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Marfan disease research paper
Marfan syndrome research paper
Marfan disease research paper
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On a biochemical level, Sanfilippo syndrome is characterized by the excess excretion of heparan sulfate in the urine and the accumulation of mucopolysaccharides in the central nervous system and other tissues. Sanfilippo syndrome is The most common disorder of mucopolysaccharide metabolism, a syndrome in which the onset of clinical abnormalities occurs between ages 2 and 6, with mild coarsening of the facial features (but normal clear corneas), mild stiffening of the joints, slowing of growth, and intellectual deterioration that results in severe mental
Presented is Milton Larsen, a 84 year-old African American veteran who lives with his step-daughter Dina in a small home. Mr. Larsen’s bedroom is located in the basement, where he spends most of his time with his cat Snuggles. The objective data gathered from Milton Larsen’s case scenario is as followed: a medical diagnosis of hypertension and left knee osteoarthritis. He is prescribed metoprolol tartrate and spironolactone for his hypertension and he takes ibuprofen for aggravation of the left knee related to frequent trips to the upstairs bathroom. At a recent visit to his primary care physician Milton Larsen stated the following subjective data “Dina gets mad at my cat and takes it out on me.”
Mattie trusts Rooster because she’s been old that he is a man with true grit. This trait to Mattie means a person who has a lot of courage, which is something she needs someone with to go on the journey. This helps their journey because it helps them be able to navigate the plains unafraid and with precision. This also helps when they get into the middle of a gun fights with Lucky Ned Pepper’s posse. Rooster trait also helps the quest because it makes Mattie feel a lot more comfortable with capturing Chaney and not being harmed.
1474). The extent of genetic disposition is still limited, but potential links are there and while it is not typical of most people with MS, in the case of JF, there have been eight different members within the family have do. In this family’s case, it comes from the paternal side of his family. His own twenty-eight year old daughter was recently diagnosed with MS, bringing this to four generations, much as described in the study. The study focused on the linage of one family where there was an indication of fifteen family members with documented with the
Fibrodysplasia ossificans progressiva is one of the rarest and most disabling disease known to mankind. The disease progression is caused when connective tissue such as; muscle, tendons, or ligaments are slowly replaced by bone. Eventually, the additional bone formation outside the skeleton will constrict movement and imprison the body. The literature on fibrodysplasia ossificans progressiva is sparse, which could account for the extremely high rate of misdiagnoses of the disorder.
Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.
“The true white horse does not exist”, almost everyone in the Equine world has heard this at one time or another. The reason that a true white horse does not exist, is because of the Overo Lethal White Syndrome or OLWS for short. Although it can be called many names, this is the most common. This syndrome affects horses of the overo gene pool. An overo is a type of white coat pattern that occurs in several breads of horses.
Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person 's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis.
Common findings are neurodefecits in the central nervous system (CNS) such as chronic neurologic demyelination and inflammation of the CNS, lesions found in the neural space of the person, and an inappropriate immune response (Borazanci et al. 2009). Loss of myelin in the CNS leads to inappropriate action potential activation in which the axons of the neurons become inflamed over time and potentially lead to axon damage and/or loss (Nickerson 2013). Nickerson 2013 also stated that this long term inflammation could be contributing to the long term disabilities associated with MS. Loss of myelin in the axons of neurologic cells lead to many things; one being the formation of astrocytic scarring forming on the myelin sheaths (Newlan et
Unloyalty presents itself in many forms, some more severe than others, however all are extremely damaging to its
He suffered from smallpox at 7, which scarred his face and was in a carriage accident a few years later, that left his left arm deformed.
Discovered in 1989, Cystic Fibrosis is the most common, fatal genetic disease in the United States. Statistics show that 30,000 people in the US have been named with this disease. (Genome) Cystic Fibrosis is a disease caused when the CFTR (Cystic Fibrosis Transmembrane Regulator) is defective and the cells do not release the right amount of chloride. This causes for the body to produce thick, sticky mucus that clogs up the lungs, leads to infection, blocks the pancreas, which stops the digestive enzymes from reaching the intestine. Symptoms require; salty tasting skin, wheezing, shortness of breath, persistent coughing, poor growth or weight gain, frequent/bulky stool, and male infertility.
According to Multiple Sclerosis, a pamphlet by the U.S. Department of Health and Human Services, Multiple Sclerosis is caused by the scarring and inflammation of brain and spinal cord tissue (Richert, 1990). This inflammation actually breaks down the myelin of those nerves, which makes it difficult for a nerve cell to send impulses needed for doing simple things like walking or eating. After the myelin has been stripped away it is followed by the hardening of, or sclerosis, of nervous system tissue, which is how the disease gets its name. This illness usually only shortens a person’s life by five years.
Multiple sclerosis is an autoimmune disease that causes the demyelination of the myelin sheath which surrounds and protects nerve cells. Multiple sclerosis is a complicated and unpredictable neurological disease, and it can affect any area of the brain and spinal cord (“Multiple Sclerosis: Answers At Your Fingertips.”, 2010). According to Richman, Schub, and Pravikoff (2015) there can be four clinical types of MS, there is relapsing-remitting (RRMS), primary-progressive (PPMS), secondary-progressive (SPMS), and progressive-relapsing (PRMS). PPMS has a steady progression of symptoms. SPMS has serious progression of symptoms later throughout the disease.
The aim of the paper is to extract the perspective of gender difference at work place in regards of the movie The China syndrome 1979 which is a America origin film based on the role of a news reporter and her cameraman that fulfill their work at the most tense situation of nuclear meltdown at a nuclear power plant. The reason to extract the theme of gender at workplace is to determine that man or women, when it comes to fulfill their responsibility, they aim to accomplish it without any hesitation regarding their gender and strength likewise the main protagonist of the movie who fulfills her job despite of the tense and dangerous situation in hands. The China syndrome 1979 The China syndrome 1979 is an American film that recounts the story