Browsing Tag

pediatrics

Nephrology

Reducing hypertension numbers in children—and adults

The Children’s of Alabama Hypertension Clinic aims to help children in the short-term and long-term. (Stock photo)

Successfully stemming rising rates of cardiovascular disease in adults needs to start in childhood. But with mounting numbers of children and adolescents developing high blood pressure—a trend driven largely by skyrocketing obesity rates—this objective is getting harder to achieve. Enter the Pediatric Hypertension Program at Children’s of Alabama, which, with its steady growth, seeks to break the cycle.  

The Hypertension Clinic, which operates three half-days each week, now sees about 45 patients weekly, a 10-fold increase from 14 years ago, says Daniel Feig, M.D., Ph.D., director of the Division of Pediatric Nephrology at Children’s, who was recruited in 2011 to oversee the clinic’s development and expansion.

High blood pressure—defined in adults and children 13 years and older as a reading of 130/80 mm Hg or higher—is relatively unusual in healthy young patients, affecting 2-3% of typical children and adolescents. (For younger children, the definition of hypertension is a statistical one, based on greater than 95th percentile for age, sex and height.) But children with obesity—who account for nearly 20% of all Americans under 18—have a 20-30% rate of hypertension, says Feig, also the Margaret Porter Professor of Pediatrics at University of Alabama at Birmingham (UAB).

Daniel Feig, M.D.

“There’s a fairly large number of kids with high blood pressure, and one of the major concerns is how we can impact the long-term epidemic that results in cardiovascular disease in adults,” he said. “Controlling hypertension in adults hasn’t gone very well—only about half of those diagnosed have even remotely effective control. This impacts their cardiovascular disease and stroke risk.”

“The only way we can get this under control is by prevention,” Feig added. “If we can make an impact in children and adolescents, we can push back cardiovascular disease in adults.”

Drawing patients from across Alabama as well as some from eastern Mississippi and western Georgia, the Children’s Hypertension Program provides ongoing care for about 2,200 children. But this “catchment area” is likely home to about 70,000 young people with high blood pressure who are undiagnosed. Part of the problem is that many pediatricians aren’t comfortable diagnosing or treating the condition, Feig explains.

When patients come to Children’s, they’re often set up with ambulatory blood pressure monitoring equipment they wear for 24 to 48 hours to measure blood pressure a few times each hour while doing normal activities. The technology enables Children’s clinicians to tease out who actually has hypertension and not blood pressure spikes resulting from factors such as exertion, nervousness or pain.

Once diagnosed, Feig and pediatric nurse practitioner Jessica Edmondson collaborate with dietitians, pharmacists, social workers and others at Children’s to ensure patients benefit from a multidisciplinary approach to treatment. Ultimately, they’re trying to prevent both short- and long-term health implications resulting from hypertension, including heart thickening, retinal damage and even impairments in cognitive function.

It’s a daunting task, Feig acknowledges. “Anything we can do to reduce the numbers right now has a domino effect that reduces long-term target organ damage and long-term cardiovascular risk,” he said. “We’re not at a point where we can reverse the trajectory in 70,000 undiagnosed kids in Alabama, but we can positively impact a good number of kids, improve their health and quality of life, and gain the opportunity to gradually access more and more of them.”

July 24, 2025 by
Neonatology

Extended CPAP Shows Promise in Preemies

Research at Children’s and UAB shows that keeping premature infants on CPAP longer may improve lung growth.

Research at Children’s of Alabama and the University of Alabama at Birmingham suggests that keeping premature babies on nasal continuous positive airway pressure (CPAP) longer than currently practiced could significantly improve respiratory outcomes, potentially changing how neonatologists approach respiratory care for the smallest patients.

Early use of CPAP is standard for preterm infants unable to breathe on their own. It helps avoid invasive ventilation and minimizes the risk of lung injury while also increasing lung volume, which could stimulate lung growth and development.

Zaki Yazdi, M.D.

