In January, in Japan, 25 hospitals refused to permit an ambulance to transport a man who was pronounced dead when he finally arrived at a hospital.
Were the patients already in the ED (Emergency Department) less stable than this patient?
Was this patient going to be the straw that breaks the camel’s back and result in the deaths of other patients already in the ED?
What kind of evidence do we have to justify diversion?
... Read more »
Khaleghi, M., Loh, A., Vroman, D., Chan, T., & Vilke, G. (2007) The Effects of Minimizing Ambulance Diversion Hours on Emergency Departments. The Journal of Emergency Medicine, 33(2), 155-159. DOI: 10.1016/j.jemermed.2007.02.014
Vilke, G., Castillo, E., Metz, M., Upledger Ray, L., Murrin, P., Lev, R., & Chan, T. (2004) Community trial to decrease ambulance diversion hours: The San Diego county patient destination trial. Annals of Emergency Medicine, 44(4), 295-303. DOI: 10.1016/j.annemergmed.2004.05.002
Burke, L., Joyce, N., Baker, W., Biddinger, P., Dyer, K., Friedman, F., Imperato, J., King, A., Maciejko, T., Pearlmutter, M.... (2013) The Effect of an Ambulance Diversion Ban on Emergency Department Length of Stay and Ambulance Turnaround Time. Annals of Emergency Medicine, 61(3), 303-3110. DOI: 10.1016/j.annemergmed.2012.09.009
The paper by Christina Muratore and colleagues* (open-access) including Dick Deth and Antonio Persico in the authorship line-up, is the source of today's post. Concerned with quite an important enzyme, methionine synthase (MS), and in particular MS mRNA status in post-mortem frontal cortex samples, the authors report lower levels of MS mRNA in cases of autism. I should add that quite a good overview of this paper can also be found here.Recycle @ Wikipedia OK, let's start from the beginning here. Methionine synthase (MS) is an important enzyme concerned with the regeneration of methionine from homocysteine.Homocysteine or the 'big H' has been mentioned on more than one occasion on this blog with autism in mind (see here and quite recently here). Indeed, the relationship between methionine and homocysteine intersects a number of other important cycles including those related to folate metabolism and the important methyl-giving properties of SAMe (see this post to see what I'm talking about) and further down the line, that all-important glutathione link (see this post). Oh and it's vitamin B12 dependent.Anyhow...In this study, levels of messenger RNA (mRNA) - an important part of the translation of DNA to proteins - for MS were studied in post-mortem brain samples from deceased person who were diagnosed with autism (n=10) and control, not-autism persons (n=41). Ages at death ranged from 4-30 years for the autism group and 28 weeks - 83 years for the control group.Based on the application of qRT-PCR, MS mRNA status across the lifespan of samples included suggested a "striking age-dependent decrease in mRNA levels". In other words, the older the person at time of their death, the less MS mRNA levels were detected in the frontal cortex samples. That being said, they didn't observe corresponding alterations to the level of MS protein despite this age-related change. With the autism group specifically in mind and depending on the primers used to detect specific domains of MS, mRNA levels were reduced compared to controls. The caveat being that again, levels of MS protein were not different when comparing autism vs. controls. That and the suggestion of a lack of an age-dependent decrease in MS mRNA in autism compared to that observed across control samples. Oh and the fact that addition of the pro-inflammatory cytokine TNF-α also seemed to affect levels of MS mRNA.There were also some additional findings reported which warrant further attention. So when looking at some of the main players related to that methionine cycle (including methionine, homocysteine, glutathione, etc) in frontal cortex samples (via HPLC) in autism (n=10) and control (n=8) samples, only two parameters came up different: lower, yes lower, homocysteine