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  • March 10, 2017
  • 03:37 AM

I would walk 500 miles... or maybe just 8 miles (a day).

by Paul Whiteley in Questioning Answers

"Desk-bound workers should ‘walk EIGHT miles a day’ to slash risk of heart attacks or stroke" went one headline talking about the findings reported by William Tigbe and colleagues [1]. Drawing on data from over 110 postal workers - "(55 office-workers, 5 women, and 56 walking/delivery-workers, 10 women)" - who wore "activPAL physical activity monitors for seven days", researchers observed some potentially important trends.Alongside wearing their activity monitors, participants were also assessed on the basis of weight, height, and blood pressure; also providing blood samples pertinent to analyses for cholesterol and triglycerides. Such collected data were used to assess cardiovascular risk based on the PROCAM risk calculator.Results: those who were described as office workers and had a 'desk job' were generally larger at the waist and showed a slightly larger body mass index (BMI) score. They were also deemed to have an elevated risk of cardiovascular disease (over 10 years) compared with the walking/delivery workers. These observations were discussed in terms of the sedentary behaviours associated with their desk job. By contrast, those who delivered post (i.e. were active for large parts of the day) fared quite a bit better than their desk-bound colleagues, bearing in mind that all study participants were fairly healthy to begin with in terms of being non-smokers for example and not being in current receipt of blood pressure or glucose lowering medicines at time of study.The 'walk 8 miles a day' headline that followed the Tigbe study was derived from the observation(s) that: "Those with no metabolic syndrome features walked >15 000 steps/day, or spent >7 h/day upright." Metabolic syndrome refers to a collection of symptoms - "a combination of diabetes, high blood pressure and obesity" - that increases the risk of adverse events associated with cardiovascular (dys)function. It seems that being active, or at least not being sedentary, is important for our health - a shocker indeed!I've covered some of the other research in this area before (see here and see here for examples) and so the Tigbe results really don't come as a surprise. The strengths of the study are multiple in terms of objective measuring of activity (not reliant on the 'how much activity/exercise did you do today' type questionnaires) and all those biochemical measurements taken for participants to complement such findings. Yes, the sample size is OK but not particularly large and yes, these were pretty healthy participants to start with, but the results are nonetheless important.Obviously one has to be a little careful so as not to imply that being active is the only thing that leads to good health and wellbeing. Science has already heard about how 'you can't outrun a bad diet' [2] and for some people, walking 15,000 steps every day or even standing up for 7 hours a day is going to be a big ask. But as part of a package of 'interventions' to potentially ward off metabolic syndrome or related issues [3], the idea that we should all be quite a bit more active is one that really should be given a lot more consideration...Music to close, and with the title to this post, what else could I offer?----------[1] Tigbe WW. et al. Time spent in sedentary posture is associated with waist circumference and cardiovascular risk. Int J Obes (Lond). 2017 Jan 31.[2] Malhotra A. et al. It is time to bust the myth of physical inactivity and obesity: you cannot outrun a bad diet. Br J Sports Med. 2015 Aug;49(15):967-8.[3] Alexander DD. et al. A Meta-Analysis of Randomized Controlled Trials and Prospective Cohort Studies of Eicosapentaenoic and Docosahexaenoic Long-Chain Omega-3 Fatty Acids and Coronary Heart Disease Risk. Mayo Clinic Proceedings. 2017; 92: 15-29.----------Tigbe WW, Granat MH, Sattar N, & Lean ME (2017). Time spent in sedentary posture is associated with waist circumference and cardiovascular risk. International journal of obesity (2005) PMID: 28138134... Read more »

  • March 9, 2017
  • 08:18 AM

Getting High Off Snakebites?

by Neuroskeptic in Neuroskeptic_Discover

In a curious case report, Indian psychiatrists Lekhansh Shukla and colleagues describe a young man who said he regularly got high by being bitten by a snake.

The 21-year old patient sought treatment for his heavy drug abuse, which included heroin and marijuna. He also reported a less conventional habit: he visited a local snake charmer, where he was bitten on the lips by a "cobra" in order to get high:
He reported that his peers and the snake charmer informed him that he would have drows... Read more »

Shukla L, Reddy SS, Kandasamy A, & Benegal V. (2017) What kills everyone, gives a high for some-Recreational Snake Envenomation. Asian journal of psychiatry, 106-108. PMID: 28262128  

  • March 9, 2017
  • 04:58 AM

This Is How Vision, Not Limbs, May Have Driven Fish onto Land

by beredim in Strange Animals

In a recent study, researchers provide a new theory for the reason we walk the Earth

A new provocative study suggests it was the power of the eyes and not the limbs that first led our ancient aquatic ancestors to make the momentous leap from water to land. According to it, crocodile-like animals first saw easy meals on land and consequently evolved limbs that enabled them to get there, ... Read more »

MacIver MA, Schmitz L, Mugan U, Murphey TD, & Mobley CD. (2017) Massive increase in visual range preceded the origin of terrestrial vertebrates. Proceedings of the National Academy of Sciences of the United States of America. PMID: 28270619  

