Stick-on respiratory monitor allows early detection of breathing problems

Toddler wearing ExSpiron respiratory monitor
A mock-up of the ExSpiron monitoring a toddler’s breathing

Children can be at risk for compromised breathing after surgery or from conditions like asthma, congestive heart failure or sleep apnea. Opioid therapy and sedation for medical procedures can also depress breathing. Unless a child is sick enough to have a breathing tube, respiratory problems can be difficult to detect early. Yet early detection can mean the difference between life and death.

“There is currently no real-time objective measure,” says Viviane Nasr, MD, an anesthesiologist with Boston Children’s Hospital’s Division of Cardiac Anesthesia. “Instead, respiratory assessment relies on oximetry data, a late indicator of respiratory decline, and on subjective clinical assessment.”

A new device, recently cleared by the FDA for children 1 year and older in medical settings, provides an easy, noninvasive way to tell how much air the lungs are receiving in real time. It can signal problems as much as 15-30 minutes before standard pulse oximetry picks up low blood oxygenation, according to one study.

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Viral discussion: Epidemics experts sound off on the future of infection control

Image of flu virus, which experts think will eventually lead to future epidemics
Is the next flu pandemic around the corner?

During the 1918 influenza pandemic, the average life expectancy in the U.S. dropped below 40 years old. Today, public health and medical professionals need to be actively preparing for the next great pandemic, according to leaders of the Massachusetts Medical Society, The New England Journal of Medicine and Microsoft founder Bill Gates, who delivered the keynote address at a Boston-based meeting on April 27 called Epidemics Going Viral: Innovation vs. Nature. Here’s recap of what we heard from various panelists.

The five key drivers of epidemics are population growth/urbanization, travel, animals, environmental/climate changes and conflicts/natural disasters, according to Harvey Fineberg, MD, PhD, President of the Gordon and Betty Moore Foundation and former president of the Institute of Medicine. When it comes to predicting and preventing the next epidemic, Fineberg believes that data from a social media platform like Twitter isn’t going to help identify the next big outbreak.

But John Brownstein, PhD, an epidemiologist and Chief Innovation Officer at Boston Children’s Hospital, disagreed with that idea.

“I believe it’s possible for Twitter to find the next microbe,” Brownstein said. “This information comes in real time and at global scale.” Attendees who were live tweeting with the hashtag #epidemicsgoviral were quick to highlight this difference of opinion.

Uber flu shot, “a cool millennial thing to do”

Anne Schuchat, MD, deputy director of the Centers of Disease Control, busted the myth that non-vaccination rates are rising. She explained that media stories about anti-vaccination supporters can make it seem as though vaccination rates are falling when they actually aren’t.

“Less than one percent of kids aren’t vaccinated in the U.S.,” Schuchat said.

But some vaccinations, like the annual flu shot, still have big gaps to close. Brownstein described how a partnership with Uber — dispatching flu vaccines and nurses to people’s homes — was able to influence people to get their first-ever flu shot.

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Diagnosing autism in infants? EEG algorithms make accurate predictions

autism EEGs
EEG nets are easily slipped over an infant’s head and cause no discomfort. (Credit: Nelson Lab)

The earlier autism can be diagnosed, the more effective interventions typically are. But the signs are often subtle or can be misinterpreted at young ages. As a result, many children aren’t diagnosed until age 2 or even older. Now, a study shows that electroencephalograms (EEGs), which measure the brain’s electrical activity, can accurately predict or rule out autism spectrum disorder (ASD) in babies as young as 3 months old. It appears today in Scientific Reports.

The beauty of EEG is that it’s already used in many pediatric neurology or developmental pediatric settings. “EEGs are low-cost, non-invasive and relatively easy to incorporate into well-baby checkups,” says study co-author Charles Nelson, PhD, director of the Laboratories of Cognitive Neuroscience at Boston Children’s Hospital. “Their reliability in predicting whether a child will develop autism raises the possibility of intervening very early, well before clear behavioral symptoms emerge.”

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A bold strategy to enhance CAR T-cell therapies, capable of targeting DIPG and other tough-to-treat cancers

CAR T-cell therapy uses a patient's own genetically modified T cells to attack cancer, as pictured here, where T cells surround a cancer cell.
T cells surround a cancer cell. Credit: National Institutes of Health

A Boston-based team of researchers, made up of scientists and pediatric oncologists, believe a better CAR T-cell therapy is on the horizon.

