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  • July 23, 2015
  • 02:58 AM

Sickle cell disease, asthma and behaviour

by Paul Whiteley in Questioning Answers

"Children with sickle cell disease may have increased risk for certain neurodevelopmental diagnoses based on their disease characteristics and associated comorbidities."That was the conclusion reached by Eboni Lance and colleagues [1] following their retrospective chart review including "59 children with sickle cell disease with a documented neurodevelopmental diagnosis, specifically attention deficit hyperactivity disorder [ADHD], attention issues, behavioral issues, executive dysfunction, specific learning disabilities in math, reading, and reading comprehension, intellectual disabilities, developmental delay, fine motor disorders, language disorders, or autism spectrum disorders."Sickle cell disease covers quite a bit of diagnostic ground, describing how haemoglobin - the stuff that transports oxygen from the lungs to the rest of the body - shows specific morphological changes that impact on the shape of red blood cells and onwards their ability to transport oxygen to various tissues. Described as life-long conditions, some of the main symptoms include pain crises and anaemia. They can also increase vulnerability to certain infections too as a result of the effect on the spleen. Risk of cerebral infarction (a type of stroke) is also a known potential issue [2] associated with sickle cell disease.Of particular interest to me was the observation that a reported history of asthma comorbid to sickle cell disease seemed to increase the risk of "behavioral issues" compared with those where no history of asthma was present. This association held true even when the type of sickle cell disease was taken into account and adjustment for other factors such as gender. Quite a few times on this blog I've talked about peer-reviewed data that seems to suggest that a childhood diagnosis of asthma might be linked to an elevated risk of certain behaviours and developmental diagnoses including ADHD (see here and see here) and perhaps to a lesser extent [some] autism (see here and see here). The precise hows and whys of any connection are still up for debate (I'd hazard a guess and say that there are likely to be multiple factors at work) but the evidence is getting stronger for a connection all the time.I'm not necessarily implying that behavioural issues / diagnoses when present alongside sickle cell disease are all due to comorbidity such as asthma. Other science in this area has for example, detailed associations between the presence of sickle cell disease and poorer cognitive functioning [3] as well as attentional issues being present and partially moderated by that heightened risk of stroke [4]. I might even throw in some very preliminary science suggesting that certain types of stroke have also been linked to the presentation of certain types of autism (see here) too.But I do think it is interesting that once again asthma turns up with a potential behaviour link...Music: Lana Del Rey - Video Games.----------[1] Lance EI. et al. Risk Factors for Attention and Behavioral Issues in Pediatric Sickle Cell Disease. Clin Pediatr (Phila). 2015 Jul 6. pii: 0009922815594356.[2] Schatz J. et al. Cognitive functioning in children with sickle cell disease: a meta-analysis. J Pediatr Psychol. 2002 Dec;27(8):739-48.[3] Nabors NA. & Freymuth AK. Attention deficits in children with sickle cell disease. Percept Mot Skills. 2002 Aug;95(1):57-67.----------Lance EI, Comi AM, Johnston MV, Casella JF, & Shapiro BK (2015). Risk Factors for Attention and Behavioral Issues in Pediatric Sickle Cell Disease. Clinical pediatrics PMID: 26149844... Read more »

  • July 22, 2015
  • 09:36 PM

Using low-dose irradiation, researchers can now edit human genes

by Dr. Jekyll in Lunatic Laboratories

For the first time, researchers have employed a gene-editing technique involving low-dose irradiation to repair patient cells. This method, developed by researchers in the Cedars-Sinai Board of Governors Regenerative Medicine Institute, is 10 times more effective than techniques currently in use.... Read more »

Hatada, S., Subramanian, A., Mandefro, B., Ren, S., Kim, H., Tang, J., Funari, V., Baloh, R., Sareen, D., Arumugaswami, V.... (2015) Low-Dose Irradiation Enhances Gene Targeting in Human Pluripotent Stem Cells. Stem Cells Translational Medicine. DOI: 10.5966/sctm.2015-0050  

  • July 22, 2015
  • 12:33 PM

Static synapses on a moving structure: Mind the gap!

by Dr. Jekyll in Lunatic Laboratories

In biology, stability is important. From body temperature to blood pressure and sugar levels, our body ensures that these remain within reasonable limits and do not reach potentially damaging extremes. Neurons in the brain are no different and, in fact, have developed a number of ways to stabilise their electrical activity so as to avoid becoming either overexcitable, potentially leading to epilepsy, or not excitable enough, leading to non functional neurons.... Read more »

  • July 22, 2015
  • 09:36 AM

Video Tip of the Week: PathWhiz for graphical appeal and computational readability

by Mary in OpenHelix

“Pathway diagrams are the road maps of biology.” This is how the folks from PathWhiz begin their recent paper. I came across it in the Nucleic Acids Research web server issue which was recently announced. The NAR database issue in January and the mid-year web server issue are perfectly timed items that I can content […]... Read more »

Pon, A., Jewison, T., Su, Y., Liang, Y., Knox, C., Maciejewski, A., Wilson, M., & Wishart, D. (2015) Pathways with PathWhiz. Nucleic Acids Research, 43(W1). DOI: 10.1093/nar/gkv399  

  • July 22, 2015
  • 08:10 AM

Organs Don’t Always Follow The Plan

by Mark Lasbury in As Many Exceptions As Rules

Do you know where your heart is located? Do you know exactly? Maybe not. It isn’t where most people think it is, and in some people it’s on the opposite side. Situs inversus is a mirror imaging of internal organs, and it’s caused by a faulty motorboat rotor on the embryo.... Read more »

  • July 22, 2015
  • 03:03 AM

Health-related quality of life in CFS/ME

by Paul Whiteley in Questioning Answers

Hvidberg et al (2015) PLoS One. e0132421Two papers are served up for your reading today. Both provide stark peer-reviewed evidence that when it comes to chronic fatigue syndrome (CFS) / myalgic encephalomyelitis (ME), measures of quality of life (QoL) rank this/these condition(s) as potentially causing great suffering compared with population norms and various other states.The first paper is by Michael Falk Hvidberg and colleagues [1] (open-access available here) and details response of Danish participants diagnosed with ME/CFS on the EQ-5D-3L "a generic, self-reported questionnaire with five dimensions: 1) mobility; 2) self-care; 3) usual activities; 4) pain/discomfort; and 5) anxiety/depression."Taking into account various other variables such as gender/sex and education, researchers reported that the "ME/CFS study population is more disabled and socially marginalized than the average population with regards to the subjects of long-term illness, number of illnesses, proportion of disability pensioners and relationships." Further based on the examination of various other data utilising the EQ-5D-3L schedule "the ME/CFS patients of the current study have the lowest, unadjusted EQ-5D-3L measured HRQoL [health-related quality of life] of 20 conditions, thus even worse than multiple sclerosis and stroke." The figure reproduced from the Hvidberg study shows how ME/CFS measures up against those other conditions.Continuing the theme of of health-related QoL are the results published by Anette Winger and colleagues [2] (open-access available here). Detailing the experiences of some 120 Norwegian adolescents, researchers delivered "The Pediatric Quality of Life Inventory™, 4.0 (PedsQL)" among other things to participants and "39 healthy controls (HC)." They concluded that: "adolescents with CFS have a significantly lower quality of life compared with healthy controls, demonstrated by lower overall HRQOL score and sub-score levels for specific HRQOL domains." Further: "Depressive symptoms were found in both adolescents with CFS and HCs, but the score levels were higher among the adolescents with CFS. The low HRQOL level in the CFS group was not explained by depressive symptoms but by having CFS."Bearing in mind potential methodological issues such as the relatively small participant numbers included and the reliance on self-report as a measure of QoL (though not necessarily a bad thing when it comes to an individual's perceived quality of life), there are some pretty stark messages to come from this and other peer-reviewed data on this topic.First and foremost is the idea that a diagnosis of ME/CFS really, really impacts on a person's life. For those suffering (yes, people diagnosed with ME/CFS do suffer) from this disorder, this is not likely to be new news. If you want just one story about how far-reaching the effects of this disorder can be, you can read it here. That a reduction in health-related QoL which follows ME/CFS is likely to be compounded by the 'stigma' built up around the condition(s) should also not be under-estimated. Indeed, only this year (2015) has science really started to put some flesh on the bones that ME/CFS is a 'biological illness' as per the Hornig/Lipkin results (see here) and those from others (see here).Second, and as per some comment in the Winger results, is the idea that 'school functioning' is an important area that is impacted when it comes to adolescent ME/CFS. To quote: "school functioning was the most affected HRQOL domain, with a score level... substantially lower compared with previous studies on CFS patients." I've covered the idea that ME/CFS might show something of a connection to school attendance before on this blog (see here) and how onset of symptoms during such a critical period of development might be something in need of much greater inspection in terms of improving access to education for those diagnosed.Finally is the question of what can be done to improve QoL for those diagnosed with ME/CFS. From a biological perspective, I might draw your attention to various discussions on this blog about the ways and means research has tried to intervene to ameliorate symptoms as a possible means to improve QoL (see here and see here for example). With no medical or clinical advice given or intended, science continues to approach the idea that within the spectrum of conditions probably included under the heading(s) of ME/CFS, there may be viable treatment options available [3] assuming further investigations. I might add that one area that particularly interests me is a possible role for enterovirus in at least some ME/CFS [4] and where this could eventually lead in terms of potential intervention(s). Added to this are the various other ways and means that society can help insofar as improving healthcare access, recognising that the risk of various comorbidity might be heightened following a diagnosis (see here) and ensuring that appropriate adjustments are made for a person in terms of finance, education and/or employment and other areas when a diagnosis is eventually made.In short, more needs to be done to ensure that those diagnosed with ME/CFS are not subject to further health inequality...----------[1] Falk Hvidberg M. et al. The Health-Related Quality of Life for Patients with Myalgic Encephalomyelitis / Chronic Fatigue Syndrome (ME/CFS). PLoS One. 2015 Jul 6;10(7):e0132421.[2] Winger A. et al. Health related quality of life in adolescents with chronic fatigue syndrome: a cross-sectional study. Health Qual Life Outcomes. 2015 Jul 3;13(1):96.[3] Fluge Ø. et al. B-Lymphocyte Depletion in Myalgic Encephalopathy/ Chronic Fatigue Syndrome. An Open-Label Phase II Study with Rituximab Maintenance Treatment. PLoS ONE; 2015: 10(7): e0129898.[4] Chia JK. The role of enterovirus in chronic fatigue syndrome. J Clin Pathol. 2005 Nov;58(11):1126-32----------Falk Hvidberg M, Brinth LS, Olesen AV, Petersen KD, & Ehlers L (2015). The Health-Related Quality of Life for Patients with Myalgic Encephalomyelitis / Chronic Fatigue Syndrome (ME/CFS). PloS one, 10 (7) PMID: 26147503... Read more »

  • July 21, 2015
  • 02:37 PM

Chitotriosidase hurts chitin-makers and indicates inflammatory diseases

by Rosin Cerate in Rosin Cerate

Five years prior to noticing a fungus eating its way across a slice of bacteria-laden agar and setting in motion a marked decline in human mortality from infections, Alexander Fleming smeared a bit of snot on an agar slice and found an enzyme capable of corroding bacterial cell walls. He named this enzyme lysozyme due to its effect on bacterial colonies (lyso- = dissolving). Lysozyme is present in tears, mucus, saliva, and human milk, providing an early line of defence against disease-causing bacterial invaders.Chitotriosidase is one of lysozyme's coworkers, the two being produced together in the tear-making lacrimal glands above the eyes. It's an enzyme that can break apart chitin, a structural biopolymer found in various eukaryotes including fungi, protists, roundworms, insects, and crustaceans. Chitotriosidase is made by neutrophils and activated macrophages (i.e. pathogen-killing white blood cells that are part of the innate immune system), pointing to a role in the body's defence against disease-causing organisms. Supporting this, people who have a genetic mutation that causes them to make an inactive form of chitotriosidase appear to be more susceptible to infections with chitin-containing pathogens (e.g. Candida albicans and Wuchereria bancrofti).Chitotriosidase and lysozyme are probably hanging out on your eyeball right nowOne of the mutations that renders chitotriosidase inactive is common in Asian and Amerindian populations, uncommon in Europeans, and rarely occurs in West and South Africans. This suggests certain factors came into play over the course of human migration that influenced the utility of the enzyme (e.g. reduced need for protection against malaria, which is caused by certain chitin-containing Plasmodium species).Due to the involvement of chitotriosidase-producing white blood cells in the inflammatory response and their propensity to kick it into overdrive in this setting, there tends to be more of the enzyme circulating in the bloodstream of people with inflammatory diseases. Elevated chitotriosidase activity can be used to diagnose and monitor the treatment of rare lipid storage diseases (e.g. Gaucher disease), often via the use of dried blood spot testing. Relatively high concentrations of the enzyme have also been found in folks with multiple sclerosis, atherosclerosis, and interstitial lung diseases. It's thought that chitotriosidase actively participates in the progression of some inflammatory diseases (e.g. by driving fibrosis of the liver and lungs), but it may have a protective function as well (e.g. reducing lung injury due to dust inhalation).ReferencesCho SJ, Weiden MD, Lee CG. 2015. Chitotriosidase in the pathogenesis of inflammation, interstitial lung diseases and COPD. Allergy, Asthma, & Immunology Research 7(1):14-21. [Full text]Da Silva-José TD, Juárez-Rendón KJ, Juárez-Osuna JA, Porras-Dorantes A, Valladares-Salgado A, Cruz M, Gonzalez-Ibarra M, Soto AG, Magaña-Torres MT, Sandoval-Ramírez L, García-Ortiz JE. 2015. Dup-24 bp in the CHIT1 gene in six Mexican Amerindian populations. JIMD Reports 23:123-127. [Full text]Fleming A. 1922. On a remarkable bacteriolytic element found in tissues and secretions. Proceedings of the Royal Society of London B: Biological Sciences 93(653):306-317.Hall AJ, Morroll S, Tighe P, Götz F, Falcone FH. 2008. Human chitotriosidase is expressed in the eye and lacrimal gland and has an antimicrobial spectrum different from lysozyme. Microbes and Infection 10(1):69-78.Kanneganti M, Kamba A, Mizoguchi E. 2012. Role of chitotriosidase (chitinase 1) under normal and disease conditions. Journal of Epithelial Biology & Pharmacology 5:1-9. [Full text]Manno N, Sherratt S, Boaretto F, Coico FM, Camus CE, Campos CJ, Musumeci S, Battisti A, Quinnell RJ, León JM, Vazza G, Mostacciuolo ML, Paoletti MG, Falcone FH. 2014. High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites. Carbohydrate Polymers 113:607-614. [Full text]... Read more »

