of Peltogaster paguri using serial histological sectioning and fluorescent staining (TRITC-labeled phalloidin) with confocal microscopy. Within the wall of the main trunk we found striated muscular fibers. The majority of these fibers form a unidirectional single spiral. There are additional small fibers that connect the coils of the large spiral. The density of muscular fibers is highest near the externa stalk, and the number of muscle fibers decreases towards the distal part of the main trunk. We suggest that such a muscular system could provide peristaltic movements of the main trunk and the transport of nutrients through the interna. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Antisense mediated exon skipping therapy for duchenne muscular dystrophy (DMD)

    DEFF Research Database (Denmark)

    Brolin, Camilla; Shiraishi, Takehiko

    2011-01-01

    Duchenne Muscular Dystrophy (DMD) is a lethal disease caused by mutations in the dystrophin gene (DMD) that result in the absence of essential muscle protein dystrophin. Among many different approaches for DMD treatment, exon skipping, mediated by antisense oligonucleotides, is one of the most...

  5. Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy.

    Science.gov (United States)

    Brinkmeyer-Langford, Candice; Balog-Alvarez, Cynthia; Cai, James J; Davis, Brian W; Kornegay, Joe N

    2016-08-22

    Duchenne muscular dystrophy (DMD) causes progressive muscle degeneration, cardiomyopathy and respiratory failure in approximately 1/5,000 boys. Golden Retriever muscular dystrophy (GRMD) resembles DMD both clinically and pathologically. Like DMD, GRMD exhibits remarkable phenotypic variation among affected dogs, suggesting the influence of modifiers. Understanding the role(s) of genetic modifiers of GRMD may identify genes and pathways that also modify phenotypes in DMD and reveal novel therapies. Therefore, our objective in this study was to identify genetic modifiers that affect discrete GRMD phenotypes. We performed a linear mixed-model (LMM) analysis using 16 variably-affected dogs from our GRMD colony (8 dystrophic, 8 non-dystrophic). All of these dogs were either full or half-siblings, and phenotyped for 19 objective, quantitative biomarkers at ages 6 and 12 months. Each biomarker was individually assessed. Gene expression profiles of 59 possible candidate genes were generated for two muscle types: the cranial tibialis and medial head of the gastrocnemius. SNPs significantly associated with GRMD biomarkers were identified on multiple chromosomes (including the X chromosome). Gene expression levels for candidate genes located near these SNPs correlated with biomarker values, suggesting possible roles as GRMD modifiers. The results of this study enhance our understanding of GRMD pathology and represent a first step toward the characterization of GRMD modifiers that may be relevant to DMD pathology. Such modifiers are likely to be useful for DMD treatment development based on their relationships to GRMD phenotypes.

  6. Stem cell transplantation for treating Duchenne muscular dystrophy

    Science.gov (United States)

    Yang, Xiaofeng

    2012-01-01

    OBJECTIVE: To identify global research trends in stem cell transplantation for treating Duchenne muscular dystrophy using a bibliometric analysis of Web of Science. DATA RETRIEVAL: We performed a bibliometric analysis of studies on stem cell transplantation for treating Duchenne muscular dystrophy from 2002 to 2011 retrieved from Web of Science. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed published articles on stem cell transplantation for treating Duchenne muscular dystrophy indexed in Web of Science; (b) original research articles, reviews, meeting abstracts, proceedings papers, book chapters, editorial material, and news items; and (c) publication between 2002 and 2011. Exclusion criteria: (a) articles that required manual searching or telephone access; (b) documents that were not published in the public domain; and (c) corrected papers. MAIN OUTCOME MEASURES: (1) Annual publication output; (2) distribution according to subject areas; (3) distribution according to journals; (4) distribution according to country; (5) distribution according to institution; (6) distribution according to institution in China; (7) distribution according to institution that cooperated with Chinese institutions; (8) top-cited articles from 2002 to 2006; (9) top-cited articles from 2007 to 2011. RESULTS: A total of 318 publications on stem cell transplantation for treating Duchenne muscular dystrophy were retrieved from Web of Science from 2002 to 2011, of which almost half derived from American authors and institutes. The number of publications has gradually increased over the past 10 years. Most papers appeared in journals with a focus on gene and molecular research, such as Molecular Therapy, Neuromuscular Disorders, and PLoS One. The 10 most-cited papers from 2002 to 2006 were mostly about different kinds of stem cell transplantation for muscle regeneration, while the 10 most-cited papers from 2007 to 2011 were mostly about new techniques of stem cell transplantation

  7. Spirometry improvement after muscular exercise in elite swimmers.

    Science.gov (United States)

    Rubini, Alessandro; Rizzato, Alex; Fava, Simone; Olivato, Nicola; Mangar, Devanand; Camporesi, Enrico M; Bosco, Gerardo

    2017-12-01

    An increased sympathetic activity during muscular effort is a well established physiological response, whose intensity is known to increase with the muscular load. Spirometry was described to improve as an effect of swimming training in healthy and asthmatic subjects, suggesting a decrease in airway resistance The aim was to investigate the possible effect of muscular exercise (swimming) on spirometry, in particular searching for possible differences because of different swimming times. The measurements were performed on 9 highly trained male competitive swimmers (age: 41±12.79 years, height: 1.69±0.06 meters, weight: 66.14±14.28 kg, BMI: 22.8±3.61 kg/m2) during an official competition. The data were collected at the border of the swimming-pool before (control, C) and few minutes after the swimming sessions (exercise, E), which consisted either of 800 meter (7 subjects) or 1500 meter (5 subjects) free style. A general trend indicating a postexercise increase in spirometry was observed. We found post-exercise significant increments in FEV1 and in MEF75 for both the 800 and 1500 meter swimming sessions, and in FEF25-75 and in MEF25 for the shorter distance. We conclude that, as it may be expected, muscular exercise induces an improvement of spirometry both because of a smooth muscle relaxation-induced modulation of airway diameter and resistance to airflow, and because of an enhanced expiratory muscle contraction strength. Both of these mechanisms are related to an increased sympathetic activity which is well known to accompany muscular exercise.

  8. BIOCHEMICAL MECHANISM OF AUTOLYTIC PROCESSES OF MUSCULAR TISSUE OF FISHES

    Directory of Open Access Journals (Sweden)

    L. V. Antipova

    2015-01-01

    Full Text Available The conducted researches allowed to establish that intensive disintegration of a muscular glycogen leads to sharp decrease in size рН muscular tissue in the sour party that in turn affects a chemical composition and physic-colloidal structure of proteins therefore: resistance of meat of fish to action of putrefactive microorganisms increases; solubility of muscle proteins, level of their hydration which is water connecting abilities decreases; there is a swelling of collagen of connecting fabric; activity of the cathepsin (an optimum рН 5,3 causing hydrolysis of proteins at later stages of an autolysis increases; the bicarbonate system of muscular tissue with release of carbon dioxide collapses; predecessors of taste and aroma of meat are formed; process of oxidation of lipids becomes more active. As a result of accumulation dairy, phosphoric and other acids in meat of fish concentration of hydrogen ions of that decrease рН is result increases. Sharply shown sour environment and availability of inorganic phosphorus is considered the reason of disintegration of an actin-myosin complex on actin and a myosin which begins after 8 hours of storage, i.e. there comes the period of relaxation of muscle fibers and the period of permission of an numbness, and then the last stage of maturing of meat – deep autolysis. Thus, on the basis of classical ideas of biochemical changes of meat of land animals and summarizing the obtained data on posthumous changes in muscular tissue of fishes, it is possible to draw a conclusion that they have similar nature of regularity in comparison with muscular tissue of land animals, but their main difference is higher speed of course of autolytic transformations. It in turn leads to faster change of FTS of meat of fishes who are the defining indicators when developing assortment groups of products taking into account stages of an autolysis in meat.

  9. A case of muscular sarcoidosis diagnosed by gallium-67 scintigraphy and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Sohn, Hyung Sun; Kim, Euy Neyng

    1999-01-01

    Gallium-67 scintigraphy is helpful in the assessment of active extrapulmonary sarcoidosis. Muscular involvement of sarcoidosis is often asymptomatic or nonspecific, and laboratory examinations do not provide convincing evidence of muscular involvement. We report a case of muscular sarcoidosis, which was detected by gallium-67 scintigraphy. In a patient who was suffering from fever and arthalgia of knee joint, gallium-67 scintigraphy showed mediastinal and hilar involvement of sarcoidosis with unexpected extensive muscular uptake. Magnetic resonance imaging revealed the detailed depiction of intramuscular infiltration of sarcoid granuloma. Gallium-67 scintigraphy is useful in detecting inflammatory muscular involvement of sarcoidosis as well as other multiorgan involvement

  10. Submersion and acute respiratory failure

    Directory of Open Access Journals (Sweden)

    Yu-Jang Su

    2014-01-01

    Conclusions: Submersion patients who are hypothermic on arrival of emergency department (ED are risky to respiratory failure and older, more hypothermic, longer hospital stay in suicidal submersion patients.

  11. Management of Postoperative Respiratory Failure.

    Science.gov (United States)

    Mulligan, Michael S; Berfield, Kathleen S; Abbaszadeh, Ryan V

    2015-11-01

    Despite best efforts, postoperative complications such as postoperative respiratory failure may occur and prompt recognition of the process and management is required. Postoperative respiratory failure, such as postoperative pneumonia, postpneumonectomy pulmonary edema, acute respiratory distress-like syndromes, and pulmonary embolism, are associated with high morbidity and mortality. The causes of these complications are multifactorial and depend on preoperative, intraoperative, and postoperative factors, some of which are modifiable. The article identifies some of the risk factors, causes, and treatment strategies for successful management of the patient with postoperative respiratory failure. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

    International Nuclear Information System (INIS)

    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-01-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results

  13. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

    Energy Technology Data Exchange (ETDEWEB)

    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-04-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.

  14. THE INFLUENCE OF HANDEDNESS ON THE DISTRIBUTION OF MUSCULAR WEAKNESS OF THE ARM IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

    NARCIS (Netherlands)

    BROUWER, OF; PADBERG, GW; VANDERPLOEG, RJO; RUYS, CJM; BRAND, R

    1992-01-01

    The strength of 10 muscle groups in both arms was measured using hand-held myometry to determine the influence of handedness on left-right differences of muscle strength in facioscapulohumeral muscular dystrophy (FSHD). Two groups of subjects were studied: 24 healthy volunteers (19 right-handed),

  15. Respiratory mass spectrometer

    Energy Technology Data Exchange (ETDEWEB)

    Mostert, J.W. (Pretoria Univ. (South Africa). Dept. of Anesthesiology)

    1983-06-01

    The high degree of technical perfection of the respiratory mass spectrometer has rendered the instrument feasible for routine monitoring of anesthetized patients. It is proposed that the difference between inspired and expired oxygen tension in mm Hg be equated with whole body oxygen consumption in ml/min/M/sup 2/ body-surface area at STPD, by the expedient of multiplying tension-differences by a factor of 2. Years of experience have confirmed the value of promptly recognizing sudden drops in this l/E tension difference below 50 mm Hg indicative of metabolic injury from hypovolemia or respiratory depression. Rises in l/E tension-differences were associated with shivering as well as voluntary muscle activity. Tension differences of less than 25 mm Hg (equated with a whole-body O/sub 2/ consumption of less than 50 ml O/sub 2//min/M/sup 2/) occurred in a patient in the sitting position for posterior fossa exploration without acidosis, hypoxia or hypotension for several hours prior to irreversible cardiac arrest. The value of clinical monitoring by mass spectrometry is especially impressive in open-heart surgery.

  16. The respiratory mass spectrometer

    International Nuclear Information System (INIS)

    Mostert, J.W.

    1983-01-01

    The high degree of technical perfection of the respiratory mass spectrometer has rendered the instrument feasible for routine monitoring of anesthetized patients. It is proposed that the difference between inspired and expired oxygen tension in mm Hg be equated with whole body oxygen consumption in ml/min/M 2 body-surface area at STPD, by the expedient of multiplying tension-differences by a factor of 2. Years of experience have confirmed the value of promptly recognizing sudden drops in this l/E tension difference below 50 mm Hg indicative of metabolic injury from hypovolemia or respiratory depression. Rises in l/E tension-differences were associated with shivering as well as voluntary muscle activity. Tension differences of less than 25 mm Hg (equated with a whole-body O 2 consumption of less than 50 ml O 2 /min/M 2 ) occurred in a patient in the sitting position for posterior fossa exploration without acidosis, hypoxia or hypotension for several hours prior to irreversible cardiac arrest. The value of clinical monitoring by mass spectrometry is especially impressive in open-heart surgery

  17. Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    Carmen Sílvia Valente Barbas

    2012-01-01

    Full Text Available This paper, based on relevant literature articles and the authors' clinical experience, presents a goal-oriented respiratory management for critically ill patients with acute respiratory distress syndrome (ARDS that can help improve clinicians' ability to care for these patients. Early recognition of ARDS modified risk factors and avoidance of aggravating factors during hospital stay such as nonprotective mechanical ventilation, multiple blood products transfusions, positive fluid balance, ventilator-associated pneumonia, and gastric aspiration can help decrease its incidence. An early extensive clinical, laboratory, and imaging evaluation of “at risk patients” allows a correct diagnosis of ARDS, assessment of comorbidities, and calculation of prognostic indices, so that a careful treatment can be planned. Rapid administration of antibiotics and resuscitative measures in case of sepsis and septic shock associated with protective ventilatory strategies and early short-term paralysis associated with differential ventilatory techniques (recruitment maneuvers with adequate positive end-expiratory pressure titration, prone position, and new extracorporeal membrane oxygenation techniques in severe ARDS can help improve its prognosis. Revaluation of ARDS patients on the third day of evolution (Sequential Organ Failure Assessment (SOFA, biomarkers and response to infection therapy allows changes in the initial treatment plans and can help decrease ARDS mortality.

  18. Acute respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    Marco Confalonieri

    2017-04-01

    Full Text Available Since its first description, the acute respiratory distress syndrome (ARDS has been acknowledged to be a major clinical problem in respiratory medicine. From July 2015 to July 2016 almost 300 indexed articles were published on ARDS. This review summarises only eight of them as an arbitrary overview of clinical relevance: definition and epidemiology, risk factors, prevention and treatment. A strict application of definition criteria is crucial, but the diverse resource-setting scenarios foster geographic variability and contrasting outcome data. A large international multicentre prospective cohort study including 50 countries across five continents reported that ARDS is underdiagnosed, and there is potential for improvement in its management. Furthermore, epidemiological data from low-income countries suggest that a revision of the current definition of ARDS is needed in order to improve its recognition and global clinical outcome. In addition to the well-known risk-factors for ARDS, exposure to high ozone levels and low vitamin D plasma concentrations were found to be predisposing circumstances. Drug-based preventive strategies remain a major challenge, since two recent trials on aspirin and statins failed to reduce the incidence in at-risk patients. A new disease-modifying therapy is awaited: some recent studies promised to improve the prognosis of ARDS, but mortality and disabling complications are still high in survivors in intensive care.

  19. [Ethical attitudes of intensive care paediatricians as regards patients with spinal muscular atrophy type 1].

    Science.gov (United States)

    Agra Tuñas, María Carmen; Hernández Rastrollo, Ramón; Hernández González, Arturo; Ramil Fraga, Carmen; Cambra Lasaosa, Francisco José; Quintero Otero, Sebastián; Ruiz Extremera, Angela; Rodríguez Núñez, Antonio

    2017-03-01

    Spinal muscular atrophy type 1 (SMA-1) is a progressive and fatal disease that leads to ethical problems for Paediatric professionals. Our objective was to determine the ethical options of Paediatric Intensive Care Unit (PICU) paediatricians as regards a child with SMA-1 and respiratory failure. A cross-sectional descriptive study was conducted using an anonymous questionnaire sent to PICUs in Spain (which can be accessed through the Spanish Society of Paediatric Critical Care web page). Of the 124 responses analysed, 70% were from women, 51% younger than 40 years, 54% from a PICU with more than 10 beds, 69% with prior experience in such cases, and 53% with religious beliefs. In the last patient cared for, most paediatricians opted for non-invasive mechanical ventilation (NIV) and limitation of therapeutic effort (LET) in case of NIV failure. Confronted with a future hypothetical case, half of paediatricians would opt for the same plan (NIV+LET), and 74% would support the family's decision, even in case of disagreement. Age, prior experience and sex were not related to the preferred options. Paediatricians with religious beliefs were less in favour of initial LET. Less than two-thirds (63%) scored the quality of life of a child with SMA-1 and invasive mechanical ventilation as very poor. Faced with child with SMA-1 and respiratory failure, most paediatricians are in favour of initiating NIV and LET when such support is insufficient, but they would accept the family's decision, even in case of disagreement. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. Caffeine ingestion acutely enhances muscular strength and power but not muscular endurance in resistance-trained men.

    Science.gov (United States)

    Grgic, Jozo; Mikulic, Pavle

    2017-09-01

    The goal of this randomized, double-blind, cross-over study was to assess the acute effects of caffeine ingestion on muscular strength and power, muscular endurance, rate of perceived exertion (RPE), and pain perception (PP) in resistance-trained men. Seventeen volunteers (mean ± SD: age = 26 ± 6 years, stature = 182 ± 9 cm, body mass = 84 ± 9 kg, resistance training experience = 7 ± 3 years) consumed placebo or 6 mg kg -1 of anhydrous caffeine 1 h before testing. Muscular power was assessed with seated medicine ball throw and vertical jump exercises, muscular strength with one-repetition maximum (1RM) barbell back squat and bench press exercises, and muscular endurance with repetitions of back squat and bench press exercises (load corresponding to 60% of 1RM) to momentary muscular failure. RPE and PP were assessed immediately after the completion of the back squat and bench press exercises. Compared to placebo, caffeine intake enhanced 1RM back squat performance (+2.8%; effect size [ES] = 0.19; p = .016), which was accompanied by a reduced RPE (+7%; ES = 0.53; p = .037), and seated medicine ball throw performance (+4.3%, ES = 0.32; p = .009). Improvements in 1RM bench press were not noted although there were significant (p = .029) decreases in PP related to this exercise when participants ingested caffeine. The results point to an acute benefit of caffeine intake in enhancing lower-body strength, likely due to a decrease in RPE; upper-, but not lower-body power; and no effects on muscular endurance, in resistance-trained men. Individuals competing in events in which strength and power are important performance-related factors may consider taking 6 mg kg -1 of caffeine pre-training/competition for performance enhancement.

  1. [Early exercise training after exacerbation in patients with chronic respiratory failure].

    Science.gov (United States)

    Takahashi, Hiromitsu; Molleyres, Sandrine; Dousse, Nicolas; Contal, Olivier; Janssens, Jean-Paul

    2011-11-23

    Patients who suffered from an exacerbation of a chronic respiratory disorder are often very limited in terms of their exercise capacity because of severe dyspnea and amyotrophy of peripheral muscles. Early implementation of pulmonary rehabilitation may help these patients to avoid the complications of a prolonged bedridden period, and increase more rapidly their mobility. Early rehabilitation has become more frequent, but requires special skills from the care givers (chest therapists). Techniques which enhance muscular performance and motility of patients who are recovering from an exacerbation such as electromoystimulation or mobilisation under non-invasive ventilation, give encouraging results; their impact on length of hospital stay requires further studies.

  2. Rocuronium-induced neuromuscular block and sugammadex in pediatric patient with duchenne muscular dystrophy

    Science.gov (United States)

    Kim, Ji Eun; Chun, Hea Rim

    2017-01-01

    Abstract Introduction: Anesthetic management of patients with Duchenne muscular dystrophy (DMD) is complicated because these patients are more sensitive to nondepolarizing neuromuscular blocking agents (NMBAs) and are vulnerable to postoperative complications, such as postoperative residual curarization and respiratory failure. Sugammadex is a new reversal agent for aminosteroidal NMBAs, but its safety in children is controversial. Clinical features: An 11-year-old boy with DMD underwent general anesthesia for a percutaneous nephrolithotomy. We used rocuronium bromide and sugammadex to reverse the deep neuromuscular block. Reversal of neuromuscular block was done 15 minutes after administration of 2 mg/kg of sugammadex. The patient's recovery from anesthesia was uneventful, and he was discharged to the postoperative recovery ward. Conclusion: A delayed recovery was achieved, but no adverse events were observed, such as recurarization or hypersensitivity to sugammadex. We report safe use of 2 mg/kg of sugammadex to reverse a deep neuromuscular block in a child with DMD. PMID:28353578

  3. Development of Multiexon Skipping Antisense Oligonucleotide Therapy for Duchenne Muscular Dystrophy

    Science.gov (United States)

    Yokota, Toshifumi; Wood, Matthew J. A.

