tag:blogger.com,1999:blog-32111430122046885412024-03-13T15:43:11.379-07:00Got Down Syndrome's BlogQadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.comBlogger586125tag:blogger.com,1999:blog-3211143012204688541.post-18471169612039274942019-06-05T13:07:00.001-07:002019-06-05T13:07:21.192-07:00NEW Website Links: GotDownSyndrome.comHello Down Syndrome Community,<br />
<br />
Very rarely do I blog or spend much time researching anymore, due to my 3 children 3 years old and under, as well as working at home as a marketing manager for an animation company. But, all that aside, I recently had a slip up with the domain name we've used for the last 10+ years for GotDownSyndrome.net and it accidentally expired. So, I had to move everything over to GotDownSyndrome.com. So, all files and resources are still on there and accessible, but they are just on GotDownSyndrome.com instead of .net. Any links and resources you may have, please update to GotDownSyndrome.com! My apologies for the inconvenience, but I hope everyone is able to find the resources still.<br />
<br />
It is on my long to-do, or rather wish list, to revise the <a href="http://www.gotdownsyndrome.com/rebuttal.html">rebuttal</a> we put together some years ago, as well as revise <a href="http://www.gotdownsyndrome.com/whatyoucandobook">our book</a>. Some day I may do so, but for the time being, I think there is plenty of resources here on this blog and in the rebuttal and book.<br />
<br />
My brother, Osiyyah, is now 14 years and doing quite well. He is an uncle to 10 nieces and nephews and is such a great uncle. They all love him dearly. My parents (and their youngest 6 kids, at this point) and my little family of 5 live right next door to each other, so we are able to see each other often. We're all quite blessed to have O in our lives.<br />
<br />
Until later!<br />
-Qadoshyah<br />
<br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com0tag:blogger.com,1999:blog-3211143012204688541.post-9714453352747456912015-04-10T08:44:00.000-07:002015-04-10T08:44:00.091-07:00Life Changes...Well, it's been awhile since any posting has been done on here. Life changes, to say the least. I recently got married, so the research and blogging about Down syndrome has taken a back burner, to say the least. So, I'll leave this post with some good links for people to contact those who may be more up to date on Down syndrome research, as well as the links as to where to purchase or download the book.<br />
<br />
Our book can be ordered at the link below:<br />
<br />
Down Syndrome: What You CAN Do book<br />
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<br />
Some good links with educated individuals to talk to and message boards are below:<br />
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Einstein Syndrome website and listserv: <a href="http://www.einstein-syndrome.com/">http://www.einstein-syndrome.com/</a> (the best resource we found when my brother was little)<br />
DSTNI Yahoo! Group: <a href="http://groups.yahoo.com/group/DSTNI/">http://groups.yahoo.com/group/DSTNI/</a><br />
Down Syndrome OPTIONS/Andi Durkin: <a href="http://downsyndromeoptions.org/">http://downsyndromeoptions.org/</a><br />
<br />
Hope this helps people with the research they are looking for and their little ones with Down Syndrome.<br />
<br />
So, I'll leave this post with a picture of my hubby and I:<br />
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<a href="http://2.bp.blogspot.com/-E8F-_6YWggo/VSfvT-0ueoI/AAAAAAAAEQo/KNTj0rQnEZo/s1600/A-DSC_1066-small.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="http://2.bp.blogspot.com/-E8F-_6YWggo/VSfvT-0ueoI/AAAAAAAAEQo/KNTj0rQnEZo/s1600/A-DSC_1066-small.jpg" height="640" width="425" /></a></div>
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com2tag:blogger.com,1999:blog-3211143012204688541.post-10120242366093916802013-10-11T14:22:00.000-07:002013-10-11T14:22:18.983-07:00Trisomy 21 Down Syndrome Awareness Locket GIVEAWAYWell, hello, everyone! It's been awhile since I've blogged. Amazing how fast time flies by. Before I knew it, it was October again. What comes with October? Down Syndrome Awareness Month.<br />
<br />
For the last few years I've done the 31 for 21 blog challenge - where you blog every day for Down syndrome. This year though, the time snuck up on me and I totally forgot about 31 for 21, until just a few days ago! Sooooo, oh well.<br />
<br />
In honor of Down Syndrome Awareness month, I am going to do a special giveaway! One of my website clients runs an online jewelry store called <a href="http://www.creativeelements4you.com/" target="_blank"><b>Creative Elements 4 You</b></a>. She has living life lockets & floating locket charms. I've had the opportunity to photograph many of her items for her website. And, since she heard I had a brother with Down syndrome, she made several custom Trisomy 21/Down Syndrome lockets and jewelry pieces. There's a <a href="http://www.shop.ce4u.net/Special-Needs_c48.htm" target="_blank">whole special section on her website for Special Needs now</a> :). Pretty cool!<br />
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When I was taking photographs of the T21 jewelry pieces for the website, this one below caught my eye, so I traded her for it. It has 'T21' stamped on one tag and 'Wonderfully made' stamped on the other tag. Perfect!<br />
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But, each of the T21 pieces she has are beautiful! <br />
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So, I have one of her beautiful lockets here to give away. This giveaway starts NOW and ends October 31, 2013 at 11:59pm. One winner will be chosen, announced on the blog and contacted by email.<br />
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There's a few ways to enter the giveaway below. You can enter up to 8 times! After the initial entry below, you will see all 7 bonus entries and can choose to do as few or as many of them as you'd like.<br />
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1) Enter with your email in the form below (required)<br />
--Bonus entries:<br />
2) Like 'Creative Elements 4 You' on Facebook (optional)<br />
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5) Follow me (Qadoshyah) on Twitter (optional)<br />
6) Tweet this giveaway (optional)<br />
7) Follow me (Qadoshyah - CountryGirlDesigns) on Instagram (optional)<br />
8) Re-blog this giveaway on your own blog and put the link in the giveaway bonus box below (optional). Put it on your blog by linking to this post or by using this code:<br />
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Have fun and spread the word! <br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com0tag:blogger.com,1999:blog-3211143012204688541.post-52742657566001368512013-07-19T12:09:00.000-07:002013-07-19T12:09:01.511-07:00Scientists find way to silence extra chromosome that causes Down syndrome<div style="text-align: center;">
<span style="font-size: large;"><b><a href="http://www.foxnews.com/health/2013/07/17/scientists-find-way-to-silence-extra-chromosome-that-causes-down-syndrome/?test=latestnews" target="_blank">Scientists find way to silence extra chromosome that causes Down syndrome</a></b></span></div>
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<br />For patients suffering from Down syndrome, the source of their condition can be traced back to just one extra chromosome inherited during development – chromosome 21.<br /><br />While it is still unclear exactly how this extra copy causes the symptoms of Down syndrome – also known as trisomy 21, its presence in a person’s genetic code is associated with delayed cognitive ability, slowed physical development and a whole host of health conditions, including congenital heart disease, cancer and early on-set Alzheimer’s.<br /><br />But now, researchers say they have found a way to turn off the extra copy of chromosome 21.<br /><br />In a new study published online in the journal Nature, scientists from University of Massachusetts Medical School (UMMS) harnessed the abilities of a naturally occurring gene called XIST that acts as an “off switch” in X chromosomes. In a culture of stem cells, the researchers were able to repurpose the XIST gene so that instead of silencing X chromosomes, it silenced the extra chromosome 21 instead.<br /><br />Though the research only shows proof-of-principle for turning off the chromosome – meaning the method is a long way from being utilized in humans – the findings have huge implications for the future of Down syndrome research. Researchers hope this study will pave the way for a better understanding of the disorder’s pathology and potentially help to create new therapeutic targets for therapies.<br /><br />“This is the beginning of this idea, and we’re hoping more investigators get interested,” lead researcher Jeanne Lawrence, professor of cell and developmental biology at UMMS, told FoxNews.com. “… We used epigenetics, a new concept, to change the way the DNA is expressed, not changing the DNA itself. This could have a lot of promise in other ways for Down syndrome and other disorders.”<br /><br />Each human inherits 23 chromosomes from their mother and 23 from their father, equaling 46 chromosomes in each cell. Individuals with Down syndrome inherit three (instead of two) copies of chromosome 21, which ultimately causes their “trisomy 21.” <br /><br />According to Lawrence, the team’s method for silencing this chromosome was inspired by a naturally occurring process that occurs in women every day.<br /><br />“What’s important in biology is not that you have the right sequence to your DNA, but you have the right balance of DNA,” Lawrence said. “Women have two X chromosomes and men have one X and Y. Since the Y chromosome lacks a lot of the genes in the X chromosomes, women have more expression of X chromosome genes than men – well that wouldn’t work biologically. So nature had to devise a mechanism to equalize that.”<br /><br />Lawrence had contributed to a previous study, which had identified that mechanism as the XIST gene, a piece of DNA located in the X chromosome that controls whether or not the chromosome can be silenced. The XIST gene makes a unique non-coding RNA, which accumulates in the nucleus of the cell of the chromosome, triggering changes to the way the chromosome is packaged within the cell. This ultimately renders the chromosome inactive – preventing its DNA from producing proteins and other components.