levels in the autism group alongside lower cystathione levels. Immediately I'm taken back to the recent paper by Jill James discussed quite recently (see here) and their cautions on the use of peripheral markers to denote what might be happening in the brain, albeit with the caveat that the Muratone group was quite a small group.There are some other details included in this paper regarding "alternative splicing of MS mRNA" but I wouldn't pretend to know all the ins-and-outs of these findings. Suffice to say that there is a suggestion that oxidative stress might have some role to play in what happens to MS both over the course of normal ageing and potentially also in cases of autism.There's not a great deal more to add about this paper. Yes, again research with a reliance on post-mortem brain samples and all the caveats that go alongside their use (cause of death, comorbidity, etc.). Again however we are presented with some tantalising data about the processes around an important enzyme which has quite a bit of research around it with autism in mind. That alongside some interesting differences found between measures in brain compared with other peripheral tissues which starts to ask some interesting questions about the application of such secondary measures.----------* Muratore CR. et al. Age-dependent decrease and alternative splicing of methionine synthase mRNA in human cerebral cortex and an accelerated decrease in autism. PLoS ONE. 2013; 8: e56927.----------Muratore, C., Hodgson, N., Trivedi, M., Abdolmaleky, H., Persico, A., Lintas, C., De La Monte, S., & Deth, R. (2013). Age-Dependent Decrease and Alternative Splicing of Methionine Synthase mRNA in Human Cerebral Cortex and an Accelerated Decrease in Autism PLoS ONE, 8 (2) DOI: 10.1371/journal.pone.0056927... Read more »
Muratore, C., Hodgson, N., Trivedi, M., Abdolmaleky, H., Persico, A., Lintas, C., De La Monte, S., & Deth, R. (2013) Age-Dependent Decrease and Alternative Splicing of Methionine Synthase mRNA in Human Cerebral Cortex and an Accelerated Decrease in Autism. PLoS ONE, 8(2). DOI: 10.1371/journal.pone.0056927
In a recent study researchers from the King's College London, led by Professor Paul Sharpe, have presented a new stem cell-based method for the development of artificial teeth that are very similar to the naturally occuring ones. Obviously, the study has great implications in the field of tooth replacement.Full Story... Read more »
Angelova Volponi, A., Kawasaki, M., & Sharpe, P. (2013) Adult Human Gingival Epithelial Cells as a Source for Whole-tooth Bioengineering. Journal of Dental Research. DOI: 10.1177/0022034513481041
About 1 in 8 women in the U.S. will develop breast cancer at some point in her lifetime. In 2013, an estimated 40,000 breast cancer deaths will occur in the U.S. and 300,000 women will be diagnosed with invasive or in situ malignancies. It’s not only one of the most common cancers, but it’s also [...]... Read more »
Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A.... (2013) Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles. PloS one, 8(2). PMID: 23409019
A recent inspirational CrossFit Games 2013 motivational post compares the decision to participate in the CrossFit Games 2013 Open with Cortez conquering the Aztecs. Here is a chopped up part...The post CrossFit Games 2013: doing a WOD with Syphilis appeared first on WODMasters Stiff Competition.... Read more »
Pepping GJ, & Timmermans EJ. (2012) Oxytocin and the biopsychology of performance in team sports. TheScientificWorldJournal, 567363. PMID: 22997498
Further evidence that Bmal1 regulates metabolism in a not so good manner.... Read more »
Shi, S., Ansari, T., McGuinness, O., Wasserman, D., & Johnson, C. (2013) Circadian Disruption Leads to Insulin Resistance and Obesity. Current Biology, 23(5), 372-381. DOI: 10.1016/j.cub.2013.01.048
The Wall Street Journal has a superb write-up of a Nepalese man infected with extremely drug resistant tuberculosis (XDR-TB) who is currently detained at the US border in South Texas.
