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Inside Pediatrics, Neurology & Neurosurgery

New Clinic Looks for Links Between Neurology and Genetics

Children’s of Alabama has a specialized clinic in neurogenetics.

Some neurologic conditions have a genetic basis, and some genetic conditions manifest with neurological symptoms. With so much crossover, Children’s of Alabama created a specialized clinic in neurogenetics. 

“I get a lot of referrals from my neurology colleagues and my genetics colleagues,” said Amitha Ananth, MD, who completed a fellowship in medical genetics as well as neurology. “Creating the clinic allows us to focus in on these problems rather than seeing the children individually. It also provides a good teaching environment for trainees in neurology and genetics to see the overlap.”

Neurogenetics is a growing field of study designed to better understand genetic causes of brain disorders, and to diagnose and treat these conditions. 

Ananth sees children and families together with a genetic counselor to discuss genetic risks and the benefits of testing. “It’s really helpful to have a genetic counselor explain and guide the discussion about testing,” she said. 

So how did she become interested in neurogenetics? “I was always going to be a neurologist,” she said. “I found the brain and the nervous system really fascinating. And in medical school, I found I enjoyed the pediatric version of it so much more.” 

Ananth went to Stanford to complete the medical genetics fellowship after realizing she didn’t have enough genetics background to feel comfortable with gene sequencing and understanding the results. “There are definitely people in child neurology with significant research backgrounds who are quite comfortable with genetics, but as a purely clinical child neurologist I felt I needed the extra training to gain this expertise.” 

A lot of pediatric neurology has a genetic basis, she said. The affordability and accessibility of broad-based genetic testing, such as whole exome sequencing, is relatively new but provides important information in difficult-to-diagnose cases. “What I learned during my training was that the next big revolution was going to be in diagnosing neurogenetic conditions with the hope that we would work toward treating them.”

That’s already happening with groundbreaking new treatments for genetically based pediatric neurologic diseases such as Duchenne’s muscular dystrophy and spinal muscular atrophy (SMA). Ananth remembers when she was in residency, and SMA was a death sentence. “There was no treatment. Now there is,” she said.   

Inside Pediatrics, Neonatology

Neonatal Consortium Advances Care for Patients with Rare Diagnoses

The Children’s Hospitals Neonatal Consortium (CHNC) works to improve patient outcomes. 

If you’re trying to make quality improvements, a good place to start is in the past. Historical data can hold the key to understanding what works, what doesn’t and what holds promise. But searching for answers in a small sample can be like panning for gold in a puddle. You need a stream of data to draw out the nuggets.

Prior to 2006, Children’s of Alabama was similar to most freestanding Children’s Hospitals: treating some of the sickest patients with unique conditions that didn’t always have textbook answers. Children’s neonatologist Tim Coghill, MD, was in the same position as his peers across North America; they knew there could be knowledge in numbers. With colleagues at 16 other Children’s Hospitals, he co-founded the Children’s Hospitals Neonatal Consortium (CHNC), an international group of level IV neonatal intensive care units (NICUs) that work together to improve patient outcomes. 

Now in its 16th year, the group consists of more than 40 top-rated Children’s Hospitals in the U.S. and Canada. All contribute to the Children’s Hospitals Neonatal Database, which allows them to compare a larger number of outcomes for complex patients and rare diagnoses and find the “gold” in their shared data.

Children’s neonatologist Allison Black, MD observes that, “We receive patients with rare diagnoses that you may only take care of once every 10 years. When you can pool the data on these patients with other centers, you can see if certain treatments and characteristics are associated with better outcomes and help formulate the best practices.”

One of the primary ways the CHNC establishes those best practices is through Collaborative Initiatives for Quality Improvement (CIQI) projects, such as STEPP-IN, a program aimed at improving neonatal surgical outcomes. The STEPP-IN initiative developed a standardized handoff and workflow process for patients being transported to and from the operating room. Through this process, the stability of infants during the time surrounding surgical procedures was greatly improved. Another quality improvement initiative, Erase Post-Op Pain, included an algorithm for managing and preventing pain after surgery in neonates. After initiation of these algorithms, the frequence of uncontrolled post-operative pain episodes following procedures decreased to less than 6% at Children’s of Alabama, a best in class outcome.  The CIQI projects often include clinicians, caregivers and specialists from various departments and disciplines throughout the hospital. Through the collaborations in these initiatives, there have been other permanent interdisciplinary teams established, such as the neurodevelopment care team, palliative care and infant feeding teams at Children’s. “Our involvement with the CHNC has helped foster a culture of collaboration, and this has helped us strive for a more well-rounded, multidisciplinary model when caring for our patients and supporting their families,” Black said.

