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  Prenatal Diagnosis

Posted by Timothy Best in Science And Society - Best - E on Thursday, February 25, 2016 at 10:50 am
​

The science behind prenatal diagnosis

Prenatal diagnosis is the screening or testing for genetic diseases or other conditions before a child is born. Although there are many different techniques and tests, I will focus on a few:

  • Preimplantation genetic diagnosis (PGD): During an IVF cycle, cells from the developing embryo can be genetically analyzed for chromosomal abnormalities - usually trisomy 21 (Down Syndrome), trisomy 13 and trisomy 18. The parents can then determine which embryos, if any, to transfer into the uterus. It is also possible to determine the sex of the embryo.

  • Ultrasound: An ultrasound uses sound waves to “look” at a fetus as it develops in the uterus. Since sound waves reflect off of tissues differently depending on the density of the tissue, the sonographer can create images of the fetus’ external and internal anatomy. Ultrasound can be used to measure an embryo or fetus in order to predict the due date, detect twins, diagnose heart and other growth defects, measure heart rate, look for signs associated with Down Syndrome, and determine the sex of the fetus.

  • Chorionic villus sampling: The chorionic villi are a part of the placenta that arises directly from the embryo (as opposed to the mother). They are, therefore, genetically identical to the developing embryo. Chorionic villi can be removed from the placenta and genetically analyzed to detect Down Syndrome and other genetic disorders. CVS has a slight risk (.5-1%) of miscarriage, and can also lead to amniotic fluid leakage and/or infection.

  • Amniocentesis: A fetus develops in the amniotic sac, which is full of amniotic fluid. The amniotic fluid contains fetal cells that have naturally sloughed off. The doctor, using an ultrasound image as a guide, inserts a needle through the mother’s skin, abdominal wall, uterine wall, and into the amniotic sac, away from the fetus. Amniotic fluid is then collected, and the fetal cells contained in the fluid can be analyzed for genetic conditions such as Down Syndrome. Amniocentesis has similar risks as CVS, although CVS can be done earlier.

  • Maternal Blood Testing: A relatively recently developed technique can detect fetal DNA in the mother’s blood stream. Thus, with a simple blood draw, the fetus’ sex can be determined, and it can be screened for a variety of genetic disorders.


Societal Impacts

While the above techniques may sound like wonderful advances in medicine, they also have their downsides. First, there’s a difference between screening and testing. A prenatal genetic screen - like maternal blood testing - only gives the level of risk of a condition, but it can not with 100% certainty diagnose a condition. Prenatal genetic tests - like amniocentesis and CVS - are more diagnostic, but also have higher risks for the pregnancy. And if a non-invasive screen detects a high risk for Down Syndrome, for example, the parents are then faced with the decision of whether or not to do a more invasive, high risk test in order to more accurately determine whether Down Syndrome is present. If the results of a CVS or amniocentesis indicate a genetic disorder, then the couple could be faced with the decision to terminate the pregnancy. At the very least, these weeks of testing and waiting for results can be draining and extremely stressful. Pregnancy can already be a stressful time, and these prenatal screens and test can add to that anxiety.


On the other hand, some parents feel that they’d like to know the risks, regardless of the outcome of a test. If a screening test comes back positive for a genetic disorder, then the parents at least won’t be surprised at the birth. They’ll have time to prepare, educate themselves, and possibly arrange for special care that might be needed for their newborn.


Some people opt out of the screens and tests altogether. They might argue that what’s meant to be is meant to be, and they’d rather spare themselves the stress and anxiety surrounding these tests and their results.


And finally, with PGD it is possible to choose the sex of your child. This is illegal in some countries, including Canada - but not the US. Given that IVF and PGD could cost $15000-$20000, the opportunity to screen embryos for genetic conditions and possibly select the sex would not be affordable for everyone. Is this fair? Should people be allowed to choose the sex of their children?


