Birt–Hogg–Dubé syndrome is caused by germline mutations in the FLCN gene and characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax (SP) and renal cancer. Because sudden changes in air pressure can increase the chances of developing a collapsed lung, a concern many BHD patients have is whether it is safe to air travel and scuba dive, or whether this increases the chances of a pneumothorax. In a new study, Johannesma et al. (2016) evaluate the incidence ........ Read more »
Johannesma, P., van de Beek, I., van der Wel, J., Paul, M., Houweling, A., Jonker, M., van Waesberghe, J., Reinhard, R., Starink, T., van Moorselaar, R.... (2016) Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt–Hogg–Dubé syndrome. SpringerPlus, 5(1). DOI: 10.1186/s40064-016-3009-4
"Anxiety disorders significantly increased mortality risk. Comorbidity of anxiety disorders and depression played an important part in the increased mortality."So said the findings reported by Sandra Meier and colleagues  looking to assess any relationship between the presence of an anxiety disorder and mortality risk. Based on data from one of those oh-so-useful Scandinavian population registries (Denmark this time), researchers reported that: "The risk of death by natural and unnatural........ Read more »
Meier SM, Mattheisen M, Mors O, Mortensen PB, Laursen TM, & Penninx BW. (2016) Increased mortality among people with anxiety disorders: total population study. The British journal of psychiatry : the journal of mental science. PMID: 27388572
"Further RCTs [randomised-controlled trials] should be conducted on study populations with diagnosed or clinically significant depression of adequate duration using EPA [eicosapentaenoic acid] -predominant omega-3 HUFA [highly unsaturated fatty acids] formulations."So went the conclusions of the review article published by Brian Hallahan and colleagues  who searched the peer-reviewed science literature for clinical trials "evaluating efficacy of omega-3 high........ Read more »
Hallahan B, Ryan T, Hibbeln JR, Murray IT, Glynn S, Ramsden CE, SanGiovanni JP, & Davis JM. (2016) Efficacy of omega-3 highly unsaturated fatty acids in the treatment of depression. The British journal of psychiatry : the journal of mental science. PMID: 27103682
Stabilization exercises are better than general exercises for people with chronic non-specific low back pain and possibly as effective as manual therapy.... Read more »
Neto, M., Lopes, J., Conceição, C., Araujo, A., Brasileiro, A., Sousa, C., Carvalho, V., & Arcanjo, F. (2016) Stabilization exercise compared to general exercises or manual therapy for the management of low back pain: A systematic review and meta-analysis. Physical Therapy in Sport. DOI: 10.1016/j.ptsp.2016.08.004
The paper by Enzo Grossi and colleagues  (open-access) is definitely worthy of a post today and the suggestion that the "appropriate use of probiotics" might be something to consider for at least some diagnosed as being on the autism spectrum.Accepting that I'm slightly curious as to what would be considered 'inappropriate use of probiotics', the Grossi paper describes the clinical journey of a boy aged 12 diagnosed with an autism spectrum disorder (ASD) accompanied by learning (intellectual)........ Read more »
Grossi, E., Melli, S., Dunca, D., & Terruzzi, V. (2016) Unexpected improvement in core autism spectrum disorder symptoms after long-term treatment with probiotics. SAGE Open Medical Case Reports. DOI: 10.1177/2050313X16666231
