Stressed kids more likely to become obese

The more ongoing stress children are exposed to, the greater the odds they will become obese by adolescence, reports Cornell environmental psychologist Gary Evans in the journal Pediatrics (129:1). 

Nine-year-old children who were chronically exposed to such stressors as poverty, crowded housing and family turmoil gain more weight and were significantly heavier by age 13 than they would have been otherwise, the study found. The reason, Evans and his co-authors suggest, is that ongoing stress makes it tougher for children to control their behavior and emotions -- or self-regulate. That, in turn, can lead to obesity by their teen years. 

"These children are heavier, and they gain weight faster as they grow up. A very good predictor of adults' ability to follow healthy habits is their ability to self-regulate. It seems reasonable that the origins of that are probably in childhood. This [research] is starting to lay that out," said Evans, the Elizabeth Lee Vincent Professor of Human Ecology in the Departments of Design and Environmental Analysis and of Human Development in Cornell's College of Human Ecology. 

Evans conducted the study with former students Thomas Fuller-Rowell, Ph.D. '10, now a Robert Wood Johnson postdoctoral fellow at the University of Wisconsin-Madison, and Stacey Doan, Ph.D. '10, an assistant professor of psychology at Boston University. 

The researchers measured the height and weight of 244 9-year-olds in rural New York state and calculated their various physical and psycho-social stressors -- for example, exposure to violence, living in a substandard house or having no access to such resources as books. They also measured the children's ability to delay gratification by offering them a choice between waiting for a large plate of candy versus having a medium plate immediately. The researchers measured the children's height and weight again four years later. 

While the study doesn't prove that a child's inability to delay gratification causes her to gain weight, there's strong evidence to suggest that it does, Evans said. First, previous studies have shown that chronic stress is linked to weight gain in children and teenagers, and that children eat more sugary, fatty foods when stressed. 

Second, there's a plausible neurocognitive mechanism that may help better understand this behavior, Evans said. "There's some evidence that parts of the brain that are vulnerable and sensitive to stress, particularly early in life, are some of the same parts involved in this self-regulatory behavior." 

The study has implications for education policies such as No Child Left Behind that emphasize testing cognitive abilities but ignore children's ability to control their behavior and emotions, Evans said. 

"A child's ability to self-regulate is not just predictive of things like whether you're going to have trouble with weight -- it predicts grades, graduating from high school. A 4-year-old's ability to self-regulate even predicts SAT scores. This is a very powerful phenomenon," he said. 

The findings also have implications for interventions and policies aimed at reducing individual stressors. "If it's the cumulative impact of stress on these families that is important, that means an intervention that only looks at one stressor -- say, just drug abuse, which is how most interventions are designed -- is doomed to fail," Evans concluded. 

Author: Susan Kelley | Source: Cornell University [January 21, 2012]

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Disabled children do matter

Many disabled children fail to reach their full potential because they continue to be marginalised in schools, health and social care, according to new research funded by the Economic and Social Research Council (ESRC). 

"We found that disabled children often experience discrimination, exclusion and even violence," say Professor Dan Goodley and Dr Katherine Runswick-Cole, who implemented the study at the Manchester Metropolitan University. "The biggest barriers they meet are the attitudes of other people and widespread forms of institutional discrimination." 

"Disabled children are seldom allowed to play and act like other children because of concerns about their 'leaky and unruly' bodies. But our study shows that many children who don't fit the narrow definition of 'normal' have untapped reserves of potential and high aspirations which can be fulfilled when their families receive effective support. There are also many amazing families who should be celebrated for the way they fight for their children.” continues Professor Goodley. 

The aim of the Does Every Child Matter, post Blair? project was to find out what life is like for disabled children and young people in the context of policy changes set in motion by the New Labour Government after 1997. The Aiming High for Disabled Children policy agenda was intended to enable disabled children to be 'healthy', 'stay safe', 'enjoy and achieve', 'make a positive contribution' and 'achieve economic well-being'. 

