Imagine living with an unknown genetic disease that causes excruciating pain just from walking. Consider what it is like to spend years undergoing tests at major institutions – places like Harvard, the Mayo Clinic, and others – and still leave doctors scratching their heads.

That is what happened to nine siblings, most in their forties and fifties, from three families. They were all suffering from ACDC, a newly discovered degenerative disease causing their arteries to harden with calcium deposits as thick as deposits found in water pipes. The disease had been a medical mystery until earlier last year, when researchers at the National Institutes of Health Undiagnosed Diseases Program (UDP) discovered that arterial calcification occurs due to a very rare deficiency in CD73, a protein that produces a molecule that prevents calcification.

The siblings still cannot walk more than short distances without pain, but the UDP has obtained FDA approval to administer drugs that could improve the patients’ conditions. These successes and others in the program were announced in the September 26, 2011 issue of the journal Genetics in Medicine.

The government-funded program, an offshoot of the National Human Genome Research Institute (NHGRI), began three years ago and is free to patients. More than 326 people have been accepted and of these, neurological disorders account for nearly half. Commenting on the high percentage of neurological cases, Dr. Cynthia Tifft, Deputy Clinical Director of NHGRI, says, “Many of the unsolved mysteries in medicine revolve around the brain.”

Most patients spend a week at the UDP clinic in Bethesda, Maryland, where they undergo a battery of diagnostic tests in one week. After the patients leave, the UDP researchers hit the lab and conduct meticulous tests looking at gene sequences in the patients’ DNA. First they must pinpoint the source of a defect and then prove that the mutation is actually causing the patient’s problem. Says Dr. Tifft, “We’re looking for a needle in a haystack. Because these diseases are new or extremely rare, it’s like conducting a research study for one person.”

Another case the researchers solved was that of a woman with a painful buildup of protein in her muscles. This turned out to be amyloidosis, a rare bone marrow disease. Armed with this knowledge, her doctors improved her condition with a stem cell bone marrow transplant.

UDP doctors hope that unlocking the mysteries of rare disorders will help in understanding and treating more common diseases, from osteoporosis to Alzheimer’s. Meanwhile, for the patients in the UDP, often there is no proven remedy. The doctors send patients home to their own physicians with recommendations for symptom relief.

There have been so many applicants for the UDP that it was closed to new patients for a while, but is now open for new applications. The caveats: Not everyone is accepted, a correct diagnosis is not always found, and there is a waiting list to begin the process. Yet for people who have exhausted all other options, the UDP may still offer hope.

CONNECT THE DOTS

To read more, visit NIH News. The New York Times had an excellent article as well. More information on how patients with longstanding medical conditions that elude diagnosis by a referring physician may be considered for UDP studies, go to NIH Office of Rare Diseases Research (ORDR) – Undiagnosed Diseases Program.

Researchers at Northeastern University have developed a virtual nurse and exercise coach that are surprisingly likable and effective—even if they’re not quite as affable as the medical hologram on Star Trek.

A spirit of optimism and momentum permeated the United Nations this month as public and private sectors strengthened their cooperation to fight world poverty and improve global health, said Ted Turner, founder of CNN and the United Nations Foundation.

“Doing good makes you feel good,” Turner added at a luncheon the foundation hosted Sept. 21, at the Harvard Club in New York City during the 66^th session of the General Assembly and other high-level meetings.

Sessions included a two-day summit on non-communicable diseases (NCDs) such as cancer, chronic lung diseases and diabetes. It is the first time the General Assembly has addressed the problem of NCDs, which cause three out of every five deaths, more than 80 per cent of which are in low to middle-income nations, threatening development and stability.

Turner is all for business being more involved in global development, not only providing material resources but also contributing to policy-making and program execution.

“I’m a business person. I’m in development. We’re all involved in development,” he said before the luncheon, whose co-hosts included General Electric.

GE launched healthymagination, a pioneering six-year, $3 billion global healthcare initiative, in 2009 to deliver better care to more people at a lower cost, expanding the quality and access for millions of people in rural and underserved areas.  It draws on capabilities throughout the company, including GE Healthcare, GE Capital, GE Energy, the GE Global Research Center as well as the GE Foundation, the philanthropic arm of GE.