  • March 9, 2017
  • 04:06 AM

"Relatives of individuals with ASD were at higher risk of ADHD"

by Paul Whiteley in Questioning Answers

"Individuals with ASD [autism spectrum disorder] and their relatives are at increased risk of ADHD [attention-deficit hyperactivity disorder]."So said the paper published by Laura Ghirardi and colleagues [1] (open-access) who studied "1 899 654 individuals born in Sweden between 1987 and 2006" and identified some 28,000 cases of ASD and 82,000 cases of ADHD "with 13 793 individuals... being comorbid cases."Results: "Individuals with ASD were at higher risk of having ADHD, compared with those who did not have ASD (OR=22.33, 95% CI: 21.77–22.92)." This is not a particularly surprising finding given what is already emerging in peer-reviewed science and clinical circles about autism rarely appearing in some sort of diagnostic vacuum (see here). The authors also report that: "the prevalence of ASD–ADHD comorbidity was higher in males (1.01%) than in females (0.43%)."Looking further at various degrees of familial relationship starting with monozygotic (MZ) twins - twins sharing the same genome - outwards to full- and half-cousins, authors reported a sort of sliding scale of risk on the association between autism and ADHD. So: "monozygotic twins of ASD cases had an increased risk of having ADHD" which was a higher risk than that noted for dizygotic (non-identical twins). Next on the list of heightened risk of ADHD where another family member was diagnosed with autism was a full sibling (actually, the calculated risk was slightly higher for full siblings over dizygotic twins) and then maternal and paternal half siblings respectively. The authors note that: "The pattern of within-family associations between ASD and ADHD across different types of relatives reflected the decreasing genetic resemblance among them." This potentially signifies quite a substantial role for genetics when it comes to the co-occurrence of autism and ADHD as per other important data [2] (assuming that environmental - non-genetics - factors don't impact on pregnancy or before pregnancy processes related to sperm and egg for example).Where next? Well, the pathway(s) potentially linking autism and ADHD still requite a lot more investigation. With my continued interest in how autism and ADHD might 'set someone up' for later mental health issues (see here and see here for examples) I'd be inclined to widen the range of diagnoses/labels that might also need examination pertinent to processes involved. Assuming also that genes for autism or ADHD might not necessarily be just genes for autism and ADHD (see here), an open mind needs to be kept of what could be potentially involved, as per the whole immune system link for example (see here). I'd also be inclined to suggest that the Ghirardi findings suggest greater examination a possible new dimension when it comes to concepts like the broader autism phenotype (BAP) (see here) too (including signs and symptoms based around sensory profiles [3]).Music to close: The Flaming Lips - She Don't Use Jelly.----------[1] Ghirardi L. et al. The familial co-aggregation of ASD and ADHD: a register-based cohort study. Mol Psychiatry. 2017 Feb 28.[2] Sokolova E. et al. A Causal and Mediation Analysis of the Comorbidity Between Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). J Autism Dev Disord. 2017 Mar 2.[3] Bijlenga D. et al. Atypical sensory profiles as core features of adult ADHD, irrespective of autistic symptoms. European Psychiatry. 2017. Feb 21.----------Ghirardi L, Brikell I, Kuja-Halkola R, Freitag CM, Franke B, Asherson P, Lichtenstein P, & Larsson H (2017). The familial co-aggregation of ASD and ADHD: a register-based cohort study. Molecular psychiatry PMID: 28242872... Read more »

Ghirardi L, Brikell I, Kuja-Halkola R, Freitag CM, Franke B, Asherson P, Lichtenstein P, & Larsson H. (2017) The familial co-aggregation of ASD and ADHD: a register-based cohort study. Molecular psychiatry. PMID: 28242872  

  • March 8, 2017
  • 09:30 AM

Epigenetic Predisposition to Radiation Fibrosis

by Christoph Weigel in EpiBeat

Radiotherapy is a highly efficient treatment for many cancers including breast cancer. Intraoperative radiotherapy (IORT), a relatively new type of radiation therapy, has proven successful as a curative treatment for early cancer stages. However, in spite of great improvements in dose delivery and imaging technology, unwanted exposure of healthy tissue to radiation cannot be fully avoided. The resulting late-onset toxicity due to the exposure of health tissue currently limits the usefulness of radiation in cancer therapy. Radiation-induced fibrosis is among the most common complications arising in irradiated healthy tissue. Since epigenetic mechanisms have been shown to be involved in fibrosis, our group profiled DNA methylation patterns in primary dermal fibroblasts to better understand if inherent differences in healthy fibroblasts are associated with radiation fibrosis onset.... Read more »

Weigel C, Veldwijk MR, Oakes CC, Seibold P, Slynko A, Liesenfeld DB, Rabionet M, Hanke SA, Wenz F, Sperk E.... (2016) Epigenetic regulation of diacylglycerol kinase alpha promotes radiation-induced fibrosis. Nature communications, 10893. PMID: 26964756  

