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  • February 3, 2016
  • 11:30 AM

The RAD-57 – Still Unsafe?

by Rogue Medic in Rogue Medic

I decided to look for something I wrote that I have been wrong about. I thought about Masimo and their RAD-57. I had been very critical of Dr. Michael O’Reilly (then Executive Vice President of Masimo Corporation) for being an advocate of bad science, but he has been hired away by Apple.[1] He should be less dangerous with a telephone than he was with the RAD-57. At the time, he wrote –... Read more »

  • February 3, 2016
  • 04:30 AM

Aiming for the STARS for Chronic Ankle Instability

by Nicole Cattano in Sports Medicine Research (SMR): In the Lab & In the Field

Sensory-targeted rehabilitation strategies (STARS) result in improvements in patient-reported and clinical outcomes. Certain deficits may be specifically targeted by different techniques.... Read more »

  • February 3, 2016
  • 04:29 AM

Estimated autism rate in 2 regions of Poland

by Paul Whiteley in Questioning Answers

"The average prevalence of ASD [autism spectrum disorder] was 35/10 000 children and was about 4-fold higher in males."I don't have too much to add to the findings reported by Karolina Skonieczna-Żydecka and colleagues [1] who estimated the prevalence of ASD in two regions of Poland: "West Pomeranian and Pomeranian regions." Based on the analysis of data from "Provincial Disability Services Commissions", researchers concluded that approximately 3 children in 1000 in those regions have a diagnosis on the autism spectrum. As always: "More studies are necessary."Accepting that there may true geographical variations in the rate of autism around the globe [2] (including effects potentially related to factors such as migration for example), these figures are surprisingly conservative compared with what has been mentioned in other parts of the world in recent times (see here). Yes, one could eventually look at issues around the identification and diagnosis of autism (including translation of the appropriate screening and assessment instruments), what criteria you use to define autism, the potential effect(s) of service availability and delivery following a diagnosis and specific cultural factors to account for the low estimates, but at the moment we can only go with the data that is available. Indeed, this is not the first time that I've talked about other geographic areas also reporting a low prevalence of autism and the possible factors around that example (see here).I do expect to see the autism prevalence estimates increase in Poland as more detailed study is done such as that actually going looking for those who possibly fall on the autism spectrum (see here) rather than relying on more passive methods of reporting. As per previous peer-reviewed research coming out of Poland [3], fulfilling the criteria for autism and actually receiving a diagnosis are not necessarily one and the same for whatever reason(s).But again, we can only go with the available data...Music: Frank Sinatra - Come Fly With Me.----------[1] Skonieczna-Żydecka K. et al. The Prevalence of Autism Spectrum Disorders in West Pomeranian and Pomeranian Regions of Poland. J Appl Res Intellect Disabil. 2016 Jan 14.[2] Fombonne E. et al. Prevalence of Autism Spectrum Disorders in Guanajuato, Mexico: The Leon survey. J Autism Dev Disord. 2016 Jan 21.[3] Wolańczyk T. et al. Features of autism, autistic traits, autism: retrospective analysis of clinical symptoms in children treated in the Pediatric Psychiatric Clinic. Psychiatr Pol. 2001 Jan-Feb;35(1):59-69.----------Skonieczna-Żydecka K, Gorzkowska I, Pierzak-Sominka J, & Adler G (2016). The Prevalence of Autism Spectrum Disorders in West Pomeranian and Pomeranian Regions of Poland. Journal of applied research in intellectual disabilities : JARID PMID: 26771078... Read more »

Skonieczna-Żydecka K, Gorzkowska I, Pierzak-Sominka J, & Adler G. (2016) The Prevalence of Autism Spectrum Disorders in West Pomeranian and Pomeranian Regions of Poland. Journal of applied research in intellectual disabilities : JARID. PMID: 26771078  

  • February 2, 2016
  • 05:20 PM

How Not to Get Killed by a Cow

by Elizabeth Preston in Inkfish

Between 1993 and 2015, cattle killed 13 people who were out for walks in the United Kingdom. Dozens more walkers received broken bones or other injuries from the animals.

Murderous cattle are an understudied phenomenon, say veterinarian Angharad Fraser-Williams and other researchers at the University of Liverpool in the United Kingdom. So they scoured news articles and scientific literature to learn about cattle attacks over two decades. They turned up some advice for people wishing to av... Read more »

Fraser-Williams, A., McIntyre, K., & Westgarth, C. (2016) Are cattle dangerous to walkers? A scoping review. Injury Prevention. DOI: 10.1136/injuryprev-2015-041784  

  • February 2, 2016
  • 03:03 PM

Depressed or inflamed? Inflammation attacks brain’s reward center

by Dr. Jekyll in Lunatic Laboratories

Inflammation is a good thing, it helps the body fight disease, and without it we wouldn't survive. Unfortunately, when inflammation isn't kept under control it can wreak havoc on the body. From potentially causing alzheimer's to arthritis it seems that unchecked inflammation can cause all sorts of issues. In fact, a new study adds to the list of issues out of control inflammation causes in the body.

