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TP53 gene – Genetics Home Reference

Posted: April 9, 2018 at 9:43 am

Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature. 2014 Jul 31;511(7511):543-50. doi: 10.1038/nature13385. Epub 2014 Jul 9. Erratum in: Nature. 2014 Oct 9;514(7521):262. Rogers, K [corrected to Rodgers, K].

Damineni S, Rao VR, Kumar S, Ravuri RR, Kagitha S, Dunna NR, Digumarthi R, Satti V. Germline mutations of TP53 gene in breast cancer. Tumour Biol. 2014 Sep;35(9):9219-27. doi: 10.1007/s13277-014-2176-6. Epub 2014 Jun 15.

Loyo M, Li RJ, Bettegowda C, Pickering CR, Frederick MJ, Myers JN, Agrawal N. Lessons learned from next-generation sequencing in head and neck cancer. Head Neck. 2013 Mar;35(3):454-63. doi: 10.1002/hed.23100. Epub 2012 Aug 21. Review.

Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, Gruber SB, Ford JM, Euhus D, Lebensohn A, Telli M, Pochebit SM, Lypas G, Garber JE. Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat. 2012 Jun;133(3):1125-30. doi: 10.1007/s10549-012-1993-9. Epub 2012 Mar 4.

Masica DL, Li S, Douville C, Manola J, Ferris RL, Burtness B, Forastiere AA, Koch WM, Chung CH, Karchin R. Predicting survival in head and neck squamous cell carcinoma from TP53 mutation. Hum Genet. 2015 May;134(5):497-507. doi: 10.1007/s00439-014-1470-0. Epub 2014 Aug 10.

Merino D, Malkin D. p53 and hereditary cancer. Subcell Biochem. 2014;85:1-16. doi: 10.1007/978-94-017-9211-0_1. Review.

Olivier M, Hollstein M, Hainaut P. TP53 mutations in human cancers: origins, consequences, and clinical use. Cold Spring Harb Perspect Biol. 2010 Jan;2(1):a001008. doi: 10.1101/cshperspect.a001008. Review.

Olivier M, Langerd A, Carrieri P, Bergh J, Klaar S, Eyfjord J, Theillet C, Rodriguez C, Lidereau R, Biche I, Varley J, Bignon Y, Uhrhammer N, Winqvist R, Jukkola-Vuorinen A, Niederacher D, Kato S, Ishioka C, Hainaut P, Brresen-Dale AL. The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer. Clin Cancer Res. 2006 Feb 15;12(4):1157-67.

Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van ‘t Veer LJ. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429.

Schneider K, Zelley K, Nichols KE, Garber J. Li-Fraumeni Syndrome. 1999 Jan 19 [updated 2013 Apr 11]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1311/

Silwal-Pandit L, Vollan HK, Chin SF, Rueda OM, McKinney S, Osako T, Quigley DA, Kristensen VN, Aparicio S, Brresen-Dale AL, Caldas C, Langerd A. TP53 mutation spectrum in breast cancer is subtype specific and has distinct prognostic relevance. Clin Cancer Res. 2014 Jul 1;20(13):3569-80. doi: 10.1158/1078-0432.CCR-13-2943. Epub 2014 May 6. Erratum in: Clin Cancer Res. 2015 Mar 15;21(6):1502.

Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, Schilder RJ, Cortesi L. Hereditary ovarian cancer: not only BRCA 1 and 2 genes. Biomed Res Int. 2015;2015:341723. doi: 10.1155/2015/341723. Epub 2015 May 17. Review.

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TP53 gene – Genetics Home Reference

Recommendation and review posted by G. Smith

Pros and Cons of Genetic Engineering in Humans

Posted: April 9, 2018 at 9:41 am

The human body is not perfect. Some are created with inherent faults and others break down before their time. Science has the potential to make good these problems by altering how humans are made. This is genetic engineering, and this article looks at the pros and cons of the technology in humans

This is part one of a two-part series. Here I will look at a definition of genetic engineering and the pros of human genetic engineering. In part two the cons and the ethics of human genetic engineering are discussed.

Before weighing up the pros and cons of genetic engineering in humans, it’s worth taking the time to understand just what is meant by the idea. Simply put, it’s a way of manipulating our genes in such a way as to make our bodies better. This alteration of a genome could take place in the sperm and egg cells. This is known as germline gene therapy and would alter the traits that a child is born with. The changes would be inheritable and passed down through the generations. It is currently illegal in many countries.

