Bibliografie tematiche / Duchenne muscular dystrophy

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Letteratura scientifica selezionata sul tema "Duchenne muscular dystrophy"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 9 novembre 2024

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Articoli di riviste sul tema "Duchenne muscular dystrophy"

1

Ibrahim Sory, P., T. Sidi, L. Guida, K. Boureima, M. Alassane Bameye, T. Mohomodine Ibrahim, K. Abdoulaye e C. Idrissa Ahmadou. "Dystrophie Musculaire de Duchenne: Aspects cliniques, biologiques et évolutifs à propos de cinq cas dans le service de Rhumatologie au CHU du Point G." Rhumatologie Africaine Francophone 6, n. 2 (19 gennaio 2024): 18–23. http://dx.doi.org/10.62455/raf.v6i2.53.

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Résumé La dystrophie musculaire de Duchenne (DMD) due à la non expression de la dystrophine est liée au chromosome X. Décrite au 19e siècle, est la plus courante dystrophie musculaire de l’enfant [1, 2]. L’incidence est estimée à 30 cas pour 100 000 naissances [1, 2]. But- étudier les caractères cliniques, biologiques et évolutifs de la dystrophie musculaire de Duchenne. Patients et Méthodes : Il s’est agi d’une étude rétrospective portant sur 5 dossiers de DMD, colligés en 7 ans. Résultats Nous rapportons cinq dossiers de garçons colligés entre 2005 et 2012, 2012, d’âge moyen de 7 ans avec des extrêmes de 1 et 12 ans. L’hypertrophie des mollets et la présence d’un signe de Gowers chez 4/5 patients. Le caractère familial était présent chez 2 garçons âgés de 5 et 10 ans à l’inclusion dont un mariage consanguin. L’examen anatomopathologique musculaire a conclu à des lésions dystrophiques. L’immunohistochimie n’a pas trouvé d’expression de la dystrophine. La corticothérapie précocement instituée à 0,5 mg/kg/jour associée à la rééducation kinésithérapie a maintenu l’autonomie des patients. Conclusion La corticothérapie retarderait les complications cardio-pulmonaires. Associée à la rééducation kinésithérapie et aux conseils pratiques elle a diminué les chutes. Mots clés : Dystrophie – Musculaire – Duchenne, Rhumatologie Bamako Abstract: Introduction Duchenne’s muscular dystrophy (DMD) caused by no dystrophin expression is linked to X chromosome. Described in the 19th century, it is the most common muscular dystrophy of the child [1, 2]. The incidence is estimated at 30 cases per 100 000 births [1, 2]. Goal - Study clinical, biological and evolutive aspects of the Duchenne's Muscular Dystrophy. Patients and Methods: It was a retrospective study about 5 cases of DMD, collected in 7 years [2005-2012]. Results During our study from the period of 2005 to 2012, we had 5 cases of boys with an average age of 7 years and the extreme age from 1 year to 12 years. The calf’s hypertrophy and the presence of a Gowers’s sign in 4/5 patients. Family caracteristic was present in two boys aged 5 and 10 years with a consanguineous marriage. Muscular Histological examination concluded dystrophic lesions. The immunohistiochemistry found no expression of dystrophin. Corticosteroids early established at 0.5 mg / kg / day combined with physiotherapy rehabilitation maintained the autonomy of patients. . Conclusion Corticosteroids would slow douwn cardiopulmonary complications. Associated with the physiotherapy rehabilitation and practical advice, it has decreased falls. Keywords: Duchenne’s muscular dystrophy, Rheumatology, Bamako
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Straub, Volker, Jill A. Rafael, Jeffrey S. Chamberlain e Kevin P. Campbell. "Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption". Journal of Cell Biology 139, n. 2 (20 ottobre 1997): 375–85. http://dx.doi.org/10.1083/jcb.139.2.375.

