Monthly Archives: March 2013

Apnea Alternatives Clear The Airways

If you’re not getting enough sleep at night, you’ll be tired during the day. However, you may think you’re getting a good night’s sleep even though you’re not. You might have sleep apnea, meaning that while you’re asleep, your breathing gets shallow, or even stops altogether. When that happens, you wake up briefly from time to time to get your breathing started again, but you’re not usually awake enough for long enough to fully register that you’re doing it. This means your sleep is fragmented and poor, and you’re still tired in the morning and may not realize why.

An estimated 40 million people in the U.S. have sleep apnea but more than three in four of them are undiagnosed. You may have sleep apnea if you go through the day tired regardless of how early you went to bed the night before. Another symptom is loud, heavy snoring. People with sleep apnea often also have high blood pressure, heart problems, and stroke, and often experience depression and sexual dysfunction

Sometimes sleep apnea requires surgery, but that is rare and only when the condition is otherwise intractable. Mild cases may not require any medical intervention at all. Lifestyle changes such as losing weight and quitting smoking can make a big difference all on their own, and may be enough to solve the problem. If those don’t work, the standard treatment is a type of pressurized-air mask called a continuous positive airway pressure machine. This keeps air going through your airways, keeping you breathing throughout the night.

However, CPAP doesn’t work for all patients, and some find the machines so cumbersome and uncomfortable as to themselves interfere with sleep. For these people, doctors recommend orthotic inserts to treat apnea. To build and fit an orthotic, a specialist called a neuromuscular dentist first measures your jaw. These measurements are then used to construct an insert that looks a bit like a mouth guard. Worn at night, it holds the lower jaw in a position that keeps the airway open. This reduces apnea episodes in patients with mild to moderate apnea and reduces snoring, leading to a more restful sleep.


More than six million North American women suffer severe pelvic pain due to endometriosis. This condition occurs when parts of the uterine lining grows outside the uterus. Ordinarily, the lining, or endometrium, thickens during ovulation and then thins again, with the excess tissue being part of menses. However, in endometriosis, this tissue, not being in the uterus, has nowhere to go and build up. This causes pain, scarring, and sometimes adhesions connecting organs that are normally separate, and can threaten fertility.

In some cases, the pain occurs during menstruation, or mid-cycle, or both; for other patients, however, there is no detectible pattern. People with endometriosis may also experience pain during bowel movements, urination, or intercourse. The severity of the pain and the severity of the condition are not directly connected. Other symptoms include heavy periods, bleeding between periods, constipation, diarrhea, or bloating. Endometriosis tends to run in families, but it is not a congenital condition. It generally does not develop in people who have given birth. Women with short cycles are at risk.

What appears to cause endometriosis is what is called retrograde menstruation, in which some menstrual blood, with uterine cells in, goes the wrong way into the stomach or fallopian tubes, depositing bits of endometrium there. Endometrial cells outside the uterus are supposed to be taken care of by the immune system, but for unclear reasons, this doesn’t always happen.

People experiencing symptoms need to be tested to confirm that endometriosis is the cause. A pelvic exam or a vaginal ultrasound can find signs of the condition, though a laparoscopy, in which a small camera is inserted directly into the abdomen through a tiny incision, is the only way to be sure. If uterine lining cells are found where they don’t belong, treatment is generally focused on managing the condition with pain medications or hormone treatments. If the disease is causing fertility problems, surgery may be needed to remove the endometrial implants. Conversely, if the uterus is severely damaged, hysterectomy may be the only option.

Odd Odor With Serious Consequences

Approximately one in 180 thousand Americans exudes a strange, though seldom unpleasant, smell. A genetic abnormality causing an inability to properly process the amino acids leucine, isoleucine, and valine imparts to these patients’ urine and sometimes earwax the scent of maple syrup. These proteins, called branched-chain amino acids, combine with urea to form a compound called sotolone, which is typically found in maple syrup and burnt sugar.

The condition is called maple syrup urine disease because of this unusual symptom, but despite the frivolousness of the name, the other symptoms can be quite serious. Patients with MSUD experience seizures and lethargy, and can become comatose. Children and adults suffering from the condition avoid food, and infants have difficulties feeding. However, undereating is one of the types of stress that can exacerbate the seizures or cause neurological damage in affected people. In fact, even a simple infection can cause this damage.

