Health News

Ranking disease-causal mutations within whole genome sequences explying newly developed method

Date: Feb-11-2014
Researchers from the University of Washington and the HudsonAlpha Institute for Biotechnology have developed a new method for organizing and prioritizing genetic data. The Combined Annotation-Dependent Depletion, or CADD, method will assist scientists in their search for disease-causing mutation events in human genomes. The new method is the subject of a paper titled "A general framework for estimating the relative pathogenicity of human genetic variants," published in Nature Genetics.

Protein identified that has potential to repair damaged brain tissue in multiple sclerosis

Date: Feb-11-2014
Vittorio Gallo, PhD, Director of the Center for Neuroscience Research at Children's National Health System, and other researchers have found a "potentially novel therapeutic target" to reduce the rate of deterioration and to promote growth of brain cells damaged by multiple sclerosis (MS). Current therapies can be effective in patients with relapsing MS, but have little impact in promoting tissue growth.The brain produces new cells to repair the damage from MS years after symptoms appear.

Multicolor optogenetic toolkit to control neurons' electrical activity

Date: Feb-11-2014
Optogenetics is a technique that allows scientists to control neurons' electrical activity with light by engineering them to express light-sensitive proteins. Within the past decade, it has become a very powerful tool for discovering the functions of different types of cells in the brain.Most of these light-sensitive proteins, known as opsins, respond to light in the blue-green range.

Emergency visits and hospitalizations predicted through analysis of calls to IBD clinic

Date: Feb-11-2014
A comprehensive analysis of patient telephone records at an inflammatory bowel disease (IBD) clinic revealed that 15 percent of patients account for half of all calls to the clinic. Forty-two percent of frequent-caller patients also were seen in the emergency department or hospitalized within the following year.The results, which can help doctors identify patients with the most severe disease and those at risk of potentially avoidable high-cost medical interventions, were reported in a study published online in the journal Clinical Gastroenterology and Hepatology.

Unique regulatory T cell population identified in human skin

Date: Feb-11-2014
Regulatory T cells (Tregs) dampen the immune response against self antigens and contribute to the prevention of autoimmunity. A skin-specific population of Tregs (mTreg) has been described in mice that has properties similar to memory T cells. In mice, some mTregs are maintained in the skin for long periods of time and suppress cutaneous autoimmunity.

Genetic mutation damages DNA and alters RNA splicing in familial amyotrophic lateral sclerosis

Date: Feb-11-2014
Familial amyotrophic lateral sclerosis (FALS) is a neurological disease that has been linked to mutations in several different genes, including the gene encoding the DNA/RNA binding protein FUS. It is unclear how FUS mutations promote FALS-associated symptoms. In the issue of the Journal of Clinical Investigation, Eric Huang and colleagues of the University of California San Francisco developed a transgenic mouse model of FUS-associated FALS. FUS-R521C mice exhibited phenotypes similar to patients, such as neurological dysfunction and pronounced DNA damage.

Blocking IL-21 has potential to slow down the immune system when in overdrive

Date: Feb-11-2014
Many people suffer from chronic inflammation because their immune systems overreact to 'self' tissue. Sydney scientists believe that a small molecule known as Interleukin 21 is a promising therapeutic target in such cases.Interleukin 21 (IL-21) is one of a group of chemical messengers known as 'cytokines', which affect the behaviour of immune cells. IL-21 is already well known to play an important role in autoimmune diseases such as Sjögren's syndrome and type 1 diabetes.The current study shows how much IL-21 contributes to inflammation.

New measuring method can monitor the quality and quantity of sleep at home

Date: Feb-11-2014
Difficulty falling asleep, frequent waking, poor quality of sleep and a variety of sleep-related breathing problems are very common - they afflict approximately a third of the population."Discovering an easy way to track sleep could help improve sleep quality. The current measuring methods are uncomfortable and designed mainly for medical diagnoses, so they are unsuitable for measuring sleep independently at home," explains Joonas Paalasmaa, who defended his doctoral dissertation in computer science at the University of Helsinki, Finland.

Power imbalances between nations 'undermining global health efforts'

Date: Feb-11-2014
A joint commission from The Lancet and the University of Oslo in Norway finds that the imbalance of political power between nations is failing to protect the public's health, and calls for urgent reform in global decision making.According to the report, the differences in chances of survival between communities are not just down to poverty. It raises wider questions of socioeconomic inequality and the will to improve global governance. The Commission's chair, Prof.

What is pulmonary hypertension? What causes high blood pressure in the lungs?

Date: Feb-11-2014
Pulmonary hypertension is high blood pressure in the blood vessels that collect oxygen from the lungs.The oxygenated blood is supplied to the rest of the body via the relevant pumping chamber of the heart. Hypertension in this respiratory loop of our circulation is a progressive and serious condition.Pulmonary hypertension is not related to general hypertension, which is a separate condition of systemic high blood pressure, which affects the wider circulatory system and is measured using an arm cuff.