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Abstract (sommario):
Genetic defects in a number of components of the dystrophin–glycoprotein complex (DGC) lead to distinct forms of muscular dystrophy. However, little is known about how alterations in the DGC are manifested in the pathophysiology present in dystrophic muscle tissue. One hypothesis is that the DGC protects the sarcolemma from contraction-induced damage. Using tracer molecules, we compared sarcolemmal integrity in animal models for muscular dystrophy and in muscular dystrophy patient samples. Evans blue, a low molecular weight diazo dye, does not cross into skeletal muscle fibers in normal mice. In contrast, mdx mice, a dystrophin-deficient animal model for Duchenne muscular dystrophy, showed significant Evans blue accumulation in skeletal muscle fibers. We also studied Evans blue dispersion in transgenic mice bearing different dystrophin mutations, and we demonstrated that cytoskeletal and sarcolemmal attachment of dystrophin might be a necessary requirement to prevent serious fiber damage. The extent of dye incorporation in transgenic mice correlated with the phenotypic severity of similar dystrophin mutations in humans. We furthermore assessed Evans blue incorporation in skeletal muscle of the dystrophia muscularis (dy/dy) mouse and its milder allelic variant, the dy2J/dy2J mouse, animal models for congenital muscular dystrophy. Surprisingly, these mice, which have defects in the laminin α2-chain, an extracellular ligand of the DGC, showed little Evans blue accumulation in their skeletal muscles. Taken together, these results suggest that the pathogenic mechanisms in congenital muscular dystrophy are different from those in Duchenne muscular dystrophy, although the primary defects originate in two components associated with the same protein complex.
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Spiro, Alfred J. "Muscular Dystrophy". Pediatrics In Review 16, n. 11 (1 novembre 1995): 437. http://dx.doi.org/10.1542/pir.16.11.437.

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Abstract (sommario):
Several varieties of muscular dystrophy can be distinguished on clinical, genetic, morphologic, and physiologic grounds. The classification includes Duchenne and Becker muscular dystrophies, both X-linked disorders; facioscapulohumeral muscular dystrophy, which is autosomal dominant; and limb-girdle muscular dystrophy, generally autosomal recessive. Duchenne muscular dystrophy (DMD), which occurs in approximately 1 in 3500 live male births, has no recognizable signs or symptoms at birth. However, markedly elevated serum creatine kinase always is demonstrable, even at birth. A molecular diagnosis can be made at any time in the patient's lifetime by demonstrating the defect in the dystrophin gene, the absence of dystrophin in a muscle biopsy, and the characteristic morphologic abnormalities.
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Dosani, Minaj, e Harish Kumar Singhal. "An Ayurvedic Approach in Muscular Dystrophy in Children". International Journal of Health Sciences and Research 14, n. 3 (9 marzo 2024): 105–16. http://dx.doi.org/10.52403/ijhsr.20240318.

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Abstract (sommario):
Duchenne muscular dystrophy stands out as the most prevalent and severe form of childhood muscular dystrophy, impacting approximately one in every 5200 male births. It results from dystrophin deficiency, a condition inherited through X-linked recessive traits due to a missing or altered dystrophin protein encoded by the DMD gene located on chromosome Xp21. Unfortunately, this myopathy is currently incurable, often leading to mortality between the ages of 20-25. The primary pharmaceutical intervention for Duchenne muscular dystrophy involves corticosteroids, though they come with long-term negative consequences.In the realm of Ayurveda, Duchenne muscular dystrophy falls under the classification of Medomamsa dushti, attributed to Vata doshas and stemming from Bheejabagahaavyava dushti. Ayurvedic strategies for management emphasize the promotion of regeneration in neuromuscular illnesses, employing a combination of Ayurvedic oral drugs and Panchakarma therapies. Key words: DMD, Dystrophin, Muscular Dystrophy, Medovaha Srotodushti
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Jufan, Akhmad Yun, Djayanti Sari e Karlina Mahardieni. "DUCHENNE MUSCULER DYSTROPHY". Jurnal Komplikasi Anestesi 3, n. 2 (27 maggio 2023): 47–53. http://dx.doi.org/10.22146/jka.v3i2.7242.

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Abstract (sommario):
Duchenne muscular dystrophy merupakan suatu kelainan otot yang sering ditemui. Penyakit ini terpaut pada kromosom X yang disebabkan oleh mutasi gen dystrophin. Gejalanya berupa kelemahan otot proksimal yang berat, bersifat degenerasi progresif dan infi ltrasi lemak ke otot. Efek duchenne muscular dystrophy terhadap otot respirasi dan berhubungan dengan kardio-miopati yang dapat mengarah ke kematian.Dilaporkan anak laki-laki usia 12 tahun dengan diagnosa duchenne muscular dystrophy dd/ Baker’s muscular dystrophy dilakukan prosedur biopsi. Pasien dinilai sebagai status fi sik ASA 2 yang dilakukan general anesthesia dengan teknik TIVA. Setelah persiapan preoperasi, pasien diberikan ko induksi dengan midazolam 1,5mg, induksi dengan ketamine 20mg. Pemeliharaan anestesi dengan O2 melalui nasal kanul. Hemodinamik durante operasi stabil dengan jalan nafas terjaga dengan kepala ekstensi. Operasiberlangsung selama 20menit. Perdarahan minimal dan urine output 25cc. Kondisi pasien setelah operasi stabil dan kembali ke bangsal.
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Faqih, M. Izza Zulfana, Wahyu Tri Sudaryanto e Salma Muazzaroh. "ACTIVE ASSISTED MOVEMENT DALAM MENJAGA KEMAMPUAN FUNGSIONAL PADA KONDISI DUCHENNE MUSCULAR DYSTROPHY". Journal of Innovation Research and Knowledge 3, n. 1 (1 luglio 2023): 5047–52. http://dx.doi.org/10.53625/jirk.v3i1.5990.