  • March 8, 2017
  • 04:09 AM

Blocking FRAAs and thyroid function in autism (continued)

by Paul Whiteley in Questioning Answers

Readers of this post are advised to check out a previous blogging occasion describing how 'FRAAs - folate receptor alpha autoantibodies - may correlate with reduced thyroid function in cases of autism' before heading into this entry on the recent paper published by Richard Frye and colleagues [1].You're back already? OK, well just in case you didn't read that last entry (😉), it's worthwhile first noting that: "Folate receptor α (FRα) autoantibodies (FRAAs) are prevalent in autism spectrum disorder (ASD). They disrupt the transportation of folate across the blood-brain barrier by binding to the FRα. Children with ASD and FRAAs have been reported to respond well to treatment with a form of folate known as folinic acid, suggesting that they may be an important ASD subgroup to identify and treat." Those are author words not mine (as is the clinical intervention mention).The 'thyroid' addition to their recent paper follows that previous paper by the authors [2] stating that: "blocking FRAAs are associated with reduced thyroid function and suggest that thyroid function should be examined in children with ASD who are positive for the blocking FRAAs."This time around the authors examined "blocking and binding FRAAs and thyroid stimulating hormone (TSH), free T4 (FT4), total T3 (TT3), reverse T3 (rT3), thyroid releasing hormone (TRH) and other metabolites" in 87 children diagnosed with an ASD. Some of their cohort had more than one measure of FRAAs, TSH and FT4.Results: "TSH, TT3 and rT3 were above the normal range in 7%, 33% and 51% of the participants and TRH was below the normal range in 13% of the participants." Further: "TSH concentration was positively and the FT4/TSH, TT3/TSH and rT3/TSH ratios were inversely related to blocking FRAA titers." The observation that levels of thyroid stimulating hormone (TSH) were positively correlated with blocking FRAA titers follows the same pattern as the previous findings reported by authors. Elevations in TSH normally imply that the 'thyroid is struggling' and potentially leaning towards hypothyroidism; the correlation with FRAA titers *could* imply that those blocking antibodies might be part and parcel of why the thyroid is struggling. Ergo: "This study suggests that thyroid dysfunction in ASD may be related to the blocking FRAA."Accepting that 'FRAA autism' (if I can call it that) is not a universal label to be applied to the autism spectrum (see here) the combined results in this area (with and without the thyroid bit added on) make for interesting reading. Not only do they offer yet another strand to the saying 'an autism diagnosis is the starting not finishing point' when it comes to assessments, but the possible intervention angle also comes to the forefront (see here).What else would I like to see in this area? Well, quite a bit more work on thyroid function and autism could be a good starting point, outside of the maternal thyroid function (autoimmunity) and offspring risk bit (see here). Given that also all those thyroid metabolites are reliant on iodine (the number referring to the number of thyroid units chemically attached), there could be quite a bit more to see when it comes to iodine and [some] autism too (see here). Then another research question: what happens to thyroid function as and when something like folinic acid is used? Science already has some idea that folinic acid - under double-blind, placebo-controlled conditions - might be useful for aspects of some autism (see here). Could we learn from other studies looking at folinic acid where thyroid function has been mentioned? [3] I daresay we could...To close, science is great. Especially when it talks about case reports like this...----------[1] Frye RE. et al. Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor alpha autoimmune disorder. J Neuroendocrinol. 2017 Feb 15.[2] Frye RE. et al. Folate Receptor Alpha Autoantibodies Modulate Thyroid Function in Autism Spectrum Disorder. NAJ Med Sci. 2014; 7: 53-56.[3] Blehaut H. et al. Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status. PLoS One. 2010 Jan 11;5(1):e8394.----------Frye RE, Wynne R, Rose S, Slattery J, Delhey L, Tippett M, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, & Quadros E (2017). Thyroid dysfunction in children with autism spectrum disorder is associated with folate receptor alpha autoimmune disorder. Journal of neuroendocrinology PMID: 28199771... Read more »

  • March 8, 2017
  • 03:16 AM

See the First Underwater Video of the Ultra-Rare True's Beaked Whale

by beredim in Strange Animals

The group feautred in this videp was formed by three adult or sub-adult whales. Social behavior of the True's Beaked Whale is still unknown but the group seemed to dive in a coordinated manner, as has been observed in other species of beaked whales. Credit: Roland Edler

True's beaked whales (Mesoplodon mirus) are such an elusive species that it's only now that we finally have the ... Read more »

Aguilar de Soto, N., Martín, V., Silva, M., Edler, R., Reyes, C., Carrillo, M., Schiavi, A., Morales, T., García-Ovide, B., Sanchez-Mora, A.... (2017) True’s beaked whale (Mesoplodon mirus) in Macaronesia. PeerJ. DOI: 10.7717/peerj.3059  

