Researchers identify a therapeutic strategy that may treat a childhood neurological disorder
UT Southwestern Medical Center researchers have identified a possible therapy to treat neurofibromatosis type 1 or NF1. (Source: UT Southwestern Medical Center News)
Source: UT Southwestern Medical Center News - December 16, 2014 Category: Hospital Management Source Type: news
Therapeutic strategy may treat childhood neurological disorder
A possible therapy to treat neurofibromatosis type 1 or NF1, a childhood neurological disease characterized by learning deficits and autism, has been discovered by scientists. "Children with neurofibromatosis have a high incidence of intellectual deficits and autism, syndromes that have been linked to the cerebellum and cortex," said the lead investigator. "Our findings in these mouse models suggest that despite embryonic loss of the gene, therapies after birth may be able to reverse some aspects of the disease." (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - December 15, 2014 Category: Science Source Type: news
UTSW researchers identify a therapeutic strategy that may treat a childhood neurological disorder
(UT Southwestern Medical Center) University of Texas Southwestern Medical Center researchers have identified a possible therapy to treat neurofibromatosis type 1, a childhood neurological disease characterized by learning deficits and autism. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 15, 2014 Category: Global & Universal Source Type: news
Statins reverse learning disabilities caused by genetic disorder
UCLA scientists have discovered that statins, a popular class of cholesterol drugs, reverse the learning disabilities caused by a genetic disorder called Noonan syndrome.
Their findings were published online Nov. 10 by the journal Nature Neuroscience.
The disorder, which is caused by a genetic mutation, can disrupt a child’s development in many ways. It often causes unusual facial features, short stature, heart defects and developmental delays, including learning disabilities. No treatment is currently available.
“Noonan syndrome affects 1 in 2,000 people, and up to half of these patients struggle with learning disabi...
Source: UCLA Newsroom: Health Sciences - November 15, 2014 Category: Universities & Medical Training Source Type: news
Reclusive Charlotte Hawkins covered in tumours learns to live with appearance
When Charlotte Hawkins, 64, from Georgia, was 15 she first noticed a lumpy patch of skin at the bottom of her back. Today, she lives with America's worst case of the incurable Type 1 neurofibromatosis. (Source: the Mail online | Health)
Source: the Mail online | Health - September 30, 2014 Category: Consumer Health News Source Type: news
Zebrafish Model of a Learning and Memory Disorder Shows Better Way to Target Treatment
Using a zebrafish model of a human genetic disease called neurofibromatosis, researchers have found that the learning and memory components of the disorder are distinct features that will likely need different treatment approaches. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - September 14, 2014 Category: Science Source Type: news
Scripps Research Institute scientists link alcohol-dependence gene to neurotransmitter
(Scripps Research Institute) Scientists at The Scripps Research Institute have solved the mystery of why a specific signaling pathway can be associated with alcohol dependence. This signaling pathway is regulated by a gene, called neurofibromatosis type 1 (Nf1), which TSRI scientists found is linked with excessive drinking in mice. The new research shows Nf1 regulates gamma-aminobutyric acid, a neurotransmitter that lowers anxiety and increases feelings of relaxation. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 27, 2014 Category: Global & Universal Source Type: news
Novel treatment strengthens bones in genetic disease neurofibromatosis type-1
An enzyme therapy may prevent skeletal abnormalities associated with the genetic disorder neurofibromatosis type-1, investigators have discovered. The researchers demonstrated in a mouse model of the disorder that the enzyme asfotase-alpha improves bone growth, mineralization and strength. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - August 14, 2014 Category: Science Source Type: news
Novel treatment strengthens bones in genetic disease neurofibromatosis type-1
(Vanderbilt University Medical Center) An enzyme therapy may prevent skeletal abnormalities associated with the genetic disorder neurofibromatosis type-1, Vanderbilt investigators have discovered.The researchers demonstrated in a mouse model of the disorder that the enzyme asfotase-alpha improves bone growth, mineralization and strength. Their findings are published in the August issue of Nature Medicine. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - August 14, 2014 Category: Biology Source Type: news
Johns Hopkins Announces Winners of Francis S. Collins Scholar Award - 6/9/14
Two early career physician-scientists, Peter de Blank and Matthew R. Steensma, have been named inaugural winners of the Francis S. Collins Scholars Program in Neurofibromatosis Clinical and Translational Research, sponsored by the Neurofibromatosis Therapeutic Acceleration Program (NTAP) at The Johns Hopkins University. (Source: Johns Hopkins Medicine News)
Source: Johns Hopkins Medicine News - June 9, 2014 Category: Research Source Type: news
Make the Diagnosis: Shoulder Pain
(MedPage Today) -- A thirty-eight-year-old woman presented with a two-year history of atraumatic pain in the left shoulder. The pain was insidious in onset, diffuse and dull, nonradiating, nonprogressive, present with activity, and particularly acute when lying on her left side. Constitutional and neurological symptoms were absent. The patient had been diagnosed with neurofibromatosis-1 at eight months of age and subsequently presented as a child with a congenital pseudarthrosis of the tibia, which required surgery. (Source: MedPage Today Geriatrics)
Source: MedPage Today Geriatrics - April 28, 2014 Category: Geriatrics Source Type: news
Adam Pearson hopes to beat prejudice after Under The Skin
If I were to play a Bond Villain, I’d want to be evil for the way I behaved and not the way I looked, writes Neurofibromatosis sufferer ADAM PEARSON. (Source: the Mail online | Health)
Source: the Mail online | Health - March 30, 2014 Category: Consumer Health News Source Type: news
Neurofibromatosis sufferer who filmed nude with Scarlett Johansson
Adam Pearson, 26, has the genetic disorder neurofibromatosis, but that did not stop him from shedding his clothes in front of Scar-Jo. (Source: the Mail online | Health)
Source: the Mail online | Health - March 23, 2014 Category: Consumer Health News Source Type: news
Study finds increased gender variance in children with autism and ADHD
(Children's National Medical Center) John F. Strang, Psy.D., a pediatric neuropsychologist at Children's National Health System, and colleagues, found that children with autism spectrum disorders or attention deficit hyperactivity disorder were more likely to exhibit gender variance, the wish to be the other gender, than children with no neurodevelopmental disorder, or a medical neurodevelopmental disorder such as epilepsy or neurofibromatosis. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - March 12, 2014 Category: Global & Universal Source Type: news
Neurofibromatosis in a Toddler With Back PainNeurofibromatosis in a Toddler With Back Pain
Neurofibromatosis is a rare genetic disorder. What are the common symptoms and the diagnostic criteria for this disease? Journal of Pediatric Health Care (Source: Medscape Transplantation Headlines)
Source: Medscape Transplantation Headlines - February 3, 2014 Category: Transplant Surgery Tags: Transplantation Journal Article Source Type: news