Children’s involvement in the CHNC has provided the opportunity to help others seeking to improve care and create a collaborative environment in their units, as well. Hannah Hightower, M.D., presented at a national seminar highlighting her success with improving communications during high-stakes situations through a project involving debriefing after code events. In the past year and a half, Coghill and Black participated in two national workshops providing education to pediatric providers on difficult discussions and end-of-life decision making with families in the NICU. All three of these physicians have contributed to published manuscripts in the past year and have more in production through their involvement and collaborations in the CHNC. 

Outside of the QI projects, CHNC members also participate in an ever-expanding list of focus groups. Focus groups Children’s of Alabama participates in include:

  • Resuscitation
  • Discharge planning
  • Gastroschisis
  • Palliative Care and Ethics (PACE)
  • Neurosurgery
  • Micrognathia
  • Kidney and Urology
  • Necrotizing Enterocolitis
  • Genomics

These focus groups, said Black, “allow us to work together to develop the best practices for specific diseases.”  The greatest benefit of the CHNC is that patients get access to care that is constantly improving. “Through our involvement with the CHNC, we are lucky to be on the forefront of deciding how to best care for complex patients,” said Black. “We are constantly striving to gain knowledge and improve the care of our unique patient population, and in turn, our patients all benefit from this collective knowledge.”

Endocrinology, Inside Pediatrics

High-Risk Diabetes Clinic Keeps Kids Out of the Hospital

Children’s of Alabama offers clinic to help high-risk diabetes patients.

The 2018 death of a teenage patient was a wake-up call for Children’s of Alabama pediatric endocrinologist Mary Lauren Scott, MD. The patient had type 1 diabetes and had been admitted numerous times over the previous few years with sky-high blood sugar. He died at home from diabetic ketoacidosis (DKA), a diabetic emergency in which the body breaks down fat for fuel because it doesn’t have enough insulin.

In response, Scott, who also has type 1 diabetes, took action. She and her team searched their data and found 10 patients in the previous year who had been admitted three or more times with DKA. Such admissions are a red flag that the patient isn’t taking their insulin doses at home and that they have a risk of dying or having a medical emergency they can’t recover from. 

“When you’re dealing with a chronic disease such as diabetes and patients have recurrent hospitalizations, we get burnt out too,” she said. “That makes it difficult to have the kind of positivity, motivation and drive to help them surmount the insurmountable and deal with what, for them, feels impossible. It’s hard, it’s complicated, and it’s not uplifting when you feel like you’re not able to help the patient.”

Scott, who was already directing a clinic for children and adolescents with type 2 diabetes, started another clinic in 2018 specifically for these high-risk patients. The primary goals of the clinic are to prevent hospitalizations and saving lives. The patients are all adolescents, at an age when they—instead of their parents—typically start handling their insulin injections and blood glucose tracking. 

The clinic meets half a day each month. The focus is on communication. Parents, social workers, nurses, nurse practitioners, diabetes educators and counselors work as a team to build trust with the teenagers. “We speak to them differently to get them to open up to us more than they perhaps ever have with other providers,” Scott said.

That means ensuring them there is no shame attached to missing insulin doses; what’s important is that they talk about it. “We tell them, ‘We need to know how to help you, so we can help you find success,’” Scott said. “We try to make the focus more about what’s working for [them] with [their] diabetes, what’s not working, and what [they] think would make things easier.” 

Patients must go six months without hospitalization before they graduate from the program.

The clinic is not just for patients, but for their families, as well. The patients are often drawn from minority and low-income backgrounds and have single parent households, Scott said. “The parent works and is also trying to manage a teenager who’s depressed or burnt out,” she said. “They can’t do everything.”

Because many of the parents have a history of interaction with child protective services, they rarely opened up to the staff about their child’s difficulties. With the new approach, parents are now more likely to talk about what’s happening at home and what they need help with. “That’s where we typically find success for these patients,” she said. 

The results have been impressive. 