... Read more »

  • February 2, 2016
  • 04:29 AM

Risk of cancer in autism: probably not excessive as more data emerge

by Paul Whiteley in Questioning Answers

A quote to begin: "Taken together, there are no published evidence to suggest that there is a high overall concordance between ASD [autism spectrum disorders] and cancer or between ASD and specific cancers."Those words reported by Svend Erik Mouridsen and colleagues [1] (who knows a thing or two about autism research) should offer some relief to both people on the autism spectrum and their loved ones.Based on the analysis of over 100 adults "diagnosed with infantile autism (IA) in childhood" compared with over 330 asymptomatic (not-autism) controls in Denmark, researchers found that 8 adults (6.8%) with autism has registered at least one cancer diagnosis and 17 people (5.1%) of the comparison group the same over a 30+ year period. The authors suggest that although there was no statistically significant increased risk in their cohort of people with autism "it is important to recognize that adults with IA [infantile autism] are at similar risk for these diseases." Once again, a diagnosis of autism is seemingly protective against nothing when it comes to other diseases/conditions/labels appearing.Although to some degree reassuring about the excess risk of cancer in cases of autism, I am minded to bring in a previous post I wrote on this topic (see here) based on some important work coming out of the research powerhouse that is Taiwan [2]. Based on a considerably larger participant sample (~8400 people diagnosed with autism), the numbers of those with autism developing cancer were equally small to that of Mouridsen but greater than generally expected. The excess cancer risk on that occasion seemed to be specifically linked to being male and also covered a younger age group. I say this accepting that cancer risk with autism in mind might not be the same the world over.The currently available peer-reviewed research literature in this population does not seem to indicate any wildly significantly greater risk of cancer as a function of being diagnosed on the autism spectrum. What it does suggest is that outside of specific overlap between cancer genes and so-called autism genes (see here) is that people with autism need to be screened the same way everyone else is for their risk of cancer save any health inequalities emerging, particularly as the population ages and eyes start to turn towards ageing and autism (see here). I might also add that if there is certain psychiatric comorbidity attached to a diagnosis of autism, one may need to be mindful that this could potentially impact on mortality rates (see here) and therefore adjust care accordingly.----------[1] Mouridsen SE. et al. Risk of cancer in adult people diagnosed with infantile autism in childhood: A longitudinal case control study based on hospital discharge diagnoses. Research in Autism Spectrum Disorders. 2016; 23: 203-209.[2] Chiang H-L. et al. Risk of Cancer in Children, Adolescents, and Young Adults with Autistic Disorder. J Pediatrics. 2014. 18 November.----------Mouridsen, S., Rich, B., & Isager, T. (2016). Risk of cancer in adult people diagnosed with infantile autism in childhood: A longitudinal case control study based on hospital discharge diagnoses Research in Autism Spectrum Disorders, 23, 203-209 DOI: 10.1016/j.rasd.2015.12.010... Read more »

  • February 1, 2016
  • 03:41 PM

Blood pressure medicine may improve conversational skills of individuals with autism

by Dr. Jekyll in Lunatic Laboratories

An estimated 1 in 68 children in the United States has autism. The neurodevelopmental disorder, which impairs communication and social interaction skills, can be treated with medications and behavioral therapies, though there is no cure. Now, University of Missouri researchers have found that a medication commonly used to treat high blood pressure and irregular heartbeats may have the potential to improve some social functions of individuals with autism.