Personal opinions

As someone who loves science, I’m fascinated by these medical advances, and support further research into tests and screens like these. It’s exciting when new, improved tests come out that can help people get answers to their pregnancy concerns, and hopefully allay some of their fears. However, it’s easy for me to support these tests in a general, abstract way. It becomes more complicated when we’re talking about real pregnancies in my personal life. I’ve gone through some of these discussions and decisions, and sometimes there is no easy answer. I can see why people would be in the “no testing” camp - the screenings and testing definitely can raise anxiety and stress levels during pregnancy, which can already be pretty stressful. Still, I’m glad the tests are available, and I think they should continue to be offered to pregnant women. Key to this though, is that they need to be able to make informed decisions. Through discussions with their doctor and a knowledgeable genetic counselor, the parents-to-be can weigh the pros and cons for themselves, and then decide how they want to handle the conundrum of prenatal genetic diagnosis.



References:

Nierneberg, C. (2014). Prenatal Genetic Screening Tests: Benefits & Risks. Retrieved February 24, 2016, from http://www.livescience.com/45949-prenatal-genetic-testing.html


Sidhu, J. (n.d.). Women Are Paying Huge Sums To Have a Daughter Rather Than a Son. Retrieved February 24, 2016, from http://www.slate.com/articles/health_and_science/medical_examiner/2012/09/sex_selection_in_babies_through_pgd_americans_are_paying_to_have_daughters_rather_than_sons_.html


I wish I hadn't known: The ups and downs of prenatal testing. (n.d.). Retrieved February 24, 2016, from http://www.pregnancyandbaby.com/pregnancy/articles/944203/i-wish-i-hadnt-known-the-ups-and-downs-of-prenatal-testing


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5 Minutes of Science -Brittany Cooper

Posted by Brittany Cooper in Science And Society - Best - E on Saturday, June 4, 2016 at 11:58 pm

​Science -  HIV stands for Human Immunodeficiency Virus. HIV is a virus that spreads through body fluids that affects specific cells of the immune system. AIDS stands for Acquired Immunodeficiency Syndrome. HIV/AIDS attacks key parts of your body. Mainly your CD4 Cells. CD4 Cells also known as T- Cells are “helper” cells, which fight against infection . You can contract HIV/AIDS through unprotected sex/sex with an person who is infected. Women who are pregnant and tested positive for the virus have a high risk of exposure of infection to their baby. As well as any exchange of bodily fluids.

Society - There are five ways to get infected with HIV; through blood, semen, vaginal fluids, breastmilk and rectal fluids. It is ILLEGAL if you do not tell your partner your sex status. In many states you can press charges for people who know that they are infected and fail to tell so. Approximately 1 in 7 people are infected with the virus and do not know it. In the USA , about 15 to 20% babies born to HIV positive women who are not taking Anti-HIV drugs are infected. In most cases HIV is spread to the baby in the last week of pregnancy. If the mother has a vaginal delivery and her viral load is high, that increases the risk of transmitted the infection. It is advised that women get C - sections to decrease the risk of transmission.

Self - You CANNOT rely on your symptoms to tell you if you are positive for HIV/AIDS, unless you get tested. And follow through with the test results! in another words, go back and ask for your results. A lot of times people will take the test but not go back for the results because they are scared of the outcome. Have safe sex too!

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LGMD

Posted by Abdullah Jeffers in Science And Society - Best - E on Friday, June 3, 2016 at 10:25 am

Science
Limb Girdle Muscular dystrophy affects one shoulder and hips. It makes those area weaker. The disease is a genetic one with over 30 variations. There are some dominant genes and receive genes. This means that people with the genes can pass them on to their offspring. It makes it very hard to walk and complete simple task. Many people are bound to wheelchairs.

Society

There are Genetic screening one can do to see if they have it. Another hing is that if one has trouble standing on the tip of their toes they should maybe ask  doctor.

Self

My grandpa has ALS another type of muscle disease.
Also I learned and thought about LGMD for a scholarship.
Limb Girdle Muscular Dystrophy
This is a genetic disease
  • Caused by mutations on various genes

  • This leads to over 30 variations of LGMD

  • Very prominent in family with a dominant LGMD gene

  • If a parent has a dominant gene there is a 50% chance it will spread to the children

  • This is a genetic disease

  • Caused by mutations on various genes

  • This leads to over 30 variations of LGMD

  • Very prominent in family with a dominant LGMD gene

  • If a parent has a dominant gene there is a 50% chance it will spread to the children



https://docs.google.com/presentation/d/1FzW8nGwlxYkchb8vbVa2bRL_c9ACdBsgLnklGOBiw4Y/edit#slide=id.g111d3b436f_0_0
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Shark Attacks by Sergei Mass

Posted by Sergei Mass in Science And Society - Best - E on Wednesday, June 1, 2016 at 8:35 am

From a young age, I have had such an interest in sharks, matter of fact; I am a shark. I was struggling to figure out what I would be interested in doing for my 5 minutes of science. I wanted to do something Kanye related, but there is not much science behind that and so I directly went to sharks. 

