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  • September 30, 2016
  • 06:12 AM
  • 11 views

BHD at the International Rare Lung Diseases Research Conference 2016

by Joana Guedes in BHD Research Blog

The International Rare Lung Diseases Research Conference (RLDC) and LAM symposium were held last week over four days. They brought together clinicians, scientists, patients and families to Cincinnati to review research developments in rare lung disease and to promote dialogue between the research community and patients. Next week’s blog will focus on the highlights of the entire conference. This week the blog is focused on the BHD syndrome specific talk and poster.... Read more »

Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B.... (2007) Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. American journal of respiratory and critical care medicine, 175(10), 1044-53. PMID: 17322109  

  • September 30, 2016
  • 03:08 AM
  • 17 views

Injury risk and ADHD

by Paul Whiteley in Questioning Answers

"The results indicate that there is an elevated injury risk among Swedish schoolchildren with ADHD [attention-deficit hyperactivity disorder] but not for children with ASD [autism spectrum disorder]."So went the findings reported by Carl Bonander and colleagues [1] providing yet more important data on how a diagnosis of ADHD might be something that confers quite a bit of additional risk for all-manner of different negative outcomes.I've hinted at this important topic before as per........ Read more »

  • September 29, 2016
  • 01:36 PM
  • 21 views

Children could point the way to new HIV treatments

by Dr. Jekyll in Lunatic Laboratories

Children with HIV who can resist the disease progressing could point the way to new treatments for HIV infection that are more widely applicable to infected adults and children alike, an international team of researchers has found.


... Read more »

Muenchhoff, M., Adland, E., Karimanzira, O., Crowther, C., Pace, M., Csala, A., Leitman, E., Moonsamy, A., McGregor, C., Hurst, J.... (2016) Nonprogressing HIV-infected children share fundamental immunological features of nonpathogenic SIV infection. Science Translational Medicine, 8(358), 358-358. DOI: 10.1126/scitranslmed.aag1048  

  • September 29, 2016
  • 12:00 PM
  • 20 views

Rat Boggling: Simultaneously Freaky and Adorable

by Awwducational in Awwducational

When extremely happy or relaxed, rats will display a behavior known as boggling where their eyes vibrate and bulge. ... Read more »

Froberg-fejko, Karen. (2014) Give a rat a bone: satisfying rodents' need to gnaw. Lab animal. info:/

  • September 29, 2016
  • 06:58 AM
  • 31 views

The Adult Psychiatric Morbidity Survey (APMS) 2014 and autism

by Paul Whiteley in Questioning Answers

They've finally arrived. The results of the English Adult Psychiatric Morbidity Survey 2014 have been published by NHS Digital (yes, our Nation's healthcare services has a digital arm) and when it comes to autism (adult autism 18 years+), some rather peculiar statistics have been produced.OK, for those who want/need a quick heads-up on all-things Adult Psychiatric Morbidity Survey (APMS), I'll refer you to a previous post I wrote covering this prevalence survey with autism in mind........ Read more »

Brugha TS, McManus S, Smith J, Scott FJ, Meltzer H, Purdon S, Berney T, Tantam D, Robinson J, Radley J.... (2012) Validating two survey methods for identifying cases of autism spectrum disorder among adults in the community. Psychological medicine, 42(3), 647-56. PMID: 21798110  

  • September 28, 2016
  • 01:51 PM
  • 47 views

Research team may have observed building blocks of memories in the brain

by Dr. Jekyll in Lunatic Laboratories

A team of researchers has observed what they believe are the building blocks of memories in a mouse brain. In their paper, the researchers describe how they caused certain neurons to become illuminated when they fired, allowing them to watch in real time as memories were made and then later as they were replayed while the mouse was sitting idle.

... Read more »

Malvache, A., Reichinnek, S., Villette, V., Haimerl, C., & Cossart, R. (2016) Awake hippocampal reactivations project onto orthogonal neuronal assemblies. Science, 353(6305), 1280-1283. DOI: 10.1126/science.aaf3319  

  • September 28, 2016
  • 11:10 AM
  • 30 views

When the writing is wrong: PRMT5 histone arginine methylation promotes invasivity and metastasis in a range of human cancers

by David Schecter in EpiBeat

Cancer metastasis occurs when cancer cells leave a primary tumor and invade other tissues. Generally, this leads to a poor prognosis for patients. Underlying epigenetic mechanisms of tumor progression are poorly understood but are of great interest for developing new approaches of treatment in the clinic. Cancer etiology is highly correlated with alterations in the histone code1-5 and protein methyltransferases are frequently dysregulated in cancer, implicating them as compelling novel targets f........ Read more »

