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  • May 26, 2017
  • 11:42 AM
  • 24 views

Adolescent Brain Development

by William Yates, M.D. in Brain Posts

Functional magnetic resonance imaging yields improvement in our understanding of brain development.A recent study out of the University of Pennsylvania is a good example. This study examined the relationship between brain connectivity and the development of cognitive executive function.The researchers imaged a group of 882 subjects between the ages of 8 and 22.Brain connectivity patterns were compared with a neurocognitive assessment of executive function. Executive function increases with age t........ Read more »

Graham L. Baum, Rastko Ciric, David R. Roalf, Richard F. Betzel, Tyler M. Moore, Russel T. Shinohara, Ari E. Kahn, Megan Quarmley, Philip A. Cook, Mark A. Elliot.... (2016) Modular Segregation of Structural Brain Networks Supports the Development of Executive Function in Youth. Current Biology. arXiv: 1608.03619v1

  • May 26, 2017
  • 05:08 AM
  • 29 views

The PI3K/mTOR inhibitor GSK2126458 is effective for treating TSC solid renal tumours

by Joana Guedes in BHD Research Blog

Tuberous sclerosis (TSC) is an inherited tumour syndrome that shares clinical similarities with Birt-Hogg-Dube Syndrome. It is caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma (RCC) can occur. Tumour reduction in TSC patients after treatment with rapamycin, an inhibitor of mTOR, is partial and reversible probably due to feedback activ........ Read more »

  • May 19, 2017
  • 05:13 AM
  • 96 views

Characterization of a FLCN mutation associated with RCC

by Joana Guedes in BHD Research Blog

Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by renal cell carcinoma (RCC), pneumothorax and fibrofolliculomas. In their new study, Bartram et al. (2017) identify a heterozygous mutation in the FLCN gene in a patient with RCC. DNA from tumour and a metastasis was analysed and the authors demonstrated skipping of exon 11 as the consequence of this mutation leading to a shift in the reading frame and the insertion of a premature sto........ Read more »

Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S.... (2017) Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC medical genetics, 18(1), 53. PMID: 28499369  

  • May 17, 2017
  • 11:24 AM
  • 101 views

Dad's Impact in Infant Development

by William Yates, M.D. in Brain Posts

Mother's interaction with their infants play a key role in infant development.The independent role of fathers in infant development is less well known and studied.A recent study from the United Kingdom supports a important role for father-child interactions in infant development.Here are the main elements of the design of this study:Subjects: Families of infants with typical deliveries were recruited from maternity wards in two hospitals in the United Kingdom.Design: Home assessments were comple........ Read more »

  • April 20, 2017
  • 05:19 AM
  • 251 views

DHM attenuates obesity-induced slow-twitch-fiber decrease via FLCN/FNIP1/AMPK pathway

by Joana Guedes in BHD Research Blog

Obesity is often associated with decreases in the proportion of skeletal muscle slow-twitch fibers and insulin sensitivity. Slow-twitch fibers are rich in mitochondria and utilize fatty acid oxidative phosphorylation for energy production. In their new study, Zhou et al. (2017) explore the role of the FLCN/FNIP1/AMPK signalling pathway in obesity-induced reductions in slow-twitch fibers and insulin sensitivity in skeletal muscle using high-fat-diet-induced (HFD) obese mice, ob/ob mutant mice, an........ Read more »

  • April 7, 2017
  • 06:22 AM
  • 267 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 3, 2017
  • 10:23 AM
  • 288 views

Financial Scam Vulnerability: Brain Risk Factors

by William Yates, M.D. in Brain Posts

It is always frustrating when you hear about a financial scam that has target a vulnerable population like the elderly population.Elderly individuals may be targeted for a variety of reasons. First, they often have financial resources. Second, they may be a generally more trustworthy group increasing risk for falling for a scam. Third, elderly may suffer from some age-related brain changes that impair cognition and judgment.A recent research study suggests specific brain deficits may increase vu........ Read more »