Children’s neonatologist Zaki Yazdi, M.D., conducted a pilot study as part of his fellowship to see whether extending CPAP beyond traditional stopping points benefited premature infants. Yazdi’s study, published in Archives of Disease in Childhood: Fetal & Neonatal, showed that continuing CPAP reduced episodes of drops in heart rate and oxygen levels in preterm infants. These positive findings align with groundbreaking research published this year in the American Journal of Critical Care Medicine, suggesting that extending CPAP promotes lung growth in babies born prematurely.

“We know CPAP helps premature babies with respiratory distress syndrome and apnea of prematurity,” Yazdi said. “The question we were trying to answer was: When is the best time to stop CPAP? We hypothesized that if you were to continue CPAP for a 24-hour period instead of going down to nasal cannula, you would have fewer drops in your oxygen level.”

Yazdi and the Children’s neonatology team, including neonatologist Colm P. Travers, M.D., randomized 36 infants born before 34 weeks gestation to either stop CPAP when they met Children’s traditional criteria (minimal oxygen support and few apnea episodes) or continue for an additional 24 hours. The primary outcomes were oxygen levels and other vital sign changes.

Colm Travers, M.D.

Babies who remained on CPAP an additional 24 hours experienced significantly fewer episodes of intermittent hypoxemia—defined as oxygen saturation below 85% for 10 seconds or longer—compared to those transitioned to low-flow nasal cannula. The CPAP group also had fewer heart rate drops and spent less time with low oxygen saturations.

“Even though all the markers we traditionally look at say this baby should be ready to come off CPAP, perhaps there are some more subtle things that we wouldn’t normally pick up on that suggest staying on CPAP could be helpful,” Yazdi said.

Extended CPAP isn’t without risks. Prolonged treatment can delay oral feeding, since many hospitals avoid feeding babies while on CPAP. There’s also risk of nasal breakdown from the CPAP mask interface, increased costs, and potential complications like feeding intolerance from swallowing air. However, Yazdi’s study found no negative effects during the 24-hour extension period.

The team has now received funding from the National Institute of Child Health and Human Development’s Neonatal Research Network to perform a much larger study examining extended CPAP’s effects on lung development. The multicenter, randomized clinical trial—led by UAB—will involve approximately 860 babies. Unlike Yazdi’s 24-hour study, neonates randomized to the longer CPAP arm will remain on the support for at least two weeks or until they are 34 weeks post-menstrual age. The children will then be followed for two years to assess lung function development and long-term respiratory outcomes, making it the largest controlled trial of extended CPAP to date. 

Already, Yazdi said, he and other neonatologists have noticed “a little bit of creep” toward keeping babies on CPAP longer at Children’s and other institutions.

“I don’t think we’re ready to say that this is definitely the best way to go yet,” Travers said. “But preliminary data that’s very promising suggests we need to do this larger trial to see if there’s any long-term benefit.”

“This could redefine what the standard of care could be,” Yazdi said.

July 24, 2025 by
Neonatology

Gut fungi can predict BPD, study shows

Research shows that the gut composition of fungi in the second week of life predicts the later development of BPD.

By Jeff Hansen (UAB)

Extremely preterm newborns who weigh less than 3.3 pounds have immature lungs that often require high levels of ventilation oxygen in the hospital. This contributes to the chronic lung disease bronchopulmonary dysplasia, or BPD, the most common cause of death for these tiny infants. BPD exacts a devastating toll on the immature lung.

In one of the most extensive studies of the microorganisms in the intestines of very preterm infants, University of Alabama at Birmingham (UAB) and University of Tennessee Health Science Center researchers show that the gut composition of fungi in the second week of life predicts the later development of BPD, weeks to months before diagnosis of that disease. They analyzed gut fungi in the first true non-meconium stool produced before two weeks of life and found that the fungal intestinal microbiome—known as the mycobiome—of infants who later developed BPD differed in community diversity, composition and interconnectivity from the infants who never got BPD, as measured by the most up-to-date bioinformatic techniques. The researchers did not find significant differences in the bacterial microbiome in those first true stools.

