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  • February 22, 2014
  • 04:56 AM

Paediatric autoimmune enteropathy: I did not know that

by Paul Whiteley in Questioning Answers

Consider this post one of my 'other musings' entries on this blog and also a slightly more descriptive post than usual.The source paper today is by Singhi and colleagues* discussing the pretty rare condition paediatric autoimmune enteropathy (AIE), which I have to say was a bit of an eye-opener for me. Associated with protracted diarrhoea (sorry if your eating at the moment), weight loss and gut mucosa damage, the crux of the paper by Singhi et al seemed to be that the gut or gastrointestinal tract is a central organ affected by AIE - hence the enteropathy bit of the condition description - but also that "autoimmune enteropathy in children is a heterogeneous disease with protean clinical and pathologic findings". Protean by the way, means readily assuming different forms or characters (yes, I had to look it up).I say that this is another one of my other musings post, but one of the first people to describe this condition was one Prof. John Walker-Smith** who some people might know from the still quite contentious area of gut physiology and autism*** (see a related post here). Mention of the gluten-free (GF) diet in amongst the AIE literature also piqued my attention, allowing for the fact that such dietary intervention does not seem to help in many cases of AIE**** as it does more frequently in coeliac (celiac) disease.With my non-expert hat very firmly in place when it comes to AIE and my caveat about not giving medical or clinical advice on this blog, I was rather interested in the condition and so set about looking at some of the related literature around it to share with you. Here goes:AIE is a serious condition primarily reported in very young infants. I say serious because in quite a few of the experimental reports of AIE, mortality is, unfortunately, mentioned (see here for an example). Whilst quite a lot of the research literature is focused on AIE in children as a function of the increased likelihood of occurring infancy, there is a body of research suggesting that adults can also present with the condition*****. In some quarters, that adult presentation has been linked to refractory sprue. Boys are over-represented in AIE. Gut epithelial cell antibodies - that is an immune response to the cells lining the gut - characterise this disease. In particular, anti-enterocyte antibodies are reported to be an important part of AIE as per the link with autoimmunity. That being said, anti-goblet (the mucus producing cells) and anti-Paneth (important defender cells of the gut) cell antibodies have also been reported in cases. The autoimmunity link is certainly strong when it comes to AIE as per the varied comorbidity and other autoantibodies tied into presentation******. T-cells, and in particular Th-17 cells, which have been linked on more than one occasion to autoimmune conditions (see here), have been a focal point for the pathology of AIE*******. Indeed to quote the article by Ruemmele et al "Anti-enterocyte autoantibodies .... seem to be of a secondary nature and can no more be considered as directly disease causing".Going back to the Singhi paper, the autoimmune element to AIE has very much informed the therapeutic response to AIE and the use of various immuno-suppressing medicines. So starting with things like steroids, treatment can also include cyclosporin (see here********), tacrolimus and cyclophosphamide. Other therapeutic interventions also include anti-lymphocyte immunoglobulin and eventually in some cases, a bone marrow transplant (see here too). I did wonder, in light of the recent-ish news that alefacept - another immuno-suppressive medicine - might impact on the presentation of another autoimmune conditions, type 1 diabetes (see here), whether there may be other treatment options waiting in the wings too.I'm gonna stop at that with this very descriptive post. AIE is a complicated condition which is both heterogeneous and potentially carrying quite a bit of other autoimmune related baggage. I do get the impression from quite a few sources that in almost 30 years since formal description, some progress has been made on discovering how AIE is expressed and indeed, in treating the condition. One might say that the advent of immuno-suppressive therapeutic options being applied to AIE, has been nothing short of remarkable in terms of long-term prognosis.----------* Singhi AD. et al. Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders. Mod Pathol. 2013 Sep 20. doi: 10.1038/modpathol.2013.150.** Unsworth DJ. & Walker-Smith JA. Autoimmunity in diarrhoeal disease. J Pediatr Gastroenterol Nutr. 1985 Jun;4(3):375-80.*** Ashwood P. et al. Intestinal lymphocyte populations in children with regressive autism: evidence for extensive mucosal immunopathology. J Clin Immunol. 2003 Nov;23(6):504-17.**** Walker-Smith JA. Coeliac Disease and Autoimmune Enteropathy. Developments in Gastroenterology. 1991; 13: 131-136.***** Freeman HJ. Adult autoimmune enteropathy. World J Gastroenterol. 2008. 14(8): 1156–1158.****** Akram S. et al. Adult autoimmune enteropathy: Mayo Clinic Rochester experience. Clin Gastroenterol Hepatol. 2007 Nov;5(11):1282-90.******* Ruemmele FM. et al. Autoimmune enteropathy: molecular concepts. Curr Opin Gastroenterol. 2004 Nov;20(6):587-91.******** Sanderson IR. et al. Response to autoimmune enteropathy to cyclosporin A therapy. Gut. 1991 Nov;32(11):1421-5.----------Singhi AD, Goyal A, Davison JM, Regueiro MD, Roche RL, & Ranganathan S (2013). Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc PMID: 24051695... Read more »

