By 2003 seven types of Mucopolysaccharidoses had been discovered. There is not a specific year or date for the discovery of the different types of MPS but all of them were discovered by 2003. MPS is a recessive allele genetic disorder; that lacks the production of certain lysosomal enzymes. The lack of these enzymes could cause their body to be disfigured, some individuals have problems with their respiratory system, circulation system, and their facial structure. Although there is not a known cure for this disorder, there are treatments that can help with the pain that the disorder causes. There are numerous types of MPS each has a different enzyme missing. Depending on which lysosomal enzyme is absent, the symptoms, treatment, and category …show more content…
For the reason that the individuals are born with the disorder, there is not currently a way to get rid of any symptoms present. The signs of MPS are obvious, being they are usually involved with growth defects, or body defects that happen to the individual dealing with MPS. A bulging Stomach, abnormally large head, corneal clouding, and sever to less severe joint stiffness are some examples of the more common symptoms of MPS. The symptoms severity levels differ from the multiple individuals who have MPS. Since there are numerous different types of MPS there are different symptoms that go with each lysosomal enzyme deficiency . Like with MPS I there is a great deal of facial defects that happen, respiratory problems, and joint stiffness. There are more skeletal defects associated with MPS II than MPS …show more content…
Nonetheless there have been studies to help ease some of the pain that is experienced due to MPS. Physical Therapy can help preserve and lessen pain and joint stiffness (Babies First). Some doctors might recommend surgery if the individual has a great deal of fluid built up in the brain (hydrocephalus), this surgery would relieve some of the pressure in the skull. Enzyme Replacement Therapy (ERT) is the only actual treatment targeted and specialized for MPS. The ERT treatment targets the enzyme that has low levels in their body; the treatment supplements the missing lysosomal enzyme. Hematopoietic Stem Cell Transplantation (HSCT), the individual's doctor may recommend this to improve the signs and symptoms. The reason for this treatment is that it may reduce facial coarseness, liver/spleen enlargement, and it could stabilize heart function (Baby's First). Stem Cells can be found in the bone marrow, the bloodstream, and in babies the umbilical cord blood. Since there is no ¨Cure¨ for MPS the individuals who have MPS will have to have many doctors to help them with the different symptoms they experience. Cardiologist, Ophthalmologist, Physical Therapist, Otolaryngologists, and a regular doctor are just some of the ones that they would
Terry Blair was born on September 16, 1961, he is a known American serial killer in, Kansas City, Missouri, where he killed and raped more the seven women. He grew up in a family where he’s mother had a ninth grade education and suffered from a mental illness. Blair’s family had many encounters with the police, as he was growing up. While Blair was in prison his brother Walter Blair Jr. offered a man to kill Katherine Allen for $6,000 so she couldn’t appear at his rape trial. Terry admitted to abducting the girl and taking her to an empty lot and shooting her, Walter was imprisoned for the murder and executed in 1993. On March 27, 2008 a judge found Terry guilty for the murders of the six women, the women’s bodies were found in the Prospect Avenue corridor in 2003 and 2004.
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
...esearch that improves diagnosis and treatment for all of the different body systems that are affected by the single gene mutation known as Marfan syndrome. This includes the respiratory system…the lungs, and the skeletal system…scoliosis, joints, and ligaments, visual… vision, and cardiovascular…the heart and the blood vessels like the aortic valve (Marfan Foundation, 2013). Genetic testing also helps to identify where the mutations are exactly and this can help with treatment advances for Marfan syndrome.
There is no known cure for MG, but there are effective treatments that allow many, bur not all people with MG, to lead full regular lives. Therefore, the next concern would be to decrease or eliminate the symptoms that go along with the disease. Common treatments include medications, thymectomy and plasmaphersis. Thymectomy is the surgical removal of the thymus glad. By removing the thymus gland it lessens the severity of the MG weakness after many months. Plasmapheresis or plasma exchange is a procedure of removing the abnormal antibodies from the plasma of the blood. This is brief due to the abnormal antibodies continually producing.
In births, 1 out of every 200,000 people are affected by Morquio syndrome, but they are not visible until the ages of 1-3. Once the symptoms are noticeable, the problems advance quickly as the child grows. There are two types of Morquio syndrome, also known as MPS IV, which are Type A and Type
When the children are diagnosed they have a number of symptoms that point towards progeria. When they are born there is no sign that they have progeria. They look like normal babies. They start having the appearance of someone with progeria as they get into their first or second birthday. They start to loose all of their hair, including the eyebrows, their veins start sticking out like an elderly person's would. They have ears that have no ear lobes and that stick out a lot."A broad, mildly concave nasal ridge nose, prominent eyes, thin lips and micrognathia (small jaw) with a vertical midline groove in the chin."(Baek, McKenna, Eriksson, 2013) Their teeth grow slowly...