<br /><br />Hoping to recreate this effect, Lawrence and first author Dr. Jun Jiang, along with UMMS colleague Dr. Lisa Hall, devised a way to insert the XIST gene into the extra chromosome 21 of trisomic cells. In a culture of pluripotent stem cells derived from the skin cells of a Down syndrome patient, the XIST gene was inserted into the chromosomes through the use of zinc finger nuclease (ZFN) technology. The technique ultimately allowed them to cut each chromosome at a specific location in its sequence and then paste the gene into that cut site.<br /><br />“(Once the gene was inserted), we split the cultures, and took half the cells and turned on the XIST gene to silence the chromosome and (in) the other half we didn’t do that,” Lawrence said. “Then we directly compared how the cell behavior changes…and the neural progenitor cells formed much more quickly in the (cultures) that we had silenced. So you can quickly start to say, ‘What are the pathologies of the different cells and the different organs?’”<br /><br />According to Lawrence, the success of their findings will ultimately help researchers better understand the different cell pathologies in patients and how the disorder progresses during development. She also noted the more significant implication of their research: that it could ultimately lead to the utilization of chromosome therapies in Down syndrome patients. However, it may be many years before these treatments are realized.<br /><br />Approximately 6,000 babies with Down syndrome are born each year in the United States, according to the Centers for Disease Control and Prevention. Risk factors for Down syndrome include having a parent with a chromosomal disorder or having a sibling with Down syndrome or another chromosomal disorder. However, the mechanisms behind the condition are still largely unknown. Lawrence hopes that her lab’s findings will help get more people interested in better understanding the disorder.<br /><br />“Down syndrome hasn’t received as much attention for therapeutics, partly because it’s so complex and there (are) other procedures people use to treat it,” Lawrence said. “Also, people think Down syndrome is going away, but it’s not going away. I think it’s good if this can help draw attention to research (for the disorder).”<br /><br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com2tag:blogger.com,1999:blog-3211143012204688541.post-29269196881485830712013-07-11T06:24:00.001-07:002013-07-11T06:24:15.084-07:00Hundreds Offer To Adopt Baby With Down Syndrome To Save It From AbortionAmazing to see so many people offer to save a child prenatally diagnosed with Down syndrome. If only more families would offer their baby up for adoption, as there are hundreds of families waiting to adopt a baby with DS.<br />
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Of course there will be negativity to this also, as I saw one article that was totally hating on the idea of saving a baby with Down syndrome from an abortion. So sickening. Reminds me of <a href="http://www.reverbnation.com/aVoiceOfJustice/song/17696533-read-all-about-it" target="_blank">this song</a>.<br />
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<a href="http://www.washingtontimes.com/news/2013/jul/9/hundreds-call-to-adopt-down-syndrome-baby-save-it-/#ixzz2Yk6z8En1" target="_blank">Hundreds call to adopt Down syndrome baby, save it from abortion</a><br /><br />
When the Rev. Thomas Vander Woude learned about a young couple planning to abort their unborn baby that had been diagnosed with Down syndrome, the priest reached out and offered a deal: Deliver the child and he would help find an appropriate adoptive family.<br /><br />But he had to act fast.<br /><br />The woman, who has not been identified for her privacy and her protection, was just shy of six months pregnant and lives in a state that prohibits abortions past 24 weeks — which meant he had a short time to find a family willing to make a lifelong commitment.<br /><br />So Father Vander Woude, the lead pastor at Holy Trinity Catholic Church in Gainesville, Va., approached a volunteer who helped manage the church’s social media pages, and she posted an urgent plea on Facebook early Monday morning.<br /><br />“There is a couple in another state who have contacted an adoption agency looking for a family to adopt their Down Syndrome unborn baby. If a couple has not been found by today they plan to abort the baby. If you are interested in adopting this baby please contact Fr. VW IMMEDIATELY,” the post read. “We are asking all to pray for this baby and the wisdom that this couple realize the importance of human life and do not abort this beautiful gift from God.”<br /><br />The post asked people to call the church’s office after 9:30 a.m. Monday or to email Father Vander Woude.<br /><br />No one expected the response they received.<br /><br />“When we got in and opened up around 9:30, it was nearly nonstop. All day long, we were receiving phone calls from people who wanted to adopt the baby,” church staff member Martha Drennan said. “Father Vander Woude has gotten over 900 emails in regard to the baby.”<br /><br />The offers were narrowed to three families, which the unborn child’s parents are reviewing with the help of an adoption agency.<br /><br />Ms. Drennan said the church received phone calls from all over the United States and around the world, including from England, Puerto Rico and the Netherlands.<br /><br />“I think it is a wonderful use of social media, that word can so quickly get all over the country and even to foreign countries and that the people who see the value of life are stepping up and saying, ‘I will take that baby and raise that baby as mine,’” Ms. Drennan said. “It was a beautiful witness all day long that so many people wanted this child and believed in the dignity of that child — Down syndrome or not.”<br /><br />The president and founder of the International Down Syndrome Coalition, Diane Grover, stressed the importance of informing couples who are considering abortion for babies with Down syndrome that adoption is a viable option, pointing to the fast and overwhelming response her organization received about this one unborn child as an amazing example.<br /><br />“When [couples are] in that position, a lot of people wonder if their child [with Down syndrome] would actually get adopted,” Ms. Grover said. “There’s a lot of people waiting, and we are happy to always help.”<br /><br />David Dufresne, a seminary student who plans to become a priest next year, volunteered to help the overwhelmed church staff take calls.<br /><br />“I was taking calls for about three hours straight, just talking to people who are willing to adopt this little baby they never knew about until that morning,” Mr. Dufresne said. “I mean, all day long, just receiving phone calls from people who were so generous and within a couple minutes made a life-changing decision. I was really inspired by the goodness of people and what they would do to save a life.”<br /><br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com2tag:blogger.com,1999:blog-3211143012204688541.post-71919836067126925852013-07-09T11:37:00.001-07:002013-07-09T11:37:40.117-07:00Drug Improves Cognitive Function in Mouse Model of Down SyndromeThis was posted on the DSTNI listserv by Richard and I thought I'd share here:<br />
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</xml><![endif]--><span style="font-family: "Times New Roman","serif"; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin;">Drug Improves
Cognitive Function in Mouse Model of Down Syndrome<br />
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July 2, 2013 — An existing FDA-approved drug improves cognitive function in a
mouse model of Down syndrome, according to a new study by researchers at the
Stanford University School of Medicine.<br />
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The drug, an asthma medication called formoterol, strengthened nerve
connections in the hippocampus, a brain center used for spatial navigation,
paying attention and forming new memories, the study said. It also improved
contextual learning, in which the brain integrates spatial and sensory
information.<br />
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Both hippocampal function and contextual learning, which are impaired in Down
syndrome, depend on the brain having a good supply of the neurotransmitter
norepinephrine. This neurotransmitter sends its signal via several types of
receptors on the neurons, including a group called beta-2 adrenergic receptors.<br />
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"This study provides the initial proof-of-concept that targeting beta-2
adrenergic receptors for treatment of cognitive dysfunction in Down syndrome
could be an effective strategy," said Ahmed Salehi, MD, PhD, the study's
senior author and a clinical associate professor of psychiatry and behavioral
sciences. The study will be published online July 2 in Biological Psychiatry.<br />
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Down syndrome, which is caused by an extra copy of chromosome 21, results in
both physical and cognitive problems. While many of the physical issues, such
as vulnerability to heart problems, can now be treated, no treatments exist for
poor cognitive function. As a result, children with Down syndrome fall behind
their peers' cognitive development. In addition, adults with Down syndrome
develop Alzheimer's-type pathology in their brains by age 40. Down syndrome
affects about 400,000 people in the United States and 6 million worldwide.<br />
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In prior Down syndrome research, scientists have seen deterioration of the
brain center that manufactures norepinephrine in both people with Down syndrome
and its mouse model. Earlier work by Salehi's team found that giving a
norepinephrine precursor could improve cognitive function in a mouse model
genetically engineered to mimic Down syndrome.<br />
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The new study refined this work by targeting only one group of receptors that
respond to norepinephrine: the beta-2 adrenergic receptors in the brain. The
researchers began by giving mice a compound that blocks the action of beta-2
adrenergic receptors outside the brain. They then gave the mice formoterol, a
drug that can partially cross the blood-brain barrier and that was already
known to activate beta-2 adrenergic receptors. Because people with Down
syndrome are prone to heart problems, the researchers avoided activating a
different group of norepinephrine-sensitive receptors, the beta-1 adrenergic
receptors, which predominate in the heart.<br />
