...Ehlers-Danlos syndrome (Stretchy Skin Disease) Ehlers-Danlos Syndrome, also known as Stretchy Skin Disease is a connective tissue disorder that is inherited. There are several types of Ehlers-Danlos syndrome ranging from mild to life threatening (Ehlers-Danlos syndrome, 2006). According to NCBI, this disease is characterized by hyperextensibility of the skin, joint hypermobility, weakness of tissue, and rupture in arteries. People with this disease have a deficiency in collagen causing the skin, muscles and joints to not hold firm. Signs & Symptoms * Double-Jointedness, joint popping, joint dislocation, congenital hip dislocation * Easily damaged, bruised or stretchy skin, poor wound healing * Chronic joint pain * Very soft and velvety skin, very stretchy skin, fragile * Vision problems, deformed surface of the eye, crossed eyes * Weak internal organs Most Ehlers-Danlos syndrome types affect the joint tissue and skin; a couple other types affect the same, including fragile blood vessels that affecting the internal organs. Complications * Premature rupture of membranes, rupture of intestines, uterus or eyeballs * Periodontitis * Mitral valve prolapse * Failure of surgical wounds properly healing * Early-onset arthritis Treatment/Maintenance Currently there is no cure for Ehlers-Danlos syndrome, only management. It is important that each person establish a network of clinical physicians who are very familiar with the...
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...I bleed into the line. I honestly thought the PA did something incorrect. However, it happened again with my second treatment. Then I began bleeding at home. About two weeks ago I found a graphic that talked about bruising with Ehlers- Danlos Syndrome. The light blub when off. I asked around if an individual could bleed with it and they can. "Ehlers- Danlos Syndrome is a collection of inherited conditions that fit into a larger group, known as heritable disorders of connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs, and bones. Ehlers-Danlos Syndrome is known or thought to alter the biology of collagen in the body (the most abundant protein), which can lead to multi-systemic symptoms." The main types of EDS are as follows Hypermobility, Classical, Vascular, Kyhoscoliosis, Arthrochalasia, and Dermatosparaxi. I e-mailed my one doctor who to my surprise agreed that this is an excellent theory to explain the missing puzzle piece. Unfortunately, I won't know for certain until March, which is when I see the...
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...Marfan syndrome is a heredity disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardio defects, because connective tissue is found through the body, Marfan syndrome can affect many different parts of the body. This disorder is usually found in the heart, blood vessels, bones, joints, and eyes. This syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1. This is a protein that is an important part of connective tissues. Someone whom is born with Marfan syndrome is may not show signs or symptoms till later in life (Little). Some of the traits that are found in someone who has Marfan syndrome are: a tall and slender build, long arms, legs, finger, and toes that are all disproportionate, check that either dips in or protrudes outward, crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine, and flat feet (Lu). According to the National Marfan Foundation, 1 in every 5,000-7,000 babies born will be a child born with Marfan syndrome. Seventy-five percent of people with Marfan syndrome will more than likely have an affected parent. Some of the treatments for Marfan syndrome include: surgery, medicines, and heart treatments. Beta blockers is a medicine that is used to help your heart beat slower with less force, and this is one of the medicines that are commonly used to help someone who had Marfan syndrome. This syndrome can cause you aorta to stretch, and...
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...Table 1 shows the different disorders that may overlap with Marfan Syndrome because of their clinical features. It is therefore important that all these clinical manifestations are ruled out before diagnosing an individual of a potential disorder. A disorder that overlaps mostly with the many features of the Marfan syndrome is Loeys-Dietz syndrome (LDS) as a result of mutations in TGFBR2, TGFBR1, SMAD3 and TGFB2.4 Patients with LDS present with malar hypoplasia, arched palate, scoliosis, dural ectasia, aortia aneurysms and dissections.2 Although they have long finger, bone overgrowth is often absent and does not show ectopia lentis.2 Distinctive features include high frequency hypertelorism learning disability, congenital heart disease and...
