...Clinical and pathologic aspects of congenital myopathies Ikuya NONAKA MD National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan Abstract The term “congenital myopathy” is applied to muscle disorders presenting in infancy with generalized muscle weakness and hypotonia followed by delayed developmental milestones. The myopathy has been differentiated diagnostically on the basis of their morphologic characteristics and includes nemaline myopathy, central core disease, myotubular (centronuclear) myopathy and congenital fiber type disproportion. In most of these disorders, there are 3 distinct subtypes: severe infantile, benign congenital and adult onset forms. The mode of inheritance and gene loci are variable, although each disorder shares the common clinical features including facial and prominent neck flexor weakness and preferential respiratory muscle involvement. All mutations identified in nemaline myopathy are localized to the actin filament components, suggesting that the disease is related to sarcoplasmic thin filaments or Z-protein abnormalities. On the other hand, X-linked myotubular myopathy has mutations in a family of tyrosine phosphatase (myotubularin gene) and central core disease in ryanodine receptor gene. In all these disorders, the common pathologic features are small muscle fibers with type 1 fiber atrophy and predominance, which account for the small muscle bulk and generalized muscle weakness. INTRODUCTION NEMALINE MYOPATHY The term congenital...
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...oggy1962 first attempt 1.1 The four basic human body structures and their units are cells, tissues, organs and systems. Cells – these are the smallest independent unit in the human body and can only be seen with a microscope. There are many different types, shapes and sizes. Each type is specialised and carries out a particular function in the body. The types of cells include epithelial cells (the skin), muscle cells, nerve cells, bone cells and blood cells. Every cell has a nucleus, (except red blood cells), a cell membrane and cytoplasm. The nucleus contains the body’s genetic material; this directs all the metabolic activities of the cell. The cell membrane is semi-permeable and surrounds the cytoplasm. Its function is to protect the interior of the cell by allowing certain substances in and keeping others out. The cytoplasm is a gel like substance in which organelles are suspended. These include ribosomes, lysosomes, endoplasmic reticulum, golgi apparatus, mitrochondria, and centrioles. The organelles each have different functions within the cell. Tissues – a group of cells is known as a tissue. Different types of tissues are found in different organs. Humans have four different types of tissue: Epithelial tissue – this covers the body surface. The major functions are protection, secretion, absorption and filtration. Connective tissue – this is the most abundant tissue in the body. It binds structures together and forms a framework and support for organs. It...
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...Bodybuilding Anaerobic Exercise & Respiration, Muscular Growth and Supplement Intake Ajay Sabhaney, Carlen Ng, Di Wu, Kelei Xu Bodybuilding Page 1 of 59 Table of Contents 1. Introduction 2. The Body & Muscle Groups a. Muscle Growth b. Physical & Psychological Benefits of Exercising 3. Weight Training: Anaerobic Exercise Mechanics & Impact on Muscle Growth a. Energy Transformations During an Exercise b. Investigating Torque in Weight Training c. Muscles Acting as Levers d. Impulse in Weight Training e. Intensity versus Speed 4. Protein Supplementation a. Protein supplementation b. Combining Protein Supplementation 5. Cellular Respiration & Effect on Weight Training a. Glycolysis b. Aerobic Respiration c. Anaerobic Respiration (inc. lactic acid) d. Carbohydrate Loading 6. Creatine Supplementation a. An Introduction b. Lab: Effect of Phosphocreatine on Lactic Acid 7. Anabolic-Androgenic Steroids a. Reactions within the Body involving steroids b. Side Effects of Steroid Intake c. Detecting Steroids in the Human Body 8. Conclusion 9. Works Cited 10. Miscellaneous Bodybuilding Page 2 of 59 I. Introduction Exercise (essentially any form of physical exertion which results in the contraction of a muscle) has become a widespread interest over the past several years, especially in areas of weight training. While exercise is generally intended to promote good physical health, bodybuilding more specifically concentrates on building muscle mass and many individuals in society...
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...Introduction The genus Trichinella has undergone revision, due to the advent of reliable DNA probes that can be used to distinguish the various species that have been recently described.1, 2 There are 8 recognized genotypes (two are provisional).3 Members of the genus Trichinella are able to infect a broad spectrum of mammalian hosts, making them one of the world’s most widely-distributed group of nematode infections. Trichinella spp. are genetically related to Trichuris trichiura and Capillaria spp; all belong to the family Trichurata. These roundworms constitute an unusual group of organisms in the phylum Nematoda, in that they all live a part of their lives as intracellular parasites. | The diseases that Trichinella spp. cause are collectively referred to as trichinellosis. Currently, prevalence of trichinellosis is low within the United States, occurring mostly as scattered outbreaks,4 and the majority of human cases are due to Trichinella spiralis and T. murrelli. The domestic pig is the main reservoir host for T. spiralis. This species is significantly higher in prevalence in people living in certain parts of Europe, Asia, and Southeast Asia than in the United States. It is now considered endemic in Japan and China. A large outbreak of trichinellosis occurred in Lebanon in 1997, infecting over 200 people.5 Trichinella spiralis infection in humans has been reported from Korea for the first time.6 In contrast, trichinella infections in wildlife within the United States are...
