| Congenital hypopituitarism, characterized by the deficiency of 2 or more anterior pituitary hormones, is rare, with an incidence of 1 in 100,000 live births (24). Its causes include birth trauma and/or asphyxia, which results in disruption of the pituitary stalk, midline defect syndromes, and mutations of genes encoding pituitary transcription factors (25). |
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Originally Posted by whoMe
 How does a large head play into this, is that considered a midline defect?
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Originally Posted by momofmine
I don't remember the exact specifics, PB mentioned this when describing what she said was a picture of "something" and now I can't remember where she said this, but it was in relation to all this tongue tie stuff.
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Originally Posted by sonnambula
It was actually in relation to homeopathy....not midline stuff. Sorry folks...account difficulties.
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Hope all is well with you on the home front.
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Originally Posted by TanyaLopez
Ahh, welcome back, I think.
Hope all is well with you on the home front. |
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Originally Posted by LoisLane
So if I've got three kids with heart murmurs (which my dr said didn't mean anything), identical twins with small butt dimples and large upper lip frenulums, a son with asthma and dairy intolerance and a very large head, a mom and grandma with celiac and other autoimmune issues... would you say I (and my genetic line) have issues?
And if so, where do I start to help -- ourselves and our future generations? |
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Originally Posted by momofmine
I don't remember the exact specifics, PB mentioned this
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Anyone heard from her this week?
That is what I thought. 
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Originally Posted by whoMe
http://www.mothering.com/discussions....php?t=1097364
If folate and vitamin A are the two major players in midline defects, then it's really, really interesting that UVB light depletes folate and creates vitamin D. Especially when you consider that vitamin D can deplete vitamin A levels. Isn't it? |
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Originally Posted by TanyaLopez
But since I'd say, if anything, rates of midline defects are up (am I just assuming this, or is it true?) and time spent in the sunshine is down, and vitamin D levels seem to be down, I'd think, at least for vitamin A, the part of the relationship where one is needed for the other to be fully expressed is more important. I mean--yeah, you're going to need to get more D to get back up to a good level if you're also consuming a fair amount of A, but I see that as your body is doing more stuff, it's not just wasting the D. Because when we use one, we need the other. Don't really know how to fit that scenario in with folate, or even if should fit together the same way though.
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| ...Four categories of genes for which there are results suggestive of a genetic susceptibility to [Orofacial clefting] OCs are: 1) genes expressed in a particular area of the embryo or in a particular period of the palatine arch development, such as the transforming growth factors alpha and beta (TGF alpha, TGF beta 2, TGF beta 3); 2) genes having biological activities linked to the OC's pathogenesis without direct involvement (e.g. the retinoic acid receptor (RARA), the methylenetetrahydrofolate reductase receptor (MTHFR) and the folic acid receptor (FOLR1); 3) genes or locus identified in experimental animals as the homeotic genes MSX-1 and MSX-2; 4) genes involved in the interaction with the xenobiotics metabolism as those in P-450 cytochrome system. Several environmental factors have been implicated in the OC etiology; among those, the folic acid supplementation during the periconceptional period that was found effective in the prevention of neural tube defects. In fact, folic acid deficiency may be responsible for different malformations through a common mechanism that interferes with the embryonic development, depending on the maternal or embryo genotype. Further investigation is required to study in depth how the genotype would modify the role of environmental factors like folic acid. ... |
| Feeding rats a diet containing 1000 IU of retinol/g diet enhances the folate-dependent oxidation to CO2 of formate and histidine. The activity of hepatic methylenetetrahydrofolate reductase [MTHFR], which plays a critical role in the regulation of liver folate metabolism, is suppressed in these animals, resulting in decreased 5-methyltetrahydrofolate synthesis. This ensures a greater concentration of hepatic tetrahydrofolate, the coenzyme on which formate and histidine oxidation depend, but also compromises the level of S-adenosylmethionine in the liver. |
)| ...Moreover, high homocysteine levels have a detrimental effect on NTD-risk even when serum B(12) or RBC folate levels are high. Excess homocysteine might play an independent role in the development of NTDs. ... |
| OBJECTIVE: To investigate the associations between biomarkers and genetic variants involved in homocysteine metabolism and the risk of complex birth defects. METHODS: Total homocysteine (tHcy), folate, cobalamin, apo-transcobalamin (apo-TC) and apo-haptocorrin (apo-HC) were measured in the amniotic fluid of 82 women who were pregnant with a child having a complex birth defect, such as neural tube defect, cleft lip and/or palate, heart defect or omphalocele, and in 110 women pregnant with a non-malformed child. The determined genotypes of the child comprised of 5, 10-methylenetetrahydrofolate reductase (MTHFR 677C > T, 1298A > C), methionine synthase (MTR 2756A > G), methionine synthase reductase (MTRR 66A > G) and transcobalamin (TCN2 776C > G). Univariate and multivariate logistic regression analyses were performed. RESULTS: Significantly lower cobalamin and higher apo-TC, apo-HC, tHcy and folate concentrations were determined in amniotic fluids of cases compared with controls (p< or =0.001). Logistic regression analysis revealed that after adjustment for maternal age, children carrying the MTHFR 677T allele showed a four-fold increased risk of having a complex birth defect, OR (95% CI) = 4.0 (1.1-15.4). Other genotypes did not show significant associations. CONCLUSION: The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects. |
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Originally Posted by whoMe
http://www.mothering.com/discussions....php?t=1097364
If folate and vitamin A are the two major players in midline defects, then it's really, really interesting that UVB light depletes folate and creates vitamin D. Especially when you consider that vitamin D can deplete vitamin A levels. Isn't it? |
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Originally Posted by KatWrangler
Finally reading this thread.
