Leber’s Hereditary Optic Neuropathy (LHON) is a kind of genetic disorder that caused by the pathogenic variants in mtDNA (mitochondrial DNA) leading to a bilateral visual loss during young adult life‚ especially in males. Mitochondrial DNA is found in mitochondria which breakdowns carbohydrates and fatty acids to generate energy so that the body cells can use. Mitochondrial DNA is inherited maternally‚ it is because the paternal mitochondria in sperm have disappeared during the early embryogenesis
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Inclusion body myopathy 2 is a hereditary condition that mostly affects skeletal muscles‚ which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and only worsens over time (O ’Ferrall). GNE-related myopathy‚ also known as inclusion body myopathy 2‚ is characterized by slowly progressive distal muscle weakness that begins with gait disturbance and foot drop secondary to anterior tibialis muscle weakness. Weakness
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Hereditary methemoglobinemia is most commonly referred to as "the blue people disease" or "met-h". It is believed that this disease started in Kentucky with the blue Fugates of troublesome creek. It was started about six generations ago with a man named Martin Fugate. He was a French orphan. Martin came here with his red-headed American bride (Elizabeth Smith). Her skin was as pale as pale could get. They had seven children‚ four of them are believed to have blue colored skin. The clan of them kept
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Microbiology Enzymology and Catalytic Metabolism Hereditary Fructose Intolerance (HFI) Hereditary Fructose Intolerance (HFI) is a genetic condition people are born with‚ usually without previous family history. Individuals with this condition have difficulty metabolizing fructose and/or foods containing fructose. The individuals liver and kidneys attempt to use this sugar for energy and due to the incomplete breakdown of fructose‚ toxic byproducts are produced which eventually leads to serious
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a huge debate within the intellectual world about the theory of evolution‚ a debate which affected Ibsen’s thinking also. The notion that man has evolved according to laws of natural selection‚ and survival of the fittest‚ which places him in a hereditary sequence has led to demands of heredity being an important theme in A Doll’s House running alongside that of free will. This theme is also one of significance to Ibsen’s own life as at the age of six Ibsen was subjected to hearing rumours that he
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throughout the body‚ some mitochondrial diseases only affect particular tissues. Describe such a disease and what is known about the basis of its tissue selectivity. Allowed word count: 1500 Actual word count: 1498 Introduction Leber’s hereditary optic neuropathy (LHON) is an optical nerve dysfunction caused by mtDNA mutation that generally causes bilateral loss of sight in young adult men between the ages of 18 and 35 due to degradation of the optical nerve and retinal ganglion cells (RGCs)
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Which pattern of knowing do you believe is the most important to your current practice of nursing? Defend your answer. The patterns of knowing nursing denote the importance in meeting goals and developing effective outcomes in nursing practice. Among Carper’s pattern of knowing‚ the most important focus in my job‚ which is in the Children Cancer Unit‚ is personal knowing. Carper describes personal knowing as being affected with the knowing‚ encountering and symbolizing of the individual self (Johns
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I want to work on some critical points on this novel by Philips Northman and others‚ to find out how different between classes of society could damage to the people and destroy their life and dreams‚ and also how the story criticize or fail to critique the differences between classes of society? From Materialism point of view this novel has some critical points about materialistic view to the life‚ because people ideology after world war. They pursued themselves to find ideology between matters
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CRITIQUE OF THESIS “Determinant Factors Affecting the State of Maintenance of Equipment and Machineries in the Eight Engineering Districts of the DPWH-NCR” by Engr. Tiburcio L. Magtoto A critique submitted in partial fulfilment of the requirements for the degree of Master in Business Administration by Marvellie E. Amba Lyceum of the Philippines University January 2014 Submitted to: Professor Carl Mark Miniano Strategic Management INTRODUCTION
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pattern recognition In machine learning‚ pattern recognition is the assignment of a label to a given input value. An example of pattern recognition is classification‚ which attempts to assign each input value to one of a given set of classes (for example‚ determine whether a given email is "spam" or "non-spam"). However‚ pattern recognition is a more general problem that encompasses other types of output as well. Other examples are regression‚ which assigns a real-valued output to each input; sequence
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