... Read more »

  • February 1, 2016
  • 04:30 AM

Should We Check the Checking Age in Youth Ice Hockey?

by Jane McDevitt in Sports Medicine Research (SMR): In the Lab & In the Field

Concussion rates in youth ice hockey are nearly 3 times higher during games compared to practice, and 12 to 14 year olds have higher incidence rates compared to 15 to 18 year olds.... Read more »

Kontos, A., Elbin, R., Sufrinko, A., Dakan, S., Bookwalter, K., Price, A., Meehan, W., & Collins, M. (2016) Incidence of Concussion in Youth Ice Hockey Players. PEDIATRICS. DOI: 10.1542/peds.2015-1633  

  • February 1, 2016
  • 02:47 AM

On (pre)pregnancy obesity and inflammation and offspring autism risk

by Paul Whiteley in Questioning Answers

At the time of writing this [long read] post there has been a flurry of autism research articles making news.The headline: 'Scientists create the first ever autistic monkeys' referring to the work published by Liu and colleagues [1] who reported on "lentivirus-based transgenic cynomolgus monkeys (Macaca fascicularis) expressing human MeCP2 in the brain exhibit autism-like behaviours and show germline transmission of the transgene" started the ball rolling. Anyone who knows a little bit about autism will realise that mutations in the MeCP2 gene generally refers to Rett syndrome. Whilst linked to the expression of certain autistic-like behaviours, Rett syndrome is but one part of the very heterogeneous spectrum called autism. I'd also suggest that other primate research had previously 'modelled' autism, or at least, certain facets of autism (see here).Next up was the headline: 'Autism Diets: Can Nutrition Have An Impact On Autism Risk?' portraying the findings reported by Xie and colleagues [2] (open-access) who talked about inborn errors of carnitine metabolism potentially being linked to some autism. This follows some important research history in this area (see here) specifically linked to a gene called trimethyllysine hydroxylase, epsilon (TMLHE) (see here). Inborn errors of metabolism potentially linked to autism (some autism) is a woefully under-researched and under-screened area (see here).And then we have two papers that make up the core of today's post. The first by Mengying Li and colleagues [3] continues something of an important theme in autism research circles these days on how mum's weight and risk of diabetes during pregnancy might have a bearing on offspring development [4], and specifically the risk of autism and comorbid learning disability. This time around researchers "examined the independent and combined effects of maternal prepregnancy obesity and maternal diabetes on the risk of autism spectrum disorder (ASD) in parallel with other developmental disorders (DDs)." They did this by analysing data - "a subset of the Boston Birth Cohort who completed at least 1 postnatal study visit at Boston Medical Center between 1998 and 2014" - and comparing rates of autism ("based on physician diagnoses as documented in electronic medical records") and other diagnoses "among 6 groups defined by maternal prepregnancy obesity and diabetes status." They found that yes, those mums who were obese and presented with pregestational diabetes (PGDM) had a [significantly] increased risk of offspring autism as were those with both obesity and gestational diabetes. Interestingly: "This pattern of risk was mostly accounted for by cases with co-occurring ASD and ID."Before heading further into the potential whys and wherefores to account for the Li results, I want to bring in another paper making news. Gloria Choi and colleagues [5] report results that have created headlines such as: 'Autism caused by immune response to viral infection during pregnancy?' Accepting that again, the use of the singular term 'autism' in that media piece does little to accentuate the degree of diversity that the label includes and the various 'routes' that might bring someone to a diagnosis (see here for example), I found this to be an interesting paper.Building on the idea that viral infection during pregnancy might be able to affect offspring risk of autism or other behavioural outcomes (see here), researchers set about looking at some of the possible mechanisms involved in this process. The work of the late Paul Patterson (see here) gets a mention in the Choi study write-up and the concept of maternal immune activation (MIA). Pregnant mice were initially artificially 'immune stimulated' and offspring were found to display the sorts of behaviours that had previously been mentioned in the science literature in this area. Researchers then took out some key elements of the cells involved in the inflammatory response to immune activation - specifically Th17 cells - and repeated the artificial immune activation procedure. Offspring mice did not appear to show the same behavioural issues as those whose mother mice possessed their Th17 cells intact. Further, when pregnant mother mice were given an antibody that blocks interleukin-17 (IL-17) (produced by Th17 cells), offspring mice also showed behavioural differences compared with those offspring whose mother mice received immune stimulation but nothing else. Ergo, the suggestion that: "therapeutic targeting of TH17 cells in susceptible pregnant mothers may reduce the likelihood of bearing children with inflammation-induced ASD-like phenotypes." The idea of an 'inflammation-induced autism phenotype' by the way is not a new one (see here).Whilst remembering that mice are mice (and monkeys are monkeys) and so not necessarily able to model all of the complexity of human autism (and its important comorbidities), these are potentially important findings. I've covered the idea that immune function and inflammatory processes might be part and parcel of some autism previously on this blog (see here for example) as part of a larger shift in psychiatry circles (see here). Indeed, some of that research has specifically talked about IL-17 and at least some autism (see here for example) and the idea that levels might be increased compared to other groups. Insofar as the notion of blocking the effects of IL-17 (or Th17), I'm minded to suggest that we need a lot more data first before specific interventions are discussed or attempted including looking at compounds linked to the maturation of Th17 cells [6] as possible targets.What the Li and Choi papers share in common are several variables. First is the idea that 'the nine months that made us' might indeed be an important time insofar as future behavioural outcome. Indeed the Li results also suggest that what happens prepregnancy might also exert a significant effect. Second is the notion that inflammation (or response to inflammation) in-utero might be an important concept for at least some 'types' of autism and indeed other future diagnoses (see here). If you're wondering what obesity might have to do with inflammation, well, let's just say that qu... Read more »