  • March 7, 2017
  • 05:23 AM

Herbal medicines 'for' ADHD systematically reviewed

by Paul Whiteley in Questioning Answers

The paper by Dennis Anheyer and colleagues [1] (open-access available here) is offered up for your reading consumption today, and the results of a review of the available published science - "Only randomized controlled trails (RCT)" (authors' spelling mistake not mine) - looking at the use of herbal medicines for the treatment/management of attention-deficit hyperactivity disorder (ADHD).OK I know some people read the term 'herbal medicine' and automatically think 'woo'. If I instead use the term 'pharmacognosy' to denote how plants and herbs are the starting material for quite a few active ingredients included in various medicines (and related products!), you can perhaps see that a little more scientific respect is required for our cumulative flora. Respect and caution I should perhaps say...Anheyer et al boiled the literature on this topic down into 9 studies fulfilling their eligibility criteria, covering a variety of herbal medicines. These included: Melissa officinalis, Valeriana officinalis, Passiflora incarnata, evening primrose oil, Gingko biloba, Pycnogenol and St. John’s Wort.  They concluded that based on their examination of the collected literature "no concrete recommendations for use can be made so far."But that's not to say that there weren't some potentially encouraging 'green shoots' to be seen in the literature reviewed. The "potential efficacy of pine bark extract [pycnogenol] in the therapy of ADHD" was mentioned, as the 'bark with bite' (see here) got something of a thumbs-up (or at least, not a thumbs down). Researchers also suggested that: "Low evidence could be found for Melissa officinalis, Valeriana officinalis and Passiflora incarnata" as part of a mixture (compound herbal preparation) indicating that more research might be indicated.It's also worth pointing out that within the studies examined by Anheyer and colleagues, the safety profiles of the herbal medicines used were typically good in relation to reported side-effects over the duration of their study. Only one 'serious event' was recorded as far as I can see when it came to the use of evening primrose oil and a participant who "developed severe diarrhea" (although even this event may not have been directly due to the remedy given).Where next I thought I heard you ask? Well, assuming one can get around any issues with the term 'herbal medicine' I'd like to think that further investigations could be attempted on some of the more favourable herbal medicines identified in this and other reviews [2] and what the active ingredients and relevant biological processes might be. Allied to the increasingly important data on how something like certain fatty acids might be an intervention option for some with ADHD (see here), there is potentially still much we can learn from applying the science of pharmacognosy to a label like ADHD.But, as I've said before, treat your herbal medicines (and other nutritional supplements) as what they are - medicines - and just be careful [3] particularly when other medicines might also be administered at the same time.----------[1] Anheyer D. et al. Herbal medicines in children with attention deficit hyperactivity disorder (ADHD): A systematic review. Complement Ther Med. 2017 Feb;30:14-23.[2] Sarris J. et al. Complementary medicines (herbal and nutritional products) in the treatment of Attention Deficit Hyperactivity Disorder (ADHD): a systematic review of the evidence. Complement Ther Med. 2011 Aug;19(4):216-27.[3] Mouly S. et al. Is the clinical relevance of drug-food and drug-herb interactions limited to grapefruit juice and Saint-John's Wort? Pharmacol Res. 2016 Sep 28. pii: S1043-6618(16)30991-4.----------Anheyer D, Lauche R, Schumann D, Dobos G, & Cramer H (2017). Herbal medicines in children with attention deficit hyperactivity disorder (ADHD): A systematic review. Complementary therapies in medicine, 30, 14-23 PMID: 28137522... Read more »

  • March 6, 2017
  • 07:32 AM

The growing divide between higher and low impact scientific journals

by Richard Kunert in Brain's Idea

Ten years ago the Public Library of Science started one big lower impact and a series of smaller higher impact journals. Over the years these publication outlets diverged. The growing divide between standard and top journals might mirror wider trends in scholarly publishing. There are roughly two kinds of journals in the Public Library of […]... Read more »

Vale, R.D. (2015) Accelerating scientific publication in biology. Proceedings of the National Academy of Sciences, 13439-13446. DOI: 10.1101/022368  

  • March 6, 2017
  • 05:39 AM

Bumblebees Learn To Score Goals For Food !

by beredim in Strange Animals

New study by researchers at Queen Mary University of London (QMUL) shows how bumblebees (Bombus terrestris) can be trained to score goals with a mini-ball, revealing unprecedented learning abilities:

Researchers train bumblebees to move a ball in order to access a sugar solution as a reward.

The study, published in the journal Science, suggests that species whose lifestyle demands advanced ... Read more »

  • March 6, 2017
  • 05:25 AM

"Logical fallacies in animal model research"