  • July 21, 2015
  • 12:17 PM

Plants Murder Bugs to Pay Their Bodyguards

by Elizabeth Preston in Inkfish

It's not only carnivorous plants that bugs have to watch out for. Sure, if an ant tumbles into a pitcher plant or a spider stands in the open maw of a Venus flytrap, we know what's coming next. But certain innocent-looking plants—perhaps very many of them, even including ones in your own yard—murder hosts of insects that they have no plans to eat. They lure passing bugs into a slow death, then exchange their corpses with other insects for protection.

One of these plants is the serpentine ... Read more »

  • July 21, 2015
  • 09:20 AM

Living Off Nothing But Coffee

by Bill Sullivan in The 'Scope

Like coffee? Unbelievably, there is a beetle that lives on nothing but coffee! The coffee berry borer consumes toxic levels of caffeine without even getting jittery. Researchers have figured out why, and the answer may lead to a way to stop this pest from destroying the coffee crop.... Read more »

Ceja-Navarro, J., Vega, F., Karaoz, U., Hao, Z., Jenkins, S., Lim, H., Kosina, P., Infante, F., Northen, T., & Brodie, E. (2015) Gut microbiota mediate caffeine detoxification in the primary insect pest of coffee. Nature Communications, 7618. DOI: 10.1038/ncomms8618  

  • July 21, 2015
  • 03:16 AM

Early pregnancy maternal hypothyroxinemia and offspring ADHD symptoms

by Paul Whiteley in Questioning Answers

"Children exposed to maternal hypothyroxinemia in early pregnancy had more ADHD [attention-deficit/hyperactivity disorder] symptoms, independent of confounders. This finding suggests that intrauterine exposure to insufficient thyroid hormone levels influences neurodevelopment in offspring."That was the bottom line reported by Thiago Modesto and colleagues [1] looking at how "mild thyroid hormone insufficiency" in early pregnancy might link into offspring behavioural outcomes a few years down the line. Based on data collected as part of the Generation R initiative - itself the source of previous research looking at the potential involvement of thyroid hormones and offspring outcome - researchers looked at maternal hypothyroxinemia "characterized by low levels of free thyroxine coexisting with reference thyrotropin levels" during pregnancy and how it correlated (or not) with parental report of offspring ADHD type behaviours based on scores on the Conners' Parent Rating Scale-Revised Short Form. They reported something of a possible association where: "Maternal hypothyroxinemia... in early pregnancy was associated with higher scores for ADHD symptoms in children at 8 years of age after adjustments for child and maternal factors (ie, sex, ethnicity, maternal age, maternal educational level, and income)." Interestingly too, when those presenting with thyroid peroxidase antibodies (a marker of autoimmune-related issues) were excluded from the analyses, the results did not differ to any great extent suggesting that the processes of being exposed to too lower a dose of thyroid hormone during early pregnancy seems to be the important factor outside of the possible reasons for such lower levels such as autoimmunity.I've been pretty interested in the various [peer-reviewed] research looking at pregnancy thyroid hormones and offspring developmental outcomes down the years. In amongst that collected research, the idea that ADHD (or ADHD type symptoms) and even the presentation of autism might tie into the pregnancy levels of thyroid hormones has been quite a frequent feature (see here for example). Indeed, other research such as that from Libbe Kooistra and colleagues [2] over 10 years ago, had indicated that "maternal hypothyroxinemia constitutes a serious risk factor for neurodevelopmental difficulties" potentially detectable even as young as 3 weeks of age. Insofar as a role for autoimmunity in relation to pregnancy thyroid functions and offspring outcome, I'm also not quite ready to move on from a possible association as per other findings with autism in mind (see here).Questions remains about the hows and whys of such an association and whether more could be done to extend screening for thyroid hormones particularly during early pregnancy in order to intervene and potentially 'offset' any additional developmental risks to offspring. Without making any clinical recommendations or giving anything like medical advice, I would also be interested to see how such thyroid findings might intersect with the body of work looking at issues with iodine availability (see here) and whether a wider research aim of looking at what happens in cases of pregnancy iodine deficiency in relation to thyroid hormone production and subsequent offspring development and behaviour is merited. It's not as if there isn't already some basis for further research inspection [3] in this area, also potentially extending into [some] autism (see here) too...----------[1] Modesto T. et al. Maternal Mild Thyroid Hormone Insufficiency in Early Pregnancy and Attention-Deficit/Hyperactivity Disorder Symptoms in Children. JAMA Pediatr. 2015 Jul 6.[2] Kooistra L. et al. Neonatal Effects of Maternal Hypothyroxinemia During Early Pregnancy. Pediatrics. 2006; 117: 161-167.[3] Vermiglio F. et al. Attention deficit and hyperactivity disorders in the offspring of mothers exposed to mild-moderate iodine deficiency: a possible novel iodine deficiency disorder in developed countries. J Clin Endocrinol Metab. 2004 Dec;89(12):6054-60.----------Modesto T, Tiemeier H, Peeters RP, Jaddoe VW, Hofman A, Verhulst FC, & Ghassabian A (2015). Maternal Mild Thyroid Hormone Insufficiency in Early Pregnancy and Attention-Deficit/Hyperactivity Disorder Symptoms in Children. JAMA pediatrics PMID: 26146876... Read more »

