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Heart disease is a leading cause of death in the United States, but you can reduce your risk by eating a heart-healthy diet.

The National Women’s Health Information Center offers these suggestions:
Eat plenty of fruits, vegetables and whole-grain foods.
Opt for low-fat or no-fat dairy products.
Choose lean, healthy proteins, such as chicken or turkey without the skin, fish, nuts and beans.
Limit your intake of saturated and trans fats, found in many forms of butter, fatty meats, fast food, desserts and creamy condiments such as mayonnaise.
Reduce cholesterol in your diet, found in organ meats, pork and sausage, and whole-fat dairy products.
Avoid foods that are high in salt (sodium) and sugar.

Researchers at the National Institutes of Health have identified a genetic mutation that accounts for a perplexing condition found in people with an inherited immunodeficiency. The disorder, called combined immunodeficiency, is characterized by a constellation of severe health problems, including persistent bacterial and viral skin infections, severe eczema, acute allergies and asthma, and cancer.

The team that made the discovery was led by Helen Su, M.D., Ph.D., at the National Institute of Allergy and Infectious Diseases (NIAID), and included collaborators from NIAID and the National Cancer Institute (NCI). The research is reported in this week’s New England Journal of Medicine.

“NIH clinicians have cared for people with unusual and difficult-to-treat immune disorders for decades,” says NIAID Director Anthony S. Fauci, M.D. “This study exemplifies their commitment to improving the lives of people with these diseases by trying to uncover the causes of these disorders and thereby better understanding how to treat them.”

Combined immunodeficiency is a type of primary immune deficiency disease (PIDD) in which several parts of the immune system are affected. This inherited disorder is characterized by increased susceptibility to bacterial, viral and fungal infections of various organs of the body. In some cases, susceptibility to cancers also may be seen.

There are 150 known PIDDs. Approximately 500,000 people in the United States have been diagnosed with a PIDD, while many more remain undiagnosed.

The NIAID and NCI investigators recognized that certain patients with an undefined form of combined immunodeficiency shared enough clinical features to make it likely that the cause might be a common genetic mutation. Originally, these individuals were thought to have a variant form of hyper-immunoglobulinema E syndrome (HIES), a disorder characterized by increased levels of a class of antibodies known as immunoglobulin E, superficial and systemic bacterial and fungal infections, and atopic dermatitis, also known as eczema.

This newly described group, however, had far more severe eczema than is typical in people with variant HIES. They also had extensive and difficult-to-manage viral infections of the skin, such as warts, molluscum contagiosum — a type of poxvirus that only infects the skin — and herpes simplex. Some in this group also developed skin cancers, as well as lymphoma of the skin.

“Even though these individuals were diagnosed with a more uncommon form of HIES, they were still considered to have a mystery disease, because they had severe allergies and had developed cancers,” says Dr. Su.

Using a technique called comparative genomic hybridization, a process by which large amounts of DNA are fixed to a computer chip and analyzed for changes in the genes, scientists examined the genes in the tissue samples from five different groups: the 11 individuals with the unknown immunodeficiencies, people with the variant form of HIES, people with classic HIES, those with other immunological diseases, and healthy individuals.

The researchers discovered that people with the unique form of HIES had mutations in a gene called DOCK8 that led to deletions in parts of the gene. The normal function of DOCK8 is currently unknown.

When compared with healthy individuals, the people with DOCK 8 mutations had fewer CD8 positive T cells, immune cells needed to fight viral infections; fewer antibody-producing B cells; and increased numbers of eosinophils — immune cells associated with allergy.

According to Dr. Su, these findings indicate that DOCK8 is essential for defense against viral infections and for preventing the development of cancer and allergies.

Although further study is required to determine if DOCK8 mutations occur in other people with similar disease symptoms, DOCK8 immunodeficiency syndrome may be a new PIDD. These findings mean that individuals with this rare disease will be able to receive a more accurate diagnosis. Identifying a genetic cause for the disease provided comfort to some of those diagnosed who had battled an unknown immune disease for years, according to Dr. Su.