The findings, which are based on a series of interviews with disabled children and their families, reveal numerous barriers to these goals, for example: 

• Disabled children are often perceived by educational and care professionals as “lacking” and as failing to fit in with the image of ‘normal’; 

• Families who do not match the norm are frequently excluded from friendships, education and work; 

• The support system is complicated and there are gaps in provision, particularly during the transition to adulthood; 

• Physical access and transport barriers to sport and leisure activities result in segregation, while participation in art and creative activities is limited; 

• Widespread discriminatory attitudes threaten to create a culture of bullying; 

• Families of children with life-limiting/threatening impairments often experience isolation and poverty 

The researchers call for a change of attitude towards disability so that diversity is not only valued, but promoted. "There is an 'epidemic' of labelling children as disabled," Professor Goodley and Dr Runswick-Cole warn. "Parents are repeatedly under pressure to talk about what their children can't do in order to access services and support, but sometimes the label can obscure the individual. Families should be asked what support their child requires, not what is the 'matter' with him or her." 

Their report recommends that policy should prioritise enabling disabled children to break down barriers by supporting their participation in education, the arts, leisure and their communities and by meeting their communication requirements. "We need to re-think the culture of individualism and performance which pushes disabled children out" continue the researchers. "Pressures on schools are getting worse. We found a case where parents of non-disabled children petitioned to exclude a disabled child. What does this say about the meaning of education and community?" 

The study found that bullying is often accepted as inevitable when disabled children are perceived as vulnerable. There were several layers of violence, from manhandling in school to psychological bullying, which often goes unnoticed by adults. Some children do however stand up to bullies and refuse to be limited by labels that are imposed upon them. 

One young person insisted on attending Brownies meetings alone, despite health and safety rules that required her mother to accompany her. "Kids seem to enjoy challenging people's expectations about their limitations," the researchers commented. 

Source: Economic and Social Research Council [December 02, 2011]

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Violent video games alter brain function in young men

A functional magnetic resonance imaging (fMRI) analysis of long-term effects of violent video game play on the brain has found changes in brain regions associated with cognitive function and emotional control in young adult men after one week of game play. The results of the study were presented today at the annual meeting of the Radiological Society of North America (RSNA). 

The controversy over whether or not violent video games are potentially harmful to users has raged for many years, making it as far as the Supreme Court in 2010. But there has been little scientific evidence demonstrating that the games have a prolonged negative neurological effect. 

"For the first time, we have found that a sample of randomly assigned young adults showed less activation in certain frontal brain regions following a week of playing violent video games at home," said Yang Wang, M.D., assistant research professor in the Department of Radiology and Imaging Sciences at Indiana University School of Medicine in Indianapolis. "These brain regions are important for controlling emotion and aggressive behavior." 

For the study, 22 healthy adult males, age 18 to 29, with low past exposure to violent video games were randomly assigned to two groups of 11. Members of the first group were instructed to play a shooting video game for 10 hours at home for one week and refrain from playing the following week. The second group did not play a violent video game at all during the two-week period. 

Each of the 22 men underwent fMRI at the beginning of the study, with follow-up exams at one and two weeks. During fMRI, the participants completed an emotional interference task, pressing buttons according to the color of visually presented words. Words indicating violent actions were interspersed among nonviolent action words. In addition, the participants completed a cognitive inhibition counting task. 

The results showed that after one week of violent game play, the video game group members showed less activation in the left inferior frontal lobe during the emotional task and less activation in the anterior cingulate cortex during the counting task, compared to their baseline results and the results of the control group after one week. After the second week without game play, the changes to the executive regions of the brain were diminished. 

"These findings indicate that violent video game play has a long-term effect on brain functioning," Dr. Wang said. 

Source: Radiological Society of North America [November 30, 2011]

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Finger (mal)formation reveals surprise function of desert DNA

Scientists from the EPFL and the University of Geneva have discovered a genetic mechanism that defines the shape of our members in which, surprisingly, genes play only a secondary role. The research published in Cell, online the 23rd of November, shows the mechanism is found in a DNA sequence that was thought, incorrectly, to play no role. 