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Abstract (sommario):
Background: Duchenne muscular dystrophy which is a recessive x-linked disorder that often affects males. Duchenne muscular dystrophy is caused by mutations in the dystrophin gene at the Xp21 locus so that dystrophin protein is not produced or dystrophin deficiency and structural abnormalities occur. Dystrophinopathies are X-linked recessive disorders affecting 1 in 5,000 to 1 in 6,000 live male births. The prevalence of DMD is less than 10 cases per 100,000 males. Objective: Physiotherapy management in this case aims to determine the benefits of providing physiotherapy interventions in the form of active assisted and passive movement and stretching in patients with Duchenne muscular dystrophy. Methods: This case report was conducted at PLDPI Surakarta by taking patients with Duchenne muscular dystrophy cases by providing physiotherapy modalities in the form of active assisted and passive movement and stretching for 3 physiotherapy sessions. Furthermore, measurements were taken with the GMFM and XOTR Scale in the first to third physiotherapy. Results: From the physiotherapy management given, it was found that functional ability and muscle strength remained unchanged and did not develop. Conclusion: Physiotherapy management in this case report is proven to be able to maintain functional ability and muscle strength in patients with Duchenne muscular dystrophy.
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Danisovic, Lubos, Martina Culenova e Maria Csobonyeiova. "Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy". Cells 7, n. 12 (7 dicembre 2018): 253. http://dx.doi.org/10.3390/cells7120253.

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Abstract (sommario):
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles. Currently, there is no effective therapy for this disorder. However, the technology of cell reprogramming, with subsequent controlled differentiation to skeletal muscle cells or cardiomyocytes, may provide a unique tool for the study, modeling, and treatment of Duchenne muscular dystrophy. In the present review, we describe current methods of induced pluripotent stem cell generation and discuss their implications for the study, modeling, and development of cell-based therapies for Duchenne muscular dystrophy.
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Assereto, Stefania, Silvia Stringara, Federica Sotgia, Gloria Bonuccelli, Aldobrando Broccolini, Marina Pedemonte, Monica Traverso et al. "Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment". American Journal of Physiology-Cell Physiology 290, n. 2 (febbraio 2006): C577—C582. http://dx.doi.org/10.1152/ajpcell.00434.2005.

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Abstract (sommario):
In this report, we have developed a novel method to identify compounds that rescue the dystrophin-glycoprotein complex (DGC) in patients with Duchenne or Becker muscular dystrophy. Briefly, freshly isolated skeletal muscle biopsies (termed skeletal muscle explants) from patients with Duchenne or Becker muscular dystrophy were maintained under defined cell culture conditions for a 24-h period in the absence or presence of a specific candidate compound. Using this approach, we have demonstrated that treatment with a well-characterized proteasome inhibitor, MG-132, is sufficient to rescue the expression of dystrophin, β-dystroglycan, and α-sarcoglycan in skeletal muscle explants from patients with Duchenne or Becker muscular dystrophy. These data are consistent with our previous findings regarding systemic treatment with MG-132 in a dystrophin-deficient mdx mouse model (Bonuccelli G, Sotgia F, Schubert W, Park D, Frank PG, Woodman SE, Insabato L, Cammer M, Minetti C, and Lisanti MP. Am J Pathol 163: 1663–1675, 2003). Our present results may have important new implications for the possible pharmacological treatment of Duchenne or Becker muscular dystrophy in humans.
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Spaulding, HR, C. Ballmann, JC Quindry, MB Hudson e JT Selsby. "Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models". JRSM Cardiovascular Disease 8 (gennaio 2019): 204800401987958. http://dx.doi.org/10.1177/2048004019879581.

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Abstract (sommario):
Background Duchenne muscular dystrophy is a muscle wasting disease caused by dystrophin gene mutations resulting in dysfunctional dystrophin protein. Autophagy, a proteolytic process, is impaired in dystrophic skeletal muscle though little is known about the effect of dystrophin deficiency on autophagy in cardiac muscle. We hypothesized that with disease progression autophagy would become increasingly dysfunctional based upon indirect autophagic markers. Methods Markers of autophagy were measured by western blot in 7-week-old and 17-month-old control (C57) and dystrophic (mdx) hearts. Results Counter to our hypothesis, markers of autophagy were similar between groups. Given these surprising results, two independent experiments were conducted using 14-month-old mdx mice or 10-month-old mdx/Utrn± mice, a more severe model of Duchenne muscular dystrophy. Data from these animals suggest increased autophagosome degradation. Conclusion Together these data suggest that autophagy is not impaired in the dystrophic myocardium as it is in dystrophic skeletal muscle and that disease progression and related injury is independent of autophagic dysfunction.
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lordlin, Dr R. T. J. R. Lordlin, e Dr Franklin Shaju. "PHYSIO IN DUCHENNE MUSCULAR DYSTROPHY (DMD)". IDC International Journal 8, n. 4 (10 ottobre 2021): 1–4. http://dx.doi.org/10.47211/idcij.2021.v08i04.001.

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Abstract (sommario):
Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy and is caused by mutations in the dystrophin gene. Dystrophin, together with several other protein components, is part of a complex known as the dystrophin glycoprotein complex (DGC). The DGC plays an essential role in maintaining the structural integrity of the muscle cell membrane by providing a link between the extracellular matrix and the cytoskeleton
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Tesi sul tema "Duchenne muscular dystrophy"

1

Rabinowitz, Adam Howard. "Antisense therapies for Duchenne muscular dystrophy". Thesis, Imperial College London, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.444590.

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Smith, T. J. "Molecular analysis of Duchenne muscular dystrophy". Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.233559.

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Hodgson, Shirley V. "Genetic studies in Duchenne muscular dystrophy". Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235878.

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Wakefield, Philip M. "Gene therapy for duchenne muscular dystrophy". Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365743.

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Koppaka, Sisir. "Imaging biomarkers for Duchenne muscular dystrophy". Thesis, Massachusetts Institute of Technology, 2015. http://hdl.handle.net/1721.1/106959.

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Abstract (sommario):
Thesis: S.M., Massachusetts Institute of Technology, School of Engineering, Center for Computational Engineering, Computation for Design and Optimization Program, 2015.
Cataloged from PDF version of thesis.
Includes bibliographical references (pages 75-78).
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy of childhood and affects 1 in 3600 male births. The disease is caused by mutations in the dystrophin gene leading to progressive muscle weakness which ultimately results in death due to respiratory and cardiac failure. Accurate, practical, and painless tests to diagnose DMD and measure disease progression are needed in order to test the effectiveness of new therapies. Current clinical outcome measures such as the sixminute walk test and North Star Ambulatory Assessment (NSAA) can be subjective and limited by the patient's degree of effort and cannot be accurately performed in the very young or severely affected older patients. We propose the use of image-based biomarkers with suitable machine learning algorithms instead. We find that force-controlled (precise acquisition at a certain force) and force-correlated (acquisition over a force sweep) ultrasound helps to reduce variability in the imaging process. We show that there is a high degree of inter-operator and intra-operator reliability with this integrated hardware-software setup. We also discuss how other imaging biomarkers, segmentation algorithms to target specific subregions, and better machine learning techniques may provide a boost to the performance reported. Optimizing the ultrasound image acquisition process by maximizing the peak discriminatory power of the images vis-à-vis force applied at the contact force is also discussed. The techniques presented here have the potential for providing a reliable and non-invasive method to discriminate, and eventually track the progression of DMD in patients.
by Sisir Koppaka.
S.M.
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Tay, Shaun Li Jian. "Duchenne Muscular Dystrophy—Insight and Treatment". Thesis, The University of Arizona, 2015. http://hdl.handle.net/10150/595055.

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Abstract (sommario):
Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive degeneration of muscle fibers and dystrophic changes on muscle biopsy¹. DMD accounts for approximately 50% of all dystrophinopathies, with around 21,000 male babies born with the disease each year², ³, ⁴, ⁵. It is also the most lethal X-linked recessive disorder as phenotypic traits are not immediately present at birth¹¹, ³. Patients usually do not live past their 20's without medical intervention to treat associated respiratory and cardiac dysfunctions¹¹, ³. For these reasons DMD remains one of the greatest threats, amongst a range of pediatric pathologies, to the normalcy of child development and parental care. Although treatment options have shown to mitigate the progression of DMD, most are controversial and costly - the estimated annual treatment cost of DMD per patient is $50,953⁵⁸. In light of this, disease awareness and public health education are critical components for acquiring funds needed for research towards a cure¹². My hope is that through this integrated overview of DMD, the medical layman will better understand the depths of this lethal disease, and how it can be detrimental to both the affected child and his caretaker.
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vianello, sara. "Molecular modifiers in Duchenne muscular dystrophy". Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3426720.

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Abstract (sommario):
Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disease affecting 1:3500 –1/5000 boys at birth. It is caused by the absence of dystrophin, a subsarcolemmal protein that confers membrane stability linking cytoskeletal actin to the extracellular matrix. Dystrophin is part of a multi-protein complex called dystrophin associated protein complex (DAPC), which contains, among the other components, β-dystroglycan and nitric oxide synthase (NOS). The consequences of the absence of dystrophin are: deregulation of calcium homeostasis, tissue necrosis, and progressive accumulation of fat and fibrosis and loss of contractile muscle fibers. The ensuing muscle weakness leads to progressive and severe disability, with loss of independent ambulation around the early teens, and cardiac and respiratory failure leading to patient’s death, usually around the age of 20-30 years.Despite all patients having a complete lack of dystrophin in muscle fibers, a relevant inter-patient variability in disease severity is observed (e.g. loss of ambulation may range from 8 to beyond 15 years of age). Emerging evidence points to genetic modifiers, i.e. polymorphisms in genes different form the disease gene, as one of the causes of this variability, but little is yet known about the underlying molecular mechanisms.My PhD work can be divided into 4 aims: Aim 1: To characterize the molecular mechanism underlying the modifier effect of the rs28357094 T>G SNP in the SPP1gene, encoding osteopontin (OPN) the first identified genetic modifier of DMD. I treated dystrophic and healthy cell line with two different concentrations of deflazacort (DFZ), one of the glucocorticoids mainly used to treat DMD patients, in order to analyze osteopontin expression in relation to genetic background at rs24357094. The results obtained revealed: (I) a developmental regulated expression pattern of OPN; (II) no difference of osteopontin expression are observed related to rs28357094 genotype; (III) an increase in OPN expression only in TG DFZ-treated myotubes, suggesting a possible interaction between glucocorticoid responsive elements (GRs) in the promoter of the SPP1gene and the glucocorticoid.Aim 2: To investigate the possible roles of SPP1splicing isoforms in DMDmuscle biopsies and cells. Three SPP1isoforms, named a, b and c, were analyzed. SPP1mRNA studies revealed that all three isoforms are overexpressed in DMD muscle compared to controls, but not in myogenic cell cultures. Moreover, SPP1isoforms expression was directly correlated withage in DMD patients’ muscle biopsies. Finally, muscle biopsies carrying the rs24357094 TT genotype showed an increased expression of all three SPP1isoforms compared to TG genotype. Aim 3: To validate the known DMD geneticmodifiers in novel cohorts of DMD patients utilizing different outcome measures. First, we asked if SPP1genotype and LTBP4haplotype (the second identified modifier of DMD) can modulate the cardiac involvement in DMD. LTBP4haplotye and the SPP1rs28357094 were genotyped in 168 DMD patients. LTBP4haplotype is composed of 4 polymorphisms in perfect linkage disequilibrium (LD). The genotype at rs10880 resulted, as expected, to be associated to a delay at age of loss of ambulation (LoA) and, as novel finding, also to a delay in cardiomyopathy onset. The SPP1minor G allele at rs28357094 resulted also associated to a later cardiomyopathy onset.Finally, I participate to the identification of the third genetic modifier in DMD: CD40. CD40was identified through a GWAS approach in a large cohort of DMD patients.The CD40rs1883832 C>T polymorphism is located within the Kozak sequence of the gene and it causes a decrease of transcriptional activity of the promoter resulting in an increase of the CD40 secreted isoform. In order to validate CD40 as a genetic modifier in DMD in an independent cohort from the discovery cohort, rs1883832 was genotyped in 96 DMD patients.DMD patients carrying the minor T allele lost ambulation earlier compared to patients carrying the C allele. Moreover, in order to study the functional role of CD40 in DMD, RT-PCR and immunoblot were performed in a subset of patients’ muscle biopsies stratified according to rs1883832 genotype. Our results reveal that the minor T allele is associated to an increase of the transcript and a decrease of the protein compared to C genotype.Taken together these data contribute to clarify some aspects of the molecular mechanisms underlying the downstream consequences of genetic modifiers in DMD. Further studies are needed to fully translate the knowledge acquired in thefield of genetic modifiers in DMD to the clinic, e.g. to implement patient genotyping for genetic counseling, prognosis, planning of treatments, and stratification in clinical trials
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Coovert, Daniel David. "Analysis of dystrophin in duchenne muscular dystrophy and SMN in spinal muscular atrophy /". The Ohio State University, 1998. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487951595500021.