I was told my daughters defect was not the result of lack of Folic Acid. This is by our original Pediatric Neurosurgeon. That it was a fluke that happens at 6-8 weeks gestation. Another words they don't know. I did take prescription strength folic acid with DD2. She was born with a hemangioma but the MRI turned out that she is fine. Have you guys looked at what Duke is doing? http://www.chg.duke.edu/diseases/ntd.html eta - Not sure if there is any info here or not. http://www.spinabifidamoms.com/english/index.html |
But I don't think I've found one yet that takes into account the difference between food folate and folic acid. Some of them talk about supplements vs food, but they include fortified grains as food sources, best I can tell 
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Originally Posted by whoMe
In all the stuff I'm looking up, they're surprised to find inconsistent results, and half the studies say there's no correlation with MTHFR genotype and/or folate status and
But I don't think I've found one yet that takes into account the difference between food folate and folic acid. Some of them talk about supplements vs food, but they include fortified grains as food sources, best I can tell :Did you look into 5-MTHF (i.e. folapro) instead of folic acid? If you have an MTHFR enzyme with 'reduced activity' then as you supplement lots of folic acid, you raise both your active folate levels *and* your useless folic acid levels. Then the two compete in your body, effectively lowering your folate levels again. I'm trying to pick out what's an effect of folate vs homocysteine. (I have reduced MTHFR function but normal homocysteine) The one study in my last post says homocysteine is a major variable for NTD's, but I haven't found a similar study for clefts yet. My current mid-research feeling is that it looks like it's more of a general folate thing. |
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Originally Posted by KatWrangler
But I have had three kids. Only one (the middle child) has a NTD. I ate the same with all three.
Let me throw this out at you. With DS I had mild Morning Sickness. Didn't have to take anything. With DD1 (the one with NTD) I took B6 during the first 12 weeks for MS. I also was very sick twice in early pregnancy. The first was at about 6 weeks and I had stomach flu. Then at about 8 weeks I had an awful sore throat that lasted more than 15 days (I could not swallow. All I could do was drink extremely hot tea in order to numb my throat.) I was so sick I lost 5 pounds in less than three days. I was tested for Strep and it came back negative. I missed a whole week of work because I was so weak. DD2 I had 24 hour MS that lasted almost all of pregnancy. I didn't take B6 because I was scared that is what caused DD1's NTD. |
| It is generally understood that both genetic and environmental factors contribute to the highly complex etiology of structural birth defects, including neural tube defects, oral clefts and congenital heart defects, by disrupting highly regulated embryonic developmental processes. The intrauterine environment of the developing embryo/fetus is determined by maternal factors such as health/disease status, lifestyle, medication, exposure to environmental teratogens, as well as the maternal genotype. Certain genetic characteristics of the embryo/fetus also predispose it to developmental abnormalities. Epidemiologic and animal studies conducted over the last few decades have suggested that the interplay between genes and environmental factors underlies the etiological heterogeneity of these defects. It is now widely believed that the study of gene-environment interactions will lead to better understanding of the biological mechanisms and pathological processes that contribute to the development of complex birth defects. It is only through such an understanding that more efficient measures will be developed to prevent these severe, costly and often deadly defects. In this review, we attempt to summarize the complex clinical and experimental literature on current hypotheses of interactions between several select environmental factors and those genetic pathways in which they are most likely to have significant modifying effects. These include maternal folate nutritional status, maternal diabetes/obesity-related conditions, and maternal exposure to selected medications and environmental contaminants. Our goal is to highlight the potential gene-environment interactions affecting early embryogenesis that deserve comprehensive study. |
I can't imagine what it's like to have a kid with a NTD. I hope you can find the answers you're looking for. Feel free to pick my brain, but since I don't remember seeing you around much, I want to throw out there that I'm still *really* new at this stuff, and not even in school yet. Definitely don't take my word as authority
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