This long string has seven enhancers which, when combined with one another, modulate the activity of the genes responsible for the formation of the fingers – an important fundamental discovery for the field of genetics. The discovery could notably help better understand anomalies that are transmitted from generation to generation such as welded fingers or extra or abnormally short fingers (Kantaputra syndrome) even if the genes appear perfectly normal. 

Turbos on the genome 

DNA is composed of only about 2% genes. But it has other types of sequences, such as enhancers that increase the activity of certain genes at key moments. "The discovery we have made is that the group of genes involved in finger growth is modulated by seven enhancers, not just one, and they combine through contact," says Thomas Montavon, lead author of the article and researcher at the EPFL. 

When the fingers in the embryo begin to take shape, the string of DNA folds and the enhancers, located on different parts of the string, come into contact. They then bring together various proteins that stimulate the activity of the genes, and the fingers start to grow. If one of these seven enhancers is missing, the fingers will be shorter, or abnormally shaped. When two are missing, the defects are even more pronounced. Without enhancers, the genes work slowly, and generate only the beginnings of fingers. 

How does the DNA fold in exactly the right way so that the enhancers will correctly do their job? The recently discovered process remains largely unexplained. "In other tissues, such as the brain, the string of DNA folds differently," says Denis Duboule, director of the study and researcher at both the EPFL and the University of Geneva. "To our knowledge, it is only in the fingers that it adopts this shape." 

An explanation for evolutionary diversity 

Statistically, the seven enhancers involved in finger growth create seven opportunities for a mutation to occur. The flexibility of this mechanism, with no known equivalent to date, causes not only hereditary malformations, but also the many variations in the hands, legs and other appendages in nature. "Just think of some ungulates, which walk on a single finger, or the ostrich, which has only two, and the human hand, of course" explains Denis Duboule. 

Other genetic processes may also function on the basis of a similar principle. This could explain the diversity of the products of evolution, in areas other than the fingers, according to Denis Duboule. "When a mutation occurs on a gene, for instance in cystic fibrosis, it is often binary. This amounts to an 'all or nothing' situation. With the mechanism we have discovered, it is a 'more or less' situation. It is combined, it is modulated."  

Source: Ecole Polytechnique Federale de Lausanne [November 23, 2011]

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TV viewing poses greater risk than computer use for cardiovascular disease

Physical activity will definitely lower children's chances of developing cardiovascular disease down the road, but physical inactivity will not necessarily increase it. Findings from a recent Queen's University study shows different kinds of sedentary behaviour may have different consequences for young people's health. 

"Even if a child is physically active, this activity is really only making up a short period of their whole day, so it's important to look at other aspects of their day to see what's going on. Part of that is the kind of sedentary behaviours they engage in," says Valerie Carson, a doctoral candidate in the School of Kinesiology and Health Studies at Queen's. 

Previous research has identified high volumes of sedentary behaviour as a risk factor for cardiovascular diseases in adults. But among the children she surveyed, Ms. Carson found no general connection between the volume of sedentary behaviour and the risk of developing diabetes or coronary heart disease. 

Instead, she noticed some types of sedentary activities having a greater impact on children's health than others. Specifically, high levels of TV viewing predicted higher cardio-metabolic risk, whereas high computer use did not. 

One possible explanation is that TV viewing falls near the bottom on the scale of energy expenditure, according to some research. Another is that activities like snacking between meals that usually go hand-in-hand with specific kinds of screen times may be causing the associated health risks. 

"The take home message is that we want children to be more physically active, but then, at the same time, we need to think about what they're doing the rest of the time," explains Mr. Carson. "Our study suggests we should also limit children's television viewing time." 

Source: Queen's University [November 16, 2011]

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Childhood obesity - what are the health risks?

It is widely suspected that the current wave of obesity among children will result in greater rates of cardiovascular disease and diabetes over the next few decades. But a second systematic review of research into childhood obesity and metabolic disease in adult life has shown there is little evidence of a direct link and suggests that treating obesity during childhood will remove any risk of lasting harm. 

This new study, and the second of its kind carried out by nutrition experts at The University of Nottingham, has strengthened their original findings that we could in fact be more at risk of health problems if we are lean as children and become obese as adults. Unexpectedly the work suggests that there could even be a slight protective effect if we are overweight as children and reduce our Body Mass Index (BMI) in adulthood. 

