When the 1-year-old boy arrived from overseas, he was relying on total parenteral nutrition — a way of bypassing the digestive system to provide nutrients and calories completely intravenously — to survive. From the time of his birth, he had experienced unexplainable diarrhea. Answers were desperately needed.
Sequencing his genes in search of clues, neonatologists and collaborators at the Manton Center for Orphan Disease Research at Boston Children’s Hospital identified a new gene mutation responsible for chronic congenital diarrhea — even finding a similar mutation in two other children as well.
Using patient-derived intestinal organoids in the laboratory, the team discovered that the newly-identified gene mutation, WNT2B, appears to stifle intestinal stem cells’ normal function and growth. The findings were published in the American Journal of Human Genetics.
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). …
In 1962, the Harvard School of Public Health made a critical loan to Boston Children’s Hospital: the Harvard hyperbaric chamber. It established a new approach to pediatric heart surgery at Boston Children’s.
For many children — including a premature infant named Janet, born in 1964 with a heart murmur — the hyperbaric chamber would prove to be life-saving.
At that time, before the invention of the heart-lung bypass machine, hyperbaric chambers offered a way to operate on infants more safely. That’s because hyperbaric oxygenation, coupled with the effects of increased pressure on the respiratory system, seemed to give infants a better chance of surviving heart surgery. …
Cerebral palsy (CP) is the most common motor disability of childhood. The brain injury causing CP disrupts touch perception, a key component of motor function. In this brain image from a child with CP (click to enlarge), the blue lines show nerve fibers going to the sensory cortex. The colored cubes at the top represent the parts of the sensory cortex receiving touch signals from the thumb (red cube), middle finger (blue) and little finger (green). An injury in the right side of the brain (dark area) has reduced the number of nerve fibers on that side, reducing touch sensation in the left hand and resulting in weakness.
Twenty or thirty years ago, no one would have expected babies born extremely prematurely—between 23 and 25 weeks’ gestation, considered the edge of viability—to survive long enough for their performance as elementary schoolers to be an issue.
But times change. Treatments like surfactants and prenatal steroids, along with improvements in ventilators and nutrition, have often enabled extremely premature children to survive.
The question is now one of long-term development. How will a child born at the edge of viability do—physically, cognitively, intellectually—in the long run? What impairments might he or she face, and how severe will they be?
The typical approach to answering those questions is to carry out a series of physical and cognitive assessments when the child is around 18 to 22 months old. But, as Mandy Brown Belfort, MD, MPH—one of Boston Children’s Hospital’s neonatologists—notes, assessments at that age may not tell you much about how the child will do later on.
There’s something different about newborns’ blood. In babies less than 28 days of age, the immune system still hibernates—making newborns more susceptible to life-threatening infections and less responsive to many vaccines. Ofer Levy, MD, PhD, and his colleagues at Boston Children’s Hospital have done extensive work toward understanding the newborn immune system, and now they’ve uncovered a mechanism to help explain why the system is so weak—and how it might be strengthened.
“If we can understand the molecular mechanisms causing the immune system to be different when we’re very young or very old, we can leverage that knowledge to develop new treatments,” says Levy. …
Pick up a piece of IV tubing (should you happen to have one nearby) and run your hand down the length of it. The surface feels pretty smooth, yes?
From the perspective of bacteria and platelets, that same surface is pockmarked with nooks and crannies where they can stick, aggregate and start to form blood clots (in the case of platelets) or hard-to-combat biofilms (in the case of bacteria).
That’s a problem for hospital care. Contaminated central lines (IV lines threaded into deep veins for long periods of time) cause upwards of 41,000 costly and potentially fatal central line-associated bloodstream infections (CLABSIs) in pediatric and adult patients in U.S. hospitals every year. And blood clots can preclude patients, including premature babies, from receiving new lung-protecting treatments because they can’t tolerate anticoagulants.
In the United States, we rarely worry about newborn babies getting dangerously cold, but in poorer countries the basic provision of warmth can be extremely challenging. Although the World Health Organization (WHO) considers newborn thermal care a critical part of neonatal care, hypothermia remains a leading cause of sickness and death globally.
Even in places with warm climates such as sub-Saharan Africa and South Asia, babies can quickly lose heat, and how hypothermia in newborns is treated reveals a dramatic contrast with the developed world.
Family lore has it that when I was born, I had to spend a couple of extra days in the hospital for jaundice, the distinctive yellow tint to the skin that shows that a baby’s liver isn’t fully up and running yet. For me—and most of the newborns that develop jaundice every year in the developed world—the treatment was simple: spending some time lying under bright blue lights (aka phototherapy).
Note that I said “developed world.” The story in the developing world is quite different. Sometimes the nearest hospital with phototherapy equipment is hours’ or days’ travel away. Even though it’s simple, phototherapy is power intensive; no power, no treatment.
And untreated jaundice can have devastating consequences. The yellow pigment, called bilirubin, can accumulate in the brain and cause permanent brain damage or death.
The best solution for regions with few resources would have to be small and portable, run on batteries or other off-grid power sources, cost little, but still be safe and deliver the right wavelength and intensity of light. This is where Donna Brezinski, MD, wants to make a difference. And the Bili-Hut is her answer. …
“We know very little about what’s happening in the developing brain in three dimensions,” says Emi Takahashi, PhD, a researcher in the Fetal-Neonatal Neuroimaging & Developmental Science Center (FNNDSC) at Boston Children’s Hospital. “With histology techniques, we can achieve a two-dimensional view over small areas, but it’s hard to know which fiber bundles are growing in which ways during different stages of development in the whole brain.”
But new MRI-based technologies are quickly closing that knowledge gap, giving us our first high-resolution peek into how the developing brain wires itself up.
Using something called high angular resolution diffusion imaging (HARDI) MRI, Takahashi and her colleagues (including neuroradiologist and FNNDSC director P. Ellen Grant, MD) can trace the three-dimensional pathways within the growing brain via stunning images like these: