SA team finds heart disease gene

Researchers from South Africa’s Stellenbosch University, working with international colleagues in a study spanning more than 30 years, have identified the rogue or defective gene that causes a type of hereditary heart disease.

Among the researchers are the father and son cardiac research team of Professors Andries and Paul Brink. They worked on the study with colleagues from the German universities of Hamburg and Münster.

The disease, known as progressive familial heart block (PFHB) type I, affects the electrical system of the heart, as opposed to diseases that affect the organ’s blood vessels. Coronary artery disease can cause a heart attack or angina, while heart block is responsible for palpitations, light-headedness and fainting.

PFHB can occur at any time in life and in a few cases has been diagnosed before birth. As the disease may progress to a complete heart block, successful management depends on the fitment of a pacemaker, but if it is not caught in time the patient may die.

The discovery is a breakthrough for South African medical science as it gives hope to sufferers, who can now get advance warning of their condition and seek the necessary treatment.

It will also help academic and medical staff to gain a better understanding of other conditions that affect the heart’s electrical system.

Acording to the Heart Foundation of South Africa, about 195 people die every day from some kind of heart or blood vessel disease.

Electrical impulse

The heart’s electrical impulses are generated by an internal natural pacemaker known as the sinoatrial node. The cells in this node send impulses out along a specialised conduction system, which tells the heart to beat.

Proper functioning of these cells is vital for efficient contraction and pumping of the blood. If the electrical signal is disrupted or slowed as it moves through the tissue, a heart block occurs. Artificial pacemakers fulfil this electrical duty if the built-in system is too severely damaged to function properly.

In PFHB type one the onset is early and the disease progresses rapidly. In type two the disease occurs later in life.

Genealogical link

The rogue gene was found in three branches of an Afrikaans familial group that can trace its ancestry back to one Portuguese individual who landed on the shores of the Cape at the end of the 17th century.

Prof Andries Brink, former dean of Stellenbosch University’s faculty of Health Services, first described the disease in 1977 and published a paper at the time in the South African Medical Journal. The paper, titled Progressive familial heart block – two types, was co-authored by genealogy specialist Marie Torrington.

During the 1970s Brink Sr, then a cardiac specialist at Cape Town’s Tygerberg hospital, treated an infant born with a slow heart rate, whose only hope of survival was an artificial pacemaker. According to Brink Jr, pacemakers in those days were large and unwieldy and to implant one into the body of a child was risky.

Brink Sr became aware of another young child that needed a pacemaker, and it happened that the two children were closely related. He realised the condition may run in the family, and with Torrington’s help he traced its occurrence to other families, located mainly in the Eastern Cape province.

It was Torrington who discovered that the disease was brought into South Africa by the Portuguese immigrant who arrived in South Africa in 1696. He subsequently married a woman of Dutch descent, and genetics has carried PFHB down all the generations since then. No matter where in the country they live, every South African suffering from PFHB today is descended from that couple.

Locating the gene

In 1986 Brink’s son Paul, professor of internal medicine at Stellenbosch University’s medical school, and colleague Valerie Corfield, a molecular geneticist, began a study into the identification and location of the defective gene that causes the condition.

They identified 71 carriers in the three families, of whom 48 had pacemakers implanted. Not everyone born into the PFHB family line will automatically get the disease. Corfield said that about half will be carriers and of that number, about 66% will eventually need a pacemaker.

Eventually Brink and Corfield narrowed down the probable locus to an area encompassing about 80 genes on chromosome 19, which contains just over 1 500 genes. Genes on chromosome 19 have been linked to a number of conditions, including late-onset Alzheimer's disease.

Around the same time Prof Olaf Pongs of Hamburg University’s Centre for Molecular Neurobiology was researching a link between gene TRPM4 on the 19th chromosome, and PFHB type I. The subjects of his study were all Afrikaans South Africans.

Pongs contacted the team, “serendipitously” according to the South African scientists, who were rather daunted by the task of having to examine in detail a possible 80 genes, which is a time-consuming and expensive process.

"Pongs told us that he was interested in a particular gene situated in our search area and that we should take a closer look at this gene,” said Brink.

The two research groups decided to join hands, which led to the discovery that the gene Pongs pointed out was indeed the one that, after undergoing a very small change, causes PFHB.