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The scientists saw improvement on a standard test of contextual learning in
mice. In contextual learning, the brain integrates sensory and spatial
information to remember the layout of a complex environment: for instance, a
person using sounds, smells and sights to remember the location of a store in a
shopping mall is using contextual learning. The researchers also saw more
synapses and a more complex structure of dendrites, the nerves' outgoing ends,
in the hippocampus after the affected mice received formoterol.<br />
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"The fact that such a short period of giving medication can make these
neurons much more complex is very interesting," Salehi said, noting that
mice in the study received the drug for a maximum of two weeks.<br />
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Further tests will be needed to determine whether formoterol might be an
appropriate treatment for people with Down syndrome or whether to use another
drug that activates the same receptors, Salehi said. The dose used in this
study was many times higher than that used for asthma treatment, he cautioned,
so it is not known whether it is safe. A lower dose might work, or other drugs
that affect beta-2 adrenergic receptors might be safer and more effective in
humans. Researchers also want to explore what parts of learning -- taking in
new information, remembering it or both -- are affected by the drug treatment.<br />
<br />
Prior research to improve cognitive function in children with Down syndrome has
sometimes raised concerns from families that cognitive treatments would alter
positive attributes of these children's personalities, but Salehi said that is
not the goal of his team's research.<br />
<br />
"Our aim is to enable these children to do better in school," Salehi
said. "It is absolutely not to change their personalities or the way they
react to society." Changing a child's personality would be much more complicated
than activating a subgroup of receptors in the brain, he said.</span><!--[if gte mso 9]><xml>
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<a href="http://www.countrygirlwebdesign.com/blogsiggy.png" target="_blank"><img alt="Country Girl Designs" border="0" src="http://www.countrygirlwebdesign.com/blogsiggy.png" /></a>
<br />
<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com1tag:blogger.com,1999:blog-3211143012204688541.post-75716460868267682522013-07-02T09:00:00.000-07:002013-07-02T09:00:00.573-07:00Jumpy Monkey Coffee - Helping Individuals with Disabilites Get A JobThis came across the Einstein-Syndrome listserv last week and I thought I'd share:<br />
<br />
<blockquote class="tr_bq">
On Hatteberg's People, creating a meaningful and enriching life for the
developmentally disabled is the goal of a non-profit company called
Mosaic in Winfield. In a unique relationship, they are partnering with
local businesses to enrich the lives of the Mosaic clients, and the key
is.... coffee.</blockquote>
<br />
<iframe allowfullscreen="" frameborder="0" height="360" src="//www.youtube.com/embed/salVAnfv-Ks" width="640"></iframe>
<br />
<br />
<br />
<a href="http://www.countrygirlwebdesign.com/blogsiggy.png" target="_blank"><img alt="Country Girl Designs" border="0" src="http://www.countrygirlwebdesign.com/blogsiggy.png" /></a>
<br />
<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com0tag:blogger.com,1999:blog-3211143012204688541.post-91280003868314321182013-07-01T12:06:00.001-07:002013-07-01T12:06:19.238-07:00Young Man with Down Syndrome Gets His Driver's License - John MarrsI've posted a <a href="http://gotdownsyndrome.blogspot.com/search/label/john%20marrs" target="_blank">few times about John Marrs</a>, via updates from his mom, Jenny, over the years. John has recently graduated highschool and is now going to a local college. This is the most recent update which his mom shared:<br />
<br />
<blockquote class="tr_bq">
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John went into the DMV and took his driver's test
yesterday. In IL a student starts driver's training as a 15 year old. You must
pass the written portion of the IL test before you get your permit to drive
with an adult, which John did. Then, if the driver's ed teacher sees fit, the
student is given a license following his 16th birthday. Our teacher was not our
best friend. So, John had to wait until after he was 18 to test at the DMV. We
finally got around to taking him in yesterday for his driver's test. When he
returned from his drive, I was told, "he is amazing!" John is now a
licensed driver!</div>
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com2tag:blogger.com,1999:blog-3211143012204688541.post-85152898554292659382013-06-24T15:36:00.002-07:002013-06-25T13:47:40.893-07:00It's Not A Choice. It's A Baby Who Just Happens To Have Down Syndrome.<div style="text-align: left;">
Every few months I get a call from someone who either has just received a diagnosis of Down syndrome for their baby or is just finding out about TNI. </div>
<br />
Yesterday I received a call from a mother who is just a few months along in her pregnancy and had received a prenatal diagnosis of Down syndrome for her unborn baby. I had a good, long conversation with her about what she can do for her baby. <br />
<br />
But, some of the conversation dealt with the diagnosis, since it was still so fresh for her. She was discouraged because of the lack of support she had received and the comments to which people hinted towards abortion. She shared she had always been pro-life, so she was keeping her baby. But, I couldn’t sit here and be quiet over one of the comments she shared. I completely understand why she would be discouraged by the comments she has received.<br />
<br />
She shared that one of her co-workers had said, "I'm so sorry! That is one of the worst things that could ever happen to you!"<br />
<br />
*sigh* <br />
<br />
People need to stop and think about what they are saying. This mother is in the very small percentage – 8% - of families who keep their baby after a prenatal diagnosis of Down syndrome. Yes, that’s right, 92% of babies prenatally diagnosed with Down syndrome have their hearts stopped by abortion and are thrown away as if they are not human.<br />
<br />
People act like it’s the end of the world to have a child with Down syndrome. Really, folks, when that child is born, it is <b>just.a.baby</b>. That <b>baby</b>, has eyes, ears, a nose, a mouth, hands, feet, legs, arms, just like you and me. It’s a human. That baby wants to be held and loved by its mother as every other newborn does. That baby needs love and care. It needs its diaper changed. That newborn depends on its mother just like every other baby born does, for love, care, nourishment, protection and its voice. You or I could’ve been born with a third chromosome. That child did not choose to have a third 21st chromosome. God chose to give that child an extra chromosome. It’s time to lighten up, start loving, have compassion on that unborn <b>life</b>, be that baby’s voice and realize that <b>all</b> children are a blessing.<br />
<br />
You know what, just because someone might take life a little slower, doesn’t justify ending that baby’s life. It can be a good thing to slow down and appreciate the small things in life more. <br />
<br />
Sure, there are health concerns that are associated with Down syndrome. The concern for that is understandable, but does that justify snuffing out that little one’s life? To kill a helpless life that cannot speak for itself? No, it’s time to help that child and be that child’s voice, to protect and care for that baby. <br />
<br />
Someone can end that life within their womb because of a diagnosis of a third chromosome. But, it’s not justified, it is wrong and they will be held accountable for their acts. God gave that mother a gift. It’s not a choice. It’s a life. It’s a child. It’s a <i>helpless baby</i>.<br />
<br />
I look at my brother and see what a huge blessing he has been from the moment he was born. I cannot even begin to fathom how someone could be so cold to kill (abort) such a helpless life, who had nothing to do with having an extra chromosome. Society has promoted that it’s the “mother’s choice”, but no one seems to remember that there is a baby inside of that womb who is a person. Where is that baby’s choice? <br />
<br />
Instead of falling into the 92% of families who abort their babies who are prenatally diagnosed with Down Syndrome, I beg any expectant mothers who run across this blog, to protect that baby who is prenatally diagnosed and be a voice for that baby. <br />
<br />
Let's celebrate this baby, who just happens to have a diagnosis of Down syndrome, and sing its birthday song when it's born. Instead of being another birthday song that is unsung, because a child was thrown away, torn up and had its heart stopped. Simply because someone didn’t have the love to care for a child who was a little different.<br />
<br />
As I sit here and type through the tears, I realize this post may upset some people, but I will not apologize for speaking up for those babies whose hearts are stopped at the hand of violence, and who suffer for wrong, cloaked in the name of ‘choice.’ I’m not afraid to speak up for the unborn babies who have their bloodshed and are torn up by such a shameful, heartless act. Because it’s not her choice, therefore I will not keep silent.<br />
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<iframe allowfullscreen="" frameborder="0" height="360" src="http://www.youtube.com/embed/PhIV1wJzzSE" width="480"></iframe><br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com5tag:blogger.com,1999:blog-3211143012204688541.post-83057938934482580902013-06-21T12:35:00.001-07:002013-06-21T12:35:17.473-07:00DYRK1A Overexpression Linked to HypothyroidismGreen Tea Extract, <a href="http://gotdownsyndrome.blogspot.com/2013/03/green-tea-extract-egcg-benefits-it-has_24.html" target="_blank">EGCG, is a safe DYRK1A inhibitor</a>. Which is one of the many reasons EGCG is so beneficial for people with DS. <br /><br />Well, a new study is out which shows the overexpressed DYRK1A gene being linked to hypothyroidism in Down syndrome. Read below:<br />
<br />Dyrk1A (dual-specificity thyrosine (Y)-phosphorylation regulated kinase 1A) overexpression is linked to congenital hypothyroidism in Down syndrome<br />
<br />
<a href="http://www.endocrine-abstracts.org/ea/0029/ea0029p1609.htm" target="_blank">http://www.endocrine-abstracts.org/ea/0029/ea0029p1609.htm </a><br />
<br />
<br />