Stopa N, Krebs JE, & Shechter D. (2015) The PRMT5 arginine methyltransferase: many roles in development, cancer and beyond. Cellular and molecular life sciences : CMLS, 72(11), 2041-59. PMID: 25662273  

Sebova K, & Fridrichova I. (2010) Epigenetic tools in potential anticancer therapy. Anti-cancer drugs, 21(6), 565-77. PMID: 20436342  

Yang, Y., & Bedford, M. (2012) Protein arginine methyltransferases and cancer. Nature Reviews Cancer, 13(1), 37-50. DOI: 10.1038/nrc3409  

Greenblatt SM, Liu F, & Nimer SD. (2016) Arginine methyltransferases in normal and malignant hematopoiesis. Experimental hematology, 44(6), 435-41. PMID: 27026282  

Chan-Penebre E, Kuplast KG, Majer CR, Boriack-Sjodin PA, Wigle TJ, Johnston LD, Rioux N, Munchhof MJ, Jin L, Jacques SL.... (2015) A selective inhibitor of PRMT5 with in vivo and in vitro potency in MCL models. Nature chemical biology, 11(6), 432-7. PMID: 25915199  

Liu F, Cheng G, Hamard PJ, Greenblatt S, Wang L, Man N, Perna F, Xu H, Tadi M, Luciani L.... (2015) Arginine methyltransferase PRMT5 is essential for sustaining normal adult hematopoiesis. The Journal of clinical investigation, 125(9), 3532-44. PMID: 26258414  

Ikushima H, & Miyazono K. (2010) TGFbeta signalling: a complex web in cancer progression. Nature reviews. Cancer, 10(6), 415-24. PMID: 20495575  

Lamouille, S., Xu, J., & Derynck, R. (2014) Molecular mechanisms of epithelial–mesenchymal transition. Nature Reviews Molecular Cell Biology, 15(3), 178-196. DOI: 10.1038/nrm3758  

  • September 28, 2016
  • 02:55 AM
  • 46 views

Postural tachycardia syndrome and gluten?

by Paul Whiteley in Questioning Answers

Please use your full stops wisely.I believe that this is the first time that I've talked about postural tachycardia syndrome (PoTS) on this blog as I bring to your attention some rather intriguing findings reported by Hugo Penny and colleagues [1] on how PoTS and gluten-related disorders might not be unstrange diagnostic bedfellows.PoTS by the way, describes symptoms where standing upright / sitting down induces dizziness, fainting and other symptoms. As well as being quite prevalent in a c........ Read more »

Penny, H., Aziz, I., Ferrar, M., Atkinson, J., Hoggard, N., Hadjivassiliou, M., West, J., & Sanders, D. (2016) Is there a relationship between gluten sensitivity and postural tachycardia syndrome?. European Journal of Gastroenterology , 1. DOI: 10.1097/MEG.0000000000000740  

  • September 27, 2016
  • 03:09 PM
  • 61 views

Sex changes in nature

by Emily Makowski in Sextraordinary!

We might think of animal mating being as simple as 1 male and 1 female, like on Noah's Ark. But many types of fish undergo sex changes throughout their lives. My goal is to open people's eyes to the diversity among sex in animals.... Read more »

  • September 27, 2016
  • 02:55 AM
  • 63 views

Neurotensin, intestinal inflammation and autism?

by Paul Whiteley in Questioning Answers

"Elevated peripheral pro-NT [neurotensin] levels reflect more severe forms of active celiac disease, indicating a potential role of NT in intestinal inflammation."The suggestion, from Caroline Montén and colleagues [1], that the neuropeptide called neurotensin might play a role in paediatric coeliac disease is an interesting one that caught my eye recently. Interesting not only because of the potential implications for the archetypal 'gluten-causing' autoimmune condition cal........ Read more »

Montén C, Torinsson Naluai Å, & Agardh D. (2016) Role of pro-neurotensin as marker of paediatric celiac disease. Clinical and experimental immunology. PMID: 27612962  

  • September 26, 2016
  • 07:04 PM
  • 63 views

What is behavior? Baby don’t ask me, don’t ask me, no more

by Piter Boll in Earthling Nature

by Piter Kehoma Boll One of the most difficult concepts to explain in biology is certainly life itself. But I am not here today to talk about the definition of life, but rather of another puzzling concept: behavior. Behavior is the … Continue reading →... Read more »

  • September 26, 2016
  • 01:35 PM
  • 89 views

Why do more men than women commit suicide?

by Dr. Jekyll in Lunatic Laboratories

Why do more men die when they attempt suicide than women? The answer could lie in four traits, finds scientists. There are over 6,000 British lives lost to suicide each year, and nearly 75 per cent of those are male. However, research has found women are more likely to suffer from depression, and to attempt to take their own life.

