Breakfast -- Don't Leave Home Without It

By Suzanne Proulx, M.S., R.D., L.D.N.
Brigham and Women's Hospital

Breakfast Benefits
Quality Counts
Beating The Breakfast Blues
Tips And Ideas
No Time For Breakfast?
Not Interested In Traditional Breakfast Foods?
No Appetite In The Morning?
Eating a nutritious breakfast is a great way to jump-start the day, yet a tasty breakfast might not be finding its way onto your kitchen table. Rushed morning routines, trying to lose weight, and lack of appetite early in the morning are all reasons people skip breakfast. Nevertheless, mounting evidence supports the idea that breakfast may indeed be the most important meal of the day.

Breakfast Benefits

Studies examining eating habits suggest that the regular consumption of breakfast can:

Reduce risk of obesity and high cholesterol
Decrease insulin resistance (a condition that increases risk of type 2 diabetes and heart disease)
Improve performance on memory-related tasks
Minimize impulsive snacking and overeating at other meals
Increase intake of essential nutrients that are rarely replenished by other meals of the day
Enhance school performance in children and young adults
Although it would seem to make sense that skipping breakfast would save calories, data suggest otherwise. In a study of nearly 3,000 adults who lost and kept off at least 30 pounds for longer than one year, close to 90 percent reported eating breakfast on most days of the week. Interestingly, the breakfast eaters and breakfast skippers consumed almost the same total daily calories; the breakfast skippers made up the missed breakfast calories throughout the day. In addition, researchers at the University of Massachusetts Medical School found that breakfast skippers are 4.5 times more likely to be obese than are breakfast eaters.


Quality Counts

Before reaching for that doughnut or pastry, keep in mind that what you choose for breakfast is just as important as eating breakfast. Think of breakfast as the perfect opportunity to start accumulating the minimum five servings of fruits and vegetables and three servings of whole grains recommended for optimal health. Furthermore, the National Academy of Sciences recommends that adults consume 21 to 38 grams of fiber per day. This presents quite a challenge for those choosing low-fiber breakfast options or for those skipping breakfast altogether. Whole grains, fruits, vegetables, beans, nuts and seeds are the best sources of dietary fiber. High-fiber foods have the added benefit of warding off mid-morning snack attacks by creating a feeling of fullness. Likewise, adding some protein such as seafood, low-fat dairy products, skinless poultry, egg or egg substitute can also aid in suppressing hunger.


Beating The Breakfast Blues

Breakfast can be one of the most monotonous meals of the day, but with a little creativity, the first meal of the day can be one of the best. Variety can beat breakfast boredom, so don’t be afraid to include some unorthodox breakfast foods for a change of pace. Additionally, if you have abandoned breakfast due to a busy lifestyle, some of these breakfast ideas can be packed up and taken along for a delicious grab-and-go breakfast treat.


Tips And Ideas

No Time For Breakfast?

Wrap a whole-grain tortilla around peanut butter and a banana and serve with low-fat milk or soy milk.


Stuff a whole-wheat pita with low-fat cream cheese or low-fat cottage cheese and canned sliced peaches.


Plan ahead and place whole-grain cereal (at least 3 to 4 grams of fiber per serving) with dried fruit and nuts in a sealed bag. Grab in the morning along with a carton of low-fat yogurt or low-fat milk.


Try some whole-grain crackers, string cheese and grapes.


Mix instant plain oatmeal with dried fruit, nuts and a dash of cinnamon.


Spread peanut butter and jam on whole-grain bread and have with a piece of fruit and low-fat milk or soy milk.


Munch on a handful of unsalted mixed nuts served with an individual portion of low-sodium vegetable juice.


Top a whole-wheat English muffin with soy sausage patty and a slice of low-fat cheese.


Take along a piece of fruit, low-fat milk or soy milk and a homemade muffin made on the weekend and stored in the freezer. (Substitute at least half the flour in recipes with whole-grain flour and supplement the batter with vegetables, nuts and/or fruit.)
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Not Interested In Traditional Breakfast Foods?

Choose whole-grain varieties (check ingredient list for the words "whole" or "whole grain" in the first ingredient) of breads, tortillas, crackers, bagels or pita breads and top or stuff with any of the following:
Salmon spread made with low-fat cream cheese, canned salmon and your favorite herbs
Hummus with grated carrots and raisins
Leftover skinless chicken or turkey with light mayonnaise and cranberry chutney
Bean spread with lettuce, tomato and cucumber slices
Avocado, baby greens, roasted red pepper and a few chopped sun dried tomatoes
Low-fat feta cheese with walnuts and dates
Scrambled egg substitute or eggs with salsa
Freezer pops made from a mixture of low-fat yogurt, low-fat milk or soy milk mixed with 100-percent juice and fruit slices


Baked tortilla chips with salsa and cut-up vegetables


Grilled cheese sandwich made with whole-grain bread, low-fat cheese or soy cheese served with fruit. (For variety, stuff with grilled or sautéed vegetables made on the weekend and frozen as individual servings.)


Celery and sliced apple with peanut butter


Vegetables with low-fat dip and a hard-boiled egg


Soy hot dog or veggie burger in a whole-grain bun with lettuce, tomato, your favorite condiments and a side of baby carrots


Pizza made with whole-grain pita bread, spaghetti sauce and low-fat cheese served with fruit


A bowl of vegetable soup and whole-grain crackers. (Try low-fat pureed soups in a travel mug if eating on the run.)


No Appetite In The Morning?

A lack of appetite in the morning may be the result of a large meal or snack consumed the night before. Perk up your morning appetite by eating lighter and earlier in the evenings. If a large breakfast is still not appealing, perhaps a breakfast smoothie may be the answer. Try blending a mixture of either low-fat milk, low-fat yogurt or soy milk with fruit, 100 percent fruit juice and your favorite spices or flavor extract. Oat bran, wheat germ or ground flax seed can be added for extra fiber.


So start your day the healthy way by fueling up with a nutritious breakfast!

Suzanne Proulx M.S., R.D., L.D.N., is a senior nutritionist at Brigham and Women's Hospital and Dana-Farber Cancer Institute. She is also a group nutritionist for the Women's Health Initiative, which is a landmark research study designed to investigate some of the major causes of disease and death in postmenopausal women. She has a Bachelor of Science degree in biology from Boston College and a Master of Science degree in nutrition from Boston University.

Hearing Loss In Adults

What Is It?

Hearing loss is a decrease in the ability to perceive sounds. In adults, hearing loss can be partial or total, sudden or gradual, temporary or permanent. It can affect one ear or both. Currently in the United States, 28 million people over age 3 have some form of hearing loss. The condition affects approximately 3% of all adult men and women. In general, the risk of hearing loss increases with age. Between 24% and 40% of adults over age 65 have difficulty hearing. Thirty percent of people over age 85 are deaf in at least one ear.

To understand hearing loss and treatment, it helps to know how hearing works. Sound enters the ear and strikes the eardrum (tympanic membrane). This causes the eardrum to vibrate. The eardrum's vibrations are amplified through the middle ear by three tiny bones. Inside the ear, the vibrations are transformed into nerve impulses. These nerve impulses travel to the brain, where they are interpreted as sounds.

Because the outer ear and middle ear transmit (or conduct) sound, any injury to this part of the hearing pathway is called conductive hearing loss. Sensorineural hearing loss is injury to the inner ear, eighth cranial nerve and brain, which all deal with the production, transmission and interpretation of nerve impulses.

In adults, some of the most important causes of hearing loss are:

Middle ear disease — A bacterial infection of the middle ear can injure the eardrum, disrupt the middle-ear bones, or cause fluid buildup.


Noise — Without adequate ear protection (earmuffs or earplugs), loud sounds can injure delicate cells within the ear. This is a form of sensorineural hearing loss, and it is the most common cause of hearing loss among American adults. Noise-induced hearing loss can happen because of a single brief burst of an extremely loud sound, such as a gunshot or firecracker. It is more often the result of long-term exposure to loud sounds of slightly lower intensity, such as factory noise or rock music. Among U.S. workers, noise-induced hearing loss is the most common of all occupational injuries. It is a significant health problem among carpenters, miners, plumbers, factory workers, farmers, construction workers and workers exposed to aircraft, sirens or explosives. People can also develop noise-induced hearing loss from recreational activities, such as listening to very loud music, operating a personal watercraft (such as Jet Ski and WaveRunner) or snowmobile, shooting firecrackers or guns, or operating a loud lawnmower or leaf blower.


Otosclerosis — This conductive hearing loss involves the abnormal overgrowth of one or more bones in the middle ear. It prevents the small bones from moving normally. Otosclerosis often runs in families. It strikes 1% of American adults, and is especially common among white, middle-aged women.


Acoustic neuroma — This noncancerous (benign) tumor grows on part of the eighth cranial nerve, which carries signals to the brain. Because this tumor develops near parts of the body that help control balance as well as hearing, it often causes dizziness and equilibrium problems in addition to gradual hearing loss. Acoustic neuromas most often occur in adults between the ages of 30 and 60.


Ménière's disease — This typically causes dizziness, hearing loss, ringing in the ears (tinnitus) and a sensation of fullness or stuffiness in one or both ears. Although research suggests that Ménière's disease is related to a change in the volume of a fluid inside the ear, the reason for this volume change remains unknown. Ménière's disease currently affects three to five million Americans.


Trauma — Many types of accidents can cause hearing loss, including stab wounds, gunshots or being hit on the ear or skull. Hearing loss can come from a blast injury to the eardrum from the force of an explosion or simply from a cotton swab (Q-tip) that ruptures the eardrum during an attempt to clean the ear canal.


Sudden sensorineural hearing loss — This is a medical emergency. A person loses hearing over a period of three days or less. In 85% to 90% of cases, the cause is unknown, although many doctors believe that the underlying problem may be a viral infection. Doctors diagnose about 4,000 Americans with this type of heearing loss each year. In 90% of the cases, only one ear is affected.


Drugs — Many prescription and nonprescription medications can damage the ear and cause hearing loss. These include:


Antibiotics, such as erythromycin (several brand names), vancomycin (Vancocin), tetracycline (several brand names) and aminoglycosides, such as gentamicin (several brand names), streptomycin (Zanosar), tobramycin (Nebcin) and amikacin (Amikin)
Anticancer chemotherapeutic drugs, such as cisplatin (Platinol), 5-fluorouracil (Ancobon) and bleomycin (Blenoxane)
Aspirin
Antimalaria drugs


Age — Age-related hearing loss, also known as presbycusis, is not a single disease, but a category for the cumulative effects of aging on the ears. In most cases, hearing loss begins after age 60, and is usually more noticeable in men than women. Both ears are affected. It is typically harder to hear high-pitched tones (women's voices, violins) than low-pitched ones (men's voices, bass guitar). Because this usually occurs gradually over a period of years, the person may not realize that he or she has difficulty hearing. A family member may bring the problem to the person's attention.


