...Mitochondrial myopathies are a group of diseases and not just one particular disease. However, all these diseases affect only one thing in our body. This one thing is the mitochondria. Those who have studied human genetics or similar sciences, know that mitochondria are present in all our nerve cells and deal with the functions our muscles. These mitochondria are what provide energy to our cells which in turn help in movement of muscles et al. If these mitochondrial problems affect only the muscles, the disease is known as a mitochondrial myopathy, where myo stands for muscle and pathos stands for disease. On the other hand, if they affect both, the muscle and the brain, it is called as a mitochondrial encephalomyopathy, where encephalo stands for brain. Group of Mitochondrial Myopathy Diseases include: Kearns-Sayre syndrome (KSS), Mitochondrial DNA Depletion Syndrome (MDS), Mitochondrial Encephalomyopathy; Lactic Acidosis and Stroke Like Episodes (MELAS), Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE), Myoclonus Epilepsy with Ragged Red Fibers (MERRF), Progressive External Ophthalmoplegia (PEO), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP), Leigh Syndrome, and Pearson Syndrome. Now, the question what causes mitochondrial myopathy? All of know that our body is made with the help of genes. The particular type of genes that affect mitochondrial diseases are those that make proteins, which in turn, work inside the mitochondria. Mitochondria refers to a...
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...Clinical treatments of muscular diseases differ from case to case which includes medication testing that works on alleviating the diseases' symptoms. Myopathies' treatment relies on upon its cause (Gupta, 2014). The objectives of myopathy treatment are to abate the development of the disease and alleviate symptoms. Muscular and inflammatory dystrophies' treatments range from treatments using drugs to bypassing circumstances which makes muscles make a lot of effort for metabolic myopathies. Doctors often advise myopathy patients to lose weight and keep it low; as a lighter body needs less effort from the muscles. Also they advise them to abstain from making the muscles to fatigue. At the point when breathing issues appear, some patients use...
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...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 myopathy is applied to muscle...
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...degeneration of muscular tissue in the body. Looking at the patient’s age and that she feels weakness in the distal muscles, it can also be hypothesized that she could be suffering from a form of distal myopathy. Most distal myopathies occur at a later stage in life and atrophy happens...
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...The contents of the broken-down muscle fibers can enter systemic circulation and cause acute renal failure, which can be fatal (Pharmacology for Nurses: A Pathophysiologic Approach 291). 3. What is causing the rhabdomyolysis AND describe how /why it developed. Rhabdomyolysis can be caused by the interaction between the stain drugs and other medications such as macrolide antibiotics, azole antifungals, fibric acid agents and certain immunosuppressants. The mechanism of the interaction is not known but these different medications interact with the statin metabolism and lead to an increase risk for severe muscle breakdown or myopathy. The broken-down muscles then enter systemic circulation and case the rhabdomyolysis (Pharmacology for Nurses: A Pathophysiologic Approach 291). 4. How can Mr. T avoid this complication in the future? What adjustments can you make in his medications now? How can you advise...
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...supposed to. One disease horses can get from doing so is Hyperthermia. Hyperthermia is a type of heat stroke condition that occurs when a horse is performing a great deal of work in excessively hot or humid conditions. When the horse is unable to lose body heat, its body temperature grows rapidly causing severe (and sometimes fatal) heath issues therefor owners should be cautious about weather conditions for their horses. Although there are many diseases horses can get a few of the most common are Hyperkalemic Periodic Paralysis (HYPP), Polysaccharide Storage Myopathy (PSSM) and Glycogen Branching Enzyme Deficiency (GBED). The first disease is Hyperkalemic Periodic Paralysis. This disease is a dominant condition meaning the foals need to inherit only one gene to show signs of the condition. It causes defect of the electrical impulse that controls the muscular contraction. The next disease is Polysaccharide Storage Myopathy, which is also a dominant disease caused by the glycogen synthase gene. It affects more than 10% of Quarter Horses. Horses that have the disease start to show muscle stiffness and cramping that can cause severe pain to the horse. The last disease is Glycogen Branching Enzyme Deficiency. Unlike the other previous diseases, this is a recessive trait which means both parents must pass on the defective gene for offspring to be affected. This disorder causes a malfunction in the use and storage of glycogen in the brain, liver and muscles. American Quarter...
