Author: Nancy Fliesler

When antibiotics fail: A potential new angle on severe bacterial infection and sepsis

bacterial infection sepsisBacterial infections that don’t respond to antibiotics are of rising concern. And so is sepsis — the immune system’s last-ditch, failed attack on infection that ends up being lethal itself. Sepsis is the largest killer of newborns and children worldwide and, in the U.S. alone, kills a quarter of a million people each year. Like antibiotic-resistant infections, it has no good treatment.

Reporting this week in Nature, scientists in Boston Children’s Hospital’s Program in Cellular and Molecular Medicine (PCMM) describe new potential avenues for controlling both sepsis and the runaway bacterial infections that provoke it.

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Mom-entrepreneur forms gene therapy company to tackle Sanfilippo syndrome

Karen and Ornella Aiach Sanfilippo gene therapy

Sanfilippo syndrome A is a neurodegenerative condition caused by a genetic error in metabolism: because of a missing enzyme, long-chained sugar molecules cannot be broken down. Toxic substrates accumulate in cells, causing a rapid cognitive decline and, later, motor decline. Most affected children die in their teens or earlier.

There is no treatment, and when Karen Aiach’s daughter Ornella was diagnosed with Sanfilippo syndrome A, no companies were even working on the disease.

As a mother, Aiach could not accept that.

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3D-printed models assist complex brain surgery for encephalocele

Encephalocele 3D printing

At five months’ gestation, Bentley Yoder was given little chance to live. A routine 20-week “gender reveal” ultrasound showed that a large portion of his brain was growing outside of his skull, a malformation known as an encephalocele. But he was moving and kicking and had a strong heartbeat, so his parents, Sierra and Dustin, carried on with the pregnancy.

Born through a normal vaginal delivery (the doctors felt that a C-section would interfere with Sierra’s grieving process), Bentley surprised everyone by thriving and meeting most of his baby milestones.

But the large protuberance on his head was holding him back. It steadily got larger, filling with cerebrospinal fluid. Bentley couldn’t hold his head up for more than a few seconds.

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News Notes: Pediatric science roundup

A quick look at recent research Vector finds noteworthy.

Tracking infants’ microbiomes

cute microbes-shutterstock_317080235-croppedMicrobiome studies are blooming as rapidly as bacteria in an immunocompromised host. But few studies have been done in children, whose microbiomes are actively forming and vulnerable to outside influences. Two studies in Science Translational Medicine on June 15 tracked infants’ gut microbiomes prospectively over time. The first, led by researchers at the Broad Institute and Massachusetts General Hospital, analyzed DNA from monthly stool samples from 39 Finnish infants, starting at 2 months of age. Over the next three years, 20 of the children received at least one course of antibiotics. Those who were repeatedly dosed had fewer “good” bacteria, including microbes important in training the immune system. Overall, their microbiomes were less diverse and less stable, and their gut microbes had more antibiotic resistance genes, some of which lingered even after antibiotic treatment. Delivery mode (cesarean vs. vaginal) also affected microbial diversity. A second study at NYU Langone Medical Center tracked 43 U.S. infants for two years and similarly found disturbances in microbiome development associated with antibiotic treatment, delivery by cesarean section and formula feeding versus breastfeeding.

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Faja lab focuses on biomarkers and executive functioning in autism

What makes children with autism tick, and how can we help them function better socially? That’s the focus of research in the lab Susan Faja, PhD, at Boston Children’s Hospital.

The GAMES project seeks to build social skills in children with autism spectrum disorder (ASD) by building cognitive skills, specifically executive functioning. Through computer games and coaching, Faja hopes strengthen kids’ ability to plan, inhibit behavior, manage complex or conflicting information and shift flexibly between different rules or situations. She believes executive function training will help children with ASD better understand other people’s perspectives and act more appropriately in social situations.

Faja is also interested in biomarkers that indicate whether interventions are working, including brain EEG recordings and eye tracking. She’s using these tools to learn what visual information kids with ASD are attending to and how their brains respond to social information.

“I think the thing that really makes my lab unique is that we are looking at both neuroscience and intervention at the same time,” says Faja. “We take information from the neuroscience literature about how the brain develops, and we look for ways to apply that to developing new treatments.”

Learn more about Faja’s ongoing studies and how children can enroll.

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Tool helps interpret subtle DNA variants from genome-wide association studies

Genome-wide association studies are huge undertakings that compare the genomes of large populations. They can turn up thousands to tens of thousands of genetic variants associated with disease. But which GWAS variants really matter?