  • March 27, 2017
  • 12:07 PM
  • 300 views

Theory of Mind in Brain Development

by William Yates, M.D. in Brain Posts

Theory of Mind (ToM) is a concept describing the ability to understand what another person is thinking or feeling.Today in my neuroscience medicine news review I ran across a novel, interesting and important research study targeting brain development in ToM.Normally developing children develop ToM around 4 years of age. In the study published in Nature Communications, a research team at the Max Planck Institute in Germany studied white matter development in 3 to 4 year old children.Using a serie........ Read more »

  • March 20, 2017
  • 11:25 AM
  • 302 views

Opioids, Benzos and Risk for Overdose

by William Yates, M.D. in Brain Posts

The evolving epidemic of opioid overdose and overdose deaths is receiving increased public and research attention.Opioids overdoses and overdose deaths are often unintentional or accidental. It has been known that concurrent use of opioids with alcohol or benzodiazepines (i.e. Valium or Xanax) increases risk for overdose toxicity.A recent study published in the British Medical Journal confirmed the association of concurrent benzodiazepine prescription with opioid overdose.This research team exam........ Read more »

  • March 15, 2017
  • 12:57 PM
  • 329 views

Emotional Intelligence and the Physician

by William Yates, M.D. in Brain Posts

Emotional intelligence (EI) is characterized by the ability to recognize emotional states in self and in others.This emotional recognition may be helpful in guiding behavior and in improving interpersonal relationships.It seems logical on a face validity level to assume that higher levels of EI would be good in the selection of students for medical school.However, there are few studies assessing EI in physicians. There are fewer studies that examine whether EI influences physician behavior, pati........ Read more »

  • March 10, 2017
  • 06:05 AM
  • 275 views

Spontaneous Pneumothorax and air travel in BHD Syndrome

by Joana Guedes in BHD Research Blog

Previous studies show that BHD syndrome causes spontaneous pneumothorax (SP) in 24-38% of patients, with a recurrence rate of up to 75% (Toro et al., 2007; Toro et al., 2008; Houweling et al., 2011). A common preventative strategy used following an initial SP in patients with BHD is pleurodesis, however, its efficacy in preventing recurrent episodes is not well known. Due to the pressure changes during air travel, cystic air spaces expand and compress in the thorax possibly leading to cyst ruptu........ Read more »

Gupta N, Kopras EJ, Henske EP, James LE, El-Chemaly S, Veeraraghavan S, Drake MG, & McCormack FX. (2017) Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. Annals of the American Thoracic Society. PMID: 28248571  

  • March 7, 2017
  • 11:01 AM
  • 313 views

Can Older Drivers Benefit From Training?

by William Yates, M.D. in Brain Posts

Older drivers are over-represented in motor-vehicle driving accidents.The lowest rate of fatal vehicle crashes per 100 million miles driven is found in drivers between the ages of 30-69 years of age.Fatal vehicle driving rates per miles driven is 4 to 5 times higher in drivers over 80 years of age. (IIHS.org data)So can older drivers be trained or educated to improve their safety (and the safety o those around them)?A recent randomized controlled trial examined an educational intervention in dri........ Read more »

  • March 2, 2017
  • 12:19 PM
  • 313 views

Improving Hearing-Aid Access in Older Adults

by William Yates, M.D. in Brain Posts

There are significant barriers to widespread use of hearing-aids in older adults with age-related hearing loss.Sensitivity to the stigma of wearing a hearing-aid is one barrier.Cost is another significant barrier. In the U.S., bilateral hearing-aid purchase amounts to a cost of $2400 to $5800. This cost is typically not covered by Medicare or other health insurance plans.I ran into a interesting manuscript on looking at an alternative less costlier approach to hearing-aid selection and purchase......... Read more »