    2013-01-01

    Duchenne muscular dystrophy (DMD) is an incurable, X-linked progressive muscle degenerative disorder that results from the absence of dystrophin protein and leads to premature death in affected individuals due to respiratory and/or cardiac failure typically by age of 30. Very recently the exciting prospect of an effective oligonucleotide therapy has emerged which restores dystrophin protein expression to affected tissues in DMD patients with highly promising data from a series of clinical trials. This therapeutic approach is highly mutation specific and thus is personalised. Therefore DMD has emerged as a model genetic disorder for understanding and overcoming of the challenges of developing personalised genetic medicines. One of the greatest weaknesses of the current oligonucleotide approach is that it is a mutation-specific therapy. To address this limitation, we have recently demonstrated that exons 45–55 skipping therapy has the potential to treat clusters of mutations that cause DMD, which could significantly reduce the number of compounds that would need to be developed in order to successfully treat all DMD patients. Here we discuss and review the latest preclinical work in this area as well as a variety of accompanying issues, including efficacy and potential toxicity of antisense oligonucleotides, prior to human clinical trials. PMID:23984357

  4. Perspective on Adeno-Associated Virus Capsid Modification for Duchenne Muscular Dystrophy Gene Therapy.

    Science.gov (United States)

    Nance, Michael E; Duan, Dongsheng

    2015-12-01

    Duchenne muscular dystrophy (DMD) is a X-linked, progressive childhood myopathy caused by mutations in the dystrophin gene, one of the largest genes in the genome. It is characterized by skeletal and cardiac muscle degeneration and dysfunction leading to cardiac and/or respiratory failure. Adeno-associated virus (AAV) is a highly promising gene therapy vector. AAV gene therapy has resulted in unprecedented clinical success for treating several inherited diseases. However, AAV gene therapy for DMD remains a significant challenge. Hurdles for AAV-mediated DMD gene therapy include the difficulty to package the full-length dystrophin coding sequence in an AAV vector, the necessity for whole-body gene delivery, the immune response to dystrophin and AAV capsid, and the species-specific barriers to translate from animal models to human patients. Capsid engineering aims at improving viral vector properties by rational design and/or forced evolution. In this review, we discuss how to use the state-of-the-art AAV capsid engineering technologies to overcome hurdles in AAV-based DMD gene therapy.

  5. 10 CFR 850.28 - Respiratory protection.

    Science.gov (United States)

    2010-01-01

    ... 10 Energy 4 2010-01-01 2010-01-01 false Respiratory protection. 850.28 Section 850.28 Energy... Respiratory protection. (a) The responsible employer must establish a respiratory protection program that complies with the respiratory protection program requirements of 29 CFR 1910.134, Respiratory Protection...

  6. Doping and respiratory system.

    Science.gov (United States)

    Casali, L; Pinchi, G; Puxeddu, E

    2007-03-01

    Historically many different drugs have been used to enhance sporting performances. The magic elixir is still elusive and the drugs are still used despite the heavy adverse effects. The respiratory system is regularly involved in this research probably because of its central location in the body with several connections to the cardiovascular system. Moreover people are aware that O2 consumption and its delivery to mitochondria firstly depend on ventilation and on the respiratory exchanges. The second step consists in the tendency to increase V'O2 max and to prolong its availability with the aim of improving the endurance time and to relieve the fatigue. Many methods and substances had been used in order to gain an artificial success. Additional oxygen, autologous and homologous transfusion and erythropoietin, mainly the synthetic type, have been administered with the aim of increasing the amount of oxygen being delivered to the tissues. Some compounds like stimulants and caffeine are endowed of excitatory activity on the CNS and stimulate pulmonary ventilation. They did not prove to have any real activity in supporting the athletic performances. Beta-adrenergic drugs, particularly clenbuterol, when administered orally or parenterally develop a clear illicit activity on the myosin fibres and on the muscles as a whole. Salbutamol, terbutaline, salmeterol and formoterol are legally admitted when administrated by MDI in the treatment of asthma. The prevalence of asthma and bronchial hyperactivity is higher in athletes than amongst the general population. This implies that clear rules must be provided to set a correct diagnosis of asthma in the athletes and a correct therapy to align with the actual guidelines according to the same rights of the "other" asthmatic patients.

  7. Recurrent Respiratory Papillomatosis or Laryngeal Papillomatosis

    Science.gov (United States)

    ... Home » Health Info » Voice, Speech, and Language Recurrent Respiratory Papillomatosis or Laryngeal Papillomatosis On this page: What ... find additional information about RRP? What is recurrent respiratory papillomatosis? Recurrent respiratory papillomatosis (RRP) is a disease ...

  8. Muscular dystrophies: key elements for everyday diagnosis and management

    Directory of Open Access Journals (Sweden)

    Alberto Palladino

    2013-12-01

    Full Text Available Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life. In recent years, cardiac involvement has been observed in a growing number of genetic muscle diseases, and considerable progress has been made in understanding the relationships between disease skeletal muscle and cardiac muscle disease. This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophinopathies including Duchenne (DMD and Becker (BMD muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy.

  9. Radionuclide study for cardiac lesion in Duchenne muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Oguni, Hirokazu; Osawa, Makiko; Shishikura, Keiko

    1985-12-01

    Tl-201 myocardial scintigraphy and radionuclide ventriculography with Tc-99m were performed in 10 patients with Duchenne muscular dystropohy (DMD) and 2 siblings with Becker muscular dystrophy (BMD). Perfusion defect especially in the left ventricular posterolateral wall (LVPLW) and cardiac apex was seen on Tl-201 imaging in 6 of the DMD patients and one of the BMD patients. For these patients, Tc-99m imaging also showed left ventricular local wall motion abnormality in 5 patients and a decreased left ventricular ejection fraction in 4 patients. These findings coincided well with fibrosis of the LVPLW found on autopsy. There were individual differences regarding the occurrence of cardiac complications. One of the BMD patients, as well as DMD patients, had also cardiac complications which have long been considered less common. (Namekawa, K.).

  10. Radionuclide study for cardiac lesion in Duchenne muscular dystrophy

    International Nuclear Information System (INIS)

    Oguni, Hirokazu; Osawa, Makiko; Shishikura, Keiko

    1985-01-01

    Tl-201 myocardial scintigraphy and radionuclide ventriculography with Tc-99m were performed in 10 patients with Duchenne muscular dystropohy (DMD) and 2 siblings with Becker muscular dystrophy (BMD). Perfusion defect especially in the left ventricular posterolateral wall (LVPLW) and cardiac apex was seen on Tl-201 imaging in 6 of the DMD patients and one of the BMD patients. For these patients, Tc-99m imaging also showed left ventricular local wall motion abnormality in 5 patients and a decreased left ventricular ejection fraction in 4 patients. These findings coincided well with fibrosis of the LVPLW found on autopsy. There were individual differences regarding the occurrence of cardiac complications. One of the BMD patients, as well as DMD patients, had also cardiac complications which have long been considered less common. (Namekawa, K.)

  11. Why short stature is beneficial in Duchenne muscular dystrophy.

    Science.gov (United States)

    Bodor, Marko; McDonald, Craig M

    2013-09-01

    Duchenne muscular dystrophy (DMD) is caused by a genetic defect resulting in absent dystrophin, yet children are able to walk when small and young but lose this ability as they grow. The mdx mouse has absent dystrophin yet does not exhibit significant disability. Allometric modeling of linearly increasing load per muscle fiber and stress on the sarcolemma with growth and exponential decline associated with loss of muscle fibers correlated with case studies and animal models of DMD. Smaller species or breeds are predictably less affected than large as follows: mdx mice muscular dystrophy (GRMD) dogs < large GRMD dogs < humans. Case reports of combined growth hormone and dystrophin deficiency show a relatively benign course of disease. Future therapeutic trials in DMD might include specific growth inhibitors in combination with standard of care treatments to delay the clinical onset and reduce the severity of disease and disability. Copyright © 2013 Wiley Periodicals, Inc.

  12. Fibrogenic Cell Plasticity Blunts Tissue Regeneration and Aggravates Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Patrizia Pessina

    2015-06-01

    Full Text Available Preservation of cell identity is necessary for homeostasis of most adult tissues. This process is challenged every time a tissue undergoes regeneration after stress or injury. In the lethal Duchenne muscular dystrophy (DMD, skeletal muscle regenerative capacity declines gradually as fibrosis increases. Using genetically engineered tracing mice, we demonstrate that, in dystrophic muscle, specialized cells of muscular, endothelial, and hematopoietic origins gain plasticity toward a fibrogenic fate via a TGFβ-mediated pathway. This results in loss of cellular identity and normal function, with deleterious consequences for regeneration. Furthermore, this fibrogenic process involves acquisition of a mesenchymal progenitor multipotent status, illustrating a link between fibrogenesis and gain of progenitor cell functions. As this plasticity also was observed in DMD patients, we propose that mesenchymal transitions impair regeneration and worsen diseases with a fibrotic component.

  13. Challenges to oligonucleotides-based therapeutics for Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Goyenvalle Aurélie

    2011-02-01

    Full Text Available Abstract Antisense oligonucleotides are short nucleic acids designed to bind to specific messenger RNAs in order to modulate splicing patterns or inhibit protein translation. As such, they represent promising therapeutic tools for many disorders and have been actively developed for more than 20 years as a form of molecular medicine. Although significant progress has been made in developing these agents as drugs, they are yet not recognized as effective therapeutics and several hurdles remain to be overcome. Within the last few years, however, the prospect of successful oligonucleotides-based therapies has moved a step closer, in particular for Duchenne muscular dystrophy. Clinical trials have recently been conducted for this myopathy, where exon skipping is being used to achieve therapeutic outcomes. In this review, the recent developments and clinical trials using antisense oligonucleotides for Duchenne muscular dystrophy are discussed, with emphasis on the challenges ahead for this type of therapy, especially with regards to delivery and regulatory issues.

  14. Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

    Directory of Open Access Journals (Sweden)

    Agnieszka Madej-Pilarczyk

    2016-03-01

    Full Text Available Emery-Dreifuss muscular dystrophy (EDMD, a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1 kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2, with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.

  15. Clinical Manifestations and Overall Management Strategies for Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Tsuda, Takeshi

    2018-01-01

    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. There are some central nervous system-related medical problems, as dystrophin is also expressed in the neuronal tissues. Although principal management is to mainly delay the pathological process, an enhanced understanding of underlying pathological processes has significantly improved quality of life and longevity for DMD patients. Future research in novel molecular approach is warranted to answer unanswered questions.

  16. [Optimal solution and analysis of muscular force during standing balance].

    Science.gov (United States)

    Wang, Hongrui; Zheng, Hui; Liu, Kun

    2015-02-01

    The present study was aimed at the optimal solution of the main muscular force distribution in the lower extremity during standing balance of human. The movement musculoskeletal system of lower extremity was simplified to a physical model with 3 joints and 9 muscles. Then on the basis of this model, an optimum mathematical model was built up to solve the problem of redundant muscle forces. Particle swarm optimization (PSO) algorithm is used to calculate the single objective and multi-objective problem respectively. The numerical results indicated that the multi-objective optimization could be more reasonable to obtain the distribution and variation of the 9 muscular forces. Finally, the coordination of each muscle group during maintaining standing balance under the passive movement was qualitatively analyzed using the simulation results obtained.

  17. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Mah, Jean K

    2018-01-01

    Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. Mutations of the DMD gene destabilize the dystrophin associated glycoprotein complex in the sarcolemma. Ongoing mechanical stress leads to unregulated influx of calcium ions into the sarcoplasm, with activation of proteases, release of proinflammatory cytokines, and mitochondrial dysfunction. Cumulative damage and reparative failure leads to progressive muscle necrosis, fibrosis, and fatty replacement. Although there is presently no cure for DMD, scientific advances have led to many potential disease-modifying treatments, including dystrophin replacement therapies, upregulation of compensatory proteins, anti-inflammatory agents, and other cellular targets. Recently approved therapies include ataluren for stop codon read-through and eteplirsen for exon 51 skipping of eligible individuals. The purpose of this chapter is to summarize the clinical features of DMD, to describe current outcome measures used in clinical studies, and to highlight new emerging therapies for affected individuals.

  18. The new frontier in muscular dystrophy research: booster genes

    DEFF Research Database (Denmark)

    Engvall, Eva; Wewer, Ulla M

    2003-01-01

    More than 30 different forms of muscular dystrophy (MD) have been molecularly characterized and can be diagnosed, but progress toward treatment has been slow. Gene replacement therapy has met with great difficulty because of the large size of the defective genes and because of difficulties...... of the boosters are better understood, drugs may be developed to provide the boost to muscle. Some of the experiences in models of muscular dystrophy may inspire new approaches in other genetic degenerative diseases as well....... in delivering a gene to all muscle groups. Cell replacement therapy has also been difficult to realize. Will it even be possible to design specific therapy protocols for all MDs? Or is a more realistic goal to treat some of the secondary manifestations that are common to several forms of MD, such as membrane...

  19. Is recurrent respiratory infection associated with allergic respiratory disease?

    Science.gov (United States)

    de Oliveira, Tiago Bittencourt; Klering, Everton Andrei; da Veiga, Ana Beatriz Gorini

    2018-03-13

    Respiratory infections cause high morbidity and mortality worldwide. This study aims to estimate the relationship between allergic respiratory diseases with the occurrence of recurrent respiratory infection (RRI) in children and adolescents. The International Study of Asthma and Allergies in Childhood questionnaire and a questionnaire that provides data on the history of respiratory infections and the use of antibiotics were used to obtain data from patients. The relationship between the presence of asthma or allergic rhinitis and the occurrence of respiratory infections in childhood was analyzed. We interviewed the caregivers of 531 children aged 0 to 15 years. The average age of participants was 7.43 years, with females accounting for 52.2%. This study found significant relationship between: presence of asthma or allergic rhinitis with RRI, with prevalence ratio (PR) of 2.47 (1.51-4.02) and 1.61 (1.34-1.93), respectively; respiratory allergies with use of antibiotics for respiratory problems, with PR of 5.32 (2.17-13.0) for asthma and of 1.64 (1.29-2.09) for allergic rhinitis; asthma and allergic rhinitis with diseases of the lower respiratory airways, with PR of 7.82 (4.63-13.21) and 1.65 (1.38-1.96), respectively. In contrast, no relationship between upper respiratory airway diseases and asthma and allergic rhinitis was observed, with PR of 0.71 (0.35-1.48) and 1.30 (0.87-1.95), respectively. RRI is associated with previous atopic diseases, and these conditions should be considered when treating children.

  20. Ultrastructural muscle and neuro-muscular junction alterations in polymyositis

    Directory of Open Access Journals (Sweden)

    L. L. Babakova

    2012-01-01

    Full Text Available Ultrastructural analysis of 7 biopsies from m.palmaris longus and m.deltoideus in patients with confirmed polymyositis revealed alterationand degeneration of muscle fibers and anomalies of neuro-muscular junction (NMJ. The NMJ abnormalities and following denervation ofmuscle fibers in polymyositis start with subsynaptic damages. The occurance of regeneration features in muscle fibers at any stage is characteristic for PM.

  1. Muscular strength and incident hypertension in normotensive and prehypertensive men.

    Science.gov (United States)

    Maslow, Andréa L; Sui, Xuemei; Colabianchi, Natalie; Hussey, Jim; Blair, Steven N

    2010-02-01

    The protective effects of cardiorespiratory fitness (CRF) on hypertension (HTN) are well known; however, the association between muscular strength and incidence of HTN has yet to be examined. This study evaluated the strength-HTN association with and without accounting for CRF. Participants were 4147 men (age = 20-82 yr) in the Aerobics Center Longitudinal Study for whom an age-specific composite muscular strength score was computed from measures of a one-repetition maximal leg and a one-repetition maximal bench press. CRF was quantified by maximal treadmill exercise test time in minutes. Cox proportional hazards regression analysis was used to estimate hazard ratios (HR) and 95% confidence intervals of incident HTN events according to exposure categories. During a mean follow-up of 19 yr, there were 503 incident HTN cases. Multivariable-adjusted (excluding CRF) HR of HTN in normotensive men comparing middle- and high-strength thirds to the lowest third were not significant at 1.17 and 0.84, respectively. Multivariable-adjusted (excluding CRF) HR of HTN in baseline prehypertensive men comparing middle- and high-strength thirds to the lowest third were significant at 0.73 and 0.72 (P = 0.01 each), respectively. The association between muscular strength and incidence of HTN in baseline prehypertensive men was no longer significant after control for CRF (P = 0.26). The study indicated that middle and high levels of muscular strength were associated with a reduced risk of HTN in prehypertensive men only. However, this relationship was no longer significant after controlling for CRF.

  2. A bedside measure of body composition in Duchenne muscular dystrophy.

    Science.gov (United States)

    Elliott, Sarah A; Davidson, Zoe E; Davies, Peter S W; Truby, Helen

    2015-01-01

    In clinical practice, monitoring body composition is a critical component of nutritional assessment and weight management in boys with Duchenne muscular dystrophy. We aimed to evaluate the accuracy of a simple bedside measurement tool for body composition, namely bioelectrical impedance analysis, in boys with Duchenne muscular dystrophy. Measures of fat-free mass were determined using a bioelectrical impedance analysis machine and compared against estimations obtained from a reference body composition model. Additionally, the use of raw impedance values was analyzed using three existing predictive equations for the estimation of fat-free mass. Accuracy of bioelectrical impedance analysis was assessed by comparison against the reference model by calculation of biases and limits of agreement. Body composition was measured in 10 boys with Duchenne muscular dystrophy, mean age 9.01 ± 2.34 years. The bioelectrical impedance analysis machine values of fat-free mass were on average 2.3 ± 14.1 kg higher than reference values. Limits of agreement (based on 95% confidence interval of the mean) were -7.4 to 2.9 kg. There was a significant correlation between the mean fat-free mass and difference in fat-free mass between the bioelectrical impedance analysis machine and the reference model (r = -0.86; P = 0.02) suggesting that the bias was not consistent across the range of measurements. The most accurate predictive equation for the estimation of fat-free mass using raw impedance values was the equation by Pietrobelli et al. (mean difference, -0.7 kg; 95% limits of agreement, -3.5 to 2.0 kg). In a clinical setting, where a rapid assessment of body composition is advantageous, the use of raw impedance values, combined with the equation by Pietrobelli et al., is recommended for the accurate estimation of fat-free mass, in boys with Duchenne muscular dystrophy. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Dystrophin Immunity in Duchenne’s Muscular Dystrophy

    OpenAIRE

    Mendell, Jerry R.; Campbell, Katherine; Rodino-Klapac, Louise; Sahenk, Zarife; Shilling, Chris; Lewis, Sarah; Bowles, Dawn; Gray, Steven; Li, Chengwen; Galloway, Gloria; Malik, Vinod; Coley, Brian; Clark, K. Reed; Li, Juan; Xiao, Xiao

    2010-01-01

    We report on delivery of a functional dystrophin transgene to skeletal muscle in six patients with Duchenne’s muscular dystrophy. Dystrophin-specific T cells were detected after treatment, providing evidence of transgene expression even when the functional protein was not visualized in skeletal muscle. Circulating dystrophin-specific T cells were unexpectedly detected in two patients before vector treatment. Revertant dystrophin fibers, which expressed functional, truncated dystrophin from th...

  4. Kinematics, muscular activity and propulsion in gopher snakes

    Science.gov (United States)

    Moon; Gans

    1998-10-01

    Previous studies have addressed the physical principles and muscular activity patterns underlying terrestrial lateral undulation in snakes, but not the mechanism by which muscular activity produces curvature and propulsion. In this study, we used synchronized electromyography and videography to examine the muscular basis and propulsive mechanism of terrestrial lateral undulation in gopher snakes Pituophis melanoleucus affinis. Specifically, we used patch electrodes to record from the semispinalis, longissimus dorsi and iliocostalis muscles in snakes pushing against one or more pegs. Axial bends propagate posteriorly along the body and contact the pegs at or immediately posterior to an inflection of curvature, which then reverses anterior to the peg. The vertebral column bends broadly around a peg, whereas the body wall bends sharply and asymmetrically around the anterior surface of the peg. The epaxial muscles are always active contralateral to the point of contact with a peg; they are activated slightly before or at the point of maximal convexity and deactivated variably between the inflection point and the point of maximal concavity. This pattern is consistent with muscular shortening and the production of axial bends, although variability in the pattern indicates that other muscles may affect the mechanics of the epaxial muscles. The kinematic and motor patterns in snakes crawling against experimentally increased drag indicated that forces are produced largely by muscles that are active in the axial bend around each peg, rather than by distant muscles from which the forces might be transmitted by connective tissues. At each point of force exertion, the propulsive mechanism of terrestrial lateral undulation may be modeled as a type of cam-follower, in which continuous bending of the trunk around the peg produces translation of the snake.