Last year UN Secretary General Ban Ki-moon hit the company’s “sweet spot” when he launched the groundbreaking Every Woman, Every Child campaign to help save the lives of 16 million women and children by 2015 and achieve UN Millennium Development Goals, said Michael Barber, vice president of healthymagination. To help increase local access to care in more than 80 countries and reduce maternal and infant mortality, GE has expanded its Maternal-Infant Care technology portfolio, more than doubling its presence in the developing world.

The UN reports that the initiative has raised $40 billion this year, and become a model for broad-based international partnerships.

GE recently announced a $1 billion global campaign to fight cancer around the world by accelerating innovation and helping to improve access to screening and treatment.

The importance of including the private sector in the development process was stressed in a panel discussion, also on Sept. 21, sponsored by Business Call to Action.  The organization aims to accelerate progress towards achieving the UN Millennium Goals by challenging companies to develop inclusive business models that offer potential for both commercial success and development impact.

“The days are gone when development was the domain of the development community. The private sector is at the forefront of change,” said Sigrid Kaag, assistant secretary-general and assistant administrator of the Partnerships Bureau of the UN Development Programme.  He added that much can be learned from the private sector.

The days are also gone when development is confined to isolated pilot projects. Today the stress is on global impact. Jane Nelson, director of Corporate Social Responsibility at Harvard Kennedy School, pointed out that global conglomerates are particularly suited to making a significant impact. GE’s Barber agreed: “We can be local because we understand local needs, but I think the global scale helps us with outcomes.”

Private sector incentives not only strive to increase profit but also to encourage healthier, more empowered consumers and a healthier workforce. Georg Kell, executive director of the UN Global Compact, summed it up when he said, “Business cannot grow in societies that fail.”

Connect the Dots

Interested in learning more?  Visit the Every Mother, Every Child Campaign, UN Millennium Goals, UN Foundation, and Business Call to Action websites.  Also, take a look at GE’s commitment to improving healthcare for everyone, or visit their GE healthymagination site.

Chronic illnesses, emergency care, disaster preparedness, and health awareness are all important issues in healthcare today. Though most healthcare workers are familiar with these issues, over 56,000 school nurses in the United States confront their reality every day while working with approximately 56 million students. School nurses may still put on bandages and call parents as in the past, but in today’s world their job is so much more.

Nichole Bobo, RN, MSN, Nursing Education Director at the National Association of School Nurses (NASN), explains that the role of school nurses is vital to our national health in many ways, starting with prevention. According to Bobo, immunization rates drop as children get older. “There are school mandates for most of the school-entry elementary vaccines,” she says. “Those rates tend to continue to be high, but it’s the adolescent issue that school nurses focus on, because those [compliance] rates are 30 to 50 percent, depending on the vaccine.”

Low vaccine rates mean children are more vulnerable to becoming ill. When children are ill they miss school and are therefore more likely to fall behind.  The further they fall behind, the lower their chances of graduating or moving on to higher education.

In addition to prevention, school nurses face situations that would not have been experienced in public schools a few decades ago. Children are living with diseases that would have forced their absence from school or, at worst, even been fatal. Now, these children go to schools which accept the responsibility of providing care. “Students are coming in to school with insulin pumps, “ says Bobo. “They are coming in maybe diagnosed on Friday and they show up at school on Monday.”

Martha Dewey Bergren, DNS, RN, Director of Research at the NASN, agrees, “This is one of the major reasons school nursing has changed.” Bergren recalls when she worked in a school in 1999, “Under my care, I had two students who were on ventilators, one of whom came to school almost every day.” This change was due to the Individuals with Disabilities Education Act, enacted in 1975, requiring public schools to provide education and support for children with disabilities.