The other way to change our genome is to swap our bad genes for good ones – in cells other than the sex cells. This is known as somatic cell gene therapy. This is where a functioning gene could be fired into our bodies on a viral vector to carry out the functions that a faulty gene is unable to. This technology is permitted, though it has enjoyed a very limited success rate so far (largely because it is technically very difficult). Nonetheless, it still holds out a great deal of promise.

There are many potential advantages to being able to alter the cells in our bodies genetically.

To make disease a thing of the past

Most people on the planet die of disease or have family members that do. Very few of us will just pop up to bed one night and gently close our eyes for the last time. Our genomes are not as robust as we would like them to be and genetic mutations either directly cause a disease such as Cystic fibrosis, or they contribute to it greatly i.e. Alzheimer’s. Or in the case of some conditions such as the heart disease Cardiomyopathy, genetic mutations can make our bodies more susceptible to attack from viruses or our own immune system. If the full benefits of gene therapy are ever realised we can replace the dud genes with correctly functioning copies.

To extend life spans

Having enjoyed life, most of us want to cling on to it for as long as possible. The genetic engineering of humans has the potential to greatly increase our life spans. Some estimates reckon that 100-150 years could be the norm. Of course gene therapy for a fatal condition will increase the lifespan of the patient but we’re also talking about genetic modifications of healthy people to give them a longer life. Once we fully understand the genetics of ageing it may be possible to slow down or reverse some of the cellular mechanisms that lead to our decline – for example by preventing telomeres at the ends of chromosomes from shortening. Telomere shortening is known to contribute to cell senescence.

Better pharmaceuticals

The knowledge gained by working out genetic solutions for the above could help with the design of better pharmaceutical products that are able to target specifically genetic mutations in each individual.

So What’s the Downside?

As deliriously exciting as some people believe genetic engineering to be – there are several downsides and ethical dilemmas. Click the link to read the cons.

This two part series explores some of the pros and cons of human genetic engineering.

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Pros and Cons of Genetic Engineering in Humans

Recommendation and review posted by G. Smith

Voluntary Human Extinction Movement – Wikipedia

Posted: April 8, 2018 at 12:43 am

Voluntary Human Extinction MovementMottoMay we live long and die outFormation1991TypeNGO

Founder

The Voluntary Human Extinction Movement (VHEMT[A]) is an environmental movement that calls for all people to abstain from reproduction to cause the gradual voluntary extinction of humankind. VHEMT supports human extinction primarily because, in the group’s view, it would prevent environmental degradation. The group states that a decrease in the human population would prevent a significant amount of human-caused suffering. The extinctions of non-human species and the scarcity of resources required by humans are frequently cited by the group as evidence of the harm caused by human overpopulation.

VHEMT was founded in 1991 by Les U. Knight, an American activist who became involved in the environmental movement in the 1970s and thereafter concluded that human extinction was the best solution to the problems facing the Earth’s biosphere and humanity. Knight publishes the group’s newsletter and serves as its spokesman. Although the group is promoted by a website and represented at some environmental events, it relies heavily on coverage from outside media to spread its message. Many commentators view its platform as unacceptably extreme, though other writers have applauded VHEMT’s perspective. In response to VHEMT, some journalists and academics have argued that humans can develop sustainable lifestyles or can reduce their population to sustainable levels. Others maintain that, whatever the merits of the idea, the human reproductive drive will prevent humankind from ever voluntarily seeking extinction.

The Voluntary Human Extinction Movement was founded by Les U. Knight,[2][3][B] a high school substitute teacher who lives in Portland, Oregon.[2] After becoming involved in the environmental movement as a college student in the 1970s, Knight attributed most of the dangers faced by the planet to human overpopulation.[2][5] He joined the Zero Population Growth organization,[2] and chose to be vasectomised at age 25.[5] He later concluded that the extinction of humanity would be the best solution to the Earth’s environmental problems.[2] He believes that this idea has also been held by some people throughout human history.

