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CANBERRA, Sept. 7 (Xinhua) -- A team of Australian and U.S. scientists on Wednesday said they discovered a genetic defect, which can lead to Leigh syndrome, a rare disorder which affects the central nervous syndrome.The scientists tested more than 1000 genes by encoding proteins active in two individuals who suffer from the illness. They used a new technique known as next-generation DNA sequencing to examine the genes.The gene they discovered encodes an enzyme which is found in the mitochondria which are subsets of cells. Without this enzyme the mitochondria do not translate proteins efficiently, and this then causes Leigh syndrome.According to David Thorburn, from the Murdoch Children's Research Institute in Melbourne, the discovery shows the enormous potential of the new technology."These findings demonstrate the ability of sequencing technologies to improve diagnosis," Professor Thorburn said in a statement released on Wednesday."Although it isn't clear in the case of Leigh syndrome whether the precise molecular diagnosis will necessarily lead to therapies, the current findings represent a meaningful service."He added that diagnosis of the disease along with its specific genetic cause can also be informative about the risk a couple has of having another affected child. The diagnostic information can help in decisions about whether and how to pursue alternative means of having children, for instance through the use of donor sperm or eggs.The research team consisted of scientists from Australia's Murdoch Institute as well as the Broad Institute in the U.S.In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of three. The problem is that the mitochondria responsible for powering their cells cannot keep up with the demand for energy in their developing brains.
WASHINGTON, June 8 (Xinhua) -- Hundreds of small genetic variations are associated with autism spectrum disorders, including an area of DNA that may be a key to understanding why humans are social animals, according to a multi-site collaborative study led by researchers at Yale University.To be published Thursday in the journal Neuron, the study reinforces the theory that autism, a disorder that develops in early childhood involving impairments in social interaction, language deficits and distinctive behaviors, is not caused by one or two major genetic defects, but by many small variations, each associated with a small percentage of cases.The study looked at more than 1,000 families in which there was a single child with an autism spectrum disorder, an unaffected sibling and unaffected parents. The team compared individuals with autism to their siblings to determine what types of genetic changes distinguished the affected child from the unaffected child.One of the most intriguing of these findings points to the same small section of the genome that causes Williams syndrome -- a developmental disorder marked by high sociability and an unusual aptitude for music.In autism, there is an increase in the chromosomal material, an extra copy of this region, and in Williams syndrome, there's a loss of that same material," said lead author Matthew State. "What makes this observation particularly interesting is that Williams syndrome is known for a personality type that is highly empathetic, social, and sensitive to the emotional state of others. Individuals with autism often have difficulties in the opposite direction. This suggests that there is an important key in that region to understanding the nature of the social brain."State and his team also found about 30 other regions in the genome that are very likely contributing to autism and are focused on about six of those regions that showed the strongest evidence."We're now moving on to a second phase of the study looking at an additional 1,600 families and should be able to identify multiple new regions that are strongly implicated in autism," he said.

WASHINGTON, Aug. 2 (Xinhua) -- Breastfeeding protects against childhood obesity, but less than 4 percent of U.S. hospitals provide the full range of support mothers need for breastfeeding, according to a report issued by the Centers for Disease Control and Prevention Tuesday.Improving rates of breastfeeding by providing better hospital support to mothers and babies is an important strategy to improve children's health, including a reduced risk of childhood obesity, the monthly Vital Signs report said."Hospitals play a vital role in supporting a mother to be able to breastfeed," it said."Those first few hours and days that a mom and her baby spend learning to breastfeed are critical. Hospitals need to better support breastfeeding, as this is one of the most important things a mother can do for her newborn. Breastfeeding helps babies grow up healthy and reduces health care costs," it added.The report found only 14 percent of hospitals have a written and model breastfeeding policy.It also found in nearly 80 percent of hospitals, healthy breastfeeding infants are given formula when it is not medically necessary, a practice that makes it much harder for mothers and babies to learn how to breastfeed and continue breastfeeding at home.Additionally, only one-third of hospitals practise rooming in, which helps mothers and babies learn to breastfeed by allowing frequent chances to breastfeed.Finally, the report found in nearly 75 percent of hospitals, mothers and babies don't get the support they need when they leave hospitals, including a follow-up visit, a phone call from hospital staff and referrals to lactation consultants, and other important support systems in their communities.