Traveling in all of the modern ways known to man – by foot, car, boat and plane – the man ventured from his home in Nepal, traipsing through South Asia, flying to Brazil and hoofing it through Central America until reaching the southernmost tip of Texas.... Read more »
Centers for Disease Control and Prevention (CDC). (2012) Public health interventions involving travelers with tuberculosis--U.S. ports of entry, 2007-2012. MMWR. Morbidity and mortality weekly report, 61(30), 570-3. PMID: 22854625
Maybe you’re not really into it when you have a splitting headache, but new research proves that sexual activity can acutally sooth or even stop your pain.... Read more »
Hambach, A., Evers, S., Summ, O., Husstedt, I., & Frese, A. (2013) The impact of sexual activity on idiopathic headaches: An observational study. Cephalalgia. DOI: 10.1177/0333102413476374
The Wall Street Journal has a superb write-up of a Nepalese man infected with extremely drug resistant tuberculosis (XDR-TB) who is currently detained at the US border in South Texas. XDR-TB is resistant to four of the major types of antibiotics that are used to treat and control TB infections and this man is the first [...]... Read more »
Centers for Disease Control and Prevention (CDC). (2012) Public health interventions involving travelers with tuberculosis--U.S. ports of entry, 2007-2012. MMWR. Morbidity and mortality weekly report, 61(30), 570-3. PMID: 22854625
Johns Hopkins Children’s Center
Child received antiretroviral treatment within 30 hours of birth; case could pave way to eliminating HIV infections in children, researchers say... Read more »
Hub staff report. (2013) Infant born with HIV reportedly cured. Johns Hopkins Children’s Center. info:/
This is a cross-post from the wonderfully informative Science of Eating Disorders blog. ScienceofED covers a broad range of peer-reviewed research articles related to all aspects of eating disorders. Head over and check it out! Eating disorders come in all shapes and sizes, but all of them are characterized by the same goal: to avoid weight gain or [...]... Read more »
Guarda AS, Coughlin JW, Cummings M, Marinilli A, Haug N, Boucher M, & Heinberg LJ. (2004) Chewing and spitting in eating disorders and its relationship to binge eating. Eating behaviors, 5(3), 231-9. PMID: 15135335
Bacteria that cause pimples are present on everybody's skin. But what about those lucky people who always have flawless skin?... Read more »
Fitz-Gibbon, S., Tomida, S., Chiu, B., Nguyen, L., Du, C., Liu, M., Elashoff, D., Erfe, M., Loncaric, A., Kim, J.... (2013) Propionibacterium acnes Strain Populations in the Human Skin Microbiome Associated with Acne. Journal of Investigative Dermatology. DOI: 10.1038/jid.2013.21
A paper by Jill James and colleagues* (open-access) caught my eye recently. Centred on Engrailed-2 (EN-2), a gene with more than a passing relationship to cases of autism (see here), James et al report results based on analysis of a small number of post-mortem cerebellar samples with a particular focus on an epigenetic evaluation.Cerebellum @ Wikipedia What is epigenetics? Well, I've written before about some of the basic concepts involved (see here) and how despite not everyone being enamoured with the rise and rise of the science, the discipline of epigenomics adds quite a distinctive layer to the functioning of a persons genome.The basic tenet: your DNA might not necessarily be your destiny and that subtle changes to the epigenome can influence the expression of certain genes or not. Certainly in areas such as cancer medicine, epigenetics is starting to make some real waves (see here).With autism in mind, epigenetics is also starting to make an impact on the scientific literature and promises so much more. I'm taken for example, back to some previous work looking at prefrontal cortex neurons** with autism in mind which concluded that there might be more to see in this area at least for some cases of autism.Anyhow....James and colleagues focused on cerebellar samples because (a) the cerebellum has been a real area of interest to autism research, and (b) EN-2 is "highly expressed in Purkinje cells"; reaffirming some interesting observations noted about Purkinje cells in the cerebellum of people with autism***.They analysed 26 samples from 13 people with autism and 13 asymptomatic controls. Details of how participants died and other details are provided in the paper, bearing in mind the various discussions on how post-mortem brain samples from those deceased who had autism are subject to various confounders including how they died and the role of any comorbidity. Incidentally, some of the autism samples originated from the same place which had that very unfortunate freezer malfunction last year (see here).Various methods and techniques were used to assess the details of epigenetic functions focused on methylation. I can't and won't pretend to understand all of them but interestingly as well as looking at EN-2 promoter region methylation, global methylation and "the methylation status of histones H3K27 (associated with gene silencing) and histone H3 lysine 4 (H3K4; associated with gene activation)" was also included (see here), part of the histone code.Results: some interesting ones such as the finding of hypermethylation of DNA extracted from autism cerebellum