In 1991, Knight began publishing VHEMT’s newsletter,[2] known as These Exit Times.[3] In the newsletter, he asked readers to further human extinction by not procreating.[2] VHEMT has also published cartoons,[7] including a comic strip titled “Bonobo Baby”, featuring a woman who forgoes childbearing in favor of adopting a bonobo.[3] In 1996, Knight created a website for VHEMT; it was available in 11 languages by 2010. VHEMT’s logo features the letter “V” (for voluntary) and an inverted Earth (i.e., with north at the bottom).[10][C]

VHEMT functions as a loose network rather than a formal organization, and does not compile a list of members. Daniel Metz of Willamette University stated in 1995 that VHEMT’s mailing list had just under 400 subscribers.[2] Six years later, Fox News said the list had only 230 subscribers.[12] Knight says that anyone who agrees with his ideology is a member of the movement;[2] and that this includes “millions of people”.[13][D]

Knight serves as the spokesman for VHEMT.[2] He attends environmental conferences and events, where he publicizes information about population growth. VHEMT’s message has, however, primarily been spread through coverage by media outlets, rather than events and its newsletter. VHEMT sells buttons and T-shirts, as well as bumper stickers that read “Thank you for not breeding”.[3]

Were the only species evolved enough to consciously go extinct for the good of all life, or which needs to.

VHEMT Website[15]

Knight argues that the human population is far greater than the Earth can handle, and that the best thing for Earth’s biosphere is for humans to voluntarily cease reproducing.[16] He says that humans are “incompatible with the biosphere”[3] and that human existence is causing environmental damage which will eventually bring about the extinction of humans (as well as other organisms).[17] According to Knight, the vast majority of human societies have not lived sustainable lifestyles,[5] and attempts to live environmentally friendly lifestyles do not change the fact that human existence has ultimately been destructive to the Earth and many of its non-human organisms.[3] Voluntary human extinction is promoted on the grounds that it will prevent human suffering and the extinction of other species; Knight points out that many species are threatened by the increasing human population.[2][12][16]

James Ormrod, a psychologist who profiled the group in the journal Psychoanalysis, Culture & Society, notes that the “most fundamental belief” of VHEMT is that “human beings should stop reproducing”, and that some people consider themselves members of the group but do not actually support human extinction. Knight, however, believes that even if humans become more environmentally friendly, they could still return to environmentally destructive lifestyles and hence should eliminate themselves.[5] Residents of First World countries bear the most responsibility to change, according to Knight, as they consume the largest proportion of resources.[18]

Knight believes that Earth’s non-human organisms have a higher overall value than humans and their accomplishments, such as art: “The plays of Shakespeare and the work of Einstein can’t hold a candle to a tiger”.[3] He argues that species higher in the food chain are less important than lower species.[3] His ideology is drawn in part from deep ecology, and he sometimes refers to the Earth as Gaia. He notes that human extinction is unavoidable, and that it is better to become extinct soon to avoid causing the extinction of other animals.[16] The potential for evolution of other organisms is also cited as a benefit.

Knight sees abstinence from reproduction as an altruistic choice[5] a way to prevent involuntary human suffering[20] and cites the deaths of children from preventable causes as an example of needless suffering.[5] Knight claims that non-reproduction would eventually allow humans to lead idyllic lifestyles in an environment comparable to the Garden of Eden,[21] and maintains that the last remaining humans would be proud of their accomplishment. Other benefits of ceasing human reproduction that he cites include the end of abortion, war, and starvation.[21] Knight argues that “procreation today is de facto child abuse”. He maintains that the standard of human life will worsen if resources are consumed by a growing population rather than spent solving existing issues. He speculates that if people ceased to reproduce, they would use their energy for other pursuits,[3] and suggests adoption and foster care as outlets for people who desire children.[5]

VHEMT rejects government-mandated human population control programs in favor of voluntary population reduction,[2] supporting only the use of birth control and willpower to prevent pregnancies.[3] Knight states that coercive tactics are unlikely to permanently lower the human population, citing the fact that humanity has survived catastrophic wars, famines, and viruses. Though their newsletter’s name recalls the suicide manual Final Exit,[17] the idea of mass suicide is rejected,[18] and they have adopted the slogan “May we live long and die out”.[5] A 1995 survey of VHEMT members found that a majority of them felt a strong moral obligation to protect the earth, distrusted the ability of political processes to prevent harm to the environment, and were willing to surrender some of their rights for their cause. VHEMT members who strongly believed that “Civilization [is] headed for collapse” were most likely to embrace these views. However, VHEMT does not take any overt political stances.