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Smith, Philip E. M. "Breathing during sleep in Duchenne muscular dystrophy". Thesis, University of Liverpool, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235539.

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Babaria, Arati. "Molecular Mechanisms that Underlie Duchenne Muscular Dystrophy". Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/612573.

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Abstract (sommario):
Duchenne muscular dystrophy is an inherited, X-linked recessive skeletal muscle disorder that is characterized by mutations in the dystrophin gene [1]. Therefore, the disease affects primarily males and women are typically carriers. 1 in 3500 males in the United States are affected [1]. Dystrophin is a critical, large scaffolding protein in the dystrophin-glycoprotein complex found at the sarcolemma of skeletal muscle [1]. The complex helps maintain sarcolemma integrity and stability during muscle contractions by coupling the extracellular matrix proteins to the intracellular cytoskeleton in skeletal muscle [1]. Loss-of-function mutations in the dystrophin protein affect all skeletal muscle found throughout the human body. The 427 kD protein is also present in cardiac muscle, the brain, and peripheral nerves, thus affecting these tissues over time, as well [1]. One theory suggests the weakened stability of the dystrophin-glycoprotein complex when dystrophin is not expressed results in transient membrane tears during contraction, which permit pathological calcium influx [1]. Damaged skeletal muscle results in repair and regeneration of the tissue however, continual damage over time (referred to as muscle wasting) results in extensive fibrosis and loss of muscle fibers. The purpose of this thesis is to provide a comprehensive review on several molecular mechanisms that underlie Duchenne muscular dystrophy and to investigate current treatments and propose potential therapeutic targets for future research.
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Più fonti

Libri sul tema "Duchenne muscular dystrophy"

1

Bernardini, Camilla, a cura di. Duchenne Muscular Dystrophy. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4939-7374-3.

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2

S, Chamberlain Jeffrey, e Rando Thomas A, a cura di. Duchenne muscular dystrophy: Advances in therapeutics. New York: Taylor & Francis, 2005.

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3

Kate, Stone, a cura di. Occupational therapy and Duchenne muscular dystrophy. Chichester, West Sussex, England: John Wiley & Sons, 2007.

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4

1932-, Kakulas Byron A., Mastaglia Frank L e Neuromuscular Foundation of Western Australia., a cura di. Pathogenesis and therapy of Duchenne and Becker muscular dystrophy. New York: Raven Press, 1990.

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1932-, Kakulas Byron A., Howell J. McC e Roses Allen D, a cura di. Duchenne muscular dystrophy: Animal models and genetic manipulation. New York: Raven Press, 1992.

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6

Herrmann, Falko H. X-linked muscular dystrophies (Duchenne and Becker): A bibliography. Jena: Universitaẗsbibliothek, 1985.

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Herrmann, Falko H. X-linked muscular dystrophies (Duchenne and Becker): A bibliography. Jena: Universitätsbibliothek, 1985.

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Herrmann, Falko H. X-linked muscular dystrophies (Duchenne and Becker): A bibliography. Jena: Universita tsbibliothek, 1985.

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Bergman, Thomas. Precious time: Children living with muscular dystrophy. Milwaukee: Gareth Stevens Pub., 1996.

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10

Emery, Alan E. H. The history of a genetic disease: Duchenne muscular dystrophy or Meryon's disease. London: Royal Society of Medicne Press, 1995.

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Capitoli di libri sul tema "Duchenne muscular dystrophy"

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Johannesmeyer, David, e Reed Estes. "Duchenne Muscular Dystrophy". In Orthopedic Surgery Clerkship, 581–82. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52567-9_122.

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Gilbert, Patricia. "Duchenne muscular dystrophy". In The A-Z Reference Book of Syndromes and Inherited Disorders, 94–98. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_24.