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...Media: Mirror of Society Everywhere in the world, society keeps evolving and changing. The thoughts, mindsets, and ideas of cultures all over the world are constantly changing due to the influences of what they see. The media has always had a role in the construction of an individual’s body image and ideal self. In the article “How does the media influence our thoughts on body image?” Kayhan, Baig, Mehmi and Basra argue that during the early 20th century the ideal, beautiful woman was 5’4 tall and about 140 pounds with a small mid-section; yet, for some if not most women, in order to achieve a small waist they would be put into a Victorian hourglass corset, which shrunk the woman’s waist to a much smaller size, we still see these tactics used by today’s women. This issue isn’t only occurring in the United States, it is a worldwide problem that continues to grow. The media uses the social elite, such as athletes and actresses, to advertise products and goods; the use of these models can have significant outcomes, both negative and positive, on individuals in our society. The positive being that viewers of these magazines that advertise skinny models and fit athletes may be influenced to change their lifestyle from unhealthy to healthy. The negative being that viewer’s want to take the quickest and easiest ways in order to achieve results, which can lead to dangerous side effects and habits. So the question is, is it even worth it to try to look perfect if dangerous methods...
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...deficiency. Another important sign of the deficiency of calcium in the body is insomnia. In many cases, people who do not consume enough calcium in their diet suffer from loss of sleep. In certain cases, it is seen that a person, due to calcium deficiency, may fall asleep, but will not have a satisfactory or deep sleep. Calcium is also an important constituent for our teeth. Thus, deficiency of calcium in the body affects the teeth as well. Tooth decay is another sign of calcium deficiency in the body. Due to calcium deficiency in childhood, there may be delay in the initial start of tooth formation. Calcium deficiency results in poor bone density. This can be quite a serious condition for children as it may lead to easy fractures, muscular aches, and spasms, and – in extreme cases – rickets. Our nails also require calcium in adequate amounts to grow healthy and remain strong. Weak and brittle nails are another important sign of calcium deficiency in the body. Late signs of puberty in the case of adolescent females are also a sign of calcium deficiency. Apart from delayed puberty in teens, other menstruation related problems are also signs of deficiency of calcium in the body. Many teens suffer from premenstrual cramps due to the deficiency of calcium. Calcium, being an essential component in the body, shows its presence throughout the body. Any individual, on noticing brittle nails, muscle cramps, and rough...
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...Muscular System Muscular System The body's involuntary muscles work our internal organs. They are outside our control. Voluntary muscles make the body move. They are attached to the skeleton and can be controlled. Triceps: There located at the back of the arm. The function of the triceps is extension at the arm. An example of its movement in sport is when you do a press up or thrown a javelin. When the triceps contract, producing flexion, the biceps ONLY relax and do nothing. Biceps and triceps are antagonistic pairs – as the triceps contract it’s known as the prime mover and the muscle that relaxes (biceps) is called the antagonist. Biceps: There located at the front of the upper arm. The function of the biceps is flexion at the elbow. An example of its movement in sport is doing a push up or drawing back the bow in archery. When the biceps contract it’s called the prime mover and the triceps must relax. Deltoids: They are located at the front of the upper shoulder. The function of the deltoids is rotation at the shoulder in all directions. An example of its movement in a sport is when the bowl a cricket ball. Deltoids and Trapezius are antagonistic pairs and as the bowler bowls the ball, the deltoids will contract making it the prime mover and the trapezius will only relax. Pectorals: They are located at the front of the upper chest. The function of the pectorals is to adduct the arm at the shoulder. An example of its movement in a sport is when you do a forehand drive...