  • 14 of the original 15 patients graduated. The one remaining is the youngest patient with significant home life issues. 
  • 8 of the 14 had a lower A1C when discharged. 
  • 6 of the 14 had no DKA admissions while in the clinic; all had three or more before joining the clinic. 
  • 12 of the 14 had fewer missed visits even though they came to clinic monthly instead of every three to four months.
  • Half had lower rates of DKA.
  • 12 of the 14 started continuous glucose monitoring while in clinic, and four also received insulin pumps, leading to a dramatic improvement in their health.
  • No patients died.

There are currently eight more patients enrolled, and more will be invited in the coming months, Scott said.

Endocrinology, Inside Pediatrics

PCOS Clinic Provides Holistic Care with a Multidisciplinary Approach

Doctor speaking with patient.

Excessive weight gain, acne, hirsutism, thinning hair, irregular menstrual cycles and insulin insensitivity –  these are some of the symptoms of polycystic ovary sydrome (PCOS), the most common reproductive condition in women and a risk factor for a plethora of metabolic diseases, including diabetes and cardiovascular disease, as well as infertility. It affects between 3% and 15% of women, who often wait years for a diagnosis, visiting numerous clinicians in the process.[i]

That’s changed for the young women of Alabama since pediatric endocrinologist Christy A. Foster, MD, started a multidisciplinary clinic in 2020 for adolescents with PCOS.

“Our goal is to try to improve the care patients receive in a more holistic manner,” she said. The clinic’s foundation is a multidisciplinary team that includes Foster, a pediatric gynecologist, a dermatologist, a social worker and family counselor, and a nutritionist. 

Many of these young women have been seen multiple times by their primary care doctor before they’re referred. “Coming to the clinic enables them to put a voice to what’s wrong—a feeling that they’re understood—which can be helpful,” Foster said. The multidisciplinary approach also provides expertise from several different providers. “That certainly helps with their care because otherwise they might have to make several different appointments and take more time to travel.” And most are just glad to have a home with providers who have expertise with PCOS. 

The physical manifestations of PCOS create a challenge at a particularly difficult time for young women, Foster said. “Their peers notice they ‘look different,’” she said. “That’s certainly a challenge for them from a mental health perspective.” That’s why it’s so important that the team includes counseling and mental health.

The Children’s clinic is one of only a limited number in the country, which is one reason Foster felt strongly about starting it. “I wanted to improve access to care in our region and address the patient as a whole person,” she said.

The team tailors treatment to address the patient’s greatest concerns, be it pre-diabetes, facial hair, severe acne or other repercussions of PCOS. “My hope is that when we start them on treatment, they feel their concerns are being addressed and heard and understood,” Foster said. Treatment options include birth control pills to regulate their menstrual cycles, an insulin sensitizer such as metformin, laser hair treatment and androgen receptor blockers. 

Another advantage of the clinic is that the team can follow the women longitudinally and, hopefully, prevent some of the metabolic conditions they’re at risk for.

After clinic, the team holds a debrief to discuss the patient as a whole, “There is a benefit to having everyone in the same place,” Foster said. “It improves communication.”

The clinic is held once a quarter, although patients may see individual providers at other times. Since it began, about 50 young women have been seen, with about six to eight seen during each half-day clinic. “But certainly we’re looking to grow,” Foster said.


[i] Gibson-Helm M, Teede H, Dunaif A, Dokras A. Delayed Diagnosis and a Lack of Information Associated With Dissatisfaction in Women With Polycystic Ovary Syndrome. J Clin Endocrinol Metab. 2017;102(2):604-612. doi:10.1210/jc.2016-2963

Hematology and Oncology, Inside Pediatrics

New BMT Program Director Focused on Expanding Immunotherapy

Joseph Chewning, MD, is the clinical director of the Pediatric Blood and Marrow Transplantation program at Children’s of Alabama.

As Joseph Chewning, MD, takes over as the clinical director of the Pediatric Blood and Marrow Transplantation (BMT) Program at Children’s of Alabama, he has an eye toward the program’s future, especially when it comes to immunotherapy.