They say it could treat a range of cancers — including the notorious, universally-fatal childhood brain cancer known as diffuse intrinsic pontine glioma or DIPG — by targeting tumor cells in an exclusive manner that reduces life-threatening side effects (such as off-target toxicities and cytokine release syndrome). The team, led by Carl Novina, MD, PhD, and Mark Kieran, MD, PhD, of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, calls their approach “small molecule CAR T-cell therapy.”

Their plan is to optimize the ability for CAR T-cell therapies, which use a patient’s genetically modified T cells to combat cancer, to more specifically kill tumor cells without setting off an immune response “storm” known as cytokine release syndrome. The key ingredient is a unique small molecule that greatly enhances the specificity of the tumor targeting component of the therapy.

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Failed cancer drug may extend life in children with progeria

child with progeria and damage to cell nucleus
Image: Wikimedia Commons. (Source: The Cell Nucleus and Aging: Tantalizing Clues and Hopeful Promises. Scaffidi P, Gordon L, Misteli T. PLoS Biology Vol. 3/11/2005, e395 doi:10.1371/journal.pbio.0030395)

Hutchinson-Gilford Progeria Syndrome, better known as progeria, is a highly rare genetic disease of premature aging. It takes a cruel toll: Children begin losing body fat and hair, develop the thin, tight skin typical of elderly people and suffer from hearing loss, bone problems, hardening of the arteries, stiff joints and failure to grow. They die at an average age of 14½, typically from heart disease resembling that of old age.

An observational study published yesterday in the Journal of the American Medical Association suggests that a drug called lonafarnib, originally developed as a potential cancer treatment, can extend these children’s lives.

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Families and data scientists build insights on Phelan-McDermid syndrome

querying stacks of data

This is the third year that Jacob Works has made the trip down to Boston Children’s Hospital from Maine. With research assistant Haley Medeiros, he looks at pictures, answers questions, manipulates blocks and mimes actions like knocking on a door. His father, Travis, and another research assistant look on through a window.

“At first, we had to practically bribe him with an iPad with every task,” Travis says. “This year he’s more excited, because he understands more and is more confident and able to share more.”

Jacob, 11, was diagnosed in 2011 with Phelan-McDermid Syndrome, a rare genetic condition that typically causes children to be born “floppy,” with low muscle tone, and to have little or no speech, developmental delay and, often, autism-like behaviors. At the time, Jacob was one of about 800 known cases. But through chromosomal microarray testing, introduced in just the past decade for children with autism symptoms, more cases are being picked up.

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Science Seen: New microscope reveals biological life as you’ve never seen it before

Various images of cells captured by a new microscope reported in Science
A new microscope allows us to see how cells behave in 3D and real time inside living organisms.

Astronomers developed a “guide star” adaptive optics technique to obtain the most crystal-clear and precise telescopic images of distant galaxies, stars and planets. Now a team of scientists, led by Nobel laureate Eric Betzig, PhD, are borrowing the very same trick. They’ve combined it with lattice light-sheet to create a new microscope that’s able to capture real-time, incredibly detailed and accurate images, along with three-dimensional videos of biology on the cellular and sub-cellular level.

The work — a collaboration between researchers at Howard Hughes Medical Institute, Boston Children’s Hospital and Harvard Medical School —  is detailed in a new paper just published in Science.

“For the first time, we are seeing life itself at all levels inside whole, living organisms,” said Tom Kirchhausen, PhD, co-author on the new study, who is a senior investigator in the Program in Cellular and Molecular Medicine at Boston Children’s Hospital and a professor of cell biology and pediatrics at Harvard Medical School (HMS).

“Every time we’ve done an experiment with this microscope, we’ve observed something novel — and generated new ideas and hypotheses to test,” Kirchhausen said in a news story by HMS. “It can be used to study almost any problem in a biological system or organism I can think of.”

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News Note: A fresh perspective on RNA with big implications for drug development 

RNA-based drugs are the future of therapeuticsRibonucleic acid, or RNA, has long been underappreciated for its role in gene expression. Until recent years, RNA has been thought of merely as a messenger, shuttling DNA’s instructions to the genetic machinery that synthesizes proteins.

