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  • July 30, 2015
  • 08:00 AM
  • 1 view

New Insights into Human De Novo Mutations

by Daniel Koboldt in Massgenomics

De novo mutations — sequence variants that are present in a child but absent from both parents — are an important source of human genetic variation. I think it’s reasonable to say that most of the 3-4 million variants in any individual’s genome arose, once upon a time, as de novo mutations in his or her ancestors. […]... Read more »

Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I, Genome of the Netherlands Consortium, van Duijn CM, Swertz M, Wijmenga C.... (2015) Genome-wide patterns and properties of de novo mutations in humans. Nature genetics, 47(7), 822-6. PMID: 25985141  

  • July 30, 2015
  • 04:06 AM
  • 9 views

Inflammatory bowel disease and autism: increased prevalence

by Paul Whiteley in Questioning Answers

A quote to begin today's post:"Across each population with different kinds of ascertainment, there was a consistent and statistically significant increased prevalence of IBD [inflammatory bowel disease] in patients with ASD [autism spectrum disorder] than their respective controls and nationally reported rates for pediatric IBD."That was the conclusion reached in the paper published by Finale Doshi-Velez and colleagues [1] including one very notable name on the authorship list, Is........ Read more »

Doshi-Velez F, Avillach P, Palmer N, Bousvaros A, Ge Y, Fox K, Steinberg G, Spettell C, Juster I, & Kohane I. (2015) Prevalence of Inflammatory Bowel Disease Among Patients with Autism Spectrum Disorders. Inflammatory bowel diseases. PMID: 26218138  

  • July 29, 2015
  • 08:08 PM
  • 16 views

We can build it better: The first artificial ribosome

by Dr. Jekyll in Lunatic Laboratories

Researchers at the University of Illinois at Chicago and Northwestern University have engineered a tethered ribosome that works nearly as well as the authentic cellular component, or organelle, that produces all the proteins and enzymes within the cell. The engineered ribosome may enable the production of new drugs and next-generation biomaterials and lead to a better understanding of how ribosomes function.... Read more »

Orelle, C., Carlson, E., Szal, T., Florin, T., Jewett, M., & Mankin, A. (2015) Protein synthesis by ribosomes with tethered subunits. Nature. DOI: 10.1038/nature14862  

  • July 29, 2015
  • 07:48 PM
  • 15 views

Prostate cancer is 5 different diseases

by Dr. Jekyll in Lunatic Laboratories

Cancer Research UK scientists have for the first time identified that there are five distinct types of prostate cancer and found a way to distinguish between them, according to a landmark study. The findings could have important implications for how doctors treat prostate cancer in the future, by identifying tumours that are more likely to grow and spread aggressively through the body.... Read more »

  • July 29, 2015
  • 10:30 AM
  • 31 views

It’s 11 PM, Do You Know Where Your Organs Are?

by Mark Lasbury in As Many Exceptions As Rules

It’s a miracle that a human body ever works like it’s supposed to. So many things can go wrong and there’s so few ways for things to be right. Ever hear of a defect called situs ambiguus? It’s a big problem. And what’s more, when something like transposition of the great arteries occurs, it’s only a second defect that keeps the patients alive.... Read more »

  • July 29, 2015
  • 03:42 AM
  • 40 views

Gluten psychosis

by Paul Whiteley in Questioning Answers

"The present case-report confirms that psychosis may be a manifestation of NCGS [non-coeliac gluten sensitivity], and may also involve children; the diagnosis is difficult with many cases remaining undiagnosed."Elena Lionetti and colleagues [1] (open-access) provide an interesting read in today's post on how diet and psychiatry might once again be linked. Presenting a case report of a 14-year old girl coming to the attention of clinical services "for psychotic symptoms that were apparently ........ Read more »

Lionetti, E., Leonardi, S., Franzonello, C., Mancardi, M., Ruggieri, M., & Catassi, C. (2015) Gluten Psychosis: Confirmation of a New Clinical Entity. Nutrients, 7(7), 5532-5539. DOI: 10.3390/nu7075235  

  • July 29, 2015
  • 12:05 AM
  • 36 views

Should You be Nervous about Neural Changes Following ACL Surgery?

by Kyle Harris in Sports Medicine Research (SMR): In the Lab & In the Field

Following anterior cruciate ligament (ACL) surgery, patients have changes in the excitability of pathways that go from the brain (primary motor cortex) and down the spinal cord when compared with an uninjured limb as well as healthy control participants.... Read more »

Pietrosimone, B., Lepley, A., Ericksen, H., Clements, A., Sohn, D., & Gribble, P. (2015) Neural Excitability Alterations After Anterior Cruciate Ligament Reconstruction. Journal of Athletic Training, 50(6), 665-674. DOI: 10.4085/1062-6050-50.1.11  