Singhi AD, Goyal A, Davison JM, Regueiro MD, Roche RL, & Ranganathan S. (2013) Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. PMID: 24051695  

  • February 22, 2014
  • 12:09 AM

Prevalence and Determinants of Adherence to Highly Active Antiretroviral Therapy (HAART) amongst a Cohort of HIV Positive Women Accessing Treatment in a Tertiary Health Facility in Southern Nigeria

by JAID in JScholar Publishers

Optimal adherence to HAART amongst women living with HIV/AIDS (WLHIV) accounts for more than half of all new infections worldwide. This is particularly crucial for the success of HIV/AIDS treatment programs. In Nigeria, adherence amongst women has remained largely unexplored. This study aims to determine the prevalence and determinants of adherence to HAART amongst HIV positive non-pregnant women receiving treatment in a tertiary health facility in Cross River State, Nigeria... Read more »

Oku AO*, Owoaje ET, Oku OO, Monjok E. (2013) Prevalence and Determinants of Adherence to Highly Active Antiretroviral Therapy (HAART) amongst a Cohort of HIV Positive Women Accessing Treatment in a Tertiary Health Facility in Southern Nigeria. Journal of HIV/AIDS , 1(2), 1-7. info:/Vol 1: 202

  • February 21, 2014
  • 10:24 AM

How to Build a High-Altitude Superdog

by Elizabeth Preston in Inkfish

No need to start from scratch. Here, someone else already took a wolf and made you a perfectly serviceable sea-level dog. With some  genetic tweaking, you can craft a powerful pet that isn’t bothered by living on an oxygen-starved mountaintop. A few of the same tweaks to your DNA will even let you live there […]The post How to Build a High-Altitude Superdog appeared first on Inkfish.... Read more »

Li Y, Wu DD, Boyko AR, Wang GD, Wu SF, Irwin DM, & Zhang YP. (2014) Population variation revealed high altitude adaptation of Tibetan Mastiffs. Molecular biology and evolution. PMID: 24520091  

  • February 21, 2014
  • 02:51 AM

No Sex Please: Understanding Asexuality

by Elisabeth Buhl Thubron in United Academics

Lack of sexual interest in a highly sexualised Western society: how does that work? Interest in this topic has sky-rocketed in the past decade, yet we still know very little about it. Once thought to be a psychological or biological disorder, asexuality is slowly being accepted as a normal orientation separate from sexual orientations such as heterosexuality and homosexuality.... Read more »

Van Houdenhove E, Gijs L, T'sjoen G, & Enzlin P. (2013) Asexuality: Few Facts, Many Questions. Journal of sex . PMID: 24134401  

  • February 20, 2014
  • 04:35 PM

The Importance of a Friend

by Alexis Delanoir in How to Paint Your Panda

A post exploring the psychological and medical benefits of having strong social relationships. Meta-analysis and further studies show that beyond the obvious psychological benefits of having friends, strong social relationships also confer longevity and increased likelihood of survival in situations of risked mortality.... Read more »

  • February 20, 2014
  • 09:16 AM

Exercise as a Treatment Following Stroke

by William Yates, M.D. in Brain Posts

Exercise appears to be therapeutic in treatment of a variety of medical conditions.However, the relative magnitude of the effect of exercise is less well documented. Comparing the magnitude of the therapeutic effect of exercise with that of common drug interventions can be quite informative.Such comparisons provide insight into the relative value of exercise and the role of exercise in comprehensive treatment planning.Huseyin Naci and John Ioannidis recently published a study of the comparative effectiveness of exercise in the British Medical Journal.In this study, a meta-analysis was completed of randomized controlled trials with a primary outcome of mortality risk. Four exercise trials and twelve drug trials were examined and compared across four common diseases (drug treatment reference):Coronary heart disease (statins, beta blockers, ACE inhibitors, antiplatelet therapy)Stroke (anticoagulants, antiplatelets)Heart failure (ACE inhibitors, diuretics, beta blockers, angiotensin receptor blockers)Diabetes prevention (alpha glucosidase inhibitors, thiazolidinedones, biguanides, ACE inhibitors, glinides)The findings from this analysis are quite informative. Exercise post-stroke had the biggest comparative effectiveness compared to both anticoagulant or antiplatelet therapy. The exercise risk reduction estimate for post-stroke mortality was 91% (95% confidence interval 38% to 99%). Anticoagulants and antiplatelet therapy failed to demonstrate a statistically significant mortality reduction.Mortality risk reduction for coronary heart disease and prediabetes were modest and failed to reach statistical significance. Exercise was estimated to reduce mortality risk during follow up for heart failure by about 20%, but this effect was much less than the most effective drug treatment of diuretics (80% risk reduction).The study highlights the relative importance of exercise rehabilitation following stroke. Other current interventions have limited effects and exercise rehabilitation may currently be the most effective treatment available.Readers with more interest in this study can access the free full-text manuscript by clicking on the PMID link below.Photo of roseatted spoonbills at sunset is from the author's files.Follow the author on Twitter WRY999.Naci H, & Ioannidis JP (2013). Comparative effectiveness of exercise and drug interventions on mortality outcomes: metaepidemiological study. BMJ (Clinical research ed.), 347 PMID: 24473061... Read more »

