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 .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 hea........ Read more »
Sjoberg EA. (2017) Logical fallacies in animal model research. Behavioral and Brain Functions. info:/10.1186/s12993-017-0121-8
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 talk........ 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
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 »
Zuo Z, & Liu J. (2016) Cas9-catalyzed DNA Cleavage Generates Staggered Ends: Evidence from Molecular Dynamics Simulations. Scientific reports, 37584. PMID: 27874072
Marzinek JK, Holdbrook DA, Huber RG, Verma C, & Bond PJ. (2016) Pushing the Envelope: Dengue Viral Membrane Coaxed into Shape by Molecular Simulations. Structure (London, England : 1993), 24(8), 1410-20. PMID: 27396828
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 examined frontal EEG recordings from four critically ill patients at the point where their life support was withdrawn.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
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 »
Gijezen LM, Vernooij M, Martens H, Oduber CE, Henquet CJ, Starink TM, Prins MH, Menko FH, Nelemans PJ, & van Steensel MA. (2014) Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial. PloS one, 9(6). PMID: 24910976
The paper by Christian Pulcini and colleagues  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]" , some of the findings have instead attracted crit........ Read more »
Pulcini CD, Zima BT, Kelleher KJ, & Houtrow AJ. (2017) Poverty and Trends in Three Common Chronic Disorders. Pediatrics. PMID: 28193790
"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  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........ 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
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........ 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
Proudhon C, Duffié R, Ajjan S, Cowley M, Iranzo J, Carbajosa G, Saadeh H, Holland ML, Oakey RJ, Rakyan VK.... (2012) Protection against de novo methylation is instrumental in maintaining parent-of-origin methylation inherited from the gametes. Molecular cell, 47(6), 909-20. PMID: 22902559
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
Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simón C, Moore H, Harness JV.... (2014) Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome research, 24(4), 554-69. PMID: 24402520
Sanchez-Delgado M, Martin-Trujillo A, Tayama C, Vidal E, Esteller M, Iglesias-Platas I, Deo N, Barney O, Maclean K, Hata K.... (2015) Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting. PLoS genetics, 11(11). PMID: 26544189
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
The paper by Supekar and colleagues  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 condi........ 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
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 »
Kaznatcheev, A., Vander Velde, R., Scott, J.G., & Basanta, D. (2017) Cancer treatment scheduling and dynamic heterogeneity in social dilemmas of tumour acidity and vasculature. British Journal of Cancer. PMID: 28183139
Humans have been fighting our internal clocks ever since we invented sitting around a campfire. We have powerful natural rhythms that keep us on a 24-hour cycle; if you've ever been steamrollered by jet lag after an intercontinental flight, you know how powerful those rhythms are. But we muffle them with caffeine, alarm clocks, and electric lights. It's easy to undo the damage, though. One weekend of camping can do the trick—and it'll even cure your case of the Mondays.
In 2013, rese........ Read more »
Stothard ER, McHill AW, Depner CM, Birks BR, Moehlman TM, Ritchie HK, Guzzetti JR, Chinoy ED, LeBourgeois MK, Axelsson J.... (2017) Circadian Entrainment to the Natural Light-Dark Cycle across Seasons and the Weekend. Current biology : CB, 27(4), 508-513. PMID: 28162893
"Adults with ID [intellectual disability] experience premature mortality and over-representation of potentially avoidable deaths."The paper by Julian Trollor and colleagues  (open-access available here) provides some sombre reading today, as once again the topic of early mortality is raised on this blog. Looking at several measures - the "Age Standardised Mortality Rate (ASMR), Comparative Mortality Figure (CMF), years of productive life lost (YPLL) and proportion of deaths with pot........ Read more »
Trollor J, Srasuebkul P, Xu H, & Howlett S. (2017) Cause of death and potentially avoidable deaths in Australian adults with intellectual disability using retrospective linked data. BMJ open, 7(2). PMID: 28179413
Where are the mammillary bodies?