Science:
Most shark attacks believe it or not are mistakes. Many people believe that sharks go after humans, but they just happen to be at the wrong place at the wrong time. Many humans tend to be not very smart and swim during their feeding time. Studies have shown that some sharks in Mexico have grown a taste for humans. Drug cartel leaders have been dumping dead bodies into shark infested waters and over time sharks have grown to like the taste of human flesh. Now it might be just a coincidence, but don't quote me because it is still unknown. To be attacked by a shark is very unlikely, you are actually more likely to die on your way to the shore than by being eaten by a shark.

Society:
There is a 1 in 3,748,067 chance to be eaten by a shark and it is highly unlikely to happen to you. If you see a shark stay calm!

Self: 
I am a shark and I love sharks. 

https://docs.google.com/presentation/d/1xd8vc6Isx3WtY9gu4JQWZZEZZajlhq3_aMHqSvpQ8FE/edit#slide=id.p


https://docs.google.com/presentation/d/1xd8vc6Isx3WtY9gu4JQWZZEZZajlhq3_aMHqSvpQ8FE/edit#slide=id.p
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The Science Behind The Gut Feeling: Ameer Forte

Posted by Ameer Forte in Science And Society - Best - E on Tuesday, May 31, 2016 at 10:25 am

​Science: 

Modern science has given the world a way to determine whether or not the "gut feeling" you hear people refer to is a myth, or a true feeling or instinct of human thought and emotion. An article published in April 2016, shows researchers, for the first time ever, having devised a way to measure intuition. According to many researchers, intuition is far more material than it seems. Hope College social psychologist David Myers, PhD, explains that the intuitive right brain is almost always “reading” your surroundings, even when your conscious left brain is otherwise engaged. The body can register this information while the conscious mind remains blissfully unaware of what’s going on.’ This effect causes your first instinct to a problem or your “intuition” more reliable to trust than not because the first time you think about something your brain is more focused on it, without you even knowing. The experiment showed that most individuals actually guessed the right color more often when they began to trust their gut instinct by showing confidence and responding quickly, suddenly reacting rather than spending extra time thinking about the color.

Society:

Intuition can help people make better decisions under the right circumstances. This was an important study that showed that information subconsciously perceived in the brain can help with decisions if that information holds some value or extra evidence beyond what people already have in their conscious mind. In the future, researchers might be able to develop a method to train people to take advantage of their intuition and then test them to see if their intuition truly improved with more frequent use and practice.

Self:

When is this useful for someone like me? Well I personally plan to take advantage of my natural ability of intuition when test taking, when critical decision making, and basically in all aspects of life that involve important decision making.
5 Min Of Science
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Common Cold Blog Post

Posted by Rafi Hares in Science And Society - Best - E on Monday, May 30, 2016 at 7:33 pm


​Explaining common cold's to people is actually very simply. The reason for that is that everyone has experienced a common cold before, and and everyone knows the symptoms very well. Symptoms like sore throat, nasal congestion, and coughing are easily explainable. When it comes to the science most people know that there isn't a cure for the common cold because every year we catch cold's several times. The idea here is that there isn't one treatable cause for the common cold, they are hundreds of causes which why it is such a pesky thing to deal with. All of my sources on the common cold are reliable because they are backed by research. Some of my sources are also government funded.

http://www.cdc.gov/features/rhinoviruses/
http://www.nhs.uk/Livewell/coldsandflu/Pages/Preventionandcure.aspx
http://www.commoncold.org/understand.htm
http://www.smithsonianmag.com/science-nature/five-surprising-facts-about-the-common-cold-23293218/?no-ist

The common cold affects society in it that everyone gets one. Because of the common cold we call out sick at work, don't go to school, and even make ourselves a burden to those around us. People with weaker immune systems and children are the most prone to catching colds. Because of this we often spend a lot of time showing our children how to be sanitary. It's even possible to say that the common cold fostered this whole culture of always wash your hands after you do something with them. We build our lives in such a way that we try to avoid getting a cold as much as possible. The common cold has helped us develop as a cleanly society. Some people might say that the common cold causes us to waste time but it's because of the common cold that we have such as thing like sick days. Everyone has called out of work sick before without actually being sick. Imagine not having that chance because common colds didn't exist. In the future I think we will most likely get even cleaner as a society to eventually eradicate the common cold.


