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  Prenatal Diagnosis

Posted by Timothy Best in Science And Society - Best - Y on Monday, February 29, 2016 at 12:30 pm
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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Strokes

Posted by Olivia Mack in Science And Society - Best - Y on Monday, April 11, 2016 at 2:58 pm

Science- 800,00 strokes occur each year, there is a new stroke happening every 40 secs. Strokes occur in women more than they do in men. Strokes occur when there is a blood clot, so therefore there is no longer any blood flow going to your brain. This means that there is no longer any oxygen that is allowed into your brain. This kills some of your brain cells. Stroke patients are usually immoible or paralyzed after having a stroke. Strokes are the 5th leading cause of death in the US. You can tell if someone is having a stroke if their face is droopy on one side, if their speech is not comprehendible, if they look sick, look weak and etc. 
Society- Today there are some things that are accessible for people who are disabled. Many people who had strokes are disabled so they will need to have easy access to things. I think that maybe we could make some things in public places more accessible. 
Self- To prevent yourself or someone you know from having a stroke, you should be sure to have a healthy diet so that you will not have any blood clots that will cause you to have a stroke. Also, since you know some of the symptoms, maybe if you see someone having a stroke you can recognize it and get them the help that they need. 
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Dwarfism

Posted by Joie Nearn in Science And Society - Best - Y on Sunday, April 10, 2016 at 8:17 pm

Science:
Dwarfism is shortness in height that results from a genetic or medical condition. There are several types of this condition, Achondroplasia, which is the most common form, spondyloepiphyseal dysplasias, which is less common and dystrophic dysplasia, which is rarsist form. This is a genetic mutation that can be caused by a copy of the gene. You can have two normal sized parents and still have this condition. It is not very likely that it can be treated, however it has been suggested that hormone replacement therapy and nutrition.

Society:

Dwarfism has became a huge impact on the community. There now are shows such as Little Women LA. I feel that these people are still real people and live life like everyone else. 

Self:

I personally think that it is cool that people are born so differently. I personally understand what it feels like to shorter and in some ways deal with some of the day to day problems people with dwarfism deal with. 

References:

Dwarfism: Types, Causes, Treatments, and More. (n.d.). Retrieved April 10, 2016, from http://www.webmd.com/children/dwarfism-causes-treatments

Dwarfism. (n.d.). Retrieved April 10, 2016, from http://www.mayoclinic.org/diseases-conditions/dwarfism/basics/causes/con-20032297

Fallon, L., "dwarfism." The Columbia Encyclopedia, 6th ed.. 2016, "Dwarfism." Allusions--Cultural, Literary, Biblical,;Historical: A Thematic Dictionary. 1986, "Dwarfism." Complete Human Diseases;Conditions. 2008, "dwarfism." A Dictionary of Nursing. 2008, & "dwarfism." A Dictionary of Biology. 2004. (2006). Dwarfism. Retrieved April 10, 2016, from http://www.encyclopedia.com/topic/dwarfism.aspx

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Dog Ownership

Posted by Heaven Mendez in Science And Society - Best - Y on Thursday, April 7, 2016 at 11:21 am

​

Aside from the benefits of having a lifelong companion, having a dog holds a lot of unexpected perks as well. To start off, a common issue with owning a pet happens to be allergies that are triggered through dander and fur, and while this is true for a lot of families, those who happen to have smaller children with a dog actually have a greater chance of not having these allergies. This is because of the exposure to these allergens from an earlier age allows the body to adapt to having them within it’s system. The child is young enough to have a buildup within their immune system, which cancels out the negative effect that an allergen can have when first entering the body, as they become quite literally immune to it. This isn’t the case for every animal, however, as cats actually have the adverse effect.

Dogs are also known for provoking happiness in many people. Petting, playing, or even simply looking at a dog triggers the brain to release a chemical called oxytocin, which inhibits an elevated mood. These levels are increased, causing a happier outlook. The same can be said for walking a dog in order to combat stress. The act of physically moving releases endorphins, a natural pain-killer which assist sleep and in turn helps sleep and lowers one’s stress. Aside from the physical aspects of it, playing with an animal is typically an enjoyable experience, which in turn generally proves to be something worthwhile in doing.