by Paul Whiteley in Questioning Answers

A paper which is a bit 'out of left field' is presented for your reading pleasure today and how one should be rather careful about how animal research - "with focus on animal models of mental illness" - is translated into relevance to humans [1].The paper by Espen Sjoberg is pertinent to various diagnostic labels including depression and schizophrenia. I would perhaps disagree with the author including autism under the specific heading of 'mental illness' (bearing in mind various mental health diagnoses can follow an autism diagnosis), but the discussions on how we should all be a little cautious about translating findings from animal research to real people ring as true for autism as they do for the other conditions discussed.The paper is open-access but a few choice phrases are worth highlighting from the 'what can we do about this ' section of the Sjoberg paper in these days of animal models of [insert condition name here].So: "Avoid making inferences about the animal’s thoughts, feelings, inner motivation, or understanding of the situation. We can report what the animals did, and what this means in the context of our hypothesis, but take care not to make assumptions of the inner workings of the animal." I note the words 'theory of mind' (ToM) are mentioned in another section of the paper which is interesting and potentially relevant to autism research history...Onwards: "No matter how validated an animal model is, we cannot be certain that a newly observed effect also applies to humans." The valproate model of autism is specifically mentioned in the Sjoberg text - where prenatal exposure to valproate may have implications for offspring development - but is not the only rodent model of autism (see here). The implication is that one has to be be mindful that just because findings might talk about intestinal inflammation associated with the valproate mouse model of autism for example (see here), this does not make them directly applicable to real people without looking at real people (who were prenatally exposed to valproate). The caveat being: "Remember that the strength of an animal model is to generate new knowledge and hypotheses relevant to the target group, including the assessment of potentially useful treatments, but that these new possibilities are only hypothetical once they are discovered."Finally: "Replicating an experiment in order to establish interval validity and reliability of an animal model is essential." Replication is a cornerstone of reliable science and so, where possible, when one finds and reports on a specific aspect of an animal model of some label or other, the experiment should be [independently] replicated. The author even goes further, bringing in another couple of 'R' words: reproduction and reconstruction ("A reconstruction involves redesigning an experiment, while maintaining the original hypothesis, in order to accommodate different species").The bottom line: don't over-hype your [animal research] findings if you've only looked at animal models and are presenting novel findings. In particular, make sure you write any press release mindful of what you were studying and how applicable the results may/may not be (outside of animals)...Music to close: an old favourite of this blog, Weezer and The Fonz...----------[1] Sjoberg EA. Logical fallacies in animal model research. Behavioral and Brain Functions. 2017; 13: 3.----------Sjoberg EA (2017). Logical fallacies in animal model research Behavioral and Brain Functions : 10.1186/s12993-017-0121-8... Read more »

Sjoberg EA. (2017) Logical fallacies in animal model research. Behavioral and Brain Functions. info:/10.1186/s12993-017-0121-8

  • March 4, 2017
  • 05:43 AM

Fatigue in adults with a 22q11.2 deletion syndrome

by Paul Whiteley in Questioning Answers

The genetic condition called 22q11.2 deletion syndrome (22q11.2DS) has, on occasion, provided some research fodder for this blog (see here and see here). The reason for its inclusion here has tended to be around the 'overlap' in the presentation of 22q11.2 and autism/autistic features and the importance of appropriate screening as and when an autism diagnosis is received (see here). Remember: receipt of an autism diagnosis is a starting point not the finishing line.Today I'm once again talking about 22q11.2 and specifically the results reported by Vergaelen and colleagues [1] on the need for more research/investigation on fatigue as a potentially important symptom when it comes to 22q11.2. This work links into another area of interest to this blog: chronic fatigue (syndrome) (CFS).OK, just for the record I'd like to point out that fatigue is not the same as chronic fatigue syndrome (indeed, as mentioned in a recent post, 'chronic disabling fatigue' is also not the same as chronic fatigue syndrome). Vergaelen et al relied on data from 29 people (adults) diagnosed with 22q11.2 who completed "the multidimensional fatigue inventory (MFI) measuring severity of fatigue." Results from the self-report schedule were "compared with published population norms" and suggested that: "Subscales and total MFI scores were significantly higher in adults with 22q11.2DS." Authors also noted that the presence of fatigue seemed to also affect scores on quality of life and depression in their cohort and recommend "a systematic clinical examination to exclude underlying somatic or psychiatric causes of fatigue."There's little more to say on this topic aside from reiterating the point that further clinical examinations should be undertaken to assess the possible hows and whys of fatigue presenting alongside 22q11.2 deletion syndrome. Given for example, previous work suggesting that mitochondrial disease might manifest as fatigue (as part of CFS that is) (see here) and some work linking "some 22q11DS genes implicated in mitochondrial function" [2] that is one option to consider among [likely] many.Music: and if like me, you watched the trailer to the new 'Logan' film and asked who 'sings that song?', well it was Johnny Cash and Hurt.----------[1] Vergaelen E. et al. High prevalence of fatigue in adults with a 22q11.2 deletion syndrome. Am J Med Genet A. 2017 Feb 12.[2] Devaraju P. & Zakharenko SS. Mitochondria in complex psychiatric disorders: Lessons from mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric disease. Bioessays. 2017 Feb;39(2).----------Vergaelen E, Claes S, Kempke S, & Swillen A (2017). High prevalence of fatigue in adults with a 22q11.2 deletion syndrome. American journal of medical genetics. Part A PMID: 28190295... Read more »

Vergaelen E, Claes S, Kempke S, & Swillen A. (2017) High prevalence of fatigue in adults with a 22q11.2 deletion syndrome. American journal of medical genetics. Part A. PMID: 28190295  

  • March 4, 2017
  • 12:05 AM

All-Atom Molecular Dynamics Simulations

by ragothamanyennamalli in Getting to know Structural Bioinformatics

With increasing computational power (aka GPU) that can be accessed these days, it is no wonder that performing all-atom molecular dynamics simulation for a longer time, with duplicates and/or triplicates, has become easier.... Read more »

  • March 3, 2017
  • 04:48 PM

Brain Activity At The Moment of Death

by Neuroskeptic in Neuroskeptic_Discover

What happens in the brain when we die?