<br />D. Kariyawasam1, M. Martin-Pena1, L. Rachdi1, A. Carré5, M. Houlier1, C. Dupuy5, N. Janel4, J. Delabar4 & M. Polak1,2,3<br />
<br />Introduction: Trisomy 21 or Down Syndrome (DS) patients have a predisposition for Congenital Hypothyroidism which can aggravate their mental status.<br />
<br />Hypothesis: The presence of three copy of Dyrk1a gene, localized in chromosome 21 in Humans, is responsible for a thyroidal dysgenesis.<br />
<br />Our aim is to understand the molecular mechanisms underlying this condition.<br />Methods: The transgenic Dyrk1a (TgDyrk1a) mouse, our DS murine model, contains three copies of the Dyrk1a gene and was obtained through electroporation of a Bacterial Artificial Chromosome containing the entire gene with its own regulatory sequences. We studied their thyroidal phenotype in young adults (8–13 weeks old) by histology, immunohistochemistry and blood T4 hormonal dosages, reflecting the thyroidal function. We compared the thyroidal molecular phenotype of the TgDyrk1a and wild type mice: RNA levels of molecules involved in the thyroidogenesis were studied by qRT-PCR at different embryonic stages.<br />
<br />Results: The average surface of thyroidal follicles in young adult TgDyrk1a mice is smaller (TgDyrk1a: 2164 μm2 versus wild type: 1420 μm2; P=0.005; n=6). They presented also a lower plasmatic T4 (TgDyrk1a: 2.4 ng/ml versus wild type: 3.7 ng/ml; P=0.019; n=14). The overexpression of Dyrk1a in the thyroids leads to an elevation of RNA level expression of Nkx2-1, Foxe1, Thyroperoxidase and Thyroglobulin, involved in thyroidogenesis, at E13.5 and E17.5.<br />Conclusion: Our first results show an abnormal thyroid function and histology in young adult TgDyrk1a mice and an overexpression of thyroidal developmental molecules. To further understand the molecular mechanism linking Dyrk1a overexpression to altered thyroid folliculogenesis and function we are studying some candidates as direct targets of Dyrk1a using thyroidal cell lines.<br />Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.<br />
<br />Funding: This work was supported. Supported by Sandoz SAS, EDF and the Fondation Lejeune. T4 dosage courtesy of Pr S Refetoff, Chicago.<br /><br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com0tag:blogger.com,1999:blog-3211143012204688541.post-79075549076337151762013-06-20T14:25:00.000-07:002013-06-20T14:25:00.069-07:00Full Text of EGCG Study on Mitochondrial Biogenesis in Individuals with Down SyndromeRemember the study that prompted <a href="http://gotdownsyndrome.blogspot.com/2013/03/green-tea-extract-egcg-benefits-it-has_24.html" target="_blank">my big post on EGCG</a> a few months back? The one that showed EGCG can actually create Mitochondrial Biogenesis in individuals with Down syndrome? Yeah, that was huge news!<br />
<br />
<a href="http://www.sciencedirect.com/science/article/pii/S092544391200302X" target="_blank">Epigallocatechin-3-gallate prevents oxidative phosphorylation deficit and promotes mitochondrial biogenesis in human cells from subjects with Down's syndrome</a><br />
<br />
The abstract of that study is below:<br />
<br />
<div id="sp0005">
A critical role for mitochondrial dysfunction has been
proposed in the pathogenesis of Down's syndrome (DS), a human
multifactorial disorder caused by trisomy of chromosome 21, associated
with mental retardation and early neurodegeneration. Previous studies
from our group demonstrated in DS cells a decreased capacity of the
mitochondrial ATP production system and overproduction of reactive
oxygen species (ROS) in mitochondria. In this study we have tested the
potential of epigallocatechin-3-gallate (EGCG) – a natural polyphenol
component of green tea – to counteract the mitochondrial energy deficit
found in DS cells. We found that EGCG, incubated with cultured
lymphoblasts and fibroblasts from DS subjects, rescued mitochondrial
complex I and ATP synthase catalytic activities, restored oxidative
phosphorylation efficiency and counteracted oxidative stress. These
effects were associated with EGCG-induced promotion of PKA activity,
related to increased cellular levels of cAMP and PKA-dependent
phosphorylation of the NDUFS4 subunit of complex I. In addition, EGCG
strongly promoted mitochondrial biogenesis in DS cells, as associated
with increase in Sirt1-dependent PGC-1α deacetylation, NRF-1 and T-FAM
protein levels and mitochondrial DNA content.</div>
<div id="sp0005">
<br /></div>
<div id="sp0010">
In
conclusion, this study shows that EGCG is a promoting effector of
oxidative phosphorylation and mitochondrial biogenesis in DS cells,
acting through modulation of the cAMP/PKA- and sirtuin-dependent
pathways. EGCG treatment promises thus to be a therapeutic approach to
counteract mitochondrial energy deficit and oxidative stress in DS.</div>
<br />
Well, we have the full text in PDF format of that study, which is always a helpful resource to have. You can <a href="http://www.gotdownsyndrome.net/egcg-mitochondrial-biogenesis.pdf" target="_blank">download the PDF here</a>.<br />
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<a href="http://2.bp.blogspot.com/-p8xewA4JiaA/UcDQmgKm0uI/AAAAAAAAD6M/SpGB7JELn2E/s1600/IMG_4110.JPG" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="422" src="http://2.bp.blogspot.com/-p8xewA4JiaA/UcDQmgKm0uI/AAAAAAAAD6M/SpGB7JELn2E/s640/IMG_4110.JPG" width="640" /></a></div>
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<a href="http://2.bp.blogspot.com/-FanvwzKjRyw/UcDQu5lU18I/AAAAAAAAD6U/LL6KC9RQmCA/s1600/IMG_4135.JPG" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="480" src="http://2.bp.blogspot.com/-FanvwzKjRyw/UcDQu5lU18I/AAAAAAAAD6U/LL6KC9RQmCA/s640/IMG_4135.JPG" width="640" /></a></div>
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com1tag:blogger.com,1999:blog-3211143012204688541.post-5217561805867738722013-06-18T14:17:00.000-07:002013-06-18T14:17:10.374-07:00New Randomized Double-Blind Trial in the Works With EGCGRichard over at the DSTNI listserv, shared the following:<br />
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<![endif]--><span style="font-family: "Times New Roman","serif"; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin;">I just found out that
a second and larger clinical trial has started in Spain. The dosage remains the
same as in the pilot study, but this time the duration was set for 12 instead
of only 3 months, and there are 100 participants ages 14 to 29yrs. First results are expected for December 2013.</span></blockquote>
The name of the clinical trial is:
<i>Normalization of dyrk1A and
APP Function as an Approach to Improve Cognitive Performance and
Decelerate AD Progression in DS Subjects: Epigallocatechin Gallate as
Therapeutic Tool.</i><br />
<br />
This is the brief summary and the goal of the study:<br />
<br />
<blockquote class="tr_bq">
Epigallocatechin-3-gallate (EGCG), the major catechin in green tea, is
postulated to modulate dual specificity
tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) and amyloid beta
precursor protein (APP) gene overexpression in the brains of Down
syndrome mouse models. The clinical study is aimed at demonstrating that
normalization of Dyrk1A and APP functions is a therapeutic approach to
improve cognitive performance and decelerate AD (Alzheimer's disease)
like progression.</blockquote>
You can see the full clinical trial page at <a href="http://clinicaltrials.gov/ct2/show/record/NCT01699711">http://clinicaltrials.gov/ct2/show/record/NCT01699711</a>. <br />
<br />
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<br />
<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com0tag:blogger.com,1999:blog-3211143012204688541.post-52692196509246311832013-06-17T12:05:00.002-07:002013-06-17T12:05:54.582-07:00Betty Crocker Gluten Free Baking Mixes & Gluten-Free Dixie Spice Cake with Caramel FrostingMyBlogSpark provided us with a baking gift set, complete with a pan, rolling pin, a couple rubber utensils and a timer to be able to do a blog post on Betty Crocker's Gluten Free Baking Mixes. <br />
<br />
<a href="http://4.bp.blogspot.com/-o-X-Q7vMzbo/Ub8xlUGO5uI/AAAAAAAAD4c/L6PsHFDWPEQ/s1600/IMG_3883.JPG" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="532" src="http://4.bp.blogspot.com/-o-X-Q7vMzbo/Ub8xlUGO5uI/AAAAAAAAD4c/L6PsHFDWPEQ/s640/IMG_3883.JPG" width="640" /></a><br />
<br />
So, we went out and picked up a Betty Crocker Gluten Free Pancake and Baking Mix. This mix is your all-in-one gluten free flour combination and it works great. We found a regular cake recipe and changed it up some to fit what we needed and so that it would be gluten-free.<br />
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Delicious, classic — and Gluten Free!<br />
<br />Now, Gluten Free baking gets even easier (and tastier!) with two all-new additions to the delicious line of Betty Crocker Gluten Free baking products — introducing Gluten Free Sugar Cookie mix and All-Purpose Gluten Free Rice Flour Blend.<br />
<br />Smart moms already trust the great taste of Betty Crocker Gluten Free Brownie, Cookie and Cake mixes that the whole family can enjoy, and now beginner-to-expert bakers can use mixes or create from scratch delicious recipes year-round!<br />
<br />So why are Gluten Free moms choosing Betty Crocker?<br /><br />
• Taste — Our consumers rave about the great taste of our Gluten Free products. Check out some of the great comments <a href="http://www.bettycrocker.com/products/gluten-free-baking-mixes/products/gluten-free-chocolate-brownie-mix" target="_blank">here</a>.<br />• Shareable — You can make one dessert for the whole family.<br />• Normalcy — You can feel "normal again" baking for your family just like before you went gluten free.<br />
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The cake we chose to make was a spice cake. Here's the recipe below. Enjoy! (Remember you can always click the "Printer Friendly" button at the bottom of each blog post to print the recipe out)<br />
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<b>Gluten-Free Dixie Spice Cake with Caramel Frosting</b></h2>
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<a href="http://1.bp.blogspot.com/-_EVm9i3HHWs/Ub8zIpPUUCI/AAAAAAAAD58/-7Ny3sYSl_I/s1600/IMG_3909.JPG" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="640" src="http://1.bp.blogspot.com/-_EVm9i3HHWs/Ub8zIpPUUCI/AAAAAAAAD58/-7Ny3sYSl_I/s640/IMG_3909.JPG" width="536" /></a></div>
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<b>Ingredients:</b><br />
<br />
<b>Cake:</b><br />
2 1/4 Cups Betty Crocker Gluten Free Baking Mix<br />
1 1/4 cups firmly packed brown sugar<br />
1/2 cup sugar<br />