  • July 20, 2015
  • 12:48 PM

Research investigates whether solar events could trigger birth defects on Earth

by Dr. Jekyll in Lunatic Laboratories

Studies find airplane crews at high altitude are exposed to potentially harmful levels of radiation from cosmic rays. But could these cosmic rays pose hazards even at sea level? In recent years, research has suggested congenital birth defects down on Earth’s surface could be caused by these “solar particle events” — spikes in cosmic rays from the sun that touch off the northern lights and sometimes hamper communications or the electric power grid.... Read more »

  • July 20, 2015
  • 10:00 AM

How Viruses Feign Death to Survive and Thrive

by Jalees Rehman in The Next Regeneration

During the past decade, multiple groups of researchers have come across a fascinating phenomenon by which viruses hijack the phagocytosis process in order to thrive. One of the "Eat Me!" signals for phagocytes is that debris derived from an apoptotic cell is coated by a membrane enriched with phosphatidylserines which are negatively charged molecules. Phosphatidylserines are present in all cells but they are usually tucked away on the inside of cells and are not seen by other cells. When a cell undergoes apoptosis, phosphatidylserines are flipped inside out. When particles or cell fragments present high levels of phosphatidylserines on their outer membranes then a phagocyte knows that it is encountering the remains of a formerly functioning cell that needs to be cleared by phagocytosis.
... Read more »

Amara A, & Mercer J. (2015) Viral apoptotic mimicry. Nature Reviews Microbiology, 13(8), 461-9. PMID: 26052667  

  • July 20, 2015
  • 10:00 AM

Hold your breath: carbon dioxide triggers exploratory behaviour in mosquitoes to help find hosts

by Betty Zou in Eat, Read, Science

Researchers from the California Institute of Technology and the University of Washington show that sensing carbon dioxide triggers mosquitoes to explore visual features that help guide them towards potential hosts. Holding your breath won't really help you from getting bitten though.... Read more »

  • July 20, 2015
  • 03:31 AM

Homocysteine and autism: yet more...