VHEMT promotes a more extreme ideology than Population Action International, a group that argues humanity should reducebut not eliminateits population to care for the Earth. However, the VHEMT platform is more moderate and serious than the Church of Euthanasia, which advocates population reduction by suicide and cannibalism.[12][21] The 1995 survey found that 36% considered themselves members of Earth First! or had donated to the group in the previous five years.

Knight states his group’s ideology runs counter to contemporary society’s natalism. He believes this pressure has stopped many people from supporting, or even discussing, population control.[5] He admits that his group is unlikely to succeed, but contends that attempting to reduce the Earth’s population is the only moral option.[3]

Reception of Knight’s idea in the mainstream media has been mixed. Writing in the San Francisco Chronicle, Gregory Dicum states that there is an “undeniable logic” to VHEMT’s arguments, but he doubts whether Knight’s ideas can succeed, arguing that many people desire to have children and cannot be dissuaded.[5] Stephen Jarvis echoes this skepticism in The Independent, noting that VHEMT faces great difficulty owing to the basic human reproductive drive.[3] At The Guardian’s website, Guy Dammann applauds the movement’s aim as “in many ways laudable”, but argues that it is absurd to believe that humans will voluntarily seek extinction.[25] Freelance writer Abby O’Reilly writes that since having children is frequently viewed as a measure of success, VHEMT’s goal is difficult to attain.[26] Knight contends in response to these arguments that though sexual desire is natural, human desire for children is a product of enculturation.[3]

The Roman Catholic Archdiocese of New York has criticized Knight’s platform, arguing that the existence of humanity is divinely ordained.[12] Ormrod claims that Knight “arguably abandons deep ecology in favour of straightforward misanthropy”. He notes that Knight’s claim that the last humans in an extinction scenario would have an abundance of resources promotes his cause based on “benefits accruing to humans”. Ormrod sees this type of argument as counter-intuitive, arguing that it borrows the language of “late-modern consumer societies”. He faults Knight for what he sees as a failure to develop a consistent and unambiguous ideology. The Economist characterizes Knight’s claim that voluntary human extinction is advisable due to limited resources as “Malthusian bosh”. The paper further states that compassion for the planet does not necessarily require the pursuit of human extinction.[2] Sociologist Frank Furedi also deems VHEMT to be a Malthusian group, classifying them as a type of environmental organization that “[thinks] the worst about the human species”.[27] Writing in Spiked, Josie Appleton argues that the group is indifferent to humanity, rather than “anti-human”.[28]

Brian Bethune writes in Maclean’s that Knight’s logic is “as absurd as it’s unassailable”. However, he doubts Knight’s claim that the last survivors of the human race would have pleasant lives and suspects that a “collective loss of the will to live” would prevail.[21] In response to Knight’s platform, journalist Sheldon Richman argues that humans are “active agents” and can change their behavior. He contends that people are capable of solving the problems facing Earth.[16] Alan Weisman, author of The World Without Us, suggests a limit of one child per family as a preferable alternative to abstinence from reproduction.[21]

Katharine Mieszkowski of Salon.com recommends that childless people adopt VHEMT’s arguments when facing “probing questions” about their childlessness.[29] Writing in the Journal for Critical Animal Studies, Carmen Dell’Aversano notes that VHEMT seeks to renounce children as a symbol of perpetual human progress. She casts the movement as a form of “queer oppositional politics” because it rejects perpetual reproduction as a form of motivation. She argues that the movement seeks to come to a new definition of “civil order”, as Lee Edelman suggested that queer theory should. Dell’Aversano believes that VHEMT fulfills Edelman’s mandate because they embody the death drive rather than ideas that focus on the reproduction of the past.[30]

Although Knight’s organization has been featured in a book titled Kooks: A Guide to the Outer Limits of Human Belief,[2] The Guardian journalist Oliver Burkeman notes that in a phone conversation Knight seems “rather sane and self-deprecating”.[31] Weisman echoes this sentiment, characterizing Knight as “thoughtful, soft-spoken, articulate, and quite serious”.[28] Philosophers Steven Best and Douglas Kellner view VHEMT’s stance as extreme, but they note that the movement formed in response to extreme stances found in “modern humanism”.

