Muscular dystrophy pathology ppt

Muscular dystrophy presentation - SlideShar

Muscular dystrophy presentation 1. Muscular Dystrophy<br />Kamille Bauer<br /> 2. What is it?<br />Muscular Dystrophy (MD) is a group of inherited diseases in which the voluntary muscles progressively weaken overtime.<br />Heart and other organs can also be affected.<br />MD affects more than 50,000 Americans.<br />9 major types:<br />Duchenne, Myotonic, Becker, Limb-girdle. Muscular dystrophy: Group of more than 30 inherited diseases. - Muscular dystrophy (MD) is a group of more than 30 inherited diseases. It causes weakening and breaking down of muscle fibres. The muscles become weak and susceptible to damage. This disease affects the voluntary or skeletal muscles, which control the movements of legs, arms, and. Dr. Derakhshandeh Muscular dystrophy Muscular dystrophy (MD) is a group of rare inherited muscle diseases in which muscle fibers are unusually susceptible to damage. - A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 670f54-YjIw

Cardiac Problems With Muscular Dystrophy

Muscular Dystrophy. What is Muscular Dystrophy? (MD) • Muscular Dystrophy: group of genetic disorders that are characterized by progressive loss of muscle integrity, wasting, and weakness. Characterized by degeneration and regeneration of muscle fibers (in contrast with static or structural myopathies) • Muscular Dystrophy Association - Covers all muscular dystrophies and myopathies. MUSCULAR DYSTROPHY Group of hereditary diseases characterized by gradual atrophy and weakness of muscle tissue. There is no cure for muscular dystrophy. Duchenne dystrophy is the most common form with an average lifespan of 20 yrs

Muscular Dystrophy PowerPoint PPT Presentation

Skeletal Muscle Pathology For Second Year Dental Students By Dr. Ioannis G. Koutlas Duchene muscular dystrophy X-linked Pelvic and shoulder girdles Deletion of gene that encodes dystrophin Degeneration of muscles, impaired repair, fibrosis, fibrofatty deposits Elevated serum creatinine kinase Death form respiratory insufficiency, cardiac arrhythmia, 10-15 years of age wheel chair-bound. Muscle pathology of muscular dystrophy-inflammatory hypothesis: muscles in DMD patients exhibit coordinated activity of numerous components of a chronic inflammatory response - cytokine and chemokine signaling, leukocyte adhesion and complement activation, in vivo depletion of CD4+ and CD8+ T cells or macrophages reduces pathology i Muscle Pathology PowerPoint: This PowerPoint on Muscle Pathology is geared to any High School Biology or Anatomy class/grade. The purpose of this PowerPoint is to summarize the important information and concepts about the Muscular System. There are 6 slides (excluding the title slide) on this PowerPoint which contain the following titles: Myopath

Muscular dystrophies - Heterogeneous group of inherited primary muscle diseases characterized by progressive muscular weakness and wasting Duchenne muscular dystrophy [Fig. 20-8] - most common dystrophy caused by deficiency of dystrophin an integral protein in cell plasma membrane (including skeletal muscle cells Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, mostly in boys 2. Muscular dystrophies 3. Congenital myopathies 4. Metabolic myopathies 5. Inflammatory myopathies 6. Toxic myopathies 7. Diseases of the neuromuscular junction . A patient that presents with muscle weakness can have any of these: Primary to the nerve, secondary to the muscle. 2-6 are primary to the muscl

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  1. Duchenne muscular dystrophy is the most common childhood form of the disease; it occurs in one of every 3,300 male births. It is a sex-linked disorder, meaning that it strikes males almost exclusively. The disease is caused by a defective gene on the 23rd, or X, chromosome that results in the failure of the body to produce a functional muscle protein called dystrophin
  2. Ullrich congenital muscular dystrophy What are congenital muscular dystrophies (CMDs)? The CMDs are a group of conditions that share an early presentation and a similar appearance of the muscle. Congenital means 'from birth', and in CMDs, the initial symptoms are present at birth or in the first few months of life. They are a very varie
  3. Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity

Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol . 2009 Jan 15. 103(2):262-5. [Medline] Duchenne muscular dystrophy is a devastating inherited neuromuscular disorder that affects one in 3300 live male births. Although the responsible gene and its product, dystrophin, have been characterized for more than 15 years, and a mouse model (mdx) has been developed, comprehensive understanding of the mechanism leading from the absence of dystrophin to the muscular degeneration is still. Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations. The first historical account of MD was reported by Conte and Gioja in.

Muscular Dystrophy Muscular Dystrophy Muscl

  1. The Duchenne and Becker forms of muscular dystrophy (DMD and BMD) result from mutations of the dystro-phin gene on the X chromosome. DMD is the most common form of muscular dystrophy. Almost all boys with DMD are symptomatic before the age of 5 years, with difficulty running, jumping, and climbing steps; a waddling gait; and lumbar lordosis
  2. Duchenne muscular dystrophy (DMD) is a genetic condition which affects the muscles, causing muscle weakness. It is a serious condition which starts in early childhood. The muscle weakness is not noticeable at birth, even though the child is born with the gene which causes it. The weakness develops gradually, usually noticeable by the age of three
  3. Duchenne Muscular Dystrophy (DMD) is the most severe and most common of Muscular Dystrophies in childhood. X-linked inheritance pattern; one third are fresh mutations. Manifestations of DMD Waddling gait, frequent falls, Gower sign Lordosis Enlarged muscles, pseudohypertrophy, especially thighs and upper arms Evidence of muscle weakness appears during 3rd to 7th grade

The term muscular dystrophy means pro-gressive muscle degeneration, with increas-ing weakness and wasting (loss of bulk) of muscles. In FSHD, weakness first and most seriously affects the face, shoulders and upper arms, but the disease usually also causes weakness in other muscles. Because FSHD is a disease that usuall CHAPTER 17 MUSCLE AND NERVE PATHOLOGY. Muscle biopsy. Muscular dystrophy. Dystrophinopathies (Duchenne and Becker muscular dystrophy) Facioscapulohumeral muscular dystrophy. Defects in nuclear membrane proteins (including Emery-Dreifuss dystrophy) Myotonic dystrophy. Limb girdle muscular dystrophies. Myotilinopathy With muscular dystrophy, dys means bad or difficult, and troph means nourish; so muscular dystrophy basically refers to the muscle appearing poorly nourished because of degeneration, which leads to muscle weakness.. Under a microscope, a biopsy of the tissue shows changes in the muscle itself but not in the nerve or neuromuscular junction; this distinguishes muscular dystrophy from. Muscular dystrophies are a group a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy

Muscle Pathology PowerPoint Teaching Resource

  1. Living with muscular dystrophy: health related quality of life consequences for children and adults. Health Qual Life Outcomes. 2007. 5:31. . . Yamada Y, Kawakami M, Wada A, Otsuka T, Muraoka K, Liu M. A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy
  2. Muscular dystrophy results in difficulty walking, disability, ultimately the use of a wheelchair. Currently there is no treatment available to stop any form of muscular dystrophy. However, certain therapies and medications aim to treat the various problems that result from muscular dystrophy
  3. ant form the result in mutation in la