Li, M., Fallin, M., Riley, A., Landa, R., Walker, S., Silverstein, M., Caruso, D., Pearson, C., Kiang, S., Dahm, J.... (2016) The Association of Maternal Obesity and Diabetes With Autism and Other Developmental Disabilities. PEDIATRICS, 137(2), 1-10. DOI: 10.1542/peds.2015-2206  

Choi GB, Yim YS, Wong H, Kim S, Kim H, Kim SV, Hoeffer CA, Littman DR, & Huh JR. (2016) The maternal interleukin-17a pathway in mice promotes autismlike phenotypes in offspring. Science (New York, N.Y.). PMID: 26822608  

  • January 31, 2016
  • 02:57 PM

The brains of patients with schizophrenia vary depending on the type of schizophrenia

by Dr. Jekyll in Lunatic Laboratories

I have a friend who lost an eye to his brother. Yes, you read that correctly, his brother tried to kill him and in the process he lost his eye. I’ve told this story before, but whenever new schizophrenia research comes out I feel the need to tell it again. While he has forgiven his brother (partly because not long after, he was diagnosed as schizophrenic), he will not be able to see him again until he is released from prison. A tragedy that could’ve been avoided had he been diagnosed sooner. Sadly now that he is treated, most days, you wouldn’t know he’s schizophrenic.

... Read more »

  • January 30, 2016
  • 03:21 PM

Neurological adaptations to the presence of toxic HIV protein

by Dr. Jekyll in Lunatic Laboratories

Nearly half of HIV infected patients suffer from impaired neurocognitive function. The HIV protein transactivator of transcription (Tat) is an important contributor to HIV neuropathogenesis because it is a potent neurotoxin that continues to be produced despite treatment with antiretroviral therapy.

... Read more »

  • January 30, 2016
  • 01:17 PM

This Month in Blastocystis Research (JAN 2016)

by Christen Rune Stensvold in Blastocystis Parasite Blog

The first post in the This Month in Blastocystis Research series in 2016 is about Blastocystis epidemiology in India (including IBS patients), views on treatment, and Blastocystis in non-human primates.... Read more »

Pandey PK, Verma P, Marathe N, Shetty S, Bavdekar A, Patole MS, Stensvold CR, & Shouche YS. (2015) Prevalence and subtype analysis of Blastocystis in healthy Indian individuals. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases, 296-9. PMID: 25701123  

Kurt Ö, Doğruman Al F, & Tanyüksel M. (2016) Eradication of Blastocystis in humans: Really necessary for all?. Parasitology international. PMID: 26780545  

  • January 30, 2016
  • 04:00 AM

Autism in phenylketonuria (PKU)