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Angelini, Corrado. "Duchenne Muscular Dystrophy". In Genetic Neuromuscular Disorders, 3–7. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_1.

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Dickson, George, e Susan C. Brown. "Duchenne muscular dystrophy". In Molecular and Cell Biology of Human Gene Therapeutics, 261–80. Dordrecht: Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0547-7_14.

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Markert, Chad D., Martin K. Childers e Robert W. Grange. "Duchenne Muscular Dystrophy". In Encyclopedia of Exercise Medicine in Health and Disease, 262–65. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-540-29807-6_250.

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Angelini, Corrado. "Duchenne Muscular Dystrophy". In Genetic Neuromuscular Disorders, 3–7. Cham: Springer International Publishing, 2014. http://dx.doi.org/10.1007/978-3-319-07500-6_1.

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Juan, Angielyn San, e John J. Grayhack. "Duchenne Muscular Dystrophy". In Orthopaedics for the Newborn and Young Child, 363–70. Cham: Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-11136-5_35.

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Cantor, Richard M., Charles V. Pollack e Victoria G. Riese. "Duchenne Muscular Dystrophy". In Differential Diagnosis of Cardiopulmonary Disease, 379–89. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-63895-9_25.

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Dillane, Derek. "Duchenne Muscular Dystrophy". In Preoperative Assessment, 205–10. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-58842-7_31.

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Metze, Dieter, Tam Nguyen, Birgit Haack, Alexander K. C. Leung, Noriko Miyake, Naomichi Matsumoto, A. J. Larner et al. "Duchenne Muscular Dystrophy". In Encyclopedia of Molecular Mechanisms of Disease, 547. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8371.

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Atti di convegni sul tema "Duchenne muscular dystrophy"

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Rossoni, Tainara Emanuele, Ranieri Alvin Stroher Junior e Bruna Hoeller. "Duchenne Muscular Dystrophy - Case Report". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.129.

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Abstract (sommario):
Context: Duchenne Muscular Dystrophy (DMD) is an inherited recessive disease linked to the X chromosome, it is a progressive neuromuscular disease most prevalent in the world, affecting 1/3600 male births. It is associated with mutations that lead to loss of dystrophin protein expression, loss of severe muscle, respiratory and cardiac failure. At birth, the signs are generally nonspecific. At 3 years of age there is the appearance of specific changes, starting with muscle weakness, which occurs in an ascending, symmetrical and bilateral manner, becoming evident at around 5 years of age, with difficulty walking, jumping and running, in addition to frequent falls. The disease progresses with cardiorespiratory failure, leading to death between 18 and 25 years. Case Report: Male, 3 years old, with frequent falls, difficulty climbing stairs and rising from the floor, even with support, medical guidance for expectant conduct. At 5 years, clinical worsening, investigation of the condition, changes alteration in the creatinophosphokinase test (8918 U / L), suggesting a hypothesis of Muscular Dystrophy. Karyotype performed, with revelation of genetic changes compatible with DMD. Family heredogram, showing a brother without traits for DMD and a mother with an allele for the disease. The patient evolved with progressive loss of motor functions, reaching inability to move around at 9 years of age and the appearance of cardiac changes - left ventricular systolic dysfunction and extrasystoles. Currently, the patient presents marked movement restriction and undergoes palliative treatment. Conclusions: A DMD relies only on palliative therapy, the recognition of the initial clinical manifestations is essential for its investigation, diagnosis and early treatment, enabling improvement in quality and life expectancy.
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Fiorentino, Giuseppe, Anna Annunziata, Maria Antonietta Mazza, Rosa Cauteruccio, Gianfranco Scotto di Frega e Anna Michela Gaeta. "Mouthpiece ventilation in Duchenne muscular dystrophy". In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa2166.

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Cavache, Alina, Diana Zaharia, Raluca Ioana Teleanu, Diana Anamaria Epure, Dana Vasile, Magdalena Sandu, Ioana Adriana Ghiorghiu e Doina Anca Plesca. "P315 Electrocardiographic changes in duchenne muscular dystrophy". In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.403.

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Grinio, L. "A new hypothesis of duchenne muscular dystrophy". In Scientific achievements of the third millennium. SPC "LJournal", 2021. http://dx.doi.org/10.18411/scienceconf-03-2021-41.

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Dell'Acqua, Guido, e Filippo Castiglione. "A Mathematical Model of Duchenne Muscular Dystrophy". In Selected Contributions from the 9th SIMAI Conference. WORLD SCIENTIFIC, 2009. http://dx.doi.org/10.1142/9789814280303_0028.