To show causality, researchers transferred samples of the first true stool that predicts BPD or the first true stool of newborns who did not get BPD into female mice to give them a pseudo-humanized gut microflora. In a mouse model of BPD, newborn pups from those BPD dams showed an increased in the severity of lung injury compared with newborn pups from the no-BPD dams. In loss-of-function experiments, when the female mice with the BPD-predictive stool transplant were treated with an antifungal agent before birth, that inhibition of perinatal fungal colonization reduced lung injury in the newborn pups. In contrast, a gain-of-function experiment, where the perinatal fungal colonization of dams was augmented with a species of Candida fungus common in mice, amplified BPD severity in the newborn pups.

Kent Willis, M.D.

“These findings demonstrate that features of the initial intestinal fungal microbiome are associated with the later development of BPD in premature neonates and exert a microbiome-driven effect that is transferable and modifiable in mouse models,” said Children’s of Alabama neonatologist Kent Willis, M.D., who’s also an assistant professor in the UAB Department of Pediatrics Division of Neonatology. “This suggests causality, and it suggests that the gut fungi may represent a therapeutic target in newborn lung disease.”

Willis and Ajay J. Talati, M.D., University of Tennessee Health Science Center, Memphis, Tennessee, co-led the study, published in Microbiome.

“Collectively, our analyses demonstrate that the composition of the intestinal mycobiome of infants who did not develop BPD was more uniform,” Willis said. “In contrast, those who eventually developed BPD had more disparate mycobiomes. This suggests that a particular pattern of mycobiome development may be necessary to impart resistance to the development of BPD, and failure to do so in various ways is associated with disease development.”

The first defecations of newborn infants are meconium, composed from materials ingested while in the uterus. The first true stools in the second week, the ones analyzed by Willis and Talati, are digested milk. It is known, Willis and Talati say, that fungi in adults are vital members of the human microbiota; but compared to bacteria, their non-pathological and non-parasitic functions are still poorly understood, especially in newborns.

This prospective observational cohort study included newborn stool samples collected over six years from 2017-2020 in Memphis and 2021-2022 in Birmingham. The 64 very-preterm infants in the study who did not develop BPD had an average birthweight of 2.5 pounds, and the 38 very-preterm infants who did develop BPD had an average birthweight of 1.6 pounds. Only one of the 64 no-BPD infants in the study died, while six of the 38 BPD infants died.

July 23, 2025 by
Neonatology

A closer look at the effects of chorioamnionitis on premature babies

The majority of preterm births stem from chorioamnionitis. (Stock photo)

The vast majority of preterm births—especially “micro-preemies” born at 22 or 23 weeks’ gestation—stem from a single cause: chorioamnionitis, an inflammation of the placenta and membranes surrounding the fetus. But Children’s of Alabama neonatologist Viral Jain, M.D., is on a mission to determine why this insidious condition occurs, the ways it affects babies’ health, and how to stop it.

Occurring in an estimated 1% to 5% of births in the United States, chorioamnionitis—often shortened to chorio—can be hard to spot. It’s typically diagnosed using clinical signs of inflammation such as fever or elevated heart rates in either the mother or the baby. But chorio often eludes clinical diagnosis, silently causing damage to the placenta and triggering preterm birth, says Jain, also an assistant professor in the Division of Neonatology at the University of Alabama at Birmingham (UAB).

Viral Jain, M.D.

“It’s a huge reason why neonatology exists, as such,” he explained. “It’s the body’s reaction when there’s inflammation to deliver the baby preterm, and all the complications that come with a preterm baby are due to chorio. In addition, the inflammation also causes direct damage to the developing organs of the baby.”

Some of the extensive research conducted on chorio has focused on its causes, which may include infection, environmental chemicals, smoking and bleeding. But scientists still have a poor understanding of why it happens, Jain notes, as well as how to catch it early enough to stop premature delivery.

Much of Jain’s research has delved into chorio’s potential health implications for babies once they’re born—and the effects can be devastating. One of his studies shows that the incidence of cerebral palsy is far higher in infants born when chorio progresses to such a severe extent it becomes funisitis, or inflammation of the umbilical cord. Jain’s findings have been somewhat controversial, he acknowledges, since cerebral palsy is already known to affect more preterm infants than those born after full-term pregnancies.

