Giving patients the right kind of immune cells could curb their IBD, research suggests.
Inflammatory bowel disease (IBD) is miserable for anyone, but when it strikes a child under age 5, it’s much more severe, usually causing bloody diarrhea, wrenching abdominal pain and stunted growth. Early-onset IBD is rare, but on the rise: For reasons unknown, its incidence is increasing by about 5 percent per year in some parts of the world.
A recently identified form of early-onset IBD shows up within months of birth, causing severe inflammation in the large intestine and abscesses around the anus. Recently linked to genetic mutations in the cellular receptor for a signaling protein, interleukin-10 (IL-10), it can also lead to lymphoma later in life.
As with all early-onset IBD, IL-10-receptor deficiency has no good treatment. A bone marrow transplant is actually curative, but carries many risks, especially in infants.
“We’ve been trying to understand why IBD in these children is so severe and presents so early,” says Dror Shouval, MD, a pediatric gastroenterologist at Boston Children’s Hospital and a fellow in the lab of Scott Snapper, MD, PhD. The beginnings of such an understanding—detailed recently in the journal Immunity—could lead to a new treatment approach for this and perhaps other kinds of early-onset IBD. Full story »
Preliminary findings suggest that steroid treatment could improve language and behavior in children with regressive ASD.
In as many as a third of cases of autism spectrum disorder (ASD), children’s language and social skills develop normally at first. Then, between 1 and 2 ½ years of age, they begin to regress, losing words and retreating from interactions with parents—often abruptly. There has been some anecdotal evidence that steroid treatment can help these children, and a small retrospective study agrees—finding improved language and behavior and reversal of a characteristic abnormality in the language processing area of their brains.
Researchers led by Frank H. Duffy, MD, of the Epilepsy Center at Boston Children’s Hospital, looked back at 20 children 3 to 5 years old with documented regressive ASD who had received steroid therapy (prednisolone) under a neurologist’s supervision, generally starting several months after their regression was noted. For comparison, the team also reviewed data from 24 similar autistic children who did not receive steroids. Full story »
Rather than a single drug, cocktail of approaches is most likely to successfully preserve muscle.
It’s been 28 years since a missing dystrophin protein was found to be the cause of Duchenne muscular dystrophy (DMD), a disease affecting mostly boys in which muscle progressively deteriorates. Dystrophin helps maintain the structure of muscle cells; without it, muscles weaken and suffer progressive damage, forcing boys into wheelchairs and onto respirators.
Today, a variety of approaches that attempt to either restore dystrophin or compensate for its loss are in the therapeutic pipeline.
“We’re at the point where lots of things are going into clinical trials,” says Louis Kunkel, PhD, who is credited with identifying dystrophin in 1987. “I call it the decade of therapy.” Full story »
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. Full story »
(Photo: Crossroads Foundation https://creativecommons.org/licenses/by/2.0/legalcode)
The United Nations global Millennium Development Goals (MDGs)
for 2015 aim to cut mortality among children younger than 5 by two-thirds. As 2015 approaches, there’s a sense of hope
: By 2012, the 1990 base annual figure of 12 million was nearly halved, in part through curbing infectious diseases
However, two under-recognized, highly preventable chronic conditions—spina bifida and hydrocephalus—have not declined in low- and middle-income countries. Each year, there are an estimated 200,000 new cases of infant hydrocephalus in sub-Saharan Africa alone, and 100,000 neural tube defects in India alone. As other causes of death and disability recede, data suggest that spina bifida and hydrocephalus are gaining a larger share of mortality in young children.
A multi-institution conference at Boston Children’s Hospital on April 11 sounded a global call to action, convening a mix of surgeons, pediatric neurologists, international patient advocacy groups, food fortification proponents, health economists, obstetricians, neuroscientists and others. Many innovative approaches are being explored, including two that caught Vector’s eye. Full story »
Cameron with Galina Lipton, MD
By the time Cameron Shearing arrived at the South Shore Hospital Emergency Department (ED) during a December snowstorm, he wasn’t breathing. He didn’t have much time. The two-year-old had aspirated a chocolate-covered pretzel, which sent tiny bits of material into his lungs.
The odds of a good outcome were not high. Pretzel is one of the worst foods to aspirate for two reasons: The small pieces can block multiple small airways, and the salt, which is very irritating, causes a lot of inflammation.