Arial Times New Roman Wingdings Refined Pathology 2 Misc. Diseases Findings for Nutritional Diseases Scurvy Slide 4 Rickets Slide 6 Hypervitaminosis (D) Slide 8 Obesity Slide 10 Findings for Misc. Disorders Lead Poisoning Slide 13 Sarcoidosis Slide 15 Slide 16 Systemic Lupus Erythematosus Slide 18 Slide 19 Melanoma Slide 21 Muscular Dystrophy. Muscular dystrophy is a group of inherited diseases that causes weakness and wasting away of muscle tissue. They can also cause the breakdown of nerve tissue. There are multiple types of muscular dystrophy. Each type leads to loss of strength, increasing disability, and possible deformity. The most common is Duchenne muscular dystrophy (DMD) View MSS 3.ppt from HAN 404 at Stony Brook University. GENETIC & DEVELOPMENTAL DISORDERS OF MUSCULOSKELETAL SYSTEM lecture # 3 Dr.Mahwish Niaz Pathology DOWN SYNDROME Most common congenita Muscular Dystrophy Association National Office. 161 N. Clark, Suite 3550. Chicago, Illinois 60601. 800-572-1717 | ResourceCenter@mdausa.or Duchenne muscular dystrophy (DMD) is the most common and most rapidly progressive muscular dystrophy, with most patients losing the ability to walk by 12 years of age and requiring ventilatory support by 25 years of age. Before the use of cardioprotective drugs and respiratory muscle aids, respir..

Muscular dystrophy - Symptoms and causes - Mayo Clini

Muscular dystrophy is a group of inherited diseases that damage and weaken your muscles over time. This damage and weakness is due to the lack of a protein called dystrophin, which is necessary. These disturbances however can be prominent in some cases. Muscular dystrophies are an heterogeneous group of disorders characterized by a progressive distruction of striated muscular fibers. The most common is the Duchenne Muscular Dystrophy (DMD), a sex-linked recessive disorder. The gene is localized on Xp21 Dystrophinopathies. Duchenne muscular dystrophy (DMD) is the most common inherited myopathy. The MRI pattern of DMD is among the most extensively studied, in part because of interest in using MRI as an outcome measure in clinical trials (See Duchenne Muscular Dystrophy Treatments in this issue). 20 The pattern of muscle involvement in Becker muscular dystrophy is similar, but the abnormalities.

Do you have PowerPoint slides to share? Time tested remedies of Ayurveda entirely regard as the complete formula for the physical, mental and spiritual health of human beings. They'll give your presentations a professional, memorable appearance - the kind of sophisticated look that today's audiences expect. It can also affect the heart muscles and other involuntary muscles, such as muscles in. About Press Copyright Contact us Creators Advertise Developers Terms Privacy Policy & Safety How YouTube works Test new features Press Copyright Contact us Creators. Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. The age of onset and rate of progression can vary. Muscle weakness usually becomes apparent between the ages of 5 and 15 DUCHENNE MUSCULAR DYSTROPHY • Dystrophin is a 427 kD protein that binds to the inner face of the surface membrane. • The protein has amino acid sequence similari-ties with alpha-actinin, an actin binding protein. • The protein links actin to the surface membrane and the basal lamina acting through dystrogly-can and merosin (alpha 2-laminin) Types of Mutations. Duchenne is caused by mutations (changes) within the dystrophin gene. A gene is made up of coding regions called exons, and the areas in between exons are called introns. Dystrophin has 79 exons, which makes it one of the largest genes in the body. Making the dystrophin protein from the gene involves several steps

Muscular dystrophy pathology Britannic

Types of Muscular Dystrophy and Neuromuscular Diseases

Duchenne muscular dystrophy (DMD) is a rare, X-linked condition with progressive muscle weakness and accompanying cardiomyopathy. Cardiovascular magnetic resonance (CMR) has proved particularly useful for monitoring the earliest signs of cardiac involvement in DMD, including left ventricular (LV) strain defects and myocardial fibrosis, which appear before the onset of LV systolic dysfunction Causes. The majority of muscular dystrophies are inherited; the different muscular dystrophies follow various inheritance patterns (X-linked, autosomal recessive or autosomal dominant).In a small percentage of patients, the disorder may have been caused by a de novo (spontaneous) mutation.. Diagnosis. The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased.

