Stories about: Diagnostics

Why is one twin sometimes smaller than the other? The answer may lie in the placenta

placental oxygen transport may help determine fetal size

When a baby is born small, it’s often chalked up to genetics or to maternal risk factors like poor nutrition or smoking. A study of twin pregnancies, published today in Scientific Reports, finds another factor that can be measured prentally: slower transport of oxygen from mother to baby across the placenta.

The study, part of the NIH-funded Human Placenta Project, is the first to make a direct connection between placental oxygen transport and birth outcomes. It relies on a new, noninvasive technique called Blood-Oxygenation-Level-Dependent (BOLD) MRI. Developed by P. Ellen Grant, MD, director of the Fetal-Neonatal Neuroimaging and Developmental Science Center at Boston Children’s Hospital and Elfar Adalsteinsson, PhD at MIT, it maps oxygen delivery across the placenta in real time.

“Until now, we had no way to look at regional placental function in vivo,” says Grant.

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Webchat to highlight what’s new in pediatric brain tumors

pediatric brain tumors, child MRI

Last September, the National Center for Health Statistics reported that brain tumors have overtaken the much more common leukemia as the leading cause of death from pediatric cancer. Although progress has been made and the promise of more progress is on the horizon, the cure rate for childhood brain tumors lags behind a number of other pediatric cancers.

As pediatric neuro-oncologist Peter Manley, MD, of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center told Live Science, new research on cancer genomics “is so impressive that my feeling is that we will continue to see a decline in deaths.”

To mark Brain Tumor Awareness Month, Mark Kieran, MD, PhD, clinical director of the Brain Tumor Center at Dana-Farber/Boston Children’s, will host a webchat on Monday, May 22 (3:30 p.m. ET). The live chat will highlight the latest research and treatments for pediatric brain tumors. Here’s a look back at some recent developments:

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Fast brain waves: A better biomarker for epilepsy

EEG and MEG detection of HFOs, fast brain waves associated with epilepsy
Localization of fast brain waves, called HFOs, with scalp EEG (left) and MEG (right). HFOs present a new biomarker for areas of the brain responsible for epileptic seizures.

In the U.S., about one in 100 people have some form of epilepsy. A third of those people have seizures that cannot be controlled with drugs, eventually requiring surgery to remove the area of their brain tissue that is triggering seizure activity.

“If you can identify and surgically remove the entire epileptogenic zone, you will have a patient who is seizure-free,” says Christos Papadelis, PhD, who leads the Boston Children’s Brain Dynamics Laboratory in the Division of Newborn Medicine and is an assistant professor in pediatrics at Harvard Medical School.

Even experts in this field were skeptical for years about the non-invasive detection of HFOs. But now, thanks to our study and other researchers’ work, these people are changing their minds. At present, however, these surgeries are not always successful. Current diagnostics lack the ability to determine precisely which parts of an individual’s brain are inducing his or her seizures, called the epileptogenic zone. In addition, robust biomarkers for the epileptogenic zone have been poorly established.

But now, a team at Boston Children’s Hospital is doing research to improve pre-surgical pinpointing of the brain’s epileptogenic zone. They are using a newly-established biomarker for epilepsy — fast brain waves called high-frequency oscillations (HFOs) — that can be detected non-invasively using scalp electroencephalography (EEG) and magnetoencephalography (MEG).

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A 30-minute screening test for dyslexia?

dyslexia screening test
A dyslexia screening app in development could flag children at risk as early as age 4, when interventions are most effective.

Ten to 12 percent of school-aged children have dyslexia. It’s typically diagnosed in second or third grade, only after a child has struggled unsuccessfully at reading. As Nadine Gaab, PhD, of Boston Children’s Hospital puts it, diagnosis is primarily based upon a “wait-to-fail-approach.” And that comes along with considerable psychological damage and stigma.

“Late diagnosis of dyslexia very often leads to low self-esteem, depression and antisocial behavior,” she says. A much better time to look for early signs of dyslexia would be kindergarten or first grade. With early intervention, many children can attain an average reading ability.

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Brain ‘connectome’ on EEG could help diagnose attentional disorders

EEG connectome could diagnose attentional disorders ADHD
EEGs shouldn’t just be for epilepsy, say these researchers.

Attention deficit disorder (ADD), with or without hyperactivity, affects up to 5 percent of the population, according to the DSM-5. It can be difficult to diagnose behaviorally, and coexisting conditions like autism spectrum disorder or mood disorders can mask it.

While recent MRI studies have indicated differences in the brains of people with ADD, the differences are too subtle and MRI too expensive to be a practical diagnostic measure. But new research suggests a role for an everyday, relatively cheap alternative: electroencephalography (EEG).

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A guide to market sizing for healthcare innovators

market sizing healthcare innovation

Second in a series of Innovator’s Roadmap posts from Boston Children’s Hospital’s Innovation & Digital Health Accelerator (IDHA). Matt Murphy is Innovation Lead at IDHA.

