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May 04
Extreme abnormal fetal growth linked to autism risk
Babies whose growth is at either extreme in the womb, either very small or very large, are at greater risk of developing autism, a new study has revealed.

It is the first time that a clear link has been made between babies who grow to above average size at birth and risk of Autism Spectrum Disorder and follows from a study of more than 40,000 child health records in Sweden.

The research, led by The University of Manchester, also confirmed earlier research which reported that premature and poorly grown, low weight babies appear more susceptible to the condition.

Autism affects how individuals interact with the world and with other people and there is no known cure. Researchers believe it has origins in both genetic and environmental causes.

Professor Kathryn Abel, from the University`s Centre for Women`s Mental Health and Institute of Brain, Behaviour and Mental Health, who led the research said: "The processes that leads to ASD probably begin during fetal life; signs of the disorder can occur as early as three years of age. Fetal growth is influenced by genetic and non-genetic factors. A detailed understanding of how fetal growth is controlled and the ways in which it is associated with ASD are therefore important if we are to advance the search for cures.

Researchers looked at data from the Stockholm Youth Cohort in Sweden, where early ultrasound dating provides detailed weights of the baby`s progression in pregnancy. Infants and children then also take part in structured clinical assessments of their social, motor, language and cognitive abilities.

The cohort contained records of 589,114 children aged 0-17 in Sweden between 2001 and 2007. Certain child data was removed, including children too young to have a diagnosis for ASD, adopted children and non Swedish or Stockholm County residents, children not born in Sweden and twins.

From the remaining available data, researchers found 4,283 young people with autism and 36,588 who did not have the condition and who acted as the control.

The study found that bigger babies who were born weighing over 4.5kg (or 9lb 14) showed a higher incidence of autism, as did smaller infants who were born weighing less than 2.5kg (5.5lb).

A baby who had poor fetal growth would therefore have a 63 percent greater risk of developing autism compared to normally grown babies. A baby who was large at birth would have a 60 percent greater risk. This effect was independent of whether or not the baby was born pre or post term.

Professor Abel added: "We think that this increase in risk associated with extreme abnormal growth of the fetus shows that something is going wrong during development, possibly with the function of the placenta.

"Anything which encourages abnormalities of development and growth is likely to also affect development of the baby`s brain. Risk appeared particularly high in those babies where they were growing poorly and continued in utero until after 40 weeks. This may be because these infants were exposed the longest to unhealthy conditions within the mother`s womb," she stated.
The research was published in The American Journal of Psychiatry this month.

May 04
Gene mutations behind Myopia identified
Mutations in a gene that helps regulate copper and oxygen levels in eye tissue are associated with a severe form of nearsightedness, according to a study at Duke Medicine.

Nearsightedness - also known as myopia - is the most common human eye disease in the world. It occurs if the eye is too long or the cornea has too much curvature, which keeps light entering the eye from focusing correctly.

High-grade myopia, a more severe form of nearsightedness, affects up to two percent of Americans and is especially common in Asian populations. Individuals with high-grade myopia are at an increased risk for other serious eye problems, including retinal detachment, cataracts and glaucoma.

Studies suggest that myopia is caused by a combination of environmental factors, such as large amounts of reading, and genetics. Nearsightedness runs in families, but little is understood about genetic factors that cause it.

In recent years, researchers have reported several genes or locations of genes associated with myopia, and have continued to search for additional clues.

"This is the first time a gene mutation for autosomal dominant nonsyndromic high-grade myopia in Caucasians has been discovered," said senior author Terri Young, M.D., MBA, professor of ophthalmology, pediatrics and medicine at the Duke Eye Center, Duke Center for Human Genetics and the Duke-National University of Singapore Graduate Medical School (Duke-NUS).

In this study, Young and her colleagues sought to identify these genetic factors by studying families with high-grade myopia. They performed next-generation deep sequencing on four relatives from an 11-member American family of European descent.

Analyzing DNA extracted from blood and saliva, the researchers identified mutations in the SCO2 gene in common among family members with high-grade myopia, but absent in those family members with no myopia. They confirmed four mutations in the SCO2 gene in an additional 140 people with high-grade myopia.

May 03
Genetic cause for migraine discovered
Brigham Young University chemistry professor Emily Bates has identified mutations in a gene that makes people more susceptible to migraine headaches.

The study is the first demonstration of a genetic cause for the common migraine and is an important step in the search for a cure.

"I had migraines really frequently and severely. I would lose my vision, vomit uncontrollably - it would wipe out an entire day," Bates said.

She decided then as a high school student that she was going to work on migraines, that she was going to figure them out and help find a cure.

After earning a Ph.D. in genetics from Harvard, Bates did post-doctoral research with a team of geneticists led by Louis Ptacek at University of California San Francisco`s medical school.

