New cause of child brain tumor condition identified
2014-12-02
(Press-News.org) Gorlin syndrome causes an increased risk of developing cancers of the skin and, rarely, in the brain. Around 1 in 30,000 people has the condition.
Most people with Gorlin syndrome have a change in a gene called PTCH1, but the new research has revealed that changes in a gene called SUFU also cause Gorlin syndrome and it is children with a change in SUFU that are 20 times more likely to develop a brain tumour.
Dr Miriam Smith, a lecturer in cancer genomics from the University's Institute of Human Development led the research, which was also carried out with The Christie NHS Foundation Trust and the Royal Manchester Children's Hospital. She said: "We have essentially found a new cause of Gorlin syndrome, but one that results in the specific outcome of a childhood brain tumour called a medulloblastoma in small children."
The researchers at Manchester identified mutations in the SUFU gene as a cause of Gorlin syndrome in families with at least one person affected by a medulloblastoma. They compared the risk of developing a medulloblastoma for people with SUFU-related Gorlin syndrome to the risk for people with a PTCH1 mutation and found that those with the PTCH1 changes had around a 2% risk of developing the brain tumours, but in those with the SUFU changes it was around 33%.
The findings, published in the Journal of Clinical Oncology, have major implications for the way in which children with Gorlin syndrome are treated and how frequently they require brain scans. Currently all children with Gorlin syndrome regardless of whether the changed gene is SUFU or PTCH1 are scanned once a year up to the age of eight.
INFORMATION:
The research was funded by the British Skin Foundation.
The paper, 'Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations' was published in the Journal of Clinical Oncology.
ELSE PRESS RELEASES FROM THIS DATE:
2014-12-02
Whereas most adults are members of the Clean Plate Club, they eat an average of about 90% of the food they serve themselves, this is not true for children.
New Cornell research aggregated six different studies of 326 elementary school-aged children. It showed that, if their parents are not around, the average child only eats about 60% of what they serve themselves. More than a third goes right in the trash.
Unlike adults, kids are still learning about what foods they like and how much it will take to fill them up. "It's natural, for them to make some ...
2014-12-02
Vitamin D supplements can reduce COPD lung disease flare-ups by over 40% in patients with a vitamin D deficiency - according to new research from Queen Mary University of London. COPD (chronic obstructive pulmonary disease) includes conditions such as chronic bronchitis and emphysema, and is thought to affect more than 3 million people in the UK.
The NIHR-funded randomised trial, published in the journal Lancet Respiratory Medicine, included 240 patients with COPD in and around London. Half of the patients (122) received vitamin D supplements (6 x 2-monthly oral doses ...
2014-12-02
Muslim communities may not be as victimised by violent crime, or as dissatisfied with the police as is widely suggested and believed, according to new research by a Cambridge academic.
An examination of statistics taken from the Crime Survey of England and Wales between 2006 and 2010 reveals a surprising counter-narrative to commonly-held perceptions of British Muslim communities and their relationships to crime victimization and the criminal justice system.
Analysis of crime data generated by nearly 5,000 Muslims reveals few differences between Muslims and non-Muslims ...
2014-12-02
People diagnosed with diabetes in midlife are more likely to experience significant memory and cognitive problems during the next 20 years than those with healthy blood sugar levels, new Johns Hopkins Bloomberg School of Public Health research suggests.
The researchers found that diabetes appears to age the mind roughly five years faster beyond the normal effects of aging. For example, on average, a 60-year-old with diabetes experiences cognitive decline on par with a healthy 65-year-old aging normally. Decline in memory, word recall and executive function is strongly ...
2014-12-02
1. Better glucose control in midlife may protect against cognitive decline later in life
Having diabetes or prediabetes in midlife is associated with a greater risk for cognitive decline later in life, according to a study published in Annals of Internal Medicine. Approximately 10 percent of the U.S. population has type 2 diabetes, putting them at risk for several adverse health outcomes, including dementia. Cognitive decline is a precursor to dementia. Hemoglobin A1c (HbA1c) level is a measure of the average circulating glucose level in the blood over the preceding 2 ...
2014-12-02
While policymakers and health care professionals have identified health information exchanges -- organizations that facilitate the sharing of patient medical information electronically between different organizations -- as a promising solution to fragmented health care delivery in the United States, a RAND Corporation review found that few of the more than 100 such organizations have been evaluated.
The relatively few exchanges that have been examined show some evidence of reducing emergency department costs and usage, but other outcomes are unknown, according to the ...
2014-12-02
Over 75 million adults in the US are obese. These individuals are predisposed to health complications, including diabetes, heart disease, and cancer. Gastric bypass surgery results in dramatic weight loss and can improve diabetes symptoms in obese patients. A new study in the Journal of Clinical Investigation reveals that exercise following bypass surgery provides additional benefit for obese patients. Bret Goodpaster and colleagues at the University of Pittsburgh conducted a study on individuals that had recently undergone gastric bypass surgery. One group followed a moderate ...
2014-12-02
Premature ovarian failure (POF) is estimated to affect 1-4% of the female population. Women with POF can present with a variety of symptoms and many genes have been linked to this condition. A new study in the Journal of Clinical Investigation identifies a specific mutation in a family that results in POF. Aleksandar Rajkovic and colleagues at the University of Pittsburgh studied 3 sisters with POF-associated symptoms and identified and mutation in MCM8, a gene involved in chromosome maintenance. Siblings without the MCM8 mutation did not have any signs of POF. Cells from ...
2014-12-02
ORLANDO, Fla., December 1, 2014 - A new study by researchers at the Florida Hospital - Sanford-Burnham Translational Research Institute for Metabolism and Diabetes (TRI-MD) shows that patients who moderately exercise after bariatric surgery (weight-loss surgery) gain additional health improvements in glucose metabolism and cardiorespiratory fitness compared to patients who lead a sedentary lifestyle after surgery. The findings confirm the physiological and potential clinical benefits of adding an exercise regime following weight-loss surgery.
"This is the first randomized, ...
2014-12-02
(NEW YORK - December 1, 2014) Kidneys donated by people born with a small variation in the code of a key gene may be more likely, once in the transplant recipient, to accumulate scar tissue that contributes to kidney failure, according to a study led by researchers at the Icahn School of Medicine at Mount Sinai and published today in the Journal of Clinical Investigation.
If further studies prove the variation to cause fibrosis (scarring) in the kidneys of transplant recipients, researchers may be able to use it to better screen potential donors and improve transplant ...
LAST 30 PRESS RELEASES:
[Press-News.org] New cause of child brain tumor condition identified