“We chose the most severe chorio babies for the study to clearly show that it affects cerebral palsy development,” Jain said. “We found that it’s about 50-50—so half the risk of cerebral palsy was from being born pre-term due to chorio, and half was the direct injury coming from inflammation to the developing brain.”

To help predict the cerebral palsy risk of these infants while they’re still in the neonatal intensive care unit (NICU)—when early intervention can more easily be planned—Jain’s research has also used MRI to look for specific markers in the brain suggesting a high risk of the disabling condition.

“We showed that chorioamnionitis insult, which started at birth, continues in these babies and that we can see those changes in the MRI and that they lead to cerebral palsy,” he said. “This means you can start early intervention on those babies to capture or reduce some of the damage.”

Another of Jain’s studies suggests that infants born early due to chorio have chronic lung damage. “It creates an immune cell dysfunction in the lung that there is continuous damage happening,” he explained. In addition to requiring longer ventilator and oxygen treatment, these babies “end up developing what we call BPD, or bronchopulmonary dysplasia, which is neonatal chronic lung disease.”

Ultimately, Jain says, his research—which has been funded by the American Heart Association and National Institutes of Health—seeks to learn how chorio propagates so doctors can impede its damage.

“The goal is to find out what treatment we can give so when it’s just mild we can stop the progression and it won’t become full-blown chorio and end up delivering the baby preterm,” he said. “If we can do that, we can prevent a lot of organ damage to the lung or brain.”  

For more information on Jain’s work on chorio, listen to this episode of the Children’s of Alabama PedsCast podcast.

July 23, 2025 by
Neonatology

Using mitochondrial genetics to predict BPD

Researchers at Children’s and UAB are exploring how mitochondrial function may help predict BPD risk.

Bronchopulmonary dysplasia (BPD), a chronic lung condition affecting some extremely preterm infants, continues to be a significant clinical challenge in neonatology. While often lifesaving, supplemental oxygen can be a key contributor to long-term pulmonary complications in this vulnerable population. At Children’s of Alabama and the University of Alabama at Birmingham (UAB), researchers are exploring how mitochondrial function may hold the key to understanding and preventing BPD.

Jegen Kandasamy, M.D., an associate professor in the Division of Neonatology at UAB, leads a multidisciplinary team supported by a research grant dedicated to studying mitochondrial dysfunction in BPD. The research centers on individual differences in how mitochondrial DNA (mtDNA) haplogroups—genetic variations inherited maternally and varying by ethnicity—may influence an infant’s susceptibility to lung injury from oxygen exposure, particularly hyperoxia.

“Hyperoxia is a double-edged sword,” Kandasamy said. “It’s essential for survival, yet it introduces oxidative stress that preterm lungs are poorly equipped to handle. Our research is aimed at understanding how mitochondrial genetics impact that response.”

Using collected blood samples and clinical data from preterm infants, Kandasamy’s team is working to identify mtDNA haplogroups associated with higher BPD risk. The goal is to develop precise, genetically informed risk profiles that allow for early intervention. Hopefully, this will improve outcomes while addressing racial disparities in BPD prevalence and severity.

An especially promising area of research is platelet bioenergetics. By measuring how platelets utilize mitochondrial energy, the researchers hope to identify specific biomarkers that reflect systemic mitochondrial health and may help predict BPD risk. “Platelets are easy to access and give us a real-time snapshot of mitochondrial function without invasive procedures,” Kandasamy noted.

The team is also studying mitophagy, the elimination of damaged mitochondria through autophagy, and its role in lung development. Emerging evidence suggests that impaired mitophagy contributes to persistent mitochondrial dysfunction, exacerbating lung injury in preterm infants. As a result of this new evidence, the group is also evaluating the potential of thyroid hormone supplementation as a therapeutic strategy to restore mitochondrial function and mitigate lung damage.

By integrating clinical data with mouse models, the UAB team is uniquely positioned to investigate both the mechanistic underpinnings of BPD and potential interventions. The collaborative effort spans neonatology, mitochondrial biology and pediatric pulmonology, creating a comprehensive research environment.

