Monthly Archives: August 2014

Muscular Dystrophy Treatments May Be On The Horizon

Several possible new treatments for muscular dystrophy have been discovered in recent months, some rather surprising. For example a molecule in cola, when injected into laboratory animals with analogous conditions, alleviated the symptoms and arrested the progress of the degenerative disease. The substance, called THI, is found in caramelized sugar and brown sugar as well as cola; it boosts levels of a protein ordinarily responsible for muscle maintenance, which malfunctions in people with the form of muscular dystrophy referred to as Duchenne. THI was both injected into the experimental subjects and added to their drinking water—mimicking the way most humans who consume it do so.

Duchenne muscular dystrophy is only one form of the disease, but it is the most common, accounting for half of all cases. With muscular dystrophy, the muscles are not properly repaired after damage, even the wear and tear of ordinary life. In healthy people, muscles can be permanently weakened by severe injury, but more prosaic damage is repaired by cellular processes. In muscular dystrophy patients, these processes don’t work. This means the limbs slowly lose function, followed by the muscles responsible for respiration—most patients eventually need to rely on a ventilator to breathe.

There is no cure for muscular dystrophy currently available. There are medications to slow its progress, but these drugs cannot reverse the damage, or even stop it on a long-term basis, and so the focus is generally on management. Physical therapy can help maintain as much mobility as possible, and surgical treatments can minimize the effects of muscular contractures and curvature of the spine. In addition, a pacemaker may be used to maintain a regular heartbeat. One experimental treatment is looking at a slightly different approach to protecting the muscle-maintenance protein, by deactivating a quality control mechanism that destroys it in muscular dystrophy patients.

A third approach being studied looks at the genetics behind the disease. Muscular dystrophy is hereditary, with a complex inheritance pattern that means carriers of the mutations responsible may have no reason to be aware of it. Most Duchenne patients are male. Genetic editing techniques are being developed that may be able to fix the mutated genes early on, preventing proteins from being damaged and the disease from developing.


Lockjaw isn’t how rich people talk; it’s actually a name for tetanus, a disease resulting from a neurotoxin called tetanospasmin produced by bacteria that live primarily in soil and dust. The neurotoxin causes muscle contractions in the neck and jaw, which eventually makes breathing impossible. The bacterial spores are contracted through puncture wounds in environments with dirt or dust, particularly if other bacteria are present and the injury was caused by a foreign object, such as a splinter, that gets lodged in the body.

It is possible for tetanus to develop from a gunshot wound, particularly if the bullet doesn’t go all the way through. Tattoos and body piercing with unclean equipment are also linked with tetanus, which is one reason illegal tattoos can be dangerous. The bacteria thrives best in really deep cuts, but any wound should be cleaned thoroughly as soon as possible to reduce the chance of infection.

In addition to cleaning the wound, someone with a particularly high-risk injury—one that occurs outdoors, involves soil or manure, or occurs in a dirty or dusty environment, as well as animal or human bites—should get vaccinated against tetanus if they haven’t been within the preceding five years. Children are routinely vaccinated for tetanus—generally combined with the diphtheria and pertussis vaccines—but the protection conferred by the shot fades, and boosters are needed about every ten years. Even if someone has been vaccinated, post-exposure prophylaxis, a shot after an injury that could result in tetanus, should be given when necessary. The fight against tetanus is particularly skewed towards prevention as opposed to treatment; prevention is both easier and more effective than addressing the infection once it has already occurred.

Vaccination is generally effective: fewer than 50 cases of tetanus occur annually in the United States. This success is all the more remarkable considering that post-exposure shots can take up to two weeks to reach full effectiveness. In some cases, doctors are advised to give the patient immune cells to jumpstart the response to the infection. People who do get infected will get stiffening of the facial muscles, and then the stiffness extends downward. As many as three-fourths of patients with tetanus died in years past, but with vaccination available the rate has fallen below 15 percent.

Men And Infertility

When a couple spends more than a year trying to conceive without success, they can be diagnosed as infertile. Women over 35 can be diagnosed after six months, because fertility declines with age generally, and women at that age may not have the luxury of a year to try. However, only in about two-thirds of infertile couples does the problem lie with the woman, and only half of those is it with the woman exclusively. This is at odds with the common perception of infertility, which typically lays the issue at the feet of the female half of the couple. In spite of the vulnerability of sperm and sperm production to a host of medical issues and environmental factors—including celiac disease, diabetes, and even chemicals in some types of toothpaste—the clear and direct involvement of women in the reproductive process leads people to think of reproduction generally and problems interfering with it, primarily in terms of the role women play and the effects on women.