Respiratory management of the patient with Duchenne muscular dystrophy. Pediatrics , 142 (Suppl 2), S62-S71. Retrieved March 30, 2020, from https://pubmed.ncbi.nlm.nih.gov/30275250 Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat.

What is the pathophysiology of muscular dystrophy

  1. Muscular dystrophy is a group of over 30 conditions that lead to muscle weakness and degeneration. As the condition progresses, it becomes harder to move. In some cases, it can affect breathing.
  2. Definition / general. Inherited muscular dystrophy characterized by muscle weakness, myotonia and additional systemic manifestations including cardiac and neurologic. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are caused by differing nucleotide repeat expansions but have similar pathophysiologic mechanisms. DM1 is the.
  3. Pathology Terms Muscular System. Involuntary muscle contractions that will not relax. This hypertonicity of muscles most often results in trigger points or knots. A human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and a loss of muscle tissue
  4. Muscular dystrophies are genetically transmitted diseases characterized pathologically by degeneration and loss of myofibers and clinically by inexorably progressive weakness and, many of them, by elevated CK. The pattern of weakness, tempo of evolution, and mode of inheritance vary among different dystrophies. Over 30 genes causing muscular dystrophy are known presently

Central core myopathy: This is a hereditary myopathy, also called central core disease, that causes weakness, bone problems, and severe reactions to some medications.The severity of this disease varies, causing profound weakness among some people and only mild weakness in others.   Muscular dystrophy: This is a group of diseases caused by degeneration of the muscles or abnormally formed. However, many muscular disorders that present with hypotonia in the newborn or infancy period can only be diagnosed specifically using a muscle biopsy. Processing of the biopsy must include sophisticated electron microscopy and special staining - a 'routine' biopsy may miss significant pathology ( 7 ) Duchenne muscular dystrophy is caused by a mutation of the dystrophin gene whose protein product is responsible for the connection of muscle fibres to the extracellular matrix through a protein complex containing many subunits. The absence of dystrophin permits excess calcium to penetrate the sarcolemma ( cell membrane )

DEFINITION AND NOMENCLATURE. Limb-girdle muscular dystrophy (LGMD) is characterized by a predominantly proximal distribution of weakness. It includes a number of heterogeneous genetic disorders that vary in severity, phenotype, pathology, and age of onset, which ranges from childhood through adulthood [ 1,2 ] Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD varies among different ethnic populations. This study for the first time analyzed the phenotypes and genotypes in Taiwanese patients with LGMD in a referral center for neuromuscular diseases. Muscular dystrophy is an inherited disorder, which is often characterized by a progressive type of muscular degeneration and weakness. There are several types of muscular dystrophy, wherein each type eventually leads to an increased disability, strength loss, and potential deformities. It greatly affects the muscles and causes skeletal and. Muscular dystrophy (MD): MD is a group of inherited muscle diseases. These conditions all cause muscle loss and weakness. Some appear in infancy or childhood, and others may not appear until middle age or even later. Symptoms are specific to the type of MD and vary based on the muscle groups and people they affect. All forms grow worse with.

Muscular dystrophies (MDs) such as Duchenne muscular dystrophy (DMD), sarcoglycanopathy (Sgpy) and dysferlinopathy (Dysfy) are recessive genetic neuromuscular diseases that display muscle degeneration. Although these MDs have comparable endpoints of muscle pathology, the onset, severity and the course of these diseases are diverse. Different mechanisms downstream of genetic mutations might. Definition. Muscular dystrophy is defined as muscle disease featuring degeneration and regeneration of muscle with fibrosis and fatty replacement. Historically, cases that did not fit other, better-defined disorders were labeled. Limb-Girdle Muscular Dystrophy (LGMD), specifically to be distinguished from the more common X-linked Becker and.