Other causes — There are more than 100 different causes of hearing loss in adults. The most common reversible cause is severe buildup of earwax in the ear canal and acute infections of the external ear or middle ear.
Symptoms

If you have sudden, severe hearing loss, you will notice right away that your ability to hear has decreased dramatically or disappeared totally in the affected ear. For example, you may snap your fingers next to the affected ear and not hear it, or you may put the telephone receiver against your ear and hear nothing.

If your hearing loss is gradual, your symptoms may be more subtle. You may have difficulty understanding conversations, either in person or over the telephone. Family members may complain that you play the radio or TV too loudly. You may ask them to repeat what they say or frequently misunderstand what they are saying.

Some diseases and conditions that cause hearing loss may produce additional symptoms, including:

Ringing in the ears (tinnitus)
Discharge or bleeding from the ear
Deep earache, or pain in the ear canal
Pressure or a "stuffy" feeling inside the ears
Dizziness or problems with balance or equilibrium
Nausea
Diagnosis

After you describe your symptoms, the doctor will ask if anyone in your family has had (or has) hearing loss. Your doctor will want to know if you have been exposed to loud noises, trauma of the ear or head, or ear infections. To rule out the possibility that medications may be the cause of your hearing loss, your doctor will review the prescription and over-the-counter drugs you take.

Your doctor will examine you, and look closely at your ears. This ear exam may include:

An examination of your ear canal and eardrum using a lighted instrument for looking inside the ears (otoscope)
The Rinne test, in which a vibrating tuning fork is placed on the bone behind your ear to test for conductive hearing loss
The Weber test, in which a vibrating tuning fork is placed in the middle of your forehead to help diagnose one-sided hearing loss
Audioscopy testing, in which the doctor uses a hand-held device to generate tones of various intensities to find out if you can hear them
If the results of your ear exam suggest that you have hearing loss, your doctor will refer you to an audiologist. The audiologist will test your hearing sensitivity (with audiometry) and check for middle-ear problems by measuring your eardrum's ability to reflect sounds (impedance testing). Further testing and treatment will follow.

Expected Duration

The duration of hearing loss depends on its cause. In general, sensorineural hearing loss tends to be permanent.

Prevention

You can help prevent hearing loss by taking the following steps:

Wear protective earplugs or earmuffs if you are often exposed to loud noise at work or during recreational activities. To help protect workers, the U.S. Department of Labor's Occupational Safety and Health Administration (OSHA) has developed regulations governing noise exposure on the job.
Never put cotton swabs or other foreign objects in your ears.
Wear a seatbelt while driving, and wear a protective helmet while riding a bicycle.
Be informed about the possible side effects of your prescription and nonprescription medications.
Treatment

Both age-related and noise-related hearing loss tend to be permanent. However, depending on the severity of your hearing loss, your doctor may recommend either a hearing aid or an implant to improve your ability to communicate with others. A hearing aid amplifies sounds electronically and is effective for many people with age-related hearing loss. Newer digital technology has produced smaller and more powerful devices. A cochlear implant is a device that translates sounds into electrical signals that can be carried by the eighth cranial nerve to the brain.

Certain other forms of hearing loss may be treated medically or surgically:

Otosclerosis — For mild cases, a hearing aid is usually the first option. In severe cases, one of the small bones is surgically replaced with a tiny piston-like prosthesis.


Acoustic neuroma — Treatment includes surgery or highly focused radiation therapy.


Ménière's disease — There is no cure. Some people with this disease improve with a personalized diet plan (such as limiting intake of salt, caffeine or alcohol), quitting smoking, or medications to reduce fluid retention in the ear. In some cases, surgery may be considered.


Traumatic hearing loss — A damaged eardrum can sometimes be repaired surgically by using tough, fibrous connective tissue (muscle fascia).


Drug-induced hearing loss — Stopping the problem medication may reverse hearing loss or prevent it from getting worse.


Sudden sensorineural hearing loss — In most cases, when the cause is unknown, this condition is treated with steroids.


Other — A dense plug of earwax can be dissolved or gently removed from your ear canal by your doctor; also, antibiotics can treat hearing loss caused by ear infections.
When To Call a Professional

Call your doctor immediately if you have sudden hearing loss. This is a medical emergency.

Also, make an appointment to see your doctor if:

You are an older adult, and hearing loss interferes with your quality of life.
You work in a high-noise environment, and you have trouble hearing.
You have hearing loss together with an earache, a discharge from your ears, tinnitus, dizziness or balance problems.
Prognosis

The prognosis is highly variable. However, even if your hearing loss cannot be treated with medications or surgery, your quality of life may improve significantly with a hearing aid. In some people who do not improve with a hearing aid, a cochlear implant may be an option.

Additional Info

National Institute on Deafness and Other Communication Disorders
National Institutes of Health
31 Center Drive, MSC 2320
Bethesda, MD 20892-2320
Phone: 301-496-7243
Toll-Free: 1-800-241-1044
Fax: 301-402-0018
TTY: 1-800-241-1055
Email: nidcdinfo@nidcd.nih.gov
http://www.nidcd.nih.gov/

American Academy of Otolaryngology — Head and Neck Surgery
One Prince St.
Alexandria, VA 22314-3357
Phone: 703-836-4444
Email: info@entnet.org
http://www.entnet.org/

American Speech-Language-Hearing Association (ASHA)
10801 Rockville Pike
Rockville, MD 20852
Toll-Free: 1-800-638-8225
TTY: 1-800-638-8225
Fax: 301-571-0457
TTY: 301-897-0157
Email: actioncenter@asha.org
http://www.asha.org/

National Institute for Occupational Safety and Health
4676 Columbia Parkway
Mail Stop C-18
Cincinnati, OH 45226
Toll-Free: 1-800-356-4674
Fax: 513-533-8573
http://www.cdc.gov/niosh/

American Tinnitus Association
P.O. Box 5
Portland, OR 97207-0005
Phone: 503-248-9985
Toll-Free: 1-800-634-8978
Fax: 503-248-0024
Email: tinnitus@ata.org
http://www.ata.org/

Coffee -- Grounds for Concern?

By Robert Shmerling,M.D.
Harvard Medical School

Do you find yourself looking forward to that first cup of coffee in the morning? How about the next cup? If it's part of your routine to drink coffee on a regular basis, you're not alone.

You also have company when it comes to concerns about the health effects of coffee — hundreds of studies have addressed coffee's effect on the body and whether or not caffeine causes harm. Perhaps you've heard it's good to drink coffee when you have a headache, or bad to drink it if you have stomach problems. So what is myth, and what is fact?

Coffee's Punch

The effects of coffee on the body fall into several categories:

Stimulant effects. Because one of its major ingredients is caffeine, coffee is a well-established stimulant, meaning that it stimulates the nervous system, including such diverse networks as the nerves controlling intestinal activity, blood pressure and airway size. As a result, any caffeine-containing food or beverage (including tea, cola and chocolate milk) may impair sleep, but avoiding coffee late in the day is usually an easy way to avoid this problem. Jitters and anxiety may also be related to caffeine's stimulant effects.


Heartburn. Even decaffeinated coffee can stimulate secretion of stomach acid, leading to heartburn.


Diuretic features. Caffeine is also a diuretic — it encourages the kidneys to produce urine so effectively that it may contribute to mild dehydration. In addition, the water contained in coffee also leads to frequent urination to rid the body of excess fluid.


Miscellaneous. Features of coffee may also have other effects on the body. For example, yellowed teeth are common among regular users of coffee. Injuries related to burns from hot coffee are not rare. And there is even a suggestion by some mental health professionals that occasional caffeine users, including coffee drinkers, should be considered dependent, addicted or struggling with substance abuse.
As for the overall health risks of coffee or caffeine use, concerns have been raised by studies over the past 50 years, including an association with stomach problems, pancreatic and bladder cancer, fibrocystic breast disease and gallbladder disease, among other conditions. When rigorously analyzed, these studies fall far short of implicating modest coffee consumption as a significant health risk, even among pregnant women and cardiac patients. A review from April 2007 examined the evidence that coffee consumption might increase the risk of stomach cancer or leukemia; the data were considered inconclusive and additional study was recommended.

One largely discredited study which found that coffee intake was associated with an increased risk of pancreatic cancer, is often used as a model for how a flawed study design can lead to misleading research results. In that study, researchers analyzed a number of "exposures" among patients with pancreatic cancer, including coffee intake. Because of the number of factors examined, many scientific researchers call this sort of study a "fishing expedition." As reasonable as it may seem to examine many factors at once, the problem is that if you look at enough exposures, one or more will show an association just by chance. So there is a danger of generating misleading results if you cast too wide a net, and well-respected researchers avoid doing so, or they make statistical adjustments to account for analyzing many variables in a single study.

Coffee May Be Good for You

It may surprise you to learn that there are therapeutic uses of caffeine other than as a stimulant to avoid sleep (as in NoDoz, Vivarin and many others):

Newborns, especially those who are premature or have undergone surgery just after birth, may be treated with caffeine to stimulate their breathing.
Many over-the-counter headache or pain remedies include caffeine (such as Excedrin, which also contains acetaminophen and aspirin). The effectiveness of these agents may be related, at least in part, to the treatment of caffeine withdrawal, a common cause of headaches.
Studies have examined whether caffeine could be useful in the treatment of asthma, given its dilating effects on airways, and several have found modest benefits. In fact, some recommend that coffee intake be avoided before breathing tests because the abnormalities that breathing tests aim to detect may be diminished by caffeine intake.
Coffee has several effects on the intestinal tract. Although it increases stomach acid and gallbladder contractions, it has not been definitively linked to ulcer disease, it may protect against pain from gallstones and it may even act as a remedy for constipation.
A 1999 review (in the medical journal Gut) found a reduced risk of colon cancer among coffee drinkers compared with nonusers, although this association has not been widely accepted and has not led to any specific recommendations to encourage coffee's use.
Several studies published in 2003 suggest that coffee reduces the risk of Parkinson's disease. some research suggests that as little as one cup a day can reduce the risk by 50%. Why this may be the case is uncertain, and no clearly benficial effect of coffee has been demonstrated for people who already have Parkinson's disease.
At the American Society for Nutrition's annual conference, Experimental Biology 2007, researchers reviewed evidence that moderate intake of coffee (3 to 5 cups per day) might reduce the risk of diabetes, Alzheimer's disease, kidney stones, gallstones, and depression. Other potentially beneficial effects of coffee included a reduced risk of adenomas of the colon (a precursor of cancer), liver cancer and rectal cancer although the data on these were not conclusive.
Contrary to popular belief, coffee is not an effective way to reverse the effects of inebriation.

For the vast majority of coffee drinkers, the news is encouraging: the health risks are minimal if present at all. There are probably rare, high-risk patients who are better off avoiding the stimulant action of caffeine or the heartburn provoked even by decaffeinated coffee.

Perhaps the biggest problem of all for most coffee drinkers is its financial impact. The cost of a cup of coffee can be $3 or more at many specialty coffee shops now. It may be true that the best reasons to drink coffee or to avoid it have little to do with your health.