samples, which contrasts sharply with the DNA hypomethylation of immune cells noted by some of the authorship group on another occasion****. The authors speculate that this could be indicative of "tissue-specific" DNA methylation in autism; also noting that short of looking at brain samples - which is neither desirable or feasible for the living - we can't conclude too much from "peripheral cell DNA methylation patterns". This should make for some interesting future discussions I reckon.Alongside this global hypermethylation, James reports hypermethylation of the EN-2 promoter region. This, alongside sustained gene expression of EN-2 and greater levels of EN-2 protein in the autism samples. Similarly when looking at the methylation of histones (H3K27 and H3K4), the histone H3K27 which is linked to gene suppression was decreased and the histone H3K4 linked to gene activation, was increased (albeit not significantly).Assuming that I've understood this all correctly, the suggestion is that epigenetic issues with the histones involved in gene suppression or gene activation (via methylation) were congruent with a pattern of "sustained EN-2" gene over-expression which might tie into the loss of Purkinje cells***** noted in the cerebellum of some people with autism. At least I think so.It all makes for some really rather interesting findings. That for example, the modification of histones ties into the levels of gene expression and importantly gene protein levels is really exciting and perhaps a valuable addition to the notion that mutation in the form of SNPs are the only influencing variable on gene function. Indeed that an epigenetic process might affect the timing of gene activation/suppression at critical periods of development is also an important point bearing in mind that we don't all walk around with all our genes permanently stuck in the 'on' position.One also starts to wonder about not just the availability of methyl groups in this process but also the functioning of things like the DNA methyltransferase enzyme family (adding methyl groups) and indeed the demethylase enzymes (removing methyl groups) and the circumstances of their control at certain periods of development. Indeed methylation is only one facet of histone modification, as per the acetlyation and deacteylation of histone which potentially brings us back to things like the valproate connection being made to cases of autism (see here). It's all quite complicated.Perhaps just as important are the implications of hypermethylation and those histone modifications to other genes tied into things like neuronal development and immune function in conditions like autism. Noting for example the Saxena paper (covered here) and their linking quite a few of the autism-related genes to things like immune function, James and colleagues make mention of one demethylase, JMJD3 (see here) and its potential link to the "IL-6 gene promoter" with regards to processes such as neuroinflammation. Certainly one has to ponder how deep the rabbit hole goes.OK, coming back down to earth, caution is required in that this was a relatively small scale study which is again, always going to be confounded by the use of post-mortem brain samples and factors such as cause of death and the important point that autism is a behavioural label and that link of possible heightened comorbidity. Added to the fact that the focus was on one particular gene - one of quite a few - with some apparent connection to autism, the results should be viewed as preliminary at best.That being said, we have a template now for expanding this area of work to cover other candidate genes in different tissues, to start working on those all-importan... Read more »
James SJ, Shpyleva S, Melnyk S, Pavliv O, & Pogribny IP. (2013) Complex epigenetic regulation of Engrailed-2 (EN-2) homeobox gene in the autism cerebellum. Translational psychiatry. PMID: 23423141
The last paper we were working on for the EMS Research Podcast was this paper on the use of a bougie in the intubation of a simulated patient with spinal immobilization.
Is BAI (Bougie-Assisted Intubation) an improvement over traditional intubation (ETI or EndoTracheal Intubation)?... Read more »
Messa, M., Kupas, D., & Dunham, D. (2011) Comparison of Bougie-Assisted Intubation with Traditional Endotracheal Intubation in a Simulated Difficult Airway. Prehospital Emergency Care, 15(1), 30-33. DOI: 10.3109/10903127.2010.519821
In a new study, researchers from the University of Minnesota's Lillehei Heart Institute (UMLHI) used induced pluripotent stem cells (iPSCs) and a novel genetic repair method to create skeletal stem cells, which in turn were used to partially restore muscle function in a Duchenne Muscular Dystrophy (DMD) mouse model.Full Story... Read more »
Filareto, A., Parker, S., Darabi, R., Borges, L., Iacovino, M., Schaaf, T., Mayerhofer, T., Chamberlain, J., Ervasti, J., McIvor, R.... (2013) An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. Nature Communications, 1549. DOI: 10.1038/ncomms2550
Humans and our lice are even closer travel companions than Kourtney and Kim when they took New York. The parasites cling to us more tightly than Paris Hilton's new BFF. They've been such cozy acquaintances of ours, in fact, that the story of human evolution is written into their genes.
