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This week has been a full, busy week between buddy walk, grandparents and some political things.
This morning, I remembered that we had to make O's flag for the walk, since we had lost the flag we have used for the last several years. It's kind of last minute, since the walk is tomorrow!
We changed his team name anyways from O's Ranch Hands to O's Freedom Fighters. We painted it up and got it all together this morning.
It's that time of year again when we do our annual skating trip.
Little O was like a big boy this year and skated with the rest of the crew on the roller blades! He's been practicing for the last year around the house with a pair of roller blades we got. He was so excited and zoomed around. Only got knocked down or fell down a couple times, but he was right back up at it!
Tuesday was the kick-off party for the Down Syndrome Association of Tulsa Buddy Walk. They hold it at Bounce-U every year. This makes it so to that people can pick up their registrations - shirts, bags, buttons, etc - before the walk. And it also is a fun time for the family to play on the inflatables.
O looks forward to it every year. This year all 10 of O's siblings came and he was so thrilled. I think O went up and down the huge slide a hundred times :)!
The guys in my family play on two leagues in our town - yes, there are two men's soccer leagues in a town of 14,000 :). This past Sunday was the finals for one of the leagues. The team they play on in this league played in the 3rd/4th place match.
They won third place quite well: 8-2!
I thought it would be fun to share a few pictures from the game. Two of my cousins, two of my brothers and my dad play on this team (the red shirts). My one brother, Norayah (in blue), is the goal keeper.
The studies Susan included in her email:"I found something I should have thought about a long time ago when I learned that N-acetylcysteine is the experimental and therapeutic best choice as an agent to break apart mucus. Somehow, back then, I didn't think about how this would effect the gut, but others have thought about it and conducted experiments to see what happened. Apparently, taking N-acetylcysteine breaks down the mucus that protects the brush border and the villi in the intestines and it thus increases intestinal permeability.Perhaps finding out that NAC can increase intestinal permeability could explain why some do not do well on it."
JPEN J Parenter Enteral Nutr. 1996 Mar-Apr;20(2):98-104.Adhesive mucous gel layer and mucus release as intestinal barrier in rats.Iiboshi Y, Nezu R, Cui L, Chen K, Khan J, Yoshida H, Sando K, Kamata S, Takagi Y, Okada A.Department of Pediatric Surgery, Osaka University Medical School, Japan.BACKGROUND: Although it has been reported that total parenteral nutrition induces an increased intestinal permeability and a decreased mucous gel layer covering the intestinal epithelium, the role of mucous gel on intestinal permeability has not been well understood. We examined the in vivo effects of N-acetyl cysteine(NAC) as mucolytic agent and colchicine as suppressant of the mucus production on the intestinal transmission of fluorescein isothiocyanate dextran 70,000 (FITC-dextran). METHODS: Rats were divided into four groups. In each group, FITC-dextran (750 mg/kg) with or without NAC (3000 mg/kg) was injected into the small intestinal lumen 3 hours after intraperitoneal injection of saline or colchicine (Col, 10 mg/kg). Thirty minutes after injection of FITC-dextran, blood samples were taken from portal vein to analyze plasma fluorescein concentration by fluorescence spectrometry. Samples of small intestine were sectioned in a cryostat for fluorescence microscopy, and the identical sections were stained by periodic acid-Schiff reaction. RESULTS: Plasma FITC-dextran level in NAC group was higher than that in control group (p < .01), that in Col + NAC group was higher than that in Col group (p < .01) and that in Col + NAC group was higher than that in NAC group (p < .05). The spaces between villi were filled with mucous gel in the control and Col groups, whereas those were not entirely filled with mucous gel in NAC and Col + NAC groups. FITC-dextran and mucous gel showed complementary distribution in all rats. The villous interstitial edema was recognized in NAC group and the villi were disrupted in Col + NAC group.CONCLUSIONS: These results suggest that intestinal permeability is possibly affected not only by the mucous gel covering the intestinal epithelium but also by mucus release from goblet cells of the small intestine.Publication Types:Research Support, Non-U.S. Gov'tPMID: 8676540 [Pubmed - indexed for MEDLINE]1: Comp Biochem Physiol A Mol Integr Physiol. 