Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that shares clinical similarities with BHD. TSC results from germline mutations in the Tsc1 or Tsc2 gene, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma can occur. In the lung, patients can develop multifocal micronodular pneumocyte hyperplasia and LAM. TSC proteins are negative regulators of the mTORC1 pathway. The mechanisms of organ........ Read more »
Ren S, Luo Y, Chen H, Warburton D, Lam HC, Wang L, Chen P, Henske EP, & Shi W. (2016) Inactivation of Tsc2 in Mesoderm-Derived Cells Causes Polycystic Kidney Lesions and Impairs Lung Alveolarization. The American journal of pathology. PMID: 27768862
So: "Results indicate that individuals diagnosed with PDD [pervasive developmental disorder] by DSM-IV-TR criteria may not be diagnosed using DSM-5 criteria."That was the conclusion reached by Ferhat Yaylaci & Suha Miral  following their study of 150 children (3-15 years old) diagnosed with PDD "by DSM-IV-TR" whose symptoms/presentation were "reviewed through psychiatric assessment based on DSM-IV-TR and DSM-5 criteria." The percentage figure they arrived at (19.3%) indicat........ Read more »
Yaylaci, F., & Miral, S. (2016) A Comparison of DSM-IV-TR and DSM-5 Diagnostic Classifications in the Clinical Diagnosis of Autistic Spectrum Disorder. Journal of Autism and Developmental Disorders. DOI: 10.1007/s10803-016-2937-8
I'd like to think that the review article by Annik Simons and colleagues  (open-access) highlights some pretty strong evidence to suggest there being at least some connection between some autism and some of the collected inborn errors of metabolism. Indeed, when people generally talk about 'not knowing what causes autism' if we perhaps consider a more plural view of 'the autisms', there is a case to be made to say we might know what causes 'some' autism and some of it might lie in this area.......... Read more »
Simons A, Eyskens F, Glazemakers I, & van West D. (2016) Can psychiatric childhood disorders be due to inborn errors of metabolism?. European child . PMID: 27695954
The title of this post is partially taken from the BBC take on the findings reported by Andrew Pickles and colleagues  detailing a long-term follow up (and slight adjustment to the calculation of behavioural scores) of the Preschool Autism Communication Trial (PACT). PACT by the way, is a strategy based on the important tenet of shared attention where: "The approach aims to help parents adapt their communication style to their child’s impairments and respond to their child with enhance........ Read more »
Pickles, A., Le Couteur, A., Leadbitter, K., Salomone, E., Cole-Fletcher, R., Tobin, H., Gammer, I., Lowry, J., Vamvakas, G., Byford, S.... (2016) Parent-mediated social communication therapy for young children with autism (PACT): long-term follow-up of a randomised controlled trial. The Lancet. DOI: 10.1016/S0140-6736(16)31229-6
"We aimed to investigate the risk of substance use-related problems in ASD [autism spectrum disorder]."Findings: "The risk of substance use-related problems was the highest among individuals with ASD and ADHD [attention-deficit hyperactivity disorder]."So said the findings reported by Agnieszka Butwicka and colleagues  (open-access) looking again at an important but slightly uncomfortable topic: substance use-related problems or substance use disorder (SUD) with autism in ........ Read more »
Butwicka, A., Långström, N., Larsson, H., Lundström, S., Serlachius, E., Almqvist, C., Frisén, L., & Lichtenstein, P. (2016) Increased Risk for Substance Use-Related Problems in Autism Spectrum Disorders: A Population-Based Cohort Study. Journal of Autism and Developmental Disorders. DOI: 10.1007/s10803-016-2914-2
"Alternative medicine treatment put four-year-old boy in A&E [accident & emergency / emergency room]" went the recent BBC headline talking about the case report published by Drs Catriona Boyd and Abdul Moodambail .Describing the experiences of a 4-year old boy who attended A&E (the emergency room) following an extended period of "vomiting, loss of appetite, constipation, polyuria, polydipsia and loss of 3kg in weight" in previous weeks, the authors report how after an unremar........ Read more »
Boyd, C., & Moodambail, A. (2016) Severe hypercalcaemia in a child secondary to use of alternative therapies. BMJ Case Reports. DOI: 10.1136/bcr-2016-215849
There is significant interest in activities that may boost academic achievement in the classroom.I previously posted on evidence that exercise prior to a learning task improved reading comprehension scores.You can access that post by clicking HERE.Now a study has compared two types of activities after a memorization task in male students.In this study, 60 male students completed a learning task and then were randomized into one of three activities for one hour. The three activities were playing ........ Read more »
Kindermann, H., Javor, A., & Reuter, M. (2016) Playing counter-strike versus running: The impact of leisure time activities and cortisol on intermediate-term memory in male students. Cognitive Systems Research, 1-7. DOI: 10.1016/j.cogsys.2016.01.002