Canadian researchers Loretta Norton and colleagues of the University of Western Ontario examine this grave question in a new paper: Electroencephalographic Recordings During Withdrawal of Life-Sustaining Therapy Until 30 Minutes After Declaration of Death

Norton et al. examined frontal EEG recordings from four critically ill patients at the point where their life support was withdrawn. Here are some details on the four:

Here's the EEG recor... Read more »

Norton L, Gibson RM, Gofton T, Benson C, Dhanani S, Shemie SD, Hornby L, Ward R, & Young GB. (2017) Electroencephalographic Recordings During Withdrawal of Life-Sustaining Therapy Until 30 Minutes After Declaration of Death. The Canadian Journal of Neurological Sciences, 44(2), 139-145. PMID: 28231862  

  • March 3, 2017
  • 06:14 AM

Rare Disease Day – Findacure Scientific Conference: Drug Repurposing for Rare Diseases

by Joana Guedes in BHD Research Blog

This year’s Findacure Scientific Conference took place in London on Rare Disease Day and was again focused on Drug Repurposing for Rare Diseases. The conference brought together over 100 representatives from patient groups, researchers and members of the healthcare industry to discuss the importance and the latest developments in drug repurposing for rare diseases.... Read more »

  • March 3, 2017
  • 03:56 AM

Poverty status and autism, ADHD and asthma

by Paul Whiteley in Questioning Answers

The paper by Christian Pulcini and colleagues [1] talking about poverty status potentially influencing "parent-reported lifetime prevalence and comorbidities" when it comes to three target conditions (autism, attention-deficit hyperactivity disorder [ADHD] and asthma) should have been a call to action. Concluding that "poor and near poor children had a higher lifetime prevalence of asthma and ADHD, but not ASD [autism spectrum disorder]" [2], some of the findings have instead attracted criticism based on the content of the abstract (see here); specifically the line: "the lifetime prevalence of ASD rose almost 400%."Poverty and diagnosis is a topic that I've covered before on this blog (see here for example) and how not every research study has linked poverty (measures of poverty) to something like autism and/or ADHD. At least that is, when taking into account "elevated emotional problems among children with ASD + ADHD" [3].On this most recent occasion, Pulcini et al drew on data derived from the "National Survey of Children's Health [NSCH] for years 2003, 2007, and 2011-2012" and specifically "trends in parent reported lifetime prevalence and comorbidity among children with asthma, ADHD, and ASD" taking into account variables like poverty status. The NSCH initiative has again, been talked about previously on this blog (see here and see here) in terms of parent-reported prevalence of autism and parent-reported epilepsy appearing alongside autism. It's a good rough-and-ready measure of what estimated prevalence rates might look like (with the need for further, more detailed study).This time around the authors illustrated that - yet again - the only way is up when it comes to estimated prevalence rates for all the 'target' conditions examined. I don't think anyone should be too surprised at such findings given data from other studies in other geographic areas (see here) specifically with the autism spectrum in mind. I'm not going to head into the debate about whether the 400% increase figure is right or wrong but will note previous findings [4] that suggested that: "differential survey measurement error over time was not a major contributor to observed changes in the prevalence of parent-reported ASD. Rather, much of the prevalence increase from 2007 to 2011–2012 for school-aged children was the result of diagnoses of children with previously unrecognized ASD." This for when data from the 2007 and 2011-2012 surveys were contrasted (not the 2003 survey).The contribution of poverty or near poverty was not to be sniffed at when it comes to those ADHD and asthma diagnoses. This is perhaps even more important when one considers that these two labels might be rather more 'entangled' than many people might have previously realised (see here). That a poverty and ADHD link might also generalise to somewhere like here in the UK is also worth noting (see here) and implies that quite a bit more research is needed to answer the question: why? With regards to autism (ASD), the observation that the "rise in ASD was associated with being nonpoor"adds to an on-going debate, with some studies saying yes, we agree, and other studies saying no, we don't (see here). In short, it is slightly more complicated when it comes to how social factors might affect autism rates.Music: Three steps to heaven.----------[1] Pulcini CD. et al. Poverty and Trends in Three Common Chronic Disorders. Pediatrics. 2017 Feb 13. pii: e20162539.[2] Dreyer BP. Congress Should Adopt a “Do No Harm to Children” Standard in Changes to Public Health Insurance. Pediatrics. 2017. Feb 2017.[3] Flouri E. et al. Poverty and the Growth of Emotional and Conduct Problems in Children with Autism With and Without Comorbid ADHD. J Autism Dev Disord. 2015 Sep;45(9):2928-38.[4] Blumberg SJ. et al. Changes in Prevalence of Parent-reported Autism Spectrum Disorder in School-aged U.S. Children: 2007 to 2011–2012. Natl Health Stat Report. 2013 Mar 20;(65):1-11.----------Pulcini CD, Zima BT, Kelleher KJ, & Houtrow AJ (2017). Poverty and Trends in Three Common Chronic Disorders. Pediatrics PMID: 28193790... Read more »