Pathophysiology of duchenne muscular dystrophy: current

The muscular dystrophies (MDs) are a heterogeneous group of disorders caused by mutations in any one of a large number of genes ().Since almost all types of muscular dystrophy arise from single-gene mutations, genetic therapy, involving replacement or modification of a gene, has emerged as a promising approach for treatment Detect MD provides sponsored genetic testing for patients suspected of having MD. Genetic testing can be crucial to finding a diagnosis

Speaking Muscular Dystrophy: Glossary Terms for Symptoms

Muscular Dystrophy: Practice Essentials, Pathophysiology

Chronic Neurogenic Atrophy (ATPase Reaction) Fiber type grouping Frozen Section from a Patient with Duchenne Muscular Dystrophy Opaque or hyaline fibers (arrows) Increase in endomysial connective tissue Normal Immunohistochemical Stain for Dystrophin (Subsarcolemmal Staining) Duchenne Muscular Dystrophy (Absent Staining for Dystrophin) Becker. the most severe congenital muscular dystrophy syndrom. Symptoms and signs are already present at birth, children often die within the first 12 months and rarely live longer than 5 year. Clinical Presentation: profound muscular hypotonia at birth (''floppy newborn''), epileptic seizures Which of the following is the term used to describe a swollen optic disk due to pathology? Papilledema. Internuclearopthalmoplegia. Duchenne's muscular dystrophy. ALS. Brown Sequard lesion. PowerPoint Presentatio Duchenne muscular dystrophy (DMD) is a severe, progressive disease that affects 1 in 3600-6000 live male births. Although guidelines are available for various aspects of DMD, comprehensive clinical care recommendations do not exist. The US Centers for Disease Control and Prevention selected 84 clinicians to develop care recommendation

View Pathology 2.1 - Genetic and Pediatric Diseases.ppt from HSC 381 at Cleveland State University. Genetic and Pediatric Diseases All diseases involve some changes in gene structure or expression - Study Resources. Main Menu; Duchenne muscular dystrophy 12 Myotonic muscular dystrophy, also called dystrophia myotonica, is sometimes called Steinert' s disease after the author who gave a full and detailed description of the disorder in 1909 (8). It is a slowly progressive disorder, inherited as an autosomal dominant, that clearly differs from the other forms of muscular dystrophies

Duchenne Muscular Dystrophy - Physiopedi

Distal muscular dystrophy. In this muscular dystrophy, weakness is mainly distal. The disorder can be divided into two main groups: late onset (over 40 years of age) with autosomal dominant inheritance, including Welander's disease; and early onset (less than 30 years of age) with autosomal recessive inheritance Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac and respiratory muscle involvement vary. Muscle disease, any of the diseases and disorders that affect the human muscle system. Because muscles and neurons supplying muscle cells operate as functional units, disease of both systems can result in muscular atrophy and paralysis. Learn about the types, causes, and treatment of muscle disease Muscular dystrophy is a group of diseases that make muscles weaker and less flexible over time. It is caused by a problem in the genes that control how the body keeps muscles healthy. For some. Myotonic dystrophy. As with other types of muscular dystrophy, myotonic dystrophy involves progressive muscle weakness and muscle wasting. However, it's often the smaller muscles that are affected first, such as those in the face, jaw and neck. Myotonic dystrophy can appear at any time between birth and old age

Pathophysiology of Duchenne Muscular Dystrophy: Current

Author summary Duchenne muscular dystrophy (DMD) is a devastating muscle disease affecting one in 5,000 newborn males, in which the gene encoding the dystrophin protein is mutated. It is a progressive muscle degenerative disease with death by either respiratory insufficiency or cardiac failure in their 20s. Recently, the vasculature has also shown to be perturbed in DMD and DMD model mdx mice. Injury or overuse, such as sprains or strains, cramps or tendinitis. A genetic disorder, such as muscular dystrophy. Some cancers. Inflammation, such as myositis. Diseases of nerves that affect muscles. Infections. Certain medicines. Sometimes the cause of muscle disorders is unknown