This gene hunting party worked with two families that appeared to have a dominantly inherited form of the affliction.

The researchers zeroed in on genetic mutations these families had in common - mutations that affect production of a protein known as casein kinase delta.

To test whether this was a cause or a coincidence, Bates designed an experiment to determine whether the same genetic trait led to migraine symptoms in mice.

"All sensations become amplified with migraines, including touch, heat, sound and light," Bates, who continued work on the project when she took a position at BYU in 2009, said.

The researchers observed this heightened sensitivity in the migraine mice in very subtle ways - from the warmth of a tiny light and the pressure of a single hair-like filament.

The findings are set to be published in Science Translational Medicine.

May 03
Progressive coronary artery calcium buildup ups risk of heart attack and death
A growing buildup of coronary artery calcium puts patients at increased risk of heart attack and death from heart disease, according to a new study.

The study found that patients with increasing accumulations of coronary artery calcium were more than six times more likely to suffer from a heart attack or die from heart disease than patients who didn`t have increasing accumulations.

The study, conducted at Los Angeles Biomedical Research Institute (LA BioMed) and five other sites, suggests more frequent monitoring of patients with coronary artery calcium accumulations could help determine the risk of heart attacks and give those patients time to make changes to reduce the risk.

For the study, researchers measured the coronary artery calcium in a diverse group of 6,778 persons aged 45 to 84 years from the MESA (Multi-Ethnic Study of Atherosclerosis) study. The participants had no history of coronary heart disease prior to enrolling the MESA study.

Researchers found that nearly half of the participants had coronary artery calcium in their initial scans - and most of them continued to accumulate coronary artery calcium, as measured in subsequent CT (computed tomography) scans approximately 2.5 years later.

For those with the greatest increase in coronary artery calcium buildup (300 units or more), the study found a more than six-fold increase in coronary heart disease incidents independent of other risk factors for heart disease.

"We have known that coronary artery calcium can be related to heart disease, but this study shows the progression of the accumulation of the calcium in the arteries can be a significant factor in evaluating the risk that a patient may suffer a heart attack in the future," said Matthew Budoff, MD, the primary author of the study and an LA BioMed principal investigator and director of Cardiac CT.

"By conducting serial CT scans, we may be able to identify people at high risk of a heart attack and intervene to prevent that heart attack through new therapies, lifestyle changes and other modifications. Further study is needed to determine if more frequent CT scans would be a cost-effective approach to reducing coronary heart disease, the No. 1 cause of death for both men and women in the U.S," he noted.
The study was published in the Journal of the American College of Cardiology.

May 02
More vitamin D may not confer any benefit
A new research from Johns Hopkins has found that blood levels of vitamin D or so-called "sunshine vitamin" higher than the top of the range suggested by the Institute of Medicine confer no additional benefit.

This finding, combined with results of a previous study by the same group noting potential harm from higher vitamin D levels in healthy people, has urged investigators to prescribe caution.

"Healthy people have been popping these pills, but they should not continue taking vitamin D supplements unchecked," said study leader Muhammad Amer, M.D., M.H.S., an assistant professor in the Division of General Internal Medicine at the Johns Hopkins University School of Medicine.

"At a certain point, more vitamin D no longer confers any survival benefit, so taking these expensive supplements is at best a waste of money," he added.

Amer stresses that there are some groups of people - elderly, postmenopausal women, and people with kidney disease - who do benefit from higher blood levels of a vitamin vital to bone health. Such groups may need to take supplements.

Amer and Rehan Qayyum, M.D., M.H.S., also of Johns Hopkins, conducted a review of data from more than 10,000 participants in the National Health and Nutrition Examination Survey (NHANES) from 2001 to 2004. They matched those data with mortality data from the National Death Index through Dec. 2006.

When they looked at deaths from all causes and cardiovascular disease specifically, those with blood levels of 21 nanograms per milliliter of 25-Hydroxyvitamin D - at the top of the range that the IOM considers "adequate" and at the low end of "normal" - cut their risk of death in half. Above 21 nanograms per milliliters, the data suggest that the protective effect appears to wear off.

The primary source of vitamin D is the sun, and although it is found naturally in very few foods, commercially sold milk is usually fortified with it.

Amer said as people spend more and more time indoors and slather their bodies with sunscreen when outdoors, concern is rising that many are vitamin D-deficient. But he stated that there is no set amount of supplementation that can bring someone up to 21 nanograms per milliliter because the way people process vitamins varies.

In research published in January 2012 in the American Journal of Cardiology, Amer and Qayyum found that increasing levels of vitamin D in the blood are linked with lower levels of a popular marker for cardiovascular inflammation - c-reactive protein (also known as CRP).