Pulcini CD, Zima BT, Kelleher KJ, & Houtrow AJ. (2017) Poverty and Trends in Three Common Chronic Disorders. Pediatrics. PMID: 28193790  

  • March 2, 2017
  • 04:11 AM

Subgroups in autism (without intellectual disability)

by Paul Whiteley in Questioning Answers

"Children with ASD [autism spectrum disorder] without ID [intellectual disability] could be differentiated into Moderate and Severe Social Impairment subgroups when core ASD symptoms were more closely examined."So said the findings reported by Felicity Klopper and colleagues [1] looking at an important part of the autism research scene related to the 'plurality' of the term autism and the seemingly vast range of presentations included under the label. Reliant on data obtained from "the ‘gold standard’ ASD diagnostic instruments" (including the ADOS and ADI), researchers looked at the "presence of phenotypic subgroups" in their cohort.As per the opening sentence to this post, there were some differences to be seen in the cohort, and in particular, how social interaction issues might be a key part of any differentiation. The authors talk about how social interaction issue differences seemed to tie into other core behavioural features such as communication and the presence of restricted/repetitive behaviours. They concluded: "both categorical and dimensional approaches may be useful in classifying ASD, with neither alone being adequate."It is not necessarily new news that the label of autism is good for diagnosis but seemingly says little about the range of presentation included under the heading (see here for example). Indeed, in these days of ESSENCE I might forward the view that even the label autism might be part of a wider heterogeneous presentation (see here) and one should further expand those subgroup notions at the label as well as symptom level. The focus on overt behaviour (as assessed by those gold-standard instruments) in the Klopper study is but one part of looking at such 'heterogeneity' (see here for example) as the authors argue that: "The dissociated profiles of ASD features could represent different underlying neurobiological mechanisms for each subgroup." At least one of the authors on the Klopper paper probably, more than most, realises that fact (see here).There are other key areas to this focus on the presentation of autism that also need to be factored in: sex differences and comorbidity profiles. Specifically, the growing realisation that girls and boys on the autism spectrum probably show subtle differences in presentation (see here) and, minus any sweeping generalisations, should be considered in future studies in this area. Oh, and keep in mind that those diagnosed with autism with an intellectual disability (ID) could also be 'sub-grouped' according to symptom presentation too with similar caveats. The question is: how many sub-groups of autism will we eventually end up with?Music, and because Spring has Sprung... In Bloom.----------[1] Klopper F. et al. A cluster analysis exploration of autism spectrum disorder subgroups in children without intellectual disability. Research in Autism Spectrum Disorders. 2017; 36: 66-78.----------Felicity Klopper, Renee Testa, Christos Pantelis, & Efstratios Skafidas (2017). A cluster analysis exploration of autism spectrum disorder subgroups in children without intellectual disability Research in Autism Spectrum Disorders : 10.1016/j.rasd.2017.01.006... Read more »

Felicity Klopper, Renee Testa, Christos Pantelis, & Efstratios Skafidas. (2017) A cluster analysis exploration of autism spectrum disorder subgroups in children without intellectual disability. Research in Autism Spectrum Disorders. info:/10.1016/j.rasd.2017.01.006

  • March 1, 2017
  • 09:00 AM

Transient Imprinting of Genes in the Human Placenta

by Marta Sanchez Delgado in EpiBeat

When the fertilization occurs, the maternal and paternal pronuclei have thousands of opposite methylated regions. Most of this germline methylation are resolved during the postfertilization epigenetic reprogramming by active mechanism for the sperm-derived methylated regions and depending on DNA replication for the oocyte-derived ones. There is a subset of regions that are known to avoid this demethylation: the imprinted differentially methylated regions (DMRs). The imprinted DMRs are in general located in promoter regions ,where the cytosine methylation marks one of the parental alleles influencing in the allelic expression of surrounding genes. The majority of known germline-derived imprinted DMRs are maternally methylated and this differentially methylated pattern are maintained throughout development– and latter in the adult tissue – except for the primordial germ cells, where imprinted are erased and the new methylation pattern will be established depending on the embryos gender.1

Recently, it have been identified in mouse preimplantational embryos a subset of transient differentially methylated regions. This tDMRs inherits their methylation mainly from the oocyte and subsequently gain methylation on their paternal alleles at implantation.2 In 2014 it was published the “DNA methylation dynamics of the human preimplantation embryo” but it is currently unknown how many germline methylation differences survive embryonic reprogramming as a tDMRs in humans.3... Read more »

Sanchez-Delgado M, Court F, Vidal E, Medrano J, Monteagudo-Sánchez A, Martin-Trujillo A, Tayama C, Iglesias-Platas I, Kondova I, Bontrop R.... (2016) Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting. PLoS genetics, 12(11). PMID: 27835649  

Smallwood SA, & Kelsey G. (2012) De novo DNA methylation: a germ cell perspective. Trends in genetics : TIG, 28(1), 33-42. PMID: 22019337  