2000 Jun;126(2):203-12.Decreased colonic mucus in rats with loperamide-induced constipation.Shimotoyodome A, Meguro S, Hase T, Tokimitsu I, Sakata T.Biological Science Laboratories, Kao Corporation, 2606 Akabane, 321-3497 Ichikai-machi, Haga-gun, Tochigi, Japan.Constipation is a risk factor of colorectal cancer. Mucin is a major component of lumenal mucus, which protects the colorectal mucosa against mechanical and chemical damage. The aim of this study was to evaluate mucus production and to quantitate lumen mucus in a rat model of spastic constipation. We induced constipation with loperamide (1.5 mg/kg), and histochemically evaluated mucus production and the thickness of the mucus layer at the fecal surface. We quantitated the mucus attached to the mucosal surface using colonic perfusion with N-acetylcysteine. While more feces remained in the colon, there was less fecal excretion and lower fecal water content in loperamide-administered rats than in control rats. Crypt epithelial cells contained less mucus in constipated rats than in control rats. The mucus layer at the fecal surface was thinner and less mucus was recovered from the mucosal surface in constipated rats than in control rats. Mucus production of crypt epithelial cells and mucus at the fecal and mucosal surface were reduced by loperamide-induced constipation.PMID: 10936760 [Pubmed - indexed for MEDLINE]2: JPEN J Parenter Enteral Nutr. 1999 Jan-Feb;23(1):19-23.Role of intestinal mucus on the uptake of latex beads by Peyer's patches and on their transport to mesenteric lymph nodes in rats.Khan J, Iiboshi Y, Cui L, Wasa M, Okada A.Department of Pediatric Surgery, Osaka University Medical School, Japan.BACKGROUND: The effects of N-acetylcysteine (NAC) as a mucolytic agent on the uptake of fluorescent polystyrene microparticles by Peyer's patches, on intestinal permeability, and on subsequent transport to mesenteric lymph nodes (MLNs) were investigated to establish the role of mucus gel layer in this process. METHODS: Twenty rats were divided into two groups: control (n =10) and NAC (n = 10). Fluorescent polystyrene latex beads of 3.2+/-0.2 microm in diameter were used as a probe for measuring the previously mentioned parameters. The solution of latex beads (0.1 mL) was injected into a 2-cm length of ileal loop containing Peyer's patches, with 0.1 mL of saline (control group) or with 0.1 mL of NAC solution (NAC group) within 10 cm proximal from the ileocaecal valve.Intestinal loops, portal blood, and neighboring MLNs were taken within 1 hour of injection. Intestinal sections were stained by periodic acid-Schiff reagent. Peyer's patches and MLNs were analyzed for the count of particles by image analysis using a confocal laser scanning microscope. RESULTS: Morphologically, periodic acid-Schiff positive uniform mucus gel was present in front of Peyer's patches of the control group, and mucus gel layer was disrupted and noncontinuous in the NAC group. The number of particles within Peyer's patches and MLNs in the NAC group was significantly higher than that in the control group (p<.001). Intestinal permeability of latex beads in the NAC group was significantly higher than that in the control group (p<.001). CONCLUSIONS: These data suggest that the mucus gel layer located in front of Peyer's patches is one of the important factors for the uptake of noxious macromolecules, and this in turn plays a major role on small intestinal permeability and subsequent translocation to MLNs.PMID: 9888413 [Pubmed - indexed for MEDLINE]3: JPEN J Parenter Enteral Nutr. 1996 Nov-Dec;20(6):406-11.Developmental changes in distribution of the mucous gel layer and intestinal permeability in rat small intestine.Iiboshi Y, Nezu R, Khan J, Chen K, Cui L, Yoshida H, Wasa M, Fukuzawa M, Kamata S, Takagi Y, Okada A.Department of Pediatric Surgery, Osaka University Medical School, Japan.BACKGROUND: From the developmental aspects, the distribution of fluorescein isothiocyanate dextran 70,000 (FTTC-dextran) and mucous gel across the lumen of small intestine was observed as an investigation into the role of mucous gel on intestinal permeability. Furthermore, the effect of N-acetyl cysteine (NAC), a mucolytic agent, on intestinal permeability was examined. METHODS: In suckling and weaned rats, FTTC-dextran (750 mg/kg body wt) was gavage-fed. After 3 hours, blood samples were taken by cardiac puncture to analyze plasma FTTC-dextran by fluorescence spectrometry. Samples of small intestine with luminal contents were frozen and sectioned in a cryostat for fluorescence microscopy; the same sections were placed in a 0.2% celloidin solution to preserve mucous gel and were stained by periodic acid-Schiff reaction for light microscopy. In weaned rats, intestinal permeability was examined with different concentrations of intraluminally instilled NAC. RESULTS: The plasma level of FTTC-dextran showed a significant increase (p < .01) in suckling rats compared with the weaned rats. Morphologic findings were similar in both the jejunum and ileum: The spaces between villi were not entirely filled with mucus but filled with FTTC-dextran in suckling rats, whereas the spaces were filled with mucus and not filled with FTTC-dextran in weaned rats. Intestinal permeability in groups with NAC were significantly higher (p < .01) than that in group without NAC. CONCLUSIONS: These results suggest that an increase in the mucous gel layer that coats the epithelial lining according to the maturation of the gastrointestinal tract is one of the most important factors for a restriction in intestinal permeability.Publication Types:Research Support, Non-U.S. Gov'tPMID: 8950741 [Pubmed - indexed for MEDLINE]
You may remember me posting about a new vitamin formulation for Down syndrome about a year ago that was called New Downs. You can view that post here.