In a previous post on this blog I talked about an important paper by Vannucchi and colleagues  summarising the state of the peer-reviewed research (up to 2014) on bipolar disorder and Asperger syndrome (AS). Today, I'm adding to the conversation on this important topic by introducing two papers to the discussions: the first by Xenia Borue and colleagues  and the second by Ahmad Abu-Akel and colleagues  covering the longitudinal course of bipolar disorder (BD) in rela........ Read more »
Borue, X., Mazefsky, C., Rooks, B., Strober, M., Keller, M., Hower, H., Yen, S., Gill, M., Diler, R., Axelson, D.... (2016) Longitudinal Course of Bipolar Disorder in Youth With High-Functioning Autism Spectrum Disorder. Journal of the American Academy of Child . DOI: 10.1016/j.jaac.2016.08.011
Abu-Akel, A., Clark, J., Perry, A., Wood, S., Forty, L., Craddock, N., Jones, I., Gordon-Smith, K., & Jones, L. (2016) Autistic and Schizotypal Traits and Global Functioning in Bipolar I Disorder. Journal of Affective Disorders. DOI: 10.1016/j.jad.2016.09.059
People with persistent complaints 6 to 12 months after an ankle sprain walk differently than those without persistent complaints.... Read more »
Kros, W., Keijsers, N., van Ochten, J., Bierma-Zeinstra, S., & van Middelkoop, M. (2016) Center of pressure during stance and gait in subjects with or without persistent complaints after a lateral ankle sprain. Gait , 24-29. DOI: 10.1016/j.gaitpost.2016.04.022
Neu5Gc, a non-human sialic acid sugar molecule common in red meat that increases the risk of tumor formation in humans, is also prevalent in pig organs, with concentrations increasing as the organs are cooked, a study has found. The research suggests that Neu5Gc may pose a significant health hazard among those who regularly consume organ meats from pigs.
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Ji, S., Wang, F., Chen, Y., Yang, C., Zhang, P., Zhang, X., Troy, F., & Wang, B. (2016) Developmental changes in the level of free and conjugated sialic acids, Neu5Ac, Neu5Gc and KDN in different organs of pig: a LC-MS/MS quantitative analyses. Glycoconjugate Journal. DOI: 10.1007/s10719-016-9724-9
A fairly quick post for your reading delight today as I bring the paper by Miller and colleagues  to your attention suggesting that: "Early intervention targeting language and motor skills may improve later achievement in this population."'This population' referred to a small cohort (N=26) of children diagnosed with an autism spectrum disorder (ASD) who were examined "at the approximate ages of two, four, and ten" years with regards to their academic achievement and the variables that might b........ Read more »
Miller LE, Burke JD, Troyb E, Knoch K, Herlihy LE, & Fein DA. (2016) Preschool predictors of school-age academic achievement in autism spectrum disorder. The Clinical neuropsychologist, 1-22. PMID: 27705180
Pathogen epitopes are fragments of bacterial or viral proteins. Attached to the surface structure of cells, they prompt the body's immune system to mount a response against foreign substances. Researchers have determined that nearly a third of all existing human epitopes consist of two different fragments. Known as 'spliced epitopes', these types of epitopes have long been regarded as rare. The fact that they are so highly prevalent might, among other things, explain why the immun........ Read more »
Liepe, J., Marino, F., Sidney, J., Jeko, A., Bunting, D., Sette, A., Kloetzel, P., Stumpf, M., Heck, A., & Mishto, M. (2016) A large fraction of HLA class I ligands are proteasome-generated spliced peptides. Science, 354(6310), 354-358. DOI: 10.1126/science.aaf4384
Patients that present with a spontaneous pneumothorax (SP) without a known medical history of lung disease are usually diagnosed as primary spontaneous pneumothorax - a pneumothorax that occurs without underlying diseases. However, underlying diffuse cystic lung diseases such as Birt-Hogg-Dube syndrome (BHD), lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) may have a spontaneous pneumothorax as their first symptom. In their new study, Gupta et al. (2016) evaluat........ Read more »
Gupta N, Langenderfer D, McCormack FX, Schauer DP, & Eckman MH. (2016) Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax is Cost-effective. Annals of the American Thoracic Society. PMID: 27737563
I'm actually getting a little bored of talking about the various peer-reviewed research looking at a possible connection between asthma and autism on this blog. It's not that it isn't an interesting topic but rather that the data is coming in thick and fast suggesting that behaviour and physiology are not completely separate anymore.I did however want to direct you to the paper by Alessandro Tonacci and colleagues  who, following a systematic review "according to the PRISMA guidelines" s........ Read more »
Tonacci A, Billeci L, Ruta L, Tartarisco G, Pioggia G, & Gangemi S. (2016) A systematic review of the association between allergic asthma and autism. Minerva pediatrica. PMID: 27706122
There are three kinds of glial cells in the brain, oligodendrocyte, astrocyte and microglia. Oligodendrocytes myelinate neuronal axons to increase conduction velocity of neuronal impulses. A Japanese research team found a characteristic feature of oligodendrocytes that selectively myelinate a particular set of neuronal axons.