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...is why it is also referred to as Barlow’s Syndrome. Mitral valve prolapse, or MVP, is defined as a valvular heart disorder in which one or both mitral valve flaps close incompletely during systole usually producing either a click or murmur and sometimes produces minor mitral regurgitation. Both the anterior and posterior leaflets are composed of three layers of tissue: the atrialis, fibrosa, and spongiosa. Patients with classic mitral valve prolapse have excess connective tissue that thickens the spongiosa and separates collagen bundles in the fibrosa. This weakens the leaflets and adjacent tissue, resulting in increased leaflet area and elongation of the chordae tendineae. Although mitral valve prolapse is a lifelong disorder, many people with this condition never have symptoms. When diagnosed, people may be surprised to learn that they have a heart condition. When signs and symptoms do occur, it's typically because of mitral regurgitation. Mitral valve prolapse symptoms can vary widely from one person to another. They tend to be mild, develop gradually and may include arrhythmia, dizziness or lightheadedness, difficulty breathing or shortness of breath, often when lying flat or during physical activity, fatigue, coughing, and chest pain that’s not caused by a heart attack or coronary artery disease. Mitral valve prolapse often runs in families and can be linked to other conditions such as Marfan syndrome, Ehlers-Danlos syndrome, adult polycystic kidney disease, Ebstein’s...
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...The term dysautonomia is one that is not commonly known among most people. Dysautonomia is a malfunction of the autonomic nervous system. When we refer to the autonomic nervous system we are referring to the basic body functions more people don’t think about on the daily bases, for example; heartbeat, blood pressure and body temperature. Dysautonomia can be a secondary condition, meaning it could be caused by a pre-existing condition, such as Ehlers Danlos Syndrome or Parkinson's. Although it doesn't have to be a second hand disorder it can be primary. Dysautonomia is the most common medical condition that is unheard of, with an estimated 500,000-1,000,000 people in the United States alone suffering from POTS. That is not even counting all the other forms of dysautonomia such as Neurocardiogenic Syncope (NCS),Neurally Mediated Hypotension (NMH), Post-Viral Dysautonomia, and more. This is why i want to bring attention to this disorder. With as many people as it affects it deserves to be heard of....
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...thoracic aneurysm already in existence, disorders that affect connective tissue, such as Turner’s syndrome, Ehlers-Danlos syndrome and Marfan’s disease, bicuspid aortic valve, a condition in which only two leaf-shaped flaps are found at the end of the aortic valve instead of three, degeneration of the aortic wall known as cystic medial disease, and trauma to the thoracic region such as in a motor vehicle accident or fall (floridahospital.com, 2017). Pathophysiology Aortic dissection fundamentally structures a tear in the intimal layer, shadowed by the formation and propagation of a subintimal hematoma. The dissecting hematoma usually inhabits up to 50% and, infrequently, 100% of the aortic circumference, leading to the growth of a false lumen or double-barreled aorta. This can lessen the movement of blood to any of the major arteries ascending from the aorta. If the dissection includes the pericardial space, cardiac tamponade can result. The normal aorta contains collagen, elastin, and smooth muscle cells, which assistance donate to the layers of the aorta, the intima, the media, and the adventitia. Degenerative changes associated with aging lead to the interruption of the collagen, elastin, and smooth muscle, as well as to an upsurge in basophilic ground substance. This is called cystic medial necrosis, the hallmark histologic change related with dissection and with Marfan syndrome. Any disease that deteriorates the strength of the aortic wall will predispose one to aortic dissection...
