Paper On Proteus Syndrome

■ Is there a cure to mutations? If so, what is the name of the cure called?:

The chance of having a baby with Progeria is about 1 in 4 – 8 million (“Progeria 101/FAQ"). That means that there are approximately 200-250 people diagnosed with Progeria in the world at any point in time (Progeria 101/FAQ"). Sam G. Berns was among that small amount until he passed away early this year, on January 14th, from complications of Progeria at the age of seventeen. He was an intelligent junior who attended Foxboro High School in Foxboro, Massachusetts. During his life, he reached the level of Eagle Scout in Boy Scouts, was a percussion section leader in his high school band, spoke at two TED conferences, and was interviewed on national television (ABC and NPR). His hometown is a mere 10 miles from my own, causing me to learn

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic condition that is characterized by premature aging in children. Its name is derived from the Greek and means “prematurely old.” There are different forms of Progeria, but we will be looking at the classic form that was named after the doctors who first discovered it, Dr. Jonathon Hutchinson in 1886 and Dr. Hastings Gilford in 1897.

Proteus vulgaris was discovered to be the unknown organism after several tests were concluded. First, a gram stain was done to determine if the unknown was gram negative or gram positive. It turned out to be a gram negative organism, so further tests were ordered based on this fact. The tests included were a OF glucose test, a Citrate test, a SIM test, and also a Urease test. The OF glucose test came out positive for a strict fermenter because both tubes turned yellow. The Citrate test came out negative because there was no color change identified. The SIM test showed positive for Sulfur, Indole, and motility. The black precipitate that formed shows the production of H2S and the red color after the Kovács reagent was added indicates Indole

For example, a Brazilian family with a genetic disorder named The sonic hedgehog protein. This disorder affects the size and number of fingers. When the bones and cartilage start to build up did Jean mutate and activate. The family and doesn't mind the extra finger. They see it as an advantage. Although, one of the family members have to get a special gloves to play baseball.

There are three tests that are commonly used to diagnose Paget’s disease. These tests are blood test, bone test and x-ray “Sometimes the disease is found by accident when one of these tests is done for another reason”. NIH national resource center, 2015). The results from a blood test, is sometimes the first alert a doctor receives that a person may have Paget’s disease. The bone cell makes an enzyme known as serum alkaline phosphatase (SAP). Whenever there is a higher level of SAP than usual in the blood, it is evidence that Paget’s disease may be present. SAP in the blood that is more than two times the usual level,is a strong indication that the disease is present in the individual. (NIH national resource center, 2015)

Vacation is a period of recreation, one spent away from home. My family and I take our vacations in the summer when school ends because I do not like missing work that I will have to make up in school. I adore ending school in June and then contemplating where I am going to spend my summer vacation. Every year, my parents take my siblings and I to Disney World in Florida, but this year we decided to travel somewhere divergent. We all decided to stay in Florida and go to a captivating area called Port Saint Lucie. We stayed at a location called Club Med, which includes a resort and many activities for people of all ages to do like volleyball, tennis; you name it. Club Med was a magnificent experience for my family since we all appreciate outdoor

DIAGNOSTIC CRITERIA: Prenatal onset of marked growth deficiency, microcephaly with secondary premature synostosis. Receding forehead, prominent nose micrognathia low set ears malformed ears with the lack of lobule down slanting palpebral fissures. Clinodactyly of fifth finger

Hello everyone, I decided to research Paget's Disease for this week's unit 7 discussion. Paget's disease is a chronic bone disorder that typically results in enlarged deformed bones due to excessive breakdown, and formation of bone tissue that can cause bones to, weaken and may result in bone pain, arthritis deformities, or fractures. Paget's disease was named after a great English surgeon and pathologist Sir James Paget, who discovered this condition in 1877. Men and women are equally affected by this disease. Because Paget's disease can be passed on after age 40, brothers, sisters, and children of someone with this condition may want to have an alkaline phosphatase blood test every 2 or 3 years to screen for Paget's disease.

Imagine that over the course of the last four years a strange disease killed half of the people in the United States. The mysterious illness caused those inflicted to cough up blood and pus, and blood-filled growths to develop on their bodies. The disease spread easily from person to person and though doctors gave a lot of advice, nothing worked to stop it.

Aging is an unavoidable stage of the body lifespan, which results in lower physiologic capacities, lower homeostasis, and high vulnerability to acquire diseases. Aging changes generally occur later in life, but one in every four or eight million newborns are born with Hutchinson Gilford Progeria Syndrome (HGPS), and manifestation of advance age related diseases like thin skin, osteoporosis, cardiovascular diseases, etc. Progerias is identified by physical and clinical features that portray premature ageing. This syndrome is a rare and fatal genetic disorder identified by accelerated premature ageing and extremely fast developed cardiovascular diseases.

In this experiment we will focus on Ehlers- Danlos Syndrome which is caused by a mutation in the gene COL3A1. Ehlers Danlos syndrome is common name given to more than ten different inherited disorders. All these have a genetic defect in the collagen and connective tissue. Ehler- Danlos syndrome affects the skin , joint and blood vessels. Ehlers- Danlos Syndrome IV is associated with arterial rupture and visceral perforation(Robert A Schwartz,). Currently there is no cure for Ehlers- Danlos Syndrome. What i’m proposing is that through a forward genetic screen you can identify the

Commonly known as elephant man syndrome, Proteus syndrome is a very rare condition that is characterized by an overgrowth of bones, skin, and tissue. The organs that are affected grow out of proportion. The condition is named after a Greek god Proteus known to change its shape. The condition was first described by Drs Michael Cohan and Samia, when they first described it in 1976, only 200 cases were confirmed worldwide. Currently, we have about 170 confirmed cases. Proteus syndrome is a progressive disease meaning, people are normal and then symptoms start showing as the disease progresses (National Human Genome Institute.2013).

disease (NLM, 2014). The procedure uses a corrected gene and inserts it into a person instead of

Over the past centuries a number of researchers have sought to determine the proper meaning of the Greek word proskynesis. It was the German lexicographer Passow who established the following definition: ‘die Hand an den Mund legen, sie mit einem Kusse gegen einen anderen ausstrecken und diesem dadurch seine Ehrfurcht beziegen’ [1]. A considerable amount of literature has been published on proskynesis, primarily focussing on its occurrence in Arrian’s Anabasis Alexandri, which deals with the refusal of Callisthenes to perform proskynesis in front of Alexander of Macedon [2]. Originally, this Persian court ritual was thought to be the only meaning to which the word