“Through our research it soon became clear that the product of this gene was playing a role in the way heart cells handle sodium and potassium,” explained Brink, “which underlie the electrical signals of the heart."

Findings of this study, titled Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I, have been published in the September 2009 issue of the Journal for Clinical Investigation, and may also be read online.

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Disney Rebrands FamilyFun

Disney Publishing Worldwide said today it is rebranding FamilyFun magazine into an integrated, multi-platform set of products, and is renaming the print edition Disney FamilyFun.

According to group vice president and general manager Aparna Pande, it was important to more clearly connect the FamilyFun brand with the Disney name. “There is real value in uniting ‘Disney’ and ‘FamilyFun’ so that readers and advertisers immediately identify and benefit from our rich legacy and positive association with families.”

Disney also said it will change the name of its U.S. consumer magazine publishing division to the Disney FamilyFun Group.

As part of the rebranding, Disney expects the FamilyFun Group to roll out a number of branded initiatives this year, including a custom publishing division, a line of family cookbooks and a series of special interest publications, the first being a Halloween-themed book-a-zine.

No “material changes” are immediately planned for FamilyFun’s Web site, Pande told FOLIO:. Pande joined Disney last summer after serving as general manager of Meredith’s Parenthood Group.

In January, Disney said it would shutter three-year-old Wondertime magazine with its March issue. In February, Disney upped FamilyFun’s rate base from 2 million to 2.1 million.

In addition to FamilyFun, Disney publishes 350,000-circ Spanish speaking quarterly Disney en Familia, which launched last fall.

Rodale Seeks to Block Release of ‘Trade Secrets’ in Florida

Rodale recently filed a petition with a Florida circuit court challenging the state attorney general’s decision to release information that was gathered about the Men’s Health publisher as part of an ongoing investigation into its sales and marketing practices.

The petition, filed last month, seeks to prohibit the attorney general’s office from “releasing, in response to a public records request, Rodale’s protected trade secret documents and proprietary confidential business information” that the publisher was subpoenaed to produce.

According to the office of Florida Attorney General Bill McCollum, it is investigating “several negative option marketing methods allegedly employed by Rodale, including automatic shipments and automatic subscription renewals, and whether the marketing materials for these methods adequately disclose terms and conditions.” The office said it also is looking into whether Rodale “sends consumers merchandise that has not been ordered.”

The investigation has been ongoing since February 2008.

"We are cooperating with the Florida attorney general's office on their request for information and have provided relevant materials," Paul McGinley, Rodale’s senior vice president and general counsel, said in a statement to FOLIO:. "We have filed a petition with the court to prevent disclosure of the information we submitted to the attorney general to a third party as we believe the bulk of this information is proprietary and confidential. Any information that includes customer names is highly sensitive."

McGinley added: "Our practices are compliant with the law. We have had marketing materials reviewed by outside counsel consistently for several years.”

It was not immediately clear when a ruling on Rodale’s petition would be made.

Bret Michaels injured by set piece at the Tonys

Rock singer Bret Michaels had a run-in with some stage scenery at the Tony Awards.

Michaels, star of the reality show "Rock of Love," took to the stage with his hair-metal band Poison during the telecast's opening production number, featuring performances from the season's Broadway musicals.

They performed "Nothin' But a Good Time" with the cast of "Rock of Ages," and as Michaels exited the stage, a descending set piece smacked him on the head and knocked him to the ground.

Tonys spokeswoman Christina Stejskal says the rocker "missed his mark." Though it looked it, he did not break his nose. Stejskal did not immediately know the extent of his injury.

"Rock of Ages" celebrates 1980s hair music and features songs by Journey and other bands. It stars Constantine Maroulis as an aspiring rock star.

National Geographic Restructures Sales Operations

Four months after forming a management team tasked with developing integrated advertising sponsorship programs company-wide, the National Geographic Society has restructured its sales operations across its four magazines, consolidating them under one brand umbrella.

National Geographic associate publisher Bob Amberg and National Geographic Traveler associate publisher Kimberly Connaghan have been named brand directors, the company said. Amberg will oversee sales for the National Geographic and Kids brands while Connaghan will head sales for the Adventure and Traveler brands. Claudia Malley, who in January took on the added responsibility of developing integrated programs for companies outside the travel category, will keep her title as publisher of the U.S. edition of National Geographic.