Today I'm (belatedly) talking about the paper by Robert Naviaux and colleagues  (open-access) and some further peer-reviewed discussion concerning the metabolomics of chronic fatigue syndrome (CFS). Suggesting that "targeted, broad-spectrum metabolomics of plasma not only revealed a characteristic chemical signature but also revealed an unexpected underlying biology" when it comes to CFS, it is not surprising that this work has attracted some media interest (indeed, quite a lot of m........ Read more »
Molecular model of the drug buprenorphineThe U.S. Surgeon General recently sent a letter to all physicians about the danger of prescription opioids, particularly when used in combination with benzodiazepines (i.e. Valium, Xanax). This combination greatly increases the risk of overdose death.Clinicians can successfully assist those with opioid use disorders. Marc Schuckit, M.D. recently published a nice summary review of entitled "Treatment of Opioid-Use Disorder" in the New England Journal........ Read more »
This post describes the concept behind combination therapies for cancer. Why are they needed? Why can they fail...?... Read more »
"Tablet and phone games could help diagnose autism, study suggests" went the BBC headline covering the paper by Anna Anzulewicz and colleagues  (open-access). The idea being that the way that touch screens are used on tablet and smart phones could potentially 'separate out' those with autism from those with not-autism.Based on a small participant number of "37 children 3–6 years old with autism and 45 age- and gender-matched children developing typically" researchers set about examinin........ Read more »
Anzulewicz A, Sobota K, & Delafield-Butt JT. (2016) Toward the Autism Motor Signature: Gesture patterns during smart tablet gameplay identify children with autism. Scientific reports, 31107. PMID: 27553971
Three minutes of acupressure was effective in decreasing pain in athletes that sustained an acute musculoskeletal injury; however, it failed to help decrease anxiety levels.... Read more »
Mącznik, A., Schneiders, A., Athens, J., & Sullivan, S. (2016) Does Acupressure Hit the Mark? A Three-Arm Randomized Placebo-Controlled Trial of Acupressure for Pain and Anxiety Relief in Athletes With Acute Musculoskeletal Sports Injuries. Clinical Journal of Sport Medicine, 1. DOI: 10.1097/JSM.0000000000000378
A tiny RNA appears to play a role in producing major depression, the mental disorder that affects as many as 250 million people a year worldwide. Major depression, formally known as major depressive disorder, or MDD, brings increased risk of suicide and is reported to cause the second-most years of disability after low-back pain.
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Roy, B., Dunbar, M., Shelton, R., & Dwivedi, Y. (2016) Identification of microRNA-124-3p as a Putative Epigenetic Signature of Major Depressive Disorder. Neuropsychopharmacology. DOI: 10.1038/npp.2016.175
Just over a quarter of children diagnosed with an autism spectrum disorder (ASD) present with self-injurious behaviour (SIB).That was the headline finding reported by Gnakub Soke and colleagues  who surveyed the 8000+ children "in the Autism and Developmental Disabilities Monitoring (ADDM) Network during the 2000, 2006, and 2008 surveillance years." THE ADDM network, as some people might know, is one and the same network that comes up with the [estimated] prevalence of autism in the Unit........ Read more »
Soke GN, Rosenberg SA, Hamman RF, Fingerlin T, Robinson C, Carpenter L, Giarelli E, Lee LC, Wiggins LD, Durkin MS.... (2016) Brief Report: Prevalence of Self-injurious Behaviors among Children with Autism Spectrum Disorder-A Population-Based Study. Journal of autism and developmental disorders. PMID: 27565654
New research has shown that the corticosteroid deflazacort is a safe and effective treatment for Duchenne muscular dystrophy. The findings could pave the way for first U.S.-approved treatment for the disease.