“Cameron was one of the sickest patients I ever cared for as an emergency physician. I did everything I could within my scope of practice, but he needed the tools and expertise of pediatric subspecialists,” recalls Galina Lipton, MD, from Boston Children’s Department of Emergency Medicine, who was staffing the South Shore Hospital emergency room that evening. Full story »
A clinician's-eye view of a patient with spinal muscular atrophy during a telemedicine visit.
The jury is still out on telemedicine. Proponents and many patients appreciate its ability to deliver virtual patient care and to extend the reach of experts beyond the brick-and-mortar setting of a hospital. But the real question about telemedicine is: Does it make it difference? Does is it improve care and if so, in what circumstances?
TeleCAPE, a small pilot project at Boston Children’s Hospital, inches the dial toward “yes” for some patients—in particular, home-ventilated patients.
Home-ventilated patients require an inordinate amount of health care resources for even minor conditions. Costs for a simple urinary tract or viral respiratory infection that might be managed without hospitalization can reach up to $83,000 because the child’s complex medical needs require ICU admission. Full story »
Robert MacDougall is clinical medical physicist for Boston Children’s Hospital Department of Radiology. Michael Callahan, MD, is a radiologist in Boston Children’s Department of Radiology and a member of the steering committee for the Alliance for Radiation Safety in Pediatric Imaging.
A recent opinion piece published in the New York Times, titled “We Are Giving Ourselves Cancer” (Op-Ed, Jan. 31), has provoked fear and anxiety in patients and parents over the use of computed tomography (CT) scans. This op-ed is the latest in a series of lay press articles to focus on the potential harm of radiation in medical imaging.
While the authors raise several important points, they fail to provide context and acknowledge the benefits of CT imaging, including the elimination of many unnecessary surgeries and improved diagnosis of cancer and other serious health conditions. This unbalanced view potentially presents a real and immediate risk to patients, who may forego CT exams that could improve their care because of concerns related to radiation exposure.
The relationship between cancer risk and radiation exposure is not well understood. Estimation of future cancers in a large population is not based on sound science: The principal data source—studies of survivors of the atomic bomb explosions in Japan—does not translate well to medical radiation and can be misused to create sensationalistic estimates of future cancer incidence and deaths.
In a policy statement, the American Association of Physicists in Medicine explains: “Discussion of risks related to radiation dose from medical imaging procedures should always be accompanied by acknowledgement of the potential benefits the procedure provides. Risks of medical imaging at effective doses below 50 mSv for single procedures … are too low to be detectable and may be nonexistent.” The vast majority of routine CT scans fall well below this level.
Nonetheless, once an exam is ordered, it must be performed in the safest way possible. Full story »
The butterfly effect is defined as “the sensitive dependence on initial conditions, where a small change at one place in a deterministic nonlinear system can result in large differences to a later state.” In medicine, the identification of a rare disease or a genetic mutation may provide insights that spread well beyond the initial discovery.
And in genetics, scientists are learning just how widespread the effects are for mutations in one gene: filaminA (FLNA).
FLNA is a common cause of periventricular nodular heterotopia (PVNH), a disorder of neuronal migration during brain development. The syndrome was first described by the late Peter Huttenlocher, MD, and the gene was identified by Christopher Walsh, MD, PhD, of Boston Children’s Hospital.
In normal brain development, neurons form in the periventricular region, located around fluid-filled ventricles near the brain’s center, then migrate outward to form six onion-like layers. In PVNH, some neurons fail to migrate to their proper position and instead form clumps of gray matter around the ventricles. Full story »
A project that set out to build better shunts ended with potential ways to help kids avoid shunts altogether.
Shunts often are surgically placed in the brains of infants with hydrocephalus to drain excess cerebrospinal fluid. Unfortunately, these devices eventually fail, and the problem is hard to detect until the child shows neurologic symptoms. CT and MRI scans may then be performed to check for a blockage of flow—followed by urgent neurosurgery if the shunt has failed.
Early detection of shunt failure was the problem pitched last fall at Hacking Pediatrics in Boston. Two bioengineers, Christopher Lee, a PhD student at Harvard-MIT Health Sciences and Technology program, and Babak Movassaghi, PhD, an MBA candidate at MIT Sloan, took the bait.
“We heard that parents would not take vacations in areas without an experienced neurosurgeon around,” says Movassaghi, a former Philips Healthcare engineer with 32 patents in cardiology and electrophysiology. “We were intrigued to solve that.” Full story »