Robert H. Shmerling, M.D. is associate physician at Beth Israel Deaconess Medical Center and associate professor at Harvard Medical School. He has been a practicing rheumatologist for over 20 years at Beth Israel Deaconess Medical Center. He is an active teacher in the Internal Medicine Residency Program, serving as the Robinson Firm Chief. He is also a teacher in the Rheumatology Fellowship Program.

BOCOG, sponsors join hands to fight ambush marketing

BOCOG issued a written proposal aimed at joint anti-ambush marketing work efforts Monday morning during a symposium on anti-ambush marketing for the Beijing 2008 Olympic Games. Representatives of the Olympic worldwide partners and the partners and sponsors of the Beijing 2008 Olympic Games enthusiastically accepted the proposal.

At the symposium, representatives of the BOCOG marketing and legal affairs departments discussed with those present the anti-ambush marketing work efforts over the course of 2007, including the thought processes and strategy. Representatives from the State Administration for Industry and Commerce also offered suggestions regarding the protection of intellection property rights.

Next year will be the decisive year of battle for the Beijing 2008 Olympic Games, and brand protection remains a significant task. In the proposal, BOCOG explicitly states the following:

-- The Olympic worldwide partners and Beijing 2008 Olympic partners and sponsors do not engage in any kind of activity that would promote ambush marketing.

-- The various industry associations actively develop Olympic brand protection as well as activities and promotional efforts surrounding anti-ambush marketing education

-- Advertising agencies should increase their understanding of Olympic marketing regulations, respect professional ethics, and not engage in ambush marketing activities.

Some 30 Olympic worldwide partners and Beijing 2008 Olympic partners and sponsors as well as their relevant industry associations were invited to attend the symposium.

3,000 first-aid volunteers offer services for Beijing Olympics

Some 3,000 volunteers will offer special medical services at the Olympic venues during the Beijing 2008 Olympic Games next year, Vice director Dai Jianping of the BOCOCG Games Services Department said at a medical conference on Sunday.

The Beijing Olympic medical treatment network consists of four basic service sectors of medical volunteers, medical treatment stations, ambulances, and designated Olympic hospitals.

Patients will be able to receive first aid from medical volunteers at the venues and be transported to one of 219 medical treatment stations immediately. Intensive care is available by taking the ambulance to the hospitals in the Olympic Village or to Olympic-designated hospitals in the city.

Lifetime driving ban for 119 drivers in Beijing

The Beijing Municipal Traffic Management Bureau recently added eleven new names to the list of those serving lifetime driving bans, bringing the total number of banned drivers to 119 since the traffic law took effect in 2004.

The third batch of drivers are all males who have committed crimes by running away from major accidents since May.

This group of drivers ranges in age from 30 to 45, some with as little as one year of driving experience and others with upwards of 19. Overall, 72.7 percent of them have been driving more than five years and 36.4 percent for over a decade.

The lifetime ban was given to a majority of the drivers for their numbness or carelessness in driving, which later caused traffic accidents.

Traffic law states that anybody who escapes after a serious traffic accident will be ineligible to ever drive again.

Beijing's population forecast to top 21.4 mln by 2020

Beijing's population is expected to top 19.5 million by 2015 and climb to 21.4 million by 2020, according to a research report released on weekend.

The figure is much more than the city's target of 18 million for 2020, according to the Strategic Report on Population of Beijing, Tianjin and Hebei," released at the Beijing Population and Development Forum held in Beijing.

Qu Zhenwu, a professor of Institute of Population Research attached to Renmin University, attributed the rapid population growth in Beijing to continuous influx of migrants.

"Although Beijing saw zero growth in natural birth rate for the past five years, its population kept expanding as a result of a mass of migrants," he said.

The expert suggested that the population of Beijing be kept under 17 million while the total population in Beijing and its surrounding Tianjin Municipality and Hebei Province below 110 million.

Researchers called for closer cooperation in economic development in Beijing, Tianjin and Hebei to narrow gaps among the three regions.

Beijing had 15.6 million permanent residents at the end of last year, a rise of 1.4 percent, or 220,000 people, from 2005, according to the city's family planning committee.

Growth in the capital's population over the past five years has been rapid. The population has increased by over 10 million, making it among the world's most populous cities.

Liu and Powell work toward Beijing golds

World record hurler Liu Xiang and 100 meters sprinter Asafa Powell are confident of picking up gold medals in their respective events at next year's Olympic Games in Beijing.

"We like each other very much and I think Powell is the greatest 100-meter sprinter in the world," Liu said yesterday. "I expect him to win every race because of his determination and his single-minded purpose as he speeds towards the line. This is the most important mindset for any athlete in a competition."

Powell said he liked Liu and enjoyed his sense of humor.

"I will have to train intensively from now on .... in fact I have already begun my preparations for the Games," the Jamaican said. "I will come to Beijing ahead of time next year to adapt to the climate."

Liu too said he was getting ready with his preparations.

"I will go to Beijing next week to begin my intensive training and I think we are both confident of winning medals," said Liu, who carries China's hopes for an athletic gold at the Olympics.

Shanghai-born Liu is the first Chinese to win a gold medal in an Olympic sprinting event. He clocked 12.91 seconds in the 110-meter hurdles at the Athens Olympics before smashing a world record 12.88 at the Super Grand Prix in Lausanne, Switzerland, in 2006.

The track stars were in Shanghai for a promotion and to shoot for a TV commercial.

Netherlands takes half of Sunday's golds in UCI World Cup Beijing

Netherlands won titles in women's Keirin and men's individual in the 2007 UCI Track Cycling World Cup Beijing here on Sunday.

After winning men's team sprint with teammates Teun Mulder and Tim Veldt, Theo Bos took his second gold in Beijing after beating French Mickael Bourgain in men's individual pursuit final.

Sydney runner-up Kevin Sireau lost to Stefan Nimke of www.rad-net.de team in consolation final and failed to earn a medal.

Willy Kanis was crowned in women's Keirin in chaos for four of all six finalists fell just before the final track, including reigning world champion Victoria Pendleton of Great Britain, winner in World Cup Sydney in last week, and Natallia Tsylinskaya, bronze medalist in Sydney.

"I don't think I was lucky because I raced very well," said Kanis. "In the final I was in the leading position and then they crashed behind me."

The silver went to Christin Muche of Germany, who was the other one to finish the final.

Top-qualifying Ukrainian trio of Svetlana Galuk, Lesya Kalitovska and Lyubov Shulika beat russian's Eugeniya Romanyuta, Olga Slyusareva and Anastasiay Chulkova in the final of women's 3,000 meters team pursuit.

Official results were not immediately available due to problem with timing system, but Ukraine led throughout the 12-lap race and clocked three minutes and 33.360 seconds, one seconds less than their opponents did.

This was just the second time in World Cup history that women's team pursuit was contested. The first was last week in Sydney, Australia, in which Russia won.

"Now we were so excited to say anything about the achievement," said Galuk. "Maybe we should thank the audience in Laoshan Venue. Chinese people are very polite and ebullient. We can perceive the passion and the encouragement for us."

Jerome Neuville and Christophe Riblon took men' s Madison gold for France.

The French pair brought the final gold of the World Cup Beijing to France, leaving silver to T-mobile Track team's Mark Cavendish and Bradley Wiggins.

The bronze went to Ukrainian cyclists Lyubomyr Polatayko and Volodymyry Rybin.

Joan Llaneras Rossello and Carlos Torrent Tarres of Spain, runner-ups in World Cup Sydney last week, only placed fifth.

Gold and ticket, a big harvest day for Chinese shooting corps

After several cloudy days, long-awaited sunshine in the gulf city of Kuwait finally brought the Chinese shooting squad a long-awaited ticket to the men's double trap at the 2008 Olympic Games.

"Finally we got this quota place, which has been almost in our reach for several times," said Sun Shengwei, a coach in the Chinese national shooting team.

In the just-finished men's double trap competition, Pan Qiang snatched the gold medal with his perfect performance that aroused hurrahs from the audiences.

The 22-year-old Pan, who chalked up the same score as his teammate Wang Zheng with 142 hits in the qualification round, was one hit behind Alshamsy Saif Alshamsy from the United Arab Emirates.

In the first pair of the final, Alshamsy missed one, backing to the same starting line with the Chinese duo.

After Wang Zheng's lapse, another miss of the arabic marksman in the ninth pair gave the Pan a chance, but the boy lost soon in the next pair.

In the 16th pair, Alshamsy missed one again. Pan led among the six finalists.

Alshamsy's fourth miss occurred 23th pair.

While Pan raised his gun for the 24th shot, he was cautioned by the judge to mind the limiting line. Stepping back a bit, he fired, but hit only one bird.

Fortunately, a good ending with both hits of the last pair secured him the crown.

"After I finished the competition, I looked back, seeing my coach smiling. I knew that I got another quota place for China in this event," said the champion.

Pan noted that he has great pressure competing in the shooting range, especially in the next-to-last pair, when his pace was disrupted by the accident.

"When I aimed for the last pair, my hands were shaking," he said. "I know that I am going to win, if I could down them both."

Zhang Huiqun, a coach with the national team who had been pacing anxiously outside the shooting range, dashed towards the boy after the final, taking his gun and giving him a big hug.

The waiting Sun rose up from his chair, letting out a sigh and patted Pan's sun-tanned face gently as praise. The first quota place was acquired by Chinese shooter Hu Binyuan in the World Cup Surl Fort.

"To win or to lose, this is our last chance (to get the other)," Sun said.

In the men's 25-meter rapid fire pistol event, world champion Zhang Penghui surged from the third place to nail down an "unexpected" gold medal with 779.4 points.

The 30-year-old shooter didn't do well in the first part of qualification round. Due to the influence of strong wind, he scored only 286 points.

Although he managed to edge into the final, Zhang's qualification score, 579, was two points behind Malaysian marksmanHasli lzwan Amir Hasan and four points behind his teammate Liu Zhongsheng.

In the four-set final, the champion of 2006 World Shooting Championships achieved a 50.4 in the first set. Despite a 47.5 point in the second set, he impressed audiences with the following two scores reported as 51.2 and 51.3, highest among all finalists.

Out of his expectation, Amir Hasan failed to keep his momentum in the final and collected only 195.6 points to bring back a silver.

Liu was worse, chalking up a startling 189.8 to surrender his medal to Republic of Korean Cha Sangjun, who got the bronze with 773.0 points.

Sunday saw eight gold medals distributed at the 11th Asian Shooting Championships, among which Chinese shooters seized seven. Men's 50-meter rifle prone event shall take place on Monday, when the Chinese corps is to vie for two quota places.

Newly-crowned Asian champion Pan returns to starting line

KUWAIT CITY, Dec. 9 (Xinhua) -- Pan Qiang, who just presented China an Olympic quota place in men's doubles trap by winning in the event at the 11th Asian Shooting Championships here on Sunday, viewed the victory calmly.

"Now that the competition is over, it's time to forget it and return to the starting line," said the 22-year-old boy who just fired in international competition finals for the second time.

From east China's Shandong Province, Pan entered the final with 142 hits in the qualification round, the same score as his teammate Wang Zheng and one hit behind Saif Alshamsy from the United Arab Emirates.