It’s a field that Chewning says is growing very quickly. CAR-T cell therapy, in particular, is changing the paradigm for blood cancer treatment. With CAR-T, the child’s own immune cells are programmed to recognize and destroy a patient’s cancerous cells. Children’s became certified in 2018 to provide the therapy to children and young adults with recurrent acute lymphoblastic leukemia (ALL). As the new clinical director of the pediatric BMT program, Chewning wants to make sure Children’s can use CAR-T and other immunotherapies to help as many patients as possible.

“That’s really the goal for the program going forward—to continue to expand the novel treatments that we can provide for the children of Alabama, including cellular therapies,” he said.

One of the major advantages of immunotherapies is that, while they do have side effects, they’re typically less toxic than bone marrow transplant. For that reason, Chewning believes they’ll continue to become more common.

“At some point I think these cellular therapies will eclipse bone marrow transplant in usefulness,” he said. 

Chewning’s focus on immunotherapies is one part of his overall goal of providing the best quality care for patients in the safest way possible. 

“It’s really important to me that we fulfill the responsibility we have to the children of our state,” he said. Chewning wants to bring cutting-edge therapies to Children’s so families in Alabama won’t have to travel to get them.

“I’ve got four kids of my own,” he said. “I can’t imagine having a sick child who needs life-saving therapies and then having to separate from the rest of my family and go four or five states away.” 

In addition to serving as director of the BMT program, Chewning is the medical director for patient safety.

Hematology and Oncology, Inside Pediatrics

Solid Tumor Program Features Many Experts With One Goal

Elizabeth Alva, MD, directs the solid tumor program at Children’s of Alabama and the University of Alabama at Birmingham.

The pediatric solid tumor program at Children’s of Alabama and the University of Alabama at Birmingham (UAB) is made up of experts from several specialties who work together to achieve one goal: provide the best care possible for patients with solid tumors.

“There are so many advances happening today in pediatric oncology,” Elizabeth Alva, MD, director of the program, said. “It’s helpful to create a niche in which you have a team that’s knowledgeable with good expertise in that area.” 

The program is part of the Children’s hematology/oncology department. Alva is joined by fellow oncologists Jamie Aye, MDEmily Johnston, MD; and Kimberly Whelan, MD. The team also includes advanced practice nurse practitioners and specialists from surgical oncology, orthopedic oncology, radiation oncology, palliative care and developmental therapeutics, as well as emotional support and psychosocial services.

One of the team’s objectives is to standardize care while still individualizing it. A key component of that is identifying the best clinical trials for their patients, something they do during their monthly “protocol” meetings. They also treat children with high-risk disease, such as neuroblastoma, with a comprehensive search of the literature to ensure everyone is up to date on the latest therapies and scientific findings, and then develop practice standards. “We’re making sure that we’re all focused on getting those patients the best care they can have,” Alva said.

The team also aims to increase participation in national consortiums of pediatric cancer centers to bring additional state-of-the-art care and innovative research to patients at Children’s. “Children’s and the University of Alabama at Birmingham are well recognized as a good center, but we want to continue to improve our national presence and our recognition as a top-notch program,” Alva said.

One area where that’s already happening is with the tumor xenograft project directed by Aye and pediatric surgeon Elizabeth A. Beierle, MD, in conjunction with others at UAB. Since the project’s inception in 2013, 175 patients have agreed to let the researchers implant their tumors into an animal model—a much more accurate way of studying these diseases. The goal is to better understand how the tumors behave and identify treatments that not only halt the cancer growth but have fewer side effects than current therapies.

Inside Pediatrics, Urology

New Chief of Urology Aims to Make Cutting-Edge Tech More Accessible to Alabama Families

Stacy Tanaka, MD, Chief of Pediatric Urology at Children’s of Alabama.

For pediatric urologist Stacy Tanaka, MD, it was an easy decision to accept the role of chief of pediatric urology at Children’s of Alabama. She already had relationships with several physicians here, including working on a spina bifida project with some of the pediatric neurosurgeons. 

She was also close with David Joseph, MD, who had been chief since 1986 but had decided to step down from the administrative role. “He’s so well respected in the pediatric urology community and urology community,” Tanaka said.

Coming to Children’s felt like a new but comfortable challenge. She started in January after 12 years at Vanderbilt Children’s Hospital in Nashville.

Tanaka’s vision for the department is to ensure that the children of Alabama rarely have to leave the state for pediatric urology services. And that means bringing in more technology. “I don’t want families of kids who need our services to go elsewhere because they think we can’t provide it.”

