Body

Glycogen storage disease type IIIa: shared genetic mutation for disease in Inuit

A team of researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal). The paper identifies a mutation in the gene encoding the glycogen debranching enzyme (AGL), which had previously been undetected in a decade of investigation by the same authors.

Gut microbes trigger autoimmune disease later in life in mice

Researchers have revealed that the colonization of the gut of young mice by certain types of bacteria can lead to immune responses later in life that are linked to disease. Increases in the levels of segmented filamentous bacteria can trigger changes in the lymphoid tissue of the mouse gut that result in the production of antibodies that attack components of the cell nucleus. This type of damage is a hallmark of autoimmune diseases like systemic lupus erythematosus and systemic sclerosis where organs throughout the body are damaged by wayward immune responses.

To beet or not to beet? Is juice worthwhile?

Athletes who down beet juice before exercising to increase blood flow and improve performance may be surprised at the results of a recent study conducted at Penn State's Noll Laboratory. While beetroot juice rich in nitrates did not enhance muscle blood flow or vascular dilation during exercise, researchers found that it did "de-stiffen" blood vessels under resting conditions, potentially easing the workload of the heart.

New genetic clues found in fragile X syndrome

Scientists have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms.

Use of episiotomy surgical procedure to facilitate child birth declines

Between 2006 and 2012 in the U.S., there was a decline in rates of episiotomy, a surgical procedure for widening the outlet of the birth canal to make it easier for the mother to give birth, according to a study in the January 13 issue of JAMA.

Damaged DNA amplified

In the majority of cases, the onset of cancer is characterized by a minor change in a person's genetic material. A cell's DNA mutates in a particular area to the extent that the cell no longer divides in a controlled manner, but begins to grow uncontrollably. In many cases, this type of genetic mutation involves chemical changes to individual building blocks of DNA.

Lassa fever controls and the role of super spreaders

One in five cases of Lassa fever - a disease that kills around 5,000 people a year in West Africa - could be due to human-to-human transmission, with a large proportion of these cases caused by 'super-spreaders', according to a new paper.

What role do cytokines have in breast cancer?

Emerging data on the role of inflammation and the immune system in the development, growth, and spread of breast tumors have focused increased attention on the role cytokines such as interleukin and transforming growth factor-β play in breast cancer initiation, protection, and metastasis.

A comprehensive overview of this new knowledge and its potential to lead to novel therapeutic approaches is presented in a Review article in Journal of Interferon & Cytokine Research.

BPA exposure affects heart health of male and female mice differently

Heart function and blood pressure in mice exposed to bisphenol A (BPA) from birth though young adulthood are affected differently in males and females, with females at greater risk of damage from stress, a study from a University of Cincinnati (UC) researcher has found.

Is it possible to reset our biological clocks?

Imagine being able to easily get over all of the discomfort and problems of jet lag or night-shift work. Science is not quite there, but recent work by Marc Cuesta, Nicolas Cermakian and Diane B. Boivin from the Douglas Mental Health University Institute and McGill University has opened new therapeutic avenues for improving the synchronization of the body's different biological clocks.

Episiotomy during childbirth is not just a 'little snip'

Episiotomies have a place in maternity care but should not be routinely performed. Paul Curto, CC BY-NC-SA

Bone stem cells shown to regenerate bones and cartilage in adult mice

A stem cell capable of regenerating both bone and cartilage has been identified in bone marrow of mice. The discovery by researchers at Columbia University Medical Center (CUMC) is reported today in the online issue of the journal Cell.

Vitamin D protects against colorectal cancer by boosting the immune system

A new study demonstrates that vitamin D can protect some people with colorectal cancer by perking up the immune system's vigilance against tumor cells.

The research, published today by the journal Gut, represents the first time that a link between vitamin D and the immune response to cancer has been shown in a large human population. The finding adds to a growing body of research showing that vitamin D - known as the "sunshine vitamin" because it is produced by the body in response to sunlight exposure - plays a key role in cancer prevention.

For minority women, healthy diet associated with lower risk of type 2 diabetes

Consuming a healthy diet was associated with reduced risk for type 2 diabetes among women in all racial and ethnic groups but conferred an even greater benefit for Asian, Hispanic, and black women, according to a new study by researchers at Harvard T.H. Chan School of Public Health and Brigham and Women's Hospital.

Is lower stress the secret to finding empathy for others?

How is it that people can sometimes show such empathy when other times our ability to feel compassion seems to be in such short supply? A study published in the Cell Press journal Current Biology on January 15 shows that stress is a major factor.

A drug that blocks stress hormones increases the ability of college students and mice to "feel" the pain of a stranger, the study shows. That phenomenon, known as "emotional contagion of pain," is one form of empathy. In even better news, a shared round of the video game Rock Band worked just as well as the drugs among those undergrads.