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  • April 7, 2017
  • 06:22 AM
  • 203 views

Novel FLCN mutations in Chinese patients

by Joana Guedes in BHD Research Blog

The gene FLCN is inactivated in individuals with BHD syndrome. The FLCN gene encodes the protein Folliculin, which is a putative tumour suppressor. Over 150 different FLCN mutations have been identified, most of which are likely to be pathogenic (LOVD-hosted FLCN mutation database). The majority of these mutations are frameshift, nonsense, insertion/deletion, or splice site mutations, resulting in truncation and inactivation of the encoded protein folliculin. FLCN consists of 14 exons spanning a........ Read more »

  • April 7, 2017
  • 04:48 AM
  • 236 views

Folate-dependent one carbon metabolism and transsulfuration pathways: biomarkers for autism?

by Paul Whiteley in Questioning Answers

I found it a little unusual that the findings reported by Daniel Howsmon and colleagues [1] (open-access) talking about "multivariate statistical analysis presented herein [provided] unprecedented quantitative classification results for separating participants into ASD [autism spectrum disorder] and NEU [neurotypical] cohorts based solely on biochemical data" merited a rapid reply in a prominent science magazine pouring cold water on the results (see here). Not least bec........ Read more »

  • April 6, 2017
  • 02:44 AM
  • 241 views

"a single intravenous infusion of autologous umbilical cord blood" and autism

by Paul Whiteley in Questioning Answers

'Could stem cells offer hope for autism?' went one media headline referencing the very preliminary "phase I, open-label trial" published by Geraldine Dawson and colleagues [1] (open-access) detailing the experiences of a single intravenous infusion of autologous umbilical cord blood in 25 children with "a confirmed diagnosis of ASD [autism spectrum disorder]."Well, the results were promising in respect of important issues such as safety in light of the tenet 'first do no harm': "Assess........ Read more »

Geraldine Dawson, Jessica M. Sun, Katherine S. Davlantis, Michael Murias,, Lauren Franz, Jesse Troy, Ryan Simmons, Maura Sabatos-DeVito, Rebecca Durham, & Joanne Kurtzberg. (2017) Autologous Cord Blood Infusions Are Safe and Feasible in Young Children with Autism Spectrum Disorder: Results of a Single-Center Phase I Open-Label Trial. Stem Cells Translational Medicine. info:/10.1002/sctm.16-0474

  • April 5, 2017
  • 03:14 AM
  • 245 views

Paediatric congenital heart disease and autism risk (again)

by Paul Whiteley in Questioning Answers

"Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates."So said the findings reported by Jessica Bean Jaworski and colleagues [1] who set about "to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders." Covering a topic that ........ Read more »

Bean Jaworski JL, Flynn T, Burnham N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai EH.... (2017) Rates of autism and potential risk factors in children with congenital heart defects. Congenital heart disease. PMID: 28299880  

  • April 4, 2017
  • 06:00 PM
  • 137 views

New rice fights off drought

by adam phillips in It Ain't Magic

Researchers have created drought resistant transgenic rice using a gene from a small Eurasian flowering plant.... Read more »

  • April 4, 2017
  • 11:00 AM
  • 233 views

Researchers Finally Ask: Does Your Cat Even Like To Be Around You?

by Miss Behavior in The Scorpion and the Frog

This cat has had enough and is running away from home. Photo by Danielle Menuey.While dogs happily and obliviously boast the reputation of being “man’s best friend”, cats have a reputation of being antisocial, independent, and downright grumpy. But do cats really deserve that? Scientists finally decided to find out.Kristin Vitale Shreve and Monique Udell from Oregon State University and Lindsay Mehrkam from Monmouth University asked 25 pet cats and 25 shelter cats their preferences. H........ Read more »

  • April 4, 2017
  • 02:55 AM
  • 215 views

Autism, ageing and comorbidity

by Paul Whiteley in Questioning Answers

I'm not spending too much time today on the findings published by Elizabeth Wise and colleagues [1] but did want to bring them to your attention. Looking at the presentation of "comorbidities and behavioral and neuropsychiatric symptoms" in relation to autism in the context of ageing, some important details were noted. Not least that "GI [gastrointestinal] disorders (68.9%) and seizure disorders (23%) were common, and 25.7% of the sample had a BMI [body mass index] >30" wh........ Read more »

  • April 4, 2017
  • 12:49 AM
  • 173 views

A clue towards understanding intrinsically disordered proteins

by ragothamanyennamalli in Getting to know Structural Bioinformatics

ntrinsically disordered proteins are thought to be fully functional, yet do not confirm to a single conformation, thereby identifying their structure via crystallography becomes problematic. Many intrinsically disordered proteins have been studied and analyzed using NMR methods, however the question as to why proteins are intrinsically disordered is still debatable.... Read more »

