Progeria is a rare, fatal genetic
Progeria is a rare, fatal genetic
Although the problem was clearly stated in the introduction of this article, it was a bit unclear how sudden infant death syndrome, as well as increasing the survival of very low birth weight infants had any relevance to the problem at hand. Although it took a bit of time, the authors were eventually able to tie the information together. It was explained that in the 1990s, there was “an alarming rise in the number of premature infants presenting with plagiocephaly without syntosis, reported by several craniofacial centers.” Insert citation Gathering more current data would make for a more efficient, as well as accurate study. The authors also properly explained why plagiocephaly without syntosis was such an issue, as well as the solution, which was quite simple, a gel pillow. The correlation between the problem and the solution suggested that the study would prove to be successful.…
The most famous case known is Harry East Lack who died at the age of 39 from the disease. His short life is considered to be full for him to have F.O.P. This disease doesn’t have a discovery date but what I did discover was that the earliest known cases date back…
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, generic childhood disorder with reported incidence of about one in a million. Hutchinson has reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome 's senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, have "plucked bird" appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this disease. It is usually first diagnosed based only on appearance and treatment is given for other conditions associated with the aging process rather the disease it self.…
During this talk held in Washington D.C on October 2013, Sam Berns a 17 year old who suffers from a strange disease called “Progeria,” explains how this condition has only allowed him to live a happier life. According to the speaker this is an extremely rare disease that affects approximately 350 kids worldwide. It is characterized for giving children a premature aging aspect and the most common symptoms are: growth failure, loss of hair and body fat, heart disease and aged looking skin.…
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Hatchett, G. T. (2015). Treatment Guidelines for Clients with Antisocial Personality Disorder. Journal of Mental Health, 37(1), 15-27.…
Pellagra was a disease that affected hundreds of thousands of residents within the southeastern region of the United States from the time of its first known reports in the early 1900 's to the end of World War II, in 1945. Dr. Joseph Goldberger, from New York, was given credit for finding the cure for Pellagra. Contributing to the Goldberger 's cure were the discoveries of doctors and scientists prior to and during the time that Dr. Goldberger was working on the cure himself.…
Rett's syndrome is a neurodevelopmenal disorder that for the most part only affects women. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. Rett's Syndrome can be summed up by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. The sickness was first breached upon by Dr. Andreas Rett who briefly described the illness and some of the occurring symptoms, and then later on Swedish researcher Dr. Bengt Hagberg published an article in 1883 giving…
This defect is "dominant," meaning that anyone who inherits it from a parent with Huntington's will eventually develop the disease. The disorder is named for George Huntington, the physician who first described it in the late 1800s.…
Formally known as Hutchinson - Gilford syndrome, Progeria is a genetic disorder that affects 1 in every 8 million babies born. The disorder is known for its unusual appearance of premature aging in children. Progeria was first discovered when it showed up in a child in 1886 by Dr. Hutchinson. The second case was later discovered by Gilford a year later. In 1889 Badame named the disorder Progeria, derived from a Greek word meaning "old age" (Livneh 1). The suspected cause of Progeria is a mutation in Lamin A/C gene that leads to abnormality in control of the cell division and in the formation and…
Individuals with WBS present a wide variety of symptoms. Most obvious are their outward physical characteristics, which typically include a wide, open mouth with thick lips, a delicate and pointed chin, fullness around the eyes, retroussé nose, misaligned teeth, and full cheeks below the cheekbones (Figure 1) (Winter et al. 1996). These features have been termed “elfin facies”, and are generally most distinct between the ages of one and five. They tend to be so clear that individuals with WBS may appear more closely related to one another than to direct family members. However, with age these features tend to stiffen and skin appears to age at an increased rate (Tassabehji et al. 1997). These facial features and premature aging of the skin are generally attributed to the deletion of the elastin gene, located on chromosome 7 and known to be deleted in more than 90% of individuals with WBS (Nickerson et al.…
Working as a Clinician does not just require education. It requires a thorough look into your own values and beliefs. Working as a clinician also requires dignity, the capability of remaining humble, a good set of ethical standards and a big heart when it comes to helping others in need. One of the most important things about being a clinician is maintaining the capability to be aware of your own feelings. To be an effective clinician, you must be able to set aside your own personal feelings and beliefs and in turn focus on the client instead of your own personal beliefs. In this paper, I am going to talk about personal assumptions of clinical helping, how it relates to my own personal beliefs, values, past experiences. I am also going to talk about the larger societal and systems contexts of my life, and the types of clients I work with. I am also going to add some of…
People with Bloom’s Syndrome are small before birth and after birth. People with this disorder usually don’t exceed five feet tall and are smaller in height and weight than 97% of the population. Body proportions and muscle development seem to be normal, but children and young adults have very small amounts of fat. These traits make them very graceful. “Sometimes, these signs are accompanied by a reddish facial rash that is due to the dilation of very small blood vessels (telangiectasia) of the face. The rash typically appears in a “butterfly” pattern on the cheeks and across the nose.”(NORD, 2016). People with Bloom’s Syndrome have very sensitive skin that usually becomes red upon exposure to sunlight. They also have problems with their immune system causing in increase in ear infections and pneumonia. Those with Bloom’s Syndrome also have an increased risk of getting cancer; they tend to get cancer earlier in life and can be diagnosed with any kind. They also have an increased risk of being diagnosed with more than one type of cancer. “Cancer frequently occurs between their 10th and 40th years.”(Carlson, 1984, p.304) Men with this syndrome cannot produce sperm most of the time and women experience menopause at an earlier age than…
National Institute of Mental Health. (2013, May 30). Post-Traumatic Stress Disorder (PTSD). Retrieved from NIMH.NIH.GOV: http://www.nimh.nih.gov/health/topics/post-traumatic-stress-disorder-ptsd/index.shtml…
This is one of the most interesting genetic diseases in the world, and yet there is no cure for it. This disease can affect people drastically, or sometimes very little at all. Although there is no way to treat it, it can be helped, and there are many programs to help. This complex genetic disease is called down syndrome.…