That's what Marina Ascunce and other researchers at the University of Florida found when they sampled lice from around the world and compared their DNA. In the chromosomes of these wingless bloodsuckers, they discovered a window on human culture almost as good as a flip through the TV guide.
"Lice" is a four-letter word that can inspire dread in the hearts of kindergarten teachers, moms and dads, and well-coiffed middle schoolers. An infestation of head lice is usually harmless, if horrifying. Ascunce and her coworkers point out, though, that head lice in the United States, Nepal and Ethiopia have been found carrying disease-causing bacteria.
What Not to Wear
More dangerous than head lice are body or clothing lice, which mostly affect the homeless and people living in refugee camps. These lice can carry at least three kinds of bacteria that are dangerous to humans. Over the past few decades, the authors write, there have been several disease outbreaks tied to body lice—including an outbreak of epidemic typhus (caused by the bacterium Rickettsia prowazekii) in Burundi that sickened more than 45,000 people.
Body and head lice belong to the same species (Pediculus humanus). Yet the two subspecies, like knockoff shows on different TV channels, make up separate populations that don't encounter each other in nature.
The Pickup Artist
The researchers used lice that had been plucked off of humans in 11 locations around the world. Head lice came from a few sites each in the United States, Asia, and Europe, plus Honduras. There were also body lice from Nepal and from a homeless shelter in Canada, for a total of 93 lice.
Incidentally, head lice infestations usually include more females than males. It's not clear why, but when you have lice, your scalp is like one big rose ceremony.
House Hunters International
By letting them stow away in our hair while our own species migrated around the world, we've created unique geographic populations of lice. The head lice in this study fell into into three distinct groups based on their shared DNA. Asian lice (from Thailand, Nepal and Cambodia) made up one group. Lice from Honduras were another distinct group. Lice in the United States, though, were in the same genetic cluster as those from Europe.
Louse DNA shows plenty of evidence of inbreeding. This isn't too surprising when you consider that populations reproduce as fast as they can while staying marooned on one person's head (and that new infestations can result from just one egg-bearing female crawling onto a fresh scalp). The most-inbred lice were found in New York.
19 Kids and Counting
Compared to their highly inbred head cousins, body lice showed a little more diversity. One reason for this, the authors point out, may be that body lice have more young. A female head louse can leave 150 eggs nestled and glued into her host's hair; a female body louse may leave twice that many eggs in the seams and hems of a person's clothing.
MXC: Most Extreme Elimination Challenge
Another factor that has probably contributed to low diversity in lice populations is our ongoing effort to kill them. Head lice infestations have increased around the world, the authors write, in part because the bugs have developed resistance to the insecticides we dump on kids' heads. A dousing with poison may leave behind a few hardy lice, which can then repopulate the whole area. (Biologists call this kind of population narrowing and regrowth a "bottleneck.")
Britain's Worst Celebrity Driver
Actually it has nothing to do with lice, but did you guys know this was a real show?
The Real World: Boston
The American lice sampled by Ascunce and her colleagues (from New York, San Francisco, and Florida) were a genetic match to the European lice (which came from Norway and the United Kingdom). If this pattern holds up across the United States and Europe, it would suggest that the lice Americans carry traveled to the New World along with European colonists. In other words, we have Columbus's lice.
Sarah Palin's Alaska
The genetically distinct lice found in Honduras, though, don't seem to have come over with the pilgrims. The authors think it's possible that the Honduran bugs represent the native American lice. Perhaps they came here on the heads of more ancient humans who crossed into this continent from Asia, traveling across the Bering Strait and down through Alaska long before Europeans arrived.
An earlier study of louse mitochondrial DNA (genetic material that's only passed through mothers) turned up a distinct genetic group that's present in Europe, Australia, and the New World, but not in Africa. It's possible that this DNA, rather than having come from the lice our most ancient ancestors carried out of Africa, represents lice those humans picked up while hobnobbing with Neanderthals on their way through Eurasia.
Survivor: Heroes vs. Villains
The story of our conflict with lice is a classic one. As long as the insects keep developing resistance to our poisons and fighting back when we try to kill them, this series isn't likely to ever get canceled.