  • April 3, 2017
  • 03:10 AM
  • 217 views

Decreased urinary creatinine levels associated with autism (again)

by Paul Whiteley in Questioning Answers

One finding in particular stood out from those reported by Lussu and colleagues [1] following some nifty metabolomic investigations: decreased levels of urinary creatinine in their cohort of participants diagnosed as on the autism spectrum (n=21) compared with "controls (n = 21), these being siblings of autistic patients."Based on the "use of 1 H-NMR metabolomics to analyze the global biochemical signature of ASD [autism spectrum disorder] patients" researchers turned again to a fa........ Read more »

Lussu M, Noto A, Masili A, Rinaldi AC, Dessì A, De Angelis M, De Giacomo A, Fanos V, Atzori L, & Francavilla R. (2017) The urinary 1 H-NMR metabolomics profile of an italian autistic children population and their unaffected siblings. Autism research : official journal of the International Society for Autism Research. PMID: 28296209  

  • April 2, 2017
  • 04:10 AM
  • 212 views

On the under-studied populations within the autism spectrum

by Paul Whiteley in Questioning Answers

I don't typically post on a Sunday, but given that today - 2nd April - is World Autism Awareness Day I've decided to make an exception. The theme of today's post is based around the notion that the autism spectrum is truly wide and heterogeneous, and although this is fairly universally acknowledged, the current peer-reviewed research literature on autism is perhaps not yet so accepting. So...Consistent with the idea that scientific research seems to go through cycles of themes/interests, th........ Read more »

Chakrabarti B. (2017) Commentary: Critical considerations for studying low-functioning autism. Journal of child psychology and psychiatry, and allied disciplines, 58(4), 436-438. PMID: 28346760  

  • April 1, 2017
  • 04:16 AM
  • 223 views

Yet more bumetanide and autism findings

by Paul Whiteley in Questioning Answers

Bumetanide, a loop diuretic medicine typically used to treat heart failure, is probably not something that most people would associate with 'attenuating' some of the presented characteristics of autism. This Na-K-Cl cotransporter (NKCC) blocking drug (influencing chloride concentrations in neurons and impacting on the actions of gamma-Aminobutyric acid, GABA) has however made quite a few appearances in the peer-reviewed autism research literature (see here and see here) and beyond........ Read more »

Lemonnier, E., Villeneuve, N., Sonie, S., Serret, S., Rosier, A., Roue, M., Brosset, P., Viellard, M., Bernoux, D., Rondeau, S.... (2017) Effects of bumetanide on neurobehavioral function in children and adolescents with autism spectrum disorders. Translational Psychiatry, 7(3). DOI: 10.1038/tp.2017.10  

  • March 31, 2017
  • 12:10 PM
  • 247 views

Giving the underserved the care they deserve

by Aurametrix team in Aurametrix Blog

Nobody likes strong smells coming from other human beings. It's just that social convention: you are nice, if you smell nice, and you are a monster  - like Shakespeare's Caliban - if you smell bad. ​Caliban, often depicted as a Golumn-like creature, is one of the first cases of fish odor syndrome described in the literature. No amount of soap and water would help him to wash the smell away, as his body is constantly producing a pungent small molecule trimethylamine. ... Read more »

Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF.... (2017) Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. BMC medical genetics, 18(1), 11. PMID: 28196478  

Callewaert C, Lambert J, & Van de Wiele T. (2016) Towards a bacterial treatment for armpit malodour. Experimental dermatology. PMID: 27892611  

  • March 31, 2017
  • 10:16 AM
  • 179 views

The Snail That Only Lives in a Hole inside Another Hole under a Sea Urchin

by Elizabeth Preston in Inkfish



If you think house hunting is hard, consider the plight of this snail. It lives only in tide pools in southern Japan. Within those tide pools, it only lives in holes carved out of rock—specifically, holes dug by sea urchins. But it can only move into one of those holes after the hole-digging urchin has moved out. When a second, differently shaped sea urchin moves into the hole, it leaves a gap between its spiny body and the wall of the burrow. It's this nook that the snail snuggles int........ Read more »

  • March 31, 2017
  • 07:00 AM
  • 172 views

Friday Fellow: Mexican Giant Horsetail

by Piter Boll in Earthling Nature

by Piter Kehoma Boll If you are walking through the forest of Central America, you may end up finding something that at first you could think is a group of bamboos, plants growing as a cylindrical segmented stem that can … Continue reading →... Read more »