We recently published some helpful tips on how to create a business model that accelerates and operationalizes a healthcare innovation. But a business model — and the unique value proposition you’ll offer to your users or customers — cannot exist on its own. It must serve a specific market or population.

Who are your users? And how many potential users would your product serve? Market sizing will enable you to answer these questions and others as you determine the financial opportunity and economic sustainability of your innovation.

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Pediatric brain tumor genomics arrives, as the need for new therapies grows

Allison was the first pediatric brain tumor patient in the world to receive a treatment targeting the BRAF mutation, originally developed to treat adults with melanoma who have the same mutation.

Precision cancer medicine – the vision of tailoring diagnosis and treatments to a tumor’s genetic susceptibilities – is now ready to impact the care of a majority of children with brain tumors. The molecular “signatures” of brain tumors were first characterized in 2002 in a study led by researchers at Boston Children’s Hospital. This has led to the creation of new tumor subgroups and changes in cancer treatment: For example, a current clinical trial is testing the anti-melanoma drug dabrafenib in a variety of brain tumors with the same BRAF mutation – including metastatic anaplastic astrocytoma and low-grade glioma.

In the largest study of its kind to date, investigators at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center genetically tested more than 200 brain tumor samples. They found that many had genetic irregularities that could guide treatment, in some cases with approved drugs or agents being evaluated in clinical trials.

The findings, reported online today by the journal Neuro-Oncology, also demonstrate that testing pediatric brain tumor tissue for genetic abnormalities is clinically feasible.

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DNA methylation patterns linked to obesity and its complications

DNA methylation obesity
(Methylated DNA: Christoph Bock, Max Planck Institute for Informatics/Wikimedia Commons)

Why do some people seem to be prone to weight gain? Obesity has been linked to a variety of genetic changes, yet these differences don’t fully explain the variation in people’s body mass index (BMI). “Even though we’ve genetically sequenced more and more people at greater and greater breadth and depth, we haven’t completely explained who develops obesity and why,” says Michael Mendelson, MD, ScM, a pediatric cardiologist with Boston Children’s Hospital’s Preventive Cardiology Program.

Nor do prior studies explain why some overweight people develop health complications from obesity, like cholesterol problems, diabetes, hypertension and heart disease, while others don’t. Now comes strong evidence that an important factor is DNA methylation — a so-called epigenetic modification that influences whether genes are turned on or off.

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The future of cardiac MRI: 3-D cine

A 3-D motion-capture MRI of the heart

The heart is a dynamic, beating organ, and until now it has been challenging to fully capture its complexity by magnetic resonance imaging (MRI). In an ideal world, doctors could create a 3-D visual representation of each patient’s unique heart and watch as it pumps, moving through each phase of the cardiac cycle. Andrew Powell, MD, Chief of the Division of Cardiac Imaging at Boston Children’s Hospital, and his physicist colleague Mehdi Hedjazi Moghari, PhD, have taken steps toward realizing this vision.

The standard cardiac MRI includes multiple 2-D image slices stacked next to each other that must be carefully positioned  by the MRI technologist based on a patient’s anatomy. Planning the location and angle for the slices requires a highly-knowledgeable operator and takes time.

Powell and Moghari are working on a new MRI-based technology that can produce moving 3-D images of the heart. It allows cardiologists and cardiac surgeons to see a patient’s heart from any angle and observe its movement throughout the entire cardiac cycle.

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If I have the mutation, will I get the disease? New research looks at genetic ‘penetrance’

genetic penetranceRecently announced preliminary results of the BabySeq study included pathogenic or “likely pathogenic” variants linked to heart conditions in three apparently healthy babies. Two are being followed at Boston Children’s Hospital and have had cardiac testing. But is this testing necessary, and are these infants truly at risk? It’s too soon to tell.

Then, last week, a report from the Mayo Clinic raised an alarm about overzealous use of genetic testing in healthy individuals. After a 13-year-old boy died from a heart syndrome, about two dozen family members had genetic testing. All tested positive for variants in a gene linked to long-QT syndrome and were diagnosed with the disease. Yet none had cardiac symptoms, and only one had a positive EKG at any point — the boy’s brother, who had a defibrillator implanted. When the Mayo team reanalyzed the test results using a more up-to-date genetic database, they concluded the variant is harmless.

And this week, in Science Translational Medicine, researchers at Brigham and Women’s Hospital, Boston Children’s and Massachusetts General Hospital address the question: If people carry a genetic mutation linked to a condition, what are the chances they will develop that condition over time? As part of the genomes2people project, the researchers tested participants in two long-term population studies — the Framingham Heart Study and the Jackson Heart Study — for 56 genes representing 24 hereditary cancer and cardiac syndromes. They did not know the participants’ actual health status. As it turned out, carrying a mutation increased risk for the related disease 4.7-fold in African Americans and 6.4-fold in European Americans, who had longer follow-up. This was true regardless of family history.

Vector sat down with Nina Gold, MD, a senior resident in Pediatrics and Medical Genetics at Boston Children’s, for her perspective. Gold is a first author on this week’s report.

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