Another fun fact about owning a dog comes in the form of the immune system. As dogs are made up completely differently than humans, their bodies are made up of different bacteria types, which can vary from the bacteria found within the human body. Now, while this may sound like a bad thing, these bacteria can be passed through to their owner. This allows the immune system to create a variety of different antibodies, usually increasing the amount in the system overall, which is a good sign, as an increase in this mechanism allows one to get sick much less. Studies have shown that dog owners are less likely to get sick than their petless counterparts.

Placing this into the real world, dogs have a pretty high standing. Because of their stress reducing qualities, symptoms of depression and anxiety can be lowered for individuals  suffering from those disorders. Even suffers of depression or those with suicidal thoughts have a reason to stay alive and get active on days that appear to be too much to handle. Walking dogs can improve heart health, and can lower the risk of heart disease by lowering cholesterol, triglycerides, and blood pressure, which lowers the chances of future heart attacks. Emotional support dogs and seeing eye dogs are beneficial to those with vision problems, or those who have emotional disabilities, and can prove to be quite useful in these situations. Dogs can also be social object, as different breeds can often be used as a conversation starter, allowing those who wouldn’t normally socialize to have the chance to do so. Did I mention how adorable dogs are in general?

This relates back to myself in a lot of different ways. While I’m not a dog owner myself, I do have a guinea pig, which could technically be considered the same thing. Having a dog would greatly improve my emotional and social life, as well as allow me to be more physically active, as playing with a dog isn’t a super intense workout, but provides just the right amount of physical activity. The dogs I know are already extremely friendly and really entertaining. All of this, plus every other benefit really makes getting a dog a great addition to future plans! Not only are they extremely cute and cuddly, but they provide a lifetime of really awesome benefits!


Sources Cited 

Alleyne, R. (2010, September 29). Pet dogs reduce allergies in children, but cats increase them. Retrieved April 07, 2016, from http://www.telegraph.co.uk/news/health/news/8032594/Pet-dogs-reduce-allergies-in-children-but-cats-increase-them.html


Hoffer, S. (2011, July 13). Study Shows Pet Ownership Has Psychological Benefits. Retrieved April 07, 2016, from http://www.huffingtonpost.com/2011/07/13/pets-psychological-benefits-study_n_897022.html


O'Connor, A. (2013, May 09). Owning a Dog Is Linked to Reduced Heart Risk. Retrieved April 07, 2016, from http://well.blogs.nytimes.com/2013/05/09/heart-association-weighs-in-on-pets/?_r=0


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Diabetes

Posted by Alejandro Bautista-Garcia in Science And Society - Best - Y on Tuesday, April 5, 2016 at 11:00 am

5 Minutes of Science
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Braille Literacy

Posted by Jade Schweitzer in Science And Society - Best - Y on Monday, April 4, 2016 at 2:55 pm

​Braille is a system of writing, reading, and overall communication for blind or visually impaired people. While I knew that I was wondering what else there was to know about Braille. There are currently three styles of Braille, although the basic structure of Braille is made in cells of six, whichever dots are raised corresponds to a letter, and in a single cell there are 36 unique combinations that can be made. Now Braille because it can't actually be physically spoken is technically not a language, and the overall availability of Braille 'speakers' and teachers is scarce. Most blind or visually inhibited people (up to 75% of them) can actually read print, so Braille is almost unnecessary. To write Braille you need a slate and a stylus, a machine that resembles a typewriter, and is really slow to use and produces a lot of noise. Because you need this special tool to create readable Braille text it is more difficult to make universally available for those in need. 

Sources:

http://blog.ncpad.org/2012/01/20/15-facts-to-share-during-braille-literacy-month/

https://nfb.org/images/nfb/publications/fr/fr15/issue1/f150113.html

https://www.bssbank.com/begreat/great-cap-moments/5-interesting-facts-braille-honor-braille-literacy-awareness-month

http://www.sunrisegroup.org/braille-literacy-awareness-month/

http://www.afb.org/info/about-us/press-room/document-2000/125

http://www.nbp.org/



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Autism

Posted by Nicholas Lepera in Science And Society - Best - Y on Friday, April 1, 2016 at 10:59 am

