by Kamil S. Jaron in genome ecology evolution etc
Exploration of variability of human genomes represents a key step in the holy grail of human genetics – to link genotypes with phenotypes, it also provides insights to human evolution and history. For this purpose Exome Aggregation Consortium (ExAC) have … Continue reading →... Read more »
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB.... (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285-91. PMID: 27535533
"Prescription drug use and polypharmacy rates among adults with ASD [autism spectrum disorder] are substantially higher than those in an age-, sex-, and race-matched cohort of adults without ASD."That sentence taken from the paper by Rini Vohra and colleagues  (open-access available here) is probably not likely to win any 'novel findings of the year' awards given the already quite voluminous data published on the medication use and autism (see here for example). What gives the ........ Read more »
Vohra R, Madhavan S, Sambamoorthi U, StPeter C, Poe S, Dwibedi N, & Ajmera M. (2016) Prescription Drug Use and Polypharmacy Among Medicaid-Enrolled Adults with Autism: A Retrospective Cross-Sectional Analysis. Drugs - real world outcomes. PMID: 27873285
"A total of 22 original papers that examined the association between folic acid supplementation in human pregnancy and neurodevelopment/autism were identified after the screening, with 15 studies showing a beneficial effect of folic acid supplementation on neurodevelopment/autism, 6 studies showed no statistically significant difference, while one study showed a harmful effect in > 5 mg folic acid supplementation/day during pregnancy."That rather long quote taken from the paper published by Y........ Read more »
Gao Y, Sheng C, Xie RH, Sun W, Asztalos E, Moddemann D, Zwaigenbaum L, Walker M, & Wen SW. (2016) New Perspective on Impact of Folic Acid Supplementation during Pregnancy on Neurodevelopment/Autism in the Offspring Children - A Systematic Review. PloS one, 11(11). PMID: 27875541
A Blanket high dose vitamin D supplement plan results in elevated levels of vitamin D metabolites after the supplementation is completed. This could result in lower than normal levels of vitamin D, which is the opposite effect of the intended supplementation.... Read more »
Owens DJ, Tang JC, Bradley WJ, Sparks SA, Fraser WD, Morton JP, & Close GL. (2016) Efficacy of High Dose Vitamin D Supplements for Elite Athletes. Medicine and science in sports and exercise. PMID: 27741217
It would be great if, before starting a therapy, it was possible to test small doses of several drugs, at the same time, in a patient and compare their effects on the tumor, so to identify the one that works best.
The study of Yaari and colleagues from the Israel Institute of Technology in Haifa, published in Nature Communication, opens a way to this achievement.... Read more »
Yaari, Z., da Silva, D., Zinger, A., Goldman, E., Kajal, A., Tshuva, R., Barak, E., Dahan, N., Hershkovitz, D., Goldfeder, M.... (2016) Theranostic barcoded nanoparticles for personalized cancer medicine. Nature Communications, 13325. DOI: 10.1038/ncomms13325
Insomnia of sufficient severity to meet clinical significance is estimated to affect up to 20% of the general population.This makes insomnia an important public health challenge.Effective, inexpensive and accessible programs to treat insomnia are needed.One recent controlled clinical trial supports the promise of an online intervention that incorporates key elements of cognitive behavioral therapy (CBT).Lee Ritterband and colleagues at the University of Virginia recently published a controlled c........ Read more »
Ritterband LM, Thorndike FP, Ingersoll KS, Lord HR, Gonder-Frederick L, Frederick C, Quigg MS, Cohn WF, & Morin CM. (2016) Effect of a Web-Based Cognitive Behavior Therapy for Insomnia Intervention With 1-Year Follow-up: A Randomized Clinical Trial. JAMA psychiatry. PMID: 27902836
Increased body fat and physical inactivity may be modifiable risk factors for osteoporosis and sarcopenia. ... Read more »
Lee I, Cho J, Jin Y, Ha C, Kim T, & Kang H. (2016) Body Fat and Physical Activity Modulate the Association Between Sarcopenia and Osteoporosis in Elderly Korean Women. Journal of sports science , 15(3), 477-482. PMID: 27803626