One area is robotic surgery. Laparoscopic surgery has revolutionized the field, but it’s challenging. “When you’re doing conventional laparoscopy, it’s a little bit like putting a fork through one hole and a knife through the other and trying to cut your steak,” she said. “With the surgical robot, there is more freedom of movement, making it closer to using your hands,” she said. 

Currently, the Children’s team can access a surgical robot at the University of Alabama at Birmingham, but UAB is not a children’s hospital. So, with Dr. Tanaka’s arrival, Children’s will soon have its own robot.  Having robotic surgery at Children’s would help keep families here, Tanaka said. “Your care is going to be as good or better than anywhere else you go, and you don’t have to travel.”

Inside Pediatrics, Neurology & Neurosurgery

Birmingham to Cape Town: Children’s Neurologist Consults Across Continents

Leon Dure, MD, neurologist trained in pediatric movement disorders at Children’s of Alabama.

It’s not easy to find a specialist trained in pediatric movement disorders. At Children’s of Alabama, there are two: Leon Dure, MD, and Emily Gantz, DO. They and their multidisciplinary team provide the bulk of care for children with movement disorders in Alabama and beyond. 

Considering the dearth of movement disorder specialists here in the U.S., Dure wondered what the numbers were like in Africa. His curiosity led him to become a consultant to a pediatric neurologist in Cape Town, South Africa. 

Dure’s interest in helping physicians in under-developed countries was piqued through his work with the International Child Neurology Association (ICNA), which seeks to foster education and resources for practitioners in low-resource environments, such as South Asia, Africa and South America. 

He recalls a meeting where a doctor from sub-Saharan Africa presented. “She said there are 80 million children under the age of 18 within that region and two or three neurologists,” Dure said. “So, I realized that the types of problems and issues they’re facing are very different from what we face here.”

In the U.S., Dure often receives requests from colleagues for his opinion on a child, typically via a video sent by text. Why, he wondered, couldn’t the same be done for clinicians in low- and moderate-income countries?

Turns out it wasn’t quite so simple, given the challenges of moving information from places as disparate as South Africa and Birmingham. Dure persevered and found vCreate, a tech company that works with the U.K.’s National Health System to provide secure video messaging. There is even a separate unit called vCreateNeuro, a cloud-based service that allows registered patients and clinicians to securely share smartphone-recorded videos. 

He and vCreate developed a proof-of-concept project with a neurologist who has an interest in movement disorders at the Red Cross Hospital in Cape Town. When he has something he wants Dure to review, the neurologist uploads it to the vCreate platform, and Dure gets an email alert. 

“Then we begin a back-and-forth regarding what to call it, what to do about it, how to work it up, et cetera,” he said. 

The pilot has been in place for about six months, and Dure has consulted on about eight videos. 

“These are relatively unusual conditions that are very difficult to characterize,” he said. “So just having someone else say ‘Yeah, you got it, you’re right,’ is quite helpful.”

Dure would like to grow the program to other countries with other U.S.-based pediatric neurologists providing their expertise, but that will require funding. For now, vCreate has been providing the technology for free. “I don’t know if that’s going to be a long-term possibility,” he said. “But so far, it works. And I’m able to provide my expertise to somebody in Cape Town without a whole lot of effort.”

Inside Pediatrics, Nephrology

With Parental Training, Children Undergo Home Dialysis While They Sleep         

The team at Children’s of Alabama’s Renal Care Center works hard to transition children and their families to home dialysis

Going to the hospital three to five times a week and being hooked up to a machine for hours at a time is no life for a child. Yet that’s exactly what children with end-stage kidney disease waiting for a transplant spend their time doing. Which is why the team at Children’s of Alabama’s Renal Care Center works so hard to transition children and their families to home dialysis. Currently, of the 30 children they have on dialysis, 17 are able to get their treatments at home.

“In general, home therapy is best for children,” said pediatric nephrologist and Renal Care Center director  Sahar Fathallah-Shaykh, MD. Since the dialysis is typically performed while the child sleeps, they miss less school and have more free time for friends and family. Plus, parents don’t miss work. Still, she said, “We understand that some parents don’t want to do it because it’s very stressful to be responsible for it.”