Ascunce, M., Toups, M., Kassu, G., Fane, J., Scholl, K., & Reed, D. (2013). Nuclear Genetic Diversity in Human Lice (Pediculus humanus) Reveals Continental Differences and High Inbreeding among Worldwide Populations PLoS ONE, 8 (2) DOI: 10.1371/journal.pone.0057619
Image: Gilles San Martin (via Wikimedia Commons)
... Read more »
Ascunce, M., Toups, M., Kassu, G., Fane, J., Scholl, K., & Reed, D. (2013) Nuclear Genetic Diversity in Human Lice (Pediculus humanus) Reveals Continental Differences and High Inbreeding among Worldwide Populations. PLoS ONE, 8(2). DOI: 10.1371/journal.pone.0057619
Alcohol became the third leading cause of the global burden of disease and injury, in spite of the fact that most adults abstain from drinking globally.
The journal Addiction published this finding.
Last month, researchers reported that alcohol can increase the chances of cancer and cancer related deaths . In another study, researchers reported that alcohol intake could result in sleep deprivation in obese people.
“Alcohol consumption has been found to cause more than 200 different diseases and injuries,” Kevin Shield , doctoral student and lead author of the study, said in a statement. “These include not only well-known outcomes of drinking such as liver cirrhosis or traffic accidents, but also several types of cancer, such as female breast cancer.”
According to experts, the global burden of disease and injury caused by alcohol is not only large but is also growing. In 2010, alcohol caused about 5.5% of overall burden, i.e. third after high blood pressure and tobacco smoking, and 67 risk factors overall.
The researchers, in this study, analyzed the results from population surveys, sales or production data, and data on alcohol consumption not covered in official records, from all countries, territories and regions.
Researchers found that about 30% of alcohol consumed in 2005 was “unrecorded”.
“The amount of unrecorded alcohol consumed is a particular problem, as its consumption is not impacted by public health alcohol policies, such as taxation, which can moderate consumption,” said Jürgen Rehm , Ph.D., a study author.
“Improving alcohol control policies presents one of the greatest opportunities to prevent much of the health burden caused by alcohol consumption,” said Shield.
Shield, K., Rylett, M., Gmel, G., Gmel, G., Kehoe-Chan, T., & Rehm, J. (2013). Global alcohol exposure estimates by country, territory and region for 2005-a contribution to the Comparative Risk Assessment for the 2010 Global Burden of Disease Study Addiction DOI: 10.1111/add.12112... Read more »
Shield, K., Rylett, M., Gmel, G., Gmel, G., Kehoe-Chan, T., & Rehm, J. (2013) Global alcohol exposure estimates by country, territory and region for 2005-a contribution to the Comparative Risk Assessment for the 2010 Global Burden of Disease Study. Addiction. DOI: 10.1111/add.12112
That’s a really great question. Whether we watch, read, or listen to the news, I’m sure we have all had the feeling of being sick about it; be it the story itself or how it is presented. A huge proportion of our news seems to be negatively biased – but why? The answer has, in [...]... Read more »
Johnston WM, & Davey GC. (1997) The psychological impact of negative TV news bulletins: the catastrophizing of personal worries. British journal of psychology (London, England : 1953), 85-91. PMID: 9061893
Marin, M., Morin-Major, J., Schramek, T., Beaupré, A., Perna, A., Juster, R., & Lupien, S. (2012) There Is No News Like Bad News: Women Are More Remembering and Stress Reactive after Reading Real Negative News than Men. PLoS ONE, 7(10). DOI: 10.1371/journal.pone.0047189
Researchers from the University of California (UCS), led by Somdutta Roy, have discovered a new type of stem cell called "endogenous pluripotent somatic cell" (ePSC). Similarly to embryonic stem cells, ePSCs are pluripotent and have the capacity to transform into many different types of specialised cells like the ones comprising brain, heart, skin and pancreatic tissue. The researchers consider their findings to be a major breakthrough in stem cell research.Full Story... Read more »
Somdutta Roya, Philippe Gascarda, Nancy Dumonta, Jianxin Zhaoa, Deng Pana, Sarah Petriea, Marta Margeta, & Thea D. Tlstya. (2013) Rare somatic cells from human breast tissue exhibit extensive lineage plasticity. Proceedings of the National Academy of Sciences. info:/