  5. Muscular involvement by malignant lymphoma: CT and MR findings

    International Nuclear Information System (INIS)

    Kim, Baek Hyun

    2000-01-01

    To investigate the CT and MR findings of muscular involvement by malignant lymphoma. Thirteen patients with biopsy-proved muscular involvement by malignant lymphoma were included in this study. Two patients were primary muscle lymphoma and 11 patients were muscle lymphoma by secondary involvement of malignant lymphoma. CT of 10 patients (6 pre-contrast CT and 9 postcontrast CT) and MRI of 6 patients (all with pre a nd post-contrast studies) were retrospectively analyzed. In the majority of patients (84.6%, 11/13), the appearance of muscular involvement was the diffuse enlargement of several muscles as like as a group. The muscles involved by malignant lymphoma showed iso-attenuation (5/6) and homogeneity (6/6) on pre-contrast CT scan, and high attenuation (5/9) or iso-attenuation (4/9) and homogeneity (7/9) on post-contrast CT scan. The signal intensity of involved muscle showed slightly hyper- (4/6) or iso-intense (2/6) and homogeneous (6/6) on T1-weighted images, and hyper-intense (6/6) and homogeneous (4/6) on T2- and Gadolinium-enhanced T1-weighted images. Adjacent bone change was demonstrated in 69.2% (9/13), subcutaneous fat change in 61.5% (8/13), and neurovascular encasement within involved muscle in 53.8% (7/13). The CT and MR findings of muscular involvement by malignant lymphoma were diffuse enlargement of several muscles with homogeneous attenuation or signal intensity, and frequent changes in adjacent bones and subcutaneous fat, or neurovascular encasement. (author)

  6. Dysrhythmias of the respiratory oscillator

    Science.gov (United States)

    Paydarfar, David; Buerkel, Daniel M.

    1995-03-01

    Breathing is regulated by a central neural oscillator that produces rhythmic output to the respiratory muscles. Pathological disturbances in rhythm (dysrhythmias) are observed in the breathing pattern of children and adults with neurological and cardiopulmonary diseases. The mechanisms responsible for genesis of respiratory dysrhythmias are poorly understood. The present studies take a novel approach to this problem. The basic postulate is that the rhythm of the respiratory oscillator can be altered by a variety of stimuli. When the oscillator recovers its rhythm after such perturbations, its phase may be reset relative to the original rhythm. The amount of phase resetting is dependent upon stimulus parameters and the level of respiratory drive. The long-range hypothesis is that respiratory dysrhythmias can be induced by stimuli that impinge upon or arise within the respiratory oscillator with certain combinations of strength and timing relative to the respiratory cycle. Animal studies were performed in anesthetized or decerebrate preparations. Neural respiratory rhythmicity is represented by phrenic nerve activity, allowing use of open-loop experimental conditions which avoid negative chemical feedback associated with changes in ventilation. In animal experiments, respiratory dysrhythmias can be induced by stimuli having specific combinations of strength and timing. Newborn animals readily exhibit spontaneous dysrhythmias which become more prominent at lower respiratory drives. In human subjects, swallowing was studied as a physiological perturbation of respiratory rhythm, causing a pattern of phase resetting that is characterized topologically as type 0. Computational studies of the Bonhoeffer-van der Pol (BvP) equations, whose qualitative behavior is representative of many excitable systems, supports a unified interpretation of these experimental findings. Rhythmicity is observed when the BvP model exhibits recurrent periods of excitation alternating with

  7. Chronic Dosing with Membrane Sealant Poloxamer 188 NF Improves Respiratory Dysfunction in Dystrophic Mdx and Mdx/Utrophin-/- Mice.

    Directory of Open Access Journals (Sweden)

    Bruce E Markham

    Full Text Available Poloxamer 188 NF (national formulary (NF grade of P-188 improves cardiac muscle function in the mdx mouse and golden retriever muscular dystrophy models. However in vivo effects on skeletal muscle have not been reported. We postulated that P-188 NF might protect diaphragm muscle membranes from contraction-induced injury in mdx and mdx/utrophin-/- (dko muscular dystrophy models. In the first study 7-month old mdx mice were treated for 22 weeks with subcutaneous (s.c. injections of saline or P-188 NF at 3 mg/Kg. In the second, dkos were treated with saline or P-188 NF (1 mg/Kg for 8 weeks beginning at age 3 weeks. Prednisone was the positive control in both studies. Respiratory function was monitored using unrestrained whole body plethysmography. P-188 NF treatment affected several respiratory parameters including tidal volume/BW and minute volume/BW in mdx mice. In the more severe dko model, P-188 NF (1 mg/Kg significantly slowed the decline in multiple respiratory parameters compared with saline-treated dko mice. Prednisone's effects were similar to those seen with P-188 NF. Diaphragms from P-188 NF or prednisone treated mdx and dko mice showed signs of muscle fiber protection including less centralized nuclei, less variation in fiber size, greater fiber density, and exhibited a decreased amount of collagen deposition. P-188 NF at 3 mg/Kg s.c. also improved parameters of systolic and diastolic function in mdx mouse hearts. These results suggest that P-188 NF may be useful in treating respiratory and cardiac dysfunction, the leading causes of death in Duchenne muscular dystrophy patients.

  8. Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

    Science.gov (United States)

    Latimer, Rebecca; Street, Natalie; Conway, Kristin Caspers; James, Kathy; Cunniff, Christopher; Oleszek, Joyce; Fox, Deborah; Ciafaloni, Emma; Westfield, Christina; Paramsothy, Pangaja

    2017-06-01

    Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38.4%), constipation (31.7%), anxiety (29.3%), depression (27.4%), and obesity (19.5%). Higher frequencies of anxiety, depression, and kidney stones were found among nonambulatory males compared to ambulatory males. Attention-deficit hyperactivity disorder (ADHD) was more common in ambulatory than nonambulatory males. These data support clinical care recommendations for monitoring of patients with Duchenne or Becker muscular dystrophy by a multidisciplinary team to prevent and treat conditions that may be secondary to the diagnosis.

  9. Emerging genetic therapies to treat Duchenne muscular dystrophy

    Science.gov (United States)

    Nelson, Stanley F.; Crosbie, Rachelle H.; Miceli, M. Carrie; Spencer, Melissa J.

    2010-01-01

    Purpose of review Duchenne muscular dystrophy is a progressive muscle degenerative disease caused by dystrophin mutations. The purpose of this review is to highlight two emerging therapies designed to repair the primary genetic defect, called `exon skipping' and `nonsense codon suppression'. Recent findings A drug, PTC124, was identified that suppresses nonsense codon translation termination. PTC124 can lead to restoration of some dystrophin expression in human Duchenne muscular dystrophy muscles with mutations resulting in premature stops. Two drugs developed for exon skipping, PRO051 and AVI-4658, result in the exclusion of exon 51 from mature mRNA. They can restore the translational reading frame to dystrophin transcripts from patients with a particular subset of dystrophin gene deletions and lead to some restoration of dystrophin expression in affected boys' muscle in vivo. Both approaches have concluded phase I trials with no serious adverse events. Summary These novel therapies that act to correct the primary genetic defect of dystrophin deficiency are among the first generation of therapies tailored to correct specific mutations in humans. Thus, they represent paradigm forming approaches to personalized medicine with the potential to lead to life changing treatment for those affected by Duchenne muscular dystrophy. PMID:19745732

  10. Muscular and Cardiorespiratory Fitness in Homeschool versus Public School Children.

    Science.gov (United States)

    Kabiri, Laura S; Mitchell, Katy; Brewer, Wayne; Ortiz, Alexis

    2017-08-01

    The growth and unregulated structure of homeschooling creates an unknown population in regard to muscular and cardiorespiratory fitness. The purpose of this research was to compare muscular and cardiorespiratory fitness between elementary school aged homeschool and public school children. Homeschool children ages 8-11 years old (n = 75) completed the curl-up, 90° push-up, and Progressive Aerobic Capacity Endurance Run (PACER) portions of the FitnessGram to assess abdominal and upper body strength and endurance as well as cardiorespiratory fitness. Comparisons to public school children (n = 75) were made using t tests and chi-square tests. Homeschool children showed significantly lower abdominal (t(148) = -11.441, p fitness by total PACER laps (t(108) = 0.879, p = .381) or estimated VO 2max (t(70) = 1.187, p = .239; χ 2 (1) = 1.444, p = .486). Homeschool children showed significantly lower levels of both abdominal and upper body muscular fitness compared with their age and gender matched public school peers but no difference in cardiorespiratory fitness.

  11. Gay male attraction toward muscular men: does mating context matter?

    Science.gov (United States)

    Varangis, Eleanna; Lanzieri, Nicholas; Hildebrandt, Tom; Feldman, Matthew

    2012-03-01

    The purpose of this study was to examine gay men's perceived attractiveness of male figures based on short-term and long-term partner contexts. A sample of 190 gay adult men rated the attractiveness of line-drawings depicting male figures varying systematically in muscularity and body fat percentage in both short-term and long-term dating contexts. Mixed effects modeling was used to estimate the effects of figure (muscularity and body fat), dating context (short-term vs. long-term), and individual rater characteristics on attractiveness ratings. Results indicated that figure muscularity and body-fat had significant non-linear (i.e., quadratic) relationships with attractiveness ratings, and short-term dating context was associated with more discriminating ratings of attractiveness. Interactions between individual characteristics and figure characteristics indicated that the more available the individual and lower body fat, the more discriminating they were in ratings of attractiveness. The implications for future investigations considering both object and observer characteristics of attractiveness preferences are discussed. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. Composite biomarkers for assessing Duchenne muscular dystrophy: an initial assessment.

    Science.gov (United States)

    Shklyar, Irina; Pasternak, Amy; Kapur, Kush; Darras, Basil T; Rutkove, Seward B

    2015-02-01

    Compared with individual parameters, composite biomarkers may provide a more effective means for monitoring disease progression and the effects of therapy in clinical trials than single measures. In this study, we built composite biomarkers for use in Duchenne muscular dystrophy by combining values from two objective measures of disease severity: electrical impedance myography and quantitative ultrasound and evaluating how well they correlated to standard functional measures. Using data from an ongoing study of electrical impedance myography and quantitative ultrasound in 31 Duchenne muscular dystrophy and 26 healthy boys aged 2-14 years, we combined data sets by first creating z scores based on the normal subject data and then using simple mathematical operations (addition and multiplication) to create composite measures. These composite scores were then correlated to age and standard measures of function including the 6-minute walk test, the North Star Ambulatory Assessment, and handheld dynamometry. Combining data sets resulted in stronger correlations with all four outcomes than for either electrical impedance myography or quantitative ultrasound alone in six of eight instances. These improvements reached statistical significance (P Duchenne muscular dystrophy clinical trials is warranted. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Effects of operative treatment for muscular asthenopia caused by esophoria

    Directory of Open Access Journals (Sweden)

    Tao Zeng

    2016-05-01

    Full Text Available AIM:To observe the effects of operative treatment for muscular asthenopia caused by esophoria. METHODS:Twenty-one cases(42 eyeswith muscular asthenopia caused by esophoria were included. After examination of refraction, phoria and fusion function, all cases were given operative treatment to correct esophoria. RESULTS:At 1wk after surgery, clinical symptoms were improved evidently in all cases, such as headache, diplopia and eye swelling. After followed up for 1a, no recrudescence was found. Before surgery, at 1wk and 1a after surgery, esophoria in the distance were 20.3△±6.3△,-3.1△±1.4△,0.7△±1.6△ respectively and esophoria in the near distance were 10.5△±3.1△,-1.3△±0.6△,1.5△±0.8△ respectively. By comparison of esophoria before and after surgery in different stages separately, the differences were statistically(PP>0.05. CONCLUSION:Esophoria operation may relieve obviously muscular asthenopia caused by esophoria without changing fusion function.

  14. O retardo mental na distrofia muscular de Duchenne

    Directory of Open Access Journals (Sweden)

    Flávia Nardes

    2012-02-01

    Full Text Available OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. FONTES DOS DADOS: Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. SÍNTESE DOS DADOS: Os pacientes com distrofia muscular de Duchenne apresentaram atraso para marcha e desenvolvimento da linguagem, os quais se correlacionaram a menores pontuações nos testes de inteligência no futuro. Há marcante disfunção nos subtestes das habilidades verbais. CONCLUSÕES: A média do coeficiente de inteligência encontra-se com um desvio padrão abaixo da média populacional. Quanto maior a disfunção cognitiva, piores serão os aspectos relacionados à morbidade e mortalidade na doença.

  15. Respiratory muscle involvement in sarcoidosis.

    Science.gov (United States)

    Schreiber, Tina; Windisch, Wolfram

    2018-07-01

    In sarcoidosis, muscle involvement is common, but mostly asymptomatic. Currently, little is known about respiratory muscle and diaphragm involvement and function in patients with sarcoidosis. Reduced inspiratory muscle strength and/or a reduced diaphragm function may contribute to exertional dyspnea, fatigue and reduced health-related quality of life. Previous studies using volitional and non-volitional tests demonstrated a reduced inspiratory muscle strength in sarcoidosis compared to control subjects, and also showed that respiratory muscle function may even be significantly impaired in a subset of patients. Areas covered: This review examines the evidence on respiratory muscle involvement and its implications in sarcoidosis with emphasis on pathogenesis, diagnosis and treatment of respiratory muscle dysfunction. The presented evidence was identified by a literature search performed in PubMed and Medline for articles about respiratory and skeletal muscle function in sarcoidosis through to January 2018. Expert commentary: Respiratory muscle involvement in sarcoidosis is an underdiagnosed condition, which may have an important impact on dyspnea and health-related quality of life. Further studies are needed to understand the etiology, pathogenesis and extent of respiratory muscle involvement in sarcoidosis.

  16. Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

    Science.gov (United States)

    Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella

    2013-12-01

    Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time. Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

  17. Dexmedetomidine-ketamine sedation during bone marrow aspirate and biopsy in a patient with duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Andrew Rozmiarek

    2011-01-01

    Full Text Available Sedation during invasive procedures not only provides appropriate humanitarian care for patients, but also facilitates the completion of invasive procedures. Although generally safe and effective, adverse effects may occur especially in patients with co-morbid diseases. We present the successful use of a combination of dexmedetomidine and ketamine to provide sedation and analgesia in a 21-year-old patient with Duchenne muscular dystrophy (DMD undergoing bone marrow aspiration and biopsy. Co-morbidities included both depressed myocardial function and impaired respiratory function. Dexmedetomidine was administered as a loading dose of 1 μg/kg over 5 min followed by an infusion of 1 μg/kg/h. Ketamine (20 mg was administered along with the dexmedetomidine loading dose. An additional 10 mg of ketamine was administered to treat the pain experienced during the placement of the local anesthetic agent prior to the procedure. No clinically significant hemodynamic or respiratory changes were noted. The patient tolerated the procedure well and was discharged home. A review of previously published reports of dexmedetomidine and ketamine for procedural sedation are reviewed.

  18. Respiratory effort from the photoplethysmogram.

    Science.gov (United States)

    Addison, Paul S

    2017-03-01

    The potential for a simple, non-invasive measure of respiratory effort based on the pulse oximeter signal - the photoplethysmogram or 'pleth' - was investigated in a pilot study. Several parameters were developed based on a variety of manifestations of respiratory effort in the signal, including modulation changes in amplitude, baseline, frequency and pulse transit times, as well as distinct baseline signal shifts. Thirteen candidate parameters were investigated using data from healthy volunteers. Each volunteer underwent a series of controlled respiratory effort maneuvers at various set flow resistances and respiratory rates. Six oximeter probes were tested at various body sites. In all, over three thousand pleth-based effort-airway pressure (EP) curves were generated across the various airway constrictions, respiratory efforts, respiratory rates, subjects, probe sites, and the candidate parameters considered. Regression analysis was performed to determine the existence of positive monotonic relationships between the respiratory effort parameters and resulting airway pressures. Six of the candidate parameters investigated exhibited a distinct positive relationship (poximeter probe and an ECG (P2E-Effort) and the other using two pulse oximeter probes placed at different peripheral body sites (P2-Effort); and baseline shifts in heart rate, (BL-HR-Effort). In conclusion, a clear monotonic relationship was found between several pleth-based parameters and imposed respiratory loadings at the mouth across a range of respiratory rates and flow constrictions. The results suggest that the pleth may provide a measure of changing upper airway dynamics indicative of the effort to breathe. Copyright © 2017 The Author. Published by Elsevier Ltd.. All rights reserved.

  19. Aerobic exercise and respiratory muscle strength in patients with cystic fibrosis.

    Science.gov (United States)

    Dassios, Theodore; Katelari, Anna; Doudounakis, Stavros; Dimitriou, Gabriel

    2013-05-01

    The beneficial role of exercise in maintaining health in patients with cystic fibrosis (CF) is well described. Few data exist on the effect of exercise on respiratory muscle function in patients with CF. Our objective was to compare respiratory muscle function indices in CF patients that regularly exercise with those CF patients that do not. This cross-sectional study assessed nutrition, pulmonary function and respiratory muscle function in 37 CF patients that undertook regular aerobic exercise and in a control group matched for age and gender which consisted of 44 CF patients that did not undertake regular exercise. Respiratory muscle function in CF was assessed by maximal inspiratory pressure (Pimax), maximal expiratory pressure (Pemax) and pressure-time index of the respiratory muscles (PTImus). Median Pimax and Pemax were significantly higher in the exercise group compared to the control group (92 vs. 63 cm H2O and 94 vs. 64 cm H2O respectively). PTImus was significantly lower in the exercise group compared to the control group (0.089 vs. 0.121). Upper arm muscle area (UAMA) and mid-arm muscle circumference were significantly increased in the exercise group compared to the control group (2608 vs. 2178 mm2 and 23 vs. 21 cm respectively). UAMA was significantly related to Pimax in the exercising group. These results suggest that CF patients that undertake regular aerobic exercise maintain higher indices of respiratory muscle strength and lower PTImus values, while increased UAMA values in exercising patients highlight the importance of muscular competence in respiratory muscle function in this population. Copyright © 2013 Elsevier Ltd. All rights reserved.

  20. Nuevos conceptos sobre el sistema muscular peribucal News concepts on the peribucal muscular system

    Directory of Open Access Journals (Sweden)

    J.D. Giacomotti

    2009-06-01

    Full Text Available Realizamos una revisión de la musculatura perioral considerándola como un verdadero sistema y analizamos la participación muscular en las distintas funciones de los labios, introduciendo aquí la noción de un músculo buccinador compuesto por dos sectores: uno superior y otro inferior, con acciones e inervación diferentes. A partir de este enfoque, investigamos la dinámica comisural, a saber: acercamiento (oclusión-proyección labial y separación de las comisuras, así como también su elevación y descenso. En este aspecto enfatizamos sobre la intervención del sector superior del buccinador (junto a la columna canino-triangular en la oclusión-proyección labial y la del sector inferior del músculo como integrante del sistema de contención de la saliva al mantener aplicada la mejilla contra la arcada dentaria. Finalmente remarcamos la presencia de las ramas temporal y cervical del nervio facial señalando los límites de cada una y la importancia que esto representa en el normal funcionamiento del aparato labial.A review of perioral muscles is made considering theme as a real system. We analyze the muscle involvement in the various functions of the lips, introducing the notion of a buccinator muscle composed by two parts: an upper one and a lower one, with different functions and innervation. Therefore, the comisural dynamic is investigated, determining the approchement (lip occlusion-projection and commissure separation as well as its elevation and descend. It's emphasized that the buccinator upper sector (together with the caninotriangular column takes part in the lip occlusion -projection and that the buccinator lower sector is a salival containment system which applies the cheek against the dentary arcade. Finally, it's been highlighted the distribution of the facial nerve branches (cervical and temporal ones in order to denote their importance in the normal function of the lip complex.