On any given day, among their many other duties, a school nurse may also be called upon to:

* administer emergency care

* review or develop a disaster plan

* administer chemotherapy

* determine common factors between illnesses to track potential dangers

* provide counseling

Because of their expanded role, having a school nurse increases the number of days students are in school. “When there is a registered nurse in the building, children are 57 percent less likely to be sent home,” Bergren says. Additionally, if a school nurse is present to deal with health issues, school staff can focus on their own jobs.

“There was a recent study out about the number of hours that school administrators, teachers and secretaries spent on health issues when there was not a school nurse in the building, there was a pretty dramatic number of hours that could be decreased for those folks who have a very focused educational agenda,” says Bobo. “In this day and age where every dollar counts and the quality of education is in the spotlight, having a school nurse on hand may improve the students’ chances at success.”

School nurses not only have to keep up-to-date with medical and health advances, they also need to keep up with the latest in technology.  Aiding students make healthy food choices, for example, could involve helping them download an “app for that.” As mentioned in a 2008 report by the American Academy of Pediatrics, the need for strong and knowledgeable nurses will therefore continue to grow.

CONNECT THE DOTS

Not sure why back-to-school physical exams are required? The American Academy of Pediatrics reviews this annual requirement and the American Academy of Family Physicians reviews childhood immunizations recommendations. The National Center for Chronic Disease Prevention and Health Promotion recommends a coordinated health strategy (CHS) in order to improve the health of students and their ability to learn in school.  Also, read about the acute shortage of school nurses in the U.S. today, and how this could prevent many children (particularly those lacking healthcare) from access to medical professionals.

Researchers have long searched for ways to provide a more targeted treatment approach. Now, a team of chemical engineers at MIT may have found the answer: nanoparticles. These tiny polymer objects (about the 1/100^th the thickness of a human hair), which can be constructed in layers, can be injected intravenously into the body and designed to carry virtually any drug, says Paula Hammond, a member of the David H. Koch Institute for Integrative Cancer Research at MIT.

Once in the bloodstream, the nanoparticles exist for up to 24 hours. Hundreds of thousands of them gather at a tumor site and exploit a trait shared by most cancers: a higher acidity level than healthy tissues. The acidity breaks down the outer layer of the nanoparticle, thus exposing the middle layer. The nanoparticles then penetrate the cancer tumor’s membranes and release the medication. “The fact that layers can be stripped away makes it possible to deliver the treatment to the right place,” she says.

Hammond began exploring the idea of constructing nanoparticles about 18 months ago. The team has already tested the nanoparticles on mice and found “an order of magnitude increase in the accumulation of the nanoparticle in the tumor” as well as the ability to release markers meant to simulate actual drugs. What’s more, the nanoparticle remains in the tumor for an additional few days. “The nanoparticles provide a way to dispense a sustained dose of medication,” Hammond says.

In the future, the nanoparticles might also be used to treat other conditions that require a highly targeted dose of medication at a specific location. This might include a disease such as multiple sclerosis or a common infection. Hammond believes that the nanoparticles are about 5 to 10 years away from human trials and commercial use. “This is a significant breakthrough,” Hammond concludes. If the particles prove effective in human studies, “it could significantly alter the way doctors treat cancer and other diseases.”

CONNECT THE DOTS

More information about the MIT nanoparticle research is available at the Journal ACS Nano. In addition, Georgia Tech scientists are experimenting with magnetic nanoparticles that attach to cancer cells in order to combat ovarian cancer. Researchers at the University of Hull in the UK have developed a method of loading nanoparticles with numerous light-sensitive molecules that can transport medicine to a cancerous area.

If you had latent tuberculosis—infection with TB bacteria that could flare up into active disease–which treatment therapy would you choose: a three-month therapy of 12 weekly doses or a nine-month therapy of 270 daily doses?

According to a multinational study by the Centers for Disease Control and Prevention, people with latent tuberculosis (TB) now have access to a new, faster regimen with fewer doses. Seen as one of the biggest developments in TB treatment in decades, the PREVENT TB study shows that the new regimen is as safe and effective as the longer standard therapy, and it has a significantly higher rate of completion. The research results were presented at the American Thoracic Society 2011 International Conference in Denver, Colorado.