The research, funded by the Organix Foundation, and published online in the International Journal of Obesity, warns that as a result dieticians and nutritionists are missing an important at-risk group. 

This second review has been performed by Louise Lloyd, a graduate student in nutrition, Dr Sarah McMullen, lecturer in Human Nutrition, and Professor Simon Langley-Evans, Chair in Human Nutrition, all based in the Division of Nutritional Sciences (School of Biosciences). The Division carries out research which focuses on the basis of the individual response to diet, development and ageing. 

Their review shows that previous studies suggesting that childhood obesity permanently raises risk of disease failed to take into account adult BMI. As a result, there is insufficient evidence to demonstrate links with long term-risk which are independent of adult BMI. 

The researchers reviewed 11 academic studies which considered the health of thousands of people living in westernised countries. They say that when adult BMI was accounted for, people at the lower end of BMI in childhood who became obese later in life actually had the highest chances of high blood pressure, type 2 diabetes and heart disease. 

Professor Langley-Evans said: “There is substantial evidence that childhood obesity tracks into adulthood and it is clear that adult obesity puts us at higher risk of metabolic disease. We are not therefore suggesting that childhood obesity is without consequences. Targeting childhood and adolescence for prevention and treatment of obesity is wholly appropriate in order to establish a healthy weight moving forward into the adult years.  However, we have found that the nature of the relationship between early BMI and adult disease risk is very complex. People at the lower end of the BMI range in childhood and go on to be obese as adults seem to be at particular risk. Therefore, by focusing on children who are overweight or obese for the promotion of health weight management we may be missing an important at-risk group.” 

Overweight and obesity are associated with a range of chronic diseases such as cardiovascular disease, type 2 diabetes and certain cancers. The World Health Organisation has estimated that around a third of coronary heart disease and ischaemic strike cases are attributable to excess weight. As the prevalence of excess weight and obesity continues to increase there are significant implications for population morbidity and mortality with the increase in childhood obesity of particular concern. 

Dr McMullen said: “We conducted the reviews because we were interested in the impact of obesity during childhood on long term disease risk. We were surprised to see that when we adjusted for adult body mass index the relationships disappeared and, in fact, many of them reversed. Our analysis of the research as a whole goes against many of the conclusions from the individual studies. Most surprising to us was the finding that it is those who are relatively lean in childhood but go on to be obese during adulthood who are at particular risk. 

“We must be very clear about one thing — obesity does have a very negative impact on health in many different ways. We know that people who are obese during childhood are more likely to be obese as adults, and this has a direct impact on their health and wellbeing at that time. It is generally assumed that an earlier onset and longer duration of obesity is associated with a greater cardiovascular risk, which has increased concerns about childhood obesity trends. However, very important questions remain as to the nature of the relationship. For example it isn’t clear whether weight loss interventions in adult life can fully ameliorate the risks associated with childhood obesity or whether an independent effect of childhood obesity remains, irrespective of the degree of adult weight.” 

The two reviews can be found at: 

http://www.nature.com/ijo/journal/vaop/ncurrent/full/ijo2011186a.html 

http://www.nature.com/ijo/journal/v34/n1/full/ijo200961a.html 

Source: The University of Nottingham [November 16, 2011]

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Researchers discover why measles spreads so quickly

Measles virus is perhaps the most contagious virus in the world, affecting 10 million children worldwide each year and accounting for 120,000 deaths. An article published in the Nov. 2, 2011 issue of Nature explains why this virus spreads so rapidly. 

Measles virus particles, TEM [Credit: AMI Images/Science Photo Library]

The discovery by Roberto Cattaneo, Ph.D., at Mayo Clinic in Rochester, MN, in collaboration with Veronika von Messling, DVM, at the Centre INRS–Institut Armand-Frappier and research teams at several other universities opens up promising new avenues in cancer treatment. 

Measles virus spreads from host to host primarily by respiratory secretions. This mode of transmission explains why the virus spreads so quickly and how it resists worldwide vaccination programs to eradicate it. 