by Paul Whiteley in Questioning Answers

It's been a while since I've discussed the issue of homocysteine - that's homocysteine not homocystine - with autism in mind, so consider this short blog entry a bit of an update to previous discussions (see here and see here).In case you need to know it, homocysteine is an important component of the trans-sulfuration pathway intersecting with both the methione cycle and the folate cycle. Collectively, these biological processes have important functions for various aspects of biology including the process of methylation and the issue of oxidative stress leading into the important role of glutathione (see here) for example.I was brought to this post following the publication of two recent paper from Carmen Puig-Alcaraz and colleagues [1] and from Yu Han and colleagues [2] that both reported on elevated levels of homocysteine to be present in their cohorts of children diagnosed with an autism spectrum disorder (ASD) compared with asymptomatic controls. These findings are pretty much in line with what most other research has reported in this area.Puig-Alcaraz et al reported that alongside an overall increased level of urinary homocysteine in their cohort, there seemed to be something of a relationship between elevated urinary homocysteine with "the severity of the deficit in communication skills" in their participant group. Something that was not seen when looking at the other core areas of autism (social interaction and repetitive/restricted behaviour). I'm intrigued at the prospect that specific traits may be linked to something like elevated levels of homocysteine although recognise the need for far greater scrutiny of this finding with larger cohorts. That this group only measured homocysteine in urine is another issue that needs to be further explored.Han et al report results based on Chinese children. This in itself is an important cohort suggesting that issues with homocysteine might cross geography and ethnicity when it comes to autism on the basis of other studies looking at different populations. Alongside reporting on elevations in homocysteine, researchers also noted that total levels of glutathione and cysteine were lower in the autism group; findings that accord with meta-analyses of glutathione and related compounds with autism in mind (see here). Further: "Hcy [homocysteine] levels correlated significantly with increasing CARS [Childhood Autism Rating Scale] scores and GSSG [oxidized glutathione] levels in children with ASD" with the proviso that further investigations are needed in this area.The peer-reviewed evidence is indeed stacking up for something potentially fundamental at work when it comes to autism and homocysteine. At this stage it would be difficult to tease apart homocysteine alone as being 'linked' to [some] autism given the myriad of other compounds/pathways also potentially implicated as per the literature on the B vitamins and their important links to homocysteine. I'm also wondering whether another relation of one of the B vitamins, methylmalonic acid, that has languished in the autism science desert for far too long might also need resurrecting in future studies on the 'big H' and autism?And yes, screening is important [3]...----------[1] Puig-Alcaraz C. et al. Increased homocysteine levels correlate with the communication deficit in children with autism spectrum disorder. Psychiatry Res. 2015 May 29. pii: S0165-1781(15)00290-5.[2] Han Y. et al. Abnormal transsulfuration metabolism and reduced antioxidant capacity in Chinese children with autism spectrum disorders. International Journal of Developmental Neuroscience. 2015. July 3.[3] Ranjan S. & Nasser JA. Nutritional Status of Individuals with Autism Spectrum Disorders: Do We Know Enough? Adv Nutr. 2015 Jul 15;6(4):397-407.----------Puig-Alcaraz C, Fuentes-Albero M, Calderón J, Garrote D, & Cauli O (2015). Increased homocysteine levels correlate with the communication deficit in children with autism spectrum disorder. Psychiatry research PMID: 26070768Han, Y., Xi, Q., Dai, W., Yang, S., Gao, L., Su, Y., & Zhang, X. (2015). Abnormal transsulfuration metabolism and reduced antioxidant capacity in Chinese children with autism spectrum disorders International Journal of Developmental Neuroscience DOI: 10.1016/j.ijdevneu.2015.06.006... Read more »

  • July 19, 2015
  • 03:38 PM

Advances in Antibiotic Alternatives for Better Health: Promising Research for "Weeding" Bacterial Communities

by Geoffrey Hannigan in Prophage

The discovery and production of antibiotics, which was certainly one of the most significant medical breakthroughs of the twentieth century, has not been without its shortcomings. One shortcoming that has gained recent attention is...... Read more »

  • July 18, 2015
  • 05:08 AM

Person with autism or autistic person?