  • February 20, 2014
  • 04:37 AM

BCKDK mutations and autism continued?

by Paul Whiteley in Questioning Answers

February 19th 2014 (yesterday). Questioning Answers celebrates 3 years of life as a blog. Happy birthday. To quote from one website: "Congratulations, you have survived the "terrible two's!"'. Maybe I should start claiming some free early education for it too?You are 3 @ Paul WhiteleyAnyhow...Cast your mind back to September 2012 and the publication of a paper by Gaia Novarino and colleagues* which I posted about (see here) discussing some interesting observations with respect to a potentially treatable form of autism.The main point of the Novarino research was how genetic mutations upset a delicate biochemical balance. Various 'inactivating' genetic mutations in respect of the BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) gene have knock-on implications for the production or rather non-production of BCKDK protein. Lower levels of this protein/enzyme left another important group of enzymes, the branched-chain keto-acid dehydrogenase complex (BCKD) to run unchecked which has implications for the metabolism and over-zealous degradation of branched-chain amino acids. The resulting lower levels of these branched-chain amino acids (BCAAs) seemed to correlate with presence of epilepsy and behavioural issues not a million miles away from those which characterise autism. Supplementation with BCAAs seemed to have a positive restorative effect on said behavioural issues. And rest.Both then and now I consider these findings to be extremely interesting. As indicated on my post at the time, they hint at both some interesting roles for various amino acids in cases of autism (see here) and provided some exquisite evidence for the plurality of autism: the autisms (see here). That they also follow a pattern of inborn errors of metabolism being potentially linked to autism was also an important point.Enter then another paper on BCKDK mutations by García-Cazorla and colleagues** found in two children presenting with "developmental delay, microcephaly and neurobehavioral abnormalities" also demonstrating the potential power of the BCAAs in affecting symptom presentation.A few details about the latest study:It was a small study looking at two children who presented with "two novel exonic BCKDK mutations, c.520C>G/p.R174G and c.1166T>C/p.L389P, [that] were identified at the homozygous state". Homozygous refers to the issue of genetic zygosity which, as the results go on to report, very much impacted on the function of BCKDK: "Mutation p.L389P showed total loss of kinase activity".Authors also confirmed how detrimental the mutations were based on analysis of "patient-derived fibroblasts" and how undetectable or barely detectable levels of BCKDK protein (the product of the BCKDK gene) resulted "in increased BCKD activity and the very rapid BCAA catabolism".They conclude that for one of the children who presented with undetectable levels of the BCKDK protein, use of a BCAA supplement "normalized plasma BCAA levels and improved growth, developmental and behavioral variables".Obviously one has to be a little careful in extrapolating these results to the wider population of autism. This is a report of specific identified cases where genetic mutations of the BCKDK gene were found and the resultant biological effect of mutation confirmed. They don't imply that supplementing willy-nilly with BCAAs will impact on all cases of autism and neither am I suggesting they will. Autisms not autism...That being said, there is another message to come from this paper on the value of keeping an open mind when it comes to look at the potential underlying genetics and biochemistry of autism. Not so long ago for example, I talked about the paper by Spilioti and colleagues (see here) on the presence of inborn errors of metabolism in their participant group diagnosed with autism. The message there was if you don't look, don't expect to find anything. Indeed, if you need some further evidence for this message I would also direct you to the work by Celestino-Soper and colleagues (see here) on another compound, carnitine, and their analysis of the gene Trimethyllysine Hydroxylase, Epsilon (TMLHE) in relation to carnitine and autism. Again, you've got to look to find or not find. And the papers keep coming***...I'm going to keep my eye out for any further information on BCKDK mutations...To close, no music link today but rather following some rather interesting conversations with my brood about winners and losers across the previous 6 films of the Star Wars saga, I vote for Darth Sidious as being the real winner... "unlimited power" and all that.----------* Novarino G. et al. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science. 2012; 338: 394-397.** García-Cazorla A. et al. Two Novel Mutations in the BCKDK Gene (Branched-Chain Keto-Acid Dehydrogenase Kinase) are Responsible of a Neurobehavioral Deficit in two Pediatric Unrelated Patients. Hum Mutat. 2014 Jan 21. doi: 10.1002/humu.22513.*** Helsmoortel C. et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nature Genetics. 2014. 16 Feb.----------García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, & Working Group (2014). Two Novel Mutations in the BCKDK Gene (Branched-Chain Keto-Acid Dehydrogenase Kinase) are Responsible of a Neurobehavioral Deficit in two Pediatric Unrelated Patients. Human mutation PMID: ... Read more »

  • February 19, 2014
  • 10:43 PM

Eating Disorders and Irritable Bowel Syndrome

by Tetyana in Science of Eating Disorders

Eating disorder patients commonly complain of gastrointestinal (GI) symptoms including bloating, abdominal pain, and constipation. This is, of course, not surprising. After all, disordered eating behaviours such as self-induced vomiting, laxative abuse, and restriction are bound to have negative effects on the digestive system.
But just how common are GI complaints and functional gastrointestinal disorders (FGIDs) like irritable bowel syndrome among ED patients? And is there more to the relationship than simply ED behaviours causing GI disturbances? Luckily, a growing number of research studies are beginning to shed some light on these questions.
In a study published in 2010, Catherine Boyd and colleagues examined the prevalence of FGIDs among ED patients admitted to a hospital Eating Disorders Unit. They found that out of the respondents (73 in total), 97% had at least one FGID (as evaluated using the Rome II questionnaire). More specifically, on admission, 73% of the participants had esophageal disorders, 32% gastroduodenal disorders, 81% had bowel disorders, and 33% experienced anorectal disorders. At 12-month follow-up, the numbers decreased to 34%, 18%, 66%, and 18%, respectively.
Overall, …

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... Read more »

  • February 19, 2014
  • 05:11 PM

Why did doctors prescribe Guinness to pregnant women?

by Stuart Farrimond in Guru: Science Blog

Back in the day when real men smoked and doctors wore white coats, prescribing beer to pregnant women was an acceptable thing to do. They don’t do that sort of thing anymore. But for many people, the question of the […]The post Why did doctors prescribe Guinness to pregnant women? appeared first on Guru Magazine.... Read more »

  • February 18, 2014
  • 05:54 PM

All eyes on bioprinting

by Isabel Torres in Science in the clouds

3D printing is in fashion. Clothes, prosthetic limbs, guns and even pizza, you name it—just about anything can be printed these days. Even living cells.Bioprinting is an emerging technology that promises to revolutionise the field of regenerative medicine. The idea is simple: you load a printer cartridge with cells removed from a patient or grown in the lab, and then print a brand new tissue or organ ready for transplantation. Alternatively, you could print healthy tissue directly onto a patient’s wound in the operating room. For now, scientists and biotech companies have managed to print several cell types, and there has been some progress in making cartilage, skin and heart muscle tissue. Printed tissues like these could be invaluable for drug testing in preclinical studies and for regenerative medicine. Imagine if we could replace damaged brain tissue in people suffering from neurodegenerative diseases like Alzheimers, or treat blindness with transplanted eye tissue. But how does bioprinting work?By a lucky coincidence, the size of the nozzles of inkjet printers is roughly the same of an average animal cell, so scientists can use or adapt commercial printers for bioprinting. Just like a conventional 3D printer, which creates objects by laying down liquefied material (like plastic, metal or even chocolate) in layers, bioprinters work by spitting out cell after cell onto a surface to, in theory, build a 3D-shaped living tissue. But there is a caveat. Some cells are not happy to be squeezed through a printhead, like neural cells for example, which have a limited ability to survive and grow in culture. Now, researchers from the University of Cambridge (UK) report that they have successfully printed two types of rat neural cells from the retina, the light-sensitive tissue at the back of the eye: ganglion cells, which transmit visual information to the brain, and glial cells, which insulate, support, protect and feed neurons.Barbara Lorber and colleagues pushed a gel containing the cells through a piezoelectric inkjet printer and then tried to grow them in culture to test their survival rate. Piezoelectric printers are not commonly used for bioprinting because they use an electrical pulse to eject the ink drops and this was thought to break cell membranes. But this is not what the team found. The large majority of printed ganglion and glial cells were able to survive and grow in culture. They also seemed to retain their function—glial cells released growth-promoting molecules, and in turn ganglion cells responded to these signals by growing more of the tiny processes that carry messages to neurons. Normal.dotm 0 0 1 439 2505 MRC - Cambridge 20 5 3076 12.0 0 false 18 pt 18 pt 0 0 false false false /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:12.0pt; font-family:"Times New Roman"; mso-ascii-font-family:Cambria; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Cambria; mso-hansi-theme-font:minor-latin; mso-ansi-language:EN-US;} In recent years, stem cells transplants and electronic retina implants were shown to partially restore sight in patients with retinal degeneration, but these improvements were modest. Although preliminary, the new results by the Cambridge team provide the proof-of-principle that the production of functional retinal tissue by bioprinting could one day become a reality.Reference:Lorber B., Hsiao W.K., Hutchings I.M. & Martin K.R. (2014). Adult rat retinal ganglion cells and glia can be printed by piezoelectric inkjet printing, Biofabrication, 6 (1) 015001. DOI: 10.1088/1758-5082/6/1/015001This article was published in Lab Times on the 10-02-2014 (print). Image credit: namida K/Everystockphoto... Read more »

  • February 18, 2014
  • 04:02 AM

HLA alleles and specific language impairment

by Paul Whiteley in Questioning Answers

I've talked about the [almighty] major histocompatibility complex (MHC) before on this blog (see here). The important duties that this biological system performs in relation to identification and communication insofar as antigen presentation and importantly, the process of differentiation between 'self' and 'non-self' from an immunological perspective, are not to be sniffed at.Harold? @ WikipediaI've found myself quite interested in all things MHC (also referring to the human leukocyte antigen, HLA, genes) from quite a few different perspectives. Be it with reference to the genetics of coeliac (celiac) disease (see here) or the very preliminary work being discussed on HERVs [human endogenous retroviruses], or rather HERV proteins, as being possible superantigens in relation to a condition such as myalgic encephalomyelitis (ME) (see here), there's lots to think about when it comes to the MHC.So when I stumbled across the paper by Ron Nudel and colleagues [1] (open-access here) talking about "a possible role for HLA loci in language disorders" my attention was piqued. Before progressing into some of the details behind the Nudel paper, it's important to note the authorship team involved in this research paper. Alongside some quite well-known names attached to autism research (see here and see here for example), I was also interested to see Gillie Baird as one of the research team. Prof. Baird has impressed me in recent times; not only with her research involvement looking into the whole functional bowel issues in autism research (see here) but also with that recent 'leaky gut' paper with autism in mind (see here) which despite some methodological 'issues' gave me cause to smile that this area was at last starting to be taken seriously in more orthodox circles. Who knows, one day even the NICE guidance might recognise it as a potentially important comorbidity?No mind, a few details from the Nudel paper are noteworthy, accepting that the paper is open-access:This was a multi-centre study looking at "the possible involvement of HLA loci in SLI [specific language impairment]". Loci by the way, is the plural of locus, and with genes in mind, refers to specific locations on a gene, DNA sequence or chromosome; a sort of area or postcode if you will. Participants were mostly derived from the SLIC (SLI consortium) groups with additional families included. All were assessed as having a SLI; all did not have autism, but some had comorbid features of ADHD and/or dyslexia. A control group was also included for some of the analyses.OK here's where is starts to get a little bit complicated. I found quite a nice website talking about the ways and means that HLA genes are indexed in terms of nomenclature. The complexity of the HLA genes and their molecules derives from the fact that HLA genes are highly polymorphic (see here). Regular readers might have heard me talk about SNPs (Single Nucleotide Polymorphisms) before reflecting single changes to the genetic alphabet. In the case of HLA genes it gets a little more complex (see here) and, as such, specific terminology has been introduced. I'll also draw your attention the description of an allele too (see here). So, first researchers went looking for SNPs "across the HLA [genetic] region". Further, they then imputed HLA type from the SNP data to see if there was any connection between HLA type(s) and SLI or the specific parts of SLI from a psychometric point of view.Results: The HLA-A locus seemed to show a possible connection for "susceptibility to SLI". The A1 allele (HLA-A A1) in particular came out as the "most highly positively correlated allele". When it came to looking at SLI cases vs. controls, the "DR10 allele of HLA-DRB1 was more frequent in individuals with SLI than population controls". There are some other findings reported in terms of parental inheritance patterns but I'm going to leave those for now.The authors conclude that their preliminary data requires further study but: "provide an intriguing link to those described by previous studies of other neurodevelopmental disorders suggesting a possible role for HLA loci in language disorders".I'm sure you can see why I was so interested in this paper. The bigger picture of the HLA (MHC if you prefer) being potentially implicated in something other than just immune function and all those 'self' and 'non-self' duties, opens up a whole new world of research. Given also my increasing interest in all things autoimmunity with an autism research slant, I'm minded to suggest that this may go some much further than anyone ever suspected [2]. That being said I would direct readers to the graphs showing the frequencies of alleles across the different HLA genes to see how aside from the HLA-DRB1 DR10 allele, this is more of a 'shades of grey' over and above 'there or not' pattern of findings when comparing SLI and non-SLI groups.Looking back at some of the quite limited autism research in this area, I did find some clues that HLA involvement in SLI should perhaps not be totally unexpected as a function of the potential overlap between autism and SLI [3]. I say this acknowledging the debates are still on-going about the links or not between the two conditions and also that Nudel and colleagues ruled out autism as a diagnosis in their particular cohort. As an aside, readers might also find a recent post by Dorothy Bishop of interest, and in particular her model C for language development.HLA alleles and autism? Well, you might say this is an emerging area in light of results like those from Mostafa and colleagues [4]. I dare say there may be other HLA overlap with other findings from autism research (see the open-access review from Torres and colleagues [5] for further reading). More recently I also stumbled across the paper by Al-Hakbany and colleagues [6] (open-access) which continued discussions about overlapping alleles (I'll probably formulate a separate post on that research soon).The late Reed Warren also talked about the null allele of C4B... Read more »

Nudel R, Simpson NH, Baird G, O Hare A, Conti-Ramsden G, Bolton PF, Hennessy ER, Monaco AP, Knight JC, Winney B.... (2014) Associations of HLA alleles with specific language impairment. Journal of neurodevelopmental disorders, 6(1), 1. PMID: 24433325  

  • February 17, 2014
  • 11:56 AM

Antioxidants and cancer – The case of vitamin C (3)

by Aurelie in Coffee break Science

Vitamin C: the antioxidant with beneficial pro-oxidant effects? To continue on the subject of antioxidants and cancer, I will now turn to the particular case of vitamin C. A recent study, also published in Science Translational medicine, suggests that high … Continue reading →... Read more »