The study in Nature shows for the first time how the measles virus "exits" its host via nectin-4, which is found in the trachea. While viruses generally use cellular receptors to trigger and spread infection in the body, measles virus uses one host protein to enter the host and another protein expressed at a strategic site to get out. 

Nectin-4 is a biomarker for certain types of cancer, such as breast, ovarian, and lung cancers. Clinical trials are currently under way using a modified measles virus. Because measles virus actively targets nectin-4, measles-based cancer therapy may be more successful in patients whose cancers express nectin-4. Such therapy could be less toxic than chemotherapy or radiation.  

Source: Institut national de recherche scientifique (INRS) [November 04, 2011]

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Body weight, sleep-disordered breathing and cognition linked in children

Researchers at the University of Chicago have found important new relationships between obesity, sleep-disordered breathing (SDB) and cognitive processing among elementary school children. 

"The intricate interdependencies between BMI, SDB and cognition shown in our study are of particular importance in children, as their brains are still rapidly developing," says study author Karen Spruyt, PhD, assistant professor in the Department of Pediatrics at the Pritzer School of Medicine. "Rising rates of obesity in children may amplify these relationships. Public health campaigns targeting obesity should emphasize not only the health benefits but the potential educational benefits of losing weight." 

The findings were published online ahead of print publication in the American Thoracic Society's American Journal of Respiratory and Critical Care Medicine. 

According to Dr. Spruyt, "SDB amplified the risk of adverse cognitive and weight outcomes, while weight amplified the risk of SDB and adverse cognitive outcomes. Impaired cognitive functioning was associated with an increased risk of adverse weight outcomes and SDB." 

In contrast, she noted, "good cognitive abilities may be protective against increased body weight and SDB." 

The study enrolled 351 schoolchildren (mean age 7.9 years) in Louisville, Kentucky, who underwent neurocognitive testing with the Differential Abilities Scale following an overnight polysomnogram or sleep study. SDB was measured with the obstructive apnea/hypopnea index (AHI), defined as the number of apnea and hypopneas per hour of total sleep time. Anthropometric measurements included body mass index (BMI). Data were analyzed by Structural Equation Modeling, a statistical technique for testing and estimating causal relations between the variables of interest. 

Models using "sleep-disordered breathing" revealed a substantive mediator role of SDB on the relationship between BMI and cognitive performance, with SDB increasing both adverse cognitive and adverse weight outcomes. In analyses using "weight," BMI increased the risks of adverse SDB and cognitive outcomes. Finally, in models using "cognition" as the mediator, the poor ability to perform complex mental processing functions was shown to increase the risk of adverse weight and SDB outcomes. 

"The mediator roles of weight and SDB were comparable, both adversely affecting cognitive functioning." Dr. Spruyt noted. "Poorer integrative mental processing may also increase the risk of adverse health outcomes." 

The study had some limitations. The study included only normally developing children, limiting generalization of the results to more impaired populations. The authors also note that inclusion of children with more severe SDB might have altered the magnitude of the mediation effects. 

"Along with campaigns targeting childhood obesity," Dr. Spruyt adds, "screening for SDB in overweight children and children with learning difficulties may be justified based on our results."

Source: American Thoracic Society [November 04, 2011]

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The 'Freshman 15' is just a myth

Contrary to popular belief, most college students don’t gain anywhere near 15 pounds during their freshman year, according to a new nationwide study. 

Rather than adding “the freshman 15,” as it is commonly called, the average student gains between about 2.5 and 3.5 pounds during the first year of college. 

And college has little to do with the weight gain, the study revealed.  The typical freshman only gains about a half-pound more than a same-age person who didn’t go to college. 

“The ‘freshman 15’ is a media myth,” said Jay Zagorsky, co-author of the study and research scientist at Ohio State University’s Center for Human Resource Research. 

“Most students don’t gain large amounts of weight.  And it is not college that leads to weight gain – it is becoming a young adult.” 

The results suggest that media reporting of the freshman 15 myth may have serious implications. 