“This new treatment regimen is fantastic – the drugs are excellent, the treatment takes only 3 months and it will help prevent drug resistance, ” reports Lee B. Reichman, MD, MPH, executive director, New Jersey Medical School Global Tuberculosis Institute and professor of preventive medicine, UMDNJ-New Jersey Medical School.

TB is an airborne infectious disease caused by the bacterium Mycobacterium tuberculosis. The bacteria usually invade the lungs but can also attack the kidney, spine or brain. It is one of the deadliest diseases in the world — one-third of the world’s population is infected with TB and there are almost 2 million TB-related deaths on a global basis each year.

In the United States, there were 11, 181 reported cases of TB in 2010, down significantly from the 84, 304 cases reported in 1953 when the disease was first tracked by the CDC. Approximately 11 million Americans are infected with latent TB, but many are unaware as it can only be found by a positive reaction to a TB blood or skin test.

Latent TB infection occurs when a person has TB bacteria in their body but has no symptoms and cannot transmit the bacteria to others. About 10% of people who have latent TB infection will go on to develop active TB disease, which may include symptoms such as a bad cough that lasts for weeks, pain in the chest, coughing up blood or sputum, chills, fever and sweating at night.

The PREVENT TB study was one of the largest CDC-sponsored clinical trials, taking over 10 years to complete. It involved 8,053 participants from countries with low to medium incidence of TB, with the majority from the United States and Canada. Dr. Reichman points out that given how slowly TB grows and the fact that only 10% of those infected with latent TB will develop active TB, “It’s pretty ingenious that these studies were put together by the TB Trials Consortium 10-15 years ago.”

The new regimen of a once weekly, directly supervised therapy of rifapentine taken together with isoniazid for 3 months has proven to be as safe and effective as the standard therapy of daily, self-administered isoniazid alone for 9 months. Very few cases of TB developed in either the test group taking the new regimen (7) or the control group taking the standard treatment (15). Importantly, the rate of treatment completion was significantly higher at 82% for the new regimen group, compared to 69% in the standard therapy group.

Researchers note that study results only apply to countries with low to medium incidence of TB and further research is needed before the new regimen can be recommended in countries where there is a high incidence of TB. Treatment guidelines for the new regimen are expected later this year, but are anticipated to include the recommendation that the drugs be administered under direct supervision, as tested in the study group.

Dr. Reichman says, “People may think that we don’t get TB anymore, but they don’t realize, the reason why we don’t is due to new regimens like this. If we don’t continue our vigilance against TB, it’s going to come back with a vengeance.”

CONNECT THE DOTS

GE scientists in Bangalore, India, Shanghai, China, and Niskayuna, New York are investigating to see if existing technologies can be leveraged to provide a rapid point-of-care diagnostic test for TB. Read our earlier post Tuberculosis, New Weapons Against an Old Disease. Visit the CDC site for Tuberculosis or check out the WHO’s Stop TB Strategy, a global initiative to reduce the burden of TB by 2015.

Stacy Szucs faced that question after she was diagnosed with breast cancer. With proper care, her prognosis for recovery was bright. But just five minutes into her first infusion of a chemo drug called Taxotere (docetaxel), she had an adverse reaction. According to Szucs, she began having chest pressure, saw stars and almost passed out. It turns out that Szucs was allergic to the chemotherapy drug her oncologist had prescribed.

Until recently, Szucs’ only option would have been to switch to another chemotherapy drug that may have been less effective. Now, there is a step-by-step process that can desensitize cancer patients to the drug to which they are allergic. Desensitization is a carefully controlled method of helping patients temporarily tolerate medications from aspirin to antibiotics to chemo that their bodies once rejected.

“We have, in more than 98 percent of patients, been able to desensitize people to give them the optimal treatment,” says DeKalb Medical Center allergist, Dr. George Gottlieb.

The night before and morning of their infusion, patients take a prescribed amount of certain over-the-counter and prescription allergy medications as directed by their physicians. To help patients tolerate their chemo medication, it is delivered in stages. First, the chemotherapy is diluted and divided into several bags. The strength of the dosage increases with each successive bag.