  • February 17, 2014
  • 08:02 AM

Acute Brain Response to Exercise in Healthy Young Adults

by William Yates, M.D. in Brain Posts

This month I have been reviewing recent research on the effects of exercise on the brain.Exercise appears to have both acute and chronic effects on brain physiology and function. Newer imaging techniques provide sensitive tools to study exercise and the brain.Bradley Macintosh and colleagues recently paired an aerobic exercise task with measurements of cerebral blood flow and blood oxygen utilization.The key elements of the design of their experiment included the following elements:Subjects: Sixteen healthy adults (ten women and six men) between the ages of 20 and 35 years of ageExercise task: 25 minutes of exercise on a recumbent bike with 20 minutes at 70% of estimated maximum heart rateImaging protocol: Subjects had brain imaging studies before exercise and 10 and 40 minutes following exercise using cerebral blood flow and functional magnetic resonance imaging using a sustained attention task.Statistical analysis: Paired t-tests on behavioral and imaging data were use to compare baseline and post-exercise performanceThe analysis found specific region variations in the brain following exercise. The main findings from the study included:Cerebral blood flow: Gray matter cerebral blood flow decreased at 10 minutes after exercise while white matter cerebral blood flow increased at 40 minutes compared to baseline. The brain hippocampus and insula showed significant reduction in perfusion post-exercise. The left medial postcentral gyrus brain region demonstrated a reverse trend with increased perfusion post-exercise.BOLD MRI: Most brain regions showed no BOLD response changes with exercise. However, a region of the left parietal lobe known as the operculum had reduced BOLD activation following exercise.Cognitive Testing: Subjects showed no differences in measures of attention including error rates and reaction time.The authors concluded that there are acute cerebral blood flow effects on the brain with exercise without significant brain activation changes. They note these cerebral blood flow changes may contribute to a neuroplasticity effect for exercise.They also noted the increased white matter perfusion with exercise may contribute to improvements in white matter integrity. Previous studies of chronic exercise have noted improved white matter connectivity.This is an important study documenting the acute brain response to exercise. Aerobic exercise seems to provide for a brain work out as well as a cardiovascular and musculoskeletal work out.Readers with more interest in this study can access the free full-text manuscript by clicking on the PMID link in the citation below.Photo of a bottlenose dolphin off Fulton, TX is from the author's files.Follow the author on Twitter at WRY999.Macintosh BJ, Crane DE, Sage MD, Rajab AS, Donahue MJ, McIlroy WE, & Middleton LE (2014). Impact of a single bout of aerobic exercise on regional brain perfusion and activation responses in healthy young adults. PloS one, 9 (1) PMID: 24416356... Read more »

  • February 17, 2014
  • 07:13 AM

Parent talk and child language

by Dorothy Bishop in bishopblog

Several studies have reported associations between the amount parents talk to their infants and subsequent language development. It is almost always assumed that this reflects a causal relationship and that children's language outcomes can be improved by encouraging parents to talk more to their babies and toddlers.
I argue here that other reasons for the association need to be considered. In particular, there is ample evidence that the association may in part reflect shared genetic risks for language impairment in parents and their children. This view does not entail that we can do nothing about children's problems, but it does suggest that simply getting parents to talk more may not be the answer.... Read more »

  • February 16, 2014
  • 06:13 PM

Does not support an association...

by Paul Whiteley in Questioning Answers

I want to briefly draw your attention to the paper by Fernando Navarro and colleagues* which concluded: "Our study although underpowered to show small differences does not support an association between dietary gluten/milk, IP [intestinal permeability], and behavioral changes in subjects with ASD". At the moment, I'm only blogging based on the study abstract so I'm gonna keep things quite brief and will post again when I have the full-text. BTW we had heard that this study was coming as far back as 2008 (see here for some media).Anyone who knows me and my interest in all-things autism spectrum conditions would probably understand my degree of disappointment in the above statement from the study. Whilst having great faith in the principles of science and the scientific method, it's always a little bit difficult to digest results which cast doubt on something which you've put quite a few weeks/months/years examining (see here) particularly when published in the same journal that you have (see here and see here). But I do feel it's important to blog about the Navarro findings so as to remain impartial and objective and show that there are two sides to every science story.The Novarro study, utilising the gold-standard randomised double-blind placebo controlled study design, looked at two elements which have cropped up with some frequency over the past few years when it comes to autism: (1) that removal of foods containing gluten and/or casein may impact on the presentation of some cases of autism (see here) and (2) leaky gut or rather intestinal hyperpermeability may be one reason why said dietary components seem to show some effect on cases of autism (see here).Based on quite a short study duration (4 weeks) it appears that: "Neither the L/M ratio [lactoluse:mannitol ratio] nor behavioral scores were different between groups exposed to gluten/dairy or placebo. The changes observed were noted to be small and not clinically significant". I could start savaging the short study duration or what I think was the relatively small participant group included or the reliance on "the Aberrant Behavior Checklist and Conners Parent Rating [Scale]" but sour grapes don't make for good science. Indeed, I need to reiterate that this was a gold-standard trial in terms of methodology... This is also not the first time that the gluten- and casein-free (GFCF) diet for autism has fallen at the experimental stage as per the results reported by Elder and colleagues** under similar experimental conditions. I'm not going to say much more than what I have already at this stage. I'm sure various opinions will be voiced about this study depending to some degree, on one's perspective on dietary intervention for autism and well, that's fair enough.----------* Navarro F. et al. Are ‘leaky gut’ and behavior associated with gluten and dairy containing diet in children with autism spectrum disorders? Nutr Neurosci [Advance Article] DOI: 10.1179/1476830514Y.0000000110** Whiteley P. et al. The ScanBrit randomised, controlled, single-blind study of a gluten- and casein-free dietary intervention for children with autism spectrum disorders. Nutr Neurosci. 2010 Apr;13(2):87-100.*** Pedersen L. et al. Data mining the ScanBrit study of a gluten- and casein-free dietary intervention for children with autism spectrum disorders: Behavioural and psychometric measures of dietary response. Nutr Neurosci. 2013 Sep 7. [Epub ahead of print]**** Elder JH. et al. The gluten-free, casein-free diet in autism: results of a preliminary double blind clinical trial. J Autism Dev Disord. 2006 Apr;36(3):413-20.----------Fernando Navarro, Deborah A Pearson, Nicole Fatheree, Rosleen Mansour, S Shahrukh Hashmi, & J Marc Rhoads (2014). Are ‘leaky gut’ and behavior associated with gluten and dairy containing diet in children with autism spectrum disorders? Nutritional Neuroscience DOI: 10.1179/1476830514Y.0000000110... Read more »

  • February 15, 2014
  • 12:03 PM

Gluten-free diet, immune response and autism?

by Paul Whiteley in Questioning Answers

I was heartened to see the publication of the paper by Giacomo Caio and colleagues* (open-access version available here) discussing how the use of a gluten-free diet has a pretty obvious effect on the presence of IgG anti-gliadin antibodies in cases of non-coeliac gluten sensitivity (NCGS). To quote from the Caio paper: "Anti-gliadin antibodies [AGA] of the IgG class disappear in patients with non-celiac gluten sensitivity reflecting a strict compliance to the gluten-free diet and a good clinical response to gluten withdrawal". NCGS is a real interest of mine and for any UK pharmacists out there, you can access an article I helped write about it not so long ago (see here).For those who might need a little background, antibodies to something like gliadin (part of the protein gluten derived from various cereal produce) represent the ever-vigilant immune system labelling gluten as 'foreign' and taking appropriate biological action. You might say, well gluten is foreign (as opposed to self i.e. the body) and so should be immune labelled in such a way. But if this were the case then everyone would be mounting an immune response to gluten and well, then we probably wouldn't be consuming it in the first place.Also have a think about it... how does the immune system come into contact with something like gliadin in the first place? We eat foods containing gluten and after some chopping up by various enzymes in that long dark corridor we call the gastrointestinal (GI) tract, we are supposed to derive nutrition from such feasts. Gluten and other proteins/peptides should in the most part be confined to the GI tract and hence not meeting immune function aside from the odd brush with the various mucus membranes in the GI tract. So, why does the immune system start to recognise said proteins and mount a response to them via the production of antibodies in some people? I'll come back to this question shortly.Anyhow, extrapolating the Caio results to instances where IgG antibodies to gliadin have been reported in the scientific literature, we end up with some intriguing suggestions when it comes to cases of autism. Indeed, we also arrive at some interesting work in other behaviourally defined conditions including schizophrenia (see here) but I'm gonna leave that side of things for now.The finding by Caio that "AGA IgG persisted positive only in 3 (6.8 %) out of the 44 NCGS patients tested after 6 months of gluten withdrawal" to me suggests something really rather important when one takes on board the AGA findings reported in cases of autism by Lau and colleagues** and de Magistris and colleagues***. Not only does it suggest that some cases of autism might fall into that NCGS category but also that there is appropriate justification to implement a gluten-free diet in order to reduce that immunological load towards gliadin. That is, if one is to ensure that a label of autism does not equate to health inequality in this area...There is another interesting detail within the Caio paper with regards to their comparisons to participants who presented with the more classical gluten-related condition, coeliac (celiac) disease insofar as those with NCGS and their intestinal presentation. Another quote: "Small intestinal biopsy, tested in all of them on a gluten-containing diet, showed either a normal mucosa (Marsh 0) (n = 26) (58 %) or mild abnormalities (n = 18) (42 %), with an increased number of intra-epithelial lymphocytes (Marsh 1)". If you click on the link above to a mega-post I wrote on 'what is coeliac disease' you'll get a flavour for what the Marsh criteria are. What the Caio results suggest is that the characteristic mucosal findings normally related to a diagnosis of coeliac disease were not present in the NCGS group, which interestingly enough was also similar to the findings from Ludvigsson and colleagues**** in cases of autism which I talked about in a previous post (see here). Perhaps even more evidence that some autism might fit into that NCGS category?Going back to that question of what makes the immune system react to gliadin in some people and not others, well, again I'm leaning towards some possible effect from issues like gut hyperpermeability (the so-called leaky gut) as being one possible mechanism. I'll direct readers back to another of my mega-posts on all-things leaky gut and autism for some further details about this (see here) but as yet, I can't for sure provide you with details of a specific biological mechanism of effect outside of the present generalisations.Still, I'll reiterate that the Caio findings are potentially very important to research examining the link between some cases of autism and dietary components like gluten (or gliadin) and certainly add to the speculation that NCGS may be a valid clinical entity for some on the spectrum.----------* Caio G. et al. Effect of gluten free diet on immune response to gliadin in patients with non-celiac gluten sensitivity. BMC Gastroenterol. 2014 Feb 13;14(1):26.** Lau NM. et al. Markers of Celiac Disease and Gluten Sensitivity in Children with Autism. PLoS One. 2013 Jun 18;8(6):e66155.*** de Magistris L. et al. Antibodies against food antigens in patients with autistic spectrum disorders. Biomed Res Int. 2013;2013:729349.**** Ludvigsson JF. et al. A nationwide study of the association between celiac disease and the risk of autistic spectrum disorders. JAMA Psychiatry. 2013 Nov;70(11):1224-30.------------Caio G, Volta U, Tovoli F, & De Giorgio R (2014). Effect of gluten free diet on immune response to gliadin in patients with non-celiac gluten sensitivity. BMC gastroenterology, 14 (1) PMID: 24524388... Read more »