BEIJING, Aug. 24 (Xinhuanet) -- Married patients are more likely than single ones to survive 15 years after heart surgery, according to a study online in the Health Psychology.Researchers of the study tracked 225 people who underwent coronary bypass surgery from 1987 to 1990. They found that 124 patients of them, or about 55 percent, survived for at least the next 15 years. And 61 percent of the married patients and 30 percent of the unmarried survived.Kathleen King, lead author of study, said that the close connection to another person in a marriage lengthened patients’ lives."Marriage gives you purpose in life, and feeling like you have a reason to live is an important part of doing the things you need to do to stay alive," Harry T. Reis, co-author of the study, said. "Married people also help each other; remind each other it's time to take their pills. And they probably eat healthier."However, the marriage quality had different effects on the survival odds between men and women. Men who had bypass surgery lived longer by virtue of simply being married, regardless of how happy or miserable the union, but the marriage quality had more impact on women's survival after surgery. 83 percent of the happily married women had survived, compared with 28 percent of the less happily married women and 27 percent of the single women. Among the men, 83 percent of the happily married were still alive, compared with 60 percent of the less happily married and 36 percent of the single."The most dramatic thing to me is [that] just being married, especially if you had a happy marriage, had that big an effect 15 years later," King told ABCNews.com.Marriage does not only have a positive effect on the survival of patients after heart surgery, but also benefits patients with other diseases.In recent years, a number of studies have showed several apparent health benefits of marriage. For instance, it might slightly add the odds of survival from colon cancer and help reduce pain in rheumatoid arthritis patients.
WASHINGTON, June 6 (Xinhua) -- The tropics and much of the Northern Hemisphere are likely to experience an irreversible rise in summer temperatures within the next 20 to 60 years if atmospheric greenhouse gas concentrations continue to increase, according to a new climate study by Stanford University scientists. The results will be published later this month in the journal Climatic Change.In the study, the Stanford team concluded that many tropical regions in Africa, Asia and South America could see "the permanent emergence of unprecedented summer heat" in the next two decades. Middle latitudes of Europe, China and North America -- including the United States -- are likely to undergo extreme summer temperature shifts within 60 years, the researchers found."According to our projections, large areas of the globe are likely to warm up so quickly that, by the middle of this century, even the coolest summers will be hotter than the hottest summers of the past 50 years," said the study's lead author, Noah Diffenbaugh, an assistant professor of environmental Earth system science and fellow at the Woods Institute for the Environment at Stanford. The study is co-authored by Stanford research assistant Martin Scherer."When scientists talk about global warming causing more heat waves, people often ask if that means that the hottest temperatures will become 'the new normal,'" Diffenbaugh said. " That got us thinking -- at what point can we expect the coolest seasonal temperatures to always be hotter than the historically highest temperatures for that season?"To determine the seasonal impact of global warming in coming decades, Diffenbaugh and Scherer analyzed more than 50 climate model experiments -- including computer simulations of the 21st century when global greenhouse gas concentrations are expected to increase, and simulations of the 20th century that accurately " predicted" the Earth's climate during the last 50 years. The analysis revealed that many parts of the planet could experience a permanent spike in seasonal temperatures within 60 years."We also analyzed historical data from weather stations around the world to see if the projected emergence of unprecedented heat had already begun," Diffenbaugh said. "It turns out that when we look back in time using temperature records, we find that this extreme heat emergence is occurring now, and that climate models represent the historical patterns remarkably well."According to both the climate model analysis and the historical weather data, the tropics are heating up the fastest. "We find that the most immediate increase in extreme seasonal heat occurs in the tropics, with up to 70 percent of seasons in the early 21st century (2010-2039) exceeding the late-20th century maximum," the authors wrote.Tropical regions may see the most dramatic changes first, but wide swaths of North America, China and Mediterranean Europe are also likely to enter into a new heat regime by 2070, according to the study.This dramatic shift in seasonal temperatures could have severe consequences for human health, agricultural production and ecosystem productivity, Diffenbaugh said. As an example, he pointed to record heat waves in Europe in 2003 that killed 40,000 people. He also cited studies showing that projected increases in summer temperatures in the Midwestern United States could reduce the harvest of staples, such as corn and soybeans, by more than 30 percent.
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