  • July 28, 2015
  • 01:35 PM
  • 43 views

Where memory is encoded and retrieved

by Dr. Jekyll in Lunatic Laboratories

Are the same regions and even the same cells of the brain area called hippocampus involved in encoding and retrieving memories or are different areas of this structure engaged? This question has kept neuroscientists busy for a long time. Researchers at the Mercator Research Group “Structure of Memory” at RUB have now found out that the same brain cells exhibit activity in both processes.... Read more »

  • July 28, 2015
  • 03:35 AM
  • 59 views

Adult outcomes following childhood psychiatric problems

by Paul Whiteley in Questioning Answers

A long quote to begin:"If the goal of public health efforts is to increase opportunity and optimal outcomes, and to reduce distress, then there may be no better target than the reduction of childhood psychiatric distress—at the clinical and subthreshold levels."That was the bottom line reported by William Copeland and colleagues [1] (open-access) who set out to test whether psychiatric problems presenting in childhood can "adversely affect adult functioning even if the problems themselves do n........ Read more »

  • July 27, 2015
  • 02:49 PM
  • 68 views

Some vaccines support evolution of more-virulent viruses

by Dr. Jekyll in Lunatic Laboratories

Scientific experiments with the herpes virus such as the one that causes Marek’s disease in poultry have confirmed, for the first time, the highly controversial theory that some vaccines could allow more-virulent versions of a virus to survive, putting unvaccinated individuals at greater risk of severe illness. The research has important implications for food-chain security and food-chain economics, as well as for other diseases that affect humans and agricultural animals.... Read more »

Andrew F. Read, Susan J. Baigent, Claire Powers, Lydia B. Kgosana, Luke Blackwell, Lorraine P. Smith, David A. Kennedy, Stephen W. Walkden-Brown, & Venugopal K. Nair. (2015) Imperfect Vaccination Can Enhance the Transmission of Highly Virulent Pathogens. PLOS Biology. info:/10.1371/journal.pbio.1002198

  • July 27, 2015
  • 03:08 AM
  • 70 views

Incontinence and paediatric autism

by Paul Whiteley in Questioning Answers

Urinary incontinence - "the unintentional passing of urine" - is a fairly common issue affecting millions of people of all ages worldwide. Achieving full bladder and bowel control is seen as a typical part of growing up but for some children, particularly those diagnosed with a behavioural or developmental condition, issues with incontinence can persist much later into life [1].The findings reported by Alexander von Gontard and colleagues [2] bring the issue of incontinence into the autism resea........ Read more »

von Gontard A, Pirrung M, Niemczyk J, & Equit M. (2015) Incontinence in children with autism spectrum disorder. Journal of pediatric urology. PMID: 26052001  

  • July 27, 2015
  • 12:05 AM
  • 56 views

Accuracy, Affordability, and Portability! Use Your Tablet To Detect Postural Instability

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

Tablet hardware provided accurate data to quantify postural stability within 2.9° of data generated from a force platform system.... Read more »

Alberts, J., Hirsch, J., Koop, M., Schindler, D., Kana, D., Linder, S., Campbell, S., & Thota, A. (2015) Using Accelerometer and Gyroscopic Measures to Quantify Postural Stability. Journal of Athletic Training, 50(6), 578-588. DOI: 10.4085/1062-6050-50.2.01  

  • July 26, 2015
  • 07:39 PM
  • 90 views

Sleep not just protects memories against forgetting, it also makes them more accessible

by Dr. Jekyll in Lunatic Laboratories

Sleeping not only protects memories from being forgotten, it also makes them easier to access, according to new research from the University of Exeter and the Basque Centre for Cognition, Brain and Language. The findings suggest that after sleep we are more likely to recall facts which we could not remember while still awake.... Read more »

Dumay, N. (2015) Sleep not just protects memories against forgetting, it also makes them more accessible. Cortex. info:/http://hdl.handle.net/10871/17864

  • July 26, 2015
  • 12:22 AM
  • 72 views

The relationship between self-reported sleep disturbance and polysomnography in traumatic brain injury

by William Lu in The Quantum Lobe Chronicles

Check it out. My work during postdoc that was just published early online in Brain Injury. Feel free to contact me for a PDF copy.AbstractPRIMARY OBJECTIVE: To characterize sleep architecture and self-reported sleep quality, fatigue and daytime sleepiness in individuals with TBI. Possible relationships between sleep architecture and self-reported sleep quality, fatigue and daytime sleepiness were examined.METHODS: Forty-four community-dwelling adults with TBI completed the Pittsburgh Sleep Qua........ Read more »