1/2 teaspoon allspice<br />
1/2 teaspoon cinnamon<br />
1/8 teaspoon clove powder<br />
1 cup milk<br />
2/3 cup coconut oil*<br />
1 teaspoon vanilla<br />
3 eggs<br />
<br />
<b>Frosting:</b><br />
1/2 cup coconut oil or butter<br />
1 cup firmly packed brown sugar<br />
1/4 cup milk<br />
3 cups powdered sugar<br />
1/2 teaspoon vanilla <br />
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<b>Directions:</b><br />
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1. Preheat oven to 350 degrees. </div>
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2. Combine all the cake ingredients.</div>
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Stir until well moistened and mixed together.<br />
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3. Grease your pan(s). Because this recipe makes a 13"x9" cake, we used two 8"x8" pans. <br />
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4. Fill the pan with the batter - about 1/2 full.<br />
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5. Bake in 350 degree oven for 30-45 minutes or until toothpick inserted comes out clean and the edges are a light golden brown.<br />
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6. For the frosting: In medium saucepan, melt coconut oil or butter. Add brown sugar, cook over low heat for 2 minutes, stirring constantly. Add milk, continue cooking until mixture comes to a rolling boil. Remove from heat. Gradually add powdered sugar and vanilla, mix well. If needed, add a few drops of milk for desired spreading consistency. Spread over cooled cake.<br />
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Because I was baking with a friend of mine who is 6 years old, we added some food coloring to the frosting to give it a purple hue. We also topped our cake with Toffee Pieces.<br />
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Be sure to visit the <a href="http://www.bettycrocker.com/glutenfree" target="_blank">Betty Crocker website</a>, "like" <a href="https://www.facebook.com/bettycrocker" target="_blank">Betty Crocker on Facebook</a>, and follow <a href="https://twitter.com/bettycrocker" target="_blank">Betty Crocker on Twitter</a>.<!--[if gte mso 9]><xml>
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A couple parents of kids with DS that I know shared this recent study on <a href="http://gotdownsyndrome.blogspot.com/2013/03/green-tea-extract-egcg-benefits-it-has_24.html" target="_blank">EGCG</a>, so I thought I'd share it up here.<br />
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The final conclusion of this: EGCG seems to help improve bone mineral density and skeletal problems in individuals with Down syndrome. Pretty cool.<br />
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<a href="http://research.iupui.edu/events/researchday2013/documents/a103.pdf" target="_blank">Evaluation of the Effects of Green Tea Extracts on Bone Homeostasis in the Ts65Dn Down Syndrome Mouse Model</a><br /><br />Irushi S. Abeysekera1, Jared R. Thomas2, Joshua D. Blazek1, and Randall J. Roper1 1Department of Biology, Indiana-University-Purdue-University, Indianapolis; 2 Ivy Tech Community<br />College- Central Indiana<br />
<br />Down Syndrome (DS) is a genetic disorder that affects ~1 in 700 live births, caused by trisomy of human chromosome 21 (Hsa21), and results in cognitive impairment, craniofacial abnormalities, low muscle tone, and skeletal deficiencies. To study these phenotypes, we utilized the Ts65Dn mouse model, which contains three copies of approximately half the orthologous found on Hsa21 and exhibits similar phenotypes as found in humans with DS. Individuals with DS and Ts65Dn mice have deficits in bone mineral density (BMD), architecture, and bone strength. Over-expression of DYRK1A, a serine-threonine kinase encoded on Hsa21, has been linked to deficiencies in DS bone homeostasis. Epigallocatechin-3- gallate (EGCG), an aromatic polyphenol found in high concentrations in green tea, is a known inhibitor of Dyrk1a activity. Normalization of Dyrk1a activity by EGCG may have the potential to regulate bone homeostasis and increase BMD and bone strength in individuals with DS. In this study, we hypothesized that EGCG obtained from different sources would have differential effects in correcting bone deficits associated with DS. To test our hypothesis, we performed on EGCG and related compounds from different sources. The LC-MS analysis determined the amount of EGCG and the degradation in our stock solution. Next, we treated three-week- old Ts65Dn and control male mice with EGCG for three weeks. At six weeks of age, mice were sacrificed. DXA and micro CT analysis were performed on the femurs and skulls of the mice to assess trabecular and cortical bone structure and BMD. Our results indicate the ability of EGCG to ameliorate skeletal deficiencies and compared pure EGCG with EGCG purchased from commercial vendors in correcting skeletal deficits associated with DS.<br />
<br />Mentors: Randall J. Roper, Department of Biology, Indiana-University-Purdue-University, Indianapolis<br /><br />
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The evening before the storms hit - the clouds were large and beautiful.<br />
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The morning after the storm we decided to head outside and take a look at all the water. The kids had a fun time exploring the creek that runs through our
property when it rains like this. I'll just share a few pictures from
the last few days.<br />
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<a href="http://3.bp.blogspot.com/-fn7aRfNjhLI/UXcWtuSNzNI/AAAAAAAADno/ZuyUznSJflg/s1600/IMG_1028.JPG" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="640" src="http://3.bp.blogspot.com/-fn7aRfNjhLI/UXcWtuSNzNI/AAAAAAAADno/ZuyUznSJflg/s640/IMG_1028.JPG" width="480" /></a></div>
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This is a dam in our property that has been in place for a few years. The power of the storms and water broke it right in half like it was nothing.<br />
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Ever seen a tree struck by lightning? Well, here ya go. Sometimes the trees will be split in half, but this one held up so far.<br />
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<a href="http://4.bp.blogspot.com/-ejuN8oozuFM/UXcYBtbNXqI/AAAAAAAADoY/bnLPrLNYhK0/s1600/IMG_1140.JPG" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="480" src="http://4.bp.blogspot.com/-ejuN8oozuFM/UXcYBtbNXqI/AAAAAAAADoY/bnLPrLNYhK0/s640/IMG_1140.JPG" width="640" /></a><br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com1tag:blogger.com,1999:blog-3211143012204688541.post-48633884322150336632013-04-10T12:08:00.003-07:002013-04-10T12:08:35.062-07:00New Speech Device being tested in EuropeThere's a new speech device being tested in Europe with children who have Down syndrome. It looks very cool and promising. It would make sense that this would work, because children with DS respond very well to <a href="http://gotdownsyndrome.blogspot.com/search/label/PROMPT" target="_blank">PROMPT therapy</a>. <br />
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<a href="http://3.bp.blogspot.com/-YGcg3c9idGE/UWW4Y4z9aMI/AAAAAAAADnA/j9FbtpjcfH4/s1600/1276734123.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="http://3.bp.blogspot.com/-YGcg3c9idGE/UWW4Y4z9aMI/AAAAAAAADnA/j9FbtpjcfH4/s1600/1276734123.jpg" /></a></div>
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<a href="http://www.scotsman.com/news/scottish-news/top-stories/speech-device-helps-down-s-pupils-learn-speech-1-2884509" target="_blank">Speech Device Helps Children with Down Syndrome</a><br />
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A REVOLUTIONARY speech therapy technology aimed at helping children with Down’s syndrome is being rolled out to the Capital’s classrooms.<br /><br />Experts at Queen Margaret University revealed teachers and learning assistants at schools across Edinburgh and the Lothians were using hi-tech techniques based on electropalatography (EPG) – where children learn to pronounce sounds with the help of visual patterns generated by a mouth palate containing dozens of electrodes.<br /><br />QMU researchers have been developing EPG for 20 years but revealed they were now taking it into classrooms, with 20 pupils who have Down’s benefitting through 15-minute bursts of therapy.<br /><br />They said the new approach marked a radical departure from conventional aural feedback methods, where subjects are asked to listen to sounds and repeat them, which are often less effective as children with Down’s usually respond better to visual stimuli.<br /><br />Joyce Fegan, a teaching assistant at Prospect Bank Primary School, who is using EPG with 11-year-old Grace Hampson, said: “It has made a huge difference. We’ve noticed her speech has slowed down and it’s been a lot easier for her when pronouncing sounds and words.”<br /><br />Researchers explained that EPG uses a palate made for each child which contains 62 electrodes monitoring exactly where the tongue makes contact with the mouth during speech.<br /><br />The signals are then fed into a device that converts them into a simple pattern on a computer screen showing tongue-to-mouth contact.<br /><br />The therapist – also hooked up to the device through a palate – is then able to show the correct pattern to the child for each sound, enabling them to learn the pronunciation.<br /><br />“It’s been very positive,” said Ms Fegan, who has been using EPG with Grace every day over the past three months.<br /><br />“Grace knows exactly how to produce sounds because she’s seeing them on a screen and she really enjoys using the palate.<br /><br />Ms Fegan revealed that another P7 pupil, Niamh Savage, was also benefitting from the trial, with nine-year-old Rimni Rudden Davey also set to get on board.<br /><br />Results from classroom trials will be analysed by experts at QMU, who said EPG should “significantly improve” speech production among primary school pupils with Down’s.<br /><br />Dr Sara Wood, QMU speech and language therapist, said: “By targeting younger children, we are hoping to correct speech problems before they become entrenched. We hope this work will help pave the way to a much brighter future for people with Down’s.”<br /><br />‘The whole experience has given her more confidence’<br /><br />• GRACE Hampson, 11, a primary seven pupil at Prospect Bank, has been taking part in EPG sessions for three months as part of the QMU trial.<br /><br />School staff and family members said they have already noticed an improvement in her speech.<br /><br />Mum Rosemary, 49, said: “I think EPG has made her think about the sounds she’s producing much more.<br /><br />“The screen makes it easier to imagine the sounds and picture them, and I think the whole experience has just given her more confidence.”<br /><br />