  1. Auscultation of the respiratory system

    Science.gov (United States)

    Sarkar, Malay; Madabhavi, Irappa; Niranjan, Narasimhalu; Dogra, Megha

    2015-01-01

    Auscultation of the lung is an important part of the respiratory examination and is helpful in diagnosing various respiratory disorders. Auscultation assesses airflow through the trachea-bronchial tree. It is important to distinguish normal respiratory sounds from abnormal ones for example crackles, wheezes, and pleural rub in order to make correct diagnosis. It is necessary to understand the underlying pathophysiology of various lung sounds generation for better understanding of disease processes. Bedside teaching should be strengthened in order to avoid erosion in this age old procedure in the era of technological explosion. PMID:26229557

  2. Auscultation of the respiratory system

    Directory of Open Access Journals (Sweden)

    Malay Sarkar

    2015-01-01

    Full Text Available Auscultation of the lung is an important part of the respiratory examination and is helpful in diagnosing various respiratory disorders. Auscultation assesses airflow through the trachea-bronchial tree. It is important to distinguish normal respiratory sounds from abnormal ones for example crackles, wheezes, and pleural rub in order to make correct diagnosis. It is necessary to understand the underlying pathophysiology of various lung sounds generation for better understanding of disease processes. Bedside teaching should be strengthened in order to avoid erosion in this age old procedure in the era of technological explosion.

  3. Tratamento da distrofia muscular progressiva com lactato de sódio Treatment of progressive muscular dystrophy with sodium lactate

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1969-12-01

    Full Text Available Com base em trabalhos anteriores, 13 casos de distrofia muscular progressiva foram tratados com lactato de sódio 1/6 molar associado a ATP e complexo B. O exame da força muscular, realizado antes e após o tratamento — salvo em dois casos nos quais ocorreram melhoras muito discretas — não mostrou qualquer efeito favorável da medicação. Os autores sugerem a verificação de possíveis alterações enzimáticas provocadas pelo lactato de sódio, o que serviria para melhor avaliação do efeito terapêutico.Thirteen cases of progressive muscular dystrophy were treated with 1/6 M. sodium lactate plus ATP and B complex. Examinations of muscle strength, before and after the treatment, did not show any favourable effects, except in two of the cases which showed slight improvement. The authors suggest that possible enzimatic alterations caused by the sodium lactate be checked up on, since this checking could be employed in the evaluation of the therapeutic effects.

  4. Respiratory Viruses in Febrile Neutropenic Patients with Respiratory Symptoms

    Directory of Open Access Journals (Sweden)

    Mohsen Meidani

    2018-01-01

    Full Text Available Background: Respiratory infections are a frequent cause of fever in neutropenic patients, whereas respiratory viral infections are not frequently considered as a diagnosis, which causes high morbidity and mortality in these patients. Materials and Methods: This prospective study was performed on 36 patients with neutropenia who admitted to hospital were eligible for inclusion with fever (single temperature of >38.3°C or a sustained temperature of >38°C for more than 1 h, upper and lower respiratory symptoms. Sampling was performed from the throat of the patient by the sterile swab. All materials were analyzed by quantitative real-time multiplex polymerase chain reaction covering the following viruses; influenza, parainfluenza virus (PIV, rhinovirus (RV, human metapneumovirus, and respiratory syncytial virus (RSV. Results: RV was the most frequently detected virus and then RSV was the most. PIV was not present in any of the tested samples. Furthermore, no substantial differences in the distribution of specific viral species were observed based on age, sex, neutropenia duration, hematological disorder, and respiratory tract symptoms and signs (P > 0.05. Conclusion: Our prospective study supports the hypothesis that respiratory viruses play an important role in the development of neutropenic fever, and thus has the potential to individualize infection treatment and to reduce the extensive use of antibiotics in immunocompromised patients with neutropenia.

  5. Men, Muscles, and Eating Disorders: an Overview of Traditional and Muscularity-Oriented Disordered Eating.

    Science.gov (United States)

    Lavender, Jason M; Brown, Tiffany A; Murray, Stuart B

    2017-06-01

    There is growing recognition that eating disorder (ED) symptoms, particularly those of a muscularity-oriented nature, are more common in men than previously understood. The purpose of the current review is to describe contemporary directions and implications of research on traditional and muscularity-oriented ED symptoms among males. Evidence indicates that ED symptoms occur in a substantial minority of men. Importantly, recent research has focused on muscularity-oriented body image and disordered eating in males, demonstrating the prevalence, correlates, and consequences of maladaptive muscularity-oriented attitudes and behaviors. A growing number of assessments are available to measure these constructs in males, and preliminary treatment considerations have begun to be addressed in the literature. Research on male EDs and body image is increasingly focusing on muscularity-oriented manifestations. Continued empirical work will be critical to improve our understanding of the onset, maintenance, and treatment of muscularity-oriented disordered eating in males.

  6. Is drive for muscularity related to body checking behaviors in men athletes?

    Directory of Open Access Journals (Sweden)

    Leonardo de Sousa Fortes

    Full Text Available Abstract The aim of this study was to analyze the relationship between drive for muscularity and body checking behaviors in men athletes. Two hundred and twelve Brazilian athletes over 15 years of age participated. We used the Drive for Muscularity Scale (DMS to evaluate the drive for muscularity. The Male Body Checking Questionnaire was used to assess body checking behaviors. The findings demonstrated a relationship between the "body image-oriented muscularity" subscale of the DMS and body checking behaviors (p = 0.001. The results indicated differences in body checking among athletes with high and low levels of drive for muscularity. We concluded that drive for muscularity was related to body checking behaviors in men athletes.

  7. Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Gosal Gurinder S

    2011-03-01

    Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

  8. Development of Non-Hormonal Steroids for the Treatment of Duchenne Muscular Dystrophy

    Science.gov (United States)

    2013-02-01

    constructs envisioned in gene therapy, are also expressed in Becker muscular dystrophy (alleles of dystrophinopathy leading to milder disease). In other words...the Treatment of Duchenne Muscular Dystrophy PRINCIPAL INVESTIGATOR: Terence Partridge, PhD CONTRACTING ORGANIZATION: Children’s...Duchenne Muscular Dystrophy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-1-0754 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Terence Partridge

  9. The Effect of Aging on Muscular Dynamics Underlying Movement Patterns Changes.

    Science.gov (United States)

    Vernooij, Carlijn A; Rao, Guillaume; Berton, Eric; Retornaz, Frédérique; Temprado, Jean-Jacques

    2016-01-01

    Introduction: Aging leads to alterations not only within the complex subsystems of the neuro-musculo-skeletal system, but also in the coupling between them. Here, we studied how aging affects functional reorganizations that occur both within and between the behavioral and muscular levels, which must be coordinated to produce goal-directed movements. Using unimanual reciprocal Fitts' task, we examined the behavioral and muscular dynamics of older adults (74.4 ± 3.7 years) and compared them to those found for younger adults (23.2 ± 2.0 years). Methods: To achieve this objective, we manipulated the target size to trigger a phase transition in the behavioral regime and searched for concomitant signatures of a phase transition in the muscular coordination. Here, muscular coordination was derived by using the method of muscular synergy extraction. With this technique, we obtained functional muscular patterns through non-negative matrix factorization of the muscular signals followed by clustering the resulting synergies. Results: Older adults showed a phase transition in behavioral regime, although, in contrast to young participants, their kinematic profiles did not show a discontinuity. In parallel, muscular coordination displayed two typical signatures of a phase transition, that is, increased variability of coordination patterns and a reorganization of muscular synergies. Both signatures confirmed the existence of muscular reorganization in older adults, which is coupled with change in dynamical regime at behavioral level. However, relative to young adults, transition occurred at lower index of difficulty (ID) in older participants and the reorganization of muscular patterns lasted longer (over multiple IDs). Discussion: This implies that consistent changes occur in coordination processes across behavior and muscle. Furthermore, the repertoire of muscular patterns was reduced and somewhat modified for older adults, relative to young participants. This suggests that

  10. Emerging strategies for cell and gene therapy of the muscular dystrophies

    OpenAIRE

    Muir, Lindsey A.; Chamberlain, Jeffrey S.

    2009-01-01

    The muscular dystrophies are a heterogeneous group of over 40 disorders that are characterised by muscle weakness and wasting. The most common are Duchenne muscular dystrophy and Becker muscular dystrophy, which result from mutations within the gene encoding dystrophin; myotonic dystrophy type 1, which results from an expanded trinucleotide repeat in the myotonic dystrophy protein kinase gene; and facioscapulohumeral dystrophy, which is associated with contractions in the subtelomeric region ...

  11. House Dust Mite Respiratory Allergy

    DEFF Research Database (Denmark)

    Calderón, Moisés A; Kleine-Tebbe, Jörg; Linneberg, Allan

    2015-01-01

    Although house dust mite (HDM) allergy is a major cause of respiratory allergic disease, specific diagnosis and effective treatment both present unresolved challenges. Guidelines for the treatment of allergic rhinitis and asthma are well supported in the literature, but specific evidence on the e......Although house dust mite (HDM) allergy is a major cause of respiratory allergic disease, specific diagnosis and effective treatment both present unresolved challenges. Guidelines for the treatment of allergic rhinitis and asthma are well supported in the literature, but specific evidence...... not extend beyond the end of treatment. Finally, allergen immunotherapy has a poor but improving evidence base (notably on sublingual tablets) and its benefits last after treatment ends. This review identifies needs for deeper physician knowledge on the extent and impact of HDM allergy in respiratory disease...... and therapy of HDM respiratory allergy in practice....

  12. Employee guide to respiratory protection

    International Nuclear Information System (INIS)

    Wright, E.M.

    1982-01-01

    This employee guide discusses use of respiratory protective equipment for particulates, gases, vapors, supplied air, and self-contained breathing apparatus. It also covers equipment selection medical factors, fitting criteria; care; and employee responsibilities

  13. A Laboratory Experiment on Muscular Metabolism and Fatigue Using the Isolated Frog Muscle Preparation.

    Science.gov (United States)

    Ianuzzo, C. David; And Others

    1987-01-01

    Describes an experiment which demonstrates the association of particular metabolic biochemical changes and muscular fatigue. Highlights applications related to cellular energy metabolism, metabolic regulation, and muscle energetics. (ML)

  14. The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

    OpenAIRE

    Seixas, Sandra Lopes; Lagrota-Cândido, Jussara; Savino, Wilson; Quirico-Santos, Thereza

    1997-01-01

    O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1) e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nest...

  15. Computed tomography of skeletal muscles in childhood spinal progressive muscular atrophies

    International Nuclear Information System (INIS)

    Arai, Yumi; Osawa, Makiko; Sumida, Sawako; Shishikura, Keiko; Suzuki, Haruko; Fukuyama, Yukio; Kohno, Atsushi

    1992-01-01

    Computed tomographic (CT) scanning of skeletal muscles was performed in patients with type 1 and type 2 spinal progressive muscular atrophy (SPMA) and Kugelberg-Welander disease (K-W) to delineate the characteristic CT features of each category. Marked muscular atrophy was observed in type 1 SPMA, and both muscular atrophy and intramuscular low density areas in type 2 SPMA, changes being more pronounced in older patients. In contrast, in K-W, muscular atrophy was slight, and intramuscular low density areas constituted the most prominent findings. These observations indicate that SPMA and K-W are each characterized by distinct CT findings. (author)

  16. Climate Change and Respiratory Infections.

    Science.gov (United States)

    Mirsaeidi, Mehdi; Motahari, Hooman; Taghizadeh Khamesi, Mojdeh; Sharifi, Arash; Campos, Michael; Schraufnagel, Dean E

    2016-08-01

    The rate of global warming has accelerated over the past 50 years. Increasing surface temperature is melting glaciers and raising the sea level. More flooding, droughts, hurricanes, and heat waves are being reported. Accelerated changes in climate are already affecting human health, in part by altering the epidemiology of climate-sensitive pathogens. In particular, climate change may alter the incidence and severity of respiratory infections by affecting vectors and host immune responses. Certain respiratory infections, such as avian influenza and coccidioidomycosis, are occurring in locations previously unaffected, apparently because of global warming. Young children and older adults appear to be particularly vulnerable to rapid fluctuations in ambient temperature. For example, an increase in the incidence in childhood pneumonia in Australia has been associated with sharp temperature drops from one day to the next. Extreme weather events, such as heat waves, floods, major storms, drought, and wildfires, are also believed to change the incidence of respiratory infections. An outbreak of aspergillosis among Japanese survivors of the 2011 tsunami is one such well-documented example. Changes in temperature, precipitation, relative humidity, and air pollution influence viral activity and transmission. For example, in early 2000, an outbreak of Hantavirus respiratory disease was linked to a local increase in the rodent population, which in turn was attributed to a two- to threefold increase in rainfall before the outbreak. Climate-sensitive respiratory pathogens present challenges to respiratory health that may be far greater in the foreseeable future.

  17. 33 CFR 142.39 - Respiratory protection.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 false Respiratory protection. 142.39... Respiratory protection. (a) Personnel in an atmosphere specified under ANSI Z88.2, requiring the use of respiratory protection equipment shall wear the type of respiratory protection equipment specified in ANSI Z88...

  18. Importância do camundongo mdx na fisiopatologia da distrofia muscular de Duchenne The importance of mdx mouse in the pathophysiology of Duchenne's muscular distrophy

    Directory of Open Access Journals (Sweden)

    Sandra Lopes Seixas

    1997-09-01

    Full Text Available O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1 e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da distrofia muscular de Duchenne. As alterações estruturais no tecido muscular associadas à mionecrose e presença do infiltrado inflamatório com predomínio de linfócitos e monócitos/macrófagos sugerem uma participação do sistema imunológico nesta miopatia. Além disso a modulação na expressão dos componentes da matriz extracelular no microambiente muscular nas várias fases da doença (início, mionecrose, regeneração indicam um papel importante do conjuntivo no direcionamento das células inflamatórias para o foco da lesão muscular. O camundongo mdx coloca-se como um excelente modelo para o estudo dos mecanismos patogenéticos da mionecrose e regeneração na distrofia muscular de Duchenne, possibilitando inclusive o desenvolvimento de estratégias terapêuticas mais adequadas.The mdx mouse develop an X-linked recessive muscular dystrophy (locus Xp21.1 and lack dystrophin expression. Despite showing less intense myofibrosis and scarce deposition of fatty tissue, mdx mice are considered an adequate animal model for studies on the pathogenesis of Duchenne-type muscular dystrophy. Marked histological alterations in the muscular tissues associated to myonecrosis and inflammatory mononuclear cell infiltrate (lymphocytes, monocytes/macrophages suggest a participation of the immune system in this myopathy. Modulation of the extracellular matrix (ECM components in the muscular tissue during all phases (onset, myonecrosis and regeneration of disease, indicate an important role for the ECM driving inflammatory cells to the foci of lesion. Therefore mdx mice should be regarded as an important tool for studies on pathogenetic mechanisms of Duchenne-type muscular dystrophy. Such

  19. Corticosteroid therapy for duchenne muscular dystrophy: improvement of psychomotor function.

    Science.gov (United States)

    Sato, Yuko; Yamauchi, Akemi; Urano, Mari; Kondo, Eri; Saito, Kayoko

    2014-01-01

    Of the numerous clinical trials for Duchenne muscular dystrophy, only the corticosteroid prednisolone has shown potential for temporal improvement in motor ability. In this study, the effects of prednisolone on intellectual ability are examined in 29 cases of Duchenne muscular dystrophy because little information has been reported. And also, motor functions and cardiac functions were evaluated. The treated group was administered prednisolone (0.75 mg/kg) orally on alternate days and the compared with the untreated control group. Gene mutations were investigated. The patients were examined for intelligence quotient adequate for age, brain natriuretic peptide, creatine kinase, and manual muscle testing before treatment and after the period 6 months to 2 years. Intelligence quotient scores of the treated increased to 6.5 ± 11.9 (mean ± standard deviation) were compared with the controls 2.1 ± 4.9 (P = 0.009). Intelligence quotient scores of the patients with nonsense point mutations improved significantly (21.0 ± 7.9) more than those with deletion or duplication (1.9 ± 9.0; P = 0.015). Motor function, such as time to stand up, of those treated improved significantly and brain natriuretic peptide level was reduced to a normal level after treatment in 15 patients (73%). Our results demonstrate the effectiveness of prednisolone in improving intellectual impairment as well as in preserving motor function and brain natriuretic peptide levels. We presume that prednisolone has a read-through effect on the stop codons in the central nervous systems of Duchenne muscular dystrophy because intelligence quotient of point mutation case was improved significantly. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. Decreased Nocturnal Movements in Patients with Facioscapulohumeral Muscular Dystrophy

    Science.gov (United States)

    Marca, Giacomo Della; Frusciante, Roberto; Dittoni, Serena; Vollono, Catello; Losurdo, Anna; Testani, Elisa; Scarano, Emanuele; Colicchio, Salvatore; Iannaccone, Elisabetta; Tonali, Pietro A.; Ricci, Enzo

    2010-01-01

    Study Objectives: Reduced mobility during sleep characterizes a variety of movement disorders and neuromuscular diseases. Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy in the general population, and people with FSHD have poor sleep quality. The aims of the present study were to evaluate nocturnal motor activity in patients with FSHD by means of videopolysomnography and to verify whether activity was associated with modifications in sleep structure. Methods: We enrolled 32 adult patients affected by genetically confirmed FSHD (18 women and 14 men, mean age 45.1 ± 13.4 years) and 32 matched control subjects, (18 women and 14 men, mean age 45.5 ± 11.4 years). Major body movements (MBM) were scored in videopolygraphic recordings in accordance with established criteria. An MBM index was calculated (number of MBM per hour of sleep). Results: The FSHD group showed a decrease in the MBM index (FSHD: 1.2 ± 1.1; control subjects: 2.3 ± 1.2, analysis of variance F = 13.672; p = 0.008). The sleep pattern of patients with FSHD, as compared with that of controls, was characterized by longer sleep latencies, shorter sleep durations, an increased percentage of wake during sleep, and a decreased percentage of rapid eye movement sleep. In the patient group, the MBM index was inversely correlated with severity of disease (Spearman test: r30 = −0.387; p Marca GD; Frusciante R; Dittoni S; Vollono C; Losurdo A; Testani E; Scarano E; Colicchio S; Iannaccone E; Tonali PA; Ricci E. Decreased nocturnal movements in patients with facioscapulohumeral muscular dystrophy. J Clin Sleep Med 2010;6(3):276-280. PMID:20572422

  1. Esclerodermia associada a atividade elétrica muscular continua

    Directory of Open Access Journals (Sweden)

    José Antonio Levy

    1965-12-01

    Full Text Available É relatado o caso de um paciente do sexo masculino, de 15 anos de idade, que apresentava dificuldade para movimentar os braços e para abrir a bôca, além de dispnéia, evoluindo lentamente há dois anos. O exame neurológico revelou hipertonia em todo o corpo, predominando em alguns grupos musculares que se achavam fortemente contraturados, obrigando o paciente a assumir atitudes anormais, impossibilitando-o, ainda, de abrir a bôca e de respirar livremente, dada a grande diminuição da expansibilidade torácica. O exame eletromiográfico revelou a presença de atividade muscular contínua, mesmo durante o repouso, caracterizada por descargas de alta freqüência, as quais persistiram após bloqueio anestésico de nervo periférico e após anestesia geral, sõmente sendo eliminados pelo curare. Com o diagnóstico de esclerodermia e de miosite, embora só a primeira dessas moléstias pudesse ser comprovada anátomo-patològicamente, o paciente foi tratado com corti-costeróides, tendo havido discreta melhora do quadro clínico, sobretudo em relação aos movimentos respiratórios e à abertura da bôca. Tendo, então, o conhecimento de dois casos semelhantes estudados por Isaacs em 1961, com o nome de síndrome da atividade contínua da fibra muscular, os quais haviam sido curados com o uso de hidantoinato de sódio, os autores empregaram esta mesma medicação, tendo verificado, após alguns dias, a diminuição acentuada da atividade anormal pelo exame eletromiográfico.

  2. [Analogies between heart and respiratory muscle failure. Importance to clinical practice].