by Paul Whiteley in Questioning Answers

"Autism has been reported in untreated patients with phenylketonuria."Indeed it has, as the paper by Sameh Khemir and colleagues [1] revisits something of a long known about association whereby the archetypal inborn error of metabolism that is phenylketonuria (PKU) has been linked to the presentation of autism or autistic traits [2].Looking at 18 participants diagnosed with PKU, Khemir et al "report their clinical, biochemical and molecular peculiarities" (authors words not mine) and how 15 of the 18 presented with autism as per assessment with "The Childhood Autism Rating Scale and the Autism Diagnostic Interview-Revised." Following some molecular biological analysis specifically with the "phenylalanine hydroxylase gene" in mind (a key player in PKU), the authors reported on various potentially important issues but "no correlation between autism and mutations affecting the phenylalanine hydroxylase gene."I have a lot of time for PKU on this blog. Not only because PKU represents one of the best examples of how certain foods for some can affect development and onwards mental health (see here) but also because some of the other intervention options for PKU (outside of low phenyalanine diet) might hold some promise for some autism too (see here). Indeed, the idea that tetrahydrobiopterin (BH4) - an important cofactor for phenyalanine hydroxylase and related aromatic amino acid hydroxylase enzymes - might be quite good at helping to mop up excess phenylalanine and other compounds continues to find favour in some autism research circles. Dare I also mention the effects of BH4 on tryptophan and 5-HTP as potentially being relevant to some autism too? (see here)In many parts of the world, the advent of the newborn screening program (built on the genius of people like Robert Guthrie and others) has all but eradicated untreated PKU and perhaps impacted on the number of people presenting with autism too. There remain however, challenges in certain areas of the globe, where people are not so fortunate to have such screening measures in place. Indeed, Khemir and colleagues report their results based in Tunisia and Algeria; other geographically related areas might also benefit from the implementation of such screening practices [3].     Just before I go, there is one last comment to make on something discussed by Khemir and colleagues: "age of diet onset was the determining factor in autistic symptoms' evolution." Diet, as I've mentioned, refers to the low phenylalanine (low protein) diet commonly used to manage PKU. It appears that there might be more to see in terms of how long PKU goes untreated and the progression of autistic traits similar to other descriptions, particularly the findings reported by Baieli and colleagues [4]: "None out of 62 patients with classic PKU diagnosed early met criteria for autism. In the group of 35 patients diagnosed late, two boys (5.71%) ages 16 and 13 years fulfilled the diagnostic criteria for autism."Diet potentially affecting the presentation of autism eh? I'll be coming to the paper by Oyarzabal and colleagues [5] soon enough built on some related research...Music: Led Zeppelin - Rock And Roll.----------[1] Khemir S. et al. Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects. J Child Neurol. 2016 Jan 12. pii: 0883073815623636.[2] Miladi N. et al. Phenylketonuria: an underlying etiology of autistic syndrome. A case report. J Child Neurol. 1992 Jan;7(1):22-3.[3] Saad K. et al. ADHD, autism and neuroradiological complications among phenylketonuric children in Upper Egypt. Acta Neurol Belg. 2015 Dec;115(4):657-63.[4] Baieli S. et al. Autism and phenylketonuria. J Autism Dev Disord. 2003 Apr;33(2):201-4.[5] Oyarzabal A. et al. Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism. Biochim Biophys Acta. 2016 Jan 22. pii: S0925-4439(16)30003-5.----------Khemir S, Halayem S, Azzouz H, Siala H, Ferchichi M, Guedria A, Bedoui A, Abdelhak S, Messaoud T, Tebib N, Belhaj A, & Kaabachi N (2016). Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects. Journal of child neurology PMID: 26759449... Read more »

Khemir S, Halayem S, Azzouz H, Siala H, Ferchichi M, Guedria A, Bedoui A, Abdelhak S, Messaoud T, Tebib N.... (2016) Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects. Journal of child neurology. PMID: 26759449  

  • January 29, 2016
  • 01:51 PM

How to unlock inaccessible genes

by Dr. Jekyll in Lunatic Laboratories

An international team of biologists has discovered how specialized enzymes remodel the extremely condensed genetic material in the nucleus of cells in order to control which genes can be used. It was known that the DNA in cells is wrapped around proteins in structures called nucleosomes that resemble beads on a string, which allow the genetic material to be folded and compacted into a structure called chromatin.

... Read more »

de Dieuleveult, M., Yen, K., Hmitou, I., Depaux, A., Boussouar, F., Dargham, D., Jounier, S., Humbertclaude, H., Ribierre, F., Baulard, C.... (2016) Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells. Nature. DOI: 10.1038/nature16505  

  • January 29, 2016
  • 04:23 AM

A role for dermatologists in diagnosing BHD earlier

by Danielle Stevenson in BHD Research Blog

Birt-Hogg-Dubé (BHD) syndrome was initially described as a heritable dermatological condition based on the presence of multiple fibrofolliculomas, trichodiscomas and acrochordons in a Canadian kindred (Birt et al., 1977). Now it is known that BHD patients can also develop pulmonary cysts, with an associated risk of pneumothorax, and bilateral, multifocal renal tumours. Due to the risk of tumour development it is important that patients are diagnosed early, enabling them to access regular screening and earlier treatment if required.... Read more »

Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, & Baptista AP. (2015) Benign follicular tumors. Anais brasileiros de dermatologia, 90(6), 780-98. PMID: 26734858  