In the first pair of the final, Alshamsy missed one and drew with the Chinese duo.

After Wang Zheng's lapse, another miss of the arabic marksman in the ninth pair gave Pan a chance, but the boy lost it soon in the next pair.

In the 16th pair, Alshamsy missed one again. Pan led among the six finalists.

Alshamsy's fourth miss occurred at the 23th pair.

While Pan raised his gun for the 24th shot, he was cautioned by the judge to toe the limiting line. Stepping back a bit, he fired, but hit only one bird.

Fortunately, a good ending with both hits of the last pair secured him the crown.

"After I finished the competition, I looked back, seeing my coach smiling. I knew that I got another quota place for China in this event," said the champion.

Pan noted that he has great pressure competing in the shooting range, especially in the next-to-last pair, when his pace was disrupted by the accident.

"When I aimed for the last pair, my hands were shaking," he said, "I know that I am going to win, if I could down them both."

The first time Pan shot in the final of international events was in the Lonato Fort of World Cup in Shotgun this past June, when he had a near miss with the quota place by finishing fifth.

"This time my luck is good," he said. "We have made plans for competing in windy days, but today is sunny."

Fighting shoulder by shoulder with his teammate Wang Zheng helped ease his nervousness. "Realizing that he is standing next to me, I was reassured."

Zhang Huiqun, a coach with the national team who had been pacing anxiously outside the shooting range, dashed towards the boy after the final, taking his gun and giving him a big hug.

The waiting Sun rose up from his chair, letting out a sigh and patted Pan's sun-tanned face gently as praise.

"I had been worried for him after the judge's caution, for fearit would disrupt his performance, but he managed to tide over," said Sun smilingly.

"This kid is a good shooter, as pure as a piece of white paper and always confident in competitions," he said.

It is still undecided whether Pan would show up in the Olympic arena.

Currently he was ranked fifth in the national squad in the discipline.

On top of the list was Hu Binyuan, who brought back to China the first quota place in men's double trap from the World Cup SurlFort.

After Hu was Wang Nan, Asian Games gold medalist who was ranked seventh in the qualification round this time and failed to dart into the final. His advantage against Pan Qiang is not distinctive.

Therefore, theoretically speaking, Pan still has the chance to compete in the Olympics.

But the quiet boy didn't seem to care about this too much.

"I got this quota place for my country," he said. "My task is to do my best in each competition."

Canadians show apathy about 2010 Winter Olympics

One in three Canadians do not know the Winter Olympic and Paralympic Games will be held in Vancouver, Canada in 2010, said a poll released on Thursday.

The poll, which was conducted by Decima Research for the federal government, revealed that in Ontario, only 60 percent of people correctly identified the location, and in Quebec 43 percent, Alberta 68 percent and British Columbia, 97 percent.

The poll came out on the same day when Vancouver mayor Sam Sullivan was in Toronto promoting the Games.

However, Sullivan said he is confident the games will be a boost for Canada and that they will bring "us together as a country."

Chinese shooters continue gold spree with record breaking shows

After a warming-up on Wednesday when China wrapped up all the four gold medals, Chinese sharpshooters continued sweeping the shooting ranges here on Thursday with their record breaking and equaling shows to bag nine of the ten golds.

Markswomen grabbed the gold of 10-meter air rifle team event with a record-smashing 1,196 points, two points ahead of the previous world record set by Chinese team as well in the 2002 Busan Asian Games.

The team was composed of Olympic gold medalist, world record holder of women's 10-meter air rifle Du Li, champion of the World Cup Bangkok and Guangzhou forts Zhao Yinghui and gold medalist of the 50-meter rifle three positions at the 2005 World Cup Finals WuLiuxi.

Du and Zhao both scored 399 points in the qualification round and Wu collected 398.

In the ten-shot final, the 25-year-old Du, who is ranked world No. 1 of the discipline, stunned the audiences by hitting the bulls eyes with all of the first nine shots above 10 points, including six above 10.6.

Although, after a failure of the electronic screen which begot a small fuss, she finished her performance with a 9.3 point, her 1st position seemed unshakable.

Du said she was regretful at the result.

"I thought I was going to break the world record and suddenly felt nervous," said Du with low voice as her head drooped, "I had been aiming too long before making the shot."

The girl from east China's Shandong Province, who created the world record at the 2003 Croatia World Cup with a staggering 104.9points, was always the last of the eight finalists to open fire.

In the last shot, she needed only a 10.6 point, a score seemed easy to her, to renew the record.

Du's teammate Zhang Yi might have renewed the world record as well, had the record still been renewable.

Zhang, 21, who carved out in the 2006 World Championships by pocketing junior gold of women's 10-meter air rifle, equaled junior world record with 400 points, or the full points, in the qualification round.

The junior record, set by South Korean shooter Seo Sun Hwa in World Cup Sydney Fort, was the same as the world record shared by Chinese markswomen Du Li, Zhao Yinghui and Wu Liuxi together with some others from South Korea, Australia, Germany, Russia and India.

Chinese teenage shooter Li Peijing clinched a silver with 497.8points.

In men's events, Xu Kun added another gold of men's 50-meter pistol with 662.3 points, and teenage shooters Yan Hang and Mai Jiajie split gold and silver in the junior competition of the event.

Thanks to their performances, all five team golds were pocketed by Chinese team.

The only gold medal Chinese lost today was the one for women's trap, in which China's Chen Li, champion of the Doha Asian Games last year, marched into the final with a leading 65 hits, but yielded to Kazakhstan markswoman Elena Struchaeva to finish the sixth.

Good or bad, the scores "only belonged to a single event," said Wang Yifu, head coach of the Chinese national shooting team, "they should maintain the sharpness in the following competitions."

FINA says Hungarian Olympic swimmer not guilty of doping

The world swimming governing body FINA said on Wednesday that it believes Hungarian Olympic champion swimmer Agnes Kovacs was not guilty of doping, according to news agency MTI.

FINA officially informed the Hungarian Swimming Association that it agreed with the Hungarian Swimming Association's opinion on this matter and would not appeal it.

Kovacs was implicated after providing an insufficient sample on October 30. She said she had been unable to complete the unscheduled test because she had to leave to attend a previous engagement with UNICEF goodwill ambassador Sir Roger Moore. Another test taken on November 8 was found negative.

The disciplinary committee of the Hungarian Swimming Association ruled that Kovacs had had a valid reason for leaving and that she had not violated doping regulations.

It criticized the Hungarian anti-doping authority for not appointing someone to accompany Kovacs and remaining with her until such time as she could provide a sufficient sample, as international sampling rules dictate.

FINA called on the Hungarian Swimming Association to relay its concerns to the anti-doping authority and warned that it was not setting a precedent with the ruling.

FINA only will accept a temporary interruption of a sample-taking session under very special circumstances, it underlined.

Unlicensed radio devices barred from entering Olympic

Radio devices will among the objects that security personnel at the venues for the Olympic Games will specifically be on the lookout for, according to an official of the Ministry of Information Industry.

Equipment without a special license tag will not be allowed into the venues, the Beijing Olympic Radio Management Joint Committee stressed at a meeting on Wednesday.

Zhang Shengli, director of the ministry's Bureau of Radio Regulations said that only the following would be allowed into the Olympic venues: roaming terminals that access public mobile telecommunication networks in China's mainland (mobile phones in particular); embedded wireless network cards in portable PCs; vehicular radio remote control keys with transmission power below 1mW; and radio remote control accessories for cameras, which either do not need approvals to operate in China's mainland or do not require a special "Radio Equipment License" tag.

Low power or short range radio devices, including wireless microphones, cordless phones, wireless remote control toys, public radios, walkie-talkie systems, handheld mobile radio services, satellite news gathering devices, microwave mobile links, fixed links, interpretation service systems, in-ear monitoring systems, cordless cameras, telemetry and telecommand systems, and wireless LANs, cannot be operated inside any Olympic venue or special control zone without the permission of the relevant radio management departments and without a "Radio Equipment License" tag during Beijing Olympic Games and its preparation period, in accordance with the provisional regulations jointly published by the Ministry of Information Industry and BOCOG.

China-made satellite navigation system to serve Olympics

A leading engineer for China's indigenous satellite navigation system said the new system would be used in guiding traffic and monitoring sports venues during the Beijing Olympics in summer 2008.

Ran Chengqi, deputy director of China Satellite Navigation Engineering Center, said the Compass Navigation Satellite System, which consists of five positioning satellites orbiting the Earth, will help alleviate traffic problems during the Olympics by providing detailed positioning information to individual drivers.

The home-grown navigation system, coded as Beidou in the Chinese pronunciation for the compass, can not only pinpoint precise locations of moving vehicles, but also tell drivers real-time traffic on routes to their destinations, Ran said at an international navigation industry forum in Shanghai.

In working for the Olympics, Ran said, the Beidou system would be compatible to the prevailing global positioning system (GPS), which was developed by the U.S. military and is now in pervasive civilian use worldwide.

China had primarily constructed the experimental satellite navigation web by May 2003, via launching three Beidou satellites into space. In February and April 2007, another two satellites were separately sent into orbit. The cluster of five Beidou satellites are comprised of the main infrastructure of the Chinese satellite navigation network.

China is going to launch more navigation satellites in 2008, the Shanghai-based Wenhui Daily quoted Ran as saying.

Besides the specific employment for the Beijing Olympics, Ran said, the Beidou system would also benefit wider applications from transportation, fishery, mining, to wildfire surveillance, Ran said.

In addition to the GPS and GLONASS, which was funded and constructed by the Russian military, the European Union invested in 2003 roughly 3.6 billion euros in developing an ambitious project, Galileo, which is planned to group 30 navigation satellites. The Galileo project does not run smoothly because of fund shortage.

Chen Zhonghe: New faces may appear at winter training

The Chinese Women's Volleyball Team will start its last intensive training season before the 2008 Olympic Games beginning January 1, 2008, in Zhangzhou. The team's coach, Chen Zhonghe, revealed that new faces may appear for training.

Young athletes like Zhang Xian and Wei Qiuyue, who were selected for last year's winter training, proved to be excellent.

Now, Chen is guiding the four veterans -- Zhao Ruirui, Feng Kun, Yang Hao, and Zhou Suhong -- in doing recovery exercises. Chen explained that he would select some new athletes to train for the national team.

"It depends on their capabilities," said Chen. Since Wei and Zhang had good performance in last year's competition, Chen decided to give more opportunities to freshmen.

Who will be chosen to join in winter training is to be decided through interviews in Beijing.

The winter training season will be the most important training before the Olympic Games. It will last four months. During that period, the Chinese girls would still participate in a series of warm-up competitions to adjust and improve.

Amyotrophic Lateral Sclerosis Genetic Testing Basics - Medicine and Health

Amyotrophic Lateral Sclerosis

What is amyotrophic lateral sclerosis (ALS)?
Amyotrophic lateral sclerosis (ALS) is more commonly known as Lou Gehrig's disease. It was named after a famous baseball player who contracted the disease. ALS causes destruction of the nerve cells responsible for coordinating communication between the brain, spinal cord and muscles. When muscles no longer receive information from the spinal cord, they begin to shrink. People with ALS lose the ability to control their muscles. The disease does not affect a person's mental abilities. ALS is a progressive disorder because it continues to get worse over time.