Identify everyone born in Denmark between 1985-2002. Identify those treated "in the primary care setting" for an infection. Identify those diagnosed with schizophrenia and affective disorders. Look-see whether there is an overlap between infection or treated infection and schizophrenia / affective disorders. Report results.That's basically the study published by Köhler and colleagues  (a name that has appeared on this blog before) who concluded that: "Infections treated with anti-infect........ Read more »
Köhler O, Petersen L, Mors O, Mortensen PB, Yolken RH, Gasse C, & Benros ME. (2016) Infections and exposure to anti-infective agents and the risk of severe mental disorders: a nationwide study. Acta psychiatrica Scandinavica. PMID: 27870529
Individual differences may be seen in baseline SCAT3 data between sex, history of concussion, and history of comorbidities. Therefore, using the patient’s personal medical history may add value to the SCAT3 sideline screening.... Read more »
Snedden TR, Brooks MA, Hetzel S, & McGuine T. (2016) Normative Values of the Sport Concussion Assessment Tool 3 (SCAT3) in High School Athletes. Clinical journal of sport medicine. PMID: 27606952
It was inevitable ("it is your destiny") that I would formulate a post about the paper published by Khaled Saad and colleagues  reporting results based on "a double-blinded, randomized clinical trial (RCT)" looking at the potential usefulness of a vitamin D supplement on "the core symptoms of autism in children." Inevitable because the peer-reviewed research literature looking at the sunshine vitamin/hormone in relation to autism is getting rather voluminous (see here and see here f........ Read more »
Saad K, Abdel-Rahman AA, Elserogy YM, Al-Atram AA, El-Houfey AA, Othman HA, Bjørklund G, Jia F, Urbina MA, Abo-Elela MG.... (2016) Randomized controlled trial of vitamin D supplementation in children with autism spectrum disorder. Journal of child psychology and psychiatry, and allied disciplines. PMID: 27868194
Fig. 4 (Wexler, 2016). Lindstrom's Electro-Medical Apparatus (ca. 1895), courtesy of the Bakken.
Think the do-it-yourself transcranial direct current stimulation movement (DIY tDCS) is a technologically savvy and hip creation of 21st century neural engineering? MIT graduate student Anna Wexler has an excellent and fun review of late 19th and early 20th century electrical stimulation
... Read more »
Do not mess with Lois.Today I'm posting on the topic of the paper by Rose Nevill and colleagues  concluding: "that while most outcome domains of parent-delivered intervention are associated with small effects, the quality of research is improving."Parent-mediated interventions in relation to autism have been covered on this blog quite recently (see here) accompanied by that 'super-parenting' headline fail. Such approaches work on the idea that helping parents to "develop strategies........ Read more »
Nevill, R., Lecavalier, L., & Stratis, E. (2016) Meta-analysis of parent-mediated interventions for young children with autism spectrum disorder. Autism. DOI: 10.1177/1362361316677838
Lab protocols on Blastocystis culture, cryopreservation, and subtyping are now available in Wiley Online Library.... Read more »
Stensvold CR, & Clark CG. (2016) Molecular Identification and Subtype Analysis of Blastocystis. Current Protocols in Microbiology. PMID: 27858971
Clark CG, & Stensvold CR. (2016) Blastocystis: Isolation, Xenic Cultivation, and Cryopreservation. Current protocols in microbiology. PMID: 27858970
Matsutani et al. (2016) reported for the first time BHD syndrome accompanied by pulmonary arteriovenous malformation. The patient, a young male with no significant medical history, presented with chest pain. Chest X-ray and CT revealed emphysematous changes in both lungs and a tumour with pleural fluid. A thoracoscopy revealed dark red pleural fluid and multiple cysts in the lung. The tumour lesion was resected and identified as a non-malignant intrapulmonary hematoma caused by a significant hae........ Read more »
Matsutani, N., Dejima, H., Takahashi, Y., Uehara, H., Iinuma, H., Tanaka, F., & Kawamura, M. (2016) Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation. Journal of Thoracic Disease, 8(10). DOI: 10.21037/jtd.2016.09.68
Gunji-Niitsu, Y., Kumasaka, T., Kitamura, S., Hoshika, Y., Hayashi, T., Tokuda, H., Morita, R., Kobayashi, E., Mitani, K., Kikkawa, M.... (2016) Benign clear cell “sugar” tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report. BMC Medical Genetics, 17(1). DOI: 10.1186/s12881-016-0350-y