That question becomes exponentially harder when the variants lie in the vast stretches of DNA that don’t encode proteins, but instead have regulatory functions.

“It’s hard to know which hits are causal hits, and which are just going along for the ride,” says Vijay Sankaran, MD, PhD, a pediatric hematologist/oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and an associate member of the Broad Institute.

Reporting in Cell, Sankaran’s team and two other groups at the Broad Institute describe a new tool that can looks at hundreds of thousands of genetic elements at once to pinpoint variants that truly affect gene expression or function. Called the massively parallel reporter assay (MPRA), it could help reveal subtle genetic influences on diseases and traits.

In Sankaran’s case, the MPRA is helping him understand how common variants contribute to blood disorders in children. “Most of the common variation is just tuning genetic function,” he says. “Just slightly, not turning it on or off, but actually just tuning it like a dimmer switch.”

The above video explains how the assay works – via DNA “barcodes.” Read more on the Broad Institute’s blog, Broad Minded.

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Detecting shunt failure in hydrocephalus without imaging or surgery: ShuntCheck

shunts hydrocephalus
Antonio helped test a device that can tell whether a shunt is still working. (Photos: Katherine Cohen)

Antonio Venus-Reeve, 14, had his first shunt surgery for hydrocephalus when he was 2½ months old. Born at 25 weeks’ gestation, weighing less than two pounds, he had a serious brain bleed seven days later.

As Antonio’s head began to swell with excess fluid, neurologists at Boston Children’s Hospital told his mother, Joanne Venus-Williams, that Antonio probably would not be able to walk, talk or develop major motor skills. “Neurosurgery got involved and the team did daily spinal taps to draw out the fluid in his brain,” says Venus-Williams. “They were hoping he wouldn’t need a shunt, but we got to the point where we knew it was the way to go.”

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Why can’t a walker be more like an all-terrain vehicle?

Child innovator Sadie with Amazing Curb Climber
Photo: Patrick McCallum

Sadie McCallum’s own life led her to become an inventor. She’s 9, has cerebral palsy, for which she’s seen at Boston Children’s Hospital, and relies on a walker to get around. “It would be SO much easier if my walker was more like an all-terrain vehicle and could go over curbs or stairs,” she says.

This year, in third grade, Sadie took part in her school’s annual Invention Convention and designed and built the Amazing Curb Climber. She sketched the design, and her family helped her with the planning, drilling, sawing and assembly. The end product combined two of Sadie’s old walkers and six lawn mower wheels (three on either side) to create an all-terrain design, plus two smaller wheels in back. Her dad helped build a portable curb for testing and demo purposes.

The invention won first place for Best Use of a Wheel and second place for Kids’ Choice. Sadie went on to the regional Invention Convention, where she took the first place for the Special Needs Award as well as the Microsoft Technology Award.

Read Sadie’s post on our sister blog, Thriving.

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Plugging gaps in Zika surveillance with online news reports

Zika surveillance
Zika virus disease reports as of May 31, 2016 (click to enlarge)

As the Zika epidemic continues to unfold, most affected countries are flying blind: they have limited government disease surveillance systems in place to track new cases. That leaves public health officials unable to estimate how fast Zika is spreading, where the hotspots are and when the outbreak will peak — much less contain it and prepare for cases of microcephaly and Guillain-Barré syndrome, both now presumed to be caused by the Zika virus.

“One of the things we really struggled with in the early days of Zika was a lack of official data sources,” says research fellow Maia Majumder, MPH, of the Computational Epidemiology Group at Boston Children’s Hospital. “Surveillance has been really lagging. When we don’t know how many cases there are day to day, week to week, it’s really hard to characterize how bad an outbreak is.”

A study this week led by Majumder suggests a readily available data source for estimating actual case counts on the ground: online local news reports, adjusted using data from Google search trends.

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Moving one step closer to smartphone-like, interoperable EHR apps

Medical app buttons croppedToday, most people’s clinical records remain siloed at a single hospital or health network. For the most part, health apps can’t tap into these data, nor can medicine learn from them. Also, most electronic health records (EHRs) are unable to import the biometric data people are collecting from their own devices, much less interpret them.

In 2009, Kenneth Mandl, MD, MPH, and Isaac Kohane, MD, PhD, of Boston Children’s Hospital published a manifesto in The New England Journal of Medicine calling for health care information systems to have iPhone functionality. This would entail several key attributes: liquidity of data, modularity of applications, accommodation of both open-source and closed-source software through open standards, and the ability to support diverse applications.

In short, they envisioned a “plug and play” health IT platform.

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