    Science.gov (United States)

    Köhler, D

    2009-01-01

    Heart failure is an established diagnosis. Respiratory muscle or ventilatory pump failure, however, is less well known. The latter becomes obvious through hypercapnia, caused by hypoventilation. The respiratory centre tunes into hypercapnea in order to prevent the danger of respiratory muscle overload (hypercapnic ventilatory failure). Hypoventilation will consecutively cause hypoxemia but this will not be responsible for performance limitation. One therefore has to distinguish primary hypoxemia evolving from diseases in the lung parenchyma. Here hypoxemia is the key feature and compensatory hyperventilation usually decreases PaCO2 levels. The cardiac as well as the respiratory pump adapt to an inevitable burden caused by chronic disease. In either case organ muscle mass will increase. If the burden exceeds the range of possible physiological adaptation, compensatory mechanisms will set in that are similar in both instances. During periods of overload either muscle system is mainly fueled by muscular glycogen. In the recovery phase (e. g. during sleep) stores are replenished, which can be recognized by down-regulation of the blood pressure in case of the cardiac pumb or by augmentation of hypercapnia through hypoventilation in case of the respiratory pump. The main function of cardiac and respiratory pump is maintenance of oxygen transport. The human body has developed certain compensatory mechanisms to adapt to insufficient oxygen supply especially during periods of overload. These mechanisms include shift of the oxygen binding curve, expression of respiratory chain isoenzymes capable of producing ATP at lower partial pressures of oxygen and the development of polyglobulia. Medically or pharmacologically the cardiac pump can be unloaded with beta blockers, the respiratory pump by application of inspired oxygen. Newer forms of therapy augment the process of recovery. The heart can be supported through bypass surgery or intravascular pump systems, while respiratory

  3. Attend or defend? Sex differences in behavioral, autonomic, and respiratory response patterns to emotion-eliciting films.

    Science.gov (United States)

    Wilhelm, Frank H; Rattel, Julina A; Wegerer, Melanie; Liedlgruber, Michael; Schweighofer, Simon; Kreibig, Sylvia D; Kolodyazhniy, Vitaliy; Blechert, Jens

    2017-12-01

    Sex differences in emotional reactivity have been studied primarily for negative but less so for positive stimuli; likewise, sex differences in the psychophysiological response-patterning during such stimuli are poorly understood. Thus, the present study examined sex differences in response to negative/positive and high/low arousing films (classified as threat-, loss-, achievement-, and recreation-related, vs. neutral films), while measuring 18 muscular, autonomic, and respiratory parameters. Sex differences emerged for all films, but were most prominent for threat-related films: Despite equivalent valence and arousal ratings, women displayed more facial-muscular and respiratory responding than men and pronounced sympathetic activation (preejection period, other cardiovascular and electrodermal measures), while men showed coactivated sympathetic/parasympathetic responding (including increased respiratory sinus arrhythmia). This indicates a prototypical threat-related defense response in women, while men showed a pattern of sustained orienting, which can be understood as a shift toward less threat proximity in the defense cascade model. Clinical implications are discussed within a socio-evolutionary framework. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders

    DEFF Research Database (Denmark)

    Dahlqvist, Julia Rebecka; Vissing, John

    2016-01-01

    There is no curative treatment for most neuromuscular disorders. Exercise, as a treatment for these diseases, has therefore received growing attention. When executed properly, exercise can maintain and improve health and reduce the risk of cardiovascular disease, obesity, and diabetes. In persons...... in patients with neuromuscular diseases associated with weakness and wasting. We review studies that have investigated different types of exercise in both myopathies and motor neuron diseases, with particular emphasis on training of persons affected by spinobulbar muscular atrophy (SBMA). Finally, we provide...

  5. Lipoma con patrón infiltrativo muscular

    OpenAIRE

    Vergara Pages, Julio AJ; Ferrer Lozano, Yovanny; Rodríguez Reyna, Juan C.; Medina González, Maria E

    2006-01-01

    Los lipomas pueden crecer hasta alcanzar un gran tamaño y se clasifican en dos tipos: cutáneo o superficial, cuando se localizan encapsulados en los tejidos blandos superficiales; y profundo o subfascial, cuando su origen es poco delimitado o difuso y presentan estructuras profundas intraóseas, intermusculares e intramusculares. Esta última es poco usual, su localización puede pasar por desapercibida y toma un patrón de crecimiento infiltrativo a través de las fibras musculares estriadas, lo ...

  6. Neuropathology and Therapeutic Intervention in Spinal and Bulbar Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Haruhiko Banno

    2009-03-01

    Full Text Available Spinal and bulbar muscular atrophy (SBMA is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR. The histopathological finding in SBMA is loss of lower motor neurons in the anterior horn of the spinal cord as well as in the brainstem motor nuclei. Animal studies have revealed that the pathogenesis of SBMA depends on the level of serum testosterone, and that androgen deprivation mitigates neurodegeneration through inhibition of nuclear accumulation of the pathogenic AR. Heat shock proteins, ubiquitin-proteasome system and transcriptional regulation are also potential targets of therapy development for SBMA.

  7. Physical Activity as Cause and Cure Of Muscular Pain

    DEFF Research Database (Denmark)

    Søgaard, Karen; Sjøgaard, G

    2017-01-01

    Work-related physical activity (PA), in terms of peak loads, sustained and/or repetitive contractions presents risk factors for the development of muscular pain and disorders. However, PA as training tailored to the employee's work exposure, health, and physical capacity offers prevention...... and rehabilitation. We suggest the concept of "Intelligent Physical Exercise Training" relying on evidence-based sports science training principles.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where...

  8. The pyrophosphate heart scintigram in children with progressive muscular dystrophy

    International Nuclear Information System (INIS)

    Duska, F.; Nesvadba, Z.; Zdansky, P.; Novak, J.; Kubicek, J.; Kafka, P.; Vizda, J.; Mazurova, Y.; Karlova Univ., Hradec Kralove; Karlova Univ., Hradec Kralove

    1984-01-01

    A pyrophosphate heart scintigram was obtained in 16 boys with progressive muscular dystrophy Duchenne. All of them showed pathological ECG findings and high plasma levels of CK, AST, ALT and LD. In 4 patients the scintigram was distinctly positive and in further 3 it reached borderline values. The remaining 9 boys had normal scintigraphic findings. Those with a positive heart scintigram had very high plasma levels of the enzymes under study which was suggestive of current progression of the disease. There was, however, no relation between heart scintigraphy and the affliction of the skeletal muscles expressed by means of an index. (orig.) [de

  9. Pyrophosphate heart scintigram in children with progressive muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Duska, F; Nesvadba, Z; Zdansky, P; Novak, J; Kubicek, J; Kafka, P; Vizda, J; Mazurova, Y

    1984-08-01

    A pyrophosphate heart scintigram was obtained in 16 boys with progressive muscular dystrophy Duchenne. All of them showed pathological ECG findings and high plasma levels of CK, AST, ALT and LD. In 4 patients the scintigram was distinctly positive and in further 3 it reached borderline values. The remaining 9 boys had normal scintigraphic findings. Those with a positive heart scintigram had very high plasma levels of the enzymes under study which was suggestive of current progression of the disease. There was, however, no relation between heart scintigraphy and the affliction of the skeletal muscles expressed by means of an index.

  10. New Frontiers in the Treatment of Spinal Muscular Atrophy

    LENUS (Irish Health Repository)

    Power, CL

    2018-03-01

    Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, with a current estimated incidence of 1 in 11,000 live births. Although there is a variable phenotype, 60% of patients with SMA have type 1 disease. Typically diagnosed by the age of six months, this severe form of the condition is characterised by progressive weakness and the failure to meet motor milestones. There is an early need for permanent assisted ventilation, without which the median life expectancy is less than two years.\\r\

  11. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy.

    Science.gov (United States)

    Raaphorst, Joost; van Tol, Marie-José; Groot, Paul F C; Altena, Ellemarije; van der Werf, Ysbrand D; Majoie, Charles B; van der Kooi, Anneke J; van den Berg, Leonard H; Schmand, Ben; de Visser, Marianne; Veltman, Dick J

    2014-08-26

    To examine brain activation patterns during verbal fluency performance in patients with progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS). fMRI was used to examine the blood oxygen level-dependent response during letter and category fluency performance in 18 patients with PMA, 21 patients with ALS, and 17 healthy control subjects, matched for age and education. fMRI results are reported at pfrontal gyrus (IFG, Brodmann area 45) during letter fluency, which was unaffected by performance, ARWMC, and IFG volume: patients with PMA showed lower activation than controls but higher than that of patients with ALS (ALSupper motor neuron signs. © 2014 American Academy of Neurology.

  12. Roturas tendinosas y musculares en el hombro del deportista

    OpenAIRE

    Sanchis, V.; Gastaldi Orquín, Enrique; Ferrando, F.; Diago, T.; Deltoro López, A.

    1991-01-01

    El complejo articular del hombro está sometido a solicitaciones mecánicas en la mayoría de las modalidades deportivas; así el 10-15% de los traumatismos sufridos por los atletas afectan a esta articulación (1). La "patología reina" del hombro del deportista es la inestabilidad, por su frecuencia, importantes implicaciones funcionales y tratamiento problemático. Por el contrario, las roturas musculares y tendinosas del hombro son lesiones poco frecuentes en el dep...

  13. Calcium influx determines the muscular response to electrotransfer

    DEFF Research Database (Denmark)

    Møller, Pernille Højman; Brolin, Camilla; Gissel, Hanne

    2012-01-01

    expression analyses and histology, we showed a clear association between Ca(2+) influx and muscular response. Moderate Ca(2+) influx induced by HVLV pulses results in activation of pathways involved in immediate repair and hypertrophy. This response could be attenuated by intramuscular injection of EGTA...... low-voltage pulse (HVLV), either alone or in combination with injection of DNA. Mice and rats were anesthetized before pulsing. At the times given, animals were killed, and intact tibialis cranialis muscles were excised for analysis. Uptake of Ca(2+) was assessed using (45)Ca as a tracer. Using gene...

  14. Rendimiento deportivo: glucógeno muscular y consumo proteico

    OpenAIRE

    Pérez-Guisado, Joaquín

    2008-01-01

    Para conseguir un óptimo rendimiento deportivo mediante el control de parámetros relacionados directa o indirectamente con la ingesta, puede resultar de gran importancia conocer y saber controlar el entramado metabólico relacionado con el glucógeno muscular y la optimización del consumo proteico. La recuperación de las reservas de glucógeno tras la realización del ejercicio físico es un proceso lento que puede llevar de 24 a 48 h según las pérdidas producidas. La velocidad de resíntesis del g...

  15. Functional muscle ischemia in Duchenne and Becker muscular dystrophy

    OpenAIRE

    Thomas, Gail D.

    2013-01-01

    Duchenne and Becker muscular dystrophy (DMD/BMD) comprise a spectrum of devastating X-linked muscle wasting disease for which there is no treatment. DMD/BMD is caused by mutations in the gene encoding dystrophin, a cytoskeletal protein that stabilizes the muscle membrane and also targets other proteins to the sarcolemma. Among these is the muscle-specific isoform of neuronal nitric oxide synthase (nNOSµ) which binds spectrin-like repeats within dystrophin’s rod domain and the adaptor pro...

  16. Respiratory care management information systems.

    Science.gov (United States)

    Ford, Richard M

    2004-04-01

    Hospital-wide computerized information systems evolved from the need to capture patient information and perform billing and other financial functions. These systems, however, have fallen short of meeting the needs of respiratory care departments regarding work load assessment, productivity management, and the level of outcome reporting required to support programs such as patient-driven protocols. The respiratory care management information systems (RCMIS) of today offer many advantages over paper-based systems and hospital-wide computer systems. RCMIS are designed to facilitate functions specific to respiratory care, including assessing work demand, assigning and tracking resources, charting, billing, and reporting results. RCMIS incorporate mobile, point-of-care charting and are highly configurable to meet the specific needs of individual respiratory care departments. Important and substantial benefits can be realized with an RCMIS and mobile, wireless charting devices. The initial and ongoing costs of an RCMIS are justified by increased charge capture and reduced costs, by way of improved productivity and efficiency. It is not unusual to recover the total cost of an RCMIS within the first year of its operation. In addition, such systems can facilitate and monitor patient-care protocols and help to efficiently manage the vast amounts of information encountered during the practitioner's workday. Respiratory care departments that invest in RCMIS have an advantage in the provision of quality care and in reducing expenses. A centralized respiratory therapy department with an RCMIS is the most efficient and cost-effective way to monitor work demand and manage the hospital-wide allocation of respiratory care services.

  17. Estudio clínico, genético y molecular en un paciente con atrofia muscular espinal

    Directory of Open Access Journals (Sweden)

    Ibis Menéndez Alejo

    1998-03-01

    Full Text Available Las atrofias musculares espinales (AME infantiles son enfermedades neuromusculares hereditarias caracterizadas por la degeneración de las motoneuronas alfa del asta anterior de la médula espinal. La enfermedad de Werdnig-Hoffmann, AME tipo I, es la forma más grave, se transmite como un carácter autosómico recesivo y los afectados suelen fallecer durante el primer año de vida por fallo respiratorio. En este trabajo se presenta una familia cubana con 2 hijos con AME tipo I, en la cual el estudio molecular en uno de ellos permitió identificar los 2 cromosomas parentales asociados con ésta. Se encontró además en el paciente una deleción de ambas copias del gen SMN (exón 8 y del gen NAIP (exón 5. Los hallazgos ilustran la utilidad de estos estudios, con vistas a posibilitar el diagnóstico prenatal de la enfermedad.The infantile spinal muscular atrophies (SMA are hereditary neuromuscular diseases characterized by degenerated Alfa-motoneurons of the anterior spinal marrow horn. Werdning-Hoffman disease, Type 1 SMA, is the most serious affection being transmitted as an autosomal recessive character, so those affected may die from respiratory failures in the first year of life. This paper presents a Cuban family with two kids who suffer from Type-1 SMA; the molecular analysis carried out in one of them identified two parental chromosomes responsible for the disease. Also, a deletion of both copies of SMN gene (exon 8 and NAIP gene (exon 5 were discovered in this patient. These findings showed the usefulness of this kind of studies with a view to making a prenatal diagnosis of Werdning-Hoffman disease.

  18. Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

    Science.gov (United States)

    Papa, Riccardo; Madia, Francesca; Bartolomeo, Domenico; Trucco, Federica; Pedemonte, Marina; Traverso, Monica; Broda, Paolo; Bruno, Claudio; Zara, Federico; Minetti, Carlo; Fiorillo, Chiara

    2016-02-01

    Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during childhood are poorly known. We describe a cohort of pediatric DMD carriers, providing clinical, genetic, and histopathologic features, with a mean follow-up of 7 years. Fifteen females with a DMD mutation (age range 5 to 18 years) were included. Seven patients (46%) presented with clinically evident symptoms and signs such as limb girdle weakness, abnormal gait, and exercise intolerance. The other eight patients (53%) were evaluated because of an incidental finding of elevated level of creatine kinase. Creatine kinase level was elevated in all, ranging from 392 to 13,000 U/L. Calf hypertrophy was observed in eight patients (53%). No patient developed respiratory or cardiac involvement. The most frequent complication was scoliosis (46%). Four patients (29%) also presented minor learning disabilities or behavioral problems. We performed electromyography in half of patients, showing myopathic pattern in four (53%). Muscle biopsy revealed a mosaic reduction of dystrophin in nine available cases. DMD gene mutations were mostly deletions (71%), resulting in loss of reading frame in five patients (36%). The three patients who experienced the most severe disease course were affected either by a nonsense or frameshift mutation. Our analysis suggests that DMD gene mutations may be suspected in a female child with persistently elevated levels of creatine kinase. Evidence of scoliosis, calf hypertrophy, or myopathic pattern at electromyography may also be helpful, and muscle biopsy is always indicative. DMD carriers should be followed for subtle orthopedic and psychiatric complications during childhood. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. The natural history of cardiac and pulmonary function decline in patients with duchenne muscular dystrophy.

    Science.gov (United States)

    Roberto, Rolando; Fritz, Anto; Hagar, Yolanda; Boice, Braden; Skalsky, Andrew; Hwang, Hosun; Beckett, Laurel; McDonald, Craig; Gupta, Munish

    2011-07-01

    Retrospective review of scoliosis progression, pulmonary and cardiac function in a series of patients with Duchenne Muscular Dystrophy (DMD). To determine whether operative treatment of scoliosis decreases the rate of pulmonary function loss in patients with DMD. It is generally accepted that surgical intervention should be undertaken in DMD scoliosis once curve sizes reach 35° to allow intervention before critical respiratory decline has occurred. There are conflicting reports, however, regarding the effect of scoliosis stabilization on the rate of pulmonary function decline when compared to nonoperative cohorts. We reviewed spinal radiographs, echocardiograms, and spirometry, hospital, and operative records of all patients seen at our tertiary referral center from July 1, 1992 to June 1, 2007. Data were recorded to Microsoft Excel (Microsoft, Redmond, WA) and analyzed with SAS (SAS Institute, Cary, NC) and R statistical processing software (www.r-project.org). The percent predicted forced vital capacity (PPFVC) decreased 5% per year before operation. The mean PPFVC was 54% (SD = 21%) before operation with a mean postoperative PPFVC of 43% (SD = 14%). Surgical treatment was associated with a 12% decline in PPFVC independent of other treatment variables. PPFVC after operation declined at a rate of 1% per year and while this rate was lower, it was not significantly different than the rate of decline present before operation (P = 0.18). Cardiac function as measured by left ventricular fractional shortening declined at a rate of 1% per year with most individuals exhibiting a left ventricular fractional shortening rate of more than 30 before operation. Operative treatment of scoliosis in DMD using the Luque Galveston method was associated with a reduction of forced vital capacity related to operation. The rate of pulmonary function decline after operation was not significantly reduced when compared with the rate of preoperative forced vital capacity decline.

  20. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

    Science.gov (United States)

    Goemans, Nathalie; Lowes, Linda P.; Alfano, Lindsay N.; Berry, Katherine; Shao, James; Kaye, Edward M.; Mercuri, Eugenio; Hamid, Hoda Abdel; Byrne, Barry J.; Connolly, Anne M.; Dracker, Robert A.; Matthew Frank, L.; Heydemann, Peter T.; O'Brien, Kevin C.; Sparks, Susan E.; Specht, Linda A.; Rodino‐Klapac, Louise; Sahenk, Zarife; Al‐Zaidy, Samiah; Cripe, Linda H.; Lewis, Sarah; M, Pane; E, Mazzone; S, Messina; GL, Vita; Bertini, D Amico A; Casimiro, Berardinelli A; Y, Torrente; F, Magri; GP, Comi; G, Baranello; T, Mongini; A, Pini; R, Battini; E, Pegoraro; C, Bruno; L, Politano; S, Previtali

    2016-01-01

    Objective To continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in patients with Duchenne muscular dystrophy (DMD). Three‐year progression of eteplirsen‐treated patients was compared to matched historical controls (HC). Methods Ambulatory DMD patients who were ≥7 years old and amenable to exon 51 skipping were randomized to eteplirsen (30/50mg/kg) or placebo for 24 weeks. Thereafter, all received eteplirsen on an open‐label basis. The primary functional assessment in this study was the 6‐Minute Walk Test (6MWT). Respiratory muscle function was assessed by pulmonary function testing (PFT). Longitudinal natural history data were used for comparative analysis of 6MWT performance at baseline and months 12, 24, and 36. Patients were matched to the eteplirsen group based on age, corticosteroid use, and genotype. Results At 36 months, eteplirsen‐treated patients (n = 12) demonstrated a statistically significant advantage of 151m (p < 0.01) on 6MWT and experienced a lower incidence of loss of ambulation in comparison to matched HC (n = 13) amenable to exon 51 skipping. PFT results remained relatively stable in eteplirsen‐treated patients. Eteplirsen was well tolerated. Analysis of HC confirmed the previously observed change in disease trajectory at age 7 years, and more severe progression was observed in patients with mutations amenable to exon skipping than in those not amenable. The subset of patients amenable to exon 51 skipping showed a more severe disease course than those amenable to any exon skipping. Interpretation Over 3 years of follow‐up, eteplirsen‐treated patients showed a slower rate of decline in ambulation assessed by 6MWT compared to untreated matched HC. Ann Neurol 2016;79:257–271 PMID:26573217

  1. Associations between timing of corticosteroid treatment initiation and clinical outcomes in Duchenne muscular dystrophy.