Because the desensitization lasts only as long as the patient is taking a daily dose of that medication, chemotherapy patients must undergo desensitization before each treatment cycle. The process takes time and lasts roughly six hours instead of the usual two.

Initially, Szucs was reluctant to trying the drug therapy that had made her so sick. However, she underwent another round because it was believed to be the best option. When she had no reaction after the first bag, she had the courage to keep going. She is now cancer-free. To date, 60 patients have gone through the program with a 93% success rate.

CONNECT THE DOTS

Learn more about how Dekalb Medical Center’s Rapid Chemotherapy Desensitization works. Fewer Americans are being diagnosed with cancer and the survival rate has increased for those who are thanks to breakthroughs in cancer treatment. No doubt, you’ve heard the term “chemo brain.” Learn more about it and its causes.

Conventional wisdom has long been that picturing a gooey cinnamon roll or a pizza oozing with cheese will rev up your appetite and set you up to binge on those goodies. But the lead author of the study, Carey Morewedge, Assistant Professor of Social and Decision Sciences, says that simply imagining the consumption of a food can have the opposite effect.

“The mental imagery of actually eating that food decreases our desire for it,” Morewedge explains. “These findings suggest that trying to suppress one’s thoughts of desired foods in order to curb cravings for those foods is a fundamentally flawed strategy.”

To conduct the study, Morewedge and his colleagues divided the participants into two groups and asked them to imagine eating either cheese cubes or M&Ms, one a time. The first group was asked to imagine eating just three of the morsels, while the second group imagined eating 30. Then, they were allowed to eat those foods for real.

“People who imagined eating 30 units of the food one at a time ate about between 40 and 50 percent less than people who imagined eating three units of the food,” said Morewedge.

The experiments showed that the reduction in actual consumption following imagined consumption was caused by a gradual reduction in motivation to eat more of the food. They also demonstrated that, in order to reduce the amount of food eaten, the mental imagery had to be about that particular food.

Morewedge believes that this research may have many valuable applications in the future. “We think these findings will help develop future interventions to reduce cravings for things such as unhealthy food, drugs and cigarettes, and hope they will help us learn how to help people make healthier food choices.”

In the meantime, I’ll try it to see if I can drop a few pounds. Do you think imaging yourself eating your favorite goodies would help you lose weight?

CONNECT THE DOTS

This healthy food diary mobile app can also help get your diet in check. Anti-obesity crusader, Barry Popkin, says we must address the root causes of obesity. Check out the self compassion diet and a free iPhone app can help you make better food choices.

28 million Americans suffer from debilitating migraines. And biofeedback can help put them in the driver’s seat by teaching them to control or modify their own body responses – responses that normally aren’t controlled voluntarily. Notably, it can aid in reducing muscle tension, a culprit in heightening migraine pain and, of course, in ubiquitous tension headaches. Biofeedback can also reduce stress, which is known to exacerbate migraine symptoms.

How does biofeedback work? Think of the way a thermometer can measure a physiological state externally. Well, biofeedback does the same thing – only more so. Various electronic or electromechanical instruments painlessly measure and process information about physiological functions like temperature, muscle tension, blood pressure, heart rate and brain waves. They then display the results in real-time in lines on a monitor or, perhaps, by emitting tones of varying pitch.

Essentially, biofeedback therapists train people to use their own thoughts to control what is happening in their bodies. First, they must become aware of subtle physiological signals, then learn to focus on them, and – generally while watching their progress on a screen – ultimately to manipulate them.

Reducing muscle tension helps because migraines generally have a muscle contraction component, says George von Bozzay Ph.D., founder and clinical director of the Biofeedback Institute of San Francisco. He trains patients to locate and isolate target muscles, then to contract and release them. “It’s sort of like learning how to wiggle your ears,” he says. In other words, it takes practice. He recommends eight to twelve treatment sessions and perhaps ten minutes of focused relaxation exercises twice daily.