  • January 29, 2016
  • 02:56 AM

Mortality and autism: comorbidity counts

by Paul Whiteley in Questioning Answers

I don't enjoy talking about mortality and autism on this blog but once again I'm drawn to discuss this important topic based on some recent findings published by Diana Schendel and colleagues [1]. I say these are important findings on the basis of how researchers took into account the possible role played by psychiatric and neurological comorbidity occurring alongside autism when it comes to the quite alarming mortality statistics.Drawing on the findings reported in their paper and an interview discussing the study (see here), the Schendel results are again based on the examination of one of those very useful Scandinavian registries (several in fact) based in Denmark. Following the "unique 10-digit identifier assigned to all live births and new residents in Denmark" researchers were able to track down the records of over 20,000 children and young adults diagnosed with an autism spectrum disorder (ASD) from a total population of some 1.9 million people "born in Denmark during the period from 1980 to 2010 who were alive at 1.5 years of age and followed up through 2013." The presence of "comorbid mental, behavioral, and neurologic disorders" was also deciphered from records and the rather grim process of determining death and causes of death among any cohort members was carried out.Results: perhaps unsurprisingly there was a difference in mortality risk between those with ASD compared with those without. Those with autism had a 2-fold higher mortality risk, bearing in mind that older children and young adults were the focus of this study - "Of the 20 492 persons with ASD, 68 died (0.3%)." Most of those who had passed away also had additional comorbidity (83%). Worryingly, in about a quarter of deaths, suicide was listed as the cause; a further quarter died in accidents. Also: "The co-occurrence of ASD added no additional mortality risk for persons with neurologic... or mental/behavioral disorders...  compared with persons with these disorders and no ASD."There is quite a bit to take from these results. First and foremost is that they provide further evidence that the risk of [early] mortality is seemingly heightened when a diagnosis of autism is received. Sixty-eight deaths out of over 20,000 might not sound a lot in cold statistical terms, but those were 68 people with 68 families and loved ones.Next is the idea that comorbidity often plays a big role in relation to autism. I've lost count of the number of times that both medical and psychiatric comorbidity attached to autism have been discussed on this blog. Suffice to say that the label of autism is seemingly protective of nothing when it comes to other diagnoses/labels appearing (see here for example) and certain types of comorbidity carry their own early mortality risks (see here). I might also add that, on occasion, the diagnosis of autism may also represent an obstacle to receiving another appropriate medical diagnosis and where possible, intervention (see here).The suggestion that suicide was represented in the mortality figures detailed by Schendel et al is a real worry although not entirely a new finding. Previous research has talked about levels of suicide ideation when it comes to the autism spectrum (see here) and even some extreme examples of euthanasia requests from individuals on the autism spectrum (see here). A lot more needs to be done to find out why suicide is over-represented and what we can do about it. I might suggest that preferential screening and monitoring for potential correlates of suicide (ideation or attempted) might be a good starting point (see here).Finally, the idea that accidental death featured in the statistics is also concerning. I can't comment on the specific types of accident that may more readily feature when it comes to early mortality and autism but one only needs to look at the literature and very sad reports on the issue of wandering and autism to see what might potentially figure (see here). With this issue in mind, I'll draw your attention to some positive activities designed to counteract or mitigate such risk (see here).And just before I leave you, I might also draw your attention to some other research from some of the authors on the Schendel paper talking about an increased mortality risk in cases of obsessive-compulsive disorder (OCD) [2] potentially also relevant in light of the topic of comorbidity and autism (see here)...----------[1] Schendel DE. et al. Association of Psychiatric and Neurologic Comorbidity With Mortality Among Persons With Autism Spectrum Disorder in a Danish Population. JAMA Pediatr. 2016 Jan 11:1-8.[2] Meier SM. et al. Mortality Among Persons With Obsessive-Compulsive Disorder in Denmark. JAMA Psychiatry. 2016. 27 Jan.----------Schendel, D., Overgaard, M., Christensen, J., Hjort, L., Jørgensen, M., Vestergaard, M., & Parner, E. (2016). Association of Psychiatric and Neurologic Comorbidity With Mortality Among Persons With Autism Spectrum Disorder in a Danish Population JAMA Pediatrics DOI: 10.1001/jamapediatrics.2015.3935... Read more »

  • January 28, 2016
  • 02:36 PM

It’s complicated: Benefits and toxicity of anti-prion antibodies in the brain

by Dr. Jekyll in Lunatic Laboratories

Immunotherapy to ameliorate neurodegeneration by targeting brain protein aggregates with antibodies is an area of intense investigation. A new study examines seemingly contradictory earlier results of targeting the prion protein and proposes a cautionary way forward to further test related therapeutic approaches.