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...BIOL 2010 LEARNING OBJECTIVES 1. 1.1. 1.2. 1.3. 1.4. 1.5. 1.6. 1.7. 2. 2.1. 2.2. 2.3. 2.4. 2.5. 2.6. 2.7. 2.8. 2.9. 2.10. 2.11. 2.12. 2.13. 2.14. 2.15. 2.16. 2.17. 2.18. 2.19. 2.20. 2.21. Describe the physical organization of the human body and explain how interaction between body components is critical for the maintenance of homeostasis. Define the terms anatomy and physiology in reference to the human body. (LECT & LAB) Describe each of the following levels of organization of the human body: chemical, cellular, tissue, system, organism. (LECT & LAB) Identify the principal systems of the body. (LECT & LAB) Describe the standard anatomical position of the human body. (LECT & LAB) Compare common anatomical terms used to describe the various regions of the human body. (LECT & LAB) List by name and location the principal body cavities. (LECT & LAB) Define homeostasis and explain the effects of the lack of homeostasis on the body's function. (LECT & LAB) Describe the chemical level of organization of the human body. Describe the interrelationship of matter, elements, and atoms. (LECT) Identify by name and symbol the principal elements of the human body. (LECT) Diagram and label the structure of a typical atom. (LECT) Describe the function of electrons located in incomplete outer energy levels. (LECT) Define the terms isotope and radioisotope and give their functions. (LECT) Describe the three types of chemical bonding (ionic...
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...Muscular System The muscular system is made up muscles, joints, tendons, bones, ligaments and connective tissue that help to support the body’s internal organs. They work together to perform a variety of functions. These include; stability, posture, motion, heat, circulation and digestion within the body. Essentially the muscular system provides power for movement of all body parts. It is the muscles within our body which provide us with movement via contractions and without this vital system life would completely stop. Stability and posture Our skeletal muscles attach to our bones through tendons where bones act as levers. This causes our muscles to contract, relax, effectively it controls the bone. Muscles also provide strength for stability and posture by allowing the bones to align properly. If muscles are too tight or loose then this causes the bones to become misaligned which creates poor posture. Skeletal muscles can be stretched or strengthened to support the bone correctly, allowing maximal stability. Finally, skeletal muscles are also important for providing the body with balance and coordination which is also important because they aid fluid body movement for physical skill performance which is key when taking part in sport. Good balance and coordination also improves posture and prevents injury because you will have good postural responses to a stimulus e.g putting your hands in front of your face to protect yourself. http://www.childdevelopment.com.au/home/90 ...
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...and eat protein within a certain “anabolic window” after exercise. It is speculated that this myth was perpetuated by the supplement companies of the 90s trying to boost protein sales. Open any fitness magazine and one will see multiple advertisements on protein powder urging the consumer to constantly ingest protein to look like the bodybuilder in the ad. There are protein powders for the morning, for directly after a workout, and even “slow-acting” protein to ingest pre-bed. These are all barely legal marketing attempts based on nothing. “Protein timing is a popular dietary strategy designed to optimize the adaptive response to exercise. The strategy involves consuming protein in and around a training session in an effort to facilitate muscular repair and remodeling, and thereby enhance post-exercise strength- and hypertrophy-related adaptations. Despite the apparent biological plausibility of the strategy, however, the effectiveness of protein timing in chronic training studies...
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...Cell Theory Cell Theory is a way to describe the biology of living things. Cell theory says that the cell is the basic unit of life. Cells by themselves are alive, but they can also be part of a larger living thing. The smallest living organisms (like bacteria but not viruses) and the biggest ones (like humans and whales) are all made of cells. Very small organisms like bacteria and amoebas are only made of one cell each, so they are called unicellular organisms ("uni" means "one"). Larger organisms are made of many cells, and they are called multicellular organisms. Definition: The Cell Theory is one of the basic principles of Biology. Credit for the formulation of this theory is given to German scientists Theodor Schwann, Matthias Schleiden, and Rudolph Virchow. The Cell Theory states: * All living organisms are composed of cells. They may be unicellular or multicellular. * The cell is the basic unit of life. * Cells arise from pre-existing cells. The modern version of the Cell Theory includes the ideas that: * Energy flow occurs within cells. * Heredity information (DNA) is passed on from cell to cell. * All cells have the same basic chemical composition. Animal Tissues 1. Epithelial: In Greek, ἐπί (epi) means "on" or "upon", and θηλή (thēlē) means "nipple". Epithelial layers are avascular, so they must receive nourishment via diffusion of substances from the underlying connective tissue, through the basement membrane. Epithelia...
