viernes, 31 de octubre de 2014

SAVI - Genetics Home Reference ► STING-associated vasculopathy with onset in infancy

SAVI - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions

New on the MedlinePlus Autoimmune Diseases page:
10/28/2014 11:30 PM EDT

Source: National Library of Medicine - NIH

STING-associated vasculopathy with onset in infancy

(often shortened to SAVI)
Reviewed October 2014

What is SAVI?

STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair. Excessive inflammation damages the body's own cells and tissues. Disorders such as SAVI that result from abnormally increased inflammation are known as autoinflammatory diseases.
The signs and symptoms of SAVI begin in the first few months of life, and most are related to problems with blood vessels (vasculopathy) and damage to the tissues that rely on these vessels for their blood supply. Affected infants develop areas of severely damaged skin (lesions), particularly on the face, ears, nose, fingers, and toes. These lesions begin as rashes and can progress to become wounds (ulcers) and dead tissue (necrosis). The skin problems, which worsen in cold weather, can lead to complications such as scarred ears, a hole in the tissue that separates the two nostrils (nasal septum perforation), or fingers or toes that require amputation. Individuals with SAVI also have a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. Affected individuals may also experience episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities.
In addition to problems affecting the skin, people with SAVI have recurrent low-grade fevers and swollen lymph nodes. They may also develop widespread lung damage (interstitial lung disease) that can lead to the formation of scar tissue in the lungs (pulmonary fibrosis) and difficulty breathing; these respiratory complications can become life-threatening. Rarely, muscle inflammation (myositis) and joint stiffness also occur.

How common is SAVI?

The prevalence of this condition is unknown. Only a few affected individuals have been described in the medical literature.

What genes are related to SAVI?

SAVI is caused by mutations in the TMEM173 gene. This gene provides instructions for making a protein called STING, which is involved in immune system function. STING helps produce beta-interferon, a member of a class of proteins called cytokines that promote inflammation.
The TMEM173 gene mutations that cause SAVI are described as "gain-of-function" mutations because they enhance the activity of the STING protein, leading to overproduction of beta-interferon. Abnormally high beta-interferon levels cause excessive inflammation that results in tissue damage, leading to the signs and symptoms of SAVI.
Read more about the TMEM173 gene.

How do people inherit SAVI?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, this condition likely results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of SAVI?

These resources address the diagnosis or management of SAVI and may include treatment providers.
You might also find information on the diagnosis or management of SAVI in Educational resourcesand Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about SAVI?

You may find the following resources about SAVI helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for SAVI?

  • STING-associated vasculopathy, infantile onset
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about SAVI?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding SAVI?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (9 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Universal Helmet Laws May Help Save Young Motorcyclists: MedlinePlus

Universal Helmet Laws May Help Save Young Motorcyclists: MedlinePlus

A service of the U.S. National Library of Medicine
From the National Institutes of HealthNational Institutes of Health