    Science.gov (United States)

    Kim, Sunkyung; Zhu, Yong; Romitti, Paul A; Fox, Deborah J; Sheehan, Daniel W; Valdez, Rodolfo; Matthews, Dennis; Barber, Brent J

    2017-08-01

    The long-term efficacy of corticosteroid treatment and timing of treatment initiation among Duchenne muscular dystrophy (DMD) patients is not well-understood. We used data from a longitudinal, population-based DMD surveillance program to examine associations between timing of treatment initiation (early childhood [before or at age 5 years], late childhood [after age 5 years], and naïve [not treated]) and five clinical outcomes (age at loss of ambulation; ages at onset of cardiomyopathy, scoliosis, and first fracture; and pulmonary function). Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated using survival analysis. DMD patients who initiated corticosteroid treatment in early childhood had a higher risk of earlier onset cardiomyopathy compared to cases who initiated treatment in late childhood (HR = 2.0, 95% CI = [1.2, 3.4]) or treatment naïve patients (HR = 1.9, 95% CI = [1.1, 3.2]), and higher risk of suffering a fracture (HR = 2.3, 95% CI = [1.4, 3.7] and HR = 2.6, 95% CI = [1.6, 4.2], respectively). Patients with early childhood treatment had slightly decreased respiratory function compared with those with late childhood treatment. Ages at loss of ambulation or scoliosis diagnosis did not differ statistically among treatment groups. We caution that the results from our study are subject to several limitations, as they were based on data abstracted from medical records. Further investigations using improved reporting of disease onset and outcomes are warranted to obtain a more definitive assessment of the association between the timing of corticosteroid treatment and disease severity. Published by Elsevier B.V.

  2. A comprehensive database of Duchenne and Becker muscular dystrophy patients in Children's Hospital of Fudan University

    Directory of Open Access Journals (Sweden)

    Xi-hua LI

    2015-05-01

    Full Text Available Background China is one of the countries that have the largest number of patients suffering from Duchenne and Becker muscular dystrophy (DMD/BMD. Although the building of international DMD/BMD databases has laid a foundation for clinical drug development and clinical trials, it has not yet been carried out in China. In this study, a modified registry form of Remudy was applied to 229 DMD/BMD patients in order to establish a comprehensive database, which will lay the groundwork for international cooperation.  Methods A total of 229 DMD/BMD patients diagnosed by genetic testing or muscle biopsy admitted in Children's Hospital of Fudan University (CHFU during the period of August 2011 to December 2013 were enrolled in this study. The data included sex, age, age at diagnosis, geographic distribution of patients, DMD gene mutation types, family history, walking capability, cardiac and respiratory function, steroid treatment and rehabilitation intervention.  Results There were 194 DMD and 35 BMD male patients who were diagnosed at the age of 0-18 years, and among them, most patients were diagnosed at the age of > 3-4 (16.59%, 38/229 and > 7-8 (14.85%, 34/229 years. Exon deletion was the most frequent genetic mutations for DMD/BMD [65.46% (127/194 and 74.29% (26/35], respectively. Patients with a family history accounted for 23.14% (53/229. The rate of DMD registrants losing walking capability was 17.53% (34/194, and all the BMD registrants were able to walk. Cardiac functions were examined in 46.29% (106/229 DMD/BMD boys and respiratory functions were examined in 17.90% (41/229 DMD/BMD boys. The proportion of DMD patients receiving prednisone with dosage of 0.75 mg/(kg·d was 26.29% (51/194.  Conclusions This database describes in detail the genotype, clinical manifestation, diagnosis and treatment and rehabilitation status of 229 DMD/BMD patients in China. The database not only provides comprehensive information for DMD/BMD patient management

  3. Cardiac involvement in Beagle-based canine X-linked muscular dystrophy in Japan (CXMDJ: electrocardiographic, echocardiographic, and morphologic studies

    Directory of Open Access Journals (Sweden)

    Machida Noboru

    2006-12-01

    Full Text Available Abstract Background Cardiac mortality in Duchenne muscular dystrophy (DMD has recently become important, because risk of respiratory failure has been reduced due to widespread use of the respirator. The cardiac involvement is characterized by distinctive electrocardiographic abnormalities or dilated cardiomyopathy, but the pathogenesis has remained obscure. In research on DMD, Golden retriever-based muscular dystrophy (GRMD has attracted much attention as an animal model because it resembles DMD, but GRMD is very difficult to maintain because of their severe phenotypes. We therefore established a line of dogs with Beagle-based canine X-linked muscular dystrophy in Japan (CXMDJ and examined the cardiac involvement. Methods The cardiac phenotypes of eight CXMDJ and four normal male dogs 2 to 21 months of age were evaluated using electrocardiography, echocardiography, and histopathological examinations. Results Increases in the heart rate and decreases in PQ interval compared to a normal littermate were detected in two littermate CXMDJ dogs at 15 months of age or older. Distinct deep Q-waves and increase in Q/R ratios in leads II, III, and aVF were detected by 6–7 months of age in all CXMDJ dogs. In the echocardiogram, one of eight of CXMDJ dogs showed a hyperechoic lesion in the left ventricular posterior wall at 5 months of age, but the rest had not by 6–7 months of age. The left ventricular function in the echocardiogram indicated no abnormality in all CXMDJ dogs by 6–7 months of age. Histopathology revealed myocardial fibrosis, especially in the left ventricular posterobasal wall, in three of eight CXMDJ dogs by 21 months of age. Conclusion Cardiac involvement in CXMDJ dogs is milder and has slower progression than that described in GRMD dogs. The distinct deep Q-waves have been ascribed to myocardial fibrosis in the posterobasal region of the left ventricle, but our data showed that they precede the lesion on echocardiogram and

  4. Muscle MRI and functional outcome measures in Becker muscular dystrophy.

    Science.gov (United States)

    Barp, Andrea; Bello, Luca; Caumo, Luca; Campadello, Paola; Semplicini, Claudio; Lazzarotto, Annalisa; Sorarù, Gianni; Calore, Chiara; Rampado, Alessandro; Motta, Raffaella; Stramare, Roberto; Pegoraro, Elena

    2017-11-22

    Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease progression in dystrophinopathies. Correlation with clinically meaningful outcome measures such as North Star Ambulatory Assessment (NSAA) and 6 minute walk test (6MWT) is paramount for biomarker qualification. In this study, 51 molecularly confirmed BMD patients (aged 7-69 years) underwent muscle MRI and were evaluated with functional measures (NSAA and 6MWT) at the time of the MRI, and subsequently after one year. We confirmed a pattern of fatty substitution involving mainly the hip extensors and most thigh muscles. Severity of muscle fatty substitution was significantly correlated with specific DMD mutations: in particular, patients with an isolated deletion of exon 48, or deletions bordering exon 51, showed milder involvement. Fat infiltration scores correlated with baseline functional measures, and predicted changes after 1 year. We conclude that in BMD, skeletal muscle MRI not only strongly correlates with motor function, but also helps in predicting functional deterioration within a 12-month time frame.

  5. Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children

    Directory of Open Access Journals (Sweden)

    Umida T. Omonova

    2013-12-01

    Full Text Available Duchenne Muscular Dystrophy (DMD is a severe, progressive disease that affects about 1 out of every 5,000 male infants; this is the most destructive of all muscular dystrophies, which worsens rapidly. In this study, we performed a clinical analysis of 37 children with DMD. They ranged in age from 3 to 15 years, mean age being 7.8±0.48 years. The mean age at onset was 4.3±0.36 years and ranged from birth to 8 years. The biochemical examination included the determination of the serum levels of the following enzymes, AST, ALT, CPK-MM, and LDH. A genealogical analysis was conducted among 240 first-degree relatives of children with DMD. Electroneuromyography examination included registration of the biopotentials of the hand and foot muscles, measurement of the muscle response (M-wave and the late-evoked responses. The clinical-diagnostic features of DMD in children were characterized.

  6. Dystrophin in frameshift deletion patients with Becker Muscular Dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gangopadhyay, S.B.; Ray, P.N.; Worton, R.G.; Sherratt, T.G.; Heckmatt, J.Z.; Dubowitz, V.; Strong, P.N.; Miller, G. (Penn State College of Medicine, Hershey, PA (United States)); Shokeir, M. (Univ. Hospital, Saskatchewan (Canada))

    1992-09-01

    In a previous study the authors identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. They have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases they detected slightly lower-molecular-weight dystrophin in 12%-15% abundance relative to the normal. By sequencing amplified mRNA they have found that exon 2 is spliced to exon 8, a splice that produces a frameshifted mRNA, and have found no evidence for alternate splicing that might be involved in restoration of dystrophin mRNA reading frame in the patients with a mild phenotype. Other transcriptional and posttranscriptional mechanisms such as cryptic promoter, ribosomal frameshifting, and reinitiation are suggested that might play some role in restoring the reading frame. 34 refs., 5 figs. 1 tab.

  7. Fibromyalgia syndrome and temporomandibular disorders with muscular pain. A review.

    Science.gov (United States)

    Moreno-Fernández, Ana Maria; Jiménez-Castellanos, Emilio; Iglesias-Linares, Alejandro; Bueso-Madrid, Débora; Fernández-Rodríguez, Ana; de Miguel, Manuel

    2017-03-01

    Temporomandibular disorders (TMD) refer to a group of clinical picture affecting the masticatory muscles and temporomandibular joint that are characterized by muscular or joint pain, dysfunction (limited or altered functions) and joint noises, as well as other associated symptoms, such as tension headaches, otalgia, dizziness, tinnitus, and others. Fibromyalgia (FM) is a syndrome of unknown etiology involving generalized chronic pain accompanied, in a high percentage of cases, by other symptoms such as asthenia, anxiety, depression, sleep disturbances, and other less frequent symptoms, such as temporomandibular disorders (TMD). Data were compiled by two experienced examiners following a specific form. An electronic search was carried out in the Cochrane Central Register of Controlled Trials (CENTRAL), PUBMED, and SCOPUS electronic databases (up to April 2016, unrestricted by date or language). Comparative clinical studies with patients with both clinical pictures involving the study of pathogenic processes. Fibromyalgia and temporomandibular disorders with muscle pain both have profiles that affect the muscular system and therefore share many epidemiological, clinical, and physiopathological symptoms. Because of this, we are led to think that there is, if not a common etiology, at least a common pathogenesis. This article revises the physiopathological processes of both clinical pictures in an attempt to determine their similarities and likenesses. This would undoubtedly help in providing a better therapeutic approach.

  8. Reassessing the improbability of a muscular crinoid stem

    Science.gov (United States)

    Gorzelak, Przemysław; Głuchowski, Edward; Salamon, Mariusz A.

    2014-08-01

    Muscular articulations in modern stalked crinoids are only present in the arms. Although it has been suggested that certain coiled-stemmed fossil taxa may have been functionally adapted to utilize muscles, evidence supporting this interpretation is lacking. Here, we use cathodoluminescence and SEM to reveal the skeletal microstructure of the enigmatic coiled-stemmed taxon Ammonicrinus (Flexibilia). Based on the well-established link between skeletal microstructure and the nature of infilling soft tissues in modern echinoderms, we reconstructed the palaeoanatomy of the Middle Devonian ammonicrinids. We show that their median columnals with elongated lateral columnal enclosure extensions (LCEE) have stereom microstructure unexpectedly resembling that in the crinoid muscular arm plates. In particular, large ligamentary facets, that are present on each side of a transverse ridge, are mainly comprised of fine galleried stereom that is indicative of the mutable collagenous tissues. In contrast, fine labyrinthic stereom, commonly associated with muscles, is situated in the periphery on each side of the surface of elongated LCEE. Our findings thus strongly suggest that the muscles may have also been present in the stem of ammonicrinids. These results reassess the previous hypotheses about evolution of muscles in crinoids and provide new insights into the mode of life of Ammonicrinus.

  9. Mechanisms and assessment of statin-related muscular adverse effects

    Science.gov (United States)

    Moßhammer, Dirk; Schaeffeler, Elke; Schwab, Matthias; Mörike, Klaus

    2014-01-01

    Statin-associated muscular adverse effects cover a wide range of symptoms, including asymptomatic increase of creatine kinase serum activity and life-threatening rhabdomyolysis. Different underlying pathomechanisms have been proposed. However, a unifying concept of the pathogenesis of statin-related muscular adverse effects has not emerged so far. In this review, we attempt to categorize these mechanisms along three levels. Firstly, among pharmacokinetic factors, it has been shown for some statins that inhibition of cytochrome P450-mediated hepatic biotransformation and hepatic uptake by transporter proteins contribute to an increase of systemic statin concentrations. Secondly, at the myocyte membrane level, cell membrane uptake transporters affect intracellular statin concentrations. Thirdly, at the intracellular level, inhibition of the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase results in decreased intracellular concentrations of downstream metabolites (e.g. selenoproteins, ubiquinone, cholesterol) and alteration of gene expression (e.g. ryanodine receptor 3, glycine amidinotransferase). We also review current recommendations for prescribers. PMID:25069381

  10. Muscular condition monitoring system using fiber bragg grating sensors

    International Nuclear Information System (INIS)

    Kim, Heon Young; Lee, Jin Hyuk; Kim, Dae Hyun

    2014-01-01

    Fiber optic sensors (FOS) have advantages such as electromagnetic interference (EMI) immunity, corrosion resistance and multiplexing capability. For these reasons, they are widely used in various condition monitoring systems (CMS). This study investigated a muscular condition monitoring system using fiber optic sensors (FOS). Generally, sensors for monitoring the condition of the human body are based on electro-magnetic devices. However, such an electrical system has several weaknesses, including the potential for electro-magnetic interference and distortion. Fiber Bragg grating (FBG) sensors overcome these weaknesses, along with simplifying the devices and increasing user convenience. To measure the level of muscle contraction and relaxation, which indicates the muscle condition, a belt-shaped FBG sensor module that makes it possible to monitor the movement of muscles in the radial and circumferential directions was fabricated in this study. In addition, a uniaxial tensile test was carried out in order to evaluate the applicability of this FBG sensor module. Based on the experimental results, a relationship was observed between the tensile stress and Bragg wavelength of the FBG sensors, which revealed the possibility of fabricating a muscular condition monitoring system based on FBG sensors.

  11. Muscular condition monitoring system using fiber bragg grating sensors

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Heon Young; Lee, Jin Hyuk; Kim, Dae Hyun [Seoul National University of Technology, Seoul (Korea, Republic of)

    2014-10-15

    Fiber optic sensors (FOS) have advantages such as electromagnetic interference (EMI) immunity, corrosion resistance and multiplexing capability. For these reasons, they are widely used in various condition monitoring systems (CMS). This study investigated a muscular condition monitoring system using fiber optic sensors (FOS). Generally, sensors for monitoring the condition of the human body are based on electro-magnetic devices. However, such an electrical system has several weaknesses, including the potential for electro-magnetic interference and distortion. Fiber Bragg grating (FBG) sensors overcome these weaknesses, along with simplifying the devices and increasing user convenience. To measure the level of muscle contraction and relaxation, which indicates the muscle condition, a belt-shaped FBG sensor module that makes it possible to monitor the movement of muscles in the radial and circumferential directions was fabricated in this study. In addition, a uniaxial tensile test was carried out in order to evaluate the applicability of this FBG sensor module. Based on the experimental results, a relationship was observed between the tensile stress and Bragg wavelength of the FBG sensors, which revealed the possibility of fabricating a muscular condition monitoring system based on FBG sensors.

  12. [Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].

    Science.gov (United States)

    Ishigaki, Keiko

    2016-02-01

    Fukuyama congenital muscular dystrophy (FCMD), the second most common muscular dystrophy in the Japanese population, is an autosomal recessive disorder caused by mutations in the fukutin (FKTN) gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with mental retardation and seizures associated with cortical migration defects. The FKTN gene product is thought to be necessary for maintaining migrating neurons in an immature state during migration, and for supporting migration via α-dystroglycan in the central nervous system. Typical magnetic resonance imaging findings in FCMD patients are cobblestone lissencephaly and cerebellar cystic lesions. White matter abnormalities with hyperintensity on T(2)-weighted images are seen especially in younger patients and those with severe phenotypes. Most FCMD patients are mentally retarded and the level is moderate to severe, with IQs ranging from 30 to 50. In our recent study, 62% of patients developed seizures. Among them, 71% had only febrile seizures, 6% had afebrile seizures from the onset, and 22% developed afebrile seizures following febrile seizures. Most patients had seizures that were controllable with just 1 type of antiepileptic drug, but 18% had intractable seizures that must be treated with 3 medications.

  13. The muscular expression of RAS in patients with achalasia.

    Science.gov (United States)

    Casselbrant, A; Kostic, S; Lönroth, H

    2015-09-01

    Angiotensin II (AngII) elicits smooth muscle contractions via activation of AngII type 1 receptor (AT1R) in the intestinal wall and in sphincter regions in several species. Achalasia is a rare swallowing disorder and is characterized by a loss of the wave-like contraction that forces food through the oesophagus and a failure of the lower oesophageal sphincter to relax during swallowing. The present study was undertaken to elucidate expression and distribution of a local renin-angiotensin system (RAS) in the muscular layer of distal normal human oesophagus as well as in patients with achalasia using western blot analysis, immunohistochemistry and polymerase chain reaction (PCR). AT1R, together with enzyme renin and cathepsin D expression were decreased in patients with achalasia. In contrast, the mast cells chymase, cathepsin G, neprilysin and the receptor for angiotensin 1-7 peptides, the MAS receptor, were increased in patients with achalasia. The results showed the existence of a local RAS in human oesophageal muscular layer. The enzymes responsible for AngII production are different and there has been a shift in receptor physiology from AT1R to MAS receptor in patients with achalasia. These changes in the RAS might play a significant role in the physiological motor control for patients with achalasia. © The Author(s) 2014.

  14. Motor assessment in patients with Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Gabriela Palhares Campolina Diniz

    2012-06-01

    Full Text Available OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC, and application of the Motor Function Measure (MFM. The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04. In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006. Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

  15. Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Witting, Nanna; Kruuse, Christina; Nyhuus, Bo

    2014-01-01

    OBJECTIVE: Patients with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy lack neuronal nitric oxide synthase (nNOS). nNOS mediates physiological sympatholysis, thus ensuring adequate blood supply to working muscle. In mice lacking dystrophin, restoration of nNOS effects...

  16. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    van Westrum, S. M. Schade; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.

    Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated

  17. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Schade van Westrum, S. M.; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.

    2011-01-01

    Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated

  18. A Cross-Sectional Study of School Experiences of Boys with Duchenne and Becker Muscular Dystrophy

    Science.gov (United States)

    Soim, Aida; Lamb, Molly; Campbell, Kimberly; Pandya, Shree; Peay, Holly; Howard, James F., Jr.; Fox, Deborah

    2016-01-01

    The objectives of this study were to investigate types of supportive school services received and factors related to provision of these services. We conducted a cross-sectional study to describe the school experience of males with Duchenne and Becker muscular dystrophies. Study subjects were identified through the Muscular Dystrophy Surveillance,…

  19. Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I

    DEFF Research Database (Denmark)

    Løkken, Nicoline; Hedermann, Gitte; Thomsen, Carsten

    2016-01-01

    We investigated whether a linear relationship between muscle strength and cross-sectional area (CSA) is preserved in calf muscles of patients with Becker muscular dystrophy (BMD, n = 14) and limb-girdle type 2I muscular dystrophy (LGMD2I, n = 11), before and after correcting for muscle fat...

  20. Some Dynamics of Personality Development in Boys Suffering from Muscular Dystrophy

    Science.gov (United States)

    Mearig, Judith S.

    1973-01-01

    Discussed are personality aspects of Duchenne or pseudohypertrophic muscular dystrophy, a progressive wasting of muscular tissue, which afflicts only boys, and usually has its noticeable onset before the age of 6 years; and described is the development of three male dystrophic siblings. (DB)

  1. Investigation of Poor Academic Achievement in Children with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Hinton, V. J.; De Vivo, D. C.; Fee, R.; Goldstein, E.; Stern, Y.

    2004-01-01

    Duchenne Muscular Dystrophy (DMD) is a neurogenetic developmental disorder that presents with progressive muscular weakness. It is caused by a mutation in a gene that results in the absence of specific products that normally localize to muscle cells and the central nervous system (CNS). The majority of affected individuals have IQs within the…

  2. Meeting the Assistive Technology Needs of Students with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Heller, Kathryn Wolff; Mezei, Peter J.; Avant, Mary Jane Thompson

    2009-01-01

    Students with Duchenne muscular dystrophy (DMD) have a degenerative disease that requires ongoing changes in assistive technology (AT). The AT team needs to be knowledgeable about the disease and its progression in order to meet these students' changing needs in a timely manner. The unique needs of students with Duchenne muscular dystrophy in…

  3. Quality of life of adult men with Duchenne muscular dystrophy in the Netherlands : Implications for care

    NARCIS (Netherlands)

    Pangalila, Robert F.; Van Den Bos, Geertrudis A M; Bartels, Bart; Bergen, Michael P.; Kampelmacher, Mike J.; Stam, Henk J.; Roebroeck, Marij E.