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Cassino, Theresa R., Masaho Okada, Lauren Drowley, Johnny Huard e Philip R. LeDuc. "Mechanical Stimulation Improves Muscle-Derived Stem Cell Transplantation for Cardiac Repair". In ASME 2008 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2008. http://dx.doi.org/10.1115/sbc2008-192941.

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Muscle-derived stem cells (MDSCs) have been successfully transplanted into both skeletal (1) and cardiac muscle (2) of dystrophin-deficient (mdx) mice, and show potential for improving cardiac and skeletal dysfunction in diseases like Duchenne muscular dystrophy (DMD). Our previous study explored the regeneration of dystrophin-expressing myocytes following MDSC transplantation into environments with distinct blood flow and chemical/mechanical stimulation attributes. After MDSC transplantation within left ventricular myocardium and gastrocnemius (GN) muscles of the same mdx mice, significantly more dystrophin-positive fibers were found within the myocardium than in the GN. We hypothesized that the differences in mechanical loading of the two environments influenced the transplantation and explored whether using MDSCs exposed to mechanical stimulation prior to transplantation could improve transplantation. Our study shows increased engraftment into the heart and GN muscle for cells pretreated with mechanical stretch for 24 hours. This increase was significant for transplantation into the heart. These studies have implications in a variety of applications including mechanotransduction, stem cell biology, and Duchenne muscular dystrophy.
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Molloy, Helen, Victoria Beesley, Dipansu Ghosh e Mark Elliot. "NIV in Duchenne Muscular Dystrophy : A qualitative study". In ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa1890.

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Gushue, C. A., e R. Shell. "Effectiveness of Airway Clearance in Duchenne Muscular Dystrophy". In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a3679.

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Koppaka, Sisir, Matthew W. Gilbertson, Jim S. Wu, Seward B. Rutkove e Brian W. Anthony. "Assessing duchenne muscular dystrophy with force-controlled ultrasound". In 2014 IEEE 11th International Symposium on Biomedical Imaging (ISBI 2014). IEEE, 2014. http://dx.doi.org/10.1109/isbi.2014.6867965.

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"Mutations in Duchenne and Becker Muscular Dystrophy Patients". In AEBMS-2017, ICCET-2017, BBMPS-17, UPACEE-17, LHESS-17, TBFIS-2017, IC4E-2017, AMLIS-2017 & BEFM-2017. Higher Education and Innovation Group (HEAIG), 2018. http://dx.doi.org/10.15242/heaig.c1217230.

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Rapporti di organizzazioni sul tema "Duchenne muscular dystrophy"

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Martin, Paul T. Translational Studies of GALGT2 Gene Therapy for Duchenne Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2014. http://dx.doi.org/10.21236/ada613577.

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Martin, Paul T. Translational Studies of GALGT2 Gene Therapy for Duchenne Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, ottobre 2013. http://dx.doi.org/10.21236/ada598203.

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Kumar, Manish, e Shilpa Singh. Antisense Oligonucleotides for Duchenne Muscular Dystrophy: Rapid Systematic Review of Phase 3 Trials. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, luglio 2024. http://dx.doi.org/10.37766/inplasy2024.7.0031.

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Byrne, Barry J. Advanced Gene Therapy for Treatment of Cardiomyopathy and Respiratory Insufficiency in Duchenne Muscular Dystrophy. Fort Belvoir, VA: Defense Technical Information Center, settembre 2014. http://dx.doi.org/10.21236/ada613171.

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C. Uy, Genevieve, Raymond L. Rosales e Satish Khadilkar. Myopathies in Clinical Care: A Focus on Treatable Causes. Progress in Neurobiology, febbraio 2024. http://dx.doi.org/10.60124/j.pneuro.2024.10.01.

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Myopathies present a wide range of clinical symptoms that affect the skeletal muscles, including weakness, fatigue, and pain. While acquired myopathies receive significant attention due to the availability of treatment options, it is important to note that some inherited myopathies can also be effectively managed. These myopathies can be classified based on their underlying causes, such as infectious agents, autoimmune disorders leading to muscle inflammation, granulomatous inflammation, metabolic abnormalities within the muscle cells, skeletal muscle channel dysfunctions, prolonged ICU stay, and inherited conditions such as Duchenne muscular dystrophy. In this review, we initially present a clinical approach to neuromuscular diseases and subsequently place specific emphasis on myopathies, particularly to those that have treatment options available.
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