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Osanai, Y., Shimizu, T., Mori, T., Yoshimura, Y., Hatanaka, N., Nambu, A., Kimori, Y., Koyama, S., Kobayashi, K., & Ikenaka, K. (2016) Rabies virus-mediated oligodendrocyte labeling reveals a single oligodendrocyte myelinates axons from distinct brain regions. Glia. DOI: 10.1002/glia.23076
A quote to begin: "... in this small trial of children with non-syndromic ASD [autism spectrum disorder] and language impairment, treatment with high-dose folinic acid for 12 weeks resulted in improvement in verbal communication as compared with placebo, particularly in those participants who were positive for FRAAs [folate receptor-α autoantibody]."Those were the findings reported by Richard Frye and colleagues  (open-access) continuing a research theme from this group l........ Read more »
Frye, R., Slattery, J., Delhey, L., Furgerson, B., Strickland, T., Tippett, M., Sailey, A., Wynne, R., Rose, S., Melnyk, S.... (2016) Folinic acid improves verbal communication in children with autism and language impairment: a randomized double-blind placebo-controlled trial. Molecular Psychiatry. DOI: 10.1038/mp.2016.168
Patients with chronic ankle instability who received a 4-week supervised rehabilitation program consisting of therapeutic exercise, joint mobilization, and neural mobilizations had greater clinical improvements compared with patients who were treated with therapeutic exercise alone.... Read more »
Plaza-Manzano, G., Vergara-Vila, M., Val-Otero, S., Rivera-Prieto, C., Pecos-Martin, D., Gallego-Izquierdo, T., Ferragut-Garcías, A., & Romero-Franco, N. (2016) Manual therapy in joint and nerve structures combined with exercises in the treatment of recurrent ankle sprains: A randomized, controlled trial. Manual Therapy, 141-149. DOI: 10.1016/j.math.2016.08.006
"In this study, we again show that acetaminophen use is associated with ASD [autism spectrum disorder]."That was one of the results reported by Stephen Schultz & Georgianna Gould  (open-access available here) as part of their survey of the US "National Database for Autism Research (NDAR) of the National Institute of Mental Health (NIMH)" looking at "whether ASD is associated with acetaminophen use." Acetaminophen by the way, is another name for paracetamol, the over-the-counter ........ Read more »
Schultz ST, & Gould GG. (2016) Acetaminophen Use for Fever in Children Associated with Autism Spectrum Disorder. Autism-open access, 6(2). PMID: 27695658
'The times they are a changin'' said a Nobel prize winner and that's also a sentiment that seems true when it comes to chronic fatigue syndrome / myalgic encephalomyeltis (CFS/ME) too (see here for example).Anyone who has followed the tos-and-fros of the PACE trial - the one that suggested that CBT (cognitive behavioural therapy) and GET (graded exercise therapy) might provide some significant relief of symptoms associated with CFS/ME - will probably have heard the ........ Read more »
Geraghty KJ, & Esmail A. (2016) Chronic fatigue syndrome: is the biopsychosocial model responsible for patient dissatisfaction and harm?. The British journal of general practice : the journal of the Royal College of General Practitioners, 66(649), 437-8. PMID: 27481982
Bladder cancer is the seventh most common cancer in males worldwide. Every year, about 20,000 people in Japan are diagnosed with bladder cancer, of whom around 8,000--mostly men--succumb to the disease. Bladder cancers can be grouped into two types: non-muscle-invasive cancers, which have a five-year survival rate of 90 percent, and muscle-invasive cancers, which have poor prognoses.
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Matsumoto, R., Tsuda, M., Yoshida, K., Tanino, M., Kimura, T., Nishihara, H., Abe, T., Shinohara, N., Nonomura, K., & Tanaka, S. (2016) Aldo-keto reductase 1C1 induced by interleukin-1β mediates the invasive potential and drug resistance of metastatic bladder cancer cells. Scientific Reports, 34625. DOI: 10.1038/srep34625
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