From the category archives:

Diagnostics

vent check MRAs recently as 2005, Boston Children’s Hospital’s Department of Radiology performed 25 to 30 CT studies daily to check ventricular shunts–devices placed in children with hydrocephalus and other conditions to drain fluid from the brain’s ventricles. Today, the volume of these CT scans has fallen to one exam every few days. Richard Robertson, MD, radiologist-in-chief at Boston Children’s, thinks this 77 percent drop is great news.

Neuro-imaging exams are essential for children with ventricular shunts presenting with new neurologic symptoms to help determine whether the shunt is working properly or has become blocked or disconnected. “Kids who have shunt catheters can have a large number of CT studies, in some patients up to 50 or 60 over their lifetimes. A child with an infection or shunt malfunction may have many studies even in a single month,” says Robertson.

Although the exams are necessary, exposure to ionizing radiation from even a single CT exam carries a slightly increased risk for cancer that rises with each subsequent exam. There is no known threshold below which exposure is considered safe.

During the 2005 meeting of the American Society of Neuroradiology, one of Robertson’s colleagues gave a presentation about single-slice acquisition MRI, a limited, two-minute exam that provides the basic information needed to assess the size of the cerebral ventricles. Full story »

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An early prediction of telemedicine

The TeleDactyl, as depicted on the cover of Science and Invention magazine in 1925.

Shawn Farrell, MBA, is Telemedicine and Telehealth Program Manager at Boston Children’s Hospital.

Back in the 1920s, when medicine was more an art than a science and doctors made home visits, a publishing and radio pioneer named Hugo Gernsback predicted the future of telehealth. As described on Smithsonian.com, he wrote of a device called the TeleDactyl: “a future instrument by which it will be possible for us to ‘feel at a distance’”—dactyl, from the Greek, meaning finger.

Since that time, the practice of medicine has changed dramatically. Our understanding of the human body has advanced beyond our wildest dreams, producing drugs, devices and procedures that have made hospitals a place for healing and curing. At the same time, home visits were abandoned in favor of the office visit, making doctors more efficient. Almost 100 years later, several converging forces are making the home visit popular again, increasing the likelihood of seeing Gernsback’s vision become a reality.

The rollout of the Affordable Care Act, which will add millions of new patients to the health care system, comes at the same time that we have a shortage of primary care doctors, specialists and other care providers. Full story »

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solving the autism equation

An 'Information Commons' could better delineate the different faces of ASD by combining objective molecular, biochemical and neurological measures.

Alal Eran, PhD, studies the molecular basis of autism at Boston Children’s Hospital and Harvard Medical School.

Yet another redefinition of autism spectrum disorder (ASD) has stirred up debate. The new Diagnostic and Statistical Manual of Mental Disorders (DSM-5) now collapses four previously distinct conditions—autistic disorder, Asperger syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified—under one umbrella label of ASD. It also collapses the traditional autistic triad (social deficits, communication impairments and restricted interests/behaviors) into two domains: social/communication deficits and restricted interests/behaviors.

While intended to increase accuracy and utility, the new diagnostic criteria for autism—the fifth revision since 1980—have attracted an unprecedented level of criticism by clinicians, researchers and families. The criteria for membership in DSM categories are much less robust than those for other clinical classification schemes—as evidenced by the rapid change in the DSM over the last 50 years. But more importantly, they are based only on behavioral symptoms. Full story »

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Roulette_wheel2013 saw an accelerated crumbling of borders and boundaries in health care, fueled by technological and scientific advances. Boundaries between high-tech Western medicine and global health practices have begun blurring in interesting ways, as are those between home and hospital, patient and doctor and even a patient’s own body and the treatment used for her disease.

Last year also saw a fierce political fight over the Affordable Care Act (ACA)—aka Obamacare—ending in some six million people crossing the boundary from uninsured to insured, according to HMS, if you count Medicaid and Children’s Health Insurance Program eligibles.

What does all this portend for 2014? This year, Vector asked leaders from all walks of life at Boston Children’s Hospital to weigh in with their predictions. Full story »

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New research may change the way we culture and treat infections. (Burkholderia cepacia complex, CDC/Wikimedia Commons)

New research may change the way we culture and treat infections. (Burkholderia cepacia complex, CDC/Wikimedia Commons)

Ed. note: A longer version of this story appeared on Harvard Medical School’s website.

A boy with cystic fibrosis develops a potentially deadly Burkholderia dolosa infection in his lungs. Various genetic mutations allow some bacterial strains to survive assaults from his immune system and antibiotics, while others perish. Eventually, the strongest mutant dominates the B. dolosa colony.

Right? Maybe not, say the authors of a new study. Examining sputum samples from infected patients, they found that dozens of different kinds of B. dolosa may coexist in that boy’s lungs—each adapting and surviving in different ways. The findings, published last month in Nature Genetics, warn of possible shortfalls in the way infections are currently cultured and treated.