The Autism Spectrum is a description for a wide variety of brain disorders that impair fine motor skills, socialization, and communication skills. As someone with Autism my life has been quite difficult and still continues to be difficult, however, for many people on the spectrum we are able to hyper focus on our interests and excel at them. There is no cure, but speech, occupational, and physical therapy are all things that can be used to help someone on the spectrum. We often live fixed schedules and follow a routine and change can be intrusive to us. In society we do not have heavy support or groups to back us. In recent years however, more and more programs have opened up but with limited support and or reach. However, here at SLA I have received a lot of support and this is something great for myself and fellow people on the spectrum. In reference to society, all that needs to be done is raise more awareness and support for my people and while accepting of us, do not treat us wholly different from our peers. We need to be involved in order to grow as people and this can only happen through the means of support of the common people. 
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Lead Poisoning

Posted by Nebil Ibrahim in Science And Society - Best - Y on Saturday, March 19, 2016 at 8:40 pm

Lead poisoning is very dangerous and most people know that if something has high amounts of lead, they should probably steer clear of it. Even with that not many people know why that is the case. Lead is a very dangerous element because of how reactive it is. It replaces metals such as zinc in iron in the chemical reactions that take place in our body. While they do replace metals in chemicals they also cause genes to be turned on and off which can have catastrophic effects on the body. It also inhibits proteins such as the ones related to the control of blood pressure and sperm production in males. It accumulates in the body so lead poisoning can take place over years and gets worse if not treated. The effects of lead poisoning include decreased bone and muscle growth, poor muscle coordination, damage to the nervous system kidneys, and/or hearing, speech and language problems, developmental delay, seizures, and unconsciousness. Many of these side affects are associated with children because they are undergoing several critical periods which lead poisoning interferes with.

Children are more susceptible and are more likely to get it because of the frequency at which they put things in their mouth. Some toys and even paint chips which contain lead and it is not uncommon for children to have to go to the emergency room because of it. The government tries to hide the level of lead in products which parents need to know to protect their children. The most recent scandal involving the government hiding their knowledge of lead was in Flint, Michigan. The city had lead their water for 2 years before the people knew about it and while the government did know they did nothing about. According to a study done at Virginia Tech where they took water samples from homes in Flint, Michigan the 90th percentile of their samples contained 25 parts per a billion as opposed to the EPA's legal limit of 15. The citizens are now reacting and are asking for those who are responsible to be held accountable. People all across the country are now checking their water for lead content with a surprising amount finding them high.

Personally I don't think Philly would ever let itself have this much of a lead problem. What I could envision is a small accident that they don't catch in time to warn the people who use the water of what is happening. Lead poisoning is of greatest concern in factories as many electronics use lead. In China, there are also several children who work in factories and are very susceptible to lead poisoning. Lead poisoning can easily be prevented by educating people about it.

Sources:

http://www.newsworks.org/index.php/thepulse/item/91696-life-after-lead-one-familys-story-

http://kidshealth.org/en/parents/lead-poisoning.html#

http://flintwaterstudy.org/tag/lead/

http://www.cnn.com/2016/01/21/health/lead-testing-home-drinking-water/

http://chemistry.about.com/od/howthingsworkfaqs/f/leadpoisoning.htm


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Mycorrhiza and the Wood Wide Web

Posted by Claudia Bonitatibus in Science And Society - Best - Y on Wednesday, March 16, 2016 at 8:46 pm

    Mycelia is the body of a fungus that connects to roots of plants. Mushrooms are just the reproductive part of the fungus as flowers are to plants. There are many different subcategories of mycelia and for this post I will be focussing more or less exclusively on mycorrhiza. The mycorrhizal connection forms what is referred to as the “wood wide web” and allows trees, shrubs, and plants of all types to share information and nutrients with their neighboring plants. Experiments have shown that carbon, nitrogen, and phosphorus can be passed along underground between plants which would account for the survival of small plants on the forest floor which are too deeply shaded to make enough food through photosynthesis.


Experiments have also shown that mycorrhizae are efficient transport systems for chemical messages between plants. One plant can signal others in the vicinity when there is a pest and natural repellents are needed so that others can start producing the needed chemicals before there is a full blown infestation. These are just two of the functions of mycorrhizae that we have discovered. There may be even more. We do know however that plants with a strong underground system of mycorrhizae are healthier than their counterparts.