  • July 25, 2015
  • 01:17 PM
  • 88 views

Spines of boys and girls differ at birth

by Dr. Jekyll in Lunatic Laboratories

Looking at measurements of the vertebrae – the series of small bones that make up the spinal column – in newborn children, investigators at Children’s Hospital Los Angeles found that differences between the sexes are present at birth. Results of the study suggest that this difference is evolutionary, allowing the female spine to adapt to the fetal load during pregnancy.... Read more »

Ponrartana, S., Aggabao, P., Dharmavaram, N., Fisher, C., Friedlich, P., Devaskar, S., & Gilsanz, V. (2015) Sexual Dimorphism in Newborn Vertebrae and Its Potential Implications. The Journal of Pediatrics, 167(2), 416-421. DOI: 10.1016/j.jpeds.2015.04.078  

  • July 25, 2015
  • 03:51 AM
  • 80 views

Medical comorbidity and adult autism (again)

by Paul Whiteley in Questioning Answers

Regular readers are probably tired of reading blog titles like the one for today on this site. It's not as if the idea that a diagnosis of autism might predispose someone to quite a few more comorbid conditions (see here and see here) hasn't been discussed on quite a few occasions.But just in case the message hasn't got through, I draw your attention to the paper by Kyle Jones and colleagues [1] concluding that: "Adults in this cohort of autism spectrum disorder first ascertained in the 198........ Read more »

  • July 24, 2015
  • 02:21 PM
  • 109 views

Brain structure reveals ability to regulate emotions

by Dr. Jekyll in Lunatic Laboratories

We all vary in how often we become happy, sad or angry, and also in how strongly these emotions are expressed. This variability is a part of our personality and can be seen as a positive aspect that increases diversity in society. However, there are people that find it so difficult to regulate their emotions that it has a serious impact on their work, family and social life. These individuals may be given an emotional instability diagnosis such as borderline personality disorder or antisocial pe........ Read more »

Petrovic, P., Ekman, C., Klahr, J., Tigerstrom, L., Ryden, G., Johansson, A., Sellgren, C., Golkar, A., Olsson, A., Ohman, A.... (2015) Significant gray matter changes in a region of the orbitofrontal cortex in healthy participants predicts emotional dysregulation. Social Cognitive and Affective Neuroscience. DOI: 10.1093/scan/nsv072  

  • July 24, 2015
  • 05:07 AM
  • 110 views

Analysing mutational heterogeneity to identify true cancer-associated genes

by Danielle Stevenson in BHD Research Blog

A recent blog post discussed the need to assess the pathogenicity of genetic variants to determine which mutations are truly causative and which are only background. This is highly important in the search for new cancer drugs as rapidly dividing tissues are more prone to accruing mutations. Large cancer genomic studies are identifying increasing numbers of apparently “significantly-mutated genes” across all major cancer types. However, these genes often include highly unlikely candid........ Read more »

Lawrence MS, Stojanov P, Polak P, Kryukov GV, Cibulskis K, Sivachenko A, Carter SL, Stewart C, Mermel CH, Roberts SA.... (2013) Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature, 499(7457), 214-8. PMID: 23770567  

  • July 24, 2015
  • 03:05 AM
  • 92 views

Autism, asthma and IL-17

by Paul Whiteley in Questioning Answers

"IL-17 was increased in ASD [autism spectrum disorder] children with co-morbid asthma compared to controls with the same condition."That was the conclusion reached by Marjannie Eloi Akintunde and colleagues [1] including some notable names on the authorship list from the University of California, Davis. IL-17 (Interleukin 17) by the way, refers to a group of cytokines - chemical messengers of the immune system - linked to various processes centred on inflammation. Jin & Dong [........ Read more »

Akintunde, M., Rose, M., Krakowiak, P., Heuer, L., Ashwood, P., Hansen, R., Hertz-Picciotto, I., & Van de Water, J. (2015) Increased production of IL-17 in children with autism spectrum disorders and co-morbid asthma. Journal of Neuroimmunology. DOI: 10.1016/j.jneuroim.2015.07.003  

  • July 23, 2015
  • 02:33 PM
  • 109 views

Body fat can send signals to brain, affecting stress response

by Dr. Jekyll in Lunatic Laboratories

The brain’s effect on other parts of the body has been well established. Now, a group of researchers has found that it’s a two-way street: Body fat can send a signal that affects the way the brain deals with stress and metabolism. While the exact nature of those signals remains a mystery, researchers say simply knowing such a pathway exists and learning more about it could help break a vicious cycle: Stress causes a desire to eat more, which can lead to obesity. And too much extra fat can im........ Read more »

de Kloet, A., Krause, E., Solomon, M., Flak, J., Scott, K., Kim, D., Myers, B., Ulrich-Lai, Y., Woods, S., Seeley, R.... (2015) Adipocyte glucocorticoid receptors mediate fat-to-brain signaling. Psychoneuroendocrinology, 110-119. DOI: 10.1016/j.psyneuen.2015.03.008  

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