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'Human knockouts': Genetics in families reveals basic biology and possible therapeutics for disorders

More than 1,800 individuals carrying loss-of-function mutations in both copies of their genes, so-called "human knockouts," are described in the first major study to be published in Nature this week by an international collaboration led by the Perelman School of Medicine at the University of Pennsylvania and colleagues.

12 Apr 2017

Restriction on trans fats in foods could reduce rates of heart attack and stroke

People living in areas that restrict trans fats in foods had fewer hospitalizations for heart attack and stroke compared to residents in areas without restrictions, according to a study led by a Yale researcher.

12 Apr 2017

Lung experts develop new smartphone app for self-management of asthma

A new and unique smartphone app to help people with asthma manage their condition has been developed by lung experts at the Nottingham Respiratory Research Unit and the pharmaceutical company GlaxoSmithKline.

12 Apr 2017

Study shows um-PEA as safe and efficacious adjuvant treatment for advanced PD patients

Parkinson disease (PD) is a long-term degenerative disorder of the central nervous system that mainly affects the motor system.

12 Apr 2017

Silk garments unlikely to provide benefit for children with eczema

Wearing silk clothing offers no additional benefit for children who suffer from moderate to severe eczema, a study led by researchers at The University of Nottingham has found.

12 Apr 2017

Study reveals driver licensing rates and patterns among adolescents with ASD

A new study from Children's Hospital of Philadelphia finds one in three adolescents with autism spectrum disorder (ASD) acquires an intermediate driver's license, and the majority does so in their 17th year.

12 Apr 2017

New app offers support to clinicians on rehabilitation strategies for stroke patients

A new, first-of-its-kind app is now available to support clinicians with decisions on best practice rehabilitation strategies for patients with arm impairment due to stroke.

12 Apr 2017

Conscious sedation is viable option to general anesthesia for TAVR, UCLA study finds

UCLA scientists have found that conscious sedation - a type of anesthesia in which patients remain awake but are sleepy and pain-free - is a safe and viable option to general anesthesia for people undergoing a minimally invasive heart procedure called transcatheter aortic valve replacement.

12 Apr 2017

3D-printed models provide cost-efficient tool to improve practical experience for surgeons

Cher Zhao recently had the rare opportunity to practice skills belonging to the most advanced surgeons: reconstructive cartilage grafting.

12 Apr 2017

Investigational device aims to minimize risk of cerebral damage during TAVR

One of the most common, and most serious, heart valve diseases is aortic stenosis. Left untreated, aortic stenosis gradually diminishes quality of life and leads to heart failure and death.

12 Apr 2017

Developmental Split-Brain syndrome discovery

Our group describes a new entity, which we refer to as “Developmental Split-Brain syndrome” which we discovered affected four individuals from three unrelated families. All affected individuals showed disruption of communicating tracts between the right and left side of the brain which meant that there is lack of coordination and communication between the two sides of the brain.

12 Apr 2017

MUSC researchers provide first systemic evidence for safe use of tPA in stroke patients with SCD

Adult patients with sickle cell disease (SCD) who experience a stroke caused by a clot (i.e., ischemic strokes or IS) can be treated safely with tissue plasminogen activator (tPA) if they qualify, report investigators at the Medical University of South Carolina and elsewhere in the March 2017 issue of Stroke.

12 Apr 2017

Study may provide insight into how R-LA promotes death of hepatoma cells

A new study that measured metabolite levels over time in starved rat liver cancer cells showed that treatment with a form of alpha-lipoic acid (LA) inhibited glucose uptake and glycolysis, and led to decreased cellular glucose production from non-carbohydrate sources, which may help explain how the naturally occurring R enantiomeric form of LA (R-LA) promotes the death of hepatoma cells.

12 Apr 2017

Human Vaccines Project, VUMC and Illumina team up to decipher genetic underpinnings of immune system

The Human Vaccines Project and Vanderbilt University Medical Center (VUMC) today announced that they joined forces with Illumina, Inc., to decipher the human immunome, the genetic underpinnings of the immune system.

12 Apr 2017

PID1 gene increases killing effect of chemotherapy drugs on brain tumor cells

Investigators at The Saban Research Institute of Children's Hospital Los Angeles have found that the gene PID1 enhances killing of medulloblastoma and glioblastoma cells.

11 Apr 2017

Researchers use genetic manipulation to regenerate auditory hair cells in adult mice

In an apparent first, St. Jude Children's Research Hospital investigators have used genetic manipulation to regenerate auditory hair cells in adult mice. The research marks a possible advance in treatment of hearing loss in humans. The study appears today in the journal Cell Reports.

11 Apr 2017

Scientists discover novel therapeutic target for retinal neovascularization

A team led by Massachusetts Eye and Ear researchers has identified a novel therapeutic target for retinal neovascularization, or abnormal blood vessel growth in the retina, a hallmark of advanced diabetic eye disease (proliferative diabetic retinopathy).

11 Apr 2017

Study identifies potential link between genes and treatment response in children with CAE

Consider two children who have childhood absence epilepsy (CAE), the most common form of pediatric epilepsy. They both take the same drug--one child sees an improvement in their seizures, but the other does not.

11 Apr 2017

Scientists discover promising target to treat highly aggressive brain tumor in infants

Using state-of-the-art gene editing technology, scientists from Ann & Robert H. Lurie Children's Hospital of Chicago have discovered a promising target to treat atypical teratoid/rhabdoid tumor (AT/RT) – a highly aggressive and therapy resistant brain tumor that mostly occurs in infants.

11 Apr 2017

Researchers identify 26 novel genes linked to intellectual disability

Researchers at the Centre for Addiction and Mental Health and Queen's University have identified 26 new genes linked to intellectual disability. Currently most patients with intellectual disability receive no molecular diagnosis, which significantly affects their health and shortens their lifespan.

11 Apr 2017

Hospital News and Research

'Human knockouts': Genetics in families reveals basic biology and possible therapeutics for disorders

Restriction on trans fats in foods could reduce rates of heart attack and stroke

Lung experts develop new smartphone app for self-management of asthma

Study shows um-PEA as safe and efficacious adjuvant treatment for advanced PD patients

Silk garments unlikely to provide benefit for children with eczema

Study reveals driver licensing rates and patterns among adolescents with ASD

New app offers support to clinicians on rehabilitation strategies for stroke patients

Conscious sedation is viable option to general anesthesia for TAVR, UCLA study finds

3D-printed models provide cost-efficient tool to improve practical experience for surgeons

Investigational device aims to minimize risk of cerebral damage during TAVR

Developmental Split-Brain syndrome discovery

MUSC researchers provide first systemic evidence for safe use of tPA in stroke patients with SCD

Study may provide insight into how R-LA promotes death of hepatoma cells

Human Vaccines Project, VUMC and Illumina team up to decipher genetic underpinnings of immune system

PID1 gene increases killing effect of chemotherapy drugs on brain tumor cells

Researchers use genetic manipulation to regenerate auditory hair cells in adult mice

Scientists discover novel therapeutic target for retinal neovascularization

Study identifies potential link between genes and treatment response in children with CAE

Scientists discover promising target to treat highly aggressive brain tumor in infants

Researchers identify 26 novel genes linked to intellectual disability

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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