Unfortunately, this puts a great deal of stress on women, which can itself make conception more difficult. In a study, women who had increased levels of stress hormones had a harder time conceiving. Even subjects with no previous fertility problems were 29 percent less likely to be pregnant if they were found to have high levels of stress hormone levels rather than low levels. High-stress women were twice as likely to go a year without conceiving, the study found.

The focus on women means less attention paid to male infertility, which could harm the men suffering the problem and delay treatment of the underlying issue. Male infertility is linked to higher mortality, but it is also often responsive to relatively simple fixes that aren’t available to women. Research has found that men with two or more abnormalities in semen—including deficits in motility, odd shape, low semen volume, or low sperm count—have double the risk of death in the eight years following the initial evaluation for fertility issues. That suggests that men who aren’t being evaluated, who assume it is their female partners who have the problem, are unprepared for this higher risk. Moreover, they are unable to get treatment, which could be as simple as a synthetic version of the protein in sperm that primes the ovum for fertilization. This synthetic protein has not been used clinically but shows promise in research settings to help increase male fertility.

Intestinal Bacteria

There is a whole world inside the human digestive tract, a vast and diverse collection of approximately 500, though possibly as many as 1000, species of bacteria and other microbes, working in harmony with each other and with their human host to digest and metabolize food. These microbes are called "gut microflora," or, collectively, "gut microbiota". It is a mutually beneficial relationship; the bacteria colonizing the organs get a place to live, while that place&mash;the human&mash;gets a world of possibilities for digesting food that the intestines alone are incapable of, such as digesting certain types of complex carbohydrates.

Collectively, gut flora weigh around two pounds. The composition of the gut microbiota is heavily influenced by location and diet. Where someone lives and where they grew up plays a large role in what sort of microflora will live in their intestines, though about a third of the microbiota appears be the same, substantially, in all humans, regardless of where and how they live.

Diet also plays a role; the balance of carbohydrates, proteins, and other components of food will gradually determine the mix of types of microbes living in the gut. This means, among other things, that the claim occasionally heard from vegetarians that the human body is not equipped to digest meat very will is actually true&mash;but only for vegetarians, who shift toward a gut microbiota balance optimized for plants. This is also why it’s possible to change the makeup of gut microbiota with probiotic supplements, or with probiotic foods such as yogurt. These have the effect of introducing microbes into the gut that may not normally be found there; even if these microbes don’t take over, they will change the ratios of the main ones already present.

While gut microflora are harmless as long as they are where they belong, they can cause serious health problems if they are moved to a different part of the body, or if they grow beyond their usual territory. This can happen as a result of antibiotics, which can lead to overproduction of some types of microflora by killing off other kinds, or by physical damage to the lining of the intestines

Women And Medicine

Clinical trials are a vital part of the medical research process: they are used to determine how, and if, a medication being tested works for the illness it is purported to treat, what the side effects are, what else it might do, what the appropriate dose is&mash;enough to have an effect, not enough to be dangerous&mash;and how effective it is compared to existing treatments for the condition, if any. Every day, people are being recruited to participate in these trials to help advance the cause of science. Far too often, however, an important element is missing. Until relatively recently, with few exceptions, trials are conducted only on men unless the medication is for a condition that only or primarily strikes women.

There are several reasons for this. One is a fear, occasionally justified, that female subjects’ menstrual cycles will have an unrecorded impact on the results. Another, seemingly contradictory, reason is an assumption that men and women are pretty much the same, except for the plumbing; often, this translates in practical terms into an assumption that women are men with different plumbing. Despite a law passed over 20 years ago mandating that women be included in clinical trials funded by the National Institutes of Health, most medications are tested primarily on men, not generally out of a desire to exclude women&mash;either from the trial or from the medication’s benefits&mash;but out of a belief, which may not even be recognized consciously enough to be considered a conviction, that it simply does not matter.

Except it turns out that it does. Male and female bodies have different levels of hormones, anatomical differences beyond the obvious ones, and other differences that could make a significant difference in how drugs affect the body. That’s why men and women tend to experience different levels of intoxication from the same amount of alcohol, even taking weight into account. It’s also why manufacturers of sleep aids containing zolpiem, the active ingredient in Ambien, had to change labeling last year to list two recommended doses. The single listed dose, still recommended for men, was twice the dose now given for women, who were reporting high rates of sleep driving and other dangerous reactions.