For many, the commitment to changing thought processes or breathing patterns with techniques like guided imagery or abdominal breathing pays off by reducing pain.  A 2008 review of ninety-four separate studies of biofeedback and migraine and tension-type headaches, published in the journal Applied Psychophysiology and Biofeedback, concluded it is effective in reducing migraine and headache frequency and pain levels.

“It’s a very helpful technique,” says Seymour Diamond, M.D., founder of the Diamond Headache Clinic and of the National Headache Foundation. His clinic uses temperature training, progressive relaxation and diaphragmatic breathing, all to provoke the body’s natural relaxation response.

Sensors or electrodes are generally applied to the head and fingers, then connected to the equipment. The therapist takes a baseline reading, then demonstrates how to evoke a quantifiably different physiological response by changing thinking or breathing. Slowing breathing and synchronizing it to the heart rhythm with progressive relaxation or visualization techniques, for example, can work well.

There are various types of biofeedback equipment. Electromyography (EMG) measures muscle tension. And von Bozzey believes tackling that with biofeedback can derail an approaching migraine, “because it doesn’t get triggered, it doesn’t have the muscle contraction precursor.”

Many experts like von Bozzey believe blood vessel constriction is involved in migraines. Frequently, migraines are preceded by a drop in hand temperature because “there’s less blood flow, there’s less heat flow,” he says. Temperature training with guided imagery or slow abdominal breath helps patients warm their own hands. “We’re trying to get them to redirect the blood flow to their arms or hands and away from the head,” Dr. Diamond adds.

Biofeedback’s end goal is to completely eliminate the need for instruments by having patients internalize the techniques. The external loop – electrode to machine to patient – is replaced, he says, “with an internal loop that the person is aware of inside their body.” But biofeedback is no substitute for medical care. Always discuss symptoms and treatment with a physician.

Heart rate variability machines can work well for training respiration, says von Bozzay. He suggests a few training sessions with a healthcare provider or therapist before going it alone. Some devices are portable, others connect to a Mac or PC. See the Resperate, the StressEraser, and the emWave.

CONNECT THE DOTS

Find a certified practitioner through the Biofeedback Certification International Alliance. More information is available through the American Migraine Foundation, the University of Maryland Medical Center, and the Association for Applied Psychophysiology and Biofeedback.

For the 23 million people in the United States, a diagnosis of diabetes can mean an ongoing battle. But scientists are constantly searching for better technology to improve patient health. At the Spectroscopy Lab at MIT (Massachusetts Institute of Technology), lead researchers Ishan Barman and Chae-Ryon Kong have been using a technique called the Raman spectroscopy to monitor blood glucose levels. This method could be a relief for patients with Type 1 diabetes, who often prick themselves with a needle up to a dozen times a day.

Barman and Kong explained that the Raman spectroscopy works by shining a light onto the skin. Part of what makes this technology unique, is that by simply scanning a patient’s arm or finger, researchers can have a rapid blood glucose reading.

For scientists, there have been a number of challenges that have made this process difficult. One setback has stemmed in the fact that light was unable to penetrate far enough into the skin. Previously, researchers were only able to detect glucose in the fluid surrounding skin cells (also called interstitial fluid glucose), rather than in the bloodstream, Kong explained.

This made it difficult for them to accurately monitor blood glucose levels, since blood glucose levels can change in a moment’s notice, especially after eating a large meal.

However, the team at MIT created a mathematical algorithm to help counter balance this problem. “We use a mathematical model into the algorithm, which allows us to transform between blood and interstitial fluid glucose,” explained Kong.

Currently, the Raman spectroscope machine is the size of a shopping cart. Ultimately, Barman and Kong would like to reduce it to the size of a laptop. Although it is hard to estimate when this technology will be available for the public, Barman believes that this technology is a non-invasive procedure that can reduce the stigma of blood glucose monitoring. Furthermore, Barman says that the team hopes to make the device portable, so that it can be used at home, or at a doctor’s office.

CONNECT THE DOTS

To learn more about Raman spectroscope and diabetes technology, visit the MIT Spectroscope Laboratory website. To see Barman and Kong’s research work, visit the journal of Analytical Chemistry here. Learn about how to get an accurate results from a glucose meter.