... Read more »

Deshpande, G., Baxi, M., Witte, T., & Robinson, J. (2016) A Neural Basis for the Acquired Capability for Suicide. Frontiers in Psychiatry. DOI: 10.3389/fpsyt.2016.00125  

  • September 26, 2016
  • 02:48 AM
  • 79 views

On HERV-H, autism, ADHD and methylphenidate?

by Paul Whiteley in Questioning Answers

Today's post is a bit of a mash-up including two paper: the first from Emanuela  Balestrieri and colleagues [1] (open-access available here) talking about "increased HERV-H [Human Endogenous Retroviruses - H] transcriptional activity in all autistic patients" included in their cohort (author's words not mine) and the second from D'Agati and colleagues [2] (open-access available here) describing "the reduction of HERV-H expression and the significant improvement of ADHD&n........ Read more »

Balestrieri E, Cipriani C, Matteucci C, Capodicasa N, Pilika A, Korca I, Sorrentino R, Argaw-Denboba A, Bucci I, Miele MT.... (2016) Transcriptional activity of human endogenous retrovirus in Albanian children with autism spectrum disorders. The new microbiologica, 39(3), 228-31. PMID: 27602423  

  • September 25, 2016
  • 09:29 PM
  • 90 views

Big news in iPS cell transplants

by adam phillips in It Ain't Magic

iPS cell-derived retinal cells have been successfully transplanted from one money to another without need of immunosuppressant drugs.... Read more »

  • September 25, 2016
  • 02:57 PM
  • 105 views

Linking perception to action

by Dr. Jekyll in Lunatic Laboratories

Researchers studying how the brain uses perception of the environment to guide action offer a new understanding of the neural circuits responsible for transforming sensation into movement.

... Read more »

  • September 24, 2016
  • 03:26 AM
  • 113 views

Correcting ophthalmic problems in autism

by Paul Whiteley in Questioning Answers

'Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder?' went the title of the paper by Pinar Ozer and colleagues [1]. Yes, it may very well do was the answer (but with certain caveats and the requirement for a lot more research in this area).Strabismus, a condition where the eyes don't line up in the same direction, can sometime have some quite noticeable effects on a person's vision and indeed, has been linked to various other non-vision related sympto........ Read more »

  • September 23, 2016
  • 04:14 PM
  • 105 views

PD-L1 expression associates with non-inactivated VHL ccRCC

by Joana Guedes in BHD Research Blog

The loss of the of the tumor suppressor gene VHL and the subsequent deregulation of VHL/HIF/VEGF signalling are known to play a role in development of clear cell renal cell carcinoma (ccRCC). Renal tumours associated with BHD syndrome are histologically diverse and include a percentage of ccRCC (Pavlovich et al., 2002). Anti-angiogenic therapies targeting the VHL/HIF/VEGF pathway have emerged in past years (Rini et al., 2006) but the development of resistance to these therapeutic agents is leadi........ Read more »

  • September 23, 2016
  • 07:00 AM
  • 119 views

Friday Fellow: Rosy Crust

by Piter Boll in Earthling Nature

by Piter Kehoma Boll If you are walking through a forest in Europe you may find the bark of some trees covered by a thin rosy or orange crust. Commonly known as rosy crust, its scientific name is Peniophora incarnata. As … Continue reading →... Read more »

Suay, I., Arenal, F,, Asensio, F. J., Basilio, A., Cabello, M. A., Díez, M. T., García, J. B., González del Val, A., Gorrochategui, J., Hernández, P.... (2000) Screening of basidiomycetes for antimicrobial activities. Antonie van Leeuwenhoek, 78(2), 129-140. DOI: 10.1023/A:1026552024021  

  • September 23, 2016
  • 02:42 AM
  • 115 views

Epilepsy and systemic autoimmune diseases: birds of a feather?

by Paul Whiteley in Questioning Answers

A couple of years back on this blog I talked about some rather intriguing research suggesting that epilepsy and autoimmune disease might not be unstrange diagnostic bedfellows (see here) and that a "potential role of autoimmunity must be given due consideration in epilepsy." [1]Today, I'm continuing that research theme as the findings from Zhang Lin and colleagues [2] caught my eye concluding that: "There is an association between epilepsy and SAD [systemic autoimmune diseases], which ........ Read more »

  • September 22, 2016
  • 03:14 PM
  • 143 views

Historical analysis examines sugar industry role in heart disease research

by Dr. Jekyll in Lunatic Laboratories

Using archival documents, a new report examines the sugar industry's role in coronary heart disease research and suggests the industry sponsored research to influence the scientific debate to cast doubt on the hazards of sugar and to promote dietary fat as the culprit in heart disease.

... Read more »

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