People with ALS typically experience the following symptoms:

Muscle weakness
Muscle twitching
Muscle wasting
Poor coordination or clumsiness
Muscle cramps
Difficulty speaking or swallowing
Increased or decreased reflexes (caused by unhealthy nerves)
Muscles that become more rigid
Only about 5% to 10% of ALS cases are inherited. The other 90% not caused by genetics are called sporadic. The average age for someone to first see symptoms of sporadic ALS is 56. People with ALS that is genetic (it runs in the family) see their symptoms start at about age is 46. Symptoms for both causes of the disease may appear earlier or later in life.

Although ALS does not occur in distinct stages, the symptoms are progressive, meaning they get more severe over time. Symptoms depend upon which nerve groups have been damaged or destroyed.

Early stages — The first signs of ALS are often clumsiness or weakness of the hands and arms or weakness of the muscles that control speech and swallowing.
Later stages — The leg muscles become weak and poorly coordinated. Other muscles, such as those that control speech and swallowing, may become impaired.
Long term — The entire body begins to weaken and shut down. Vital muscle functions, such as breathing, become impaired. This typically leads to death.
In most cases, ALS causes death a few years after symptoms begin. With inherited ALS, the disease may progress more slowly.

How common is ALS?
Every year, between one and two people out of 100,000 are diagnosed with ALS. The disease affects men slightly more than women (about four men for every three women). In a country the size of the United States, 3,000 to 6,000 new cases per year are reported.

Who is at risk of ALS?
In most cases of ALS, there is no way to tell if someone is at risk. About 90% of ALS cases are sporadic, meaning the affected person does not have a family history of the disease or anything else that would put him or her at increased risk. In the other 10% of ALS cases, called familial, the disease runs in the family. Researchers do not know the cause of ALS or why it has genetic and non-genetic varieties.

Is my ethnic background the key to my risk?
No. Both forms of ALS (sporadic and familial) occur among people of every ethnicity and race.

Is my family history the key to my risk?
It's not the key, but it is one factor. Almost 90% of cases occur in people who do not have a family history of the disease. Predicting who will get the sporadic form is impossible.

If you have a family history of ALS, figuring out your risk is not easy. Different families have different genes that may make different family members more or less likely to get ALS.

Dominant inheritance. You only need to get one copy to be affected. For example, if one of your parents had ALS caused by a dominant gene, you would have a 50% chance of inheriting the changed gene from that parent.
Recessive inheritance. You need to get one changed gene from each parent to be affected. If you only get one changed gene, you will be a carrier. Carriers do not have the disease; they have one normal copy of the gene and one altered copy. If you're a carrier, one or both of your parents must have been carriers. This also means your brothers and sisters have at least a 50% chance of having inherited the gene from one of your parents.
X-linked inheritance. The X and Y chromosomes make a person male (XY) or female (XX). When a man inherits a change in a gene on the X chromosome, he most likely will be affected by that disease. In the same situation, a woman will be just a carrier because she has a "backup copy" of the gene on her other X chromosome.
Is there a cure?

No. However, people with ALS may benefit from technologies — for example, motorized wheelchairs and electronic communication devices — to compensate for their disabilities.

Related Reading
Amyotrophic Lateral Sclerosis

The Gene For ALS

What goes wrong with this gene?
A handful of genes have been associated with ALS. The best-understood gene is called superoxide dismutase-1 (SOD1). This gene provides the instructions to make a protein called superoxide dismutase. The SOD1 gene is important for the survival of nerves that send electrical signals from the brain to the muscles. Some scientists believe that the lack of SOD1 leaves cells more vulnerable to "programmed cell death," a process used throughout the body to remove cells that are not functioning properly. With this type of "self-destruct" program around, the cell needs some checkpoints to prevent programmed cell death from happening in normal cells. SOD1 could be one of those checkpoints. When you don't have SOD1, nerve cells that should stay alive might be killed off. When the nerves die, the muscles stop working.

Researchers have described more than 100 changes throughout the SOD1 gene. One change is associated with a more rapid progression of the disease, while another change is associated with a slower progression.

Most of the changes in SOD1 cause dominant ALS, meaning you only need to inherit one copy of the change to develop the disease. Changes in SOD1 account for about 20% of inherited ALS cases. Genetic testing is only available for the SOD1 gene. In the other 80% of inherited ALS cases, specific genes have not been found or there is no test available.

Should You Be Tested?

What types of tests are available?
Diagnostic testing
If you have ALS, you can obtain a DNA test to determine whether the disease is caused by a change in the SOD1 gene. Even if you have ALS, your chance of having a change in the SOD1 gene depends on your family history. Remember, most cases of ALS are not related to a change in the SOD1 gene. Work with your doctor to help you decide whether genetic testing makes sense for you.

Pre-symptomatic testing
If you have no symptoms of ALS, a pre-symptomatic test may tell you how likely you are to get the disease in the future. If you have a close family member, such as a parent or a sibling, who has a change in the SOD1 gene, the DNA test can identify whether you share the same change in your SOD1 gene.

Pre-symptomatic testing is controversial because the test cannot determine when you will start having symptoms of ALS or whether you will develop the disease. If you have a change in the SOD1 gene, it does not necessarily mean you will get ALS.

With few exceptions, to qualify for testing you must either have symptoms of the disease or have a close relative (parent or sibling) who has been diagnosed with the disease. Pre-symptomatic testing of children for ALS is typically discouraged. According to generally accepted guidelines for genetic counseling, children under 18 should not be tested for a disease that begins in adulthood unless there is specific benefit to the child.

If you are concerned about your risk for ALS, speak with a medical professional who is knowledgeable about the disease to find out if testing is appropriate for you.

Carrier testing/Prenatal testing
If you have a family history of ALS, carry a change in the SOD1 gene and have a baby on the way, you might want to find out whether your child carries the same change. Even if both you and your future child have a change in the SOD1 gene, it does not mean that either one of you will develop ALS.

Understanding Test Results and Options

How Do You Make Sense Of The Results?

The results of DNA testing for ALS are complicated and rarely provide definitive answers. That's why you should have you results reviewed by a medical professional familiar with the test. He or she can explain how the results apply to you.

What does a positive result mean for me?
If you have symptoms of ALS and test positive for the SOD1 gene, you already know how challenging the disease can be. If you do not have symptoms and you learn that you have inherited the gene for ALS, you might start developing symptoms at about 40 years of age, but it could be many years later. The type of mutation may tell you if the disease is more likely to progress quickly or not, but these predictions are not perfect.

What does a positive result mean for my family?
If you test positive, your brothers, sisters and each of your children have a 50% chance of having inherited the gene. Your brothers and sisters may want to be tested to find out whether they carry the ALS gene. According to generally accepted principles of medical ethics, children under 18 should not be tested for adult diseases such as ALS unless there is an immediate benefit to the child.

Could I get a positive test result, but not carry the disease gene (a "false positive")?
Yes. Sometimes testing uncovers a change in the gene that has not been seen before. When this happens, the laboratory may not know if this change causes the disease or not. Once a new change is seen in several people with ALS, but not seen in healthy people, the laboratory can say that the change causes the disease.

Could I get a negative test result, but actually have the disease (a "false negative")?
Yes. Because more than one gene can cause ALS, not having a change in the SOD1 gene only tells you "there's not a change in your SOD1 gene." You may still get ALS after a negative test because 90% of ALS cases are sporadic.


Personal Questions

How will I cope if the test shows I might develop ALS?
Learning that you are affected by a serious illness is difficult. No formal research has been done on the psychological effects of genetic testing for ALS. Research on people with Huntington's disease, another disorder that gets progressively worse, has shown that people receiving test results tend to accept the news after a period of adjustment.

People who receive negative test results also may need to cope with new feelings. Some report that they feel guilty that they did not get the disease, especially when one of their brothers or sisters was found to carry the gene.

Ultimately, everyone will deal with the information in his or her own way. Most importantly, people who undergo testing should have support available, including friends, family and professional counselors.

If I have the ALS gene, can I have children who don't have the gene?
Yes. If you have the SOD1 gene, you have a 50% chance of passing it on to each child you have.

If I DON'T have the ALS gene, can I have children who DO have the gene?
Yes. If you and your partner do not have a change in the SOD1 gene, then your child cannot inherit the change from you, but it is possible that your child could have a new genetic change that has not been in the family before. Nobody knows exactly how often this happens in the SOD1 gene, but the odds are against it.

Test Details

How does the test work?
The ALS test requires a blood sample. A lab obtains DNA from the blood and looks at the SOD1 gene. If the lab notes any changes from the normal sequence, the test will be reported as "positive."

If you decide to be tested for ALS, you should do it at a medical center that has experience with presymptomatic genetic testing.

If you're thinking about being tested, you probably have a family member with ALS. The neurologist caring for your family member can refer you to a testing center. A center has neurologists, geneticists and counselors with experience in dealing with the complicated issues related to genetic testing. You will have to sign a consent form indicating that you understand and agree to the test.

What do the tests cost?
The test costs about $600. Costs vary slightly depending upon which lab does the testing.

Does insurance pay for the test?
Most health-insurance companies pay 80% or more of the cost of the test. Some companies pay all of the cost, but others won't pay any portion. If you are considering this test, call your insurance company and ask about its coverage.

How long does it take to get results?
The results of DNA testing for inherited ALS may take up to three months. The results will not be reported directly to you. Instead, the laboratory provides the results to the medical center that ordered the test. You need to return to the center for another appointment to discuss the results. This way, your family and friends can be there for support when you receive the results.

Can a health-insurance company raise my rates or drop me from coverage if I test positive?
Not usually, though this may depend on whether you have group insurance or are self-employed. Both federal and state laws usually cover people with group insurance, while state laws only cover people who are self-employed. Also, the Federal Health Insurance Portability and Accountability Act (HIPAA) of 1996 prohibits health insurance discrimination based on any "health status-related factor," (including genetic information) by group health plans. Unfortunately, this act does not apply to the self-employed.

Some states have enacted legislation to cover the gaps. Most states prohibit health-insurance companies from using genetic information to deny coverage. Other states require specific justification for the use of genetic information in denying a claim. Texas bans the use of genetic information by any group health plans, and Alabama prohibits discrimination based upon predisposition to cancer.

Life insurance, long-term care and disability insurance are generally not covered by these laws. People with life and disability coverage provided by their employers are unlikely to have this insurance affected by a genetic test result.

Ataxia Telangiectasia Genetic Testing Basics - Medicine and Health

Ataxia Telangiectasia

What is ataxia telangiectasia?
Ataxia telangiectasia (A-T) is a rare but deadly childhood disease that primarily affects the brain and immune system. A-T is a degenerative disease, meaning it gets progressively worse over time. Children with A-T often require a wheelchair by age 10. In the United States, most people with A-T live well beyond 20 years. This is a major change from just a few years ago. Survival for patients in other parts of the world is not as good, perhaps due to lack of good nutrition and therapy.

Symptoms of A-T usually develop in the first 10 years of life, and can include:

Neurological problems, such as a staggering and unsteady pattern of walking, poor coordination, poor balance, slurred speech, uncoordinated eye movements and hearing loss. These develop slowly during childhood as certain nerve cells deteriorate over time.
Skin spots (like birthmarks) or bumps caused by an abnormal pattern of dilated capillaries. They appear as tiny red "spider" veins, commonly on the white part of the eye or on the ears and cheeks.
An increased risk of cancer. About 40% of people with A-T develop some type of cancer in his or her lifetime.
A weakened immune system, which causes frequent infections, such as respiratory infections and pneumonia
Increased sensitivity to X-rays and radiation for cancer treatment. People with A-T and carriers of A-T who receive radiation for cancer treatment should receive lower doses. Other types of radiation, such as CT scans and X-rays, should also be minimized.
Type 2 diabetes can develop in some patients with A-T in their late teens. Type 2 diabetes is the adult-onset form of the disease.
Prematurely gray hair
Difficulty swallowing
Delayed physical and sexual development
Children with A-T usually have normal intelligence.

How common is ataxia telangiectasia
A-T occurs in about 1 of 40,000 live births in the United States. The chance of carrying one change in the gene responsible for the disease is about 1 in 100.

Who is at risk of ataxia telangiectasia?
A-T affects people from all different ethnic groups. People are not at increased risk based on their ethnic background. Someone is typically at increased risk due to his or her family history.

Is there a cure?
No. And there are no standards of treatment. However, there are methods aimed at prolonging survival and improving a person's quality of life:

Antioxidants, such as vitamin E or alpha-lipoic acid, are recommended as a general anti-cancer regimen.
Physical therapy helps to prevent stiff muscles.
Speech therapy may help to maintain communication skills.
Some patients need infusions of gamma globulin (antibodies) to help prevent severe infections.
The Gene For Ataxia Telangiectasia Disease

What goes wrong with this gene?
The gene that causes A-T is called ataxia-telangiectasia mutated (ATM). This gene tells the body how to make an essential protein. If someone inherits two changes (one from mother and one from father) in the ATM gene, the child will not be able to make enough of the ATM protein, which is critical for proper growth and maintenance of the body.

This protein plays an important role in cellular division in the brain during development. If brain cells do not develop correctly, the child will eventually have motor and neurological problems — the very symptoms of A-T.

In addition, the protein acts as a sensor to detect breaks in the DNA. DNA is like a chain of letters. Something like radiation can damage the DNA by breaking that chain of letters, causing a gap between two parts of the chain that are supposed to be connected. Gaps in DNA can cause a change in one of the genes. Normally, when the body notices a break in the DNA, it tells the cell to stop dividing (that is, growing). People with A-T lack this quality-control measure. In fact, telangiectasias (which looks like a birthmark) results when the cells that make capillaries grow out of control. A similar type of abnormal cell growth often leads to cancer in A-T patients.

Should You Be Tested?

What is my risk of being an ataxia-telangiectasia carrier?
Your chances of being a carrier depend on your family history. If someone in your immediate family has A-T or is an A-T carrier, you too could be a carrier. If you have a brother or sister with A-T disease, you have a two-thirds chance of being a carrier. If one of your parents is a carrier, and the other one is not, you have a 50% chance of being a carrier. If your child has A-T disease, it means you and your partner are both carriers of the altered ATM gene.

Understanding Test Results and Options

How Do You Make Sense Of The Results?

If I test positive as a carrier, what does that mean for my family and me?
If your child has ataxia-telangiectasia disease, you and your partner are both carriers of the altered ATM gene. If you have a close family member with A-T, you might be a carrier. Carriers do not have the full disease; they have one normal copy of the gene and one altered copy. You only need one "working" copy to avoid the full disease. If you're a carrier, one or both of your parents must have been a carrier too. This means your brothers and sisters have at least a 50% chance of having inherited the gene from one of your parents.

Could I get a positive test result, but not carry the disease gene (a "false positive")?
The DNA test for A-T is based on reading the DNA sequence of the gene, and is very specific. If your family includes someone affected by A-T, and this person has a change in the DNA sequence, the lab can look for that same DNA change in you and other family members. In this case, the test will or will not see the same DNA change. There are essentially no false positives.

Sometimes the lab will see a change in the sequence that has never been seen before. It may not be clear if this change causes A-T or not. In this case, they would not tell you that the test is definitely positive, so this would not be a false positive either.

Could I get a negative test result, but actually have the disease (a "false negative")?
False negatives occur in less than 5% of cases tested by sequencing and in about 20% to 25% of cases tested by mutation scanning. This means you could have the disease even though the lab was not able to find a change in the gene. Instead, the disease could be due to a change in an untested part of the gene. In such cases, the lab might be able to use another test called linkage analysis to look for evidence of a genetic change.

Personal Questions

How will I cope if the test shows I am an A-T carrier?
Keep in mind that a carrier does not have the full disease. Carriers, however, may be more sensitive to X-rays and radiation therapy for cancer. It is possible that A-T carriers have an increased risk of developing cancer, but the exact risk is not known. If you are an A-T carrier, each of your children has a 50% chance of inheriting the ATM gene from you.

If I have the A-T gene, can I have children who don't have the gene?
Yes, but you need to "do the math" to understand the risks of passing on the mutated gene.

If you're an A-T carrier and your partner is not, you have a 50% chance of passing the gene to each child. In other words, even if your child inherits your copy of the ATM gene, the child will NOT have A-T, but will be a carrier, like you.

If you and your partner are both A-T carriers, your child has a:

25% chance of inheriting A-T (two copies of the ATM gene)
50% chance of being a carrier (one ATM gene and one normal gene)
25% chance of not being a carrier (two normal genes)
While pregnant, can I determine the risk my baby has of developing ataxia-telangiectasia disease?
To discover whether your unborn child has inherited A-T, you and your partner can seek prenatal testing. Prenatal testing for A-T is only available if you already have a family member with the disease.

The lab looks for changes in the ATM gene in the affected family member. If the affected family member has two identifiable changes in the gene, the lab will look for those same changes in you and your partner. If one or both of you are NOT carriers of these same changes, then your fetus will not inherit A-T from you. If you are both carriers, then your fetus might have the disease, and the lab can look for the same changes in your fetus.

If the affected family member has only one identifiable change in the gene, they must have another change that is undetectable. In this case, your family member would need to have another test called linkage analysis. Linkage analysis can also be used for prenatal testing.

Early in the pregnancy, a doctor can use either chorionic villus sampling or amniocentesis to get a sample of tissue from the fetus. A lab tests the tissue to determine if the fetus has inherited the change in the A-T gene. A baby that inherits only one changed A-T gene will be a carrier. A baby that inherits two changed A-T genes will have the disease.

It's best to plan genetic testing prior to, or early in, the pregnancy. Talk to an obstetrician or a genetic counselor about your options.

If I DON'T have the A-T gene, can I have children who DO have it?
If you're not a carrier, your children cannot inherit the gene from you. They could still get the gene from your partner, if he or she is a carrier, but your children would not get A-T because they would only have one altered gene.

Is there any harm in finding out if I carry the gene?
You may feel upset if you learn that you carry a gene that could potentially cause a disease in your future children.

Test Details

How does the test work?
There are three types of DNA tests for A-T. All require a blood sample, chorionic villus sample or amniotic fluid sample. Testing is used to confirm the presence of A-T in a person who has some or all of the symptoms of the disease, or to test family members to see if they are A-T carriers.

Direct DNA Sequencing
DNA sequencing "reads" the letters of DNA code within the ATM gene. The DNA sequence of any gene is like the ingredients in a recipe. In DNA sequencing, the lab "reads" the sequence to look for typos.

Mutation Scanning
This looks at one letter at a time in the DNA code. Some labs take a shortcut by breaking the gene into pieces and testing each piece for changes. If it looks like a particular piece of the gene carries a change, the lab will examine that piece to find where the change is located. This saves money by not examining the pieces that look normal. The trade-off is that mutation scanning is more likely to miss a change in the gene as compared to sequencing.

Linkage Analysis
Linkage analysis tracks a change in the ATM gene within a family. The test is generally used to detect carriers or for prenatal testing. Typically, you would have linkage analysis done only after someone in your family has been diagnosed with A-T.

The test looks at four representative pieces ("markers") of DNA, two within the ATM gene and two bordering the gene on each side. A lab uses these markers to "find" a change in the gene. For example, imagine a family with one member affected with A-T. While DNA sequencing did not detect a change in the ATM gene, the affected person inherited DNA marker 1. (Family members who do not have A-T have inherited DNA marker 2.) A-T and DNA marker 1 are considered linked because they always go together. Therefore, when testing other members in the same family, the lab will assume a person has a change in the ATM gene if they inherit marker 1 (which is always linked to A-T) and not marker 2 (which is not linked to A-T).

What do the tests cost?
DNA sequencing costs about $4,000. Mutation scanning costs about $1,000. If more than one family member is being tested, the lab will usually charge the full price for the first person and significantly less for each additional person. The cost is highest for the first person because the lab must look at the whole gene. Once the lab finds the changes in the gene for that person, the lab can then look specifically for just those changes in other family members, usually for a cost of about $250 per additional person.

Does insurance pay for the tests?
Most health-insurance companies pay 80% or more of the cost. Some companies pay all the cost; others won't pay any portion. If you are considering this test, call your insurance company and ask about its coverage.

How long does it take to get results?
The sequencing test takes about two to three months; if the lab has already tested someone in your family the results will arrive sooner. Mutation scanning takes up to four months. The lab sends results to the medical center that ordered the test. You will need to return to the center to learn your results.

Can a health-insurance company raise my rates or drop me from coverage if I test positive?
Not usually, though this may depend on whether or not you have group insurance or are self-employed. People with group insurance are usually covered by both federal and state laws, while people who are self-employed are covered only by state laws. Also, the Federal Health Insurance Portability and Accountability Act (HIPAA) of 1996 prohibits health-insurance discrimination based on any "health-status-related factor" (including genetic information) by group health plans. Unfortunately, this act does not apply to the self-employed.

Some states have enacted legislation to cover the gaps. Thirty-four states prohibit health-insurance companies from using genetic information to deny coverage. Other states require specific justification for the use of genetic information in denying a claim. Texas bans the use of genetic information by any group health plans, and Alabama prohibits discrimination based upon predisposition to cancer.

These laws generally do not cover life insurance, long-term care and disability insurance. People with life and disability coverage provided by their employers are unlikely to have this insurance affected by a genetic test result.

Down Syndrome Genetic Testing Basics - Medicine and Health

Down Syndrome

What is Down syndrome?
Down syndrome, a disorder that is present at birth, affects the body's physical and mental development. While no two people with Down syndrome are exactly alike, they do share some common physical features. Babies with Down syndrome have similar facial features, tend to have lower muscle tone, and typically learn to walk and talk slightly later than other children. A person with Down syndrome typically has a slightly small head that is flattened in the back; up-slanted eyes; extra skin folds at the inner corners of the eyes; small ears, nose and mouth; short stature; small hands and feet; and some degree of mental disability.

