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Important new blood test for Niemann-Pick disease type C, a devastating rare disease

Date: Feb-05-2014
A new blood test for a rare and devastating illness called Niemann-Pick disease type C (NPC) has been developed by a team of researchers led by Professor Frances Platt, University of Oxford.The results of the research, funded by children's charity Action Medical Research, are discussed in a paper now published in the Journal of Clinical Investigation.NPC is part of a large group of over 50 rare, inherited diseases called lysosomal storage disorders. When lysosomes within the cell do not work properly waste molecules build up, leading to progressive damage to nerve cells.

Queen's University cancer specialist's drive to improve survival rates for every European citizen

Date: Feb-05-2014
Queen's University Belfast's world renowned cancer specialist, Professor Patrick Johnston, whose work has transformed cancer care in Northern Ireland, is now leading efforts to improve survival rates across Europe.At the forefront of cancer research for the last twenty-five years, Professor Johnston's leadership has seen cancer survival rates in Northern Ireland move from the bottom of the UK league table to near the top.

Does the term 'research-based' keep parents in the dark?

Date: Feb-05-2014
Does applying the term 'research-based' to parental advice automatically provide a stamp of authority? A commentary paper published in the Journal of Children and Media suggests that parents and caregivers are frequently misled into an 'ignorance trap' by recommendations which are based on ill-informed research.The risk of ambiguous parental advice is a hazard across health and education journalism, but seems to particularly affect the reporting on media and children.

Is institutional racism happening in our hospitals?

Date: Feb-05-2014
In a personal view published on bmj.com, a medical director reflects on a case in which a hospital accepted the choice of the parents of a patient, who wanted only white doctors to treat their child.Dr Nadeem Moghal, from George Eliot Hospital in Warwickshire, draws on the Macpherson report (the police investigation which took place following Stephen Laurence's murder) defining institutional racism as "the collective failure of an organisation to provide an appropriate and professional service to people because of their colour, culture, or ethnic origin".

High sodium intake correlates with obesity, inflammation

Date: Feb-05-2014
Most adolescents consume as much salt as adults - some more than twice the recommended daily allowance - and that high sodium intake correlates with fatness and inflammation regardless of how many calories they consume, researchers report.In a study of 766 healthy teens, 97 percent self-reported exceeding the American Heart Association's recommendation of consuming less than 1,500 milligrams of sodium daily, according to a study in the journal Pediatrics."The majority of studies in humans show the more food you eat, the more salt you consume, the fatter you are," said Dr.

It's written all over our faces : humans express 4 basic emotions

Date: Feb-05-2014
Human beings are emotional creatures whose state of mind can usually be observed through their facial expressions.A commonly-held belief, first proposed by Dr Paul Ekman, posits there are six basic emotions which are universally recognised and easily interpreted through specific facial expressions, regardless of language or culture. These are: happiness, sadness, fear, anger, surprise and disgust.New research published in the journal Current Biology by scientists at the University of Glasgow has challenged this view, and suggested that there are only four basic emotions.

Ethics experts study the transition from paediatric to adult health care services

Date: Feb-05-2014
In a study published by the medical journal Paediatrics & Child Health, IRCM researchers address shortcomings in transitional care in the Canadian healthcare system. The team led by Eric Racine and Emily Bell, Montréal neuroethics experts, identified important challenges in the transition from paediatric to adult health care, especially among youth with neurodevelopmental disabilities (such as autism spectrum disorders, fetal alcohol spectrum disorders and cerebral palsy).

Noninvasive prenatal testing detects more than 80 percent of chromosomal abnormalities

Date: Feb-05-2014
In a study to be presented on Feb. 6 at 9 a.m. CST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting™, in New Orleans, researchers will report that noninvasive prenatal testing detected 83.2 percent of chromosomal abnormalities normally picked up by invasive diagnostic testing strategies, such as chorionic villus sampling (CVS) or amniocentesis. Noninvasive prenatal testing (NIPT) using cell free DNA provides accurate screening for the common trisomies, including trisomy 13 (Patau syndrome), 18 (Edwards syndrome), and 21 (Down syndrome).

Improved understanding of cancer offered by cell division finding

Date: Feb-05-2014
New insights into how the cells in our bodies divide could improve our knowledge of a condition linked to cancer, a study suggests.Errors in the cell division process - which allows us to grow and stay healthy - can lead to a genetic disorder called aneuploidy, which is also associated with birth defects and infertility.Researchers at the University of Edinburgh have pinpointed the key role played by a protein in ensuring that cells separate correctly.During cell division, chromosomes containing our DNA duplicate and then separate to form two identical copies of the original cell.

Throughout life our brains fine-tune their wiring

Date: Feb-05-2014
The white matter microstructure, the communication pathways of the brain, continues to develop/mature as one ages. Studies link age-related differences in white matter microstructure to specific cognitive abilities in childhood and adulthood.Most prior studies, however, did not include individuals from the entire life span or evaluated a limited section of white matter tracts. This knowledge gap prompted a new study published this week in Biological Psychiatry.Dr.