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Fatal Copper Disorder Can Now Be Detected At Birth

A new test could greatly extend the survival of infants with Menkes disease, a rare, otherwise fatal disorder of copper metabolism. The test allows for early diagnosis of the condition, when the chance for successful treatment is greatest.

Cells Identified That Cause Nervous System Disease

Scientists have tracked down the cells responsible for neurofibromatosis type 1, a disfiguring, incurable condition and one of the most common hereditary disorders. Neurofibromatosis type 1, or NF1, is a peripheral nervous system condition that afflicts one in 3,500 Americans. Symptoms normally begin to appear by age 10. Though most cases are mild, the disease can lead to disfigurement, learning disabilities, blindness, skeletal abnormalities, loss of limbs and, occasionally, lethal malignancies.

Impaired Fat-burning Gene Worsens Diabetes, Study Shows

Researchers have discovered new cellular mechanisms that lead to in insulin resistance in people with diabetes. The research team identified a 'fat-burning' gene, the products of which are required to maintain the cells insulin sensitivity. They also discovered that this gene is reduced in muscle tissue from people with high blood sugar and type 2-diabetes.

Knee Brace Generates Electricity From Walking

A new energy-capturing knee brace can generate enough electricity from walking to operate a portable GPS locator, a cell phone, a motorized prosthetic joint or an implanted neurotransmitter. The researcher, who called the device "a cocktail-napkin idea," says knee joints are uniquely suited for this endeavor.

Bug Guts Map Brings Scientists Closer To Understanding Different Bugs' Role In The Body

Scientists have made a major step towards understanding precisely which bugs in the gut are involved in which processes in the body, by mapping the different species of bugs living in seven members of the same Chinese family.

Babies Recently Treated With Lotion, Shampoo, And Powder More Likely To Have Phthalates Chemicals In Urine

Babies recently treated with infant personal care products such as lotion, shampoo, and powder, were more likely to have manmade chemicals called phthalates in their urine than other babies. Phthalates (pronounced "thah-lates") are added to many personal care and cosmetic products, as well many common household plastic and vinyl products, and some studies suggest they may affect reproductive development in humans. Phthalate exposure in early childhood has been associated with altered hormone concentrations as well as increased allergies, runny nose, and eczema.

Novel Compound May Lessen Heart Attack Damage, Initial Tests Show

A novel drug designed to lessen muscle damage from a heart attack has passed initial safety tests in humans. Researchers said that many people may not realize that the heart suffers damage at two major points in a heart attack: first, when a blockage in a coronary artery prevents blood and oxygen from getting to the heart, and then again when the patient undergoes PCI and normal blood flow is restored through reperfusion.

Third Cousins Have Greatest Number Of Offspring, Data From Iceland Shows

Scientists have established a substantial and consistent positive correlation between the kinship of couples and the number of children and grandchildren they have. The study, which analyzes more than 200 years of deCODE's comprehensive genalogical data on the population of Iceland, shows that couples related at the level of third cousins have the greatest number of offspring.

Natural Secretion Marks Difference Between Mole And Melanoma

One might call it a tale of two melanocytes. Given the same genetic mutation, why does one melanocyte shut down growth and become a relatively benign mole, while another rages out of control and develops into deadly melanoma?

'Good Bacteria' In Women Give Clues For Slowing HIV Transmission

Beneficial bacteria found in healthy women help to reduce the amount of vaginal HIV among HIV-infected women and make it more difficult for the virus to spread, boosting the possibility that "good bacteria" might someday be tapped in the fight against HIV.

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