  • March 31, 2017
  • 02:51 AM
  • 212 views

Coeliac disease, autism and more

by Paul Whiteley in Questioning Answers

"Compared with the general population, children with celiac disease had a 1.4-fold greater risk of future psychiatric disorders. Childhood celiac disease was identified as a risk factor for mood disorders, anxiety disorders, eating disorders, behavioral disorders, ADHD [attention-deficit hyperactivity disorder], ASD [autism spectrum disorder], and intellectual disability."So said the study findings reported by Agnieszka Butwicka and colleagues [1] who, yet again, relied on one of ........ Read more »

Butwicka A, Lichtenstein P, Frisén L, Almqvist C, Larsson H, & Ludvigsson JF. (2017) Celiac Disease Is Associated with Childhood Psychiatric Disorders: A Population-Based Study. The Journal of pediatrics. PMID: 28283256  

  • March 30, 2017
  • 03:12 AM
  • 226 views

[Objective] exposure to flame retardants and social behaviours

by Paul Whiteley in Questioning Answers

Although a few details of the study reported by Shannon Lipscomb and colleagues [1] (open-access) interested me, I was particularly taken by their use of "a silicone passive wristband sampler [worn] around his/her wrist or ankle" to "assess the child’s exposure to flame retardants" as part of their investigation "to determine if flame retardant exposure was associated with measurable differences in social behaviors among children ages 3–5 years."I've covered the topic of potential adver........ Read more »

Lipscomb ST, McClelland MM, MacDonald M, Cardenas A, Anderson KA, & Kile ML. (2017) Cross-sectional study of social behaviors in preschool children and exposure to flame retardants. Environmental health : a global access science source, 16(1), 23. PMID: 28274271  

  • March 29, 2017
  • 02:54 AM
  • 224 views

L-methylfolate administration and autism: a case report

by Paul Whiteley in Questioning Answers

I should have really titled this post 'another case report' given yesterday's entry on this blog talking about a case of [untreated] PKU and autistic behaviours/diagnosis. Here I am again talking about another N=1 with autism in mind and specifically the findings reported by Kim Siscoe & David Lohr [1] on how: "L-methylfolate supplementation improved symptoms of aggression and disruptive behavior in a child with autism who tested positive for the C677TT allele of the methyltetrahydrofolate r........ Read more »

  • March 28, 2017
  • 04:48 PM
  • 215 views

Bottlenose Dolphins: The Ultimate Sea Bully? (A Guest Post)

by Miss Behavior in The Scorpion and the Frog

By Kayla FullerImagine this situation: you’ve brought your favorite lunch to work. Everyone is jealous of your food, continuously eyeing it up. A few coworkers, who have brought in disappointing lunches in comparison, approach and demand that you hand it over. After you refuse, they beat you until your body lies lifeless and they take your lunch anyway. Woah, woah, woah… that took a dramatic turn! Photo of a harbour porpoise, taken by AVampireTear (Wikimedia Commons)But for harbour porpoise........ Read more »

  • March 28, 2017
  • 12:42 PM
  • 190 views

Caterpillars Recruit Friends with Anal Scraping

by Elizabeth Preston in Inkfish



Newly hatched caterpillars look helpless: they're teensy, soft and juicy, with no parent around for protection. But certain young insects, the masked birch caterpillars, are more capable than they seem. They gather in groups to keep themselves safe. To form those groups, they use a previously undiscovered language of buzzes, vibrations, head banging and butt scraping.



The species, Drepana arcuata, passes through five caterpillar life stages (called instars) on its way to becoming a li... Read more »

Yadav, C., Guedes, R., Matheson, S., Timbers, T., & Yack, J. (2017) Invitation by vibration: recruitment to feeding shelters in social caterpillars. Behavioral Ecology and Sociobiology, 71(3). DOI: 10.1007/s00265-017-2280-x  

  • March 28, 2017
  • 04:34 AM
  • 237 views

Presenting with the symptoms of autism and then diagnosed with phenylketonuria (PKU)

by Paul Whiteley in Questioning Answers

The case report from Betül Mazlum and colleagues [1] (open-access available here) illustrates once again that (a) the plural 'autisms' exist (see here) and (b) screening for inborn errors of metabolism (IEM) should be an important part of any autism assessment (see here). Indeed, screening for IEM should really be part of assessments for many different labels...Detailing a case report wherein a 3-year old child came to clinical attention for "speech delay and social problems", the authors ........ Read more »

Mazlum B, Anlar B, Kalkanoğlu-Sivri HS, Karlı-Oğuz K, Özusta Ş, & Ünal F. (2016) A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood. The Turkish journal of pediatrics, 58(3), 318-322. PMID: 28266201  

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