In some states, MSUD tests are part of mandatory infant screenings. Even when testing isn’t done automatically—or because the parents are carriers—symptoms of the most severe type of MSUD can appear as little as three days after birth. Infants who are fussy, are lethargic don’t feed readily or gain weight, have poor muscle tone, or have any of the usual symptoms of the disease are generally tested for MSUD. Children with milder forms of the condition may not show symptoms until later, sometimes into toddlerhood, but the characteristic urine smell is always an indication of the need for testing.

There is no cure for the condition, and treatment involves a restricted diet. The proteins involved are what are called essential amino acids, meaning they aren’t produced in the body, and so a diet low in proteins, and particularly branched-chain amino acids, is sufficient to prevent the build-up of these substances in the body. However, these dietary restrictions must be maintained for life, and a careful balance must be maintained between enough branched-chain amino acids for normal development without risking a flare of MSUD. In rare cases the vitamin thiamine can boost enzyme activity to allow a less restricted diet.

Diabetes Detection And Intervention

Left untreated, type 2 diabetes can cause serious complications, such as heart disease, blindness, and conditions requiring lower-limb amputations. Unfortunately, it is estimated that nearly a fourth of diabetes cases in the United States are not merely untreated, but unrecognized. Around 7 million people who have diabetes have never been diagnosed; it can take as many as ten years for a proper diagnosis to be made. An additional 79 million people have prediabetic conditions, not all of whom are adequately managing the risk.

That’s why today is Diabetes Alert Day, when people are urged to look for the signs of type 2 diabetes and get themselves tested. While everyone needs to be aware of the risks, testing is particularly important for people with a family history of type 2 diabetes and for African Americans, Latinos, Native Americans, Asian Americans, and Pacific Islanders. Regardless of your inherent risk, you put yourself at greater risk by leading an inactive, sedentary lifestyle or by being overweight. In fact, studies have shown that you can delay or prevent diabetes by eating healthy and getting regular exercise to reduce your body weight by just seven percent, such as going from 200 pounds to 185.

Testing for type 2 diabetes starts with a risk assessment—even people who seem to have no risk factors might benefit from a lifestyle screening that may uncover things they can change to prevent diabetes. If it is advisable, there are several types of blood tests that can be used to find signs of diabetes or of the typically asymptomatic high glucose levels that are often precursors to diabetes.

It is particularly important to get tested if you are exhibiting symptoms of diabetes. The symptoms are often subtle and may seem harmless. Get tested if you experience excessive thirst and frequent urination, unexplained weight loss and extreme hunger, fatigue and irritability, or blurred vision. Early detection and treatment are how you can decrease your chances of developing diabetes.

Obesity, Multiple Sclerosis Linked

A recent study found that the one in six adolescent girls who are overweight are at increased risk for multiple sclerosis. Multiple sclerosis in obese teenage girls is also more dangerous, and the girls have a higher risk of a multiple sclerosis precursor called clinically isolated syndrome, in which the deterioration of myelin characteristic of MS causes one or more neurological effects for a period of 24 hours.

The researchers looked at the body mass index data for MS patients who were diagnosed under 18 and compared that with data for healthy children. They used these figures to sort the subjects into weight categories: normal weight, overweight, moderately obese, and extremely obese. More than half the children with the condition were overweight or obese, while only slightly over a third of those without it were, but the effect was only seen in girls. Extremely obese girls had four times the risk of MS as normal weight girls.

Researchers speculate that obesity, which is often associated with slight inflammation, may contribute to myelin deterioration. Multiple sclerosis is an autoimmune disease in which the immune system attacks the protein myelin that covers the nerves. Menstrual hormones also contribute to inflammation, and female bodies generally show the effects of obesity earlier than male. These factors may account for only girls showing the association; MS in general occurs more frequently in women than in men. Obesity, though a risk factor for a number of conditions, had not previously been considered in connection with MS.

There is some evidence of a genetic predisposition to MS, but the illness still only occurs in the presence of certain triggering factors, of which obesity may be one. Established risk factors, aside from being female, include infections such as the Epstein-Barr virus, other autoimmune diseases such as type 1 diabetes and thyroid disease, and living far from the equator before puberty—it’s not clear why the geographical factor has an effect, nor why it’s only in childhood, but it supports the “hygiene hypothesis” often cited as a possible explanation of autoimmune diseases.