“Our ultimate aim is to shift the paradigm from reactive to predictive personalized neonatal care,” Kandasamy said. “Understanding how mitochondrial genetics intersect with environmental exposures can help us identify at-risk infants earlier and intervene more effectively.”

July 23, 2025 by
Endocrinology

New ways to manage high triglycerides in children

A Children’s of Alabama endocrinologist helped develop a framework and a tool to help manage high triglycerides in children.

In recent years, endocrinologists at Children’s of Alabama have seen a drastic increase in the number of young patients with severe hypertriglyceridemia—extremely elevated triglyceride levels that sometimes exceed 1,000 mg/dL, posing serious health risks if left untreated. This growing trend reflects a broader national concern: hypertriglyceridemia affects an estimated 10-20% of youth in the U.S., with prevalence reaching as high as 40–60% among children and adolescents with obesity.

But for many pediatricians and nurse practitioners, figuring out the best approach to manage this condition can be confusing. Recognizing the need for better clarity in diagnosing and managing these children and adolescents, the Division of Pediatric Endocrinology at Children’s of Alabama and the University of Alabama at Birmingham (UAB) spearheaded a pair of major research efforts.

Ambika Ashraf, M.D., director of the division, teamed up with mentee Charles Gagnon, M.D., now a pediatric resident at Boston Children’s Hospital, to write a much-needed review in Current Atherosclerosis Reports that aims to provide a clear, practical framework clinicians can use in everyday care. The article breaks down the various causes of high triglycerides in children, highlights when to worry, and outlines treatment strategies that range from lifestyle changes to medications. It also explains when clinicians should consider emerging therapies and what to look for to prevent serious complications such as pancreatitis.

Ambika Ashraf, M.D.

“This work reflects our commitment to bridging academic knowledge with clinical practice, making a difference where it matters most: at the bedside,” said Ashraf, also the Ralph Frohsin Endowed Chair in Pediatric Endocrinology at UAB. “With a very high percentage of children affected by obesity, we are seeing a large number of pediatric patients with elevated triglyceride levels in our clinics.”

Ashraf also partnered with leading experts across North America to develop the first validated scoring tool in the region for familial chylomicronemia syndrome (FCS), a rare genetic disorder often implicated in severe hypertriglyceridemia. But Ashraf and her colleagues recognize that that some of these children may instead have an acquired condition called multifactorial chylomicronemia syndrome (MCS), which requires a different treatment approach.

The new scoring tool, known as the North American FCS Score (NAFCS), is designed to help providers distinguish between FCS and MCS in patients aged 1 year or older with severe hypertriglyceridemia. It incorporates factors such as body mass index (BMI), history of pancreatitis, triglyceride levels, apolipoprotein B levels and the presence of secondary contributors such as diabetes, medications or hormonal disorders.

The results of this collaborative effort were recently published in the Journal of Clinical Lipidology, marking a milestone in pediatric lipid care. The NAFCS score is not only a practical tool for frontline clinicians, Ashraf says, but also a prime example of how academic expertise can translate into improved patient outcomes. In addition, it may assist in confirming a clinical diagnosis of FCS in cases with inconclusive genetic testing.

“This has been a growing need,” Ashraf said. “Everyone on the panel who helped develop this tool thought this will help shape the current and future management of patients with FCS in the United States & Canada.” 

The Division of Pediatric Endocrinology’s involvement in this research highlights UAB’s national role in shaping pediatric lipid care, says Ashraf, who also serves as the director of the Pediatric Lipid Clinic at Children’s. In addition, faculty members actively participate in national working groups dedicated to lipid disorders, rare genetic diseases and pediatric obesity.

“We hope this new tool empowers more accurate diagnoses and more personalized, effective care for children struggling with complex lipid disorders,” Ashraf said. “For families, it offers hope, and for clinicians, it offers clarity.”

To learn more about the FCS score, visit https://www.lipid.org/nla/north-american-familial-chylomicronemia-calculator-or-nafcs-scoring-tool.

July 23, 2025 by
Cardiology

Law appointed division director of pediatric cardiology

Mark Law, M.D., is the new director of the Division of Pediatric Cardiology at Children’s of Alabama and UAB.

