Studies Explore Gene Mutations in Autism

Changes (mutations) in genes that affect only a child, not the parents, may account for some cases of autism, 3 new studies find. The changes occur in the sperm or egg around the time the child is conceived. Fathers are 4 times as likely to pass on these mutations as mothers, 1 study found. This occurred most often with fathers age 35 or older. Three different teams of researchers did the studies. They took a close look at the DNA in blood samples from families that included a child with autism. Neither the parents nor the other children were affected. The 3 studies included a total of 549 families. In all, hundreds of mutations were found in the autistic children and not in their parents or siblings. Most occurred in only 1 child. But mutations in some genes were found in multiple children and in 2 or more of the studies.

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Study: Some Overtreated after Mammogram

About 15% to 25% of breast cancers found after a mammogram do not need to be treated, a new study estimates. But no one knows for sure which tumors are the bad ones. So some women get treatment they don’t need, the study authors say. The study looked at results of a mammogram screening program in Norway. Women ages 50 to 69 were offered testing every 2 years. Some areas of the country began regular screening earlier than others. Researchers compared cancer rates in areas that started early with those that started later. They estimated that the program prevented 1 death from breast cancer for every 2,500 women offered screening. But they also estimated that 6 to 10 women of every 2,500 got treatment they didn’t need. The journal Annals of Internal Medicine published the study. The Associated Press wrote about it April 3.

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Autism Progress, Mom’s Education Linked

Some children with autism can become much more able to function over time, a new study finds. And the mother’s race and education make a big difference in which children improve. Researchers reached these conclusions based on records for nearly 7,000 California children. They looked at how well kids were able to function when they were diagnosed. They were divided into low, medium and high function groups based on their symptoms. The focus was on 3 areas. How well did they communicate? Could they get along with others and have friends? Did they have many repeated behaviors? Researchers also tracked changes over time. Most children improved in communication and social skills. Repeated behaviors tended to stay the same. But about 10% improved so much that they moved from low to high functioning.

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Extra Tests Find More Breast Cancers

Adding other tests to a mammogram may help to find more breast cancers in some high-risk women, a new study suggests. The study included nearly 2,700 women. All of them had dense breast tissue, which increases breast cancer risk. Each woman also had at least one other factor that increased her risk, such as certain genes. Everyone received a mammogram and an ultrasound each year for 3 years. On average, for every 1,000 women, the ultrasound found 4.3 cancers each year that the mammogram did not find. Some of the women also agreed to have a magnetic resonance imaging (MRI) scan. This was done soon after the third annual mammogram. For every 1,000 women, the MRI found 14.7 additional cancers. However, the ultrasound and MRI tests also increased the number of false-positive results. These were suspicious results that turned out not to be cancer.

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Personalizing Drug Therapy

A bedside genetic test can predict which drugs will work best in heart patients. About 200 people were in the study. All of them had angioplasty to open a clogged artery. Half received a genetic test to see if they would respond to the drug clopidogrel. People who would not respond were given other drugs. The other half were all given standard treatment with aspirin and clopidogrel. The bedside genetic test identified all of the people who would not respond to clopidogrel. In the other group, 30% did not respond to clopidogrel. This is the first study to validate a bedside genetic test for personalization of drug therapy. It was published in the Lancet March 29. HealthDay News wrote about it.

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Promising Drugs For Psoriasis

Two new drugs show promise in treating psoriasis, a long-term skin condition that can cause itching, flaking and pain. About 3 of every 100 people in the United States have psoriasis. Both studies used molecules that block a protein called IL-17. This protein helps to cause skin inflammation. It is found at high levels in the blood of people with psoriasis. One study involved 198 people. All had moderate to severe psoriasis. They were randomly divided into groups. Some groups got injections of a drug called brodalumab, which blocks the action of IL-17. Others got placebo injections. After 16 weeks, the drug dramatically reduced symptoms. In some cases, no signs of psoriasis existed. The second study involved 142 people with moderate to severe psoriasis. They received either six injections of a drug called ixekizumab, or placebo injections.

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Anti-Clotting Drug Works For Heart Rhythm Problem

The drug warfarin can reduce the risk of stroke in people with a heart rhythm problem, says a review of eight studies. In people with atrial fibrillation, the upper chambers of the heart don’t pump properly. Blood collects in them, and can clot. The drug warfarin helps to prevent these clots, which can get stuck in blood vessels and lead to a stroke. Researchers from the Cleveland Clinic looked at information from more than 32,000 people. Some took warfarin (also known as Coumadin) and others took newer anti-clotting drugs. Warfarin is effective, but the dose must be adjusted to balance the risk of clotting and the risk of bleeding. Warfarin dose adjustments have gotten easier and the new drugs are quite expensive, said the study authors, so warfarin will likely remain the drug of choice for some time.

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Prolonged Sitting As A Health Risk

People who sit for more than 11 hours a day have a 40% increased risk of dying over the next 3 years, compared with people who sit for fewer than 4 hours a day. This holds true even for people who exercise regularly, a study has found. An Australian group did the study. It included self-reported information from more than 220,000 adults ages 45 and older. Mortality rates were 40% higher for people who sat for more than 11 hours a day, and 15% higher for people who sat for 8 to 11 hours a day. Researchers took exercise, weight and general health into account. They note that the study does not prove that sitting causes the risk. People who sit for long periods may be less healthy or have other issues that make it difficult for them to stand or walk. The study followed people for only 3 years. It also used information that the people reported themselves.

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More SIDS Risk Factors Explained

The Back to Sleep campaign reduced deaths from sudden infant death syndrome (SIDS), but other risk factors also exist. A study collected information on risk factors from 568 infants who died from SIDS between 1991 and 2008. They found that 99% of the infants with SIDS had at least one of seven risk factors. About 57% had three risk factors. The risk factors were male gender, African-American race, having a mother who smoked or drank while pregnant, sleeping on the stomach or side, sleeping in an adult bed or sharing a bed, overheating, having the head covered by bedding and having an upper respiratory infection. The study was published in Pediatrics.

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Diabetes Prevention Cuts Health Care Costs

Programs to prevent type 2 diabetes can lower people’s health care costs over time, a new study finds. The new analysis took a close look at data from the Diabetes Prevention Program. That study explored ways to prevent type 2 diabetes. Everyone in the study had a high risk of developing the disease. One group made changes in diet and exercised more. They aimed for a 7% weight loss. People in this group lowered their risk of type 2 diabetes 58%. Another group took the drug metformin. Their chance of developing diabetes was 31% lower than for those who got placebo (fake) pills. The new study looked at 10-year health care costs for all 3 groups. This included the costs of the program and medicine, plus other health care. Costs averaged $27,915 per person for the metformin group and $28,236 for the placebo group.

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