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  • August 5, 2016
  • 05:09 AM
  • 507 views

Multiple germline mutations in rare inherited cancer syndrome genes

by Joana Guedes in BHD Research Blog

A recent study by Whitworth et al. (2016) reports five new cases of multiple germline mutations in inherited cancer syndrome genes, three of them involve the combination of mutations in FLCN with NF1, TP53, and MSH2, respectively.... Read more »

Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD.... (2016) Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. JAMA oncology, 2(3), 373-9. PMID: 26659639  

  • July 29, 2016
  • 11:22 AM
  • 630 views

Elite Cyclists and Brain Fatigue Resistance

by William Yates, M.D. in Brain Posts

In a Brain Post from 2012 I reviewed a study of fatigue in elite athletic performance. This study supported a key role in the brain insula in regulating the perception of exercise-induced fatigue. You can access this post by clicking HERE.An update on this topic was recently published in PloS One by a research team in Australia.This study compared performance on a cognitive task after extreme 20 minute cycling time trial. Professional cyclists were compared to recreational cyclists on the Stroop........ Read more »

Martin K, Staiano W, Menaspà P, Hennessey T, Marcora S, Keegan R, Thompson KG, Martin D, Halson S, & Rattray B. (2016) Superior Inhibitory Control and Resistance to Mental Fatigue in Professional Road Cyclists. PloS one, 11(7). PMID: 27441380  

  • July 22, 2016
  • 09:01 AM
  • 561 views

Update on clinical trials and treatments for RCC

by Joana Guedes in BHD Research Blog

Renal cell carcinoma (RCC) is the most common type of kidney cancer and although the majority of cases are sporadic approximately 3% of cases are caused by genetic conditions such as BHD, VHL, HLRCC and TSC (Randall et al., 2014). These inherited forms of RCC have provided great insights into sporadic cancer genetics. BHD patients can develop multiple kidney tumours. In most cases these tumours are small local RCCs that can be surgically removed. However, these treatments are not without risk,........ Read more »

  • July 12, 2016
  • 11:36 AM
  • 453 views

Dextromethorphan for Alzheimer's Disease Agitation

by William Yates, M.D. in Brain Posts

In my last post I summarized a review of the pharmacology of the drug dextromethorphan.This drug is receiving significant attention for disorders in neuroscience medicine. A phase 2 clinical trial of dextromethorphan-quinidine (DM-Q) was published last fall in JAMA.Here are the key design and results from this study:Subjects: 220 subjects with a diagnosis of probable Alzheimer's disease with clinically significant agitation.Randomization Design: This was a five week trial of 3:4 random........ Read more »

Cummings JL, Lyketsos CG, Peskind ER, Porsteinsson AP, Mintzer JE, Scharre DW, De La Gandara JE, Agronin M, Davis CS, Nguyen U.... (2015) Effect of Dextromethorphan-Quinidine on Agitation in Patients With Alzheimer Disease Dementia: A Randomized Clinical Trial. JAMA, 314(12), 1242-54. PMID: 26393847  

  • July 11, 2016
  • 11:41 AM
  • 572 views

When Laughing Isn't Funny

by William Yates, M.D. in Brain Posts

Inappropriate uncontrollable laughing or crying is common in many neuroscience medicine disorders including after traumatic brain injury or stroke. It can be socially embarrassing and restrict opportunities for social interaction.This loss of control over emotional responses is known by the term pseudobulbar affect or PBA. Until recently, few therapeutic options were available to treat this condition. Now a relatively new drug Nuedexta uses a combination of dextromethorphan and quinide to treat ........ Read more »

  • June 14, 2016
  • 12:18 PM
  • 536 views

Nurturing the Gifted

by William Yates, M.D. in Brain Posts

My photo of Mozart No one denies the importance of public education. Raising graduation rates and academic ability in the general population are highly accepted education system goals. Additionally, identification of learning disorders and the barriers to academic progress are the focus of many.However, the study of the gifted is perhaps no less important but this topic receives less attention and research.Matthew Makel and colleagues at Duke University and Vanderbi........ Read more »

Kell HJ, Lubinski D, Benbow CP, & Steiger JH. (2013) Creativity and technical innovation: spatial ability's unique role. Psychological science, 24(9), 1831-6. PMID: 23846718  