Universal Helmet Laws May Help Save Young Motorcyclists

Study finds more serious head injuries in states with age restrictions only or none at all
By Randy Dotinga
Wednesday, October 29, 2014
HealthDay news image
WEDNESDAY, Oct. 29, 2014 (HealthDay News) -- A new study suggests that state laws requiring "universal" motorcycle helmet use -- instead of helmet laws just for certain ages -- may lower the rates of traumatic brain injuries in young riders.
Traumatic brain injuries are "the biggest burden in trauma care, so we wanted to see whether having universal helmet laws versus age-specific helmet laws really made a difference in the younger population," study co-author Dr. Bellal Joseph, a trauma surgeon and associate professor of surgery at the University of Arizona, Tucson, said in a news release from the American College of Surgeons.
States with universal helmet rules require all motorcycle drivers and passengers to wear a helmet. The new research doesn't confirm a link between the universal motorcycle helmet laws and lower rates of serious head injuries among youths. Still, researchers said that laws requiring helmets do reduce deaths and traumatic head injuries in adults.
Nineteen states and the District of Columbia require all motorcycle riders to wear helmets. Some states require them only for those under 18 or 21, even though research shows that the highest rates of death and injury are among riders aged 20 to 24.
"We know from research that helmet use is significantly greater in states with universal laws compared to those with age-limited laws or no laws at all," lead study author Dr. K. Tinsley Anderson, a general surgery resident at the University of Arizona, said in the news release.
"What we also find is that having an age-limited law is the same as having no law at all," Anderson added. "The rates of helmet usage in those states are the same as not having a law at all."
The researchers examined a database of hospital admissions with a focus on patients who suffered traumatic brain injuries due to motorcycle accidents in 2011. They found 598 cases in 39 states.
The rate of traumatic brain injuries per motorcycle accident was lower in the states with universal helmet laws compared to those that require helmets for riders of certain ages: 307 per 1,000 in states with laws requiring helmets for those under 18 years; 366 per 1,000 in states requiring helmets for those under 21; and 282 per 1,000 in states requiring universal helmet use.
Death rates from traumatic brain injuries were also lower in states with universal helmet laws, the investigators found.
After accounting for all injuries together, the researchers said that young riders in states with universal helmet laws were 2.5 times less likely to suffer a traumatic head injury than those in states with age restrictions.
The study was released Tuesday at the annual meeting of the American College of Surgeons in San Francisco. The data and conclusions of research presented at meetings are usually considered preliminary until published in a peer-reviewed medical journal.
SOURCE: American College of Surgeons, news release, Oct. 28, 2014
More Health News on:
Motor Vehicle Safety
Traumatic Brain Injury

Is Milk Your Friend or Foe?: MedlinePlus

Is Milk Your Friend or Foe?: MedlinePlus

A service of the U.S. National Library of Medicine
From the National Institutes of HealthNational Institutes of Health

Is Milk Your Friend or Foe?

Instead of reduction in fractures, study suggests higher risk of heart disease, cancer
Wednesday, October 29, 2014
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WEDNESDAY, Oct. 29, 2014 (HealthDay News) -- Drinking lots of milk could be bad for your health, a new study reports.
Previous research has shown that the calcium in milk can help strengthen bones and prevent osteoporosis. These benefits to bone health have led U.S. health officials to recommend milk as part of a healthy diet.
But this new study found that drinking large amounts of milk did not protect men or women from bone fractures, and was linked to an overall higher risk of death during the study period.
However, the researchers said the results should be viewed with caution.
Women who drank three glasses of milk or more every day had a nearly doubled risk of death and cardiovascular disease, and a 44 percent increased risk of cancer compared to women who drank less than one glass per day, the researchers found.
Men's overall risk of death increased about 10 percent when they drank three or more glasses of milk daily, said the study, published online Oct. 28 in BMJ.
"The study findings have, for myself, been strong enough to cut down on my milk consumption," said lead author Karl Michaelsson, a professor in the department of surgical sciences at Uppsala University in Sweden.
Still, the findings only suggest an association and not a direct link, said Mary Schooling, a professor at the City University of New York School of Public Health, who wrote an editorial accompanying the study.
People should not change their diet based on these findings, Schooling said.
"We can't draw conclusions at this point," she said. "We need a study involving people who genetically can and can't digest milk easily, and compare whether those who can digest milk have a difference in cardiovascular disease, death and fractures from those who can't."
The study involved more than 61,000 women and 45,000 men in Sweden who previously filled out dietary questionnaires for other research projects, the women in the late 1980s and the men in 1997. All were over 39 years of age.
Researchers compared their reported milk-drinking habits to health data kept by Swedish officials, to see whether milk consumption could be linked to risk of death or health problems.
The investigators found that a large amount of milk in a daily diet did appear to be linked to an increased risk of death in both men and women during the study period.
In addition, excessive milk drinking appeared to actually increase a woman's risk of broken bones, compared with women who drank little milk.
The risk of any bone fracture increased 16 percent in women who drank three or more glasses daily, and the risk of a broken hip increased 60 percent, the findings indicated.
Lots of milk did not appear to either protect against or promote broken bones in men.
Michaelsson and his colleagues said the increased risk of death they observed could be explained by the high levels of sugars contained in milk, specifically lactose and galactose.
Galactose has been shown to prematurely age mice in the laboratory, Michaelsson said, noting that the milk sugar promotes inflammation.
By contrast, a high intake of fermented milk products with low lactose content -- such as yogurt and cheese -- was associated with reduced rates of death and fracture, particularly in women, the researchers reported.
While interesting, these findings are too preliminary to warrant a change in nutritional guidelines, said Isabel Maples, a registered dietitian in Haymarket, Va., and spokesperson for the Academy of Nutrition and Dietetics.
About 55 percent of older adults -- 44 million Americans -- either have osteoporosis or are at high risk for brittle bones, Maples said. She added that the U.S. Dietary Guidelines recommend three servings of dairy per day, not just for bone health, but also to reduce the risk of heart disease, type 2 diabetes and high blood pressure.
"They don't base the guidelines on fads. They don't base it on trends. They don't base it on what has been the traditional advice. They look at the scientific evidence," she said.
Efforts by HealthDay to reach the National Dairy Council for comment on the study were unsuccessful.
SOURCES: Karl Michaelsson, professor, department of surgical sciences, Uppsala University, Sweden; Mary Schooling, Ph.D., professor, City University of New York School of Public Health; Isabel Maples, M.Ed., R.D., registered dietitian, Haymarket, Va., and spokesperson, Academy of Nutrition and Dietetics.; Oct. 28, 2014, BMJ, online
More Health News on:
Heart Disease in Women