Weight Loss and Happiness

Although some research indicates losing weight makes people healthier, many dieters don’t cite health concerns as their reason for trying to lose weight. Instead, they say they are doing it in pursuit of a more general life improvement. Now a new study, which followed nearly 2,000 people in the Unite Kingdom over four years, reiterates that people who expect weight loss to lead to a better, happier life may well wind up disappointed, and in reality, losing weight does not make people happy.

One aspect of the problem is high expectations. Weight is only one aspect of someone’s life, an a fat person with problems who slims down is likely to end up as a thinner person with many of the same problems. Moreover, weight loss is a slow and difficult process, and there are no instant results. The researchers characterized their results as meaning that dieters should not expect instant improvement in all areas.

That doesn’t necessarily mean no one should bother. In the study, subjects who had a weight loss of at least five percent were found to have significantly improved health outcomes. Fourteen percent of study subjects achieve this level of weight loss, an average of 15 pounds each, and their physical health improved, but at the cost of mental health. Even taking unrelated averse life events into consideration, the subjects who lost weight were 50 percent more likely to be depressed than those who did not.

The researchers cite unrealistic expectations, encouraged both by the culture generally and weight loss industry advertising in particular, as one factor in this linkage. Another aspect of it is the constant temptation, also encouraged by advertising, to eat unhealthy foods and foods that might impede weight loss. In fact, many of these foods are promoted as enjoyable because they are in opposition to weight loss efforts.

The researchers say their findings are relevant not only to people considering losing weight but to their doctors. They say doctors should take mental health and well-being into account when advising patients on whether and how to lose weight. Doctors should monitor patients who are losing weight to ensure that signs of depression are promptly addressed. The study only looked at the weight loss period, an it is not known if the effect diminishes or disappears once the goal is reached and the dieter can switch focus from losing weight to keeping it off.

Birth By Cesarian Section

Delivery by cesarean section is a surgical operation performed to make delivering a baby faster and more precise. The operation involves cutting into the mother’s abdomen to reach the uterus, and delivering the baby through this incision rather than the vagina. It is a controversial procedure, because there exists a belief that many cesarean sections are being performed needlessly, for the convenience of the doctor rather than for the benefit of the patient&mash;a cesarean allows greater control over the timing and duration of the birth, permitting more exact scheduling. As with any surgical procedures, there are inherent risks, an some, such as postpartum depression, unique to pregnancy. This is why many patient advocates want to see cesarean sections limited to cases in which vaginal delivery is itself expected to be unusually dangerous.

In some cases, however, even if there is a heightened risk with vaginal delivery, doctors or patients are reluctant to turn to cesarean section as an option. For example, in a breech birth, the fetus fails to turn around prior to the beginning of labor, creating a situation in which the head of the fetus can be trapped, which can be deadly for the fetus and harmful to the mother. Although this is one of the complications for which cesarean section is medically advised by most doctors, as many as 40 percent of mothers of breech fetuses prefer vaginal delivery.

Nonetheless, while the number of cesarean sections leveled off at the beginning of the decade, there has been a sharp increase in recent years. Many obstetricians are moving towards looking for specific criteria before suggesting a cesarean section, or performing one as an emergency procedure. These criteria include difficult labor, abnormal fetal heart rate, breech birth or other issues with the position of the fetus, or an unusually large fetus. Multiple births, particularly triplets or more, also often call for cesarean delivery.

In some cases, such as preeclampsia or overdue pregnancy, doctors may use medications or hormones to induce labor. Though this also carries risks, it does not increase the chances of cesarean delivery. In fact, recent studies have found that it reduces it; women who have labor induced are 12 percent less likely to have to undergo cesarean delivery than those who allowed nature to take its course.

Ending Lupus

Lupus is an autoimmune disease primarily affecting women, black people, and teenagers and adults under 40; people who are all three are not only at especially high risk for lupus, they are more likely to have life-threatening complications. All autoimmune diseases involve the immune system attacking a healthy organ as though it were foreign matter, but lupus is distinguished by its lack of specificity&mash;it can involve the skin, kidneys, lungs, heart, blood cells, joints, or even the brain. As a result, it can be difficult to spot. More precisely, it’s easy to spot, but difficult to rule out, due to the wide variety of symptoms that could, conceivably,be attributed to lupus and the tendency of different symptoms to appear in different patients. As a result, lupus is generally diagnosed only when other possibilities have been eliminated.