... Read more »

Reimann, R., Sonati, T., Hornemann, S., Herrmann, U., Arand, M., Hawke, S., & Aguzzi, A. (2016) Differential Toxicity of Antibodies to the Prion Protein. PLOS Pathogens, 12(1). DOI: 10.1371/journal.ppat.1005401  

  • January 28, 2016
  • 12:01 PM

A probiotic E. coli from the trenches of World War I

by Rosin Cerate in Rosin Cerate

Escherichia coli is a two-faced little slimeball.As is often the case with bacteria, it comes in many varieties. Some, such as the infamous O157:H7 serotype, can make people very ill. Once inside us (usually via contaminated food or water), they do harmful things like pump out toxins and feast upon the walls of our intestines. We're talking lots of bloody diarrhea.Yet other strains of E. coli have done us a lot of good. For decades now, research laboratories have been using strain K12 and its many derivatives to manipulate DNA. For example, it was a key component of a kit I used throughout grad school to help fish out and sequence particular genes from communities of bacteria I was working with. It's also been engineered to produce useful proteins such as insulin on an industrial scale, which is otherwise pretty much impossible to do.Another good aligned E. coli strain by the name of Nissle 1917 (it also goes by EcN or O6:K5:H1) can actually improve the health of our guts instead of damaging them. In other words, it's a probiotic.E. coli Nissle 1917 hanging out on some pig intestine cells (Source)In the early 20th century, a German doctor by the name of Alfred Nissle became interested in the idea of using harmless E. coli strains hanging out in our intestines as a sort of living drug to inhibit the growth of other bacteria (e.g. Salmonella) responsible for intestine-based diseases. In 1917, with World War I still raging throughout Europe, Nissle came across a young solider who had been fighting in the Balkan peninsula. This particular soldier was notable for not having fallen ill with bacterial dysentery, which otherwise spread like wildfire among the troops in the region of Dobrudja where he was stationed for a time. Nissle was all like, this dude must have some sort of awesome protective E. coli in his gut. Low and behold, he isolated EcN from the soldier's poop.After evaluating the strain in the lab and even swallowing a bit of it to ensure it wasn't harmful, Nissle introduced it as a medicine. Going by the name of Mutaflor, preparations of living EcN were initially used in Germany to treat infectious diarrhea in both people and livestock. Hitler is known to have received a dose or two. Its bacteria-inhibiting action was a boon in the era before the widespread availability of antibiotics. Subsequently, EcN was found to be helpful with gut problems not caused by bacteria, including long-term constipation and inflammatory bowel diseases (e.g. ulcerative colitis). It's also been used to stimulate the immune systems of babies born prematurely, which is super neat.If you swallow a gelatin capsule stuffed with EcN (coated to ensure it isn't broken down by stomach acid), the bacterium is able to rapidly colonize your intestines without making you ill. As it does this, it crowds out disease-causing bacteria, messes with their ability to invade the walls of your intestine, and boosts your innate immune system (e.g. production of antimicrobial peptides) while damping down on inflammation.ReferencesNzakizwanayo J, Dedi C, Standen G, Macfarlane WM, Patel BA, Jones BV. 2015. Escherichia coli Nissle 1917 enhances bioavailability of serotonin in gut tissues through modulation of synthesis and clearance. Scientific Reports 5:17324. [Full text]Sonnenborn U, Schulze J. 2009. The non-pathogenic Escherichia coli strain Nissle 1917 – features of a versatile probiotic. Microbial Ecology in Health and Disease 21(3-4):122-158. [Full text]Toloza L, Giménez R, Fábrega MJ, Alvarez CS, Aguilera L et al. 2015. The secreted autotransporter toxin (Sat) does not act as a virulence factor in the probiotic Escherichia coli strain Nissle 1917. BMC Microbiology 15: 250. [Full text]... Read more »

  • January 28, 2016
  • 02:55 AM

ICF core sets for autism continued: what do experts think about autism?