Plastics' Chemical May Affect Baby Boys' Genital Development: MedlinePlus

Plastics' Chemical May Affect Baby Boys' Genital Development: MedlinePlus

A service of the U.S. National Library of Medicine
From the National Institutes of HealthNational Institutes of Health

Plastics' Chemical May Affect Baby Boys' Genital Development

Link between phthalates and possible defect needs more study, researcher says
Wednesday, October 29, 2014
HealthDay news image
WEDNESDAY, Oct. 29, 2014 (HealthDay News) -- Exposure to a common plastics' chemical during pregnancy may have effects on genital development in baby boys, a small study hints.
Researchers found that baby boys born to moms with greater exposure to a chemical called DiNP tended to have a shorter anogenital distance -- the space between the genitals and anus. Anogenital distance is set in the womb, and it's considered a marker of exposure to androgens ("male" hormones) during pregnancy.
The researchers said their findings, published online Oct. 29 in Environmental Health Perspectives, add to concerns about the possible effects of certain plasticizers on the male reproductive system.
But the authors also acknowledged that the study points to a correlation between DiNP and boys' anogenital distance -- and not necessarily a cause-and-effect relationship.
"We need more studies," said Shanna Swan, a professor of preventive medicine at the Mount Sinai School of Medicine in New York City. "This is one study of a small number of boys."
Still, she said the findings are in line with some research on certain other chemicals in the same group -- known collectively as phthalates.
Phthalates are added to plastics to make them more flexible and difficult to break. They are used in a huge range of products, from electrical cables, auto parts and construction materials to cosmetics, shoes and toys (though U.S. manufacturers stopped using them in pacifiers, teething rings and rattles in 1999). People can also be exposed to low levels of phthalates in food, since much of the food supply comes in contact with plastics.
It's not clear whether phthalates affect human health, according to the U.S. Centers for Disease Control and Prevention.
But animal research has suggested that some phthalates can disrupt normal hormone activity. And a recent study of over 2,000 Americans linked higher phthalate exposure to lower testosterone levels in boys and middle-aged adults.
Swan said questions about DiNP's potential effects are particularly important because the chemical is being increasingly used. In fact, she noted, DiNP has become a "substitute" for an older phthalate -- known as DEHP -- due to concerns about that chemical's safety.
But the American Chemistry Council (ACC), an industry trade group, denied that DiNP has effects on people's hormonal activity.
"As the researchers themselves indicate [in the report], the Chronic Hazard Advisory Panel to the U.S. Consumer Product Safety Commission has concluded that DiNP is a weak anti-androgen in experimental animals," the ACC said in a written response to the findings.
"It produces effects in rats at dose levels that are over 100,000 times higher than typical human exposures," the group added.
For the study, Swan's team measured the anogenital distance in almost 200 Swedish boys, who were 21 months old, on average. They also analyzed urine samples taken from the boys' mothers during the first trimester of pregnancy -- looking for the metabolic byproducts of 10 different phthalates.
In general, the researchers found, the higher moms' phthalate levels were, the shorter their babies' anogenital distance. The link was strongest when it came to DiNP levels.
But why would anogenital distance matter? Swan said shorter distance has been linked to lower fertility in adult men -- though the reasons for the connection are unclear.
And, she noted, "the $64,000 question" is whether baby boys with a shorter anogenital distance maintain that characteristic throughout life.