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Griggs, R., Miller, J., Greenberg, C., Fehlings, D., Pestronk, A., Mendell, J., Moxley, R., King, W., Kissel, J., Cwik, V.... (2016) Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy. Neurology, 10. DOI: 10.1212/WNL.0000000000003217
A recent 30-page manuscript provides an exhaustive review of the evidence for the efficacy and safety of statin therapy.The authors of this excellent review provide some context for the relative value of statins.The note that putting 10000 individuals with a history of a vascular event on a statin drug for 5 years would prevent 1,000 subsequent events. This is an example of secondary prevention--preventing another adverse outcome in those already experiencing an adverse event.But the statin drug........ Read more »
Collins, Rory, Reith, Christina, & Emberson, Jonathan. (2016) Interpretation of the evidence for the efficacy and safety of statin therapy. Lancet. info:/http://dx.doi.org/10.1016/S0140-6736(16)31357-5
The DENN protein module contains a longin domain, a DENN domain and a d-DENN domain. Nookala et al. (2012) identified a DENN module in folliculin (FLCN), the Birt-Hogg-Dube tumour suppressor. The DENN module is believed to be a GEF for Rab-GTPases, although FLCN is believed to act as a GAP for RagC (Tsun et al., 2013) as is its yeast homologue, LST7, in interaction with the yeast FNIP homologue Lst4 (Pacitto et al., 2015). A recent bioinformatic study identified DENN domains in several other ........ Read more »
Amick J, Roczniak-Ferguson A, & Ferguson SM. (2016) C9orf72 binds SMCR8, localizes to lysosomes and regulates mTORC1 signaling. Molecular biology of the cell. PMID: 27559131
"The results suggest that post-exertional malaise [PEM] is composed of two empirically different experiences, one for generalized fatigue and one for muscle-specific fatigue."So said the findings reported by Stephanie McManimen and colleagues  looking at one of the most common and debilitating aspects of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) and how rough-and-ready generalised descriptions often do little to reveal the complexities of this particular sympt........ Read more »
McManimen SL, Sunnquist ML, & Jason LA. (2016) Deconstructing post-exertional malaise: An exploratory factor analysis. Journal of health psychology. PMID: 27557649
"Metformin may be effective in decreasing weight gain associated with atypical antipsychotic use and is well tolerated by children and adolescents with ASD [autism spectrum disorder]."So said the paper by Evdokia Anagnostou and colleagues  (open-access) tackling an increasingly important health issue related to the pharmacological 'management' of some aspects of some autism.Metformin is the treatment of choice when it comes to the management of type 2 diabetes (the one where "t........ Read more »
Anagnostou E, Aman MG, Handen BL, Sanders KB, Shui A, Hollway JA, Brian J, Arnold LE, Capano L, Hellings JA.... (2016) Metformin for Treatment of Overweight Induced by Atypical Antipsychotic Medication in Young People With Autism Spectrum Disorder: A Randomized Clinical Trial. JAMA psychiatry. PMID: 27556593
Researchers have found links between the levels of antimicrobial chemicals and antibiotic-resistance genes in the dust of an aging building used for athletics and academics. One of the antimicrobials seen in the study is triclosan, a commonly used antibacterial ingredient in many personal care products.
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Hartmann, E., Hickey, R., Hsu, T., Betancourt Román, C., Chen, J., Schwager, R., Kline, J., Brown, G., Halden, R., Huttenhower, C.... (2016) Antimicrobial Chemicals Are Associated with Elevated Antibiotic Resistance Genes in the Indoor Dust Microbiome. Environmental Science . DOI: 10.1021/acs.est.6b00262
Earlier this summer I posted a review and commentary on a Duke University study of the outcome of children identified as gifted.You can access this post by clicking HERE.Today in Nature News, Tom Clynes publishes a nice review of the history of this topic.He notes there have several large scale studies to examine prospectively children with high academic potential. The cohorts include:Study of Mathematically Precocious Youth-SMPY (Johns Hopkins)Duke University Talent Identification ProgramMunich........ Read more »
Clynes, T. (2016) How to raise a genius: lessons from a 45-year study of super-smart children. Nature, 537(7619), 152-155. DOI: 10.1038/537152a
'Chemicals banned decades ago linked to increased autism risk today' went the press release attached to the findings reported by Kristen Lyall and colleagues  (open-access).Observing that "higher levels of some organochlorine compounds during pregnancy are associated with ASD [autism spectrum disorder] and ID [intellectual disability]" the Lyall results once again push environmental factors back into the research spotlight. Indeed, environmental factors that were bann........ Read more »
Lyall K, Croen LA, Sjödin A, Yoshida CK, Zerbo O, Kharrazi M, & Windham GC. (2016) Polychlorinated Biphenyl and Organochlorine Pesticide Concentrations in Maternal Mid-Pregnancy Serum Samples: Association with Autism Spectrum Disorder and Intellectual Disability. Environmental health perspectives. PMID: 27548254
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