“We found that when a pathogen like B. dolosa infects us, it diversifies. Many cells discover ways to survive, and these successful mutants coexist,” says senior author Roy Kishony, PhD, professor of systems biology at Harvard Medical School. Full story »

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heart_screening cropped ShutterstockDespite recent national pediatric guidelines recommending identification and treatment of children with familial hypercholesterolemia, the use of lipid-lowering treatment has been flat over the past decade in real-world pediatric practice, finds a large multicenter study.

Justin Zachariah, MD, MPH, a pediatric cardiologist at Boston Children’s Hospital, presented the findings this week at the 2013 American Heart Association (AHA) Scientific Sessions. He believes they dispel some critiques of the recent guidelines, particularly concerns that more screening would result in overmedicating the pediatric population.

Extending beyond 2008 recommendations from the American Academy of Pediatrics, the 2011 National Heart, Lung and Blood Institute’s pediatric guidelines call for universal lipid screening and medical treatment for children at highest risk for early cardiovascular disease. One such high-risk condition is familial hypercholesterolemia, a genetic disorder characterized by high blood cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, or “bad” cholesterol) and early coronary events. Full story »

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shutterstock_141722230Do you have a fever?

Do you have a cough?

If you’re sitting at home with a sore throat, your answers to those two questions could be enough to tell whether you should see a doctor for a strep test, thanks to a new risk measure created by Kenneth Mandl, MD, MPH, and Andrew Fine, MD, MPH, at Boston Children’s Hospital.

Called a “home score,” the measure combines the two questions above, your age, and data on the level of strep activity in your geographic area. The basic idea is that your symptoms, plus the big picture of what’s happening in your neighborhood, is a strong enough predictor to for you to go to the doctor for a throat swab.

Thought it’s just a research tool for now, if it were it were packaged into an app and fed the right data (localized strep test results from a health center or medical testing company, for example), the home score could allow someone with a sore throat to make an informed decision about whether they should consider going to the doctor.

Full story »

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Three clinics are pre-testing children for genetic variants likely to affect their response to drugs.

Three clinics are pre-testing children for genetic variants likely to affect their response to drugs.

In 2009, The New England Journal of Medicine reported the case of an otherwise healthy 2-year-old boy in Canada who died after surgery. He had received a codeine dose in the recommended range, but an autopsy revealed that morphine (a product of codeine metabolism) had built up to toxic levels in his blood and likely depressed his breathing. Genetic profiling revealed him to be an “ultrarapid codeine metabolizer,” due to a genetic variation in an enzyme known as CYP2D6, part of the cytochrome P-450 family.

While codeine is no longer used at Boston Children’s Hospital, it’s this kind of genetic profiling that Shannon Manzi, PharmD, would someday like to offer to all patients—before a drug is prescribed.

Not all people respond the same way to drugs. The results of randomized clinical trials—considered the gold standard for drug testing—often produce a dose range that worked for the majority of the patients in the study. They don’t take people’s individuality into account, and that individuality can dramatically affect drug efficacy and toxicity.

Adverse reactions are more common than you might think. Full story »

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Primary care visit

Is universal cardiovascular screening supported by the data, and are clinicians ready?

In 2011, the National Heart, Lung, and Blood Institute (NHLBI) guidelines for cardiovascular risk reduction in pediatrics reinforced the recommendation that primary care pediatricians (PCPs) should screen children and adolescents for cholesterol and blood pressure elevations. However, as PCPs try to incorporate it into their well childcare routine, questions are being raised about the practical implications of implementing that recommendation.

Last month, the U.S. Preventive Services Task Force (USPSTF) published its finding that there is not enough evidence to recommend for or against routine screening for primary hypertension in asymptomatic children and teens, repeating its suggestions from 2003. It has issued similar statements about lipid screening.

At this week’s 2013 American Academy of Pediatrics (AAP) conference, Sarah de Ferranti, MD, MPH, director of the Preventive Cardiology Clinic at Boston Children’s Hospital, gave a presentation titled “Universal Lipid Screening: Are Pediatricians Doing It and How Is It Working?” She spoke with Vector about screening both for cholesterol and blood pressure in children. Full story »

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lightbulbs_together_shutterstock_80864542Hackathons are quickly growing beyond Red Bull- and Dorito-fueled code-fests into fertile grounds for new technologies and products that potentially could improve medicine and health care.

But beyond individual events, could hackathons signal the beginnings of a new ecosystem for medical innovation?

That’s what groups like MIT’s H@cking Medicine, Brigham and Women’s Hospital (BWH)’s new iHub and the New Media Medicine group at the MIT Media Lab are betting on. By tapping the same creative entrepreneurial energy that hackathon culture has brought to the technology industry, they believe they can fundamentally reimagine health care, one device, app and system at a time.

“The Boston area is the most fertile ground for medical innovation you could ever imagine,” says Michael Docktor, MD, a gastroenterologist at Boston Children’s and one of the organizers, with the H@cking Medicine team, of this weekend’s Hacking Pediatrics hackathon. “We need to make the case with the local medical and technology community that hackathons are a viable way of innovating in this day and age, that this is the way we ought to be innovating.” Full story »

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