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Recommended: Marfan syndrome pcs
Introduction:
The purpose of my research paper was to find out information about a tissue disorder. The tissue disorder that I chose was Marfan Syndrome.
A Brief Overview:
Marfan Syndrome is name after Antoine Marfan. He was a French pediatrician who first describe the condition in 1896. Marfan Syndrome other known as the connective tissue disorder, is an inherited tissue disorder. It is the missfloding of protein fibrillin. (code fibrillin-1) Marfan affects the connective tissue of heart, blood vessels, eyes, bones, lungs and covering of spinal cord. There are so many affected parts in the body because of Marfan Syndrome, because of this it can cause many complications which can be life threatening.
What Was Know/Believed About It In The Past:
It was named after Antonie Marfan. A French pediatrician. He first described the condition in 1896, after he had noticed striking features in a five year old girl.
The gene that is linked to the disease was first identified by Francesco Ramirez in 1991.
What Causes It:
Marfan Syndrome is a genetic disorder. So therefore it can be passed...
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Caetlin Asher Spanish 325 10 March 2017 Lack of Separation Between the Church and State The separation between state and Church has been a controversial issue for decades. In the movie “Mar Adentro”, this separation between Church and state, or lack thereof, is brought to attention through the court battle between the state and Ramón Sampedro. Ramón Sampedro was a sailor who became a quadriplegic during an accident diving into the ocean water causing a permanent spinal cord injury leaving him paralyzed. Over twenty years of being paralyzed from the neck down, Ramón decides to receive legal permission to end his life through assisted suicide, specifically Euthanasia.
Osgood-Schlatter Disease or syndrome (OSD) is an irritation of the patellar ligament at the tibial tuberosity (Dhar). Osgood-Schlatter Disease is claimed by some to not actually be a disease (Sims). But is rather a collection of symptoms that involves the tibial tubercle epiphysis (Sims). Osgood-Schlatter Disease affects as many as 1 in 5 adolescent athletes (Diseases and Conditions: Osgood-Schlatter Disease). Some other common names for this disease are Osteochondrosis, Tibial Aponphysitis, Tibial Tubercle Apophyseal Traction Injury, Morbus Osgood- Schlatter, and Rugby Knee (Dhar). “This can cause multiple sub-acute avulsion fractures along with inflammation of the tendon, leading to excess bone growth in the tuberosity and producing a visible lump which can be very painful when hit (Dhar). Activities such as kneeling may irritate the tendon further (Dhar).”
...ular level, Alpha-1 has become one of the best-understood genetic disorders. While many questions about the clinical disorder still remain a mystery. The Alpha-1 Foundation, The National Institutes of Health, liver disease experts and pulmonary experts are hard working to establish patient management, as well as clinical treatment guidelines for patients. With this and the new stem cell discoveries it leaves me with hope that a cure is just around the corner.
James Parkinson. It’s not certain how long the disease has existed but its probably been around
ALD was first discovered by Ernst Siemerling and Hans Gerhard Creutzfeldt in 1923, but was never officially recognized until 1993. When ALD was first discovered it was called Siemerling- Creutzfeldt disease. Siemerling and Creutzfeldt describe it as “a rare, inherited, disorder that leads progressive brain disorders, failure of the adrenal glands and eventually death.”(The New York Times) ALD is a in a group of inherited disorders called leukodystrophys it is a group of disorders characterized by progressive degeneration of the white matter of the brain. (Leukodystrophys.)
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Research is defined as systematic investigation in order to establish facts and reach new conclusions (OUP, 2014). The biopsychosocial model has already been described.
The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research that give those affected by the disease hope for a brighter future are highlighted.
Jonathan Juste 4/21/14 Hum. Bio Analysis of Angelman Syndrome In 1965 , Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
There are many disorders or syndromes that cause people to behave and act differently than others. Out of all these syndromes, I picked one of them. This is a very rare syndrome and an estimate of 4% of children in the U.S. have it. It is known as the translocation down syndrome. Translocation down syndrome is a type of down syndrome caused by rearranged chromosome material. A child with translocation down syndrome has 3 #21 chromosomes instead of the two pairs. Here,one of the chromosomes is attached to another and the extra chromosome is what causes the health problems is what causes the health problems associated with the disorder known as down syndrome.
Any child can be born with Down syndrome, which could include your child. Many people don’t really down what Down syndrome is. Around the entire world not many really know what Down syndrome really is and the importance of it. Down syndrome has different causes that one should know about. There are many different types of health issues with Down syndrome. Down syndrome defines all the causes and the different health issues that Down syndrome holds.
There are many life factors that can affect a person’s development and growth these inculde, genetic, biological, environmental ,socioeconomic and lifestyle factors. Genetics is the science of genes, heredity, and the variation of organisms. Also half of our chromosome come from our mother and the other half from your father. The gentic disorders are illnesess caused by the abnormalities in the genes or chromosomes. Down’s syndrome is an example of genetic disorder. Biological disorders are when something is physically wrong with the body or causes problems with the boddy, cancer is an example of biological disorder. These conditios can affect a person’s physical, intelltucal, emotional and social development.