Vaccines for Tuberculosis

Often associated with the 19th century, tuberculosis cases are on the increase in the 21st. One reason for this is that TB is a disease of poverty. Money can’t buy health, but the conditions most hospitable to the disease and the virus that causes it—such as lack of access to adequate medical care and crowded and unsanitary living conditions—are far easier to avoid with money, and far more common among the growing ranks of the global poor. Anther thing TB is a disease of is AIDS; in the developed world many TB patients are HIV-positive, and the viruses have a relationship that is mutually beneficial to them, but deadly to their host.

The good news is that newer and better tuberculosis vaccines are being developed as part of the effort, celebrated on World TB Day this coming Sunday, to eradicate tuberculosis in our generation. Research is being conducted all the time, and earlier this year scientists found a substance that dramatically improves the effectiveness of some types of vaccines in preventing the spread of tuberculosis. Unfortunately, the vaccine still has limited usefulness in adults, Moreover, vaccination and prevention are only part of the solution. Tuberculosis responds readily to treatment—though increasing drug resistance means it’s heartier than in times past—but too often, treatment isn’t available, or poor diagnostics mean it isn’t administered during the window when it can do the most good.

Tuberculosis is a global health threat, and it is a highly communicable disease that may influence practically anyone and everyone, said Javed Agrewala in a statement. “There is a serious need and challenge for the scientific community to develop alternative vaccination approaches for the control of the disease.” A researcher at the CSIR-Institute of Microbial Technology in Chandigarh, India, Agrewala advocated last summer for investigation of a wider variety of vaccines.

In particular, he called for wider use of a synthetic vaccine, created in a lab, that does not contain any infectious material. In the areas where TB is most common, parasitic infections are likewise common, and interfere with the resistance inoculation with viruses is intended to develop, but synthetics overcome this difficulty.

Gaucher Disease And Stem Cells

People with the rare genetic condition called Gaucher’s disease have an accumulation of a kind of lipid called a glucocerebroside. These substances gather in the liver, spleen, lungs, bone marrow, and, in severe cases, even the brain, progressively interfering with normal functioning. Patients with Gaucher’s disease have skeletal abnormalities, enlargement of the liver or spleen, and anemia. The most common and mildest from has no other symptoms and is most common in adults. The rarest and most severe kind involves the brain, and there the fatty deposits cause dementia, seizures, and cognitive deficits. This type begins in infancy, and patients generally do not live past two or three years old. The third type also causes mental disability, but begins later, in adolescence.

Collectively, the types of Gaucher’s disease affect about one in 50,000 people. These people inherit a genetic abnormality that means their bodies do not manufacture an enzyme that breaks down glucocerebrosides and prevents them from accumulating. The substance itself is produced by the body and is important skin function. Normally, the enzyme is used to dissolve the glucocerebroside once it has served its purpose, but when the enzyme is absent, the glucocerebroside remains in the body. The disease is recessive, meaning it only strikes people who have inherited the defective gene from each parent; about one in 100 people is an asymptomatic carrier with one copy of the gene.

The mildest forms of the disease doesn’t always require treatment. One treatment that is used is enzyme replacement therapy. This breaks down the lipids accumulated in the body, thus reducing organ enlargement and repairing the bones. However, it does do as much to alleviate the neurological effects of the third type of Gaucher’s disease. In severe cases, a bone marrow transplant can provide relief, but this is a high-risk procedure and is rare.

Recently, stem cell research has been used to explore the causes of, and possible new treatments for, Gaucher’s disease. Stem cell models are used for all three types of the disease, allowing for the creation in the lab of cells that mimic the behavior of cells in Gaucher patients and allowing new therapies to be tested. In particular, medical researchers are looking into ways to make the bodies of people born with the deficiency function normally. This holds out hope for treating even the most severe form of the disease.

New, Deadly Virus Being Studied

The common cold is caused by a type of virus called a coronavirus. As you might expect, it’s everywhere. However, while some types can be harmless, others are not. Another type of coronavirus was blamed for the deadly SARS outbreak ten years ago. Now the World Health Organization is warning of a new deadly strain that originated in the Middle East but is now being found in patients in Europe. More than half of all known infections involving this particular strain have been fatal.

According to reports, the strain was first identified in a 60-year-old patient in Jeddah, Saudi Arabia in June. Tests at a laboratory in Rotterdam in the Netherlands confirmed that it was a new type of coronavirus in September. The new strain, coronavirus 2c EMC/2012 or “Saudi SARS,” has affected more than a dozen people and may yet sicken still more.

