World Aids Day, Be My Sugar Award, Puberty and Bone Density, Stents vs. Shunts

This first of December, we’re recognizing World Aids Day by sharing the latest research from Children’s Hospital of Philadelphia investigators who partnered with the University of Pennsylvania, the University of Botswana, and the Botswana Ministry of Health through the Botswana-UPenn partnership, in order to address sub-Saharan Africa’s HIV/AIDS epidemic. Alongside their findings published last week, our news roundup also includes special congratulations to Diva D. De León-Crutchlow, MD, MSCE, on a “sweet” new award from Congenital Hyperinsulinism International, and novel research findings from our investigators who study cardiology, genetics, and puberty.

What Influences Pneumonia Outcomes for HIV-Exposed Children?

This year in sub-Saharan Africa, roughly 1.2 million babies will be born to mothers infected with human immunodeficiency (HIV) virus. Over a million of these exposed infants will not acquire HIV but still have a mortality rate that is twice that of unexposed children whose mothers do not have HIV. Most will die from common infections, including pneumonia, before they reach 2 years old. To address these tragic statistics, researchers at CHOP conducted a study to determine what factors, such as low birthweight, non-breastfeeding, malnutrition, exposure to combination antiretroviral therapy in utero, or pneumonia severity, acted as mediators for the poor pneumonia outcomes of HIV exposed but uninfected children.

The research team conducted a cohort study of 352 HIV-uninfected children, 1 to 23 months old and with clinically defined pneumonia, who were recruited at a hospital in Gaborone, Botswana. Two hundred forty-five of the children were unexposed, while 107 were exposed but uninfected. With the primary outcome defined as treatment failure at 48 hours, the researchers found that children exposed but uninfected by HIV had worse pneumonia outcomes than those who were not exposed at all. However, non-breastfeeding mediated nearly half of the effect of HIV exposure on pneumonia mortality, contributing evidence to the benefits of breastfeeding for HIV-exposed but uninfected children.

Interested to learn more? Read the study, published in the Journal of the Pediatric Infectious Diseases Society Nov. 20 online, or check out a summary from Clinical Futures.

Dr. De León-Crutchlow Receives ‘Be My Sugar’ Award for Medical Excellence

Late-night TV celebrity Conan O’Brien hosted Congenital Hyperinsulinism International’s fourth annual “Sugar Soiree” in New York City Nov. 19 — a very sweet event that honored our own Dr. De León-Crutchlow, pediatric endocrinologist and director of the Congenital Hyperinsulinism Center at CHOP. Dr. De León-Crutchlow received the organization’s “Be My Sugar Award for Medical Excellence” for her robust research efforts that help to advance treatments for hyperinsulinism (HI), a rare and life-threatening disorder that one in 25,000 to 50,000 babies are born with.

HI occurs when insulin cells in the pancreas, known as beta cells, produce too much insulin. This excess results in dangerously low blood sugar levels. When severe or prolonged, low blood sugar can result in seizures, brain damage, and death. We are incredibly proud of Dr. De León-Crutchlow’s contributions to the field of HI as a physician-scientist and current director of an active NIH-funded research program. Along with treating hundreds of patients with HI across the world, Dr. De León-Crutchlow conducts research on improving beta cell disorders like HI, in order to develop new and effective therapies.

“It is an honor to receive such a distinction,” stated Dr. De León-Crutchlow in a CHOP press release. “It is so important that children and families affected by HI receive the care they need. It is an honor to treat these children and extremely rewarding to know that, along with my multidisciplinary team at CHOP, we are working on treatment options to reduce brain damage and death.”

Learn more in the press release.

Genetics of Late Puberty Linked to Low Bone Density

A later-than-average start to puberty due to a person’s genetic makeup can cause lower bone mineral density in childhood or adulthood, according to new research co-led by scientists at CHOP. While late puberty has been linked to low bone density in past research, the investigators are the first to analyze the link between genetic determinants of puberty timing in particular. Because both late puberty and low bone density can increase the risk for osteoporosis and bone fractures, the findings highlight the importance of building strong bones in the teen and late adolescent years.

In the study, published in the Journal of Bone and Mineral Research, the research team used data from the Bone Mineral Density in Childhood Study (BMDCS) and a “genetic risk score” tool, which allowed them to study hundreds of genetic variants associated with later puberty in children and look for associations with bone mineral density measurements. The BMDCS gathered bone and growth measurements from over 2,000 healthy children, adolescents, and young adults during annual visits between 2002 and 2010.

The study team found that for both boys and girls, the genetic risk score for late puberty was associated with lower bone mineral density in both a longitudinal cohort of 933 individuals (who each had at least seven assessments) and in a cross-sectional cohort of 486 individuals. They located the lowest bone density in the lower back and hip bones. In another analysis for the study, the researchers also found that later puberty caused lower bone mineral density in adult men and women as well as adolescent girls.

The findings complement previous studies from CHOP researchers using the BMDCS, including one that discovered bone mineral growth continues even after teenagers attain their adult height, and another that found exercise helps to build strong bones even when a child has a genetic risk for fragile ones.

“Now that we are aware of the risks to lifelong bone health if someone is genetically predisposed to later puberty, we can work on strategies such as promoting weight-bearing physical activity, to optimize bone density during skeletal development,” said Babette Zemel, PhD, director of the Bionutrition Core Laboratory at CHOP, who co-led the study.

Read more about the new study in the press release.

Shunts vs. Stents: Study Compares Ways to Stabilize Blood Flow in Infants With Heart Disease

When a baby is born with certain forms of heart disease, doctors must decide between two procedures to deliver a steady stream of blood to the infant’s lungs: the use of a shunt or an implanted stent. Maintaining blood flow is essential for the baby to survive until surgeons can perform a more definitive operation. In a new Circulation study led by Andrew C. Glatz, MD, MSCE, pediatric cardiologist at CHOP, a research team compared the two procedures through a retrospective cohort study. Though the surgical Blalock-Taussig (BT) shunt has been the more common method for infants with ductal-dependent pulmonary blood flow, the transcatheter patent ductus arteriosis (PDA) stent emerged as an alternative in 1992.

Dr. Glatz and his fellow researcher studied 106 PDA stent and 251 BT shunt patients less than one year old with ductal-dependent pulmonary blood flow and confluent pulmonary arteries who were treated in the four member centers of the Congenital Catheterization Research Collaborative over a seven-year period. The researchers found no difference in death rate or re-interventions between stents and shunts. However, they found that patients with stents showed better outcomes in other areas such as fewer complications from the procedure and shorter stays in the intensive care unit, among other things.

“Our findings support PDA stents over BT shunt placement for selected patients with this condition, particularly in experienced centers where this procedure can be performed safely and effectively,” Dr. Glatz said, adding that more research must be done to identify which patients would likely benefit from stents based on specific anatomical characteristics.

Learn more in the press release.

ICYMI

Recently on Cornerstone, we shared the steps our researchers are taking to address hunger and food insecurity in patient families, published a special Thanksgiving message from Bryan Wolf, MD, PhD, Chief Scientific Officer of CHOP Research Institute, and took a look at the Center for Child Injury Prevention Studies’  2017 Annual Report.

Catch up on our headlines from our Nov. 17 edition of In the News:

• Observing Art Helps Med Students Observe in Clinical Settings
• Parent-Submitted Smartphone Pictures Facilitate Reliable Skin Condition Diagnosis
• Genetics Experts Reveal Early Events in Childhood Hearing Loss
• Dr. Vinay Nadkarni Receives AHA 2017 Award for Lifetime Achievement in Cardiac Resuscitation Science

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