Plants and mycorrhizae have a symbiotic relationship, meaning that they both support each other. While the plants provide the mycorrhizae with carbohydrates, the mycorrhizae help supply the plants with water, nitrogen, and phosphorous. The mycorrhizae also helps boost the plant’s immune system by triggering  chemicals that help defend it from harmful bacteria or diseases. The health of plants is essential especially when it comes to cleaning the air of carbon dioxide and repurposing pollution into oxygen.


Mycorrhizae also help to reform soil. Mycelium are what can break down rocks and mineral and turn them into nutrient rich soil. Regenerative agriculture is better than simply sustainable agriculture in that it depends on nature’s tendency to revert to a closed nutrient loop, greater biological diversity and a reliance on internal rather than external resources. The mycorrhizae are part of the healthy soil that makes regenerative agriculture possible, because in a healthy soil, plants can handle drought, insect attacks and nutrient absorption without chemicals from external sources. This kind of farming results in no nutrient runoff or pollution of waterways because regenerative soil retains its nutrients.


    The “wood wide web” works similarly to the human brain. The mycorrhizal connections are similar to the neurons in how they transfer signals and chemicals. Another way I can relate to mycorrhizae is through horticulture. I have always been intrigued by plants and this information has completely altered my perspective of my surroundings.

   


References:

Fleming, N. (2014, November 11). Plants Talk to Each Other Using an Internet of Fungus. Retrieved March 16, 2016, from http://www.bbc.com/earth/story/20141111-plants-have-a-hidden-internet


Giovannetti, M., Avio, L., Fortuna, P., Pellegrino, E., Sbrana, C., & Strani, P. (2006, January). At the Root of the Wood Wide Web: Self Recognition and Non-Self Incompatibility in Mycorrhizal Networks. Retrieved March 16, 2016, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633692/


Stamets, P. (2016, March 16). Mushrooms as Medicine. Lecture presented at Exponential Medicine. Retrieved March 16, 2016, from Fleming, N. (2014, November 11). Plants Talk to Each Other Using an Internet of Fungus. Retrieved March 16, 2016, from http://articles.mercola.com/sites/articles/archive/2016/03/14/mushroom-healing-power.aspx?e_cid=20160314Z1_DNL_art_3&utm_source=dnl&utm_medium=email&utm_content=art3&utm_campaign=20160314Z1&et_cid=DM100397&et_rid=1398413319




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Let's Get Wise

Posted by Dillon Hershey in Science And Society - Best - Y on Wednesday, March 9, 2016 at 12:21 pm

​Wisdom teeth are the last set of molars in your mouth and they usually erupt between the ages of 17-25. Anthropologists believe that these teeth were for the grinding of roots and meat that were in our ancestors’ diets. Because of the modern diet and silverware, we don’t need the teeth anymore and dentists recommend getting them removed between the ages of 15-17. If they aren’t removed and they erupt, they can cause problems like overcrowding and bacterial infection. Even if the teeth don’t erupt, they can cause cysts and tumors in the gums. These problems are because our mouthes and jaws have become smaller because of evolution. 
In wisdom teeth that are pulled, scientists can extract the dental pulp that is inside the tooth which contains stem cells. Stem cells are important because they are cells that can be turned into other cells to help cure diseases or problems. The stem cells that are in the teeth can help with curing bone and cartilage diseases, type 1 diabetes, and neurological diseases. An important way that these stem cells can help someone are by being used in corneal transplant. Corneal transplants are needed when the cornea of the eye is cloudy, resulting in vision problems and blindness. In a corneal transplant, the cornea is removed and replaced with one from a donor. While this works for the most part, there are cases where the eye rejects the transplant or there isn’t a donor cornea. Scientists have found that the stem cells in the teeth can be made into corneal stromal cells also called keratocytes and that these cells can be used instead of a donor cornea. The scientists tried this procedure out on mice and it worked without rejection.
These findings are very useful because this can prevent people from freaking out about stem cell research with embryos because now there is an alternative. This is also good because it provides a solution for the lack of cornea donors and it can result in more people with better eyesight. Since almost everyone gets their wisdom teeth taken out, there isn't a lack of supply of stem cells and the procedure isn't as controversial.

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