  • June 10, 2016
  • 06:14 AM
  • 550 views

BHD syndrome and thyroid conditions

by Joana Guedes in BHD Research Blog

Dong et al., (2016) have recently reported two BHD syndrome patients also affected with papillary thyroid cancer. Lesions were bilateral and multifocal and small lymph node metastases occurred. Due to the small number of patients in the study the authors are unsure whether thyroid cancer in BHD patients is susceptible to exhibiting bilaterally and lymph node metastasis. However, they suggest considering thyroidectomy and prophylactic lymph node dissection for thyroid cancer patients with BHD. Th........ Read more »

  • June 6, 2016
  • 11:50 AM
  • 548 views

Neuroscience Medicine: The Time Has Come

by William Yates, M.D. in Brain Posts

As basic and clinical sciences advance, it becomes increasing important to understand the role of multidisciplinary efforts in scientific progress. In this post, I propose rethinking and renaming the medically-related neuroscience disciplines into a new specialty called neuroscience medicine.Basic neuroscience research has evolved and emerged as a powerful discipline due to the increasing use of multidisciplinary research teams. Basic neuroscience involves collaboration of various scientifi........ Read more »

  • June 2, 2016
  • 12:11 PM
  • 644 views

The Future of Neuroscience Education

by William Yates, M.D. in Brain Posts

I spent the majority of my career in medical education and saw significant changes over time.One encouraging sign was the emergence of neuroscience as a respected and beneficial academic discipline.Now, a new perspective on Neuroscience Training for the 21st Center has been written by Huda Akil and colleagues. This perspective is recently published in the journal Neuron with free access to the full-text manuscript.Here are my notes from reading this perspective. Readers can access the free full-........ Read more »

Akil, H., Balice-Gordon, R., Cardozo, D., Koroshetz, W., Posey Norris, S., Sherer, T., Sherman, S., & Thiels, E. (2016) Neuroscience Training for the 21st Century. Neuron, 90(5), 917-926. DOI: 10.1016/j.neuron.2016.05.030  

  • June 1, 2016
  • 12:35 PM
  • 546 views

Pain Prevalence in Dementia

by William Yates, M.D. in Brain Posts

The development of speech and language impairment in dementia presents barriers in many clinical domains.One important clinical domain is assessment and management of pain. Dementia may preclude spontaneous or interview-elicited pain reporting.A report today in MedicalXpress noted reduced reporting of pain in patients with diabetes and cognitive impairment.I was able to locate one free full-text manuscript reviewing the prevalence of pain in various types of dementias. This literature review fou........ Read more »

van Kooten J, Binnekade TT, van der Wouden JC, Stek ML, Scherder EJ, Husebø BS, Smalbrugge M, & Hertogh CM. (2016) A Review of Pain Prevalence in Alzheimer's, Vascular, Frontotemporal and Lewy Body Dementias. Dementia and geriatric cognitive disorders, 41(3-4), 220-32. PMID: 27160163  

  • May 27, 2016
  • 10:24 AM
  • 708 views

Prenatal Smoking and Offspring Schizophrenia

by William Yates, M.D. in Brain Posts

The topic prevention of brain disorders  is commonly neglected. This is despite increasing evidence for evidence-based support for prevention opportunities.This issue is highlighted in a recent study out of Finland that examined prenatal nicotine metabolite levels and offspring diagnosis of schizophrenia.In this study, Solja Niemela and the Finnish research team examined all live births in Finland between 1983 and 1998.What makes this study powerful is the measurement of maternal serum coti........ Read more »

Niemelä, S., Sourander, A., Surcel, H., Hinkka-Yli-Salomäki, S., McKeague, I., Cheslack-Postava, K., & Brown, A. (2016) Prenatal Nicotine Exposure and Risk of Schizophrenia Among Offspring in a National Birth Cohort. American Journal of Psychiatry. DOI: 10.1176/appi.ajp.2016.15060800  

Talati A, Bao Y, Kaufman J, Shen L, Schaefer CA, & Brown AS. (2013) Maternal smoking during pregnancy and bipolar disorder in offspring. The American journal of psychiatry, 170(10), 1178-85. PMID: 24084820  

  • May 26, 2016
  • 10:02 AM
  • 610 views

Free Alcohol Use Reduction App

by William Yates, M.D. in Brain Posts

An investigational app and online program to reduce alcohol intake is now available free to the public.This tool is an application of cognitive bias modification. A link to a study supporting cognitive bias modification is noted in the citation below. Click on the PMID link to get to the abstract.The program uses a 15 minutes per day tool for four days.The program was developed at the London School of Economics by Professor Paul Dolan.Users who sign up to use the tool will be providing data to f........ Read more »

  • May 24, 2016
  • 10:44 AM
  • 545 views

Does Flu Vaccination Reduce Dementia Risk?