I still have the same concerns and thoughts as I did then. But, I received an email back in the spring that they had made some changes to their formula. This is what they changed:
From the research I have done, NAC should not be used in Down Syndrome. It has been shown to increase oxidative stress in people with DS and it also appears that it can cause leaky gut.I will go into more detail about the concerns with NAC in a blog post tomorrow.
It's been months since I read a study on Down syndrome, but the subject of folate metabolism and hte CBS gene always catches my eye. I have plenty of articles stored away to look at, just haven't taken the time to read them.
The study below was just published this month - October.
This study looks at genetic polymorphisms on the folate pathway. There are multiple genetic polymorphisms involved in Down syndrome - CBS & MTHFR to name a couple. These cause problems in Homocysteine (Hcy), SAH (S-adenosylhomocysteine), SAM (S-adenosylmethionine), B12 and folate levels. You can see the full text of the study at the link below.
I've blogged about this quite a bit on here. If you just search on the side of the blog for "folate", "homocysteine", "cbs gene", "SAM", etc, you'll find related blogs about it.
Genetic polymorphisms modulate the folate metabolism of Brazilian individuals with Down syndrome.
Abstract
Individuals with Down syndrome (DS) carry three copies of the Cystathionine β-synthase (CβS) gene. The increase in the dosage of this gene results in an altered profile of metabolites involved in the folate pathway, including reduced homocysteine (Hcy), methionine, S-adenosylhomocysteine (SAH) and S-adenosylmethionine (SAM). Furthermore, previous studies in individuals with DS have shown that genetic variants in genes involved in the folate pathway influence the concentrations of this metabolism's products. The purpose of this study is to investigate whether polymorphisms in genes involved in folate metabolism affect the plasma concentrations of Hcy and methylmalonic acid (MMA) along with the concentration of serum folate in individuals with DS. Twelve genetic polymorphisms were investigated in 90 individuals with DS (median age 1.29 years, range 0.07-30.35 years; 49 male and 41 female). Genotyping for the polymorphisms was performed either by polymerase chain reaction (PCR) based techniques or by direct sequencing. Plasma concentrations of Hcy and MMA were measured by liquid chromatography-tandem mass spectrometry as previously described, and serum folate was quantified using a competitive immunoassay. Our results indicate that the MTHFR C677T, MTR A2756G, TC2 C776G and BHMT G742A polymorphisms along with MMA concentration are predictors of Hcy concentration. They also show that age and Hcy concentration are predictors of MMA concentration. These findings could help to understand how genetic variation impacts folate metabolism and what metabolic consequences these variants have in individuals with trisomy 21.
PMID:
22903356
[PubMed - in process]
I thought I would close with this quote from the Discussion section of the full text:
In conclusion, our results indicate that the MTHFR C677T, MTR A2756G, TC2 C776G and BHMT G742A polymorphisms along with MMA concentration are predictors of Hcy concentration. They also show that age and Hcy concentration are predictors of MMA concentration. These findings could help to understand how genetic variation impacts folate metabolism and what metabolic consequences these variants have in individuals with trisomy 21.
I was looking at our website and some of the articles I have on there and thought I'd dig this one up out of the archives. Back in 2007, when I was 17 years old, I read an article called, "What it Really Takes to Raise a Child with Down Syndrome." This article disgusted me, so I wrote a response. The response I wrote was published on AssociatedContent.com and also here on the blog.
The Joy of Raising a Child with Down Syndrome!
I read the article “What it Really Takes to Raise a Child with Down Syndrome” and something did not sit well with me about it. It is because I have a sweet little brother with Down syndrome and I have first-hand experience on what it takes to raise a child with Down syndrome. I do not know whether the author of this article does or not, but she did not give a very good picture of an individual with Down syndrome. This article did point out that there are a lot of therapies that are now available for those with Down syndrome, which is good.
There are a few things that I wish to point out:
~ “Then they are faced with the decision of whether or not they would be able to care for all of the needs of the baby by themselves. . . . Of course this article is in no way suggesting that you should not raise your own child, but instead it will highlight exactly what would be required on the part of the parent. It is up to the parent in order to decide if they can handle the situation or if they will need help, or if they just can not deal with the situation.”
~ “First of all you will need to realize that someone will have to be with your baby all of the time. Even as they grow older they will need constant supervision and attention . . . One thing that parents need to keep in mind is that children with Down syndrome do not grow or learn at the same rate as other children their age.”
~ “You will also have to get your child checked by their doctor on a regular basis. Most children who are born with Down syndrome also have other health problems or may develop additional health problems later on.”