by Paul Whiteley in Questioning Answers

Although it might seem like a bit of a distraction, I read with interest the paper by Lorcan Kenny and colleagues [1] (open-access) discussing the ways and means that we talk about autism here in Blighty. Some related media on the paper can be found here and here.I mentioned the word 'distraction' because I'm sure that some people (many people?) might be wondering why we are discussing the various ways and means that autism is described when there is so much more for research to do in trying to improve the lives of those diagnosed as being on the autism spectrum. Indeed, saving lives may be more accurate in some cases. I would agree that the autism research agenda is pretty full when it comes to issues such as early identification, experimentally testing the myriad of interventions out there and how the various 'comorbidities' that seem to be over-represented alongside a diagnosis can impact on quality of life and what we can do about them. I'm also, however, of the opinion that the way we talk about autism can also impact on a person's life in important areas such as dignity, self-esteem and self-identity and such viewpoints may have important knock-on effects for people and society at large.The Kenny paper is open-access so it requires little additional rambling from me. Continuing a theme of some of the authors looking to ask various stakeholders (people with autism / autistic people, parents, professionals) about facets of the autism research and practice landscape (see here and see here), they sought views "about the terms they use to describe autism." This was all done via an online survey so one has to be a little bit guarded about the quality of the results obtained, although some 3500 people did complete the survey and had their results included."The results clearly show that people use many terms to describe autism." No real surprises there considering the various groups that responded and the myriad of ways that autism has been described past and present. "The most highly endorsed terms were ‘autism’ and ‘on the autism spectrum’, and to a lesser extent, ‘autism spectrum disorder’, for which there was consensus across community groups." Again, I'd be hard-pressed to say there was anything too novel there.But: "The groups disagreed, however, on the use of several terms. The term ‘autistic’ was endorsed by a large percentage of autistic adults, family members/friends and parents but by considerably fewer professionals; ‘person with autism’ was endorsed by almost half of professionals but by fewer autistic adults and parents." Quite a bit of this seemed to touch on the idea of 'ownership' of the label and "one’s relative distance from autism." Further: "the closer one was to directly experiencing autism hour-to-hour, day-to-day, the more likely the community member endorsed the use of disability-first (rather than person-first) terms."Various themes also emerge in the Kenny paper covering the ideas of 'natural diversity' and the use of "value-laden terms such as ‘disability’, ‘deficit’ or ‘disorder’, which imply that any difficulties experienced by autistic people are a result of them being ‘broken’ in some way." I agree to some extent that autism and the wider concept of the broader autism phenotype (BAP) do indeed root the behavioural presentation of autism as part of the tapestry known as humanity. As someone once said to me 'everything seen in autism is also seen at some stage of typical maturation -- it is the intensity and nature of the behaviour(s) and its effect on a person's life that merits diagnosis'. I'd perhaps also suggest that as other commentators have mentioned, one has to be a little careful not to overdo the whole natural diversity bit as a means to water down what autism can mean for a lot of people in terms of 'disability' and it's sometimes stark effects on quality of life.Finally, and hopefully without upsetting anyone, I do have to take issue with a particular point raised in the Kenny paper: "Many adults were keen to emphasise other qualities of autism, counteracting commonly held beliefs that perpetuate in the media. They stressed that autism is a lifelong condition – that they do not ‘grow out of it’ when they become adults." 'Growing out' of autism is not necessarily the best way of describing the idea that some of the signs and symptoms of autism might change over time but it is a topic that has cropped up on this blog before (see here) under the guise of 'optimal outcome'. As per the findings reported by Helles and colleagues [2] there is an increasing realisation that for some on the autism spectrum, the behavioural presentation is not static and indeed might 'move' someone outside of the diagnostic confines of the label (see here for more explanation). The ways and means that this happens is still up for debate (learned strategies, intervention, maturation?) and even when this happens does not mean a symptom-free, problem-free life (see here); although even here I'm slightly guarded [3] in making too many sweeping generalisations.Perpetuation of the ideas that (a) all autism is the same and (b) all autism is fixed and 'lifelong' however does little to forward the agenda of (neuro)diversity and the full meaning of the important sentence: 'if you've met one person with autism, you've me one person with autism'.More than that though, they don't seem to be supported by the available peer-reviewed science...Music: Nirvana - About A Girl.----------[1] Kenny L. et al. Which terms should be used to describe autism? Perspectives from the UK autism community. Autism. 2015. July 1.[2] Helles A. et al. Asperger syndrome in males over two decades: stability and predictors of diagnosis. Journal of Child Psychology and Psychiatry. 2014. 3 October.[3] Orinstein A. et al. Psychiatric Symptoms in Youth with a History of Autism and Optimal Outcome. J Autism Dev Disorder. 2015. July 9.----------Kenny L, Hattersley C, Molins B, Buckley C, Povey C, & Pellicano E (2015). Which terms should be used to describe autism? Perspectives from the UK autism community. Autism : the international journal of research and practice PMID: 26134030... Read more »

Kenny L, Hattersley C, Molins B, Buckley C, Povey C, & Pellicano E. (2015) Which terms should be used to describe autism? Perspectives from the UK autism community. Autism : the international journal of research and practice. PMID: 26134030  

  • July 17, 2015
  • 01:46 PM

Cholesterol metabolism in immune cells linked to HIV progression, may lead to new therapy

by Dr. Jekyll in Lunatic Laboratories

Enhanced cholesterol metabolism in certain immune cells may help some people infected with HIV naturally control disease progression, according to new research. The findings provide a basis for potential development of new approaches to control HIV infection by regulating cellular cholesterol metabolism.... Read more »

Rappocciolo, G., Jais, M., Piazza, P., Reinhart, T., Berendam, S., Garcia-Exposito, L., Gupta, P., & Rinaldo, C. (2014) Alterations in Cholesterol Metabolism Restrict HIV-1 Trans Infection in Nonprogressors. mBio, 5(3). DOI: 10.1128/mBio.01031-13  

  • July 17, 2015
  • 09:26 AM

Here It Is: The World's Oldest Sperm

by Elizabeth Preston in Inkfish

Doesn't look a day over 40 million, right? This fossilized sperm and its compatriots turned up in a 50-million-year-old worm cocoon in Antarctica. And it has some pretty exciting implications for scientists—aside from the obvious news that we're looking at a loser of an eons-old swimming race.