“Repeated use of the phrase ‘the freshman 15,’ even if it is being used just as a catchy, alliterative figure of speech, may contribute to the perception of being overweight, especially among young women,” Zagorsky said. 

“Weight gain should not be a primary concern for students going off to college.” 

Zagorsky conducted the study with Patricia Smith of the University of Michigan-Dearborn.  The study will appear in the December 2011 issue of the journal Social Science Quarterly. 

The study uses data from 7,418 young people from around the country who participated in the National Longitudinal Survey of Youth 1997.  The NLSY97 interviewed people between the ages of 13 and 17 in 1997 and then interviewed the same people each year since then.  The NLSY is conducted by Ohio State’s Center for Human Resource Research for the U.S. Bureau of Labor Statistics. 

Among many other questions, respondents were asked their weight and college status each year. 

Other studies have shown that college students tend to underestimate their weight by half a pound to 3 pounds.  But if people are consistent in underestimating their weight from year to year, it would not impact these results, Zagorsky said. 

The study found that women gained an average of 2.4 pounds during their freshman year, while men gained an average of 3.4 pounds. No more than 10 percent of college freshman gained 15 pounds or more -- and a quarter of freshman reported actually losing weight during their first year. 

“It’s worth noting that while there’s this focus on weight gain among freshman, we found that one in four actually lost weight,” Zagorsky said. 

The researchers examined a variety of factors that may be associated with freshman weight gain, including whether they lived in a dormitory, went to school full or part time, pursued a two-year or four-year degree, went to a private or public institution, or was a heavy drinker of alcohol (consuming six or more drinks on at least four days per month.) 

None of these factors made a significant difference on weight gain, except for heavy drinking.  Even then, those who were heavy drinkers gained less than a pound more than students who did not drink at that level. 

Zagorsky said it was particularly significant that dorm living did not add to weight gain, since one hypothesis has been that the dorm environment encourages weight gain during the freshman year. 

“There has been concern that access to all-you-can-eat cafeterias and abundant fast food choices, with no parental oversight, may lead to weight gain, but that doesn’t seem to hold true for most students,” he said. 

The results do show, however, that college students do gain weight steadily over their college years. 

The typical woman gains between seven and nine pounds, while men gain between 12 and 13 pounds. 

“Not only is there not a ‘freshman 15,’ there doesn’t appear to be even a ‘college 15’ for most students,” Zagorsky said. 

Over the course of the entire college career, students who both worked and attended college gained an extra one-fifth of a pound for each month they worked. 

The researchers also examined what happened to college students’ weight after they graduated.  They found that in the first four years after college, the typical respondent gained another 1.5 pounds per year. 

“College students don’t face an elevated risk of obesity because they gain a large amount of weight during their freshman year,” Zagorsky said. 

“Instead, they have moderate but steady weight gain throughout early adulthood.  Anyone who gains 1.5 pounds every year will become obese over time, no matter their initial weight.” 

Although most students don’t need to worry about large weight gains their freshman year, Zagorsky said they still should focus on a healthy lifestyle. 

“Students should begin developing the habit of eating healthy foods and exercising regularly.  Those habits will help them throughout their lives.” 

Author: Jeff Grabmeier | Source: Ohio State University [October 31, 2011]

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Scientists discover link among spectrum of childhood diseases

An international collaboration of scientists, including researchers at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the National Institutes of Health, has identified a genetic mutation that causes a rare childhood disease characterized predominantly by inflammation and fat loss. The research suggests that the disorder, named chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), actually represents a spectrum of diseases that have been described in the literature under a variety of names. More importantly, since no effective treatment for this disease currently exists, the findings may have uncovered a possible target for future treatments. 

The collaboration began when NIAMS rheumatologist Raphaela Goldbach-Mansky, M.D., started seeking the cause of inflammatory skin lesions, fat loss and fevers in two of her young patients. At a scientific meeting, she learned about recent publications by two other research groups — one led by dermatologists Antonio Torrelo, M.D., from the Boy Jesus Hospital, Madrid, and Amy Paller, M.D., from Northwestern University, Chicago, and the other led by Abraham Zlotogorski, M.D., from the Hadassah-Hebrew University Medical Center, Jerusalem — describing similar conditions. She immediately located the publications’ authors and emailed them that same night. 