The other big question is whether phthalates are the true reason for the current findings. "Could it be other chemicals in the environment, or factors other than manmade chemicals?" Swan said.
That cannot be ruled out, she acknowledged. But she also said the findings call into question the process by which one phthalate is phased out due to safety questions, then replaced with another.
"It seems there has to be a better way to do this," Swan said.
The ACC, however, disputed the idea that any type of phthalate, at the public's typical exposure levels, has ill health effects.
"Phthalates have been thoroughly studied and reviewed by a number of government scientific agencies and regulatory bodies worldwide, and these agencies have concluded that phthalates used in commercial products do not pose a risk to human health at typical exposure levels," the group said.
For people who want to limit their phthalate exposure, Swan suggested eating fewer processed foods and more "whole" foods. She said they can also avoid storing and microwaving foods in recyclable plastic containers; containers with the recycling codes 3, 6 or 7 can contain phthalates or another chemical called BPA.
SOURCES: Shanna Swan, Ph.D., professor, preventive medicine, Mount Sinai Icahn School of Medicine, New York City; American Chemistry Council, High Phthalates Panel, written statement; Oct. 29, 2014, Environmental Health Perspectives, online
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Reproductive Hazards

Women Often Ignore Signs of Heart Trouble: MedlinePlus

Women Often Ignore Signs of Heart Trouble: MedlinePlus

A service of the U.S. National Library of Medicine
From the National Institutes of HealthNational Institutes of Health

Women Often Ignore Signs of Heart Trouble

Study finds they're more likely than men to delay seeking medical help
By Randy Dotinga
Wednesday, October 29, 2014
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Related MedlinePlus Page
WEDNESDAY, Oct. 29, 2014 (HealthDay News) -- When it comes to heart disease, a new study finds women are more likely than men to delay care when they have symptoms that spell trouble.
"The main danger is that when someone comes to the hospital with a more severe or advanced stage of heart disease, there are simply fewer treatment options available," study author Catherine Kreatsoulas, a Fulbright Scholar and research fellow at the Harvard School of Public Health, said in a news release from the Heart and Stroke Foundation of Canada.
In the study, researchers talked to patients who sought medical care for angina and were waiting to undergo angiogram tests to look for signs of coronary artery disease. Angina, or chest pain, occurs when the heart doesn't get as much blood and oxygen as it needs because of a blockage in the heart's arteries.
The researchers found that men acted more quickly when they developed symptoms and spent less time denying the symptoms existed or dismissing them as not important enough to require immediate care.
"Women displayed more of an optimistic bias, feeling that the symptoms would pass and get better on their own," Kreatsoulas said. "When women feel even a small improvement in symptoms, they seem to dismiss them for a longer period of time."
Previous research suggests that women are more likely to worry about being out of commission due to medical care, "and not necessarily as concerned about the best treatment options," Kreatsoulas added.
The research was to be presented Tuesday at the Canadian Cardiovascular Congress in Vancouver. Research released at conferences should be considered preliminary until it goes through the peer review process required to be published in major medical journals.
SOURCE: Heart and Stroke Foundation of Canada, news release, Oct. 28, 2014
More Health News on:
Heart Disease in Women

Can Lots of Sex Protect the Prostate?: MedlinePlus

Can Lots of Sex Protect the Prostate?: MedlinePlus

A service of the U.S. National Library of Medicine
From the National Institutes of HealthNational Institutes of Health

Can Lots of Sex Protect the Prostate?