By Heather Watts (UAB)

The University of Alabama at Birmingham (UAB) Department of Pediatrics announces with great pleasure and gratitude the appointment of Mark Law, M.D., professor in the Department of Pediatrics, to the permanent position of director of the Division of Pediatric Cardiology at UAB and Children’s of Alabama. Since stepping into the interim role in November 2024, Law has made substantive changes that address current needs as well as laying a strong foundation for continued growth and success within the division and the Pediatric and Congenital Heart Center of Alabama at Children’s of Alabama. Law brings his remarkable thoughtfulness paired with a blend of clinical excellence, research innovation and mentorship to this leadership role.

“In a twist of irony, when I interviewed Dr. Law to join us in 2008, he confidently declared that he had no interest in becoming a division director,” said Yung Lau, M.D., professor and chair of the Department of Pediatrics and Law’s predecessor as division director. “Fortunately, his thinking evolved. When the intersection of his unique talents and the Heart Center’s greatest needs became clear, he answered the call.”

Over the years, Law has progressed through the academic ranks—from assistant professor to his current role as professor of pediatrics. He also serves as medical director of Adult Congenital Interventional Cardiology at UAB Medicine, with a secondary appointment in the Division of Cardiovascular Disease within the Department of Medicine.

Widely respected as a leader in pediatric and interventional cardiology, as well as adult congenital heart disease, Law has authored or co-authored more than 70 peer-reviewed articles and book chapters. He has also mentored more than 20 post-doctoral fellows and junior faculty, contributing meaningfully to the future of academic medicine.

In recognition of his many accomplishments and unwavering dedication, Law was recently appointed to the prestigious Lionel M. Bargeron Endowed Chair in Pediatric Cardiology by the Board of Trustees of the University of Alabama—a most fitting appointment given the pioneering contributions Bargeron made to the field of heart catheterization when it was in its infancy.

July 23, 2025 by
Hematology and Oncology

A New Chapter in Neurofibromatosis Care

Rebecca Brown, M.D., Ph.D., (left) and Katie Metrock, M.D., lead the Neurofibromatosis and Schwannomatosis Clinic at Children’s of Alabama.

Neurofibromatosis (NF) is a complex genetic disorder of the nervous system, marked by the growth of tumors—malignant and benign—along nerve sheath cells. In addition to tumor growth, it impacts nearly every organ, including the skin, eyes, heart and bones, and it causes neurological symptoms such as ADHD, speech disorders and learning disabilities.

There is no cure, although new treatments are emerging. Thus, it requires intensive management with a multidisciplinary team, which is exactly what the Neurofibromatosis and Schwannomatosis Clinic at Children’s of Alabama and the University of Alabama at Birmingham (UAB) offers.

Neuro-oncologist Rebecca Brown, M.D., Ph.D., directs the adult portion of the clinic, and pediatric neuro-oncologist Katie Metrock, M.D.,directs the pediatric side. The two work closely together, with Brown seeing patients as young as 12 and both teaming up to create a transitional program for children moving into adult care.

“The disease affects every aspect of these patients’ lives,” said Brown, who recently moved to UAB from Mt. Sinai Health System in New York City. “I tell people that I’m the most generalist sub-specialist that exists because NF experts are the only ones who really understand, pay attention to and address all these many aspects.”

“Even though they all have the same diagnosis of NF, every patient is different, and every family is a little different,” Metrock said. “So how do we approach care in a way that makes the most sense for each patient?”

For Brown, that means shifting the adult clinic from one that’s been focused on diagnosis, genetics and disease phenotype to one that can have a greater clinical impact on patients. “My focus is patient forward,” she said. “I’m interested in addressing the problems that patients experience, especially with regard to supportive care—including psychological care and pain management—and delivering the most recent recommendations for tumor surveillance and other health risk factors such as hypercholesterolemia, stroke and heart disease.” She also wants to bring more clinical trials to UAB to “try to push the envelope as far as developing novel therapies for their conditions.”

In addition, she offers a resection clinic to remove cutaneous tumors. After going through special training, she started it for two reasons. “The first is that patients have a difficult time finding a surgical specialist who has the interest and the bandwidth to remove these tumors,” she said. “And second is that the out-of-pocket costs can be prohibitive.” She can remove multiple tumors in a single 90-minute session, reducing both the financial burden and time commitment for patients.

On the pediatric side, non-medical specialists such as social workers, child life specialists and school liaisons provide the holistic level of support children and their families require. “There’s so much that needs to be to be managed outside of our clinic with these children,” Metrock said. “So the social worker and school liaison really help bridge the gaps between school and life.” The clinic also works closely with the Hope and Cope Psychosocial and Education Program to help address neurocognitive and mental health issues.

“We’re very committed to providing care for these patients, not just for their tumors, but for how the disease affects their life outside of our clinic,” Metrock said. “But I always felt we could grow. So I’m very excited that Dr. Brown is here and that we have a new push for what we can do for these families.”

That includes building on the existing multidisciplinary foundation and working on streamlining care for families so they don’t have visit the hospital—which might be hours away from their homes—for multiple appointments.

“They have other children, they have jobs, they have everything outside in life. And so, us asking them to ‘come back, come back,’ can be quite overwhelming,” Metrock said. “So, how can we streamline their care so that they’re getting the best care they can in a way that allows them to keep living their life away from clinic in the hospital?”

That involves bringing more clinicians interested in the condition into the clinic as well as expanding an already robust clinical research program.

Indeed, research is embedded in the mission of the clinic. UAB is the headquarters for the Neurofibromatosis Clinical Trials Consortium (NFCTC), which coordinates research across 24 sites internationally.

Girish Dhall, M.D., who directs the Division of Pediatric Hematology, Oncology and the Blood and Marrow Transplantation Program at Children’s, leads the consortium. Since its inception in 2006, it has grown from nine to 24 sites with more than 72 investigators, according to Karen Cole-Plourde, the NFCTC operations center program director. It has also launched 17 clinical trials involving more than 500 patients, with eight trials currently in development; published more than 19 peer-reviewed papers with five in progress; and landed more than $5 million in funding from pharmaceutical companies, foundations and government sources.

In addition, UAB boasts one of the world’s most robust neurofibromatosis genetic labs, which has identified more than 3,000 NF type 1 mutations.

The research team also played a crucial role in developing selumetinib, the first FDA-approved drug for NF, which blocks the action of an abnormal protein that signals tumors to grow. This can stop or slow tumor growth.

While selumetinib has been a major step forward, more fast-acting targeted therapies are needed, Brown said. “These patients can develop new and enlarging tumors in a relatively short period of time,” she added. “There is very much a need and value in finding medications that can stabilize or shrink those tumors over the long term.”

In the meantime, she and Metrock focus on proactive management. “We’re very proud of what we have here,” she said, “and are very aware of the responsibility we have to move forward for these patients.”

July 18, 2025 by
Hematology and Oncology

A New Chapter for Hope and Cope

Kristin Canavera, Ph.D., aims to strengthen the Hope and Cope Psychosocial Program as its new director.

As Kristin Canavera, Ph.D., has settled in to her new role at Children’s of Alabama, she’s had a chance to meet with many of the patients her team serves. What she’s seen has not just impressed her—it has reinforced her ideas on how to improve their lives.

Canavera, an associate professor of pediatric hematology-oncology at Children’s and the University of Alabama at Birmingham (UAB), is taking over as the director of the Hope and Cope Psychosocial Program for the Division of Hematology, Oncology and the Blood and Marrow Transplantation Program. She arrived in the fall of 2024, and the patients she’s seen since then have left a mark on her.

“I think our kids are incredibly resilient, and they impress me every day with all they’ve gone through,” she said.

Canavera knows their struggles. A cancer diagnosis can be extremely challenging for both a child and their family—not just physically, but psychologically. “They’re dealing with real stressors,” she said. “There’s just a lot of support these families could benefit from.”

The psychological aspect of their experience is what she hopes to address and improve. It’s been the goal of the program since its inception, and Canavera says she’s lucky to inherit a program that’s robust and multidisciplinary. But she hopes to take it a step further.