“The study of inherited disorders and the genetic alterations that are responsible for their complex array of disease symptoms has often resulted in the discovery of causative genes that play a role in cancer initiation,” said NCI Director John E. Niederhuber, M.D. “The disease mutations found in this study in the DOCK8 gene exemplify that kind of important finding. As with any discovery of a genetic defect, the challenge going forward is to develop a complete knowledge of the cascading pathways of biological function for which DOCK8 is responsible.”

Parents want to know how their children measure up on the growth charts widely used in pediatrician’s offices, but many parents don’t understand how to read or interpret the information, a new survey shows.

About 85 percent of parents could look at a growth chart with one point plotted and correctly identify that the point corresponded to the child’s age, according to an online survey of a nationally representative group of 1,000 moms and dads. About two-thirds of parents were able to identify both a child’s weight and percentile on a chart with one plotted point.

But only 56 percent could correctly identify the meaning of “percentile” from a list of choices. In the context of a growth chart, a percentile measures how a child stacks up to his or her peers. A child who is in the 80th percentile for height, for example, is taller than 80 percent of other children his or her age, while a child in the 25th percentile, is shorter than 75 percent of his or her peers.

Only one-third of parents could identify a child’s age, weight and percentile on a chart, as well as the correct definition of percentile, according to the study in the October issue of Pediatrics.

Growth charts were developed in the 1960s to help physicians monitor a child’s development, said study author Dr. Elana Pearl Ben-Joseph, consulting medical editor at Nemours Center for Children’s Health Media. The latest versions, from the U.S. Centers for Disease Control and Prevention, were updated in 2001.

While the charts were meant for use by health-care providers, in practice, physicians often use the charts as visual aids for parents. About 31 percent of parents said they marked their child’s growth on a chart at home.

“Growth charts can be helpful if used properly and if the parents understand them and they are explained properly,” Ben-Joseph said. “But they can be detrimental if not explained well or if parents aren’t understanding them.”

And many don’t. In the survey, about half of parents said a child in the 10th percentile for height and weight was underweight. To doctors, the child’s height and weight is proportional and probably no cause for concern, Ben-Joseph noted.

Many parents expressed concern about a child in the 25th percentile for height and weight year after year. About 16 percent said they would encourage the child to eat more and 18 percent said they didn’t know what the information meant.

A child following a 25th percentile growth curve is smaller and lighter than average, but again, nothing to worry about, Ben-Joseph explained.

When reading growth charts, doctors tend to look for abrupt changes, such as a child whose height or weight trend suddenly drops off, which could be a sign of a problem. They also look for proportionality in height and weight.

A child with a height in the 10th percentile and weight in the 90th percentile is overweight, though about half of parents in a survey didn’t realize this.

The confusion over growth charts brings up the larger issue of “numeracy” — the numerical counterpart to literacy — or the ability of patients to understand risk, statistics, graphs and charts used with increasing frequency in health care, said Dr. Goutham Rao, clinical director of the Weight Management and Wellness Center at Children’s Hospital of Pittsburgh.

“When a patient comes to a doctor’s office or a health-care facility, there are specific numeracy skills they need to understand their condition and what transpires in the health-care environment,” Rao said. “It’s not just patients that can have trouble with this: physicians can also have difficulty putting numbers into terms patients can understand.”

Even so, growth charts remain a useful tool for broaching the delicate issue of a child’s weight with parents, Rao pointed out. About 12.4 percent of children 2 to 5 years old are overweight, 17 percent of children aged 6 to 11 are overweight and 17.6 percent of teens aged 12 to 19 are overweight, according to the U.S. Centers for Disease Control and Prevention.

“Many times parents don’t recognize that their child is overweight,” said Rao, whose clinic uses electronic charts so parents can take home printouts of the result. “We can show the parent where the child is on the growth chart, provide a very detailed explanation of the numbers and make sure the parents are able to understand it. Then we can ask the parents if it’s something they would like to work on.”

Further research should be done into developing growth charts that are easier for parents to understand, Ben-Joseph added.

“There is a desire by the parents to see the growth chart and have doctors talk to them about it,” Ben-Joseph said. “It’s important for doctors to be aware that not all parents will understand these complicated mathematical concepts and to take that into account when they are doing the explaining.”