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...approach is early weaning of patients on mechanical ventilator, also the entire interdisciplinary team is involved in a mobility plan for all patients admitted the unit. Early weight-bearing and ambulation is encouraged. Control of schedule for mobilizing patients out of bed is the responsibility of members in physical therapy department. Each patient may be up for about two hours, the number of patient to be up and the time they should be up is posted for both day and night shift. For vented patients the Respiratory therapist, the nurses and the nursing assistant together as team is responsible for getting these patients out of bed. Strict attention is placed on the patient’s nutrition in order to restore muscle mass. Critical illness myopathy is a major complication in critical care unit patients affecting peripheral nerves muscles and neuromuscular junction resulting in muscle weakness and paresis. “Early mobilization or kinesiotherapy have shown muscle weakness reversion in critically...
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... Occurring during a molecular and cellular level of Rhabdomyolysis is that the cells are dying and bursting. The contents of the cells are being released into the bloodstream leading to the symptoms of Rhabdomyolysis. There are many different causes leading to Rhabdomyolysis and they can be classified into two categories known as environmental causes and internal causes. Two environmental causes are: The use of alcohol or illegal drugs such as heroin, cocaine or amphetamines and a crush injury such as from an auto accident, fall, or building collapse. Two internal causes are: Extreme muscle strain, especially in someone who is an untrained athlete and also blocked blood vessels can cause this along with diseases of the muscles (myopathy) such as congenital muscle enzyme deficiency or Duchenne's muscular dystrophy. Rhabdomyolysis is treatable and patients may recover quickly if the disease is caught in its early stages. Treatment with intravenous (IV) fluids helps maintain urine production and prevent kidney failure. Rarely, dialysis treatment may be needed to help your kidneys filter waste products while they are recovering. Management of electrolyte abnormalities (potassium, calcium and phosphorus) helps protect your heart and other organs. You may also need a surgical procedure (fasciotomy) to relieve tension or pressure and loss of circulation if compartment syndrome threatens muscle death or nerve damage. In some cases, you may...
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...forming ALS. A doctor is able to administer a magnetic resonance imaging (MRI). This is done so the doctor can view comprehensive images of the brain and spinal cord. The images are shown by using a magnetic field and radio waves. When MRI scans are conducted on candidates of ALS, the results are usually normal. Instead, the scan may be used to detect other disorders within a patient, such as a spinal cord tumor. As the doctor conducts various tests on the patient, there are symptoms that arise. With the information from the testing, the doctor may complete a variety of new tests, including blood and urine samples with routine laboratory examinations, in order to rule out more disorders. In cases where a doctor suspected a patient had myopathy, a muscular disease, instead of ALS, he or she may conduct a muscle biopsy rather than continue testing. ...
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...Other possible causes include ataxia, cerebral palsy, cognitive delay, myopathy, spine bifida and problems with vision. Ataxia defines as a defect impairs muscle coordination while cerebral palsy is a condition caused brain damaged before birth. Example gross motor coordination aspect delay is by 3-4 month in infancy phase, baby does not reach, grasp or hold any object, does not support his or her head well, does not bring any object to mouth and does not push down with legs when the feet placed on a firm surface at age by 4 month. Other example by 7 month delay include unable sit up without help, reach one hand only or does not reach actively for object and has stiff or very floppy muscles. Other developmental delay by 1 year is does not crawl, cannot stand when supported and by 2 years children unable to walk ...
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...Atenolol is a Beta adrenoceptor Antagonist which is more efficient in Blocking Beta 1 receptors. It is one of the most used drugs for treating hypertension since it is a cardioselective drug. It lowers the blood pressure and the heart rate and may be safe for asthmatics. The main indication is for angina pectoris, hypertension and arrhythmias. Its main action is to prevent sympathetic vasoconstriction and to reduce prostatic smooth muscle tone. One of the main problem with taking atenolol is that a daily dose is not sufficient and the behavior of the patient towards taking the drug continuously is dependent on this. Doxazosin is an Alpha 1 Blocker. It selectively blocks alpha 1 receptors in arterioles and venules. It dilates both resistance and capacitance vessels which result in a reduction of arterial pressure. It produces less reflex tachycardia when lowering blood pressure. Retention of salt and water occurs with the intake of these drugs, so a diuretic must be taken in order to counteract these effects. Thiazide diuretics should not be given to patients with hyperlipidemia because it will just worsen the condition because thiazide diuretics deplete sodium and potassium (Ames). Hydralazine dilates arterioles but not veins. The bioavailability is low with an estimation of 25% because it is rapidly metabolized by the liver during the first pass. It is mainly used in severe hypertension and works better in combination with Nitrates. It is effective in heart failure. It has...
