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
"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  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 »
Bonander C, Beckman L, Janson S, & Jernbro C. (2016) Injury risks in schoolchildren with attention-deficit/hyperactivity or autism spectrum disorder: Results from two school-based health surveys of 6- to 17-year-old children in Sweden. Journal of safety research, 49-56. PMID: 27620934
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.
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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
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:/
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
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.
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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
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 »
Chen H, Lorton B, Gupta V, & Shechter D. (2016) A TGFβ-PRMT5-MEP50 axis regulates cancer cell invasion through histone H3 and H4 arginine methylation coupled transcriptional activation and repression. Oncogene. PMID: 27270440
Chi P, Allis CD, & Wang GG. (2010) Covalent histone modifications--miswritten, misinterpreted and mis-erased in human cancers. Nature reviews. Cancer, 10(7), 457-69. PMID: 20574448
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
Cha B, & Jho EH. (2012) Protein arginine methyltransferases (PRMTs) as therapeutic targets. Expert opinion on therapeutic targets, 16(7), 651-64. PMID: 22621686
Yang XJ, & Seto E. (2008) Lysine acetylation: codified crosstalk with other posttranslational modifications. Molecular cell, 31(4), 449-61. PMID: 18722172
Greenblatt SM, Liu F, & Nimer SD. (2016) Arginine methyltransferases in normal and malignant hematopoiesis. Experimental hematology, 44(6), 435-41. PMID: 27026282
Wilczek C, Chitta R, Woo E, Shabanowitz J, Chait BT, Hunt DF, & Shechter D. (2011) Protein arginine methyltransferase Prmt5-Mep50 methylates histones H2A and H4 and the histone chaperone nucleoplasmin in Xenopus laevis eggs. The Journal of biological chemistry, 286(49), 42221-31. PMID: 22009756
Ho MC, Wilczek C, Bonanno JB, Xing L, Seznec J, Matsui T, Carter LG, Onikubo T, Kumar PR, Chan MK.... (2013) Structure of the arginine methyltransferase PRMT5-MEP50 reveals a mechanism for substrate specificity. PloS one, 8(2). PMID: 23451136
Burgos ES, Wilczek C, Onikubo T, Bonanno JB, Jansong J, Reimer U, & Shechter D. (2015) Histone H2A and H4 N-terminal tails are positioned by the MEP50 WD repeat protein for efficient methylation by the PRMT5 arginine methyltransferase. The Journal of biological chemistry, 290(15), 9674-89. PMID: 25713080
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
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  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
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 »
Tsuboi, M., & Sakai, Y. (2016) Polygamous mating system and protogynous sex change in the gobiid fish Fusigobius neophytus. Journal of Ethology, 34(3), 263-275. DOI: 10.1007/s10164-016-0472-x
"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 , 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
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 »
Bergner, R. (2016) What is behavior? And why is it not reducible to biological states of affairs?. Journal of Theoretical and Philosophical Psychology, 36(1), 41-55. DOI: 10.1037/teo0000026
Levitis, D., Lidicker, W., & Freund, G. (2009) Behavioural biologists do not agree on what constitutes behaviour. Animal Behaviour, 78(1), 103-110. DOI: 10.1016/j.anbehav.2009.03.018
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.
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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
Today's post is a bit of a mash-up including two paper: the first from Emanuela Balestrieri and colleagues  (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  (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
D'Agati E, Pitzianti M, Balestrieri E, Matteucci C, Sinibaldi Vallebona P, & Pasini A. (2016) First evidence of HERV-H transcriptional activity reduction after methylphenidate treatment in a young boy with ADHD. The new microbiologica, 39(3), 237-9. PMID: 27602426
iPS cell-derived retinal cells have been successfully transplanted from one money to another without need of immunosuppressant drugs.... Read more »
Sugita S, Iwasaki Y, Makabe K, Kamao H, Mandai M, Shiina T, Ogasawara K, Hirami Y, Kurimoto Y, & Takahashi M. (2016) Successful Transplantation of Retinal Pigment Epithelial Cells from MHC Homozygote iPSCs in MHC-Matched Models. Stem cell reports. PMID: 27641649
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.
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Goard, M., Pho, G., Woodson, J., & Sur, M. (2016) Distinct roles of visual, parietal, and frontal motor cortices in memory-guided sensorimotor decisions. eLife. DOI: 10.7554/eLife.13764
'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 . 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 »
Ozer PA, Kabatas EU, Bicer BK, Bodur S, & Kurtul BE. (2016) Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder: Results of a Parent Survey by Ophthalmologists. Seminars in ophthalmology, 1-6. PMID: 27599387
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 »
Kammerer-Jacquet SF, Crouzet L, Brunot A, Dagher J, Pladys A, Edeline J, Laguerre B, Peyronnet B, Mathieu R, Verhoest G.... (2016) Independent association of PD-L1 expression with non-inactivated VHL clear cell renal cell carcinoma - a finding with therapeutic potential. International journal of cancer. PMID: 27623354
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 »
Lee, H., Yun, S., Jang, S., Kim, G., & Kim, J. (2015) Bioremediation of Polycyclic Aromatic Hydrocarbons in Creosote-Contaminated Soil by Peniophora incarnata KUC8836. Bioremediation Journal, 19(1), 1-8. DOI: 10.1080/10889868.2014.939136
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
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." Today, I'm continuing that research theme as the findings from Zhang Lin and colleagues  caught my eye concluding that: "There is an association between epilepsy and SAD [systemic autoimmune diseases], which ........ Read more »
Lin Z, Si Q, & Xiaoyi Z. (2016) Association between epilepsy and systemic autoimmune diseases: A meta-analysis. Seizure, 160-166. PMID: 27592469
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.
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Kearns, C., Schmidt, L., & Glantz, S. (2016) Sugar Industry and Coronary Heart Disease Research. JAMA Internal Medicine. DOI: 10.1001/jamainternmed.2016.5394
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