I think the common cold has made me into a paranoid person. Anytime I see someone coughing or sneezing I try to avoid them more because I don't want to catch a cold. It makes me alienate people. At the same time I do value the fact that the common cold has helped society develop. We have things like antibacterial soap and spray because of the common cold. The whole "it destroys 99.9% of all germs" things is a way to assure people that these products will protect against the cold. Yes to me the common cold culture has helped society develop new products and solutions as well as push us further to that 100% of all germs standard
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Hikma Salhe- Female Genital Mutilation

Posted by Hikma Salhe in Science And Society - Best - E on Sunday, May 29, 2016 at 4:00 pm

​Science- 
"Female genital mutilation comprises all procedures involving paritial or total removal of the female external genitalia or other injury to the female genital organs for non-medical reasons as defined by the World Health Organisation (WHO)." FGM is often done on girls between infancy and 15 years of age. There are four types of FGM:
  1. Clitoridectomy- removal of partial or whole clitoris and/or it's prepuce.
  2. Excision- removal of clitoris and labia minora.
  3. Infibulation- the narrowing of the vaginal opening through the creation of a covering seal.
  4. Any kind of non-medical, harmful procedures to the female genitalia 
Studies have shown that there is no known medical benefit to FGM, in fact the consequences are incredible. Most women suffer from problems urinating, vaginal/vulva cysts, vaginal infections, complications in future pregnancies and childbirth. 

Society-
FGM occurs all over the world, however it is not as apparent as it once was 20 years ago. FGM is most popular in North, Eastern/Sub-Saharan Africa, and the Middle East. FGM, in most countries, is considered to be a necessity to raise a girl. It’s ‘purpose’ is to keep the female modesty and virginity intact, making it popular amongst men. It aims to reduce female libido and overall female sexuality, by instilling fear into the woman.


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Christian Moore - Human Growth Hormone

Posted by Christian Moore in Science And Society - Best - E on Sunday, May 29, 2016 at 9:05 am

​Science - Growth hormones are a natural substance created by your body just like testosterone. Human growth hormones however are genetically made hormones that help you get bigger. They were invented to help people who had developmental problems and could not grow to their appropriate size. This synthetic mixture was only available to people who absolutely needed it but began to be sold other places and people began to get their hands on it. The HGH itself does not get a person big, but depending on their daily activities may result in size difference. It is not a steroid, but considered a "doping" substance.

Society - HGH is not commonly known, and is often taken by bodybuilders and athletes even though it is banned in some organizations. These growth hormones when taken properly are very beneficial to your body. Athlete have been known to tear ligaments and take HGH's to speed up recovery time. The hormones are looked at as giving unfair advantages to athletes so it is frowned upon. It works by boosting testosterone levels in effect making a person work harder, lift more, and get better work results. Though it does not make them better, it is a Performance Enhancer. 

Self - I have never taken a growth hormone substance, but I think it is cool how our bodies react to different substances and the length people will go to just to achieve big muscles.
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Prosthetics-Maggie Clampet-Lundquist

Posted by Maggie Clampet-Lundquist in Science And Society - Best - E on Friday, May 27, 2016 at 7:34 pm

Science: A prosthetic is a device, either external or implanted, that substitutes for or supplements a missing or defective part of the body. A prosthetic is different depending on the level of physical condition/abilities and needs. Prosthetic technology has advanced so much that each prosthetic is custom made. They can look like whatever the patient wants whether that might be functional,  or looking like a natural limb. A prosthetic is connected to a socket which allows the prosthetic to connect to your dead limb. There is a layer that called the: Addition Layer. The additional layer is a piece of fabric that separated the skin from the prosthetic. The inside of the socket is made with a soft material that makes it comfortable. Limbs need to be amputated so the risk of infection decreases. The doctors would begin by cutting into the skin the cut has to be accurate so it will heal accurately and leave minimal scarring. A lot of the muscle is cut off during the amputation but a lot thought has to go into reshaping the muscle tissue that is still there, this is important because the padding provides around the bone after surgery. The padding is also important for maintaining a healthy stump and is important when it comes to fitting the prosthetic.