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...Movement requires body mechanics uses -body mechanics = coordinated efforts of the musculoskeletal and nervous system -Alignment and balance= posture Mobility= ability to move about freely Immobility: inability to move about freely Bed Rest: an intervention that restricts clients for therapeutic reasons Activity includes many of our bodies systems -Skeletal system * Supports the soft tissue of the body * Protects crucial components of body * Furnishing surfaces for the attachments of muscle, tendons and ligaments * Provides storage areas for minerals and fat * Produces blood cells -Muscular system * Motion skeletal muscle contraction pull up on tendons move bones create movments * Maintenance of posture skeletal muscles contractions hold body in stationary position * Support skeletal muscle support soft tissue in abdominal and floor of pelvic cavity * Heat production skeletal muscles contractions produce heat 1. Skeletal muscle -works with tendons and bones to move body -produce movement by contraction of its cells 2. Cardiac muscle 3. Smooth/visceral muscle Nerve system Nerve impuleses stimulus causes muscles to contract Moblity and the body systems * Cardiovascular system -exercise increase efficiency of heart -decrease bp and hr - increase blood flow to all body parts -increase fribogen-> breaks small clots -respiratory system and cardiac system work together to provide o2 To all part of body ...
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...Unit 2 the muscular system The muscular system is responsible for the movement of the human body. Attached to the bones of the skeletal system are about 700 named muscles and takes up half of a person’s body weight .Each of these muscles is an organ constructed of skeletal muscle tissue, blood vessels, tendons, and nerves. Muscle tissue is also found inside of the heart, digestive organs, and blood vessels. Humans have three types of muscle skeletal, cardiac and smooth muscles. Muscle types Cardiac muscles are involuntary muscles because they work our internal organs. They are outside our control. Cardiac muscle is highly resistant to fatigue due to the presence of a large number of mitochondria, Voluntary muscles make the body move. They are attached to the skeleton and can be controlled. Voluntary muscles have fast twitch and slow twitch fibres. Fast twitch fibres contract quickly, but do not use oxygen well and tire quickly. Slow twitch fibres contract slowly, but use oxygen well and keep going for a long time. Top sprinters have more 'fast twitch' fibres. Endurance athletes tend to have more 'slow twitch' fibres. Each voluntary muscle is made up of muscle cells. These cells are fused together into fibres that run the entire length of the muscle. Two types of fibres, a thick fibre, known as myosin and a thin fibre, known as actin, work within a voluntary muscle. Smooth muscle is also sometimes known as involuntary muscle due to our inability to control its movement...
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...Are steroids the way to go? What comes to mind, when you vision an extremely broad man with bulging muscles. Steroids are an easier way to get stronger, it helps build muscles promptly. This makes getting muscles quicker and not having to put in much effort. Steroid use can cause huge muscles, but could have awful health effects in the long. Some effects are heart failure and liver cancer. Finally, how steroids were used then and how they are used now. There are positives and negatives to using steroids. People that use steroids can get muscles with no trouble and don’t have to work as hard as someone that didn’t take them. On the downside, steroids can cause heart failure and hair loss. “Steroids promote cell growth and division, and thus can be used in training to help grow muscles quicker and easier than might be expected.” (Steroids) This allows the user to gain a boost in muscle growth when working out. This makes working out show results in a more noticeable time range. Many americans take these steroids says the Drug Enforcement Administration. “The National Institute on Drug Abuse (NIDA) estimates that more than a half million 8th and 10th grade students are now using these dangerous drugs, and increasing numbers of high school seniors don’t believe steroids are risky. Another study indicated that 1,084,000 Americans, or 0.5 percent of the adult population, said that they had used anabolic steroids.” (DEA) This shows how many people admitted to using Anabolic steroids...
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...a series of imaginary lines to describe direction of movement (longitudinal, horizontal, antero-posterior) * Skeleton- made of 206 bones (300 at birth), used for structure, protection, and support * Axial Skelton- 80 bones; comprised of areas close to the trunk of the body * Appendicular Skeleton- 126 bones; the appendages * Muscle Tissue- collection of cells that shorten during contraction, resulting in movement * Skeletal Muscle- Attached to bones by tendons or other tissues; striated; voluntary * Cardiac Muscle- muscle of the heart ;striated; involuntary * Smooth Muscle- remains contracted for longer period of time; contracts slowly; involuntary * Neuromuscular System- the complex linkages between muscular and nervous systems * Muscle Twitch- A single nervous impulse and the resulting contraction * Motor Unit- the collaboration of the muscle fibers working together * Neuromuscular junctions- nerves that transmit the messages directing the muscle to move that come into contact with muscles at that specific point. * All or None Principle- The motor unit contracts to its 100% potential, or not at all * Concentric Muscle Contraction- When muscle fibres shorten (shortening) * Eccentric Muscle Contraction- When muscle fibres lengthen (lengthening) * Isometric Muscle Contraction- when muscle fibres don’t change in length (static) * Isotonic Exercise- controlled shortening and lengthening of...
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