    2015-01-01

    Objective: To assess quality of life of adults with Duchenne muscular dystrophy in the Netherlands and to identify domains and major problems influencing quality of life. Design: Cross-sectional. Subjects: Seventy-nine men aged ≥ 20 years with Duchenne muscular dystrophy. Methods: The Medical

  4. Miyoshi-type distal muscular dystrophy - Clinical spectrum in 24 Dutch patients

    NARCIS (Netherlands)

    Linssen, WHJP; Notermans, NC; VanderGraaf, Y; Wokke, JHJ; VanDoorn, PA; Howeler, CJ; Busch, HFM; DeJager, AEJ; DeVisser, M

    1997-01-01

    Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings.

  5. X-rays computed tomographic scans of lower limb and trunk muscles in facioscapulohumeral muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Horikawa, Hirosei; Mano, Yukio; Takayanagi, Tetsuya [Nara Medical Univ., Kashihara (Japan); Takahashi, Keiichi; Nishio, Hisahide

    1992-10-01

    X-rays computed tomographic (CT) scans of muscles of the lower limbs and the trunk in 14 patients with facioscapulohumeral muscular dystrophy (FSH) were studied. The CT scans showed that the affected muscles were decreased in density and size. The laterality of muscular involvement was sometimes observed. The muscular lesions in the lower limbs showed proximal distribution. In the thigh, the hamstrings were affected first, the adductor muscles second, and then the muscular involvement progressed to the quadriceps femoris muscle. In the lower leg, the gastrocnemius and soleus muscles were relatively spared as compared with the tibialis anterior muscle. In the lumbar girdle, the abdominal muscles were involved first, the gluteal muscles second, the back muscles third, and the psoas major muscle were relatively spared. The muscular weakness of this distribution exacerbated lumbar lordosis. The neck muscles were less affected than those of the lumbar girdle. The CT scans in FSH demonstrated the characteristic pattern of muscular involvement, which differed from the inherited muscular diseases such as Duchenne muscular dystrophy, myotonic dystrophy, and others. (author).

  6. X-rays computed tomographic scans of lower limb and trunk muscles in facioscapulohumeral muscular dystrophy

    International Nuclear Information System (INIS)

    Horikawa, Hirosei; Mano, Yukio; Takayanagi, Tetsuya; Takahashi, Keiichi; Nishio, Hisahide.

    1992-01-01

    X-rays computed tomographic (CT) scans of muscles of the lower limbs and the trunk in 14 patients with facioscapulohumeral muscular dystrophy (FSH) were studied. The CT scans showed that the affected muscles were decreased in density and size. The laterality of muscular involvement was sometimes observed. The muscular lesions in the lower limbs showed proximal distribution. In the thigh, the hamstrings were affected first, the adductor muscles second, and then the muscular involvement progressed to the quadriceps femoris muscle. In the lower leg, the gastrocnemius and soleus muscles were relatively spared as compared with the tibialis anterior muscle. In the lumbar girdle, the abdominal muscles were involved first, the gluteal muscles second, the back muscles third, and the psoas major muscle were relatively spared. The muscular weakness of this distribution exacerbated lumbar lordosis. The neck muscles were less affected than those of the lumbar girdle. The CT scans in FSH demonstrated the characteristic pattern of muscular involvement, which differed from the inherited muscular diseases such as Duchenne muscular dystrophy, myotonic dystrophy, and others. (author)

  7. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

    NARCIS (Netherlands)

    Linssen, W. H.; Notermans, N. C.; van der Graaf, Y.; Wokke, J. H.; van Doorn, P. A.; Höweler, C. J.; Busch, H. F.; de Jager, A. E.; de Visser, M.

    1997-01-01

    Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings.

  8. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

    NARCIS (Netherlands)

    W.H.J.P. Linssen (Wim); N.C. Notermans (Nicolette); Y. van der Graaf (Yolanda); J.H.J. Wokke (John); P.A. van Doorn (Pieter); C.J. Höweler (Chris); H.F.M. Busch (Herman); A.E.J. de Jager (Aeiko); M. de Visser (Marianne)

    1997-01-01

    textabstractMiyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history muscle CT-scans and muscle biopsy

  9. [Muscular disorders associated with ankylosing spondylitis and their correction with the help of whole body cryotherapy].

    Science.gov (United States)

    Kulikov, A G; Tabiev, V I; Rassulova, M A

    2015-01-01

    The objective of the present study was to evaluate the possibilities for the correction of muscular disorders associated with ankylosing spondylitis and their correction with the help of whole body cryotherapy. The study included 55 patients randomly allocated to two groups. Group 1 was comprised of the patients treated with the use of the common mineral baths, physiotherapy, therapeutic physical exercises, spinal massage, and whole body air-cryotherapy. Group 2 contained the patients who were treated in a similar way with the exception of whole body cryotherapy; they served as controls. Muscular disorders were diagnosed by means of functional muscular testing. The study has demonstrated the high prevalence of muscular disorders in the patients suffering from ankylosing spondylitis. Moreover, it revealed the profile of such disorders associated with ankylosing spondylitis and showed significant correlation between the results of functional muscular testing, BASMI and BASFI indices as well as characteristics of chest excursions (pcryotherapy in comparison with the alternative therapeutic modalities employed in the present study. This therapeutic modality ensured the statistically more pronounced improvement of functional muscular testing parameters (pcryotherapy accounting for its corrective influence on the muscular disorders in the patients presenting with ankylosing spondylitis. It is concluded that the proposed approach can be recommended for the introduction in the combined therapeutic and rehabilitative treatment of muscular disorders associated with ankylosing spondylitis.

  10. Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves

    NARCIS (Netherlands)

    Groen, R J; Sie, O G; van Weerden, T W

    The clinical, electrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from

  11. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

    DEFF Research Database (Denmark)

    Gavassini, Bruno F; Carboni, Nicola; Nielsen, Jørgen E

    2011-01-01

    In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations.......In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations....

  12. Associations between aerobic and muscular fitness and cardiovascular disease risk : the northern Ireland young hearts study

    NARCIS (Netherlands)

    Hoekstra, T.; Boreham, Colin A; Murray, Liam J; Twisk, Jos W R

    2008-01-01

    BACKGROUND: It is not clear what the relative contribution is of specific components of physical fitness (aerobic and muscular) to cardiovascular disease (CVD) risk. We investigated associations between aerobic fitness (endurance) and muscular fitness (power) and CVD risk factors. METHODS: Data were

  13. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, A. J.; Bonne, G.; Eymard, B.; Duboc, D.; Talim, B.; van der Valk, M.; Reiss, P.; Richard, P.; Demay, L.; Merlini, L.; Schwartz, K.; Busch, H. F. M.; de Visser, M.

    2002-01-01

    Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy

  14. A case report of cardia cancer complicated with idiopathic muscular hypertrophy of the oesophagus treated with thoracoscopic surgery.

    Science.gov (United States)

    Ren, Jun; Hao, Yingtao; Peng, Chuanliang

    2018-01-01

    The incidence of idiopathic muscular hypertrophy of oesophagus (IMHE) is low, and cancer with IMHE, showing significant hypertrophy of muscular layer of middle part of the oesophagus and successfully treated with minimally invasive thoracoscopic surgery.

  15. [Respiratory treatments in neuromuscular disease].

    Science.gov (United States)

    Martínez Carrasco, C; Cols Roig, M; Salcedo Posadas, A; Sardon Prado, O; Asensio de la Cruz, O; Torrent Vernetta, A

    2014-10-01

    In a previous article, a review was presented of the respiratory pathophysiology of the patient with neuromuscular disease, as well as their clinical evaluation and the major complications causing pulmonary deterioration. This article presents the respiratory treatments required to preserve lung function in neuromuscular disease as long as possible, as well as in special situations (respiratory infections, spinal curvature surgery, etc.). Special emphasis is made on the use of non-invasive ventilation, which is changing the natural history of many of these diseases. The increase in survival and life expectancy of these children means that they can continue their clinical care in adult units. The transition from pediatric care must be an active, timely and progressive process. It may be slightly stressful for the patient before the adaptation to this new environment, with multidisciplinary care always being maintained. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  16. Biological, Psychological, and Sociocultural Factors Contributing to the Drive for Muscularity in Weight-Training Men

    Science.gov (United States)

    Schneider, Catharina; Rollitz, Laura; Voracek, Martin; Hennig-Fast, Kristina

    2016-01-01

    The drive for muscularity and associated behaviors (e.g., exercising and dieting) are of growing importance for men in Western societies. In its extreme form, it can lead to body image concerns and harmful behaviors like over-exercising and the misuse of performance-enhancing substances. Therefore, investigating factors associated with the drive for muscularity, especially in vulnerable populations like bodybuilders and weight trainers can help identify potential risk and protective factors for body image problems. Using a biopsychosocial framework, the aim of the current study was to explore different factors associated with drive for muscularity in weight-training men. To this purpose, German-speaking male weight trainers (N = 248) completed an online survey to determine the extent to which biological, psychological, and sociocultural factors contribute to drive for muscularity and its related attitudes and behaviors. Using multiple regression models, findings showed that media ideal body internalization was the strongest positive predictor for drive for muscularity, while age (M = 25.9, SD = 7.4) held the strongest negative association with drive for muscularity. Dissatisfaction with muscularity, but not with body fat, was related to drive for muscularity. The fat-free mass index, a quantification of the actual degree of muscularity of a person, significantly predicted drive for muscularity-related behavior but not attitudes. Body-related aspects of self-esteem, but not global self-esteem, were significant negative predictors of drive for muscularity. Since internalization of media body ideals presented the highest predictive value for drive for muscularity, these findings suggest that media body ideal internalizations may be a risk factor for body image concerns in men, leading, in its most extreme form to disordered eating or muscle dysmorphia. Future research should investigate the relations between drive for muscularity, age, body composition

  17. Influence of Manual Labor at Work on Muscular Fitness and Its Relationship With Work Performance.

    Science.gov (United States)

    Ryan, Eric D; Thompson, Brennan J; Sobolewski, Eric J

    2016-10-01

    The present study examined the influence of workplace manual labor on measures of muscular fitness, with a secondary aim to investigate the relationship between muscular fitness and work performance in blue-collar (BC) workers. Leg extension isokinetic strength at slow and fast velocities, hamstring and hip-flexor flexibility, and low back muscular endurance were examined in young and older BC workers and white-collar (WC) controls, while work performance was examined in the BC cohort. There were no differences in muscular fitness variables between BC and WC groups; however, the older men had lower low back muscular endurance (-43.0%) and strength at slow (-9.4%) and fast (-12.7%) velocities. Work performance was associated with strength at fast velocities (r = 0.633) in the older BC workers. Leg strength may influence work performance, with higher velocities becoming more important in older workers.

  18. X-ray diagnostic sign for the differentiation of neurogenic and primary muscular diseases

    International Nuclear Information System (INIS)

    Palvoelgyi, R.; Gallai, M.

    1981-01-01

    The authors give an account of X-ray examinations of the limb musculature of 70 patients suffering from neurogenic muscular diseases, 42 suffering from primary muscular diseases and 45 suffering from senile degeneration of the muscles. Different degree of damage to different parts of the same muscle could only been observed in one case of neurogenic atrophy (in the postpoliomyelitic states) and in two cases of senile degeneration, while it was found in 11 cases (20%) for the other muscular diseases. In the latter cases the more severe muscle damage, which could be demonstrated radiographically, was always found in the part of the muscle adjacent to a tendon. On the above reasons the authors consider that radiographically demonstrable partial or uneven damage to any particular muscle can be used as a new diagnostical information in distinguishing muscular diseases from neurogenic muscular atrophy. (orig.) [de

  19. Becker muscular dystrophy-like myopathy regarded as so-called "fatty muscular dystrophy" in a pig: a case report and its diagnostic method.

    Science.gov (United States)

    Horiuchi, Noriyuki; Aihara, Naoyuki; Mizutani, Hiroshi; Kousaka, Shinichi; Nagafuchi, Tsuneyuki; Ochiai, Mariko; Ochiai, Kazuhiko; Kobayashi, Yoshiyasu; Furuoka, Hidefumi; Asai, Tetsuo; Oishi, Koji

    2014-03-01

    We describe a case of human Becker muscular dystrophy (BMD)-like myopathy that was characterized by the declined stainability of dystrophin at sarcolemma in a pig and the immunostaining for dystrophin on the formalin-fixed, paraffin-embedded (FFPE) tissue. The present case was found in a meat inspection center. The pig looked appeared healthy at the ante-mortem inspection. Muscular abnormalities were detected after carcass dressing as pale, discolored skeletal muscles with prominent fat infiltrations and considered so-called "fatty muscular dystrophy". Microscopic examination revealed following characteristics: diffused fat infiltration into the skeletal muscle and degeneration and regeneration of the remaining skeletal muscle fibers. Any lesions that were suspected of neurogenic atrophy, traumatic muscular degeneration, glycogen storage disease or other porcine muscular disorders were not observed. The immunostaining for dystrophin was conducted and confirmed to be applicable on FFPE porcine muscular tissues and revealed diminished stainability of dystrophin at the sarcolemma in the present case. Based on the histological observations and immunostaining results, the present case was diagnosed with BMD-like myopathy associated with dystrophin abnormality in a pig. Although the genetic properties were not clear, the present BMD-like myopathy implied the occurrence of dystrophinopathy in pigs. To the best of our knowledge, this is the first report of a natural case of myopathy associated with dystrophin abnormalities in a pig.

  20. Respiratory tract infection during Hajj

    Directory of Open Access Journals (Sweden)

    Alzeer Abdulaziz

    2009-01-01

    Full Text Available Respiratory tract infection during Hajj (pilgrimage to Mecca is a common illness, and it is responsible for most of the hospital admissions. Influenza virus is the leading cause of upper respiratory tract infection during Hajj, and pneumonia can be serious. Taking into account the close contacts among the pilgrims, as well as the crowding, the potential for transmission of M. tuberculosis is expected to be high. These pilgrims can be a source for spreading infection on their return home. Although vaccination program for influenza is implemented, its efficacy is uncertain in this religious season. Future studies should concentrate on prevention and mitigation of these infections.

  1. Respiratory correlated cone beam CT

    International Nuclear Information System (INIS)

    Sonke, Jan-Jakob; Zijp, Lambert; Remeijer, Peter; Herk, Marcel van

    2005-01-01

    A cone beam computed tomography (CBCT) scanner integrated with a linear accelerator is a powerful tool for image guided radiotherapy. Respiratory motion, however, induces artifacts in CBCT, while the respiratory correlated procedures, developed to reduce motion artifacts in axial and helical CT are not suitable for such CBCT scanners. We have developed an alternative respiratory correlated procedure for CBCT and evaluated its performance. This respiratory correlated CBCT procedure consists of retrospective sorting in projection space, yielding subsets of projections that each corresponds to a certain breathing phase. Subsequently, these subsets are reconstructed into a four-dimensional (4D) CBCT dataset. The breathing signal, required for respiratory correlation, was directly extracted from the 2D projection data, removing the need for an additional respiratory monitor system. Due to the reduced number of projections per phase, the contrast-to-noise ratio in a 4D scan reduced by a factor 2.6-3.7 compared to a 3D scan based on all projections. Projection data of a spherical phantom moving with a 3 and 5 s period with and without simulated breathing irregularities were acquired and reconstructed into 3D and 4D CBCT datasets. The positional deviations of the phantoms center of gravity between 4D CBCT and fluoroscopy were small: 0.13±0.09 mm for the regular motion and 0.39±0.24 mm for the irregular motion. Motion artifacts, clearly present in the 3D CBCT datasets, were substantially reduced in the 4D datasets, even in the presence of breathing irregularities, such that the shape of the moving structures could be identified more accurately. Moreover, the 4D CBCT dataset provided information on the 3D trajectory of the moving structures, absent in the 3D data. Considerable breathing irregularities, however, substantially reduces the image quality. Data presented for three different lung cancer patients were in line with the results obtained from the phantom study. In

  2. Thresholds in chemical respiratory sensitisation.

    Science.gov (United States)

    Cochrane, Stella A; Arts, Josje H E; Ehnes, Colin; Hindle, Stuart; Hollnagel, Heli M; Poole, Alan; Suto, Hidenori; Kimber, Ian

    2015-07-03

    There is a continuing interest in determining whether it is possible to identify thresholds for chemical allergy. Here allergic sensitisation of the respiratory tract by chemicals is considered in this context. This is an important occupational health problem, being associated with rhinitis and asthma, and in addition provides toxicologists and risk assessors with a number of challenges. In common with all forms of allergic disease chemical respiratory allergy develops in two phases. In the first (induction) phase exposure to a chemical allergen (by an appropriate route of exposure) causes immunological priming and sensitisation of the respiratory tract. The second (elicitation) phase is triggered if a sensitised subject is exposed subsequently to the same chemical allergen via inhalation. A secondary immune response will be provoked in the respiratory tract resulting in inflammation and the signs and symptoms of a respiratory hypersensitivity reaction. In this article attention has focused on the identification of threshold values during the acquisition of sensitisation. Current mechanistic understanding of allergy is such that it can be assumed that the development of sensitisation (and also the elicitation of an allergic reaction) is a threshold phenomenon; there will be levels of exposure below which sensitisation will not be acquired. That is, all immune responses, including allergic sensitisation, have threshold requirement for the availability of antigen/allergen, below which a response will fail to develop. The issue addressed here is whether there are methods available or clinical/epidemiological data that permit the identification of such thresholds. This document reviews briefly relevant human studies of occupational asthma, and experimental models that have been developed (or are being developed) for the identification and characterisation of chemical respiratory allergens. The main conclusion drawn is that although there is evidence that the

  3. Stem cells and respiratory diseases

    Energy Technology Data Exchange (ETDEWEB)

    Abreu, Soraia Carvalho; Maron-Gutierrez, Tatiana; Garcia, Cristiane Sousa Nascimento Baez; Morales, Marcelo Marcos; Rocco, Patricia Rieken Macedo [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil). Inst. de Biofisica Carlos Chagas Filho. Lab. de Investigacao]. E-mail: prmrocco@biof.ufrj.br

    2008-12-15

    Stem cells have a multitude of clinical implications in the lung. This article is a critical review that includes clinical and experimental studies of MedLine and SciElo database in the last 10 years, where we highlight the effects of stem cell therapy in acute respiratory distress syndrome or more chronic disorders such as lung fibrosis and emphysema. Although, many studies have shown the beneficial effects of stem cells in lung development, repair and remodeling; some important questions need to be answered to better understand the mechanisms that control cell division and differentiation, therefore enabling the use of cell therapy in human respiratory diseases. (author)

  4. Stem cells and respiratory diseases

    International Nuclear Information System (INIS)

    Abreu, Soraia Carvalho; Maron-Gutierrez, Tatiana; Garcia, Cristiane Sousa Nascimento Baez; Morales, Marcelo Marcos; Rocco, Patricia Rieken Macedo

    2008-01-01

    Stem cells have a multitude of clinical implications in the lung. This article is a critical review that includes clinical and experimental studies of MedLine and SciElo database in the last 10 years, where we highlight the effects of stem cell therapy in acute respiratory distress syndrome or more chronic disorders such as lung fibrosis and emphysema. Although, many studies have shown the beneficial effects of stem cells in lung development, repair and remodeling; some important questions need to be answered to better understand the mechanisms that control cell division and differentiation, therefore enabling the use of cell therapy in human respiratory diseases. (author)

  5. Activation of respiratory muscles during respiratory muscle training.

    Science.gov (United States)

    Walterspacher, Stephan; Pietsch, Fabian; Walker, David Johannes; Röcker, Kai; Kabitz, Hans-Joachim

    2018-01-01

    It is unknown which respiratory muscles are mainly activated by respiratory muscle training. This study evaluated Inspiratory Pressure Threshold Loading (IPTL), Inspiratory Flow Resistive Loading (IFRL) and Voluntary Isocapnic Hyperpnea (VIH) with regard to electromyographic (EMG) activation of the sternocleidomastoid muscle (SCM), parasternal muscles (PARA) and the diaphragm (DIA) in randomized order. Surface EMG were analyzed at the end of each training session and normalized using the peak EMG recorded during maximum inspiratory maneuvers (Sniff nasal pressure: SnPna, maximal inspiratory mouth occlusion pressure: PImax). 41 healthy participants were included. Maximal activation was achieved for SCM by SnPna; the PImax activated predominantly PARA and DIA. Activations of SCM and PARA were higher in IPTL and VIH than for IFRL (p<0.05). DIA was higher applying IPTL compared to IFRL or VIH (p<0.05). IPTL, IFRL and VIH differ in activation of inspiratory respiratory muscles. Whereas all methods mainly stimulate accessory respiratory muscles, diaphragm activation was predominant in IPTL. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne muscular dystrophy.