by Paul Whiteley in Questioning Answers

Consider this post an extension of a previous discussion thread (see here) continuing the voyage of developing "International Classification of Functioning, Disability and Health (ICF; and Children and Youth version, ICF(-CY)) Core Sets for Autism Spectrum Disorder (ASD)."This time around it is another paper by Elles de Schipper and colleagues [1] (open-access available here) providing the blogging fodder and specifically the stage two of their four stage project building up those core sets for how we might conceptualise functioning and health when it comes to the autism spectrum. So: "The objective of this study was to survey the opinions and experiences of international experts on functioning and disability in ASD."Those experts included responses from over 200 professionals ranging from physicians (22%) to nurses (3%) and everyone in-between including some really worthwhile representation from the all-rounder that is the occupational therapist (OT) (20%). They were asked various questions pertinent to the development of the core sets for autism including aspects designed to cover the "bio-psycho-social of the ICF(-CY)" and questions around "the possible functional strengths in ASD and the... possible gender differences in functioning and disability."The data presented provides a fascinating insight into what experts think about [childhood] autism derived from the extracted "8792 meaningful concepts." I don't want to plagiarise the whole document but some key points emerge:As perhaps expected, social interaction issues feature heavily when it comes to defining important items for the ICF; "complex interpersonal interactions" comes top in one category of definable codes followed not so far behind by "basic interpersonal interactions." Communication issues are also mentioned as, importantly, are motor issues e.g. "fine hand use." I've talked about motor issues and autism before (see here).When asked about "ASD-related skills and functional strengths", the notion of "attention to detail" was prominent as was: "A preference to work on repeated or monotonous tasks." Experts also recognised that a "Strong sense of morality (e.g., honesty, lack of judgmental attitude, etc.)" was also a functional strength with other keywords such as "Trustworthiness" and "Loyalty" following suit. I was also interested to see that "Mathematical abilities" and "Technical abilities (computer skills, engineering)" were also reported in this section (see Table 6). Personally I think we have to be quite careful about sweeping generalisations of people on the autism all being 'maths geniuses' given data suggesting the contrary (see here) even when information might "mainly [be] associated with higher functioning individuals." Likewise, technical abilities in computing or engineering although important for quite a few people on the autism spectrum should not necessarily define all autism or all future job prospects (see here).When it came to opinions about 'body structures' potentially pertinent to autism, it is interesting that although most experts heavily endorsed involvement of the brain - "structures of the nervous system" - quite a few also saw other body structures as being important. So: "structure of intestine" was mentioned by about 15% of experts and "structure of stomach" by a smaller percentage. Bearing in mind the array of experts quizzed about these core sets and their varied areas of work and expertise, the inclusion of the gastrointestinal (GI) tract will be a welcome one for quite a few people (see here).Gender differences in the presentation of autism also created some discussion. Of the 60% or so of experts who "reported gender-related differences in ASD" quite a few focused on the idea that "more externalizing behaviors among males and more internalizing behaviors in females" were notable. Indeed, that females may be more likely to be 'overlooked' as being on the autism spectrum as a function of being "better socially adjusted, showing more prosocial behaviors, communication skills and friendships than males." This perhaps accords with other findings in the research literature (see here) onwards to the idea of a female phenotype or more.I would encourage readers to take some time to read through the latest article from de Schipper et al for the important information that it holds. As and when the development of the core sets is eventually finished, autism research and practice will probably be hearing a lot about them. I dare say that one day they may become fundamental to autism research and practice. In the meantime, I'll be keeping my eyes open for further peer-reviewed publications from this group on this topic; the expected next stage I think being 'a patient and caregiver qualitative study' and thereafter a 'clinical cross-sectional study'. Interesting times lie ahead for the core sets for autism as indeed applied to other labels too [2].Music and something from arguably one of the most well-educated singers/bands ever... Stranger Than Fiction.----------[1] de Schipper E. et al. Functioning and disability in autism spectrum disorder: A worldwide survey of experts. Autism Res. 2016 Jan 8.[2] de Schipper E. et al. Towards an ICF core set for ADHD: a worldwide expert survey on ability and disability. Eur Child Adolesc Psychiatry. 2015 Dec;24(12):1509-21.----------de Schipper E, Mahdi S, de Vries P, Granlund M, Holtmann M, Karande S, Almodayfer O, Shulman C, Tonge B, Wong VV, Zwaigenbaum L, & Bölte S (2016). Functioning and disability in autism spectrum disorder: A worldwide survey of experts. Autism research : official journal of the International Society for Autism Research PMID: 26749373... Read more »

de Schipper E, Mahdi S, de Vries P, Granlund M, Holtmann M, Karande S, Almodayfer O, Shulman C, Tonge B, Wong VV.... (2016) Functioning and disability in autism spectrum disorder: A worldwide survey of experts. Autism research : official journal of the International Society for Autism Research. PMID: 26749373  

  • January 27, 2016
  • 11:00 PM

Measuring games in the Petri dish

by Artem Kaznatcheev in Evolutionary Games Group

For the next couple of months, Jeffrey Peacock is visiting Moffitt. He’s a 4th year medical student at the University of Central Florida with a background in microbiology and genetic engineering of bacteria and yeast. Together with Andriy Marusyk and Jacob Scott, he will move to human cells and run some in vitro experiments with […]... Read more »

Archetti, M., Ferraro, D.A., & Christofori, G. (2015) Heterogeneity for IGF-II production maintained by public goods dynamics in neuroendocrine pancreatic cancer. Proceedings of the National Academy of Sciences of the United States of America, 112(6), 1833-8. PMID: 25624490  

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