Smith ZD, Chan MM, Humm KC, Karnik R, Mekhoubad S, Regev A, Eggan K, & Meissner A. (2014) DNA methylation dynamics of the human preimplantation embryo. Nature, 511(7511), 611-5. PMID: 25079558  

Barbaux S, Gascoin-Lachambre G, Buffat C, Monnier P, Mondon F, Tonanny MB, Pinard A, Auer J, Bessières B, Barlier A.... (2012) A genome-wide approach reveals novel imprinted genes expressed in the human placenta. Epigenetics, 7(9), 1079-90. PMID: 22894909  

Hanna CW, Peñaherrera MS, Saadeh H, Andrews S, McFadden DE, Kelsey G, & Robinson WP. (2016) Pervasive polymorphic imprinted methylation in the human placenta. Genome research, 26(6), 756-67. PMID: 26769960  

  • March 1, 2017
  • 04:13 AM

Sex and age might affect comorbidity profiles in autism

by Paul Whiteley in Questioning Answers

The paper by Supekar and colleagues [1] provides some food for thought today specifically with the idea that comorbidity profiles accompanying autism might be influenced by age and gender in mind.To quote: "These results highlight crucial differences between cross-sectional comorbidity patterns and their interactions with sex and age, which may aid in the development of effective sex- and age-specific diagnostic/treatment strategies for ASD [autism spectrum disorder] and comorbid conditions."From a starting point assuming that the diagnosis of autism rarely exists in some sort of diagnostic vacuum (see here), researchers set about looking at comorbidity patterns for quite a few conditions/labels "using cross-sectional data from 4790 individuals with ASD and 1,842,575 individuals without ASD." The sorts of things that looked for were not uncommon to discussions about comorbidity accompanying autism on this blog (epilepsy, attention-deficit hyperactivity disorder (ADHD) and "bowel disorders" for example). The variables of sex (gender) and age were also included in the research mix.Bearing in mind that sweeping generalisations about autism comorbidity profiles are not required, the authors highlighted a couple of important points. First: "Epilepsy, ADHD, and CNS/cranial anomalies showed exceptionally large proportions in both male (>19%) and female (>15%), children/adolescents with ASD. Notably, these prevalence rates decreased drastically with age in both males and females." This is interesting. With a rather large research gap quite visible when it comes to the concept of ageing and autism (see here), the author's data seems to be suggesting that the burden of comorbidity (some comorbidity) might decline as people diagnosed on the autism spectrum get older. Yes, the words "cross-sectional comorbidity" are important (more longitudinal study is required where people are 'followed' as they age) and there is no doubt that intervention to manage diagnoses such as epilepsy (and/or seizure disorder) probably plays a hand in presentation, but more investigation is certainly required.Next: "the prevalence of schizophrenia increased with age affecting a disproportionately large number of older (≥35 year) adult males (25%), compared to females (7.7%), with ASD." Two points are made here: (a) rates of schizophrenia might be affected by sex, and (b) age might play a role in the presentation of schizophrenia in the context of autism. This follows a theme re-emerging over these past few years suggesting that the autism and schizophrenia spectrums might not be as separate and independent as many might believe (see here and see here). Quite a lot of [research] focus has been directed at some of the signs and symptoms of schizophrenia with [some] autism in mind (see here for example) and perhaps queries whether history was 'too quick' to try and distance the two labels from each other (were Mildred Creak and colleagues correct?). Given the significant issues potentially linked to a diagnosis of schizophrenia (see here) in terms of health inequality and the like (something also sadly not unfamiliar to autism too), the onus should surely be to screen (and keep screening) for schizophrenia when autism is present into adulthood? Said screening could be preferentially driven by the Supekar findings taking into account that caveat about not over-generalising findings.I'm gonna stop there with discussing these results so as not to over-analyse the findings. The important take-away point is that autism is generally not a 'stand-alone' condition and that age and gender might have some important roles to play when it comes to at least some comorbidity.Music: something lively I think so increase the volume please...----------[1] Supekar K. et al. The influence of sex and age on prevalence rates of comorbid conditions in autism. Autism Res. 2017 Feb 11.----------Supekar K, Iyer T, & Menon V (2017). The influence of sex and age on prevalence rates of comorbid conditions in autism. Autism research : official journal of the International Society for Autism Research PMID: 28188687... Read more »

Supekar K, Iyer T, & Menon V. (2017) The influence of sex and age on prevalence rates of comorbid conditions in autism. Autism research : official journal of the International Society for Autism Research. PMID: 28188687  

  • February 28, 2017
  • 07:00 PM

Cataloging a year of blogging: complexity in evolution, general models, and philosophy

by Artem Kaznatcheev in Evolutionary Games Group

Last month, with just hours to spare in January, I shared a linkdex of the 14 cancer-related posts from TheEGG in 2016. Now, as February runs out, it’s time to reflect on the 15 non cancer-specific posts from last year. Although, as we’ll see, some of them are still related to mathematical oncology. With a […]... Read more »

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