Society:In the United States there are 2 million people who have a prosthetic body part. Prosthetics cost anywhere from five to fifty thousand dollars, but no matter the cost prosthetic have to be replaced every three to five years because of wear and tear. The most common way for people to lose a limb is through Vascular disease fifty four percent of the United States has this disease. Prosthetics aren’t only for people, they are also for animals.  Like humans, animals can have limb defects causing them to have a prosthetic body part.

Self: I think prosthetics are an amazing invention! 
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Tommy John Surgery - Kevin Courtney 5mins of Science

Posted by Kevin Courtney in Science And Society - Best - E on Friday, May 27, 2016 at 1:07 pm

​Science:
The tommy John surgery is the Ulnar collateral ligament reconstruction (UCL). What it does it helps athletics get there elbow back to 100%. It will replace a tendon from a different part from the human body or from an organ donor. From my personal experience nothing was taken from me. I had an organ donor tendon to replace my bad ligament. Doctors will cut open your arm by the elbow (not a huge cut, but big enough for them to get into). Then they will drill holes into the ulna and humerus bones to help for the next step. With the doctors drilling through your bones, it doesn't cause your arm to be broken they need the holes there so that the doctors can replace the ligament in a figure eight sort of way to help get the range of motion back faster. The cause of getting the injury that leads to the surgery is when an Athlete puts a lot of stress into there elbow. For example I over used my elbow a lot to throw baseballs and bowling balls. On top of that I would be lifting heavy weights which cause my ligament to tear. Athletes need to be careful when training and playing their sport!

Society:
For society a lot of major league players have many surgeries. Probably because they are always playing their sport. The tommy John surgery mostly happens in baseball because it easy for a pitcher to tear their ligament faster by throwing an average of 100 fast balls per outing on the mound. Since 1999 235 MLB players underwent the tommy John procedure. About 7% of pitchers like to throw the fastball more instead of their breaking ball. Pitchers have a tendency to stick with the fastball because it is there most fast and dominate pitch against a batter.  Also on top of that they probably feel more confident with that pitch slowly making it easier to injure their elbows.

Self:
For myself I underwent the tommy John procedure the past summer. I was out for 9 months and was suppose to be out for 11 months but I recovered super fast because I wanted to get back out on the diamond. I had a great comeback this season hitting 0.629 batting average, 0.638 slugging average, OBP 1.2 something, and OPS 1.297.

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Micah's 5 Minutes of Science

Posted by Micah Henry in Science And Society - Best - E on Thursday, May 26, 2016 at 9:26 pm

Science:

The science can be explained to the general public through simply touching on how playing video games can, as a whole, be more harmful than helpful. For video games are already a distraction from exercising and now the fact that using obese avatars can cause people to not want to exercise even more is no good. Males and females were used in this study in which they were given fat/skinny avatar and a fat/skinny opponent and one’s with thinner avatars increased physical activity vs an obese opponent while those with obese avatars were discouraged from participating in real life physical activity. My sources are very reliable and have proven facts and statements in them. There are multiple sources touching on this topic which is how I know my main source is reliable.

Society:

This impacts society through giving everyone and video game users new life and possibly a new perspective on how video games affect the real world. Mainly, video games users will only find this interesting because it obviously applies to them. Doing so in a manner that is both positive, due to it being informing and raising awareness, and also negative because physical exercise is very important for everyone. Furthermore, different people might think this to be untrue or just disregard it because it seems uninteresting or doesn’t apply to them. In the future, this might lead to obese avatars being taken out of video games completely, helping promote exercise.

Self:

I find this issue very intriguing because I would never guess that just using obese avatars would have such a significant effect on someone’s real life. This issue does not necessarily apply to me directly, because I love to exercise and workout out anyway. My overall thought process of having to live a healthy lifestyle, which means eating right and exercising everyday is engraved into my mind. Therefore, this finding does not have much of an effect on me. I believe obese avatars should be taken completely out of video games to help
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