The mammillary bodies are part of the diencephalon, which is a collection of structures found between the brainstem and cerebrum. The diencephalon includes the hypothalamus, and the mammillary bodies are found on the inferior surface of the hypothalamus (the side of the hypothalamus that is closer to the brainstem). The mam........ Read more »
"This large study showed a prospective association of infant muscle tone with autistic traits in childhood."So said the findings reported by Fadila Serdarevic and colleagues  who, looking at nearly 3000 children, were able to assess early motor development and muscle tone "between ages 2 and 5 months" and later parental ratings of autistic traits in children at 6 years of age. Said autistic traits were surveyed using the "the Social Responsiveness Scale (SRS) and the Pervasive Developmental P........ Read more »
Serdarevic F, Ghassabian A, van Batenburg-Eddes T, White T, Blanken LM, Jaddoe VW, Verhulst FC, & Tiemeier H. (2017) Infant muscle tone and childhood autistic traits: A longitudinal study in the general population. Autism research : official journal of the International Society for Autism Research. PMID: 28181411
Although primarily looking at the potential predictors of language outcome, the study results published by Cristina McKean and colleagues  revealed the rather important title heading this blog entry: "Almost 19% of children (22/1204;18.9%) met criteria for low language at 7 years."The source of the finding was a cohort of some 1900 infants "recruited at age 8 to 10 months" who were followed until aged 7 years old and subject to quite a bit of research inspection looking at "early life factors........ Read more »
McKean C, Reilly S, Bavin EL, Bretherton L, Cini E, Conway L, Cook F, Eadie P, Prior M, Wake M.... (2017) Language Outcomes at 7 Years: Early Predictors and Co-Occurring Difficulties. Pediatrics. PMID: 28179482
It’s been a while since I’ve broken down some studies for you, so I took on a big one.I’m sure you’ve heard of coral bleaching. What is it? Why does it happen? Why does it matter? To start off, you need to know a little bit more about the individuals that make up a head (fan, whip, etc.): the polyp. Coral polyps look like tiny plants but are actually tiny animals (less than ½ an inch in diameter). They produce calcium carbonate to create a protective shell or skeleton that, when thousan........ Read more »
Anthony KR, Kline DI, Diaz-Pulido G, Dove S, & Hoegh-Guldberg O. (2008) Ocean acidification causes bleaching and productivity loss in coral reef builders. Proceedings of the National Academy of Sciences of the United States of America, 105(45), 17442-6. PMID: 18988740
Perry CT, & Morgan KM. (2017) Bleaching drives collapse in reef carbonate budgets and reef growth potential on southern Maldives reefs. Scientific reports, 40581. PMID: 28084450
by Piter Kehoma Boll It’s time to give more space for parasites, including human parasites! So today our fellow comes right from the stool of many mammals, including humans. Its name is Balantidium coli, or B. coli for short. B. coli is … Continue reading →... Read more »
"At 9 months of age, infants developing ASD [autism spectrum disorder] were more likely to fail to orient to their names, persisting through 24 months."So said the findings reported by Meghan Miller and colleagues  investigating an often over-looked but typically informative question relevant to childhood autism screening and assessment: the response to name. Anyone who knows a little about instruments such as the ADOS (Autism Diagnostic Observation Schedule) will already know ........ Read more »
Miller M, Iosif AM, Hill M, Young GS, Schwichtenberg AJ, & Ozonoff S. (2017) Response to Name in Infants Developing Autism Spectrum Disorder: A Prospective Study. The Journal of pediatrics. PMID: 28162768
"Among adult patients with epilepsy of unknown etiology, a significant minority had detectable serum Abs [autoantibodies] suggesting an autoimmune etiology."So said the findings reported by Divyanshu Dubey and colleagues  continuing a research theme previously discussed on this blog (see here) on how epilepsy / seizure-type disorder(s) for some might have more to do with immune function than many people might think.OK, a brief bit of background: epilepsy is a blanket term cover........ Read more »
Dubey D, Alqallaf A, Hays R, Freeman M, Chen K, Ding K, Agostini M, & Vernino S. (2017) Neurological Autoantibody Prevalence in Epilepsy of Unknown Etiology. JAMA neurology. PMID: 28166327
Kristin Walovich holds the newly described species of ghost shark
Photo Credit: Kristin Walovich
Researchers recently announced the discovery of a new species of ghost shark, Hydrolagus erithacus. Ghost sharks - which aren’t actually sharks but instead their closest living relatives - are an extraordinarily rare sighting. Actually, it was just a few months ago, when a ghost shark was filmed... Read more »
Walovich KA, Ebert DA, & Kemper JM. (2017) Hydrolagus erithacus sp. nov. (Chimaeriformes: Chimaeridae), a new species of chimaerid from the southeastern Atlantic and southwestern Indian oceans. Zootaxa, 4226(4). PMID: 28187604
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