Normally, a child inherits two copies of chromosome 21 — one from each parent. If a child inherits an extra chromosome 21, the child will have Down syndrome. Because Down syndrome usually affects every cell in the body, people can have a variety of medical problems. For example, about 40% of children with Down syndrome are born with a heart problem. This can range from a very small hole between two heart chambers to a very large hole that requires surgery.

Related Reading
Down Syndrome

How common is Down syndrome?
It occurs in about one of every 800 births. Between 3,000 and 5,000 children with Down syndrome are born each year in the United States.

Who is at risk of having a baby with Down syndrome?
Down syndrome can affect people from any ethnic group. A couple's likelihood of having a baby with Down syndrome increases as the woman gets older. For example, when a woman is 35, Down's occurs in about one of every 200 births. By age 40, Down's occurs in almost one in 100 births. Researchers think older eggs (a woman carries all of her eggs from birth) may have problems sorting out the correct number of chromosomes.

In addition, people have an increased risk if they carry a translocation involving chromosome 21.

Is there a cure?
No, but the medical complications associated with Downs can be treated and managed. Treatment for Down syndrome is specific to an individual's needs. For example, a child or adult may need heart surgery to correct a heart defect. In addition, someone with Downs might need occupational therapy, physical therapy and speech therapy.

The Genes For Down Syndrome

A typical person with Down syndrome has an extra copy of every gene on chromosome 21. This can happen for two reasons:

Unequal Cell Division
An egg begins as a pre-egg cell that has two copies of each chromosome. A pre-egg cell divides into two eggs. Before it divides, the chromosomes are sorted out so that one copy of each chromosome will go into each of the two eggs. When unequal cell division occurs, one egg gets two copies of chromosome 21, and the other egg gets none. When the egg with two copies of chromosome 21 combines with a sperm (which carries one copy of chromosome 21), the baby inherits three copies of the chromosome.

Unequal cell divisions are more likely to occur as a woman ages. (About 10% of the time, the extra chromosome comes from the sperm. This is also due to unequal cell division, but is not clearly related to a man's age.)

Chromosome 21 Translocation
A translocation is a type of chromosomal rearrangement. In one of the parents, for example, one of the two copies of chromosome 21 could break off and combine with another chromosome. All the chromosomes are still present, but in a different order. This parent would have no symptoms of Down syndrome but would be a carrier. The parent could then pass on the remaining, normal chromosome 21 plus the translocated copy, and the other parent would contribute a normal chromosome 21, resulting in a total of three copies of chromosome 21 in the embryo. Therefore, a baby could inherit a regular chromosome 21 from each parent in addition to this rearranged chromosome, resulting in a total of three copies of chromosome 21.

Translocations are not as common, but they increase the risk of having another baby with Down syndrome in a future pregnancy. For that reason, if a baby has Down syndrome caused by a translocation, the parents should have their chromosomes tested.

Should You Be Tested?

Should you have a test for Down syndrome?
Anyone can have a baby with Down syndrome. You might like to know, during the pregnancy, if your baby has Down syndrome. There are two categories of tests:

Screening tests try to identify babies that might have Down syndrome, but these tests cannot tell for sure, they can only tell if your baby is at increased risk of Down syndrome. Screening tests include:

Second trimester (serum) screening (sometimes called a “triple screen” or a “quad screen”) to check for certain substances in the mother's blood
First trimester screening (early ultrasound and serum screening)
Second trimester ultrasound



Diagnostic tests are for women who will be over age 35 at delivery, who received an abnormal result on a screening test, or who are anxious due to a prior pregnancy. Diagnostic tests require a sample of cells from the fetus. Tests include:

Chorionic villus sampling, usually performed between 10 and 12 weeks, involves taking a sample of chorionic villus cells from part of the placenta that contains fetal cells.
Amniocentesis, usually performed after 15 weeks, requires the removal of fetal cells from the amniotic fluid that surrounds the baby.

In both cases, the cells are sent to a lab for analysis.

If you have had a child born with Down syndrome, it is important to have your child's chromosomes checked before starting another pregnancy. If you carry a translocation, you have a higher risk of having another child with Down syndrome.

Be sure to talk with your obstetrician or a genetic counselor about your options.

Understanding Test Results and Options

How Do You Make Sense Of The Results?

If my serum screen test or my ultrasound screening test shows an increased risk for Down syndrome, what does that mean for my pregnancy?
It does not mean that your baby will definitely have Down syndrome. You can only confirm whether your child has Down syndrome by receiving one of the diagnostic tests. Talk to your obstetrician or a genetic counselor. They can help you decide whether to pursue a diagnostic test.

Does anyone ever get a positive screening test result and then not have a baby with Down syndrome (a false positive)?
Yes. The serum screen test only indicates that your child will have an increased risk of having Down syndrome. The test produces false positives in 3% to 7% of cases. The early ultrasound can also show false positives. The later ultrasound may frequently show some of the Down syndrome markers in babies without the extra chromosome. Of the three screening tests, the later ultrasound has the highest chance for a false positive.

Does anyone ever get a negative screening test and then have a baby with Down syndrome (a false negative)?
Screening tests are never perfect. The second trimester serum screen and first trimester screening test (early ultrasound with serum screen) detects Down syndrome accurately about 60% to 80% of the time. But if you would like to know for sure, you need a diagnostic test.

Does anyone ever get a positive chromosome analysis and then not have a baby with Down syndrome (a false positive)?
If a baby has an extra chromosome 21 as a fetus, the baby will have Down syndrome.

Rarely, chorionic villus sampling will show an extra chromosome 21 for a baby that does not have Down syndrome. This is a phenomenon called "confined placental mosaicism." Mosaicism means not all the cells of the baby and placenta are the same. The way to figure out if this happened is to have an amniocentesis or periumbilical blood sampling after the chorionic villus sampling to make sure that the cells being tested came from the baby. If the amniocentesis also shows the extra chromosome 21, then your baby will have Down syndrome.

An amniocentesis can verify the results. If the amniocentesis also shows the extra chromosome 21, then your baby will have Down syndrome.

Does anyone ever get a negative chromosome analysis and then have a baby with Down syndrome (a false negative)?
Chromosome analysis detects Down syndrome in more than 99% of cases. While rare, a false negative is possible because a baby can have an extra copy of chromosome 21 in only some cells. That baby would have normal cells and Down syndrome cells. If the chromosome analysis only looks at the normal cells, you could get a false negative.

My doctor said the ultrasound test showed the baby might have Down syndrome. What does that mean?
The ultrasound may show that your child has some of the physical features typical of babies with Down syndrome. Yet, many babies without the disease may have these features. If the ultrasound detects physical features related to Down syndrome in your child, talk to your physician about getting chromosome analysis to confirm the diagnosis.

Personal Questions

My screening test indicates my baby might have Down syndrome. Why should I get an amniocentesis if I'm going to continue the pregnancy no matter what?
A screening test (such as the serum screen or ultrasound) only indicates the increased risk your child has for Down syndrome. If you want to know for sure, you need to receive a diagnostic test (such as amniocentesis). Some couples get tested to lessen their anxiety throughout the rest of the pregnancy. Some couples get tested to help them prepare for the potential birth of a child with Down syndrome. Preparation may include seeking the most suitable hospital for a safe delivery and emotional support.

If I have the Down syndrome translocation, can I have children who don't have Down syndrome?
Yes, depending on which type of translocation you have. One type of translocation makes it so a person can only have children with Down syndrome. With the more common type of translocation, it is possible to have children who do not have Down syndrome. Your risk of having a child with Down syndrome, however, is higher than it is for other people. Further, your children who do not have Down syndrome will fall into two categories — those who carry your same translocation and those who do not. This becomes important if your child decides to start a family.

It is unlikely that both a mother and father would both carry a chromosome 21 translocation. But, if they did, they would have a much higher risk of having a child with Down syndrome.

If I DON'T have the Down syndrome translocation, can I have children who have Down syndrome?
Anyone can have a baby with Down syndrome. If you have a translocation, then your risk is much higher than other people. If you do not have a translocation, then the risk you have, as a couple, depends on the age of the mother.

Is there any harm in finding out if I carry the translocation?
Carrying the translocation for Down syndrome has no known health implications.

If one of my family members has a child with Down syndrome, does that increase my risk?
It depends. If the child does not have a translocation, then your risk is more related to your age at the time of delivery. Consider the example that your sister has a child with Down syndrome. If your sister's child did not have a translocation, then your risk of having a baby with Down syndrome is only related to your age. If your sister's child has Down syndrome caused by a translocation, then you might also carry that translocation. You would need to have your chromosomes examined to know for sure.

Test Details

How do the tests work?
To discover whether your unborn child has inherited Down syndrome, you and your partner can seek prenatal testing. There are two types of tests — screening tests, which identify a fetus that might have Down syndrome, and diagnostic tests, which tell you if the fetus actually does have Down syndrome.

Screening Tests

Second trimester serum screening. This blood test checks the levels of three or four chemicals in the mother's blood during pregnancy weeks 16 to 18. The chemicals are: maternal serum human chorionic gonadotropin (MS-HCG), unconjugated estriol (uE3-estriol), maternal serum alpha-fetoprotein (MS-AFP) and inhibin A (some labs do not test inhibin A). An increase in MS-HCG and inhibin A along with a decrease in the other two markers indicates an increased risk of Down syndrome. The American College of Obstetrics and Gynecology recommends that women under age 35 receive the serum screen test for Down syndrome during their pregnancy.
First trimester screening. This test combines an early ultrasound to measure the thickness of skin at the back of the baby's neck in addition to measuring two markers in the mother’s blood: the free beta subunit of human chorionic gonadotropin ( free beta-hCG), and pregnancy-associated plasma protein-A (PAPP-A). Although this screening test is newer than the second trimester serum screen, it appears to be as effective. A woman can receive an early ultrasound between weeks 11 and 14. Note: because the test requires special ultrasound training, it is not available in all hospitals.
Later ultrasound. This test, routinely performed on all pregnancies at 16 to 20 weeks, involves a detailed survey of the fetal anatomy. This ultrasound is not done specifically to look for Down syndrome, but it may detect features associated with the disorder.

Diagnostic Tests

Chorionic villus sampling. This test collects a small sample of cells from the placenta at the base of the umbilical cord. This is done using a thin needle and ultrasound guidance.
Amniocentesis. This test takes a sample of fluid from around the fetus (without touching the fetus). This fluid contains fetal skin cells.

Both diagnostic tests produce cells containing the fetal chromosomes. These are examined for abnormalities in a lab.

What are the costs of the tests?
The serum screen tests cost about $300 to $400 and the chromosome analysis costs about $1000. Costs for chorionic villus sampling, amniocentesis and ultrasounds vary depending upon the physician and the hospital.

Does insurance pay for the test?
Most health insurance companies pay 80% or more of the cost of these tests. Some plans pay all of the cost, while others won't pay any portion. If you are considering any of these tests, call your insurance company and ask about its coverage.

