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.
During the NICU rotation of her clinical training, Stella Kourembanas, MD, sat at the bedside of newborn babies with hypoxia. The newborns weren’t getting enough oxygen and were suffering from pulmonary hypertension — abnormally elevated blood pressure in the lung’s blood vessels. What was triggering these patients’ disease?
Kourembanas decided her fellowship research would focus on determining how hypoxia triggers the blood vessels to become abnormal. She built her career, showing how hypoxia affects the endothelial cells that line blood vessels: what genes are turned on, how they regulate interaction between cells and how that affects the lung vasculature. …
Preterm infants in neonatal intensive care units, particularly those with catheters and intravenous lines, are at high risk for bacteremia—bloodstream infections that can cause lasting brain injury. A new study may change how people think about these infections, suggesting that inflammation is as important to address as the infection itself.
“There has been a lot of indirect epidemiologic evidence for a link between bacteremia, inflammation and cerebral injury, but it showed only a correlation, not causation,” says Levy. “Here we demonstrate directly in an animal model that inflammation alone can cause brain injury in newborns with bacteremia, even without entry of the bacteria to the central nervous system.” …
The caffeine in coffee might help get you going in the morning, but for premature babies it can be lifesaving. For more than a decade neonatologists have routinely given premature newborns caffeine as a respiratory stimulant, helping their immature lungs and brains remember to breathe and reducing episodes of intermittent hypoxia (IH)—short, repetitive drops in blood oxygen levels.
Typically, babies are weaned off caffeine once they’re developmentally mature enough to breathe normally without help, usually around 34 weeks’ gestational age. “It’s at about that age that most babies stop having clinically obvious hypoxic spells,” explains Boston Children’s Hospital pulmonologist and neonatologist Lawrence Rhein, MD. “But the question has been, are there continued but less obvious episodes that we could and should be preventing? And can caffeine play a role in doing so?”
It’s an important question to ask. While no single IH episode has much effect, lack of oxygen over days or weeks can affect a baby’s lungs, brain and heart, and fuel inflammation within her tissues and organs—all of which can have long-term developmental impact.
Rhein and colleagues from 15 other hospitals across the U.S.—together comprising the Caffeine Pilot Study Group—came together to probe the question. Their answer: pour the baby another cup. …
Experience suggests that magnetic resonance imaging (MRI) and advanced MR techniques such as spectroscopy and diffusion imaging offer substantial benefits when diagnosing problems in premature babies. However, today’s MR systems poses significant logistical barriers to imaging these infants. We have been working to change that.
MRI provides an unparalleled ability to visualize anatomy without the hazards of ionizing radiation. Yet premature and sick babies in neonatal intensive care units (NICUs) are usually too delicate to leave the unit. The few babies who receive MRI today must be accompanied by NICU staff during transport to and from the Radiology Department. This process is often a multi-hour ordeal and reduces the staff available to care for other babies in the NICU. Moreover, infants must be imaged in an adult-sized MRI scanner …
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.
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’re in the Neonatal Intensive Care Unit at South Shore Hospital. Six tiny, swaddled preemies are ready to be examined, their eyes numbed and their pupils dilated with special drops.
Gretchen Hamn, NNP, and medical assistant Margie Young go from isolette to isolette. Young tends to the first baby and gently positions him for his exam. Hamn pulls over a cart and extends a kind of hose with a camera at the tip. This she places directly on each of the baby’s eyes, taking a digital video of his retinas. …
Sepsis, or bacterial infection of the bloodstream, is a grave threat to premature infants in the neonatal intensive care unit (NICU) who have catheters and intravenous lines. Even when antibiotics clear the infection itself, the inflammation that it causes can do just as much damage. Not only can sepsis and the resulting inflammation interfere with fragile preemies’ ability to gain weight, but a growing literature suggests that they can impair brain development.
Preventive measures can now avoid many cases of sepsis, but those that slip through can be hard to detect in newborns.
“Newborns can’t speak, and they have unique immune systems, so they tend not to have fevers or show clinical signs,” explains Ofer Levy, MD, PhD, of the Division of Infectious Diseases at Boston Children’s Hospital. “There may be irregular breathing or increased heart rate, or the baby may be acting a little ‘off,’ but these signs are pretty nonspecific. There’s a tremendous need for better diagnostics in this field.”