by William Yates, M.D. in Brain Posts

In my daily review of neuroscience news I ran across an article flu vaccination and dementia risk in heart failure.This study was reported at the 3rd World Congress on Acute Heart Failure by Dr. Ju-Chi Liu from Taipei Medical University.So how might influenza vaccination be related to dementia risk?  We do know acute influenza infection reaches the brain causing headache and increasing brain inflammation, at least temporarily. We also know brain inflammation may be involved in the mechanism........ Read more »

  • May 21, 2016
  • 10:21 AM
  • 593 views

Quick Aspirin Use Reduces Stroke Risk in TIA

by William Yates, M.D. in Brain Posts

A free full-text commentary in the Lancet summarizes recent evidence of the benefit of aspirin in stroke prevention.This commentary focused on what is called secondary prevention. Secondary prevention is defined as prevention following events related to the disease in question.So secondary prevention in stroke would be reduction in stroke risk in those who have had a stroke or pre-stroke syndromes such as transient ischemic attacks (TIA).The key take-home message from the commentary by Graeme Ha........ Read more »

  • May 19, 2016
  • 11:33 AM
  • 470 views

Language Disorder in Preschoolers

by William Yates, M.D. in Brain Posts

Well-designed large population-based studies of the prevalence and correlates of learning disabilities in preschool children are rare.A research group working out of University College London has address that issues with a large study of language disorder in a group of over 7000 4 and 5 year olds in England.A stratified group of 529 children received a comprehensive assessment of language along with assessment of IQ, social, emotional and behavior function.The study found the following important........ Read more »

  • May 17, 2016
  • 02:35 PM
  • 499 views

Nurses Frequently Attending Church Live Longer

by William Yates, M.D. in Brain Posts

The Harvard-based Nurses' Health Study has been a remarkably productive longitudinal health study.My wife has been a subject in this study and frequently completes interval questionnaires regarding her health status.A recent publication looked at the relationship between religious service attendance and mortality in the Nurses's Health Study cohort.This manuscript tried to provide a more valid look at the relationship between religiosity/spirituality and health. Previous studies have found a lin........ Read more »

  • May 16, 2016
  • 03:34 PM
  • 761 views

Novel Borrelia Species Causes Lyme Disease with High Spirochetemia

by Pranab Chatterjee in Zoonoticus

In a recent paper in the Lancet Infectious Diseases, Pritt et al  have identified a new genospecies of Borrelia which is attributed to have caused several cases of Lyme disease, marked by a high degree of spirochetemia. In their research article abstract, they state: Methods At the Mayo clinic, from 2003 to 2014, we tested […]... Read more »

  • May 11, 2016
  • 01:00 PM
  • 380 views

How to Solve Homicide Crimes

by William Yates, M.D. in Brain Posts

Homicide rates in the U.S. represent a significant public health challenge. Homicide is a top ten leading cause of death in many groups in the U.S.One method to reduce homicide rates is to quickly identify and arrest individuals who have committed homicide. This is due to the fact that individuals committing homicide have a high rate of future homicide.A recent study from Michigan State University and Indiana University examined characteristics of U.S. police departments that have high rates of ........ Read more »

  • May 10, 2016
  • 12:54 PM
  • 385 views

Smartphones and Sleep Data: Data Mining

by William Yates, M.D. in Brain Posts

Smartphones contribute a treasure trove of data that is likely to expand our knowledge of a variety of human behaviors.An example of this is a recent study published in Science Advances by a research team from the University of Michigan.The University of Michigan team developed a smartphone app called ENTRAIN and then used the app to collect sleep data on subjects from around the world.They came up with some very interesting findings including the following:The time of going to sleep appears mor........ Read more »

  • May 5, 2016
  • 02:26 PM
  • 582 views

Ketamine Metabolite Linked to Rapid Antidepressant Effect

by William Yates, M.D. in Brain Posts

Model of crytalized ketamine moleculeStandard antidepressant therapies typically take two weeks or more to begin to act.Ketamine is an anesthetic drug recently demonstrated to have a rapid antidepressant effect.The mechanism for this effect is unknown. A recent mouse study of ketamine and metabolites of ketamine show some potentially groundbreaking insight for the treatment of depression.This study found these significant findings:Ketamine like most organic compounds is made of boty an R an........ Read more »

Zanos, P., Moaddel, R., Morris, P., Georgiou, P., Fischell, J., Elmer, G., Alkondon, M., Yuan, P., Pribut, H., Singh, N.... (2016) NMDAR inhibition-independent antidepressant actions of ketamine metabolites. Nature. DOI: 10.1038/nature17998  

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