Beyond blood levels of 21 nanograms per milliliter, any additional increase in vitamin D was associated with an increase in CRP, a factor linked to stiffening of the blood vessels and an increased risk of cardiovascular problems.

The team`s unpublished research also suggests a link between excess vitamin D and elevated homocysteine levels, another danger sign for cardiovascular disease.

People should consult with their doctors, Amer said, before starting vitamin D supplements and should have their blood levels checked.

The researchers described their work in an article published online in the American Journal of Medicine .

May 02
People with unsupportive spouses likelier to develop depression
People are better off not having a spouse than having poor relationship with one, a new study by U-M researchers has found.

After analyzing data from nearly 5,000 American adults, the researchers found that the quality of a person`s relationships with a spouse, family and friends predicted the likelihood of major depression disorder in the future, regardless of how frequently their social interactions took place.

Individuals with strained and unsupportive spouses were significantly more likely to develop depression, whereas those without a spouse were at no increased risk. And those with the lowest quality relationships had more than double the risk of depression than those with the best relationships.

The study assessed the quality of social relationships on depression over a 10-year period, and is one of the first to examine the issue in a large, broad population over such a long time period.

Nearly 16 percent of Americans experience major depression disorder at some point in their lives, and the condition can increase the risk for and worsen conditions like coronary artery disease, stroke and cancer.

"Our study shows that the quality of social relationships is a significant risk factor for major depression," said psychiatrist Alan Teo, M.D., M.S., a Robert Wood Johnson Foundation Clinical Scholar at U-M and the study`s lead author.

Digging deeper into the results, the researchers found that certain positive and negative aspects of relationships also predicted depression. Social strain and a lack of support - especially in spousal relationships and to some extent with family members - were both risk factors for developing depression later.

"These results tell us that health care providers need to remember that patients` relationships with their loved ones likely play a central role in their medical care," Teo said.

"They also suggest that the broader use of couples therapy might be considered, both as a treatment for depression and as a preventative measure," he added.

While the results confirmed the researchers` assumptions about relationship quality, they did not find a correlation between the frequency of social interactions and the prevalence of depression as predicted. Even if participants were socially isolated, having few interactions with family and friends, it did not predict depression risk. Teo said that this finding should also translate to mental health treatment considerations.

"Asking a patient how she rates her relationship with her husband, rather than simply asking whether she has one, should be a priority," Teo stated.

The study was published online in PLOS ONE.

May 01
Secondhand smoke lowers 'good' cholesterol level: Study
When exposed to secondhand smoke at home, teenage girls tend to have lower levels of the "good" form of cholesterol that reduces heart disease risk, according to a recent study.

High-density lipoproteins (HDL) pick up excess cholesterol in the blood stream and take it to the liver where it can be broken down. Unlike low-density lipoproteins that can create a waxy build-up that blocks blood vessels, HDL cholesterol can play a key role in combatting heart disease risk.

"In our study, we found 17-year-old girls raised in households where passive smoking occurred were more likely to experience declines in HDL cholesterol levels," said the study`s lead author, Chi Le-Ha, MD, of the University of Western Australia.

"Secondhand smoke did not have the same impact on teenage boys of the same age, which suggests passive smoking exposure may be more harmful to girls. Considering cardiovascular disease is the leading cause of death in women in the western world, this is a serious concern," the researcher added.

Researchers studied a longitudinal birth cohort of 1,057 adolescents who were born between 1989 and 1992 in Perth, Australia. The study gathered information about smoking in the household beginning at 18 weeks gestation and leading up to when the children turned 17. During that time, 48 percent of the participants were exposed to secondhand smoke at home. Blood tests were performed to measure the teenagers` cholesterol levels.

"The findings indicate childhood passive smoke exposure may be a more significant cardiovascular risk factor for women than men," Le-Ha said.

The study has been accepted for publication in The Endocrine Society`s Journal of Clinical Endocrinology and Metabolism (JCEM).

May 01
New blood test could predict Alzheimer's risk
Scientists in Australia are working on a blood test that could lead to routine screening for Alzheimer`s disease.

They have identified blood-based signs of plaque in the brain that could alert doctors to the disease long before symptoms appear and irreversible brain damage has occurred.

"Early detection is critical. It gives people a much better chance of receiving treatment before it`s too late," researcher Dr Samantha Burnham from CSIRO`s Preventative Health Flagship said.

Dr Burnham hopes the breakthrough will lead to routine age-based testing in five to 10 years.

Early diagnosis would also allow people to develop a care plan to reduce the burden on the patient and their family, she said.

She said that a blood test would be the ideal first stage to help identify people at risk before a diagnosis is confirmed with cognitive tests and brain scans.

The research has been published in the journal Molecular Psychiatry.

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