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<a href="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" src="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" /></a><a href="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><br /></a><a href="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><br /></a><a href="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><br /></a><a href="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><br /></a><a href="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><br /></a><a href="http://1.bp.blogspot.com/-22wsfdVDxeQ/UVnZB4JSZUI/AAAAAAAADmw/jAzAwyO2HP4/s1600/DSteeneverest.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><br /></a><br />
Read more at: <a href="http://www.foxnews.com/health/2013/04/01/teen-with-down-syndrome-becomes-first-ever-to-reach-mt-everest-base-camp/" target="_blank">http://www.foxnews.com/health/2013/04/01/teen-with-down-syndrome-becomes-first-ever-to-reach-mt-everest-base-camp/</a><br />
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<iframe allowfullscreen="" frameborder="0" height="360" src="http://www.youtube.com/embed/leM7nXAQ4wY" width="480"></iframe>
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Richard on the DSTNI list just pointed out a dosage mistake in my post, due to VitaCost's GreenSelect misinformation on their dosage. I updated the original post about EGCG to reflect the following dosage information.<br />
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Indena's GreenSelect Green Tea Extract Phytosome is used in <a href="http://www.vitacost.com/vitacost-greenselect-green-tea-extract-phytosome" target="_blank">VitaCost GreenSelect</a>. Another example is <a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">Swanson's Ultra GreenSelect Green Te</a><a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">a Phytosome</a>.<br />
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We will be using the <a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">Swanson's Ultra GreenSelect Green Te</a><a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">a Phytosome</a>, as is mentioned above. The cost is $14.99 for 60 capsules. Each capsule contains the following:<br />
<blockquote class="tr_bq">
<blockquote class="tr_bq">
GreenSelect® Phytosome™</blockquote>
<blockquote class="tr_bq">
(green tea extract Camellia sinensis leaves/ Glycine max soybeans) -600 mg<span class="Apple-tab-span" style="white-space: pre;"> </span></blockquote>
<blockquote class="tr_bq">
Standardized to:<span class="Apple-tab-span" style="white-space: pre;"> </span> <span class="Apple-tab-span" style="white-space: pre;"> </span> </blockquote>
<blockquote class="tr_bq">
19-25% polyphenols - 114-150 mg<span class="Apple-tab-span" style="white-space: pre;"> </span> </blockquote>
<blockquote class="tr_bq">
13% epigallocatechin 3-0 gallate (EGCG) - 78 mg<span class="Apple-tab-span" style="white-space: pre;"> </span></blockquote>
</blockquote>
The dosage can be a little tricky with the GreenSelect Green Tea. VitaCost's GreenSelect Extract which is mentioned above contains the following per 1 capsule:<br />
<blockquote class="tr_bq">
“Green Tea Extract (Camellia sinensis leaves/Glycine max soybeans) [standardized to 60% polyphenols 180mg, 40% epigallocatechin 3-0 gallate (EGCG) 120 mg]”</blockquote>
Originally we were going to use the VitaCost brand. But, Richard on the DSTNI list pointed out that VitaCost doesn't calculate the dosage accurately. Yes, it can be a little confusing. But, they miss the dosage part of the fatty acids in the mix. So, the dosage above for Swanson's GreenSelect is accurate and not as confusing. The VitaCost dosage is not accurate. <br />
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For a child that is O’s weight – 50 lbs – that would calculate out to 180mg/day of EGCG. With the Swanson GreenSelect EGCG, that would mean approximately 2 & 1/2 capsules. With the VitaCost brand, the dosage is almost doubled.<br />
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Hope this helps clear any confusion there might be!<br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com0tag:blogger.com,1999:blog-3211143012204688541.post-67878560065729110012013-03-26T11:00:00.000-07:002013-03-26T11:00:01.283-07:00New Decreased Protein Found in Down Syndrome - Treatment is PromisingThere's some <a href="http://www.utsandiego.com/news/2013/mar/24/down-syndrome-sanford-burnham-trisomy-21/" target="_blank">new research out by scientists at the Sanford-Burnham Medical Research Institute</a>.<br />
<br />
The reduced protein is SNX27. The article states,<br />
<blockquote class="tr_bq">
<i>Near-normal brain function can be restored in mouse models by increasing levels of this protein, called SNX27</i></blockquote>
One of the researchers says,<br />
<blockquote class="tr_bq">
<i>"It's hard to say in humans (how much brain function can be repaired), but in those particular mice, the mouse model of Down syndrome, we were able to pretty much rescue all the pathology," according to cognitive tests given to the rodents, Xu said. </i></blockquote>
The research showed the following,<br />
<blockquote class="tr_bq">
<i>Lack of SNX27 decreases the number of certain molecules on the surface of mouse neurons, the study found. These molecules, called glutamate receptors, are important for learning. Researchers studied brain samples collected after death from people with Down syndrome, and found lower levels of SNX27 than in control samples of those without the condition. In addition, neurons have abnormal dendrites, the long filaments that help transmit signals from cell to cell.</i> </blockquote>
<blockquote class="tr_bq">
<i>If the mouse model is a good guide, such therapy should work in children almost up until puberty. </i></blockquote>
The mice were treated using gene therapy.<br />
<blockquote class="tr_bq">
<i>The mice were treated with gene therapy to deliver a human version of the gene that makes the SNX27 protein. A common virus was given the gene, then delivered to the mouse brains. Such an approach is now considered too risky for human use, Xu said, so researchers are looking for a drug that produces the same effect.</i></blockquote>
The beginning of the article linked above states,<br />
<blockquote class="tr_bq">
<i>Moreover, the study points the way to a possible therapy to improve brain function in children with the genetic abnormality. No such therapy now exists.</i></blockquote>
I would have to disagree with this. There is nutritional therapy that exists right now which improves brain function in children with Down syndrome. Namely <a href="http://gotdownsyndrome.blogspot.com/search/label/Longvida" target="_blank">Longvida Curcumin</a>, <a href="http://gotdownsyndrome.blogspot.com/search/label/ginkgo%20biloba" target="_blank">Ginkgo Biloba</a> and <a href="http://gotdownsyndrome.blogspot.com/search/label/EGCG" target="_blank">EGCG</a>. Some families even use Prozac with their children with Down syndrome to improve brain function.<br />
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It would be nice if Down syndrome was easily "solved" with just one therapy. But, it's not. It's so complex, due to the triplicated chromosome, that so many different genes are "turned on," "turned off," underexpressed, overexpressed and so on. While I am excited for every new research find and every new possible therapy to help individuals with DS, it's a complicated puzzle. Ultimately, at this point, we have to use as many researched aspects of treatment as are available to us (which are safe), to address the concerns in Down syndrome. It's an every changing journey though and something that has to be looked at <a href="http://gotdownsyndrome.blogspot.com/2010/10/31-for-21-its-marathon.html" target="_blank">as a marathon, not a sprint</a>.<br />
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com3tag:blogger.com,1999:blog-3211143012204688541.post-48231566415448835012013-03-24T16:45:00.000-07:002015-08-20T09:09:01.687-07:00Green Tea Extract: EGCG & The Benefits It Has for Down Syndrome<br />
EGCG, which stands for Epigallocatechin-3-gallate, is an extract from Green Tea. EGCG is the major polyphenolic compound found in green tea. Green Tea has been known to have lots of health benefits for awhile, but about two years ago it came to the attention of people in the Down syndrome world.<br />
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I’ve been watching it over the last couple years. But, when I saw some new research come out about EGCG a couple weeks ago, I decided it was time to jump on the bandwagon and start supplementing with EGCG. As usual though, I needed to have all my ducks in a row, so to speak, have all the research and facts lined up, so I can definitively know why we are using EGCG. Of course, this helps others as well, which is also why I’ve typed it all up.<br />
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Original research with EGCG that sparked the attention of those in the DS world was research for Alzheimer’s disease. Let’s look at some of this initial research to lay the groundwork.<br />
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EGCG prevents certain apoptotic (pre-programmed) cell death through inhibiting the elevation of Abeta (a protein involved with Alzheimer’s and also involved with DS) via inhibition of beta and gamma-secretases. This, therefore, reduces neuroinflammation that’s associated with the progression of Alzheimer’s disease (1). We also know that neuroinflammation is involved with DS.<br />
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Alzheimer’s Disease & Down syndrome have the increased amyloid-beta protein (Abeta), which causes plaques & tangles in the brain. The processes & increases which Abeta cause are reduced by EGCG. EGCG improves memory function, as well as reducing harmful levels of increased Abeta and its associated functions (2).<br />
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So, we have EGCG which prevents cell death, reduces the elevated levels of amyloid beta, reduces Beta Secretase expression, reduces APP (Amyloid Precursor Protein – overexpressed in DS) and reduces neuroinflammation. All of this will help improve neurogenesis. That’s all great stuff, but there’s still more amazing benefits to EGCG – specifically for Down syndrome.<br />