The short report by Malhotra and colleagues* linking a case of the regressive condition childhood disintegrative disorder, CDD (otherwise known as Heller's syndrome) with vitamin B12 deficiency and hyperhomocysteinemia has grabbed my attention.Malhotra et al report that following the identification of said nutritional issues, supplementation with vitamin B12 and a few other nutrients, seemed to correlate with some improvements in the 14 year old at the centre of this paper, according to parental reports. The authors suggest: "A case is made for vitamin B12 deficiency syndrome presenting as CDD".Methyl Curt Cobain... er, cobalamin @ Wikipedia Bearing in mind the overlap between CDD with autism or autistic-like behaviours, and that the Malhotra paper was a case report (good news when it comes to the autism and n=1 philosophy), one has to caution against making any sweeping generalisations to the autisms as a whole. That being said and bearing in mind others have talked about developmental regression** being linked to hypocobalaminemia, it did make me take a look at some of the other scientific literature on any link between vitamin B12 and autism.I have actually talked about vitamin B12 before on this blog. A few times in fact; ranging from vitamin B12 optic neuropathy presenting in cases of autism (see here and the paper is here), to vitamin B12 deficiency being picked up in cases of autism (see here), to the very much under-investigated issue of methylmalonic acid (MMA) alongside cases of autism (see here). Slightly outside of autism research, vitamin B12 has also been discussed with thin-fat bodies in mind (see here) and its relationship with the epigenome.Given also the connection between vitamin B12 and that other B-vitamin of the moment with autism in mind, folic acid, this post turns out to be quite timely.Whilst there is not a great expanse of literature on the topic of vitamin B12 and autism, there are a few other points worth noting:Not all vitamin B12 is equal (or some are more equal than others, to coin a phrase). As with the example of folic acid, vitamin B12 can appear in more than one form (the so-called vitamers) seemingly also related to how we ingest/supplement with the stuff and what form our body actually use.Methyl B12 (methylcobalamin) has been looked at as a possible intervention for cases of autism as per the study by Bertoglio and colleagues***. The results on that occasion were not exactly universally successful in terms of behavioural outcomes, although there was the suggestion of a sub-group of possible responders to this intervention. Indeed based on an abstract presented at IMFAR 2012, it appears that responders might be linked to another favourite topic of this blog, glutathione (see here).The combinatorial use of methylcobalamin and another compound of interest, folinic acid (see this post) has also been the topic of some investigation with autism in mind as reported by Jill James and colleagues**** (open-access). The intervention appeared to affect several important biochemical parameters but some unanswered questions on clinical outcome remained.Although seemingly unrelated to vitamin B12, I was alerted to a recent study by Parks and colleagues***** on how specific strains of bacteria have the ability to turn inorganic mercury into methylmercury. Whilst this biochemical process may not initially seem particularly exciting or relevant to this post, when you conisder the role of cobalmin (vitamin B12) in this process (as per the result reported by Choi and Bartha****** for example and the action of being a methyl donor), one becomes slightly more interested in light of reports of elevated heavy metals being present in cases of autism and of course all that gut bacteria work being undertaken. I'm not making too much of this research at the moment despite it being mentioned by others, aside from illustrating how even vitamins are pharmaceutics and their use should be treated as such.Accepting again that the literature on vitamin B12 and autism is not exactly voluminous, there are some interesting strands of research which potentially connect the two things together requiring much greater study. Outside of the autism connection (or not), vitamin B12 has some interesting links with other things such as propionic acid for example (itself covered in separate posts on this blog, see here and here) which might also be a source of discussion.One of the main drawbacks of supplementing with vitamin B12 (or specifically methyl B12) where indicated is the requirement for delivery by subcutaneous injection. This might be OK if you are used to repeated injections such as those required for type 1 diabetes for example, but probably a little more invasive if you're not used to having them, given also that children with autism in particular might not be too taken with visiting the doctor or indeed other healthcare professionals such as the dentist.Without making any recommendations or anything like that, one would assume that some kind of reformulation might be possible to 'rebrand' methly B12 to make it more palatable, either based on ... Read more »
Malhotra S, Subodh BN, Parakh P, & Lahariya S. (2013) Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency. Journal of autism and developmental disorders. PMID: 23334842
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