  • February 28, 2017
  • 10:43 AM
  • 318 views

Outcome in Early Education Interventions (Educare)

by William Yates, M.D. in Brain Posts

Despite centuries of experience in education, the best time to start formal education is still under debate. Is five years of age too old? Is three years of age too early?One issue with early education interventions is the potential for catch-up in children starting school later. In other words, early gains with younger children may evaporate overtime.One recent research study examines effectiveness of a child development intervention known as Educare. Educare seeks to reduce the achievement gap........ Read more »

Yazejian, N., Bryant, D., Hans, S., Horm, D., St. Clair, L., File, N., & Burchinal, M. (2017) Child and Parenting Outcomes After 1 Year of Educare. Child Development. DOI: 10.1111/cdev.12688  

  • February 10, 2017
  • 07:19 AM
  • 330 views

BHD in patients undergoing chest CT and characteristics of BHD in Korea.

by Joana Guedes in BHD Research Blog

To date, there have been no prospective studies attempting to diagnose BHD syndrome or literature reviews on BHD in Korea. Park et al. (2017) address this in their new study that aims to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to classify the characteristics of BHD in Korea.... Read more »

  • February 3, 2017
  • 11:22 AM
  • 212 views

Brain Shape and Personality Type

by William Yates, M.D. in Brain Posts

Personality has often been conceptualized a a human feature shaped largely by nurture and environment.Unlike major neuroscience medicine disorders, personality features have been considered less influenced by brain structure and genetic influences.A recent brain structure (morphology) study puts these assumptions at risk.Roberta Riccelli along with colleagues in Italy and Florida State University studied brain structural features across 507 participants in the Human Connectome Project.All subjec........ Read more »

  • January 27, 2017
  • 05:13 AM
  • 563 views

TSC1 expression is affected by VHL alterations and HIF-1α production in clear-cell RCC

by Joana Guedes in BHD Research Blog

VHL genetic alterations do not affect the production of HIF-α in clear-cell renal cell carcinoma (ccRCC). However, their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expression are currently unknown. In a recent study, Damjanovic et al. (2016) evaluated the impact of VHL genetic alterations and HIF-α production on the expression of TSC proteins and Hsp90 in 47 sporadic ccRCCs and corresponding normal tissues.... Read more »

  • January 25, 2017
  • 12:06 PM
  • 438 views

Jet Lag and Baseball (MLB) Performance

by William Yates, M.D. in Brain Posts

Abrupt changes in the biological clock or circadian rhythm are noted to contribute to significant cognitive and psychomotor impairments.One practical area for this effect to potentially be important is in the area of sports performance.Alex Song and colleagues recently completed an interesting study of major league baseball (MLB) performance related to team travel patterns.The major leagues are divided into regional divisions (western, central and eastern) to minimize length of travel to and fro........ Read more »

Song A, Severini T, & Allada R. (2017) How jet lag impairs Major League Baseball performance. Proceedings of the National Academy of Sciences of the United States of America. PMID: 28115724  

  • January 23, 2017
  • 10:59 AM
  • 395 views

Processing Speed Cognition in Elderly: Clinical Trial

by William Yates, M.D. in Brain Posts

Processing speed declines significantly with age and contributes to impairment and disability in old age.There is little known about whether age-related processing speed decline can be slowed with interventionA recent clinical trial by a Japanese group targeted processing speed training in a group of 72 elderly.This study found significant effects for a daily 15 minute processing speed training game over 4 weeks.In contrast to a control group, the intervention group found specific improvement in........ Read more »

  • January 20, 2017
  • 05:19 AM
  • 395 views

RCC: Updates on Guidelines for Adjuvant Therapy and new drug combination

by Joana Guedes in BHD Research Blog

The European Association of Urology (EAU) Renal Cell Carcinoma (RCC) guidelines panel has recently updated its recommendation on adjuvant therapy with sunitinib in non-metastatic RCC after surgical tumour removal (Bex et al., 2016). These clinical guidelines provide urologists with evidence-based information and recommendations for the management of RCC and the panel includes urological surgeons, oncologists, pathologists, radiologists and patient advocates. Based on the conflicting results of t........ Read more »

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