Cerebral Palsy (CP) is a condition marked by impaired muscle coordination and other disabilities, which causes damage to the brain before and during birth. Cerebral palsy is a static disorder of the brain, not a progressive disorder. This mean that the disorder or disease process will not get worse as time goes on. Nor are the motor disorders associated with cerebral palsy temporary. (Miller and Bachrach pg. 3) Cerebral Palsy affects the nervous system by having dysfunctions, in movements such as, learning, hearing, seeing, and thinking. During the first 3 to 5 years of a child's life Cerebral Palsy occur because the baby's brain is still developing. (CP is one of the most common congenital (existing before birth or at birth) disorders of childhood). Spastic, athetoid, ataxic and dystonic are all different types of Cerebral Palsy. Majority of circumstances with children having CP are unknown, then again numerous results show problems during pregnancy in which the brain is damaged or doesn't develop normally. “This can be due to infections, maternal health problems, a genetic disorder, or something else that interferes with normal brain development.” Cerebral palsy is also caused by injuries and abnormalities of the brain; as the baby grows in the womb these problems occur. Some causes may lead to problems with brain development which include:
What is Pompe Disease? Pompe disease is a genetic disorder which deals with a mutation within a gene called the GAA gene, glucosidase, alpha; acid, and produces an enzyme to produce a buildup of glycogen, a complex sugar, within body cells which cause the lysosomes to not reuse the sugar properly. The name of this enzyme is called alpha-glucosidase, more commonly known as acid maltase. The GAA gene is located on Chromosome 17 on the q arm between the positions 25.2 and 25.3 (GAA, paragraph 4). A GAA gene is used to make normal acid maltase which breaks down the glycogen into glucose, a simple sugar molecule. Lysosomes are used to digest, or break down, proteins and sugars for energy. There are different mutations of this gene which causes the disease of Pompe in people. (GAA, paragraph 3) Some of these mutations consist of the alteration of the protein building block, the destruction or inserting of the genetic information located within the GAA gene.
The symbolism and imagery used in the short stories paints a vivid picture into the author’s train of thought. Charlotte Perkins Gilman and Shirley Jackson were not normal writers. The stories are a form of gothic writing. This paper will be analyzing the point of view, symbolism, and setting in the stories The Yellow Wallpaper by Charlotte Perkins Gilman, and The Lottery by Shirley Jackson.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
Life changing disabilities can be either a singular condition, or a combination of conditions, that can drastically change the course of an individual’s life. In most cases because we are not an island, this disability can make stronger bonds within the family, or break-up a good family foundation. These disabilities can be anything from a physical impairment to mental or intellectual issues. This can touch all members of the family, including the extended family members as well as the community.
Scotland has been a country that I have recently gotten obsessed with. I have traveled to many places: Cancun (Mexico), Costa Rica (South America), and many different states in the United States. Always for vacation, I have traveled for warmth, not the sites. Scotland’s weather is nothing to be too crazy about, never getting quite too cold or warm. The scenery of Scotland, I have only seen in pictures and it makes my heart melt! Also, I have never seen a castle and that would be a very different experience than what the United States could offer. Another reason I decided to dedicate my project to Scotland is that I don’t know a lot about it. To spend a lot of time researching a country, I wanted it to be something that I didn’t know
The symptoms are poor coordination, stiff and weak muscles. It?s affects sensation, vision, hearing, swallowing, and speaking. About 1/3 of those with CP will end up having seizures; (Contributors). Seizures are brief moments of abnormal brain activity that causes your body to jerk or loss of awareness; (Contributors, Wikipedia, The Free Encyclopedia). There are several sub-types known as spastic CP, ataxic CP and athetoid CP; (Contributors, Wikipedia, The Free Encyclopedia). Under spastic, there are other sub-groups: hemiplegia, diplegia, monoplegia, triplegia, and quadriplegia. Hemiplegia is where the CP symptoms only affected one side. Diplegia has affected the lower part of their bodies. They are usually given walkers, crutches, canes, or even just orthotics to help them move around without bigger struggles. They often receive nearsightedness and strabismus, being cross eyed. Monoplegia is just one single limb has been affected. Triplegia is, obviously, three limbs have been affected. Quadriplegia is, also obvious, all four limbs have been affected. They are the least likely to walk because their muscles are too tight and impairs their normal movement; (Contributors, Wikipedia, The Free Encyclopedia). Ataxic is the least frequent diagnosis of CP. Ataxic is damaged in the cerebellar structures of the brain causing damage to muscle movement and balance. They also experience problems with coordination in the arms, legs, and
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...
In order to maximize the usefulness of this assignment, I decided to evaluate the company I plan to intern for this summer, and hopefully sign on full time with after the conclusion of my internship: British Petroleum. I believe this will be particularly interesting as the energy/oil industry is under particular scrutiny when it comes to values and ethics, for obvious micro/macro reasons. On the other hand, it will be enlightening for me to see and further understand the culture and long term goals of the organization I will be walking into.