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There’s an annoying little gene that is over expressed in Down syndrome called – get ready for this long word - <a href="http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYRK1A" target="_blank">dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, also known as DYRK1A</a>. We’ll use the abbreviated word, since it’s a lot easier to say and remember! DYRK1A causes cognitive & learning impairments in DS and is highly involved in the neurodegenerative process in the Down syndrome brain (3-6). It also plays a role in the Alzheimer-like pathway that is seen in Down syndrome (3).<br />
The good thing about DYRK1A is research has shown that it can be inhibited. If DYRK1A is inhibited, then the harmful effects of the gene won’t be able to function. Remember, the over expressed aspect of this gene is what is the problem – not just the gene in and of itself.<br />
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EGCG is a safe DYRK1A inhibitor and there has been very successful research done in individuals with Down syndrome. The Jerome Lejeune Foundation has a program designed to research what will inhibit this gene. <a href="http://lejeuneusa.org/dyrk1a" target="_blank">Professor Mara Dierssen, from the Jerome Lejeune Foundation</a>, has had a very successful clinical trial (10) with individuals with Down syndrome using EGCG. Professor Dierssen is also now recruiting for a second clinical trial (11).<br />
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EGCG is also a GABA antagonist (7-9). An antagonist is a substance that acts within the body to reduce the physiological activity of another substance. Gamma-aminobutyric acid (GABA) is an inhibitory neurotransmitter.<br />
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Now that we have the definitions down, let’s get on to the problem with GABA. GABA is a good thing when it is not in excess, because it creates the perfect balance between neuronal excitation and inhibition to allow for efficient learning. But, there appears to be too much GABA-related inhibition in Down syndrome and therefore it “turns off” too many neurons in the brain and makes it more difficult to process information.<br />
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So, EGCG being a GABA antagonist, namely blocking the GABA(A) receptor (recombinant alpha1beta2gamma2L GABA(A) receptor), is a very beneficial thing for individuals with DS. Having an antagonist which can reduce GABA, will greatly help the brain and learning in Down syndrome.<br />
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Mitochondrial dysfunction has been well established in Down syndrome. EGCG prevents oxidative deficit in the mitochondria, reduces oxidative stress and actually promotes mitochondrial biogenesis in Down syndrome (12). This is amazing, because there has never before, to my knowledge, been a way to efficiently combat the mitochondrial dysfunction in Down syndrome.<br />
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EGCG is also an iron-chelator, which can be beneficial for individuals with DS, due to the oxidation issues that come with high levels of iron. Now, if an individual with DS already has low levels of iron, this would be something to keep in mind and monitor the iron levels while supplementing with EGCG.<br />
So, to recap, EGCG helps improve memory, reduce the learning impairment seen in individuals with DS, reduce oxidative stress, is a potent antioxidant, promotes mitochondrial biogenesis, is a GABA antagonist, is an iron-chelator, inhibit DYRK1A, prevents cell death, reduces neuroinflammation, reduces Beta Secretase & APP expression, and causes a reduction in Abeta and the problems it causes.<br />
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With all this, one may ask, is there anything negative about EGCG? There is one thing to keep an eye on, but I wouldn’t necessarily call it a “negative.”<br />
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EGCG inhibits or reduces DHFR, which is an enzyme involved in the methylation and folate cycle. So, ultimately, it may reduce folate. We already know that folate is reduced in Down syndrome and many people use additional supplements to increase folate in Down syndrome. As long as a sufficient amount of folate or folinic acid is supplemented, I would not be too concerned about this aspect of EGCG. There are some other questions regarding DHFR and some genes that it is involved in regulating – whether it is good to stop that or not.<br />
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But, for now, look at all the benefits for EGCG above and think about all the problems which DYRK1A (and others) cause. The answer is simple for me, at the moment: Supplement with additional folate/folinic acid, or supplements to support the methylation cycle, as you are using EGCG.<br />
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Now, the question comes down to, what is the recommended dosage and what are the best brands.<br />
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The recommended dosage is 9mg/kg (kg=2.5lbs) of EGCG. This is the dosage that the clinical trials in Down syndrome are using. This is also the dosage that many parents are using with their children.<br />
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One important note on the dosage: that is NOT 9mg/kg of Green Tea. This is important to note, as most products will be Green Tea that you are giving. You will have to calculate the amount of EGCG in the product to give the correct amount. You will be giving more Green Tea, but the recommended dosage of 9mg/kg.<br />
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Because EGCG is still in the early stages of use and development, it can be a little tricky to get a brand that is bioavailable. A good brand of just EGCG is <a href="http://www.teavigoinfo.com/" target="_blank">Teavigo</a>. The problem with Teavigo is that it is not in a liposomal encapsulation (a fatty acid), to make it bioavailable enough to cross the blood-brain-barrier (which is where it is needed).<br />
<br />
<a href="http://www.indena.com/pdf/sellsheet/greenselect_phytosome_ss_int.pdf" target="_blank">GreenSelect Phytosomes</a> made by a company named <a href="http://www.indena.com/pdf/sellsheet/greenselect_phytosome_ss_int.pdf" target="_blank">Indena</a>, has been found by some to be a good bioavailable form of EGCG. This has the phospholipid bound to it. There are several companies which use GreenSelect as their base. One example is <a href="http://www.vitacost.com/vitacost-greenselect-green-tea-extract-phytosome" target="_blank">VitaCost GreenSelect</a>. Another example is <a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">Swanson's Ultra GreenSelect Green Te</a><a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">a Phytosome</a>.<br />
<br />
Another liposomal brand which some families use with their children is Enzymatic Therapy Green Tea Elite with EGCG. You can view it <a href="http://www.enzymatictherapy.com/Products/Aging-Gracefully/Antioxidants/09886-Green-Tea-Elite-with-EGCG.aspx" target="_blank">here</a> and <a href="http://www.iherb.com/Enzymatic-Therapy-Green-Tea-Elite-with-EGCG-60-Veggie-Caps/2149?gclid=CMnwxo6v4bUCFU1yQgod8EcAzg" target="_blank">here</a>.<br />
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We will be using the <a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">Swanson's Ultra GreenSelect Green Te</a><a href="http://www.swansonvitamins.com/swanson-ultra-greenselect-green-tea-phytosome-600-mg-60-caps" target="_blank">a Phytosome</a>, as is mentioned above. The cost is $14.99 for 60 capsules. Each capsule contains the following:<br />
<blockquote class="tr_bq">
<blockquote class="tr_bq">
GreenSelect® Phytosome™</blockquote>
<blockquote class="tr_bq">
(green tea extract Camellia sinensis leaves/ Glycine max soybeans) -600 mg<span class="Apple-tab-span" style="white-space: pre;"> </span></blockquote>
<blockquote class="tr_bq">
Standardized to:<span class="Apple-tab-span" style="white-space: pre;"> </span> <span class="Apple-tab-span" style="white-space: pre;"> </span> </blockquote>
<blockquote class="tr_bq">
19-25% polyphenols - 114-150 mg<span class="Apple-tab-span" style="white-space: pre;"> </span> </blockquote>
<blockquote class="tr_bq">
13% epigallocatechin 3-0 gallate (EGCG) - 78 mg<span class="Apple-tab-span" style="white-space: pre;"> </span></blockquote>
</blockquote>
The dosage can be a little tricky with the GreenSelect Green Tea. VitaCost's GreenSelect Extract which is mentioned above contains the following per 1 capsule:<br />
<blockquote class="tr_bq">
“Green Tea Extract (Camellia sinensis leaves/Glycine max soybeans) [standardized to 60% polyphenols 180mg, 40% epigallocatechin 3-0 gallate (EGCG) 120 mg]”</blockquote>
Originally we were going to use the VitaCost brand. But, Richard on the DSTNI list pointed out that VitaCost doesn't calculate the dosage accurately. Yes, it can be a little confusing. But, they miss the dosage part of the fatty acids in the mix. So, the dosage above for Swanson's GreenSelect is accurate and not as confusing. The VitaCost dosage is not accurate. <br />
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For a child that is O’s weight – 50 lbs – that would calculate out to 180mg/day of EGCG. With the Swanson GreenSelect EGCG, that would mean approximately 2 & 1/2 capsules. With the VitaCost brand, the dosage is almost doubled.<br />
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So, there’s a LONG explanation of why EGCG is good and everything that goes with it. I will keep notes of how O does on the EGCG and any changes we see.<br />
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*Note (Update 8/20/15): I realized that it is not mentioned about giving the child the 9mg/kg dosage of EGCG twice a day. That IS the recommended thing to do. It is best to give the 9mg/kg dosage TWICE a day, as then it is in child's body at all times. We do this with O. Some have had problems giving the dosage at night, because it has kept their child awake. Others have not had this problem. We have not experienced this problem at all. <br />
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<b>References:</b><br />
1.<span class="Apple-tab-span" style="white-space: pre;"> </span>Brain Res. 2009 Jan 23;1250:164-74 (-)-Epigallocatechin-3-gallate prevents lipopolysaccharide-induced elevation of beta-amyloid generation and memory deficiency. Lee YK, Yuk DY, Lee JW, Lee SY, Ha TY, Oh KW, Yun YP, Hong JT.<br />