"It turned out they had found each other and were looking for a genetic cause and additional cases," said Dr. Goldbach-Mansky. "I contacted them with a case report with pictures and they sent me theirs." 

Based on the clinical presentation and, particularly, the unusual skin lesions seen in the children, the researchers suspected that the children must have the same disease. Subsequent analyses — involving biopsies, blood tests and genetic testing — confirmed their suspicions. All but one child had at least one mutation in a gene called PSMB8, which had been recently identified in three adult patients with a disease called joint contractures, muscle atrophy and panniculitis-associated lipodystrophy (JMP). 

PSMB8 is one of more than 20 components involved in making a cellular structure called a proteasome, which recycles proteins from cells that are stressed or dying. 

"When the proteasome doesn't function, there is a buildup of protein waste products in the cells — much like if your trash wasn't picked up each week, it would accumulate in your driveway," said Dr. Goldbach-Mansky. 

The one patient without the mutation had a blood profile that was identical to the ones who did, and showed the same accumulation of waste products in the cells seen in children with the genetic mutation. Blood tests also showed high levels of an inflammatory chemical called interferon gamma-induced protein 10 (IP-10) that is stimulated by interferons. The chemical is produced in response to some infections, and the group suspects that it also may be produced in the cellular stress response. 

The discovery, which is described in Arthritis & Rheumatism, unifies several different diseases into one spectrum of proteasome-associated autoinflammatory syndromes, said Dr. Goldbach-Mansky. She hopes that these findings will enable doctors to identify more children who fit into this spectrum of difficult-to-treat disorders so that they can develop a better understanding of the disorders and their treatment. 

Despite the best treatments currently available — which, in most cases, consist of high doses of steroids — children with these disorders continue to lose fat and suffer metabolic changes that lead to a range of problems, including loss of muscle mass, dilated heart muscles and cardiac arrhythmias. Treatments for other inflammatory diseases have little, if any, effect on the prognoses of these diseases. The group’s findings, however, suggest new therapeutic targets. 

The researchers are currently setting up a clinical protocol that targets the interferon pathway. Physicians and parents who suspect a child may fit the criteria for CANDLE should contact Dr. Goldbach-Mansky's research group (Nicole Plass: at 301-496-2237 or plassn@mail.nih.gov). 

The research was funded by the NIAMS Intramural Research Program and the Authority for Research and Development of the Hebrew University of Jerusalem. Additional support was provided by the National Human Genome Research Institute (NHGRI), the National Cancer Institute (NCI), and other institutions. The researchers plan to collaborate with researchers in other institutes within NIH, including the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the NHGRI. They hope to learn more about the role of the gene mutation in CANDLE that leads to the disease symptoms, and to search for the genetic cause in those children who have only one disease gene, or no disease-causing mutation, so far. 

The mission of the NIAMS, a part of the U.S. Department of Health and Human Services' National Institutes of Health, is to support research into the causes, treatment and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. For more information about the NIAMS, call the information clearinghouse at (301) 495-4484 or (877) 22-NIAMS (free call) or visit the NIAMS website at http://www.niams.nih.gov. 

The NIDDK, a component of the NIH, conducts and supports research on diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition and obesity; and kidney, urologic and hematologic diseases. Spanning the full spectrum of medicine and afflicting people of all ages and ethnic groups, these diseases encompass some of the most common, severe and disabling conditions affecting Americans. For more information about the NIDDK and its programs, see www.niddk.nih.gov. 

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the U.S. Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at its website, www.genome.gov. 

NCI leads the National Cancer Program and the NIH effort to dramatically reduce the burden of cancer and improve the lives of cancer patients and their families, through research into prevention and cancer biology, the development of new interventions, and the training and mentoring of new researchers. For more information about cancer, please visit the NCI website at www.cancer.gov or call NCI's Cancer Information Service at 1-800-4-CANCER (1-800-422-6237). 

Source: National Institute of Health [October 31, 2011]

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