If parents do want to try home dialysis, the first step is a home visit from a social worker or dialysis nurse. They ensure there is enough space for the machines with the correct electrical outlets and an environment that doesn’t increase the risk of infection, which would require hospitalization. 

Next, the family meets with a dialysis coordinator to learn what’s expected of them. “We make sure we tell them everything ahead of time,” Fathallah-Shaykh said. Finally, the medical team holds a home dialysis selection meeting, where they decide if home dialysis is the right choice for the patient. If it is,  the next step is surgery to implant the catheter needed for home therapy.

Meanwhile,  caregivers undergo extensive training. “It’s a very standardized process to ensure they understand not only how we do things, but why,” Fathallah-Shaykh said. Before the child goes on home dialysis, they spend a couple days in the hospital, where the parents perform dialysis under the watchful eye of the dialysis nurses. “We make sure they’re doing it right, and they have no hesitancy or issues with doing it at home,” she said. When both parents and the Children’s team are comfortable, patients are sent home. “We’re here for them all the time,” Fathallah-Shaykh added.

There are two types of home dialysis: peritoneal dialysis, which uses the lining of the abdomen to filter blood inside the body through a catheter, and hemodialysis, a more complex procedure that requires the caregiver to insert two needles into the child’s fistula or graft, so blood can flow from the body to a machine where it is filtered and then sent back into the body. Children’s is one of only three pediatric centers in the country that train families to do hemodialysis at home. To date, the Children’s Renal Care Center has placed three children on home hemodialysis. 

Although hemodialysis has gotten easier in recent years with machines specifically developed for the home that are easier to set up, clean and disinfect, it’s still invasive. “And they have to deal with blood, which is a lot for some families,” Fathallah-Shayk said. “So we have to have motivated families to do that.” 

Hemodialysis training typically lasts several weeks, while peritoneal training may take only a few days or a week. Regardless of which process is used, she said, “We take our time to make sure families are comfortable doing it.”

Inside Pediatrics, Nephrology

Lecture Series helps Pediatric Nephrology Fellows Learn and Gain Confidence

Michael Seifert, M.D., is a pediatric nephrologist at Children’s of Alabama and an associate professor in the Division of Nephrology in the University of Alabama at Birmingham Department of Pediatrics.
Michael Seifert, MD, is a pediatric nephrologist at Children’s of Alabama and an associate professor in the Division of Nephrology at the University of Alabama at Birmingham.

At any given time, the nephrology department at Children’s of Alabama is training three fellows, one for each year of its three-year program. The program is one of the best in the country, but one thing it lacked until recently, according to pediatric nephrologist Michael E. Seifert, MD, was a formalized educational curriculum. 

To fill that need, the department started a weekly lecture series in July 2021. It runs throughout the academic year, and lectures focus on topics that correspond to content themes in the American Board of Pediatrics Pediatric Nephrology Certification Exam. The goal is to educate the fellows about topics they will encounter frequently—such as hypertension—or topics most fellows would have had limited experience with as pediatric residents—such as dialysis and kidney transplantation. 

It’s not the first time the department has offered lectures for fellows; the difference now is that it’s a formalized program.

“We always had some faculty give lectures for our fellows but had never organized a formal didactic curriculum for our fellowship program,” said Seifert, who’s the associate program director for the Pediatric Nephrology Fellowship program at the University of Alabama at Birmingham (UAB). “We often sent our fellows to formal lectures delivered through the adult nephrology program.  While these are high quality, they were often not relevant for pediatric nephrology.” 

In the new program, Division of Pediatric Nephrology faculty give the majority of the lectures. Occasionally, speakers also include guests from other divisions who speak on topics that might relate to kidney issues. For example, a urologist might speak on bowel and bladder dysfunction; a rheumatologist might provide a broader view of lupus, which often affects the kidney.

The fellows are also encouraged to prepare and deliver their own talks to develop some of their presentation and public speaking skills in a friendly environment. “They really appreciate that opportunity to hone their skills in a relatively low-risk setting,” Seifert said.

The didactic lectures are interspersed with journal clubs and case discussions. “We had a fellow recently who did a great presentation of a complex case that he was taking care of and how it spurred a quality improvement project,” pediatric nephrologist Erica Bjornstad, MD, said.

“We’re really trying to help build their confidence in clinical pediatric nephrology but also in how we can take that further beyond just clinical education to spur their research or quality improvement ideas,” she said.