“Given that psychosocial care is a critical component of overall health care for our pediatric hematology/oncology patients, my vision is to improve the integration of mental health care into the medical care of these patients,” she said. 

Canavera’s primary goal is to change the model of care from reactive to proactive. To that end, she plans to implement regular mental health screenings for patients diagnosed with cancer and blood disorders. These will take place at various times throughout the patient’s treatment journey.

Canavera plans to create psychoeducational materials designed to help the patients better understand the psychosocial services and interventions the program offers. 

She also wants to expand bereavement support services, including a parent mentor program, where experienced parents whose children have been in the hospital can support those newly navigating the medical system.

“Parents really want to talk to other parents who’ve been through it,” Canavera said. “That’s their best support. Even though I’ve worked with this population for several years, I haven’t walked in their shoes.”

Canavera also plans to expand services to traditionally underserved populations, particularly adolescents, young adults, and patients with sickle cell disease.

In all of her strategies, Canavera aims to take a family-centered approach, which she says will be crucial in strengthening and expanding psychosocial services.   

January 27, 2025 by
Gastroenterology

New technology improves diagnosis of esophageal conditions

The Children’s gastroenterology team began using Endoflip in the fall of 2024.

Diagnosing esophageal disorders in pediatric patients presents a number of challenges for both providers and patients. The diagnostic tools typically used in the past often caused discomfort for the patient and made diagnosis difficult. Thanks to the addition of a new technology, Children’s of Alabama is able to circumvent these issues to streamline the process for both sides.

In the fall of 2024, Children’s began using an endoluminal functional lumen imaging probe, also known as EndoFlip. It’s a device that evaluates esophageal distensibility under general anesthesia during endoscopy to provide important insights for patients with conditions like dysphagia, eosinophilic esophagitis (EoE), and post-surgical complications. Clinicians have been using this on adult patients since 2009, but it was FDA approved for children 5 and older in the last few years, and at least one study suggests it’s also safe for patients even younger. In pediatric patients, who often struggle with conventional methods, the use of anesthesia significantly reduces stress and discomfort for both children and their families.

“For conditions like EoE, where esophageal inflammation and reduced distensibility are common, this tool bridges the diagnostic gap,” said Diana Montoya Melo, M.D., a pediatric gastroenterologist at Children’s. “We can now identify abnormalities that were previously undetectable, leading to timely and effective interventions.”

EndoFlip is particularly beneficial for patients with swallowing difficulties. By measuring esophageal distensibility, physicians can detect subtle functional issues that may not be evident with endoscopy or other imaging studies. For instance, patients with EoE often present with swallowing challenges despite minimal inflammation.

EndoFlip also helps physicians identify areas of reduced esophageal diameter, guiding therapeutic interventions such as esophageal dilation. This can lead to immediate symptom relief and dramatically improve a patient’s quality of life. “We can identify abnormalities we couldn’t before, like areas of decreased distensibility, and address them with esophageal dilation — fixing symptoms immediately in some cases,” Montoya Melo said.

The technology also helps evaluate post-surgical complications in patients with congenital esophageal anomalies, such as tracheoesophageal fistula. By pinpointing areas of reduced distensibility, EndoFlip helps ensure accurate diagnoses and effective management plans.

For Children’s clinicians, introducing EndoFlip into existing diagnostic workflows has streamlined the patient management process. Combining it with endoscopy has enabled physicians to save time and resources, avoiding the need for multiple procedures. “It only adds about five to seven minutes to the procedure, yet it provides critical information that can prevent unnecessary repeat evaluations,” Montoya Melo said.

Patients also benefit from reduced hospital visits, fewer diagnostic tests, and faster resolutions to their symptoms. Also, EndoFlip’s ability to guide precise interventions eliminates the trial-and-error approach, saving both time and health care resources.

“The biggest advantage for families is being able to get information similar to esophageal manometry while the patients are sedated during endoscopy,” Montoya Melo said. “This avoids the discomfort of a transnasal catheter procedure while awake.”

January 22, 2025 by