2.<span class="Apple-tab-span" style="white-space: pre;"> </span>Nutr. 2009 Oct;139(10):1987-93. Green tea (-)-epigallocatechin-3-gallate inhibits beta-amyloid-induced cognitive dysfunction through modification of secretase activity via inhibition of ERK and NF-kappaB pathways in mice. Lee JW, Lee YK, Ban JO, Ha TY, Yun YP, Han SB, Oh KW, Hong JT.<br />
3.<span class="Apple-tab-span" style="white-space: pre;"> </span>Ageing in Down Syndrome: DYRK1A As a Candidate Gene for Cognitive Decline<br />
<a href="http://www.sciencedirect.com/science/article/pii/S2171974808700394">http://www.sciencedirect.com/science/article/pii/S2171974808700394</a><br />
4.<span class="Apple-tab-span" style="white-space: pre;"> </span>Dyrk1A Overexpression Inhibits Proliferation and Induces Premature Neuronal Differentiation of Neural Progenitor Cells. <a href="http://www.jneurosci.org/content/30/11/4004.full">http://www.jneurosci.org/content/30/11/4004.full</a><br />
5.<span class="Apple-tab-span" style="white-space: pre;"> </span>DYRK1A in normal brain development and Down syndrome. <a href="http://www.nature.com/nrn/journal/v13/n12/fig_tab/nrn3314_F2.html" target="_blank">http://www.nature.com/nrn/journal/v13/n12/fig_tab/nrn3314_F2.html </a><br />
6.<span class="Apple-tab-span" style="white-space: pre;"> </span>Green Tea Polyphenols Rescue of Brain Defects Induced by Overexpression of DYRK1A <a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0004606">http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0004606</a><br />
7.<span class="Apple-tab-span" style="white-space: pre;"> </span><a href="http://sydney.edu.au/medicine/pharmacology/adrien-albert/images/pdfs/RefsPDFs/367.pdf" target="_blank">http://sydney.edu.au/medicine/pharmacology/adrien-albert/images/pdfs/RefsPDFs/367.pdf </a><br />
8.<span class="Apple-tab-span" style="white-space: pre;"> </span>Reducing GABAA α5 Receptor-Mediated Inhibition Rescues Functional and Neuromorphological Deficits in a Mouse Model of Down Syndrome. <a href="http://www.jneurosci.org/content/33/9/3953.full">http://www.jneurosci.org/content/33/9/3953.full</a><br />
9.<span class="Apple-tab-span" style="white-space: pre;"> </span>Implications for treatment: GABAA receptors in aging, Down syndrome and Alzheimer's disease. <a href="http://www.ncbi.nlm.nih.gov/pubmed/21388375">http://www.ncbi.nlm.nih.gov/pubmed/21388375</a><br />
10.<span class="Apple-tab-span" style="white-space: pre;"> </span><a href="http://clinicaltrials.gov/ct2/show/NCT01394796?term=EGCG+and+down+syndrome&rank=1">http://clinicaltrials.gov/ct2/show/NCT01394796?term=EGCG+and+down+syndrome&rank=1</a><br />
11.<span class="Apple-tab-span" style="white-space: pre;"> </span><a href="http://clinicaltrials.gov/ct2/show/NCT01699711?term=EGCG+and+down+syndrome&rank=2">http://clinicaltrials.gov/ct2/show/NCT01699711?term=EGCG+and+down+syndrome&rank=2</a><br />
12.<span class="Apple-tab-span" style="white-space: pre;"> </span>Epigallocatechin-3-gallate prevents oxidative phosphorylation deficit and promotes mitochondrial biogenesis in human cells from subjects with Down's syndrome <a href="http://www.sciencedirect.com/science/article/pii/S092544391200302X">http://www.sciencedirect.com/science/article/pii/S092544391200302X</a><br />
13. A few helpful websites:<br />
<a href="https://sites.google.com/site/superdownsyndrome/supplements/green-tea-extract">https://sites.google.com/site/superdownsyndrome/supplements/green-tea-extract</a><br />
<a href="http://changingmindsaboutdownsyndrome.blogspot.com/">http://changingmindsaboutdownsyndrome.blogspot.com</a> (search EGCG)<br />
<a href="http://dsdaytoday.blogspot.com/2011/03/egcg-green-tea-extract.html">http://dsdaytoday.blogspot.com/2011/03/egcg-green-tea-extract.html</a><br />
<a href="http://dstoner.net/Math_Science/Downs.html">http://dstoner.net/Math_Science/Downs.html</a><br />
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Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com22tag:blogger.com,1999:blog-3211143012204688541.post-14202826457881843672013-03-18T13:54:00.003-07:002013-03-18T13:54:48.888-07:00Using the term "Mentally Retarded"<br />
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Last week I received an email from a new mother of a baby with DS who recently came across my blog. She was <b>furious</b> that the term "mentally retarded" had been used in this blog. She even went so far as to say, "...you use the term mentally RETARDED!!!??? Really there's no other word besides retarded that you can use!!!!!????? So fricking ignorant of you people. OUR children are not retarded..."</div>
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In my response to her, I said I was sorry that she was offended. I asked her to point out the articles on our site which refer to individuals with
DS in a derogatory way with the term "mentally retarded", so I could change it. <o:p></o:p></div>
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But, I searched my blog and only found this term used in
medical literature that is being discussed in posts on the blog. And also in one
post where I discuss the concern over the use of the word "retard." I told her I don't believe my brother with DS is stupid, so she must've completely
misunderstood and misread my blog.</div>
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The term "mentally retarded" is what is
commonly used in medical literature as they are researching ways to help
individuals with Down syndrome. To have them disregard this term, would be
completely ridiculous. All this term means is that there is "mental
slowness." The word "retard" means "slow." Is there something
wrong with an individual being slow? Is there something wrong with an
individual having "mental slowness"? I don't believe there is,
therefore this word does not offend me, because it is the medical way to
describe one of the conditions that Trisomy 21 causes.<o:p></o:p></div>
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Is there something to try to run from because your child is "mentally retarded"? In reading medical literature, you will run across the word "mentally retarded." I don't try to hide from this word, because my brother has Down syndrome. Let's face reality. He learns slower. He does some things slower. <i>Big deal!</i> </div>
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There has been a movement, at least in the past, to try to ban the words "mentally retarded", "mental retardation", "retarded", etc from being used in medical literature. To ban these words is crazy, in my opinion, because these are words to describe a symptom. All sorts of conditions & genetic abnormalities have used these words at various times to describe something. This term is used even outside of the medical world to describe various ways things work. </div>
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It seems to me that so many people are offended over this word where it is used because they don't want to face reality. Reality is that individuals with Down syndrome function a little slower than an individual without Down syndrome. Our society has made it such a bad thing and something that nobody wants. So, when a person is faced with the reality that they may have a child now that is going to do things at a slower pace, they try to push every aspect that may hint towards that off. </div>
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But, really, it's not that big of a deal to have a child do things at a slower pace, or to learn things slower. I accept what God has given us and am thankful for it. The genetic anomalies that happen due to the third copy of Chromosome 21 in Down syndrome are not always pretty and those aspects I'd like to stop, or slow down. So, I do what I know is good and what I can to help stop those processes or to at least slow them down. </div>
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Really, I'm thankful I have a brother who takes life a little slower. It's good for us :).</div>
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O has a little bunny who is named "Leo." It was supposed to be a "she" and was named "Lily", but that changed, so HE is now named "Leo." Leo was also supposed to be a French Lop, but he turned out to be a French Lop cross (I think crossed with a breed called the Rhinelander). He's only 4 months old and already a big guy! </div>
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O and him are so cute together.</div>
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<a class="twitter-share-button" data-count="horizontal" data-via="GotDownSyndrome" href="http://twitter.com/share">Tweet</a><script src="http://platform.twitter.com/widgets.js" type="text/javascript"></script>Qadoshyahhttp://www.blogger.com/profile/15824192344524447095noreply@blogger.com0tag:blogger.com,1999:blog-3211143012204688541.post-19646869293875173782013-03-13T07:56:00.003-07:002013-03-13T14:22:01.236-07:00John Marrs UpdateI got an email from Jenny the other day with an update on John Marrs and his website. His website link had changed over the years and she just found out that it had to be updated.<br />
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<a href="http://myplace.frontier.com/~ezlopin/johnmarrs/index.html">http://myplace.frontier.com/~ezlopin/johnmarrs/index.html</a><br />
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I had updated about John Marrs <a href="http://gotdownsyndrome.blogspot.com/2012/03/john-marrs-inducted-into-national-honor.html" target="_blank">last year here</a>. Below is Jenny's newest update:<br />
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<blockquote class="tr_bq">
<span style="font-family: "Times New Roman","serif"; font-size: 12.0pt; mso-ansi-language: EN-US; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin;">John is a senior now.
He just took part in the National Honor Society inducting the juniors. He will
get to wear his honors sash one last time when he graduates in May. He
took Geometry this year. I was worried a little about that, but he has done
himself proud. I talked with his teacher recently because they were going to do
a unit on trigonometry. His teacher said that he hadn't had to modify anything
for him all year, and he was wracking his brain trying to figure out how to get
through trig, which he thought would be hard. John came home one day with a few
problems done. I asked him how he did them, and he actually taught me how. He
sailed through the unit.... </span></blockquote>
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