Ordinarily, squishy worms don't wriggle into the fossil record. Their boneless bodies tend to disappear from history, just like the soft parts of animals with skeletons. That's why scientists don't ... Read more »

Bomfleur, B., Mörs, T., Ferraguti, M., Reguero, M., & McLoughlin, S. (2015) Fossilized spermatozoa preserved in a 50-Myr-old annelid cocoon from Antarctica. Biology Letters, 11(7), 20150431. DOI: 10.1098/rsbl.2015.0431  

  • July 17, 2015
  • 09:00 AM

Distinct roles for VHL and hypoxia in RCC gene expression and metabolism

by Danielle Stevenson in BHD Research Blog

As discussed in last week’s blog renal cell carcinoma (RCC) cells show altered metabolism favouring lactate fermentation as the major energy source. Such metabolic changes can be a response to hypoxia or mutations in genes, such as VHL, that disrupt HIFα-proteasomal degradation. HIF signalling, directly and indirectly, regulates over 2% of human genes including those involved in angiogenesis, survival, proliferation and metabolism (Manalo et al., 2005). Hypoxia and VHL-loss are generally thought to result in the same changes in gene and protein expression, however, Leisz et al., (2015) have found differential effects in RCC cellular models.... Read more »

  • July 17, 2015
  • 04:41 AM

Diagnosing autism: not to be sniffed at

by Paul Whiteley in Questioning Answers

All rights to Rozenkrantz et al (2015)'Sniffing could provide autism test' went the BBC headline as the work of Liron Rozenkrantz and colleagues [1] (open-access available here) provided some media fodder and with it ideas "implying a mechanistic link between the underpinnings of olfaction and ASD [autism spectrum disorder] and directly linking an impaired IAM [internal action model] with impaired social abilities."Looking at the sniff response in 36 children - 18 with autism and 18 asymptomatic (typically developing, TD) - researchers created a wonderful contraption comprising of "a custom-designed double-barreled pediatric nasal cannula that both delivered odors from a computer-controlled air-dilution olfactometer and measured the nasal airflow of the sniff response." With all credit to the authors, the attached picture to this post gives you an idea of what it looked like and how the red tube carried various odours up the nose, and the green tube measured changes in breathing patterns.Researchers reported that the sniff response - whether or not we take a big sniff of nice smells or a not-so-big sniff of not-so-nice smells - was altered in the group comprising children with autism. "TD children altered their sniff to account for odorant properties within 305 ms of sniff onset." But: "ASD children had a profoundly altered sniff response, sniffing equally regardless of odor valance." So even when faced with the smell of sour milk or rotting fish against more pleasant odours of rose or shampoo, children with autism did not seem to modulate their sniffing behaviour."These results imply an altered olfactory response that is evident in children with ASD and is more pronounced with increased autism severity." Bearing in mind the small participant numbers, the results of the sniffing test seemed to tally with some of the ADOS scores obtained for participants as a marker for autism severity; specifically: "the sniff response remained highly predictive of the social affect component of ADOS."These are interesting results calling out for further [independent] replication. The idea that the 'nose knows' with autism in mind is not necessarily a new one (see here) but put in the context of a potential biological tests for at least some autism, should be investigated further.Music: Guns N' Roses - Sweet Child O' Mine.----------[1] Rozenkrantz L. et al. A Mechanistic Link between Olfaction and Autism Spectrum Disorder. Current Biology. 2015. 2 July.----------Rozenkrantz, L., Zachor, D., Heller, I., Plotkin, A., Weissbrod, A., Snitz, K., Secundo, L., & Sobel, N. (2015). A Mechanistic Link between Olfaction and Autism Spectrum Disorder Current Biology DOI: 10.1016/j.cub.2015.05.048... Read more »

Rozenkrantz, L., Zachor, D., Heller, I., Plotkin, A., Weissbrod, A., Snitz, K., Secundo, L., & Sobel, N. (2015) A Mechanistic Link between Olfaction and Autism Spectrum Disorder. Current Biology. DOI: 10.1016/j.cub.2015.05.048  

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