The following pathology lectures cover the content of an introductory medical school course in pathology. They are up-to-date, but are no substitute for your own doctor's advice! Duchenne and Becker Muscular dystrophy. Myotonic dystrophy. Facioscapulohumoral dystrophy. Kugelberg-Welander. Charcot- Marie-Tooth. Werdnig-Hoffman The Center provides a neuromuscular clinic, an electrodiagnostic service and a clinical laboratory. Includes detailed information on neuromuscular diseases and syndromes

Medical Surgical Nursing. Myotonic dystrophy (DM) is a form of muscular dystrophy that affects muscles and many other organs in the body. A comprehensive database of more than 99 pathology quizzes online, test your knowledge with pathology quiz questions. Hypocalcemia is a condition in which there are lower-than-average calcium levels in the body Strategic Partnerships. Sarepta looks for the best and brightest partners to help us transform 21st century healthcare. We have a long history of collaborative strategic partnerships with top institutions and companies from around the world—all in service to accelerate our mission to rescue lives otherwise impacted or stolen by rare disease

Duchenne Muscular Dystrophy Nervous Syste

In contrast, Duchenne muscular dystrophy generally exhibits high serum creatine kinase levels with severe pathology in many muscles (Grounds et al, 2020). This is accompanied by 24-47% regenerating fibres in young boys (Decary et al , 2000 ; Janghra et al , 2016 ; Scaglioni et al , 2020 ), compared to ~ 1% in healthy growing boys (Scaglioni. LAMA2-related muscular dystrophy (LAMA2 MD) is the most common and fatal form of early-onset congenital muscular dystrophies. Due to the large size of the laminin α2 cDNA and heterotrimeric structure of the protein, it is challenging to develop a gene-replacement therapy. Our group has developed a novel adeno-associated viral (AAV) vector carrying the mini-agrin, which is a non-homologous. DNA is short for deoxyribonucleic (dee-oxy-rye-bo-new-clay-ick) acid.It is found in nearly every cell in our body, and carries all of our genetic information. A length or section of DNA is called a gene.Each gene is made up of smaller parts called introns and exons.When the body needs to make a protein, instructions in the DNA are given to a similar molecule called RNA, or ribonucleic (rye-bo. The LGMD 2A program is being led by Zarife Sahenk, MD, PhD, an attending neurologist at Nationwide Children's, Director of Clinical and Experimental Neuromuscular Pathology at The Research Institute at Nationwide Children's and Professor of Pediatrics, Pathology and Neurology at The Ohio State University College of Medicine


Introducing pathology of Muscle / Nerve biopsy and beyond Neuropathology tests offered at I-NK Cost Nature of specimen Muscle biopsy with enzyme histochemistry • Muscular dystrophy • Inflammatory myopathies • Congenital myopathies • Mitochondrial myopathies • Glycogen and lipid storage myopathies Immunohistochemistry for muscle biops What Is Duchenne Muscular Dystrophy? Muscular dystrophies are a group of diseases that make muscles weaker and less flexible over time. Duchenne muscular dystrophy (DMD) is the most common type. While muscular dystrophy is a progressive condition that may result in other health issues, our doctors can provide outstanding multidisciplinary care. For most other cases of congenital and hereditary orthopedic disorders, our team has the expertise and resources to provide care that will allow children to resume full, active lives following. Spinal Muscular Atrophy. Spinal Muscular Atrophy is a common genetic disease caused by an autosomal recessive mutation in the survival motor neuron gene. The condition presents with progressive motor weakness, scoliosis, hip dislocations, and lower extremity contractures. Diagnosis is made by DNA analysis and muscle biopsy None Immunological and inflammatory processes downstream of dystrophin deficiency as well as metabolic abnormalities, defective autophagy, and loss of regenerative capacity all contribute to muscle pathology in Duchenne muscular dystrophy (DMD). These downstream cascades offer potential avenues for pharmacological intervention. Modulating the inflammatory response and inducing immunological.

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