Men who sleep with plenty of women less likely to develop cancer in the gland, study suggests
Wednesday, October 29, 2014
Related MedlinePlus Pages
WEDNESDAY, Oct. 29, 2014 (HealthDay News) -- Don Juans of the world, take note: Men who sleep with lots of women may be less likely to develop prostate cancer than men who don't play the field, a new Canadian study suggests.
Researchers said they found that Montreal-area men who'd had more than 20 female sex partners in their lifetime had a 28 percent reduced risk of prostate cancer, compared with men who only ever slept with one woman.
Previous studies have suggested that frequent ejaculation can protect against prostate cancer, said senior study author Marie-Elise Parent, an associate professor at the University of Montreal School of Public Health. One possible explanation: the beneficial effect might be due to a reduction in the concentration of cancer-causing substances in prostatic fluid, the researchers said.
But don't bolt for the bedroom just yet. Parent termed the findings preliminary. And she added that they don't prove multiple partners protect against the disease, just that a link was uncovered between the two. So, men shouldn't use the findings as an excuse to sleep around.
"I don't think we can say that. But I think men want to hear that," she said. "It shouldn't be for prostate cancer that a man would decide to do that."
Dr. David Samadi, chairman of urology at Lenox Hill Hospital in New York City, agreed that the protective benefits found in this study come "not so much from the number of partners, but the frequency of ejaculation."
The study revealed some other intriguing associations.
For instance, men who said they'd never had sexual intercourse were almost twice as likely to be diagnosed with prostate cancer as those who said they had intercourse.
The researchers also found that a man's risk of prostate cancer increased if he only slept with men. Having more than 20 male partners in one's lifetime doubled the risk of prostate cancer, compared to men who never slept with another man.
Parent noted, though, that the findings regarding gay sex weren't statistically significant and certainly require further research.
The new study, published Oct. 28 in the journal Cancer Epidemiology, is part of a larger effort by Parent and her colleagues to examine the possible causes of prostate cancer.
"We're asking questions about everything you can think of under the sun," she said. "This is only one segment out of many, many others that we are investigating."
For the study, more than 3,200 men in the Montreal area responded to a comprehensive questionnaire that covered many aspects of their lives, including their sex life. About half had been diagnosed with prostate cancer between September 2005 and August 2009, while the rest formed the healthy control group.
The greater the number of female sex partners, the greater protection from prostate cancer, the findings suggested. For example, men who slept with between eight and 20 women had an 11 percent reduced risk of prostate cancer, compared with a 28 percent reduced risk for men with more than 20 female partners.
Men with more than 20 female partners also had a 32 percent reduced risk for less aggressive forms of prostate tumors and a 19 percent reduced risk for more aggressive prostate tumors, the researchers found.
Conversely, men who had more than 20 male sex partners had a more than five-fold increased risk of less aggressive prostate cancer, and a 26 percent increased risk of more aggressive prostate cancer, compared with men who only had one male partner.
The researchers speculated that this might be due to more risky sexual behaviors among gay men, or because of physical trauma to the prostate gland.
Samadi said such trauma to the prostate could actually increase detection of minor prostate cancer, by spurring the prostate to release the protein prostate-specific antigen, or PSA. Tests that check the level of PSA in a man's blood are often used to diagnose and monitor prostate cancer.
SOURCES: Marie-Elise Parent, associate professor, University of Montreal School of Public Health; David Samadi, M.D., chairman of urology, Lenox Hill Hospital, New York City; Oct. 28, 2014, Cancer Epidemiology
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Sexual Health