  • February 14, 2014
  • 08:11 AM

Is It Possible To Have Excess Weight And Still Be Healthy?

by Jalees Rehman in The Next Regeneration

Is it possible to be overweight or obese and still be considered healthy? Most physicians advise their patients who are overweight or obese to lose weight because excess weight is a known risk factor for severe chronic diseases such as diabetes, high blood pressure or cardiovascular disease. However, in recent years, a controversy has arisen regarding the actual impact of increased weight on an individual’s life expectancy or risk of suffering from heart attacks. Some researchers argue that being overweight (body mass index between 25 and 30; calculate your body mass index here) or obese (body mass index greater than 30) primarily affects one’s metabolic health and it is the prolonged exposure to metabolic problems that in turn lead to cardiovascular disease or death.
... Read more »

  • February 14, 2014
  • 08:07 AM

More evidence that red wine and aspirin protect against cancer

by Stephanie Swift in mmmbitesizescience

Cancer is a disease of genes. DNA mutations mess with the genetic content of a cell, enabling it to escape the normal controls that restrict their growth. Now, a team of scientists led by Delphine Lissa and Guido Kroemer at … Continue reading →... Read more »

Lissaa, D., Senovillaa, L., Rello-Varona, S., Vitalee, I., Michauda, M., Pietrocola, F., Boilèvea, A., Obrist, F., Bordenave, C, Garcia, P.... (2014) Resveratrol and aspirin eliminate tetraploid cells for anticancer chemoprevention. PNAS. DOI: 10.1073/pnas.1318440111  

  • February 13, 2014
  • 02:11 PM

Creativity in Older Adults: Learning Digital Photography Improves Cognitive Function

by Jalees Rehman in Fragments of Truth

The recent study "The Impact of Sustained Engagement on Cognitive Function in Older Adults: The Synapse Project" published in the journal Psychological Science by the psychology researcher Denise Park and her colleagues at the University of Texas at Dallas is an example of an extremely well-designed study which attempts to tease out the benefits of participating in a structured activity versus receiving formal education and acquiring new skills. The researchers assigned subjects with a mean age of 72 years (259 participants were enrolled, but only 221 subjects completed the whole study) to participate in 14-week program in one of five intervention groups: 1) learning digital photography, 2) learning how to make quilts, 3) learning both digital photography and quilting (half of the time spent in each program), 4) a "social condition" in which the members participated in a social club involving activities such as cooking, playing games, watching movies, reminiscing, going on regular field trips but without the acquisition of any specific new skills or 5) a "placebo condition" in which participants were provided with documentaries, informative magazines, word games and puzzles, classical-music CDs and asked to perform and log at least 15 hours a week of such activities. None of the participants carried a diagnosis of dementia and they were novices to the areas of digital photography or quilting. Upon subsequent review of the activities in each of the five intervention groups, it turned out that each group spent an average of about 16-18 hours per week in the aforementioned activities, without any significant difference between the groups. Lastly, a sixth group of participants was not enrolled in any specific program but merely asked to keep a log of their activities and used as a no-intervention control.... Read more »

Park DC, Lodi-Smith J, Drew L, Haber S, Hebrank A, Bischof GN, & Aamodt W. (2014) The impact of sustained engagement on cognitive function in older adults: the synapse project. Psychological science, 25(1), 103-12. PMID: 24214244  

  • February 13, 2014
  • 11:00 AM

Neury Thursday: Genotypic Insights on Dopamine, Modafinil, and Sleep

by Allison in Dormivigilia

A recent study in the Journal of Neuroscience uncovers genetic sensitivity to drugs that increase dopamine concentrations and their subsequent effects on sleep in humans. These studies raise important concerns for primary care practitioners when prescribing meds. ... Read more »

Holst SC, Bersagliere A, Bachmann V, Berger W, Achermann P, & Landolt HP. (2014) Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. The Journal of neuroscience : the official journal of the Society for Neuroscience, 34(2), 566-73. PMID: 24403155  

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