Treatment for lupus is centered around medications called glucocorticoids to fight inflammation and rein in the immune system. However, these medications can have severe side effects, including weight gain, high blood pressure, bruising, diabetes, bone loss, and heightened infection risk. Now a new study in Spain has found success with an old treatment. Drugs used to fight malaria, such as hydroxychloroquine, have been used for lupus since the Second World War, and have been shown to be effective&mash;in mild cases, patients taking hydroxychloroquine may not need any other treatment.

Other research is focused on more permanent treatments. In a study conducted in Chicago, synthetic proteins, called peptides, that imitate proteins that play a role in regulating the immune system. The synthetic peptides effectively stood down the immune cells that were working on the patients’ own healthy tissue, without the severe and dangerous side effects of the medications used against the disease.

Interestingly, a patient with both lupus and HIV was found to benefit from the combination&mash;the overactive immune response of lupus overcame the immune deficiency caused by HIV, and prevented the latter disease from having a strong effect. Researchers are exploring the phenomenon and trying to use what they are learning from studying this patient to develop a vaccine for HIV. However, the effects of HIV did not, in turn, modulate the lupus.

Malaria Remains A Threat

The man who checked into a New York City hospital in May with what were believed to be symptoms of Ebola virus infection has tested negative for that disease, but what doctors think he is infected with is also a public health risk in the developing world: malaria. News organizations have reported that the high fever and gastrointestinal problems that sent the Columbia University graduate student to the hospital may well have been something he picked up in his travels to Sierra Leone, but not Ebola. However, being more prosaic&mash;or less topical&mash;than Ebola doesn’t mean malaria isn’t dangerous.

In fact, one million deaths each year are attributed to malaria, making it the seventh deadliest illness in the developing world. It’s not directly contagious, but it is easily passed from mosquitoes to people, and it is easily picked up by mosquitoes who sting infected people; in all, more than 200 million people get malaria this way each year, many of them children, in the tropical areas near the Equator. There are five species of parasite that cause malaria, and at least 26 different strains of the disease, which makes it difficult to treat&mash;because these strains respond differently to medications from each other&mash;and difficult to vaccinate against, because an immune response to one doesn’t necessarily generalize to the others.

Treatment is especially difficult lately, because drug resistance is on the rise, with medications being less effective as the parasites adapt to them. Malaria patients in Asia are being found with parasites that are completely resistant to current first-line drugs, requiring doctors to turn elsewhere to eliminate the threat. This is why it is important to attack the disease at its source and stop it from spreading. Researchers are investigating ways to apply criminal profiling techniques to find the breeding sites of the mosquitoes that carry the parasite. Once these sites are found, the mosquitoes can be eliminated, or treated to produce only harmless males. Alternatively, scientists are looking at ways to cure malaria in mosquitoes, so it cannot be passed to people.

A Look At Gout

More and more people are coming to doctors with symptoms of gout. Gout is generally thought of as a disease of the Victorian upper class. There is some truth to this, in that it was common among the upper class and nobility in and before the Victorian era, to the point where it was once known as the "disease of kings." However, gout is still around, and it’s not just the rich. That’s because gout is in part a disease of diet and lifestyle, and both of these things are more democratic than they were in centuries past; ordinary people in 2014 are leading lives unimaginable to even the nobility 100 years ago.

In particular, people today consume more alcohol, seafood, red meat, and other foods containing compounds called purines. Purine contributes to a buildup of uric acid, which, as the name suggests, is ordinarily passed in urine. However, when people eat a purine-heavy diet, they are more prone to overwhelming their kidneys with uric acid, to the point that the kidneys are unable to get rid of all of it. When this excess uric acid builds up in the joints, they become painful and inflamed. Gout is most common in men and in postmenopausal women.

The most common symptom is painful joint swelling in the feet, especially the big toe. The swelling is accompanied by redness and tenderness. This pain is intense for 12 to 24 hours and gradually lessens, though it can last for weeks. Subsequent gout attacks may have a slightly lower peak, but they last longer and the pain is in more joints. Even when people exhibit these symptoms, gout is often underdiagnosed because people&mash;even doctors, sometimes&mash;associate it with rich people of an earlier era, and may not think to look for it.

In addition, the standard diagnostic technique is not always precise. When someone is showing symptoms of gout, the doctor will take a sample of joint fluid and examine it to look for the characteristic uric acid crystals, but doctors don’t always find these. Now a new study used computerized tomography (CT) scanning to look for signs of gout that the usual approach might miss. One in three patients who tested negative under the microscope showed indications of gout in the scanner, allowing them to get the treatment they needed.