How long does it take to get results?
Serum screen results take a few days. Ultrasound results are shared on the same day. Chorionic villus sampling and amniocentesis take about two weeks. (Results of these two tests are reported to the medical center that ordered the test. You would then return to the center for another appointment to discuss the results.)

Can a health insurance company raise my rates or drop me from coverage if I have a baby with Down syndrome?
Not usually, although this may depend on whether or not you have group insurance or are self-employed. The Federal Health Insurance Portability and Accountability Act (HIPAA) of 1996 prohibits health insurance discrimination based on any "health status-related factor," (including genetic information) by group health plans. People with group insurance are usually covered by HIPAA, while people who are self-employed are only covered by state laws.

Some states have enacted legislation to cover the gaps. Thirty-four states prohibit health insurance companies from using genetic information to deny coverage. Other states require specific justification for the use of genetic information in denying a claim.

Duchenne Muscular Dystrophy Genetic Testing Basics - Medicine and Health

Duchenne Muscular Dystrophy

What is Duchenne muscular dystrophy?
Muscular dystrophy refers to a group of disorders characterized by muscle weakness. In Duchenne dystrophy, a defective gene causes muscles to produce abnormally low levels of a protein called dystrophin. When dystrophin levels are low, the membranes around muscle cells become weak and tear easily, eventually leading to the death of muscle fibers.

Duchenne muscular dystrophy is the most common form affecting children, mostly boys. Symptoms usually begin during the toddler years (around ages 2 to 6). The muscle weakness affects many muscles, including those in the trunk and hips. The trunk muscles can become so weak that the spine curves, creating a condition known as scoliosis. Weakness also affects muscles of the arms and legs, the heart muscle and the diaphragm muscle. Children with Duchenne muscular dystrophy will need a wheelchair by the time they are teen-agers. Weakness of the heart muscle, called cardiomyopathy, occurs by age 18 in 100 percent of people with Duchenne muscular dystrophy. Life expectancy depends on how quickly and intensely the disease progresses and on how it affects the ability to breathe. The average lifespan is less than 30 years.

Related Reading
Muscular Dystrophy

How common is Duchenne muscular dystrophy?
About one out of every 3,000 boys is born with the mutation for Duchenne muscular dystrophy. In one-third of cases, a child inherits the gene from his mother. A new mutation in the child accounts for the other two-thirds of cases.

Who is at risk for Duchenne muscular dystrophy?
Every couple has a potential risk of having a boy with Duchenne. No particular group of people has higher rates of being carriers. Family history is the only determining factor.

Is there a cure?
There is no cure for muscular dystrophy, and there are no specifics or standards of treatment. The best treatments prolong survival and improve a person's quality of life. For example:

Physical therapy helps to prevent stiff muscles.
Monitoring for scoliosis allows for early treatment. (Untreated scoliosis can hamper breathing.)
Regular monitoring of the heart (with echocardiograms) allows early detection and treatment of cardiomyopathy.
Attention to diet helps to control the patient's weight.
A type of steroid may help improve muscle strength
The Gene For Duchenne Muscular Dystrophy

What does it mean to have an altered gene for Duchenne?


The gene involved in Duchenne muscular dystrophy tells the body how to make a protein called dystrophin. This protein is important in maintaining healthy muscle cells. Seventy percent of Duchenne muscular dystrophy cases have a large part of the gene missing, which means the muscle cells are unable to make dystrophin. The muscle fibers die, causing the entire muscle to become weak and ineffective.

The Duchenne muscular dystrophy gene is located on the X chromosome. Every male child inherits an X chromosome from his mother and a Y chromosome from his father. Female children get two X chromosomes, one from each parent. If there's a change in an X-chromosome gene, the female has a second X chromosome that almost always carries a normal version of the gene. Males, on the other hand, do not have a second X chromosome. As a result, girls almost never get Duchenne. If a boy has a changed gene, he will automatically get the disease.

Should You Be Tested?

Should you or your future child be tested for Duchenne?
That depends on whether you are a likely to be a carrier of the disease. Your chances of being a Duchenne muscular dystrophy carrier partly depend on your family history. If you are the mother of a boy with this disease and you have another family member with the disease, such as a brother or a nephew, you must be a carrier. If you are the mother of a boy with the disease, but nobody else in your family has it, you still may be a carrier. (About two-thirds of mothers in this situation turn out to be carriers due to the high rate of new mutations.) The only way to learn if you are a carrier is by getting a DNA test. If you are a carrier, you also should have an echocardiogram to look for cardiomyopathy.

Should your child be tested for Duchenne if symptoms exist?
Symptoms of Duchenne muscular dystrophy usually start during the toddler years (ages 2 to 6). An affected child usually will start walking later than expected, have difficulty walking up stairs, walk with flat feet or on the toes. There are different kinds of tests to look for Duchenne. All people with Duchenne muscular dystrophy have high levels of a muscle enzyme called creatine kinase. Therefore, if your child has symptoms of the disease, the first step is the creatine kinase test, as well as some other types of blood tests. DNA testing can be used to confirm a diagnosis in a child who has symptoms.

Understanding Test Results and Options

How Do You Make Sense Of The Results?

If I test positive as a carrier, what does that mean for my family and me?
A DNA test can confirm that you are a carrier for Duchenne muscular dystrophy. If you are a carrier, you will not have the disease. However, you may have some of the symptoms. The most common symptoms among carriers are muscle weakness and muscle pain or cramping. Note: Cardiomyopathy can affect all Duchenne carriers, so it is important to get an echocardiogram even if you are not experiencing symptoms.

If a DNA change is identified in one family member, then other family members can be tested for the same change. In other words, if you are a carrier and your mother was a carrier, each of your sisters has a 50-percent chance of having inherited the gene. Your sisters may want to be tested before they start families.

If my child tests positive, what does that mean for my family and me?
If your child has symptoms of Duchenne muscular dystrophy, and his creatine kinase is high, your doctor should get a DNA test to confirm the diagnosis. If the child has a Duchenne muscular dystrophy gene, the mother should be tested to see if she is a carrier.

Does anyone ever get a positive test result, but not get the disease (a "false" positive)?
Changes to the Duchenne muscular dystrophy gene can cause two other types of muscular dystrophy. In Becker muscular dystrophy, symptoms start later and progress more slowly. The other type of muscular dystrophy is X-linked dilated cardiomyopathy, which is limited to the heart muscle.

Does anyone ever get a negative test result, but actually have a mutation in the gene (a "false" negative)?
Yes. About 30 percent of people with Duchenne muscular dystrophy will get a negative result with the standard test for deletions. Because the Duchenne muscular dystrophy gene is very large, it has been difficult to test every single part of the gene. A deletion test is done first because it is easier to do. If the deletion test is unsuccessful, your doctor may suggest a different DNA test to look for small changes in the gene. However, even the second DNA test sometimes fails to find any change. But after doing both types of DNA tests, a change will be found in about 90 percent of people with Duchenne muscular dystrophy. This makes the false-negative rate about 10 percent.

When DNA testing fails to detect the Duchenne muscular dystrophy gene in a boy with symptoms of the disease, a muscle biopsy can confirm the diagnosis. A very small piece of the thigh muscle is removed and examined for the presence of the dystrophin protein. A muscle biopsy used to be required to diagnose Duchenne muscular dystrophy, but due to the success of DNA testing, a biopsy is now required in only a minority of cases.

Personal Questions

If I have the Duchenne gene, can I have children who don't have it?
If you're a Duchenne muscular dystrophy carrier, you have a 50-percent chance of passing the gene on to each child you have. Boys who inherit the gene will develop Duchenne muscular dystrophy. All girls who inherit the gene will be carriers.

While I'm pregnant, can I determine the risk my baby has of developing Duchenne?
To discover whether your unborn child has inherited Duchenne muscular dystrophy, you and your partner can get prenatal testing. Prenatal DNA testing is only performed if someone in your family has the gene or is known to be a carrier. Early in the pregnancy, a doctor can use either chorionic villus sampling or amniocentesis to get a sample of tissue from the fetus. A lab then tests the tissue sample to determine if the fetus has inherited the disease.

If you are using in vitro fertilization, you may be able to have the embryo examined right after the egg and sperm are combined and before the resulting embryo is implanted in the womb.

Be sure to talk with your obstetrician or a genetic counselor about your options.

If I am a Duchenne carrier, could I give birth to a girl with the disease?
In rare cases, a girl can get Duchenne muscular dystrophy. However, this only occurs in conjunction with some other problem in the inheritance of the X chromosomes. So, a muscular dystrophy specialist should evaluate any girl with symptoms of Duchenne muscular dystrophy.

If I DON'T have the Duchenne gene, can I have children who DO have the gene?
If you're not a carrier, then your children cannot inherit the gene from you. But there is a relatively high occurrence of new changes in the Duchenne gene. Because of this, there is no guarantee that you won't have a child with Duchenne muscular dystrophy.

Is there any harm in finding out if I carry the gene?
Carrying the gene can cause medical problems for some women. The most significant problem for women who carry a Duchenne muscular dystrophy mutation is dilated cardiomyopathy. A standard echocardiogram can detect this complication. Early detection helps to prevent later complications.

Test Details

How does the test work?
There are two types of DNA tests for Duchenne muscular dystrophy:

Deletion testing looks for large deletions and duplications in the gene. This test reveals the disorder in about 70 percent of patients with Duchenne muscular dystrophy.
Point-mutation testing detects smaller changes than the ones found by the deletion test, such as small insertions, deletions and point mutations.
Some patients with symptoms of Duchenne have a normal point-mutation test. A muscle biopsy will clarify the diagnosis in patients with symptoms, but who have received a normal DNA test. Muscle biopsy also helps when the symptoms are not classical but some type of change is found. The muscle is examined under a microscope and a special stain is used to detect dystrophin protein.

What is the cost of the test?
Cost varies slightly depending upon which lab is doing the testing. The DNA deletion test costs about $500. The DNA point-mutation test costs about $1,100. The special stain for dystrophin in the muscle biopsy costs about $800.

Does insurance pay for the test?
Most health-insurance companies will pay 80 percent or more of the cost of the test. Some companies pay all of the cost; others won't pay any portion. If you are considering this test, call your insurance company and ask about its coverage.

How long does it take to get results?
Once you have blood drawn for the deletion test, you will receive the results in three to four weeks. Results for the point-mutation test take 12 to 18 weeks. Staining for dystrophin protein in the muscle biopsy takes 1 to 2 weeks. The test results will not be reported directly to you. Instead, the laboratory provides the results to the medical center that ordered the test. You would then return to the center for another appointment to discuss the results.

Can a health-insurance company raise my rates or drop me from coverage if I test positive?
Not usually, although this may depend on whether or not you have group insurance or are self-employed. The Federal Health Insurance Portability and Accountability Act (HIPAA) of 1996 prohibits health-insurance discrimination based on any "health status-related factor," (including genetic information) by group health plans. People with group insurance are usually covered by HIPAA, while people who are self-employed are covered only by state laws.