    Science.gov (United States)

    Galindo, Cristi L; Soslow, Jonathan H; Brinkmeyer-Langford, Candice L; Gupte, Manisha; Smith, Holly M; Sengsayadeth, Seng; Sawyer, Douglas B; Benson, D Woodrow; Kornegay, Joe N; Markham, Larry W

    2016-04-01

    In Duchenne muscular dystrophy (DMD), abnormal cardiac function is typically preceded by a decade of skeletal muscle disease. Molecular reasons for differences in onset and progression of these muscle groups are unknown. Human biomarkers are lacking. We analyzed cardiac and skeletal muscle microarrays from normal and golden retriever muscular dystrophy (GRMD) dogs (ages 6, 12, or 47+ mo) to gain insight into muscle dysfunction and to identify putative DMD biomarkers. These biomarkers were then measured using human DMD blood samples. We identified GRMD candidate genes that might contribute to the disparity between cardiac and skeletal muscle disease, focusing on brain-derived neurotropic factor (BDNF) and osteopontin (OPN/SPP1, hereafter indicated as SPP1). BDNF was elevated in cardiac muscle of younger GRMD but was unaltered in skeletal muscle, while SPP1 was increased only in GRMD skeletal muscle. In human DMD, circulating levels of BDNF were inversely correlated with ventricular function and fibrosis, while SPP1 levels correlated with skeletal muscle function. These results highlight gene expression patterns that could account for differences in cardiac and skeletal disease in GRMD. Most notably, animal model-derived data were translated to DMD and support use of BDNF and SPP1 as biomarkers for cardiac and skeletal muscle involvement, respectively.

  7. Distrofia muscular congênita e deficiência de merosina Congenital muscular dystrophy and merosin deficiency

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1997-01-01

    Full Text Available Uma proporção variável de pacientes com distrofia muscular congênita (DMC da forma clássica ou ocidental apresenta deficiência da cadeia α2 da merosina, uma proteína da matriz extracelular. Foi realizado estudo das características clínicas, laboratoriais e histopatológicas de 18 pacientes com DMC, relacionadas com o padrão de merosina encontrado na biópsia muscular. Estudo imuno-histoquímico demonstrou que 11 pacientes eram merosina-deficiente (MD e sete pacientes eram merosina-positiva (MP. Nenhum dos nove pacientes MD com idade suficiente para serem avaliados alcançaram a capacidade de deambulação, enquanto quatro dos sete pacientes MP atingiram deambulação sem auxílio. Os níveis de creatinoquinase estavam mais aumentados nos pacientes MD, mas a diferença entre os dois grupos não foi estatisticamente significativa. Estudo da condução nervosa motora foi realizado em 12 pacientes. Todos os quatro pacientes MP apresentaram exames normais, enquanto dois de oito pacientes MD apresentaram diminuição da velocidade de condução nervosa motora. Entre 69 parâmetros de biópsia muscular avaliados, não foi encontrada diferença estatisticamente significativa entre os grupos MP e MD. Esses resultados sugerem que a diferenciação entre os casos MP e MD serve para fins de prognóstico, pois os pacientes MP chegam a deambular. Além disso, este estudo indica que não existe relação entre a ausência de merosina e as alterações histológicas encontradas na biópsia muscular.Merosin α2 chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD. A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy. Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7. None of the 9 merosin-deficient patient: evaluated achieved

  8. Perioperative management of gastrostomy tube placement in Duchenne muscular dystrophy adolescent and young adult patients: A role for a perioperative surgical home.

    Science.gov (United States)

    Boivin, Ariane; Antonelli, Richard; Sethna, Navil F

    2018-02-01

    In past decades, Duchenne muscular dystrophy patients have been living longer and as the disease advances, patients experience multisystemic deterioration. Older patients often require gastrostomy tube placement for nutritional support. For optimizing the perioperative care, a practice of multidisciplinary team can better anticipate, prevent, and manage possible complications and reduce the overall perioperative morbidity and mortality. The aim of this study was to review our experience with perioperative care of adolescent and young adults with Duchenne muscular dystrophy undergoing gastrostomy by various surgical approaches in order to identify challenges and improve future perioperative care coordination to reduce morbidity. We retrospectively examined cases of gastrostomy tube placement in patients of ages 15 years and older between 2005 and 2016. We reviewed preoperative evaluation, anesthetic and surgical management, and postoperative complications. Twelve patients were identified; 1 had open gastrostomy, 3 laparoscopic gastrostomies, 5 percutaneous endoscopic guided, and 3 radiologically inserted gastrostomy tubes. All patients had preoperative cardiac evaluation with 6 patients demonstrating cardiomyopathy. Nine patients had preoperative pulmonary consultations and the pulmonary function tests reported forced vital capacity of ≤36% of predicted. Eight patients were noninvasive positive pressure ventilation dependent. General anesthesia with tracheal intubation was administered in 8 patients, and intravenous sedation in 4 patients; 1 received sedation supplemented with regional anesthesia and 3 received deep sedation. One patient had a difficult intubation that resulted in trauma and prolonged tracheal intubation. Three patients developed postoperative respiratory complications. Two patients' procedures were postponed due to inadequate preoperative evaluation and 1 because of disagreement between anesthesia and procedural services as to the optimal

  9. Phosphodiesterase 4 inhibitor and phosphodiesterase 5 inhibitor combination therapy has antifibrotic and anti-inflammatory effects in mdx mice with Duchenne muscular dystrophy.

    Science.gov (United States)

    Nio, Yasunori; Tanaka, Masayuki; Hirozane, Yoshihiko; Muraki, Yo; Okawara, Mitsugi; Hazama, Masatoshi; Matsuo, Takanori

    2017-12-01

    Duchenne muscular dystrophy (DMD) is the most common inherited muscular dystrophy. Patients experience DMD in their 20s from cardiac or respiratory failure related to progressive muscle wasting. Currently, the only treatments for the symptoms of DMD are available. Muscle fibrosis, a DMD feature, leads to reduced muscle function and muscle mass, and hampers pharmaceutical therapeutic efficacy. Although antifibrotic agents may be useful, none is currently approved. Phosphodiesterase 4 (PDE4) inhibitors have exhibited antifibrotic effects in human and animal models. In this study, we showed beneficial effects of the PDE4 inhibitor piclamilast in the DMD mdx mouse. Piclamilast reduced the mRNA level of profibrotic genes, including collagen 1A1, in the gastrocnemius and diaphragm, in the mdx mouse, and significantly reduced the Sirius red staining area. The PDE5 inhibitors sildenafil and tadalafil ameliorated functional muscle ischemia in boys with DMD, and sildenafil reversed cardiac dysfunction in the mdx mouse. Single-treatment piclamilast or sildenafil showed similar antifibrotic effects on the gastrocnemius; combination therapy showed a potent antifibrotic effect, and piclamilast and combination therapy increased peroxisome proliferator-activated receptor γ coactivator-1α mRNA in mouse gastrocnemius. In summary, we confirmed that piclamilast has significant antifibrotic effects in mdx mouse muscle and is a potential treatment for muscle fibrosis in DMD.-Nio, Y., Tanaka, M., Hirozane, Y., Muraki, Y., Okawara, M., Hazama, M., Matsuo, T. Phosphodiesterase 4 inhibitor and phosphodiesterase 5 inhibitor combination therapy has antifibrotic and anti-inflammatory effects in mdx mice with Duchenne muscular dystrophy. © FASEB.

  10. Botulinum toxin for treating muscular temporomandibular disorders: a systematic review

    Directory of Open Access Journals (Sweden)

    Eduardo Machado

    2012-12-01

    Full Text Available OBJECTIVE: This study, through a systematic literature review, aims to analyze the effectiveness of Botulinum Toxin as a treatment for masticatory myofascial pain and muscles temporomandibular disorders (TMD. METHODS: Survey in research bases: MEDLINE, Cochrane, EMBASE, Pubmed, Lilacs and BBO, between the years of 1966 and April 2011, with focus in randomized or quasi-randomized controlled clinical trials, blind or double-blind. RESULTS: After applying the inclusion criteria, 4 articles comprised the final sample: 3 were double-blind randomized controlled clinical trials and 1 was single-blind randomized controlled clinical trial. CONCLUSIONS: According to the literature, there is lack of evidence about the real effectiveness of botulinum toxin in the treatment of masticatory myofascial pain and muscular TMD. Thus, further randomized controlled clinical trials, with representative samples and longer follow-up time, to assess the real effectiveness of the technique are needed.OBJETIVO: este trabalho, por meio de uma revisão sistemática da literatura, teve como objetivo analisar a efetividade da toxina botulínica como tratamento para dor miofascial mastigatória e disfunções temporomandibulares (DTM musculares. MÉTODOS: pesquisa nas bases de dados Medline, Cochrane, Embase, Pubmed, Lilacs e BBO, no período entre 1966 e abril de 2011, com enfoque em estudos clínicos controlados randomizados ou quase-randomizados, cegos ou duplo-cegos. RESULTADOS: após a aplicação dos critérios de inclusão, chegou-se a 4 artigos, sendo que 3 eram estudos clínicos controlados randomizados duplo-cego e 1 era estudo clínico controlado randomizado simples-cego. CONCLUSÕES: pela análise da literatura, verificou-se um número reduzido de evidências significativas sobre a real efetividade da toxina botulínica no tratamento da dor miofascial e de DTM musculares. Assim, são necessários novos estudos clínicos controlados randomizados, com amostras

  11. Climate change and respiratory health.

    Science.gov (United States)

    Gerardi, Daniel A; Kellerman, Roy A

    2014-10-01

    To discuss the nature of climate change and both its immediate and long-term effects on human respiratory health. This review is based on information from a presentation of the American College of Chest Physicians course on Occupational and Environmental Lung Disease held in Toronto, Canada, June 2013. It is supplemented by a PubMed search for climate change, global warming, respiratory tract diseases, and respiratory health. It is also supplemented by a search of Web sites including the Environmental Protection Agency, National Oceanic and Atmospheric Administration, World Meteorological Association, National Snow and Ice Data Center, Carbon Dioxide Information Analysis Center, Inter-Governmental Panel on Climate Change, and the World Health Organization. Health effects of climate change include an increase in the prevalence of certain respiratory diseases, exacerbations of chronic lung disease, premature mortality, allergic responses, and declines in lung function. Climate change, mediated by greenhouse gases, causes adverse health effects to the most vulnerable patient populations-the elderly, children, and those in distressed socioeconomic strata.

  12. [Undernutrition in chronic respiratory diseases].

    Science.gov (United States)

    Zielonka, Tadeusz M; Hadzik-Błaszczyk, Małgorzata

    2015-01-01

    Respiratory diseases such as asthma, COPD, lung cancer, infections, including also tuberculosis constitute the most frequent diseases in the word. Undernutrition frequently accompanies these diseases. Early diagnosis of malnutrition and implementation of appropriate treatment is very important. A nutritional interview and anthropometric examinations, such as body mass index, fat free mass and fat mass are used to diagnose it. Nutritional therapy affects the course and prognosis of these diseases. Diet should be individually adjusted to the calculated caloric intake that increases during exacerbation of disease, because of increased respiratory effort. Too large supply of energy can cause increase metabolism, higher oxygen consumption and PaCO2 increase each dangerous for patients with respiratory insufficiency. Main source of carbohydrates for these patients should be products with low glycemic index and with high dietary fiber contents. Large meals should be avoided since they cause rapid satiety, abdominal discomfort and have negative impact on the work of the respiratory muscles, especially of the diaphragm. Dietary supplements can be used in case of ineffectiveness of diet or for the patients with severe undernutrition.

  13. Respiratory effects of borax dust.

    Science.gov (United States)

    Garabrant, D H; Bernstein, L; Peters, J M; Smith, T J; Wright, W E

    1985-12-01

    The relation of respiratory symptoms, pulmonary function, and abnormalities of chest radiographs to estimated exposures of borax dust has been investigated in a cross sectional study of 629 actively employed borax workers. Ninety three per cent of the eligible workers participated in the study and exposures ranged from 1.1 mg/m3 to 14.6 mg/m3. Symptoms of acute respiratory irritation such as dryness of the mouth, nose, or throat, dry cough, nose bleeds, sore throat, productive cough, shortness of breath, and chest tightness were related to exposures of 4.0 mg/m3 or more, and were infrequent at exposures of 1.1 mg/m3. Symptoms of persistent respiratory irritation meeting the definition of chronic simple bronchitis were related to exposure among non-smokers. Decrements in the FEV1 as a percentage of predicted were seen among smokers who had heavy cumulative borax exposures (greater than or equal to 80 mg/m3 years) but were not seen among less exposed smokers or among non-smokers. Radiographic abnormalities were uncommon and were not related to dust exposure. Borax dust appears to act as a simple respiratory irritant and perhaps causes small changes in the FEV1 among smokers who are heavily exposed.

  14. Guide to industrial respiratory protection

    International Nuclear Information System (INIS)

    Pritchard, J.A.

    1977-03-01

    The Occupational Safety and Health Act of 1970 has increased the emphasis on proper selection and use of respirators in situations where engineering controls are not feasible or are being implemented. Although a great deal of information on respiratory protection has been published, most of it is more technical than necessary for the average user faced with day-to-day problems of respiratory protection in industrial environments. This Guide is to provide the industrial user a single reference source containing enough information for establishing and maintaining a respirator program that meets the OSHA requirements outlined in 29 CFR Part 1910.134. It includes chapters on respirator selection, use, maintenance, and inspection, a complete description of all types of respirators and their advantages and limitations, and chapters on respirator fitting and wearer training, respiratory physiology, respiratory hazards, and physiological and psychological limitations. Also included are samples of the decision logic used in respirator selection, guidance on setting up an adequate respirator program through formulation of written standard operating procedures, and discussion of the meaning of the approved respirator

  15. Mitochondrial alterations and oxidative stress in an acute transient mouse model of muscle degeneration: implications for muscular dystrophy and related muscle pathologies.

    Science.gov (United States)

    Ramadasan-Nair, Renjini; Gayathri, Narayanappa; Mishra, Sudha; Sunitha, Balaraju; Mythri, Rajeswara Babu; Nalini, Atchayaram; Subbannayya, Yashwanth; Harsha, Hindalahalli Chandregowda; Kolthur-Seetharam, Ullas; Srinivas Bharath, Muchukunte Mukunda

    2014-01-03

    Muscular dystrophies (MDs) and inflammatory myopathies (IMs) are debilitating skeletal muscle disorders characterized by common pathological events including myodegeneration and inflammation. However, an experimental model representing both muscle pathologies and displaying most of the distinctive markers has not been characterized. We investigated the cardiotoxin (CTX)-mediated transient acute mouse model of muscle degeneration and compared the cardinal features with human MDs and IMs. The CTX model displayed degeneration, apoptosis, inflammation, loss of sarcolemmal complexes, sarcolemmal disruption, and ultrastructural changes characteristic of human MDs and IMs. Cell death caused by CTX involved calcium influx and mitochondrial damage both in murine C2C12 muscle cells and in mice. Mitochondrial proteomic analysis at the initial phase of degeneration in the model detected lowered expression of 80 mitochondrial proteins including subunits of respiratory complexes, ATP machinery, fatty acid metabolism, and Krebs cycle, which further decreased in expression during the peak degenerative phase. The mass spectrometry (MS) data were supported by enzyme assays, Western blot, and histochemistry. The CTX model also displayed markers of oxidative stress and a lowered glutathione reduced/oxidized ratio (GSH/GSSG) similar to MDs, human myopathies, and neurogenic atrophies. MS analysis identified 6 unique oxidized proteins from Duchenne muscular dystrophy samples (n = 6) (versus controls; n = 6), including two mitochondrial proteins. Interestingly, these mitochondrial proteins were down-regulated in the CTX model thereby linking oxidative stress and mitochondrial dysfunction. We conclude that mitochondrial alterations and oxidative damage significantly contribute to CTX-mediated muscle pathology with implications for human muscle diseases.

  16. [Respiratory diseases in metallurgy production workers].

    Science.gov (United States)

    Shliapnikov, D M; Vlasova, E M; Ponomareva, T A

    2012-01-01

    The authors identified features of respiratory diseases in workers of various metallurgy workshops. Cause-effect relationships are defined between occupational risk factors and respiratory diseases, with determining the affection level.

  17. Assessment of respiratory involvement in children with ...

    African Journals Online (AJOL)

    Background: Mucopolysaccharidosis (MPS) are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of glycosaminoglycan (GAG) metabolism. Respiratory involvement seen in most MPS types includes recurrent respiratory infections, upper and lower airway obstruction, tracheomalacia ...

  18. Coal Mining-Related Respiratory Diseases

    Science.gov (United States)

    ... Topics Publications and Products Programs Contact NIOSH NIOSH COAL WORKERS' HEALTH SURVEILLANCE PROGRAM Recommend on Facebook Tweet Share Compartir Coal Mining-Related Respiratory Diseases Coal mining-related respiratory ...

  19. Respiratory physiology during early life.

    Science.gov (United States)

    Stocks, J

    1999-08-01

    Despite the rapid adaptation to extrauterine life, the respiratory system of an infant is not simply a miniaturized version of that of an adult, since the rapid somatic growth that occurs during the first year of life is accompanied by major developmental changes in respiratory physiology. The highly compliant chest wall of the infant results in relatively low transpulmonary pressures at end expiration with increased tendency of the small peripheral airways to close during tidal breathing. This not only impairs gas exchange and ventilation-perfusion balance, particularly in dependent parts of the lung, but, together with the small absolute size of the airways, renders the infant and young child particularly susceptible to airway obstruction. Premature airways are highly compliant structures compared with those of mature newborns or adults. This increased compliance can cause airway collapse, resulting in increased airways resistance, flow limitation, poor gas exchange and increased work of breathing. Although there is clear evidence that airway reactivity is present from birth, its role in wheezing lower respiratory tract illnesses in young infants may be overshadowed by pre-existing abnormalities of airway geometry and lung mechanics, or by pathological changes such as airway oedema and mucus hypersecretion. Attempts to assess age-related changes in airway reactivity or response to aerosol therapy in the very young is confounded by changes in breathing patterns and the fact that infants are preferential nose breathers. There is increasing evidence that pre-existing abnormalities of respiratory function, associated with adverse events during foetal life (including maternal smoking during pregnancy), and familial predisposition to wheezing are important determinants of wheezing illnesses during the first years of life. This emphasizes the need to identify and minimize any factors that threaten the normal development of the lung during this critical period if

  20. Respiratory symptoms in insect breeders.

    Science.gov (United States)

    Harris-Roberts, J; Fishwick, D; Tate, P; Rawbone, R; Stagg, S; Barber, C M; Adisesh, A

    2011-08-01

    A number of specialist food suppliers in the UK breed and distribute insects and insect larvae as food for exotic pets, such as reptiles, amphibians and invertebrates. To investigate the extent of work-related (WR) symptoms and workplace-specific serum IgE in workers potentially exposed to a variety of biological contaminants, including insect and insect larvae allergens, endotoxin and cereal allergens at a UK specialist insect breeding facility. We undertook a study of respiratory symptoms and exposures at the facility, with subsequent detailed clinical assessment of one worker. All 32 workers were assessed clinically using a respiratory questionnaire and lung function. Eighteen workers consented to provide serum for determination of specific IgE to workplace allergens. Thirty-four per cent (11/32) of insect workers reported WR respiratory symptoms. Sensitization, as judged by specific IgE, was found in 29% (4/14) of currently exposed workers. Total inhalable dust levels ranged from 1.2 to 17.9 mg/m(3) [mean 4.3 mg/m(3) (SD 4.4 mg/m(3)), median 2.0 mg/m(3)] and endotoxin levels of up to 29435 EU/m(3) were recorded. Exposure to organic dusts below the levels for which there are UK workplace exposure limits can result in respiratory symptoms and sensitization. The results should alert those responsible for the health of similarly exposed workers to the potential for respiratory ill-health and the need to provide a suitable health surveillance programme.