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...experienced’ wildlife vet and team using the correct protocols and taking the relevant precautions, should perform the dehorning. Due to the continual growth of the horn, dehorning may need to be repeated every 18 – 24 months. Repeated exposure to anaesthesia may contribute to short and long-term health problem; and increases the mortality risk to between 1-2 %. Contradictory opinions were expressed at the workshop. A specialist veterinary aneasthetist confirmed that risks increase with frequency of and repeated exposure to anaesthesia. Drugging and handling of mega-herbivores carries inherent risks that may include injuries, bruising, overheating, cardiac distress, respiratory depression, increased blood pressure, localized pressure myopathies, miscarriages in pregnant females etc. The horn should be cut off safely above the germinal growth layer. When the horn is removed too close to...
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...Treatment is being able to manage the symptoms and palliative treatment; it includes use of corticosteroids, such as Prednisone for polymyositis at a high dose, until the CK levels return to normal ranges, with additional monitoring for the adverse effects of corticosteroids, such as weight gain, hypertension, osteopenia, and steroid myopathy. When patients do not show signs of improvement with cortico-steroids after a sensible period, immunotherapy can be used. Patients that have a poor prognostic, like difficulty swallowing, also tend to require immune therapy. In patients who develop adverse reactions to prednisone, methotrexate is the second choice of treatment. Intravenous immunoglobulin has also been used for short term treatment in patients that experience adverse reactions to steroids. Patients might benefit from a diet high in proteins, with supervised exercises. Other therapies might be used to prevent muscle contractures, such as heat/cold applications, and splints. Additionally, patients can receive physical therapy early in the disease to aid in range of...
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...of in the field, dosing inaccuracies (either too high causing cardiovascular and respiratory depression or too low causing undue stress during restraint) may be problematic. This can be offset by using combinations of higher therapeutic index drugs exhibiting a synergistic effect, thus reducing the anesthetists’ reliance on any one agent. Furthermore, excitation may induce a physiologic response dampening the effect of a given drug. Should this occur in a fleet footed animal with a large range, they may run for some distance, escaping the anesthetist’s line of site, become recumbent, and succumb to cardiovascular depression, respiratory depression, drowning, or predation. 1 The patient may experience a sublethal to lethal exhertional myopathy during escape attempts or restraint prior to induction. This is characterized by a florid release of catecholamines, increased oxygen demand, hypoxia, anaerobic glycolysis, lactic acidosis, electrolyte derangements, hyperthermia, pulmonary edema, muscle necrosis, and possible...
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...is taken to reveal what the inside of your arteries looks like. It can show you if the artery is slightly blocked or if it is severe. There are many different ways to diagnose coronary artery disease that are all sufficient, but an EKG can be the first step to this. V. Treatment Treating coronary artery disease can be very complicated depending on the severity and progression of the disease. Most of the time it involves taking drugs and specific medical procedures. Once these have been followed through, there has to be lifestyle changes that follow. The first kind of drug is a cholesterol-modifying medication such as a fibrate. They are amphipathic carboxylic acids that remove lipoprotein particles. Side effects of this include nausea, myopathy, and an increased risk for gallstones. This can decrease the lipoprotein cholesterol that forms the deposits on the coronary arteries. If one is 20 years or younger, they would take a 75-169 mg/dL and if they are 21 or older they can take a 100-199 mg/dL. Another medication that can be used is nitroglycerin also known as glyceryl trinitrate. This medication is converted to nitric oxide that activates guanylate cyclase that results in the relaxation of smooth muscle cells and vasodilation. The guanylate cyclase stimulates cGMP which is a second messenger acting as a G protein, relaxing the smooth muscle cell. This can be taken in the form of a tablet, spray, or a patch. It is meant to control chest pain by widening coronary arteries and...
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