But new discoveries of RNA functions, modifications and its ability to transcribe sections of the genome that were previously considered “junk DNA” has led to the discovery of a huge number of new druggable targets.

These new insights into RNA’s complex purposes have largely been uncovered through ever-increasingly sensitive and affordable sequencing methods. As a result, RNA-based drugs now stand to greatly extend our ability to treat diseases beyond the scope of what’s possible with small molecules and biologics.

Although several RND-based drug approaches have already been established, some barriers still prevent these strategies from working broadly. In a review paper for Nature Structural and Molecular Biology, Judy Lieberman, MD, PhD, of the Program in Cellular and Molecular Medicine of Boston Children’s Hospital, lays out where RNA-based drug development currently stands.

Lieberman, who has helped pioneer the RNA-based drug revolution herself, was the first scientist to show in an animal disease model that small, double-stranded RNAs could be used as drugs and leveraged to knock down genes in cells.

Read Lieberman’s review: “Tapping the RNA world for therapeutics.”

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Snaps from the lab: Developing better autism interventions

How can we better understand and support people with autism? And how can we tell if an intervention is working? Those are among the questions being asked in the Faja Laboratory, where Susan Faja, PhD, and her team study social and cognitive development in children, teens and young adults with autism spectrum disorder (ASD), using a variety of tools.

Originally on Snapchat, this video walks through some of these studies, including:

  • Individual Development of Executive Attention (IDEA), looking at executive functioning in 2- to 6-year-olds with autism, developmental disability or no developmental concerns. Executive functions include the ability to plan, manage complex or conflicting information, problem-solve and shift between different rules in different situations. By observing young children while they play hands-on tabletop games, Faja’s team is trying to find out: do kids with autism have problems with executive functioning early on, or do problems emerge later as a result of autism itself? The study is an extension of the ongoing GAMES project for 7- to 11-year-olds, in which children play video games designed to boost their executive functions. Faja is also looking to teach parents to use the games with their children at home.
  • Autism Biomarkers Consortium for Clinical Trials (ABC-CT), a multi-institution study that’s seeking objective, reliable measurements of social function and communication in people with autism. “Language, IQ and social assessments are not so sensitive when you’re looking for changes in autism symptoms, especially subtle ones,” says Faja. So her team is using physiologic measures — like EEGs to measure brain activity and eye-tracking technology to measure visual attention — and correlating them with behavioral and cognitive assessments. The ultimate goal is to validate a set of tools that can be used in clinical trials — and in day-to-day practice — to objectively measure and predict how children with ASD will respond to treatment.​
  • Competence in Romance and Understanding Sexual Health (CRUSH), a new study, will enroll young adults with autism and their parents. The goal is to develop curriculum around dating and sexual health that meets the needs of the ASD population, starting with interviews to determine their needs and interests. No evidence-based curricula currently exist for adults on the spectrum, says Faja.

Learn more about current and future projects in the Faja Lab.

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Mutant ferrets and kids with microcephaly shed light on brain evolution

ASPM, ferrets, microcephaly and brain evolution
Fawn Gracey illustration

Mouse brains are tiny and smooth. Ferret brains are larger and convoluted. And ferrets, members of the weasel family, could provide the missing link in understanding how we humans acquired our big brains.

Children with microcephaly, whose brains are abnormally small, have a part in the story too. Microcephaly is notorious for its link to the Zika virus, but it can also be caused by mutations in various genes. Some of these genes have been shown to be essential for growth of the cerebral cortex, the part of our brain that handles higher-order thinking.

Reporting in Nature today, a team led by Christopher A. Walsh, MD, PhD, of Boston Children’s Hospital and Byoung-Il Bae, PhD, at Yale University, inactivated the most common recessive microcephaly gene, ASPM, in ferrets. This replicated microcephaly and allowed the team to study what regulates brain size.

“I’m trained as a neurologist, and study kids with developmental brain diseases,” said Walsh in a press release from the Howard Hughes Medical Institute, which gave him a boost to his usual budget to support this work. “I never thought I’d be peering into the evolutionary history of humankind.”

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