As part of the restructuring, 10 sales and marketing division positions were eliminated in an effort to “evolve our business to adapt to changing marketplace,” magazines vice president and group publisher Stephen Giannetti told FOLIO:. Remaining sales representatives will be referred to as “brand managers.”

“This restructuring organizes our sales approach by client, not by our products,” Malley said. “Each brand manager will be able to go out with a brand-first approach and, essentially, spend more time working with their client to determine how to help them achieve their goals.”

The company will maintain its dedicated online sales staff, Giannetti said.

Serving Clients ‘Under the Yellow Border’

The National Geographic Society believes the formation of the Global Media Integrated Sales and Sponsorship group has enabled the non-profit to better “harness its assets” and serve its clients by leveraging its overall brand. “How do we go to market to an advertiser whose business is evolving,” said Giannetti. “By going with the National Geographic brand first, we’re offering our clients the best solutions, all under the yellow border. Now, we’re empowering our salespeople to do the same thing.”

Since January, the company said it has finalized integrated deals with clients including Shell, Lipton, Sun Chips and the country of India.

“When economic market changes, you have to have your arms open to accept those dollars,” Giannetti said. “This restructuring will enable us to do that.”

How to Ollie When Skateboarding

Knowing how to Ollie is a necessity for any reputable skateboarder. The Ollie is the starting point for so many skateboard tricks that learning it early is a good idea. It’s not a complicated skateboard trick, as long as you practice. Wear skateboard shoes, if possible. They’re designed to provide you with the traction needed to perform tricks.

Start out skateboarding at a reasonable speed. If you are going too slowly when you attempt an Ollie, you won’t get off the ground (and that’s kind of the whole point). If you’re moving too fast, you could lose control and end up hurt. Once you’re moving at a moderate pace, put your front foot about an inch behind the front bolts on your deck. If you’re a regular rider this will be your left foot. For goofy footers, this is your left foot. Your back foot should be on the tail of your skateboard.

Now you’ll bend your knees. The more you bend, the higher you’ll go. Slam your back foot down hard on the tail. Your front foot should be used to pull the skateboard up. This will give you the sensation of jumping. Pull your knees to your chest and at the same time use your rear foot to pull your skateboard up with your body. When you land, make sure you’re bending your knees to absorb impact – otherwise you could really hurt your knees.
As with anything else skateboard related, the key to being able to successfully pull off an Ollie is committing yourself to it. Practice as much as you need to until you can do an Ollie without a problem. Don’t give up if it seems too daunting and certainly don’t give up if you take a spill (it’s unavoidably going to happen). Oh, and don’t forget to wear a helmet.

Home Workout Plans for Busy Moms

If you’re a busy mom with kids at home, you probably find it challenging to get to the fitness club. Fortunately there are solutions for busy mothers; try a few of these home workout plans and see if one of them works for you.

Invest in a running stroller or bike with infant carrier
Walk or bike whenever possible, and place your children in the stroller or child carrier. The extra weight will make the workout all the more efficient.

Use baby as a weight
You may want to commit to a series of calisthenics as part of your home workout plan. Because babies and toddlers want to be held so much, you can incorporate your child right into the workout. Walk up and down the stairs with your child on your back in a baby pack. Hold baby in front of you as you do squats and lunges. Sit baby in front of you as you lie on your side and do leg lifts. Entertain a fussy baby by doing jumping jacks or running in place while talking to your little one. Ask your older children to follow you in a march around the house, with baby on your back or in your arms.

Invest in a DVD and baby swing
If you put your baby into the baby swing and position it in the same room where you’re exercising, you can probably get some of your exercise accomplished while entertaining your child. If you have older children, encourage them to join in with you. Barricade off anything unsafe and provide other activities for the kids to do when they get bored. Look for a challenging exercise DVD that will give you a good workout in a short period of time.

Turn the playground into your workout gym
When you take your children to the playground, get a little exercise yourself. Play tag and run as fast as you can. When you push your baby on the swing, sink down into a true squat and work those glutes and hamstrings. Use the steps on the playground equipment to step up and down much like in step aerobics class. Do a few push-ups while the kids play with other children. Lift your child above your head and use him or her as a weight as you help your child reach equipment. With a little ingenuity, you can turn a time at the playground into a time at the gym for you.