Yes, it is childish but...With all the continued chatter on a possible role for the collected gut microbiota - those wee beasties that inhabit our deepest, darkest recesses - in relation to some autism (see here for example), the paper by Roberta Grimaldi and colleagues  (open-access available here) provides yet more potentially important information.So, poo(p) samples were the starring material in the paper - "obtained from three non-autistic children and three autistic child donors"- and sp........ Read more »
Grimaldi R, Cela D, Swann JR, Vulevic J, Gibson GR, Tzortzis G, & Costabile A. (2016) In vitro fermentation of B-GOS: Impact on faecal bacterial populations and metabolic activity in autistic and non-autistic children. FEMS microbiology ecology. PMID: 27856622
Foam rolling may lead to small improvements in dorsiflexion range of motion in the contralateral limb. ... Read more »
Kelly S, & Beardsley C. (2016) SPECIFIC AND CROSS-OVER EFFECTS OF FOAM ROLLING ON ANKLE DORSIFLEXION RANGE OF MOTION. International journal of sports physical therapy, 11(4), 544-51. PMID: 27525179
"Dietary fiber deprivation, together with a fiber-deprived, mucus-eroding microbiota, promotes greater epithelial access and lethal colitis by the mucosal pathogen, Citrobacter rodentium."So said the findings reported by Mahesh Desai and colleagues  meriting an editorial in the publishing journal  as the sentiments of 'eating your greens' applies to some rather interesting [mouse] findings.Fibre (UK spelling) comes in various different forms typically categorised as soluble and insoluble d........ Read more »
Desai MS, Seekatz AM, Koropatkin NM, Kamada N, Hickey CA, Wolter M, Pudlo NA, Kitamoto S, Terrapon N, Muller A.... (2016) A Dietary Fiber-Deprived Gut Microbiota Degrades the Colonic Mucus Barrier and Enhances Pathogen Susceptibility. Cell, 167(5), 1339-2147483647. PMID: 27863247
The findings reported by Maureen Russell and colleagues  provide some blogging fodder today and the observation that: "Biological caregivers of children with ASD [autism spectrum disorder] demonstrated a high prevalence of RLS [Restless Legs Syndrome] symptoms and poorer mental health."OK, I know some people might be asking 'just what is Restless Legs Syndrome'? It is a recognised condition complete with 'disease' title (Willis-Ekbom disease). Symptoms, as the name suggests, centre ........ Read more »
Russell M, Baldwin C, McClain D, Matthews N, Smith C, & Quan SF. (2016) Symptoms of Restless Legs Syndrome in Biological Caregivers of Children with Autism Spectrum Disorders. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. PMID: 27855729
William James authored a seminal book titled The Varieties of Religious Experience: A Study in Human Nature that was published in 1902.In this work, James reviewed the nature of religious experiences and noted a lack of scientific inquiry into this human phenomenon.James would have been extremely interested in a recent scientific inquiry into the religious experience from brain researchers at the University of Utah and Harvard University.In this study, functional magnetic resonance imaging (fMRI........ Read more »
Ferguson MA, Nielsen JA, King JB, Dai L, Giangrasso DM, Holman R, Korenberg JR, & Anderson JS. (2016) Reward, Salience, and Attentional Networks are Activated by Religious Experience in Devout Mormons. Social neuroscience. PMID: 27834117
The title of the paper by Konstantin Mechler and colleagues - "Defining the hidden evidence in autism research. Forty per cent of rigorously designed clinical trials remain unpublished - a cross-sectional analysis"  - provides some discussion today. Drawing on the ideas that publication bias and/or the so-called 'file-drawer problem' - terms that refer to the non-publication of study results potentially skewing the collected scientific opinion in a particular area - might also exten........ Read more »
Mechler K, Hoffmann GF, Dittmann RW, & Ries M. (2016) Defining the hidden evidence in autism research. Forty per cent of rigorously designed clinical trials remain unpublished - a cross-sectional analysis. International journal of methods in psychiatric research. PMID: 27862603
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