In 1973 D. Keith Mano published a science fiction novel entitled The Bridge in which mankind has decided that its presence is environmentally intolerable and that all human beings must die.[33]

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Voluntary Human Extinction Movement – Wikipedia

Recommendation and review posted by G. Smith

Aesthetic Medicine & Anti-Aging Clinic | Baton Rouge, Lafayette

Posted: April 8, 2018 at 12:42 am

FACIALS, HAIR REMOVAL AND MICRODERMABRASION IN BATON ROUGE AND LAFAYETTE, LA

You can achieve many of the anti-aging results you seek through non-invasive, relaxing spa treatments in Baton Rouge and Lafayette, LA, from The Aesthetic Medicine & Anti-Aging Clinics of Louisiana. Facials, peels and microdermabrasion purify the skin and accentuate your natural beauty while waxing and laser hair removal effectively eliminate unsightly hair.

We also sell many beneficial skin care products so you can maintain your vibrant, healthy appearance in the comfort of your home. Call today to learn more about our beautifying spa services, skin care products and anti-aging treatments in Baton Rouge and Lafayette, LA and schedule your free consultation.

Botox and Vaser liposuction will make you look great, but if you have a hormone imbalance, you likely wont feel as good as you look. If you are suffering from lower energy and libido, increased weight gain and other seemingly unexplainable issues, it may be due to a hormone imbalance. We specialize in hormone replacement therapy, including testosterone replacement. Call today to schedule your free consultation with a hormone replacement therapist and discover if hormone replacement therapy is the solution to the issues that affect your quality of life.

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Aesthetic Medicine & Anti-Aging Clinic | Baton Rouge, Lafayette

Recommendation and review posted by G. Smith

Letter from the Director | UH Neurological Institute …

Posted: April 6, 2018 at 12:44 am

Nicholas C. Bambakidis,MD, FAHA, FAANS

University Hospitals Neurological Institute combines a comprehensive team of neurology and neurosurgery specialists throughout the Northeast Ohio. Our providers are world-class experts who are readily available to care for patients with any number of neurological disorders, offering treatment for the entire spectrum of both medical and surgical diseases of the brain and spine. These include diagnosis such as stroke and cerebrovascular disease, brain and spinal tumors and cancer, headache, movement disorders such as Parkinsons Disease, and many other complex neurological problems.

The specialists within UH Neurological Institute are also part of a multidisciplinary team within the University Hospitals Spine Institute that treat patients with all manner of spinal disorders and pain syndromes. Our physicians perform nationally recognized research throughout this disease spectrum as well, and this means that patients often have access to the latest clinical trials and research protocols.

Our specialists and patient-centric approach to care is unrivaled not just in Northeast Ohio but nationally and internationally as well. As director of UH Neurological Institute, I am proud of our efforts in bringing this care to those who entrust their care to us.

Sincerely,

Nicholas C. Bambakidis, MD, FAHA, FAANSDirector and Vice President, University Hospitals Neurological InstituteProfessor of Neurological Surgery, Case Western Reserve University School of Medicine

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Letter from the Director | UH Neurological Institute …

Recommendation and review posted by G. Smith

Immortality Seeker – TV Tropes

Posted: April 6, 2018 at 12:42 am

When a character quests for eternal life. Sometimes it’s given to them, sometimes it isn’t. Sometimes it’s given to them and they regret the consequences, but their desire and actions towards immortality are what count towards this trope.Originally, this trope could be used for heroes and villains alike, as evidenced by quests for the Holy Grail and The Epic of Gilgamesh. Later it became one of the typical goals of an Evil Plan and thus the methods of achieving it were nasty, vile, and despicable. When heroes seek it they usually ultimately learn An Aesop and refocus their goals.See Immortality (and in particular Immortality Inducer) for ways to achieve it and Living Forever Is Awesome and Mortality Phobia for why they want to achieve it. Supertrope to Immortality Immorality, where seekers of immortality tend to resort to bad deeds to achieve it. Contrast Who Wants to Live Forever? for people that have immortality and hate it. Also Death Seeker for those seeking death instead. Not to be confused with Glory Seeker, someone who might want to go down in history, but doesn’t seek literal immortality.Courtesy of The Epic of Gilgamesh, this trope is Older Than Dirt.

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“Dark in here, isn’t it?”

“And lastly there is the oldest and deepest desire, the Great Escape: the Escape from Death. Fairy-stories provide many examples and modes of this Fairy-stories are made by men not by fairies. The Human-stories of the elves are doubtless full of the Escape from Deathlessness.”

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Immortality Seeker – TV Tropes

Recommendation and review posted by G. Smith


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