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...support connective tissues in the body, including bones, tendons, skin, cartilage, etc. It is secreted and produced mostly by osteoblasts and fibroblasts. A shortage of type 1 collagen or mutations in either the alpha 1 or 2 chains constituents causes disease. Missing or low presence of α-1 chain produces a reduced amount of type 1 collagen, the shortage of this protein causes the bone to be fragile which leads to Osteogenesis imperfecta type 1 disease. Also, the mutation in the alpha chains disrupts the normal combination of type 1 collagen fibrils and alters the assembly of different collagen molecules forming a ribbon-like fibrils that lacks the tensile strength to keep the skin from become too stretchy, as a result a disease called Ehlers-Danlos syndrome. Low alpha chain amounts, abnormal triple helix shape leads to abnormal type 1 collagen which disrupts the assembling of other collagens which results to...
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...Cells, Tissues and Body Systems P2 Nervous Tissue A number of components make up the nervous system and these are also composed of the nervous tissue. The nervous tissue performs an imperative part in the fact that it is in charge for accepting, distributing and handling sensory input. It can be found in the three main areas of the nervous system which are the brain, nerves and the spinal cord. The nervous system contains two significant parts which are defined as peripheral and central. The peripheral nervous system (PNS) includes the nerves that spread to all ends of the body and the central nervous system (CNS) consists of the spinal cord and the brain where it acts as the fundamental processing interior for all stimuli. Neurons are the specialised basic elements that work inside the nervous tissue. The functional and structural organisation of neurons can be described by elements such as an axon. This transmits information to different neurons, muscles and glands and is usually made from a nerve fibre which is a single process expanding from the cell body of a neuron and carrying nerve impulses away from it. Dendrites carry nerve impulses from adjacent neurons into the cell body and are one of the shorter branching processes of the cell body of a neuron. A motor neuron transmits electrical signals for communication within the body from the central nervous system to the brain and the spinal cord, to muscles and glands elsewhere in the body. The synapse causes...
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... * Metabolic imbalance (K, Ca, Mg, hypoxia, hypercapnia, acidosis, thyroid disease, phaeochromocytoma). * Tests: * Bloods: FBC, U&E, glucose, Ca, Mg, TSH. * ECG: look for signs of IHD, AF, short P-R interval, long QT interval, U waves. * If ECG normal consider doing 24 hour tape. * Echo: look for structural heart disease. * Others: exercise ECG, cardiac catheterisation etc. * Types of Arrhythmias: * Bradycardias: * If asymptomatic and rate >40bpm then no treatment. * Look for cause and stop any drugs that may be the cause or contributing. * If rate <40bpm and patient’s symptomatic give atropine (consider external pacemaker). * Sick Sinus Syndrome: * SAN dysfunction – causing bradycardia with possible arrest; or SAN block; or superventricular tachycardia alternating with bradycardia/asystole. * Superventricular Tachycardia (aka Narrow Complex): * Narrow...
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...By Yasmina Reza A Teacher’s Guide Table of Contents Audience Etiquette………………………………….……………….…3 Characters……………………………………….……………………...4 Synopsis………………………………...…………………………….…4 The Source...…...……….……..………..……………………………….6 The Playwright………..………….....……………..……………………7 Glossary of Words……………..……………………………………….8 Follow-up Considerations……………………………………………10 Internet Resources……………….……………………………………12 The Alley salutes its 2001-2002 Education & Community Outreach Season Co-Sponsors: its Student Matinee Sponsor: its Production Co-Sponsors: and Large Stage Season Sponsor: 2 Audience Etiquette For many of your students, a visit to the Alley may be their first theatre experience. It may be helpful to discuss what they can expect or to have other students relay their own experiences about theatre productions they have seen. Another important point to review is the difference between live theatre and watching a movie or television. Noise Live theatre means live actors who can hear not only what is happening on the stage, but in the audience as well. While laughter and applause at appropriate times are appreciated by the actors, excessive noise and talking is not. Any sort of distracting noise—humming, sighing, chewing gum, or carrying electronic devices—is discouraged. Cell phones, chiming watches and pagers must be turned off during the performance . Applause Applause is used to acknowledge the performers and to voice appreciation or approval. Traditionally, applause comes...
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