The good news is that, unlike SARS—and the common cold—person-to-person transmission is reportedly rare and difficult. It does spread between individuals; the first British patient, a man living in Manchester who had traveled to Pakistan and the Middle East and who died of the infection on February 19th, apparently passed it to his son. However, this is the only known case of contagion, and it does not appear poised to spread rapidly through contact.

However, because the virus is so new, and there are so few patients, precisely how it is spread is not clear. What researchers have found is that the strain is genetically similar to viruses found in bats, though that may not be the method of transmission. Scientists have figured out how the virus, once acquired, makes its way into cells to cause the respiratory symptoms and renal failure characteristic of the infection.

In particular, while it does not appear to involve the same pathway SARS was found to use in 2003, the new virus uses a newly discovered protein called dipeptidyl peptidase 4, or DPP4. This protein is very similar in humans and bats, as well as pigs, monkeys, and other wild and domesticated mammals. This discovery is an important step on the road to a treatment or a vaccine; it suggests that attacking it at the protein site could prove effective.

Beals Syndrome

Tall, slender people with long limbs are sometimes suffering from a genetic condition called Beals syndrome. The mutations that cause the condition, in a gene called FBN2, affect a protein called fibrillin-2 which is used to build musculature. This results in elongated and permanently flexed fingers and toes, crumpled-looking or creased ears, scoliosis, underdeveloped muscles, and a protruding chest. In many cases, patients also have heart problems. Clubfoot is also common with Beals syndrome. The effects on the fingers and toes are reflected in another name for the condition, congenital contractural arachnodactyly, meaning spider-like digits that don’t straighten all the way. Beals syndrome is very rare, effecting only about one in 10,000 people.

Beals syndrome is very easy to diagnose because patients only need to inherit the defective gene from one parent. That means there are no asymptomatic carriers—most people with Beals syndrome have at least one parent with Beals syndrome, in whom some of the symptoms will be visible. Sometimes it appears in families with no previous history of this condition.

In such cases, doctors do an investigation looking into how long the fingers have exhibited signs of the disorder, what other symptoms the patient has exhibited, if there’s anything else unusual, and if there’s any family history of early death or of hereditary ailments such as Marfan syndrome. Marfan is a musculoskeletal condition with similar symptoms to Beals, but involving a different muscle-related gene. Testing is also done, looking for reduced bone mass, poor muscle development, and heart abnormalities characteristic of the condition.

Treatment of Beals syndrome involves physical therapy and careful monitoring to make sure the heart is functioning correctly. Beals syndrome can in some patients cause the valve on the left side of the heart, called the mitral valve, to become damaged and deformed, and even to collapse. In addition, patients are sometimes given braces to help them with mobility and stability.

Eczema And Digestion

Although fast food probably doesn’t cause acne, it has been linked to eczema and other allergic reactions in kids, according to researchers. Studies looked at eating and sleeping patterns and eczema symptoms among six- and seven-year-olds and among teenagers. In both groups, fast-food consumption—more than three times a week—was associated with more severe symptoms. Scientists think saturated and trans fats in fast food may be to blame. Three or more servings of fresh fruit per week, the study found, had the opposite effect.

Another possibility is that fast food somehow affects the balance of intestinal flora. Intestinal flora are generally harmless bacteria that live in the gut and are involved in digestion. Imbalances in these bacteria, too much or too little of certain types, can cause various health problems. Infants with eczema were discovered in a recent study to have a greater diversity in these flora than those without, with adult levels of a certain subtypes of a kind of bacteria called clostridium.

What directly causes eczema, however, is still largely a mystery. It appears to be related to stress, but while that can be a trigger and can affect the severity, it does not appear to be a cause. The prevailing theory is that immune system malfunction combined with dry skin leads to the condition, and that there is a genetic basis for that malfunction. Eczema often, though not always, occurs alongside asthma or hey fever, and families in which one of those conditions is present almost always have members with the others as well. All told, more than 30 million Americans are estimated to have eczema, with two-thirds diagnosed before age one and 90 percent showing signs by the time they were five.

Treatment for eczema is usually topical, relying on creams and lotions applied directly to the skin. Particularly useful compounds include gamma linolenic acid, lactic acid, and ceramides, and products containing these are particularly recommended. Antihistamines and corticosteroids, taken internally, have also been used to provide some relief. New studies focusing on the nature and location of the immune system issues involved in eczema hold promise for developing more fundamental treatments in the future.