Body

Gene therapy better than half-matched transplant for 'Bubble Boy disease'

New research reports that children with "bubble boy disease" who undergo gene therapy have fewer infections and hospitalizations than those receiving stem cells from a partially matched donor. The research is the first to compare outcomes among children with the rare immune disorder - also known as X-linked severe combined immunodeficiency (SCID-X1) - receiving the two therapeutic approaches.

Did Richard III keep his scoliosis a secret?

In the most famous stories of Richard III, by William Shakespeare, he was noticeably repugnant both physically and mentally.

Heart cells regenerated in mice in NGR1 study

When a heart attack strikes, heart muscle cells die and scar tissue forms, paving the way for heart failure. Cardiovascular diseases are a major cause of death worldwide, in part because the cells in our most vital organ do not get renewed. As opposed to blood, hair or skin cells that can renew themselves throughout life, our heart cells cease to divide shortly after birth, and there is very little renewal in adulthood.

Tmem231 role in maintaining ciliary function

Researchers reveal how a protein linked to Meckel syndrome (MKS) and other human diseases regulates the membrane composition of cilia, finger-like projections on the surface of cells that communicate signals. The study appears in The Journal of Cell Biology.

MKS is a rare genetic disease characterized by kidney cysts, the presence of extra fingers and toes, and defects affecting several other organs. It is part of a class of disorders known as ciliopathies, meaning that it results from defects in the structure or function of cilia.

Pediatric melanoma declines

Melanoma, an aggressive form of skin cancer, has been increasing in incidence in adults over the past 40 years. Pediatric melanoma is rare (5-6 children per million) but some studies indicate that incidence has been increasing. In a new study scheduled for publication in The Journal of Pediatrics, researchers found that the incidence of pediatric melanoma in the United States actually has decreased from 2004-2010.

Uninsured people pay far more for cancer drugs than Medicare patients

Uninsured cancer patients are asked to pay anywhere from 2 to 43 times what Medicare would pay for chemotherapy drugs, according to a new paper. Uninsured patients who did not negotiate the billed amounts could expect to pay $6,711 for an infusion of the colorectal cancer drug oxaliplatin. However, Medicare and private health plans only pay $3,090 and $3,616 for the same drug, respectively.

Can humans get norovirus from their dogs?

Human norovirus may infect our canine companions. That raises the possibility of dog-to-human transmission, said first author Sarah Caddy, VetMB, PhD, MRCVS, a veterinarian and PhD student at the University of Cambridge, and Imperial College, London, UK.

Norovirus is the leading cause of food-borne illness in the United States, according to the Centers for Disease Control and Prevention (CDC).

Protein and carbohydrate choices have big effects on weight loss (and gain)

Making small, consistent changes to the types of protein- and carbohydrate-rich foods we eat may have a big impact on long-term weight gain, according to a new study led by researchers at the Friedman School of Nutrition Science & Policy at Tufts University. The results were published on-line this week in The American Journal of Clinical Nutrition.

The genetic impact of inbreeding

Credit: Wikimedia

Our genetic cousins, mountain gorillas, have been the subject of ongoing conservation efforts for decades. Despite this there are fewer than 900 left in the wild because of poaching and habitat destruction. Now, genetic sequencing has revealed the toll these constant threats have taken on their genome.

Selenide protects heart muscle after cardiac arrest

Damage to heart muscle from insufficient blood supply during cardiac arrest and reperfusion injury after blood flow is restored can be reduced by nearly 90 percent if selenide, a form of the essential nutrient selenium, is administered intravenously in the wake of the attack, according to a new preclinical study by researchers at Fred Hutchinson Cancer Research Center. Mark Roth, Ph.D., and colleagues in the Fred Hutch Basic Sciences Division.

Delicate magnolia scent activates human pheromone receptor

The question if humans can communicate via pheromones in the same way as animals is under debate. Cell physiologists at the Ruhr-Universität Bochum have demonstrated that the odorous substance Hedione activates the putative pheromone receptor VN1R1, which occurs in the human olfactory epithelium. Together with colleagues from Dresden, the Bochum-based researchers showed that the scent of Hedione generates sex-specific activation patters in the brain, which do not occur with traditional fragrances.

Kids with neurological disorders need flu vaccines but don't always get them

Children who have neurological disorders such as cerebral palsy or epilepsy are no more likely to be vaccinated against influenza than youngsters without these conditions, despite the increased risk for complications from flu these children experience. Moreover, health care providers may not be familiar with the increased risk among these patients to effectively recommend influenza vaccine.

Those are the findings of a study by a research team from the University of Louisville and the Centers for Disease Control and Prevention published online today in the journal Vaccine.

Breast cancer treatment: PIK3CA may be focusing on the wrong mutation

A leading gene candidate that has been the target of breast cancer drug development may not be as promising as initially thought, according to a new study.

Mutation in the gene PIK3CA is the second most prevalent gene mutation in breast cancer and is found in 20% of all breast cancers. This has led people to think these changes may be driving breast cancer. Yet these mutations are also known to be present in neoplastic lesions -pre-cancerous growths many of which are thought to be benign, that have not invaded the surrounding tissue.

Shorter height is directly associated with increased risk of coronary heart disease

The shorter you are, the more your risk of coronary heart disease.

That's the key finding of a new study led by the University of Leicester which discovered that every 2.5 inches change in your height affected your risk of coronary heart disease by 13.5%. For example, compared to a 5ft 6inch tall person, a 5 foot tall person on average has a 32% higher risk of coronary heart disease because of their relatively shorter stature.

A new piece in the 'French paradox' puzzle -- cheese metabolism

Figuring out why the French have low cardiovascular disease rates despite a diet high in saturated fats has spurred research and many theories to account for this phenomenon known as the "French paradox." Most explanations focus on wine and lifestyle, but a key role could belong to another French staple: cheese. The evidence, say scientists in ACS' Journal of Agricultural and Food Chemistry, is in cheese metabolism.