Marfan Research Papers

Week five I wrote about a sperm bank that lost a deceased man's vials of sperm. Grief, sorrow, and suffering were all feelings felt by Sarah Robertson after the loss of her 29 year-old husband, Aaron Robertson. Aaron had passed away from a rare genetic disorder known as Marfan Syndrome. Sarah mourned the death of her husband, but had somewhat comfort in knowing that six vials of her deceased husbands sperm were safely stored at the Reproductive Fertility Center in Los Angeles. As time went on since Aaron passed, Sarah felt she was ready to put his vials of sperm to use. Devastating news awaited Sarah as she was told that all six vials had been reported missing. Sarah and her in-laws are suing the LA clinic and Dr. Peyman Saadat, the owner.

B. Professor Jérôme Lejeune, a French Pediatrician and Geneticist, discovered that Down syndrome was a chromosomal abnormality in 1959.

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

MARGO Mott is ready to spend the following couple of months on the street along with her trend assortment and he or she couldn’t be happier.

Autosomal recessive inheritance is the third type known to cause muscular dystrophy, whereas both parents are carriers of the defective gene. For this reason the offspring have a 25% chance of being affected with both malformed genes, resulting in them being affected. The chance increases with cousin marriages.

William Mervin Mills or Billy Mills was born in Pine Ridge, South Dakota, and was raised by some Indian Reservation of the Oglala Sioux tribe. Mills was given the nickname Makata Taka Hela, which mean “Love you country.” When Mills was twelve years old, he was in an orphaned and while going to school he give up boxing and focus his interest on track. During his track competition, has won couples of titles, for example, NCAA All-America cross-country runner, and the Big Eight cross-country championship. After graduating the University of Kansa, he went into the United States Marine Corps and become a First Lieutenant in the Marine Corps Reserve. Before the summer of 1964 Mills takes his running to the next level, which was to try out for the

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Although first case of Down syndrome was reported in early 1866 by John Langdon Down but

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

The father of Orlando terrorist shooter Omar Mateen, Seddique Mateen, has a history with prominent Islamic groups in America. Seddique Mateen is listed as president of American Muslim Alliance (AMA) chapter in Fort Pierce in a July 1997 document. The AMA sponsored several radical conferences in the U.S. and its leader, Agha Saeed, had spoken in defense of convicted terrorists, including Aafia Siddiqui (a.k.a. “Lady Al-Qaida”), Palestinian Islamic Jihad board member Sami Al-Arian, and Pakistani intelligence lobbyist Ghulam Nabi Fai. The AMA was incorporated as a nonprofit organization in California in 1994 for the purpose of “educating the Muslim community and others on the history and laws of the United States and on affirmative participation

This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.

The disease was first noted in 1786 by Caleb Hillier Parry 1755- 1822, physician from General Hospital, Bath, England. His account was published posthumously in 1825.

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.

It was discovered in the early 1800s by French physician Rene Theophile Hyacinthe Laënnec. He talked about the disease in one of his lectures in 1804 and in his journal in 1806. The journal, with his views and findings about the disease, was published. The name melanoma was given to skin cancer by him as